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1.2 | hp/releases/2024-04-26 | secondary_consequence "Consequence of a disorder in another organ system." | uk_spelling "UK spelling" | human_phenotype | Please see license of HPO at http://www.human-phenotype-ontology.org | hp.obo | owl:versionInfo "2024-04-26" xsd:string | has_part | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000001 | All | Root of all terms in the Human Phenotype Ontology. | UMLS:C0444868 | nan | nan | nan | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 | nan | HP:0000002 | Abnormality of body height | nan | UMLS:C4025901 | "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of body height" EXACT layperson [] | HP:0001507 ! Growth abnormality | 2008-02-27T02:20:00Z | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000003 | Multicystic kidney dysplasia | Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. | UMLS:C3714581 | "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." [https://orcid.org/0000-0002-0736-9199] | "Multicystic renal dysplasia" EXACT [] | HP:0000107 ! Renal cyst | nan | HP:0004715 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000005 | Mode of inheritance | While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (... | UMLS:C1708511 | "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [https://orcid.org/0000-0002-0736-9199] | "Inheritance" EXACT [] | HP:0000001 ! All | nan | HP:0010985 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000006 | Autosomal dominant inheritance | nan | UMLS:C0443147 | "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 ... | "monoallelic_autosomal" EXACT HP:0034334 [] | HP:0034345 ! Mendelian inheritance | nan | HP:0001463 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000007 | Autosomal recessive inheritance | nan | UMLS:C4020899 | "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 ... | "biallelic_autosomal" EXACT HP:0034334 [] | HP:0034345 ! Mendelian inheritance | nan | HP:0031362 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000008 | Abnormal morphology of female internal genitalia | nan | UMLS:C4025900 | "An abnormality of the female internal genitalia." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of female internal genitalia" EXACT [] | HP:0010460 ! Abnormality of the female genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000009 | Functional abnormality of the bladder | nan | UMLS:C3806583 | "Dysfunction of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] | "Poor bladder function" EXACT [] | HP:0000014 ! Abnormality of the bladder | nan | HP:0008731 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000010 | Recurrent urinary tract infections | The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. | UMLS:C0262655 | "Repeated infections of the urinary tract." [https://orcid.org/0000-0002-0736-9199] | "Urinary tract infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] | HP:0011277 ! Abnormality of the urinary system physiology | nan | HP:0000094 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000011 | Neurogenic bladder | Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (... | UMLS:C0005697 | "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." [https://orcid.org/0000-0002-0736-9199, PMID:18095004, PMID:22400020] | "Lack of bladder control due to nervous system injury" EXACT layperson [https://orcid.org/0000-0002-6548-5200] | HP:0000009 ! Functional abnormality of the bladder | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000012 | Urinary urgency | Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. | UMLS:C4020898 | "Urge incontinence is the strong, sudden need to urinate." [https://orcid.org/0000-0002-0736-9199, PMID:12559262] | "Urinary urgency" EXACT layperson [] | HP:0000009 ! Functional abnormality of the bladder | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000013 | Hypoplasia of the uterus | nan | UMLS:C0266399 | "Underdevelopment of the uterus." [https://orcid.org/0000-0002-0736-9199] | "Underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0008684 ! Aplasia/hypoplasia of the uterus | nan | HP:0008637 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000014 | Abnormality of the bladder | nan | UMLS:C0149632 | "An abnormality of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0010936 ! Abnormality of the lower urinary tract | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000015 | Bladder diverticulum | nan | UMLS:C0156273 | "Diverticulum (sac or pouch) in the wall of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] | "Bladder diverticula" EXACT [https://orcid.org/0000-0002-5316-1399] | HP:0025487 ! Abnormal bladder morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000016 | Urinary retention | Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. | UMLS:C0080274 | "Inability to completely empty the urinary bladder during the process of urination." [https://orcid.org/0000-0002-0736-9199] | "Increased post-void residual urine volume" EXACT [] | HP:0000009 ! Functional abnormality of the bladder | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000017 | Nocturia | Often occuring as a result of heart insufficiency. | UMLS:C0028734 | "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [https://orcid.org/0009-0006-4530-3154] | "Nycturia" EXACT [https://orcid.org/0009-0006-4530-3154] | HP:0000009 ! Functional abnormality of the bladder | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000019 | Urinary hesitancy | nan | UMLS:C0152032 | "Difficulty in beginning the process of urination." [https://orcid.org/0000-0002-0736-9199] | "Difficulty with flow" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0000009 ! Functional abnormality of the bladder | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000020 | Urinary incontinence | Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. | UMLS:C0042024 | "Loss of the ability to control the urinary bladder leading to involuntary urination." [https://orcid.org/0009-0006-4530-3154, PMID:12559262] | "Loss of bladder control" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0031064 ! Impaired continence | nan | HP:0008681 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000021 | Megacystis | nan | UMLS:C1855311 | "Dilatation of the bladder postnatally." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0010955 ! Dilatation of the bladder | nan | HP:0002838 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000022 | Abnormal male internal genitalia morphology | The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. | UMLS:C4025899 | "An abnormality of the male internal genitalia." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0010461 ! Abnormality of the male genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000023 | Inguinal hernia | Inguinal hernia appears as a bulge in the groin. | UMLS:C0019294 | "Protrusion of the contents of the abdominal cavity through the inguinal canal." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0004299 ! Hernia of the abdominal wall | nan | nan | hposlim_core | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000024 | Prostatitis | nan | UMLS:C0033581 | "The presence of inflammation of the prostate." [https://orcid.org/0000-0002-0736-9199] | "Inflammation of the prostate" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0012649 ! Increased inflammatory response | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000025 | Functional abnormality of male internal genitalia | nan | UMLS:C4025898 | nan | nan | HP:0012874 ! Abnormal male reproductive system physiology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000026 | Male hypogonadism | nan | UMLS:C0151721 | "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [https://orcid.org/0000-0002-0736-9199] | "Decreased function of male gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0000135 ! Hypogonadism | nan | HP:0008649 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000027 | Azoospermia | nan | UMLS:C0004509 | "Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet." [https://orcid.org/0000-0002-0736-9199, PMID:20514278] | "Absent sperm in semen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0008669 ! Abnormal spermatogenesis | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000028 | Cryptorchidism | The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical)... | UMLS:C0010417 | "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." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] | "Undescended testis" EXACT layperson [] | HP:0000035 ! Abnormal testis morphology | nan | HP:0000797 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000029 | Testicular atrophy | nan | UMLS:C0156312 | "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [https://orcid.org/0000-0002-0736-9199] | "Testicular degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0000035 ! Abnormal testis morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000030 | Testicular gonadoblastoma | nan | UMLS:C1515283 | "The presence of a gonadoblastoma of the testis." [https://orcid.org/0000-0002-0736-9199] | "Gonadoblastoma, male" RELATED [] | HP:0010788 ! Testicular neoplasm | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000031 | Epididymitis | nan | UMLS:C0014534 | "The presence of inflammation of the epididymis." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0012649 ! Increased inflammatory response | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000032 | Abnormal male external genitalia morphology | nan | UMLS:C4025897 | "Any structural abnormality of male external genitalia." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of male external genitalia" EXACT [] | HP:0010461 ! Abnormality of the male genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000033 | Ambiguous genitalia, male | nan | UMLS:C4021823 | "Ambiguous genitalia in an individual with XY genetic gender." [https://orcid.org/0000-0002-0736-9199] | "Ambiguous genitalia in males" EXACT layperson [] | HP:0000062 ! Ambiguous genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000034 | Hydrocele testis | nan | UMLS:C1720771 | "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [PMID:32644551] | "Testicular hydrocele" EXACT [] | HP:0000035 ! Abnormal testis morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000035 | Abnormal testis morphology | nan | UMLS:C0266423 | "An anomaly of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199] | "Anomaly of the testes" EXACT [] | HP:0000032 ! Abnormal male external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000036 | Abnormal penis morphology | nan | UMLS:C4025896 | "Abnormality of the male external sex organ." [] | "Abnormality of the penis" EXACT layperson [] | HP:0000032 ! Abnormal male external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000037 | Male pseudohermaphroditism | nan | UMLS:C0238395 | "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." [https://orcid.org/000... | nan | HP:0000032 ! Abnormal male external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000039 | Epispadias | Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternat... | UMLS:C0563449 | "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of b... | nan | HP:0100627 ! Displacement of the urethral meatus | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000040 | Long penis | Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. | UMLS:C0269011 | "Penile length more than 2 SD above the mean for age." [] | "Long penis" EXACT layperson [] | HP:0000036 ! Abnormal penis morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000041 | Chordee | The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the ... | UMLS:C0221182 | "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] | nan | HP:0000036 ! Abnormal penis morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000042 | Absent external genitalia | nan | UMLS:C1848869 | "Lack of external genitalia in a male or female individual." [https://orcid.org/0000-0002-0736-9199] | "Absent external genitalia" EXACT layperson [] | HP:0000811 ! Abnormal external genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000044 | Hypogonadotropic hypogonadism | nan | UMLS:C3489396 | "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)." [https://orcid.org/0000-0002-0736-9199, PMID:23503957] | "Low gonadotropins (secondary hypogonadism)" EXACT [] | HP:0000135 ! Hypogonadism | nan | HP:0008224 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000045 | Abnormal scrotum morphology | nan | UMLS:C4025895 | "Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord." [] | "Abnormality of the scrotum" EXACT [] | HP:0000032 ! Abnormal male external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000046 | Small scrotum | A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. | UMLS:C0431659 | "Apparently small scrotum for age." [PMID:23650202] | "Underdeveloped scrotum" EXACT layperson [] | HP:0000050 ! Hypoplastic male external genitalia | nan | HP:0030276 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000047 | Hypospadias | nan | UMLS:C1691215 | "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." [https://orcid.org/0000-0002-0736-9199, PMID:21968448] | "Hypospadia" EXACT [https://orcid.org/0000-0001-5208-3432] | HP:0100627 ! Displacement of the urethral meatus | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000048 | Bifid scrotum | A testis may or may not be present in each half of the scrotum. | UMLS:C0341787 | "Midline indentation or cleft of the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] | "Scrotal cleft" EXACT [] | HP:0000045 ! Abnormal scrotum morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000049 | Shawl scrotum | A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. | UMLS:C1858539 | "Superior margin of the scrotum superior to the base of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] | "Scrotum surrounds penis" EXACT layperson [https://orcid.org/0000-0002-6548-5200] | HP:0000045 ! Abnormal scrotum morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000050 | Hypoplastic male external genitalia | nan | UMLS:C1852534 | "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [https://orcid.org/0000-0002-0736-9199] | "Underdeveloped male genitalia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0003241 ! External genital hypoplasia | nan | HP:0008721 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000051 | Perineal hypospadias | nan | UMLS:C0452148 | "Hypospadias with location of the urethral meatus in the perineal region." [https://orcid.org/0000-0002-0736-9199, PMID:8097257] | nan | HP:0000047 ! Hypospadias | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000052 | Urethral atresia, male | nan | UMLS:C4025894 | "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0000068 ! Urethral atresia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000053 | Macroorchidism | nan | UMLS:C1263023 | "The presence of abnormally large testes." [https://orcid.org/0000-0002-0736-9199] | "Large testis" EXACT layperson [] | HP:0045058 ! Abnormality of the testis size | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000054 | Micropenis | nan | UMLS:C4551492 | "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." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] | "Small penis" EXACT layperson [] | HP:0008736 ! Hypoplasia of penis | nan | HP:0000038 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000055 | Abnormal female external genitalia morphology | nan | UMLS:C4021822 | "Any structural abnormality of the female external genitalia." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of female external genitalia" EXACT [] | HP:0010460 ! Abnormality of the female genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000056 | Abnormal clitoris morphology | nan | UMLS:C4025893 | "Any structural abnormality of the clitoris." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of the clitoris" EXACT [] | HP:0000055 ! Abnormal female external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000057 | obsolete Clitoromegaly | nan | nan | nan | nan | nan | nan | nan | nan | true | HP:0008665 | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000058 | Abnormal labia morphology | nan | UMLS:C4025892 | "An anomaly of the labia, the externally visible portions of the vulva." [https://orcid.org/0000-0002-0736-9199] | "Abnormality of the labia" EXACT [] | HP:0000055 ! Abnormal female external genitalia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000059 | Hypoplastic labia majora | nan | UMLS:C0566899 | "Undergrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199] | "Underdeveloped vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0012881 ! Abnormal labia majora morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000060 | Clitoral hypoplasia | nan | UMLS:C1844527 | "Developmental hypoplasia of the clitoris." [https://orcid.org/0000-0002-0736-9199] | "Underdeveloped clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0040255 ! Aplasia/Hypoplasia of the clitoris | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000061 | Ambiguous genitalia, female | nan | UMLS:C4025891 | "Ambiguous genitalia in an individual with XX genetic gender." [https://orcid.org/0000-0002-0736-9199] | "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200] | HP:0000062 ! Ambiguous genitalia | nan | HP:0008690 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000062 | Ambiguous genitalia | Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a mark... | UMLS:C0266362 | "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 s... | "Intersex genitalia" EXACT layperson [] | HP:0000811 ! Abnormal external genitalia | nan | HP:0008693 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000063 | Fused labia minora | nan | UMLS:C1837532 | "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [https://orcid.org/0000-0002-0736-9199] | "Fused inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0012880 ! Abnormal labia minora morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000064 | Hypoplastic labia minora | nan | UMLS:C1849295 | nan | "Underdeveloped inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0012880 ! Abnormal labia minora morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000065 | Labial hypertrophy | nan | UMLS:C0404531 | nan | "Enlargement of the vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0000058 ! Abnormal labia morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000066 | Labial hypoplasia | nan | UMLS:C1850325 | nan | "Underdeveloped labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0012815 ! Hypoplastic female external genitalia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000067 | Urethral atresia, female | nan | UMLS:C4025890 | "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [https://orcid.org/0000-0002-0736-9199] | nan | HP:0000068 ! Urethral atresia | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000068 | Urethral atresia | nan | UMLS:C1610065 | "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [https://orcid.org/0000-0002-0736-9199] | "Urethral opening absent" EXACT [] | HP:0000795 ! Abnormality of the urethra | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000069 | Abnormality of the ureter | nan | UMLS:C1840382 | "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] | "Ureteral anomalies" EXACT [] | HP:0010935 ! Abnormality of the upper urinary tract | nan | HP:0006001 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000070 | Ureterocele | nan | UMLS:C0041960 | "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] | nan | HP:0025633 ! Abnormal ureter morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000071 | Ureteral stenosis | nan | UMLS:C0521618 | "The presence of a stenotic, i.e., constricted ureter." [https://orcid.org/0000-0002-0736-9199] | "Narrowing of the ureter" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0006000 ! Ureteral obstruction | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000072 | Hydroureter | nan | UMLS:C4020897 | "The distention of the ureter with urine." [https://orcid.org/0000-0002-0736-9199, PMID:33085364] | "Wide ureter" EXACT [] | HP:0025633 ! Abnormal ureter morphology | nan | HP:0006003 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000073 | Ureteral duplication | nan | UMLS:C0221365 | "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] | "Double ureter" EXACT layperson [] | HP:0025633 ! Abnormal ureter morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000074 | Ureteropelvic junction obstruction | nan | UMLS:C0521619 | "Blockage of urine flow from the renal pelvis to the proximal ureter." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] | "Ureteropelvic junction stenosis" EXACT [] | HP:0000071 ! Ureteral stenosis | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 | nan | HP:0000075 | Renal duplication | nan | UMLS:C0266298 | "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [https://orcid.org/0000-0002-0736-9199] | "Supernumerary kidney" RELATED [] | HP:0012210 ! Abnormal renal morphology | 2008-02-25T12:45:00Z | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000076 | Vesicoureteral reflux | nan | UMLS:C0042580 | "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." [https://orcid.org/0000-0002-0736-9199] | "Vesicoureteric reflux" EXACT [] | HP:0025634 ! Abnormal ureter physiology | nan | HP:0008667 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000077 | Abnormality of the kidney | The kidney is a paired organ whose primary function is the production of urine. | UMLS:C0266292 | "An abnormality of the kidney." [https://orcid.org/0000-0002-0736-9199] | "Renal anomaly" EXACT [] | HP:0010935 ! Abnormality of the upper urinary tract | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000078 | Abnormality of the genital system | nan | UMLS:C0744356 | "An abnormality of the genital system." [https://orcid.org/0000-0002-0736-9199] | "Genital defects" EXACT layperson [] | HP:0000119 ! Abnormality of the genitourinary system | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000079 | Abnormality of the urinary system | nan | UMLS:C4021821 | "An abnormality of the urinary system." [https://orcid.org/0000-0002-0736-9199] | "Urinary tract anomalies" EXACT layperson [] | HP:0000119 ! Abnormality of the genitourinary system | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000080 | Abnormality of reproductive system physiology | nan | UMLS:C4021820 | "An abnormal functionality of the genital system." [https://orcid.org/0000-0002-0736-9199] | "Genital functional abnormality" EXACT layperson [] | HP:0000078 ! Abnormality of the genital system | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 | nan | HP:0000081 | Duplicated collecting system | nan | UMLS:C1858565 | "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 latte... | "Duplicated renal collecting system" EXACT [] | HP:0004742 ! Abnormal renal collecting system morphology | 2008-02-25T12:45:00Z | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000083 | Renal insufficiency | nan | UMLS:C1839604 | "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." [https://orcid.org/0000-0002-0736-9199] | "Renal failure in adulthood" EXACT layperson [] | HP:0012211 ! Abnormal renal physiology | nan | HP:0004723 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000085 | Horseshoe kidney | nan | UMLS:C0221353 | "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [https://orcid.org/0000-0002-0736-9199] | "Horseshoe kidneys" EXACT layperson [] | HP:0100542 ! Abnormal localization of kidney | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000086 | Ectopic kidney | nan | UMLS:C0238207 | "A developmental defect in which a kidney is located in an abnormal anatomic position." [https://orcid.org/0000-0002-0736-9199] | "Renal ectopia" EXACT [] | HP:0100542 ! Abnormal localization of kidney | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000089 | Renal hypoplasia | Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. | UMLS:C0266295 | "Hypoplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] | "Underdeveloped kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432] | HP:0008678 ! Renal hypoplasia/aplasia | nan | HP:0008641 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000090 | Nephronophthisis | Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. | UMLS:C0687120 | "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | "juvenile nephronophthisis" EXACT [] | HP:0100957 ! Abnormal renal medulla morphology | nan | HP:0004748 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000091 | Abnormal renal tubule morphology | The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. | UMLS:C4021826 | "An abnormality of the renal tubules." [https://orcid.org/0000-0002-0736-9199] | "Morphologic abnormality of the renal tubules" EXACT [] | HP:0012575 ! Abnormal nephron morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000092 | Renal tubular atrophy | Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular ba... | UMLS:C1858395 | "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." [https://orcid.org/0000-0002-0736-9199, PMID:27211375] | "Tubular atrophy" EXACT [] | HP:0032599 ! Abnormal renal tubular epithelial morphology | nan | HP:0005578 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000093 | Proteinuria | nan | UMLS:C0033687 | "Increased levels of protein in the urine." [https://orcid.org/0000-0002-0736-9199] | "Protein in urine" EXACT layperson [] | HP:0020129 ! Abnormal urine protein level | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000095 | Abnormal renal glomerulus morphology | Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to... | UMLS:C4025889 | "A structural anomaly of the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:18184729] | "Morphologic abnormality of the renal glomerulus" EXACT [] | HP:0031263 ! Abnormal renal corpuscle morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000096 | Glomerular sclerosis | nan | UMLS:C0178664 | "Accumulation of scar tissue within the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | "Renal glomerular fibrosis" BROAD [] | HP:0000095 ! Abnormal renal glomerulus morphology | nan | HP:0030761 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000097 | Focal segmental glomerulosclerosis | Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries w... | UMLS:C0017668 | "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:16164633] | "focal glomerulosclerosis" EXACT [] | HP:0000096 ! Glomerular sclerosis | nan | HP:0004747 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 | nan | HP:0000098 | Tall stature | nan | UMLS:C0241240 | "A height above that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] | "Tall stature" EXACT layperson [] | HP:0000002 ! Abnormality of body height | 2008-02-27T02:21:00Z | HP:0003516 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000099 | Glomerulonephritis | nan | UMLS:C0017658 | "Inflammation of the renal glomeruli." [https://orcid.org/0000-0002-0736-9199] | "Glomerular nephritis" EXACT [] | HP:0000123 ! Nephritis | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000100 | Nephrotic syndrome | In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. | UMLS:C0027726 | "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... | "Nephrosis" EXACT [] | HP:0012211 ! Abnormal renal physiology | nan | HP:0008727 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000103 | Polyuria | An excessive volume of urination for an adult is more than 2.5 liters of urine per day. | UMLS:C0032617 | "An increased rate of urine production." [https://orcid.org/0000-0002-0736-9199] | "Increased urine output" EXACT layperson [] | HP:0012590 ! Abnormal urine output | nan | HP:0200060 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000104 | Renal agenesis | Renal agenesis can occur as a unilateral or bilateral trait. | UMLS:C0542519 | "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [https://orcid.org/0000-0002-0736-9199] | "Renal aplasia" EXACT [] | HP:0008678 ! Renal hypoplasia/aplasia | nan | HP:0008680 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000105 | Enlarged kidney | The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. | UMLS:C0542518 | "An abnormal increase in the size of the kidney." [https://orcid.org/0000-0002-0736-9199] | "Renal enlargement" EXACT [] | HP:0012210 ! Abnormal renal morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000107 | Renal cyst | nan | UMLS:C3887499 | "A fluid filled sac in the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | "Renal cysts" RELATED [https://orcid.org/0000-0002-5316-1399] | HP:0012210 ! Abnormal renal morphology | nan | HP:0000109 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000108 | Renal corticomedullary cysts | nan | UMLS:C1968619 | "The presence of multiple cysts at the border between the renal cortex and medulla." [https://orcid.org/0000-0002-0736-9199] | "Renal corticomedullary cystic disease" RELATED [] | HP:0100957 ! Abnormal renal medulla morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000110 | Renal dysplasia | nan | UMLS:C3536714 | "The presence of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] | "Renal adysplasia" EXACT [] | HP:0012210 ! Abnormal renal morphology | nan | HP:0004721 | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000111 | Renal juxtaglomerular cell hypertrophy/hyperplasia | nan | UMLS:C1866496 | "Increased number and size of the juxtaglomerular cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] | nan | HP:0000095 ! Abnormal renal glomerulus morphology | nan | nan | nan | nan | nan | nan | nan |
nan | nan | nan | nan | nan | nan | nan | nan | nan | HP:0000112 | Nephropathy | nan | UMLS:C1408258 | "A nonspecific term referring to disease or damage of the kidneys." [https://orcid.org/0000-0002-0736-9199] | "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] | HP:0012211 ! Abnormal renal physiology | nan | nan | nan | nan | nan | nan | nan |
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