{ "HP:0000001": [ "all" ], "HP:0000002": [ "abnormality of body height" ], "HP:0000003": [ "multicystic kidney dysplasia", "multicystic dysplastic kidney", "multicystic kidney", "multicystic kidneys", "multicystic renal dysplasia" ], "HP:0004715": [ "multicystic kidney dysplasia", "multicystic dysplastic kidney", "multicystic kidney", "multicystic kidneys", "multicystic renal dysplasia" ], "HP:0000005": [ "mode of inheritance", "inheritance" ], "HP:0001453": [ "mode of inheritance", "inheritance" ], "HP:0001461": [ "mode of inheritance", "inheritance" ], "HP:0000006": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001415": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001447": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001448": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001451": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001455": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001456": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0001463": [ "autosomal dominant inheritance", "autosomal dominant", "autosomal dominant form", "autosomal dominant type" ], "HP:0000007": [ "autosomal recessive inheritance", "autosomal recessive", "autosomal recessive form", "autosomal recessive predisposition" ], "HP:0001416": [ "autosomal recessive inheritance", "autosomal recessive", "autosomal recessive form", "autosomal recessive predisposition" ], "HP:0001526": [ "autosomal recessive inheritance", "autosomal recessive", "autosomal recessive form", "autosomal recessive predisposition" ], "HP:0000008": [ "abnormal morphology of female internal genitalia", "abnormality of female internal genitalia" ], "HP:0000009": [ "functional abnormality of the bladder", "poor bladder function" ], "HP:0004424": [ "functional abnormality of the bladder", "poor bladder function" ], "HP:0008731": [ "functional abnormality of the bladder", "poor bladder function" ], "HP:0000010": [ "recurrent urinary tract infection", "recurrent urinary tract infections", "frequent urinary tract infection", "frequent urinary tract infections", "recurrent utis", "repeat bladder infection", "repeated bladder infections", "repeat urinary tract infection", "repeated urinary tract infections", "urinary tract infection", "urinary tract infections", "urinary tract infection , recurrent", "urinary tract infections , recurrent" ], "HP:0000094": [ "recurrent urinary tract infection", "recurrent urinary tract infections", "frequent urinary tract infection", "frequent urinary tract infections", "recurrent utis", "repeat bladder infection", "repeated bladder infections", "repeat urinary tract infection", "repeated urinary tract infections", "urinary tract infection", "urinary tract infections", "urinary tract infection , recurrent", "urinary tract infections , recurrent" ], "HP:0000011": [ "neurogenic bladder", "lack of bladder control due to nervous system injury" ], "HP:0000012": [ "urinary urgency", "overactive bladder", "overactive bladder syndrome", "urgency frequency syndrome" ], "HP:0000013": [ "hypoplasia of the uterus", "hypoplastic uterus", "rudimentary uterus", "small uterus", "underdeveloped uterus" ], "HP:0001154": [ "hypoplasia of the uterus", "hypoplastic uterus", "rudimentary uterus", "small uterus", "underdeveloped uterus" ], "HP:0008637": [ "hypoplasia of the uterus", "hypoplastic uterus", "rudimentary uterus", "small uterus", "underdeveloped uterus" ], "HP:0000014": [ "abnormality of the bladder" ], "HP:0000015": [ "bladder diverticulum", "bladder diverticula" ], "HP:0000016": [ "urinary retention", "increase post - void residual urine volume", "increased post - void residual urine volume" ], "HP:0000017": [ "nocturia", "nycturia" ], "HP:0000019": [ "urinary hesitancy", "difficulty with flow" ], "HP:0000020": [ "urinary incontinence", "bladder incontinence", "loss of bladder control" ], "HP:0006942": [ "urinary incontinence", "bladder incontinence", "loss of bladder control" ], "HP:0008681": [ "urinary incontinence", "bladder incontinence", "loss of bladder control" ], "HP:0000021": [ "megacystis" ], "HP:0002838": [ "megacystis" ], "HP:0000022": [ "abnormality of male internal genitalia" ], "HP:0000023": [ "inguinal hernia" ], "HP:0000024": [ "prostatitis", "inflammation of the prostate" ], "HP:0000025": [ "functional abnormality of male internal genitalia" ], "HP:0000026": [ "male hypogonadism", "decrease function of male gonad", "decreased function of male gonad" ], "HP:0008649": [ "male hypogonadism", "decrease function of male gonad", "decreased function of male gonad" ], "HP:0000027": [ "azoospermia", "absent sperm in semen" ], "HP:0000028": [ "cryptorchidism", "cryptorchism", "undescended testis", "undescended testes" ], "HP:0000797": [ "cryptorchidism", "cryptorchism", "undescended testis", "undescended testes" ], "HP:0000029": [ "testicular atrophy", "testicular degeneration" ], "HP:0000030": [ "testicular gonadoblastoma", "gonadoblastoma , male" ], "HP:0000031": [ "epididymitis" ], "HP:0000032": [ "abnormality of male external genitalia" ], "HP:0000033": [ "ambiguous genitalia , male", "ambiguous genitalia in male", "ambiguous genitalia in males" ], "HP:0000034": [ "hydrocele testis", "hydrocele", "testicular hydrocele" ], "HP:0000035": [ "abnormal testis morphology", "abnormality of the testis", "anomaly of the testis", "anomaly of the testes" ], "HP:0000036": [ "abnormal penis morphology", "abnormality of the penis" ], "HP:0000037": [ "male pseudohermaphroditism" ], "HP:0000039": [ "epispadias" ], "HP:0000040": [ "long penis", "enlarge penis", "enlarged penis" ], "HP:0000041": [ "chordee" ], "HP:0000042": [ "absent external genitalia" ], "HP:0000044": [ "hypogonadotropic hypogonadism", "hypogonadotrophic hypogonadism", "isolated hypogonadotropic hypogonadism", "low gonadotropin ( secondary hypogonadism )", "low gonadotropins ( secondary hypogonadism )", "obsolete low gonadotropin ( secondary hypogonadism )", "obsolete low gonadotropins ( secondary hypogonadism )" ], "HP:0003335": [ "hypogonadotropic hypogonadism", "hypogonadotrophic hypogonadism", "isolated hypogonadotropic hypogonadism", "low gonadotropin ( secondary hypogonadism )", "low gonadotropins ( secondary hypogonadism )", "obsolete low gonadotropin ( secondary hypogonadism )", "obsolete low gonadotropins ( secondary hypogonadism )" ], "HP:0008224": [ "hypogonadotropic hypogonadism", "hypogonadotrophic hypogonadism", "isolated hypogonadotropic hypogonadism", "low gonadotropin ( secondary hypogonadism )", "low gonadotropins ( secondary hypogonadism )", "obsolete low gonadotropin ( secondary hypogonadism )", "obsolete low gonadotropins ( secondary hypogonadism )" ], "HP:0000045": [ "abnormality of the scrotum" ], "HP:0000046": [ "scrotal hypoplasia", "hypoplastic scrotum", "small than typical growth of scrotum", "smaller than typical growth of scrotum" ], "HP:0000047": [ "hypospadias", "hypospadia" ], "HP:0000048": [ "bifid scrotum", "cleft of scrotum", "scrotal cleft" ], "HP:0000049": [ "shawl scrotum", "override scrotum", "overriding scrotum", "scrotum surround penis", "scrotum surrounds penis" ], "HP:0000050": [ "hypoplastic male external genitalia", "hypoplastic male genitalia", "small male external genitalia", "underdeveloped male genitalia" ], "HP:0008710": [ "hypoplastic male external genitalia", "hypoplastic male genitalia", "small male external genitalia", "underdeveloped male genitalia" ], "HP:0008721": [ "hypoplastic male external genitalia", "hypoplastic male genitalia", "small male external genitalia", "underdeveloped male genitalia" ], "HP:0000051": [ "perineal hypospadias" ], "HP:0000052": [ "urethral atresia , male" ], "HP:0000053": [ "macroorchidism", "large testicle", "large testicles", "large testis" ], "HP:0000054": [ "micropenis", "short penis", "small penis" ], "HP:0000038": [ "micropenis", "short penis", "small penis" ], "HP:0000055": [ "abnormality of female external genitalia", "abnormal female external genitalia" ], "HP:0000056": [ "abnormality of the clitoris", "abnormality of the clit" ], "HP:0000057": [ "obsolete clitoromegaly", "clitoral hypertrophy", "clitoral enlargement", "clitoromegaly", "enlarge clitoris", "enlarged clitoris", "hypertrophic clitoris", "prominent clitoris" ], "HP:0000058": [ "abnormal labium morphology", "abnormal labia morphology", "abnormality of the labium", "abnormality of the labia" ], "HP:0000059": [ "hypoplastic labium majora", "hypoplastic labia majora", "hypoplasia of labium majora", "hypoplasia of labia majora", "small labium majora", "small labia majora", "underdeveloped vaginal lip", "underdeveloped vaginal lips" ], "HP:0000060": [ "clitoral hypoplasia", "hypoplastic clitoris", "small clitoris", "underdeveloped clit" ], "HP:0000061": [ "ambiguous genitalia , female", "ambiguous genitalia due to virilization", "atypical appearance of female genitals" ], "HP:0008690": [ "ambiguous genitalia , female", "ambiguous genitalia due to virilization", "atypical appearance of female genitals" ], "HP:0000062": [ "ambiguous genitalia", "ambiguous external genitalia", "ambiguous external genitalia at birth", "intersex genitalia" ], "HP:0008685": [ "ambiguous genitalia", "ambiguous external genitalia", "ambiguous external genitalia at birth", "intersex genitalia" ], "HP:0008693": [ "ambiguous genitalia", "ambiguous external genitalia", "ambiguous external genitalia at birth", "intersex genitalia" ], "HP:0000063": [ "fuse labium minora", "fused labia minora", "fused inner lip", "fused inner lips" ], "HP:0000064": [ "hypoplastic labium minora", "hypoplastic labia minora", "underdeveloped inner lip", "underdeveloped inner lips" ], "HP:0000065": [ "labial hypertrophy", "enlarge vaginal lip", "enlarged vaginal lips", "enlargement of the labium", "enlargement of the labia", "enlargement of the vaginal lip", "enlargement of the vaginal lips" ], "HP:0000066": [ "labial hypoplasia", "hypoplastic labium", "hypoplastic labia", "underdeveloped labium", "underdeveloped labia" ], "HP:0000067": [ "urethral atresia , female" ], "HP:0000068": [ "urethral atresia", "absent urethral opening", "urethral opening absent" ], "HP:0000069": [ "abnormality of the ureter", "abnormality of the ureters", "ureter issue", "ureteral anomaly", "ureteral anomalies" ], "HP:0006001": [ "abnormality of the ureter", "abnormality of the ureters", "ureter issue", "ureteral anomaly", "ureteral anomalies" ], "HP:0000070": [ "ureterocele" ], "HP:0000071": [ "ureteral stenosis", "narrowing of the ureter" ], "HP:0000072": [ "hydroureter", "dilate ureter", "dilated ureter", "megaureter", "swell of ureter", "swelling of ureter", "ureteral dilatation", "uroureter", "wide ureter" ], "HP:0006003": [ "hydroureter", "dilate ureter", "dilated ureter", "megaureter", "swell of ureter", "swelling of ureter", "ureteral dilatation", "uroureter", "wide ureter" ], "HP:0000073": [ "ureteral duplication", "double ureter" ], "HP:0000074": [ "ureteropelvic junction obstruction", "pelviureteric junction obstruction", "ureteropelvic junction stenosis" ], "HP:0000075": [ "renal duplication", "extra kidney", "supernumerary kidney" ], "HP:0000076": [ "vesicoureteral reflux", "ureteral reflux", "ureteric reflux", "vesico - ureteral reflux", "vesicoureteric reflux" ], "HP:0005998": [ "vesicoureteral reflux", "ureteral reflux", "ureteric reflux", "vesico - ureteral reflux", "vesicoureteric reflux" ], "HP:0006002": [ "vesicoureteral reflux", "ureteral reflux", "ureteric reflux", "vesico - ureteral reflux", "vesicoureteric reflux" ], "HP:0008667": [ "vesicoureteral reflux", "ureteral reflux", "ureteric reflux", "vesico - ureteral reflux", "vesicoureteric reflux" ], "HP:0000077": [ "abnormality of the kidney", "abnormal kidney", "renal anomaly", "renal anomalies" ], "HP:0000078": [ "abnormality of the genital system", "abnormality of the reproductive system", "genital abnormality", "genital abnormalities", "genital anomaly", "genital anomalies", "genital defect", "genital defects" ], "HP:0000079": [ "abnormality of the urinary system", "urinary tract abnormality", "urinary tract abnormalities", "urinary tract anomaly", "urinary tract anomalies" ], "HP:0000080": [ "abnormality of reproductive system physiology", "abnormality of genital physiology", "genital functional abnormality" ], "HP:0000081": [ "duplicate collecting system", "duplicated collecting system", "double collect system", "double collecting system", "double urinary collect system on intravenous pyelography", "double urinary collecting systems on intravenous pyelography", "duplex collect system", "duplex collecting system", "duplicate renal collecting system", "duplicated renal collecting system" ], "HP:0000083": [ "renal insufficiency", "renal failure", "renal failure in adulthood" ], "HP:0000084": [ "renal insufficiency", "renal failure", "renal failure in adulthood" ], "HP:0004723": [ "renal insufficiency", "renal failure", "renal failure in adulthood" ], "HP:0000085": [ "horseshoe kidney", "fuse kidney", "fused kidneys", "horseshoe kidneys" ], "HP:0000086": [ "ectopic kidney", "abnormal kidney location", "displace kidney", "displaced kidney", "ectopic kidneys", "renal ectopia" ], "HP:0000089": [ "renal hypoplasia", "hypoplastic kidney", "hypoplastic kidneys", "small kidney", "small kidneys", "underdeveloped kidney", "underdeveloped kidneys" ], "HP:0001968": [ "renal hypoplasia", "hypoplastic kidney", "hypoplastic kidneys", "small kidney", "small kidneys", "underdeveloped kidney", "underdeveloped kidneys" ], "HP:0004741": [ "renal hypoplasia", "hypoplastic kidney", "hypoplastic kidneys", "small kidney", "small kidneys", "underdeveloped kidney", "underdeveloped kidneys" ], "HP:0008641": [ "renal hypoplasia", "hypoplastic kidney", "hypoplastic kidneys", "small kidney", "small kidneys", "underdeveloped kidney", "underdeveloped kidneys" ], "HP:0000090": [ "nephronophthisis", "juvenile nephronophthisis" ], "HP:0004748": [ "nephronophthisis", "juvenile nephronophthisis" ], "HP:0000091": [ "abnormal renal tubule morphology", "abnormality of the renal tubule", "morphologic abnormality of the renal tubule", "morphologic abnormality of the renal tubules" ], "HP:0000092": [ "renal tubular atrophy", "renal tubular cell atrophy", "tubular atrophy" ], "HP:0005578": [ "renal tubular atrophy", "renal tubular cell atrophy", "tubular atrophy" ], "HP:0000093": [ "proteinuria", "high urine protein level", "high urine protein levels", "protein in urine" ], "HP:0000095": [ "abnormal renal glomerulus morphology", "abnormality of renal glomerulus morphology", "morphologic abnormality of the renal glomerulus" ], "HP:0000096": [ "glomerular sclerosis", "glomerulosclerosis", "renal glomerular fibrosis", "obsolete renal glomerular fibrosis" ], "HP:0030761": [ "glomerular sclerosis", "glomerulosclerosis", "renal glomerular fibrosis", "obsolete renal glomerular fibrosis" ], "HP:0000097": [ "focal segmental glomerulosclerosis", "focal and segmental glomerular sclerosis", "focal and segmental glomerulosclerosis", "focal glomerulosclerosis" ], "HP:0004747": [ "focal segmental glomerulosclerosis", "focal and segmental glomerular sclerosis", "focal and segmental glomerulosclerosis", "focal glomerulosclerosis" ], "HP:0000098": [ "tall stature", "accelerate linear growth", "accelerated linear growth", "increase body height", "increased body height", "increase linear growth", "increased linear growth" ], "HP:0001527": [ "tall stature", "accelerate linear growth", "accelerated linear growth", "increase body height", "increased body height", "increase linear growth", "increased linear growth" ], "HP:0003515": [ "tall stature", "accelerate linear growth", "accelerated linear growth", "increase body height", "increased body height", "increase linear growth", "increased linear growth" ], "HP:0003516": [ "tall stature", "accelerate linear growth", "accelerated linear growth", "increase body height", "increased body height", "increase linear growth", "increased linear growth" ], "HP:0000099": [ "glomerulonephritis", "glomerular nephritis" ], "HP:0000100": [ "nephrotic syndrome", "nephrosis" ], "HP:0000801": [ "nephrotic syndrome", "nephrosis" ], "HP:0004718": [ "nephrotic syndrome", "nephrosis" ], "HP:0008638": [ "nephrotic syndrome", "nephrosis" ], "HP:0008727": [ "nephrotic syndrome", "nephrosis" ], "HP:0000103": [ "polyuria", "increase urine output", "increased urine output" ], "HP:0200060": [ "polyuria", "increase urine output", "increased urine output" ], "HP:0000104": [ "renal agenesis", "absent kidney", "miss kidney", "missing kidney", "renal aplasia" ], "HP:0000785": [ "renal agenesis", "absent kidney", "miss kidney", "missing kidney", "renal aplasia" ], "HP:0004745": [ "renal agenesis", "absent kidney", "miss kidney", "missing kidney", "renal aplasia" ], "HP:0008680": [ "renal agenesis", "absent kidney", "miss kidney", "missing kidney", "renal aplasia" ], "HP:0000105": [ "enlarge kidney", "enlarged kidney", "large kidney", "large kidneys", "nephromegaly", "renal enlargement" ], "HP:0000107": [ "renal cyst", "cystic kidney disease", "cystic kidney", "cystic kidneys", "kidney cyst", "renal cysts" ], "HP:0000088": [ "renal cyst", "cystic kidney disease", "cystic kidney", "cystic kidneys", "kidney cyst", "renal cysts" ], "HP:0000109": [ "renal cyst", "cystic kidney disease", "cystic kidney", "cystic kidneys", "kidney cyst", "renal cysts" ], "HP:0000108": [ "renal corticomedullary cyst", "renal corticomedullary cysts", "corticomedullary renal cyst", "corticomedullary renal cysts", "renal corticomedullary cystic disease" ], "HP:0000110": [ "renal dysplasia", "dysplastic kidney", "dysplastic kidneys", "renal adysplasia" ], "HP:0000116": [ "renal dysplasia", "dysplastic kidney", "dysplastic kidneys", "renal adysplasia" ], "HP:0004721": [ "renal dysplasia", "dysplastic kidney", "dysplastic kidneys", "renal adysplasia" ], "HP:0000111": [ "renal juxtaglomerular cell hypertrophy / hyperplasia" ], "HP:0000112": [ "nephropathy", "kidney damage", "kidney disease" ], "HP:0000113": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0004716": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0004739": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0004740": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0008645": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0008673": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0008699": [ "polycystic kidney dysplasia", "enlarge polycystic kidney", "enlarged polycystic kidneys", "polycystic kidney disease", "polycystic kidney", "polycystic kidneys" ], "HP:0000114": [ "proximal tubulopathy", "proximal renal tubule defect", "proximal renal tubulopathy", "proximal tubular defect", "proximal tubule dysfunction", "selective proximal tubular damage" ], "HP:0000806": [ "proximal tubulopathy", "proximal renal tubule defect", "proximal renal tubulopathy", "proximal tubular defect", "proximal tubule dysfunction", "selective proximal tubular damage" ], "HP:0000117": [ "renal phosphate wasting", "decrease renal tubular phosphate reabsorption", "decreased renal tubular phosphate reabsorption", "decrease tubular maximum for phosphate reabsorption per glomerular filtration rate", "decreased tubular maximum for phosphate reabsorption per glomerular filtration rate", "tubular phosphate reabsorption low" ], "HP:0000118": [ "phenotypic abnormality", "organ abnormality" ], "HP:0000119": [ "abnormality of the genitourinary system", "abnormality of the gu system", "genitourinary abnormality", "genitourinary disease", "genitourinary dysplasia", "genitourinary tract anomaly", "genitourinary tract anomalies", "genitourinary tract malformation", "urogenital abnormality", "urogenital abnormalities", "urogenital anomaly", "urogenital anomalies" ], "HP:0008658": [ "abnormality of the genitourinary system", "abnormality of the gu system", "genitourinary abnormality", "genitourinary disease", "genitourinary dysplasia", "genitourinary tract anomaly", "genitourinary tract anomalies", "genitourinary tract malformation", "urogenital abnormality", "urogenital abnormalities", "urogenital anomaly", "urogenital anomalies" ], "HP:0008688": [ "abnormality of the genitourinary system", "abnormality of the gu system", "genitourinary abnormality", "genitourinary disease", "genitourinary dysplasia", "genitourinary tract anomaly", "genitourinary tract anomalies", "genitourinary tract malformation", "urogenital abnormality", "urogenital abnormalities", "urogenital anomaly", "urogenital anomalies" ], "HP:0008704": [ "abnormality of the genitourinary system", "abnormality of the gu system", "genitourinary abnormality", "genitourinary disease", "genitourinary dysplasia", "genitourinary tract anomaly", "genitourinary tract anomalies", "genitourinary tract malformation", "urogenital abnormality", "urogenital abnormalities", "urogenital anomaly", "urogenital anomalies" ], "HP:0008713": [ "abnormality of the genitourinary system", "abnormality of the gu system", "genitourinary abnormality", "genitourinary disease", "genitourinary dysplasia", "genitourinary tract anomaly", "genitourinary tract anomalies", "genitourinary tract malformation", "urogenital abnormality", "urogenital abnormalities", "urogenital anomaly", "urogenital anomalies" ], "HP:0000121": [ "nephrocalcinosis", "increased calcium level in kidney", "too much calcium deposit in kidney", "too much calcium deposited in kidneys" ], "HP:0000122": [ "unilateral renal agenesis", "absent kidney on one side", "miss one kidney", "missing one kidney", "single kidney", "unilateral kidney agenesis" ], "HP:0000123": [ "nephritis", "kidney inflammation" ], "HP:0008634": [ "nephritis", "kidney inflammation" ], "HP:0000124": [ "renal tubular dysfunction", "abnormal function of filtrate structure in kidney", "abnormal function of filtrating structures in kidney", "renal tubular defect", "renal tubular disease" ], "HP:0000125": [ "pelvic kidney", "sacral kidney" ], "HP:0000126": [ "hydronephrosis" ], "HP:0000127": [ "renal salt waste", "renal salt wasting", "loss of salt in urine", "renal salt - wasting", "salt waste", "salt wasting", "salt - wasting" ], "HP:0000128": [ "renal potassium wasting", "renal k waste", "renal k wasting" ], "HP:0000130": [ "abnormality of the uterus", "uterine abnormality", "uterine abnormalities", "uterine malformation", "uterine malformations" ], "HP:0008630": [ "abnormality of the uterus", "uterine abnormality", "uterine abnormalities", "uterine malformation", "uterine malformations" ], "HP:0008692": [ "abnormality of the uterus", "uterine abnormality", "uterine abnormalities", "uterine malformation", "uterine malformations" ], "HP:0000131": [ "uterine leiomyoma", "benign uterine leiomyoma", "benign uterine leiomyomas", "uterine fibroid" ], "HP:0008642": [ "uterine leiomyoma", "benign uterine leiomyoma", "benign uterine leiomyomas", "uterine fibroid" ], "HP:0000132": [ "menorrhagia", "abnormally heavy bleeding during menstruation", "abnormally heavy period", "abnormally heavy periods", "hypermenorrhea", "obsolete hypermenorrhea" ], "HP:0100609": [ "menorrhagia", "abnormally heavy bleeding during menstruation", "abnormally heavy period", "abnormally heavy periods", "hypermenorrhea", "obsolete hypermenorrhea" ], "HP:0000133": [ "gonadal dysgenesis", "mixed gonadal dysgenesis", "pure gonadal dysgenesis" ], "HP:0003243": [ "gonadal dysgenesis", "mixed gonadal dysgenesis", "pure gonadal dysgenesis" ], "HP:0000134": [ "female hypogonadism", "hypogonadism , female" ], "HP:0000135": [ "hypogonadism", "decreased activity of gonad", "decreased activity of gonads" ], "HP:0000136": [ "bifid uterus" ], "HP:0000137": [ "abnormality of the ovary", "abnormality of the ovaries", "ovarian disease" ], "HP:0000138": [ "ovarian cyst", "cystic abnormality of the ovary", "cystic abnormalities of the ovaries", "cystic ovary", "cystic ovaries", "ovarian cystic abnormality" ], "HP:0000146": [ "ovarian cyst", "cystic abnormality of the ovary", "cystic abnormalities of the ovaries", "cystic ovary", "cystic ovaries", "ovarian cystic abnormality" ], "HP:0000139": [ "uterine prolapse", "sag uterus", "sagging uterus" ], "HP:0100824": [ "uterine prolapse", "sag uterus", "sagging uterus" ], "HP:0000140": [ "abnormality of the menstrual cycle", "menstrual abnormality", "menstrual abnormalities" ], "HP:0000141": [ "amenorrhea", "abnormal absence of menstruation" ], "HP:0000142": [ "abnormal vagina morphology", "vaginal malformation" ], "HP:0008650": [ "abnormal vagina morphology", "vaginal malformation" ], "HP:0000143": [ "rectovaginal fistula", "abnormal connection between rectum and vagina" ], "HP:0000144": [ "decrease fertility", "decreased fertility", "abnormal fertility" ], "HP:0000145": [ "transverse vaginal septum", "transverse vaginal membrane" ], "HP:0000147": [ "polycystic ovary", "polycystic ovaries", "polycystic ovary disease", "sclerocystic ovary", "sclerocystic ovaries" ], "HP:0008644": [ "polycystic ovary", "polycystic ovaries", "polycystic ovary disease", "sclerocystic ovary", "sclerocystic ovaries" ], "HP:0008657": [ "polycystic ovary", "polycystic ovaries", "polycystic ovary disease", "sclerocystic ovary", "sclerocystic ovaries" ], "HP:0000148": [ "vaginal atresia", "abnormally close or absent vagina", "abnormally closed or absent vagina" ], "HP:0000149": [ "ovarian gonadoblastoma", "gonadoblastoma , female" ], "HP:0000150": [ "gonadoblastoma" ], "HP:0006745": [ "gonadoblastoma" ], "HP:0000151": [ "aplasia of the uterus", "absent uterus", "uterus absent" ], "HP:0000152": [ "abnormality of head or neck", "head and neck abnormality" ], "HP:0000153": [ "abnormality of the mouth", "abnormal mouth" ], "HP:0000154": [ "wide mouth", "broad mouth", "large mouth", "large oral aperture", "macrostomia" ], "HP:0000181": [ "wide mouth", "broad mouth", "large mouth", "large oral aperture", "macrostomia" ], "HP:0002052": [ "wide mouth", "broad mouth", "large mouth", "large oral aperture", "macrostomia" ], "HP:0000155": [ "oral ulcer", "mouth sore", "mouth ulcer", "oral mucosal ulceration" ], "HP:0000157": [ "abnormality of the tongue", "abnormal tongue", "glossal abnormality", "lingual abnormality", "tongue abnormality" ], "HP:0000158": [ "macroglossia", "abnormally large tongue", "glossal hypertrophy", "hyperplasia of the tongue", "hypertrophy of the tongue", "increase size of tongue", "increased size of tongue", "large tongue", "lingual hyperplasia", "lingual hypertrophy", "tongue hypertrophy" ], "HP:0000203": [ "macroglossia", "abnormally large tongue", "glossal hypertrophy", "hyperplasia of the tongue", "hypertrophy of the tongue", "increase size of tongue", "increased size of tongue", "large tongue", "lingual hyperplasia", "lingual hypertrophy", "tongue hypertrophy" ], "HP:0000159": [ "abnormal lip morphology", "abnormal lip", "abnormality of the lip", "anomaly of lip", "deformity of lip", "lip abnormality", "malformation of lip" ], "HP:0000160": [ "narrow mouth", "microstomia", "small mouth", "small oral aperture" ], "HP:0002261": [ "narrow mouth", "microstomia", "small mouth", "small oral aperture" ], "HP:0009095": [ "narrow mouth", "microstomia", "small mouth", "small oral aperture" ], "HP:0009096": [ "narrow mouth", "microstomia", "small mouth", "small oral aperture" ], "HP:0000161": [ "median cleft lip", "central cleft upper lip", "midline cleft lip" ], "HP:0000162": [ "glossoptosis", "lingual retraction", "posterior displacement of the tongue", "retraction of the tongue" ], "HP:0000163": [ "abnormal oral cavity morphology", "abnormality of the oral cavity" ], "HP:0000164": [ "abnormality of the dentition", "abnormal dentition", "abnormal teeth", "abnormality of the teeth", "dental abnormality", "dental abnormalities", "dental anomaly", "dental anomalies", "dental problem", "dental problems", "tooth abnormality", "tooth abnormalities" ], "HP:0001567": [ "abnormality of the dentition", "abnormal dentition", "abnormal teeth", "abnormality of the teeth", "dental abnormality", "dental abnormalities", "dental anomaly", "dental anomalies", "dental problem", "dental problems", "tooth abnormality", "tooth abnormalities" ], "HP:0006296": [ "abnormality of the dentition", "abnormal dentition", "abnormal teeth", "abnormality of the teeth", "dental abnormality", "dental abnormalities", "dental anomaly", "dental anomalies", "dental problem", "dental problems", "tooth abnormality", "tooth abnormalities" ], "HP:0006348": [ "abnormality of the dentition", "abnormal dentition", "abnormal teeth", "abnormality of the teeth", "dental abnormality", "dental abnormalities", "dental anomaly", "dental anomalies", "dental problem", "dental problems", "tooth abnormality", "tooth abnormalities" ], "HP:0000166": [ "severe periodontitis", "severe gum disease", "severe periodontal disease", "severe pyorrhea" ], "HP:0000168": [ "abnormality of the gingiva", "abnormality of the gum", "abnormality of the gums", "gingival abnormality" ], "HP:0000169": [ "gingival fibromatosis", "gingival fibroma", "gingival fibrous nodule", "gingival fibrous nodules", "hereditary gingival fibromatosis", "idiopathic gingival hyperplasia" ], "HP:0000171": [ "microglossia", "abnormally small tongue", "decreased size of tongue", "hypoglossia", "hypoplasia of the tongue", "hypoplastic tongue", "lingual hypoplasia", "rudimentary tongue", "small tongue", "underdevelopment of the tongue" ], "HP:0000226": [ "microglossia", "abnormally small tongue", "decreased size of tongue", "hypoglossia", "hypoplasia of the tongue", "hypoplastic tongue", "lingual hypoplasia", "rudimentary tongue", "small tongue", "underdevelopment of the tongue" ], "HP:0009079": [ "microglossia", "abnormally small tongue", "decreased size of tongue", "hypoglossia", "hypoplasia of the tongue", "hypoplastic tongue", "lingual hypoplasia", "rudimentary tongue", "small tongue", "underdevelopment of the tongue" ], "HP:0000172": [ "abnormal uvula morphology", "abnormality of palatine uvula", "abnormality of the uvula" ], "HP:0000174": [ "abnormal palate morphology", "abnormality of the palate", "abnormality of the roof of the mouth", "palatal anomaly", "palate abnormality" ], "HP:0000175": [ "cleft palate", "cleft hard and soft palate", "cleft of hard and soft palate", "cleft of palate", "cleft roof of mouth", "cleft secondary palate", "palatoschisis", "uranostaphyloschisis", "obsolete cleft secondary palate" ], "HP:0410004": [ "cleft palate", "cleft hard and soft palate", "cleft of hard and soft palate", "cleft of palate", "cleft roof of mouth", "cleft secondary palate", "palatoschisis", "uranostaphyloschisis", "obsolete cleft secondary palate" ], "HP:0000176": [ "submucous cleft hard palate", "partial thickness cleave hard palate", "partial thickness cleft hard palate", "submucosal cleft palate", "submucous clefting" ], "HP:0000208": [ "submucous cleft hard palate", "partial thickness cleave hard palate", "partial thickness cleft hard palate", "submucosal cleft palate", "submucous clefting" ], "HP:0002746": [ "submucous cleft hard palate", "partial thickness cleave hard palate", "partial thickness cleft hard palate", "submucosal cleft palate", "submucous clefting" ], "HP:0009091": [ "submucous cleft hard palate", "partial thickness cleave hard palate", "partial thickness cleft hard palate", "submucosal cleft palate", "submucous clefting" ], "HP:0000177": [ "abnormality of upper lip", "anomaly of the upper lip", "deformity of the upper lip", "malformation of the upper lip" ], "HP:0000178": [ "abnormality of low lip", "abnormality of lower lip", "anomaly of the low lip", "anomaly of the lower lip", "deformity of the low lip", "deformity of the lower lip", "malformation of the low lip", "malformation of the lower lip" ], "HP:0000179": [ "thick low lip vermilion", "thick lower lip vermilion", "full low lip", "full lower lip", "full low lip vermilion", "full lower lip vermilion", "increase height of low lip vermilion", "increased height of lower lip vermilion", "increased volume of low lip", "increased volume of lower lip", "increased volume of low lip vermilion", "increased volume of lower lip vermilion", "plump lower lip", "prominent low lip", "prominent lower lip", "prominent low lip vermilion", "prominent lower lip vermilion", "thick low lip", "thick lower lip", "thick red part of the low lip", "thick red part of the lower lip", "thick vermilion border of low lip", "thick vermilion border of lower lip" ], "HP:0000170": [ "thick low lip vermilion", "thick lower lip vermilion", "full low lip", "full lower lip", "full low lip vermilion", "full lower lip vermilion", "increase height of low lip vermilion", "increased height of lower lip vermilion", "increased volume of low lip", "increased volume of lower lip", "increased volume of low lip vermilion", "increased volume of lower lip vermilion", "plump lower lip", "prominent low lip", "prominent lower lip", "prominent low lip vermilion", "prominent lower lip vermilion", "thick low lip", "thick lower lip", "thick red part of the low lip", "thick red part of the lower lip", "thick vermilion border of low lip", "thick vermilion border of lower lip" ], "HP:0000180": [ "lobulated tongue", "bumpy tongue", "lingual lobule", "lingual lobules", "lobulate tongue" ], "HP:0000182": [ "movement abnormality of the tongue", "abnormality of lingual movement" ], "HP:0000183": [ "difficulty in tongue movement", "difficulty in tongue movements", "difficulty in lingual movement", "difficulty in lingual movements", "hypokinesia of the tongue", "lingual hypokinesia" ], "HP:0000185": [ "cleft soft palate", "cleft muscular palate", "cleft of soft palate", "cleft velum" ], "HP:0000187": [ "broad alveolar ridge", "broad alveolar ridges", "broad alveolar margin", "broad alveolar margins", "broad alveolar process of jaw", "broad alveolar processes of jaw", "wide alveolar margin", "wide alveolar margins", "wide alveolar process of jaw", "wide alveolar processes of jaw", "wide gum ridge", "wide gum ridges", "widen alveolar ridge", "widened alveolar ridges" ], "HP:0000188": [ "short upper lip", "decreased height of upper lip", "decrease upper labial height", "decreased upper labial height", "decrease upper labial length", "decreased upper labial length", "decreased vertical length of upper lip", "shortening of upper lip", "vertical deficiency of upper lip" ], "HP:0200087": [ "short upper lip", "decreased height of upper lip", "decrease upper labial height", "decreased upper labial height", "decrease upper labial length", "decreased upper labial length", "decreased vertical length of upper lip", "shortening of upper lip", "vertical deficiency of upper lip" ], "HP:0000189": [ "narrow palate", "decrease palatal width", "decreased palatal width", "decreased transverse dimension of palate", "narrow roof of mouth" ], "HP:0000190": [ "abnormal oral frenulum morphology", "abnormality of frenum of tongue", "abnormality of lingual frenum", "abnormality of oral frenula", "abnormality of oral frenum" ], "HP:0000191": [ "accessory oral frenulum", "accessory oral frenum", "extra oral frenulum", "extra oral frenum", "multiple oral frenula", "supernumerary oral frenulum", "supernumerary oral frenum" ], "HP:0000193": [ "bifid uvula", "bifid palatine uvula", "cleft of uvula", "cleft uvula", "fork uvula", "forked uvula", "split uvula", "uvula bifida", "obsolete cleft of uvula" ], "HP:0000173": [ "bifid uvula", "bifid palatine uvula", "cleft of uvula", "cleft uvula", "fork uvula", "forked uvula", "split uvula", "uvula bifida", "obsolete cleft of uvula" ], "HP:0410032": [ "bifid uvula", "bifid palatine uvula", "cleft of uvula", "cleft uvula", "fork uvula", "forked uvula", "split uvula", "uvula bifida", "obsolete cleft of uvula" ], "HP:0000194": [ "open mouth", "gap jaw appearance", "gaped jawed appearance", "gap mouth appearance", "gaped mouthed appearance", "open mouth appearance", "slack jaw appearance", "slack jawed appearance" ], "HP:0000196": [ "low lip pit", "lower lip pit" ], "HP:0000197": [ "abnormal parotid gland morphology", "abnormality of parotid gland", "anomaly of the parotid gland" ], "HP:0000198": [ "absence of stensen duct", "absence of parotid duct", "absent stensen duct", "agenesis of parotid duct", "agenesis of stensen duct", "failure of development of parotid duct", "failure of development of stensen duct", "miss parotid duct", "missing parotid duct", "miss stensen duct", "missing stensen duct" ], "HP:0000199": [ "tongue nodule", "tongue nodules", "lingual nodule", "lingual nodules" ], "HP:0000200": [ "short lingual frenulum", "deficiency of lingual frenulum", "hypoplasia of lingual frenulum", "hypoplasia of lingual frenum", "hypoplasia of tongue frenulum", "hypoplasia of tongue frenum", "short lingual frenum", "short tongue frenulum", "short tongue frenum", "tight lingual frenulum" ], "HP:0000201": [ "pierre - robin sequence", "pierre robin sequence", "pierre - robin anomaly", "pierre - robin deformity", "pierre - robin malformation", "robin sequence" ], "HP:0000202": [ "oral cleft", "cleft lip , cleft palate", "cleft lip / palate", "cleft of the mouth", "oral clefting" ], "HP:0000204": [ "cleft upper lip", "cheiloschisis of upper lip", "cleft of upper lip", "harelip" ], "HP:0000205": [ "purse lip", "pursed lips", "tightly close lip", "tightly closed lips" ], "HP:0000206": [ "glossitis", "inflammation of the tongue", "lingual inflammation", "smooth swollen tongue" ], "HP:0000207": [ "triangular mouth", "triangular shape mouth", "triangular shaped mouth", "triangular shape oral aperture", "triangular shaped oral aperture" ], "HP:0000211": [ "trismus", "decrease in jaw mobility", "decrease in jaw movement", "decrease in jaw opening", "decrease in mandibular mobility", "decrease in mandibular movement", "decrease in mandibular opening", "limited jaw mobility", "limited jaw movement", "limited jaw opening", "limited mandibular mobility", "limited mandibular opening", "limited mouth opening", "lockjaw", "pain of muscle of mastication", "pain of muscles of mastication" ], "HP:0000212": [ "gingival overgrowth", "gingival enlargement", "gingival hyperplasia", "gum enlargement", "gum hypertrophy", "hypertrophic gingivitis", "oral soft tissue hyperplasia" ], "HP:0000195": [ "gingival overgrowth", "gingival enlargement", "gingival hyperplasia", "gum enlargement", "gum hypertrophy", "hypertrophic gingivitis", "oral soft tissue hyperplasia" ], "HP:0000214": [ "lip telangiectasia", "angioectasias of the lip", "labial angioectasias", "labial telangiectasia", "lip telangiectases", "spider vein of the lip", "spider veins of the lip", "telangiectasia of the lip", "telangiectasia of the lips" ], "HP:0000215": [ "thick upper lip vermilion", "full upper lip", "full upper lip vermilion", "increase height of upper lip vermilion", "increased height of upper lip vermilion", "increased volume of upper lip", "increased volume of upper lip vermilion", "plump upper lip", "prominent upper lip", "prominent upper lip vermilion", "thick red part of the upper lip", "thick upper lip", "thick vermilion border of upper lip" ], "HP:0000231": [ "thick upper lip vermilion", "full upper lip", "full upper lip vermilion", "increase height of upper lip vermilion", "increased height of upper lip vermilion", "increased volume of upper lip", "increased volume of upper lip vermilion", "plump upper lip", "prominent upper lip", "prominent upper lip vermilion", "thick red part of the upper lip", "thick upper lip", "thick vermilion border of upper lip" ], "HP:0000216": [ "broad secondary alveolar ridge", "secondary alveolar ridge", "secondary alveolar ridges" ], "HP:0000217": [ "xerostomia", "decrease salivary flow", "decreased salivary flow", "dry mouth", "dry mouth syndrome", "reduce salivation", "reduced salivation" ], "HP:0002709": [ "xerostomia", "decrease salivary flow", "decreased salivary flow", "dry mouth", "dry mouth syndrome", "reduce salivation", "reduced salivation" ], "HP:0100756": [ "xerostomia", "decrease salivary flow", "decreased salivary flow", "dry mouth", "dry mouth syndrome", "reduce salivation", "reduced salivation" ], "HP:0000218": [ "high palate", "elevate palate", "elevated palate", "high arch palate", "high arched palate", "high , arched palate", "high - arched palate", "increase palatal height", "increased palatal height", "ogival palate", "palate high - arch", "palate high - arched", "palate , high - arch", "palate , high - arched" ], "HP:0000156": [ "high palate", "elevate palate", "elevated palate", "high arch palate", "high arched palate", "high , arched palate", "high - arched palate", "increase palatal height", "increased palatal height", "ogival palate", "palate high - arch", "palate high - arched", "palate , high - arch", "palate , high - arched" ], "HP:0009080": [ "high palate", "elevate palate", "elevated palate", "high arch palate", "high arched palate", "high , arched palate", "high - arched palate", "increase palatal height", "increased palatal height", "ogival palate", "palate high - arch", "palate high - arched", "palate , high - arch", "palate , high - arched" ], "HP:0009082": [ "high palate", "elevate palate", "elevated palate", "high arch palate", "high arched palate", "high , arched palate", "high - arched palate", "increase palatal height", "increased palatal height", "ogival palate", "palate high - arch", "palate high - arched", "palate , high - arch", "palate , high - arched" ], "HP:0009097": [ "high palate", "elevate palate", "elevated palate", "high arch palate", "high arched palate", "high , arched palate", "high - arched palate", "increase palatal height", "increased palatal height", "ogival palate", "palate high - arch", "palate high - arched", "palate , high - arch", "palate , high - arched" ], "HP:0000219": [ "thin upper lip vermilion", "decreased height of upper lip vermilion", "decreased volume of upper lip", "decreased volume of upper lip vermilion", "thin red part of the upper lip", "thin upper lip", "thin upper lips", "thin vermilion border of upper lip" ], "HP:0200062": [ "thin upper lip vermilion", "decreased height of upper lip vermilion", "decreased volume of upper lip", "decreased volume of upper lip vermilion", "thin red part of the upper lip", "thin upper lip", "thin upper lips", "thin vermilion border of upper lip" ], "HP:0200086": [ "thin upper lip vermilion", "decreased height of upper lip vermilion", "decreased volume of upper lip", "decreased volume of upper lip vermilion", "thin red part of the upper lip", "thin upper lip", "thin upper lips", "thin vermilion border of upper lip" ], "HP:0000220": [ "velopharyngeal insufficiency", "velopharyngeal dysfunction", "velopharyngeal incompetence" ], "HP:0000221": [ "furrow tongue", "furrowed tongue", "fissure tongue", "fissured tongue", "groove tongue", "grooved tongue", "lingual furrow", "lingue plicata", "plicate tongue", "plicated tongue", "prominent tongue groove", "prominent tongue grooves", "scrotal tongue" ], "HP:0000222": [ "gingival hyperkeratosis", "hyperkeratosis , gingival" ], "HP:0007539": [ "gingival hyperkeratosis", "hyperkeratosis , gingival" ], "HP:0000223": [ "abnormality of taste sensation" ], "HP:0000224": [ "hypogeusia", "decrease taste", "decreased taste", "decrease taste sensation", "decreased taste sensation" ], "HP:0000225": [ "gingival bleeding", "bleeding gum", "bleeding gums", "gingival haemorrhage", "gingival hemorrhage", "gingivorrhagia" ], "HP:0000167": [ "gingival bleeding", "bleeding gum", "bleeding gums", "gingival haemorrhage", "gingival hemorrhage", "gingivorrhagia" ], "HP:0000227": [ "tongue telangiectasia", "angioectasias of the tongue", "lingual angioectasias", "lingual telangiectasia", "spider vein of the tongue", "spider veins of the tongue" ], "HP:0000228": [ "oral cavity telangiectasia", "angioectasias of the mouth", "angioectasias of the oral cavity", "oral cavity teleangiectasia", "spider vein of the mouth", "spider veins of the mouth", "spider vein of the oral cavity", "spider veins of the oral cavity" ], "HP:0000230": [ "gingivitis", "gingival inflammation", "inflame gum", "inflamed gums", "red and swollen gum", "red and swollen gums" ], "HP:0000232": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0000184": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0002264": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0002712": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0004665": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0009086": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0009093": [ "evert low lip vermilion", "everted lower lip vermilion", "droop low lip", "drooping lower lip", "eclabium of low lip", "eclabium of lower lip", "evert low lip", "everted lower lip", "evert prominent low lip", "everted prominent lower lip", "outward turn low lip", "outward turned lower lip", "protrude low lip", "protruding lower lip" ], "HP:0000233": [ "thin vermilion border", "decreased volume of lip", "decreased volume of lip vermillion", "thin lip", "thin lips", "thin vermilion borders", "thin vermillion" ], "HP:0000213": [ "thin vermilion border", "decreased volume of lip", "decreased volume of lip vermillion", "thin lip", "thin lips", "thin vermilion borders", "thin vermillion" ], "HP:0000234": [ "abnormality of the head", "abnormal head", "head abnormality" ], "HP:0000235": [ "abnormality of the fontanelle or cranial suture", "abnormality of the fontanelles or cranial sutures" ], "HP:0000236": [ "abnormality of the anterior fontanelle", "abnormality of the forehead soft spot" ], "HP:0000237": [ "small anterior fontanelle", "small anterior fontanel", "small forehead fontanel" ], "HP:0000238": [ "hydrocephalus", "hydrocephaly", "nonsyndromal hydrocephalus", "too much cerebrospinal fluid in the brain" ], "HP:0007189": [ "hydrocephalus", "hydrocephaly", "nonsyndromal hydrocephalus", "too much cerebrospinal fluid in the brain" ], "HP:0008503": [ "hydrocephalus", "hydrocephaly", "nonsyndromal hydrocephalus", "too much cerebrospinal fluid in the brain" ], "HP:0000239": [ "large fontanelle", "large fontanelles", "enlarge fontanelle", "enlarged fontanelles", "large bregma suture", "large bregma sutures", "large fontanel", "large fontanels", "large , late - closing fontanelle", "persistent wide fontanel", "wide bregma suture", "wide bregma sutures", "wide fontanelle", "wide fontanelles" ], "HP:0004473": [ "large fontanelle", "large fontanelles", "enlarge fontanelle", "enlarged fontanelles", "large bregma suture", "large bregma sutures", "large fontanel", "large fontanels", "large , late - closing fontanelle", "persistent wide fontanel", "wide bregma suture", "wide bregma sutures", "wide fontanelle", "wide fontanelles" ], "HP:0000240": [ "abnormality of skull size", "abnormality of cranium size", "abnormality of head size" ], "HP:0000242": [ "parietal bossing", "biparietal bossing", "bossing of parietal bone" ], "HP:0004641": [ "parietal bossing", "biparietal bossing", "bossing of parietal bone" ], "HP:0000243": [ "trigonocephaly", "triangular cranium shape", "triangular head shape", "triangular skull shape", "wedge shape cranium", "wedge shaped cranium", "wedge shape head", "wedge shaped head", "wedge shape skull", "wedge shaped skull" ], "HP:0000244": [ "brachyturricephaly", "brachy - turricephaly", "high , prominent forehead", "turribrachycephaly" ], "HP:0000245": [ "abnormal paranasal sinus morphology", "abnormality of the paranasal sinus", "abnormality of the paranasal sinuses", "abnormality of the sinus", "abnormality of the sinuses", "abnormality of the sinus of the head", "abnormality of the sinuses of the head" ], "HP:0000246": [ "sinusitis", "sinus disease", "sinus infection", "sinus inflammation" ], "HP:0000248": [ "brachycephaly", "broad cranium shape", "broad head shape", "broad skull shape", "short and broad skull", "wide cranium shape", "wide head shape", "wide skull shape" ], "HP:0002258": [ "brachycephaly", "broad cranium shape", "broad head shape", "broad skull shape", "short and broad skull", "wide cranium shape", "wide head shape", "wide skull shape" ], "HP:0004479": [ "brachycephaly", "broad cranium shape", "broad head shape", "broad skull shape", "short and broad skull", "wide cranium shape", "wide head shape", "wide skull shape" ], "HP:0008512": [ "brachycephaly", "broad cranium shape", "broad head shape", "broad skull shape", "short and broad skull", "wide cranium shape", "wide head shape", "wide skull shape" ], "HP:0000250": [ "dense calvaria", "dense skull cap" ], "HP:0000252": [ "microcephaly", "abnormally small cranium", "abnormally small head", "abnormally small skull", "decrease circumference of cranium", "decreased circumference of cranium", "decreased size of cranium", "decreased size of head", "decreased size of skull", "reduce head circumference", "reduced head circumference", "small calvarium", "small cranium", "small head", "small head circumference", "small skull" ], "HP:0001366": [ "microcephaly", "abnormally small cranium", "abnormally small head", "abnormally small skull", "decrease circumference of cranium", "decreased circumference of cranium", "decreased size of cranium", "decreased size of head", "decreased size of skull", "reduce head circumference", "reduced head circumference", "small calvarium", "small cranium", "small head", "small head circumference", "small skull" ], "HP:0005485": [ "microcephaly", "abnormally small cranium", "abnormally small head", "abnormally small skull", "decrease circumference of cranium", "decreased circumference of cranium", "decreased size of cranium", "decreased size of head", "decreased size of skull", "reduce head circumference", "reduced head circumference", "small calvarium", "small cranium", "small head", "small head circumference", "small skull" ], "HP:0005489": [ "microcephaly", "abnormally small cranium", "abnormally small head", "abnormally small skull", "decrease circumference of cranium", "decreased circumference of cranium", "decreased size of cranium", "decreased size of head", "decreased size of skull", "reduce head circumference", "reduced head circumference", "small calvarium", "small cranium", "small head", "small head circumference", "small skull" ], "HP:0005497": [ "microcephaly", "abnormally small cranium", "abnormally small head", "abnormally small skull", "decrease circumference of cranium", "decreased circumference of cranium", "decreased size of cranium", "decreased size of head", "decreased size of skull", "reduce head circumference", "reduced head circumference", "small calvarium", "small cranium", "small head", "small head circumference", "small skull" ], "HP:0000253": [ "progressive microcephaly", "microcephaly , postnatal , progressive", "microcephaly , progressive", "progressively abnormally small cranium", "progressively abnormally small skull" ], "HP:0000255": [ "acute sinusitis" ], "HP:0000256": [ "macrocephaly", "big calvaria", "big cranium", "big head", "big skull", "increase size of cranium", "increased size of cranium", "increase size of head", "increased size of head", "increase size of skull", "increased size of skull", "large calvaria", "large cranium", "large head", "large head circumference", "large skull", "macrocrania", "megacephaly", "obsolete macrocephaly due to hydrocephalus" ], "HP:0005491": [ "macrocephaly", "big calvaria", "big cranium", "big head", "big skull", "increase size of cranium", "increased size of cranium", "increase size of head", "increased size of head", "increase size of skull", "increased size of skull", "large calvaria", "large cranium", "large head", "large head circumference", "large skull", "macrocrania", "megacephaly", "obsolete macrocephaly due to hydrocephalus" ], "HP:0005496": [ "macrocephaly", "big calvaria", "big cranium", "big head", "big skull", "increase size of cranium", "increased size of cranium", "increase size of head", "increased size of head", "increase size of skull", "increased size of skull", "large calvaria", "large cranium", "large head", "large head circumference", "large skull", "macrocrania", "megacephaly", "obsolete macrocephaly due to hydrocephalus" ], "HP:0200135": [ "macrocephaly", "big calvaria", "big cranium", "big head", "big skull", "increase size of cranium", "increased size of cranium", "increase size of head", "increased size of head", "increase size of skull", "increased size of skull", "large calvaria", "large cranium", "large head", "large head circumference", "large skull", "macrocrania", "megacephaly", "obsolete macrocephaly due to hydrocephalus" ], "HP:0000260": [ "wide anterior fontanel", "large anterior fontanel", "large anterior fontanelle", "large anterior fontanels", "large open anterior fontanel", "large open anterior fontanelle", "wide anterior fontanelle", "wide open anterior fontanelle", "wide - than - typical soft spot of skull", "wider - than - typical soft spot of skull" ], "HP:0000262": [ "turricephaly", "tall shape cranium", "tall shaped cranium", "tall shape head", "tall shaped head", "tall shape skull", "tall shaped skull", "tower cranium shape", "tower skull shape", "turricephalus" ], "HP:0001356": [ "turricephaly", "tall shape cranium", "tall shaped cranium", "tall shape head", "tall shaped head", "tall shape skull", "tall shaped skull", "tower cranium shape", "tower skull shape", "turricephalus" ], "HP:0000263": [ "oxycephaly", "acrocephaly" ], "HP:0000264": [ "abnormality of the mastoid", "abnormality of mastoid process of temporal bone" ], "HP:0000265": [ "mastoiditis" ], "HP:0000267": [ "cranial asymmetry", "abnormality of cranial vault shape", "abnormality of cranium shape", "abnormality of head shape", "asymmetry of cranium", "asymmetry of head", "cranial vault asymmetry", "malformation of cranial vault shape", "malformation of cranium shape", "malformation of head shape", "uneven head shape" ], "HP:0000268": [ "dolichocephaly", "large dolichocephalic skull", "long , narrow head", "narrow cranium shape", "narrow head shape", "narrow skull shape", "tall and narrow skull", "turridolichocephaly" ], "HP:0000258": [ "dolichocephaly", "large dolichocephalic skull", "long , narrow head", "narrow cranium shape", "narrow head shape", "narrow skull shape", "tall and narrow skull", "turridolichocephaly" ], "HP:0005440": [ "dolichocephaly", "large dolichocephalic skull", "long , narrow head", "narrow cranium shape", "narrow head shape", "narrow skull shape", "tall and narrow skull", "turridolichocephaly" ], "HP:0000269": [ "prominent occiput", "prominent back of the head", "prominent back of the skull", "prominent posterior cranium", "prominent posterior head", "prominent posterior skull", "protrude back of the head", "protruding back of the head", "protrude occiput", "protruding occiput" ], "HP:0004489": [ "prominent occiput", "prominent back of the head", "prominent back of the skull", "prominent posterior cranium", "prominent posterior head", "prominent posterior skull", "protrude back of the head", "protruding back of the head", "protrude occiput", "protruding occiput" ], "HP:0000270": [ "delay cranial suture closure", "delayed cranial suture closure", "broad late close cranial suture", "broad late closing cranial sutures", "delayed closure of fontanel", "delayed closure of fontanelle", "delayed closure of fontanelles", "delayed closure of fontanels", "delayed closure of the fontanelle", "delayed closure of the fontanelles", "delay fontanel closure", "delayed fontanel closure", "delay fontanelle closure", "delayed fontanelle closure", "late closing fontanelle", "late closing fontanelles", "late closure of fontanelle", "late - closing fontanelle", "open suture", "open sutures" ], "HP:0002704": [ "delay cranial suture closure", "delayed cranial suture closure", "broad late close cranial suture", "broad late closing cranial sutures", "delayed closure of fontanel", "delayed closure of fontanelle", "delayed closure of fontanelles", "delayed closure of fontanels", "delayed closure of the fontanelle", "delayed closure of the fontanelles", "delay fontanel closure", "delayed fontanel closure", "delay fontanelle closure", "delayed fontanelle closure", "late closing fontanelle", "late closing fontanelles", "late closure of fontanelle", "late - closing fontanelle", "open suture", "open sutures" ], "HP:0003794": [ "delay cranial suture closure", "delayed cranial suture closure", "broad late close cranial suture", "broad late closing cranial sutures", "delayed closure of fontanel", "delayed closure of fontanelle", "delayed closure of fontanelles", "delayed closure of fontanels", "delayed closure of the fontanelle", "delayed closure of the fontanelles", "delay fontanel closure", "delayed fontanel closure", "delay fontanelle closure", "delayed fontanelle closure", "late closing fontanelle", "late closing fontanelles", "late closure of fontanelle", "late - closing fontanelle", "open suture", "open sutures" ], "HP:0000271": [ "abnormality of the face", "abnormal face", "abnormality of the countenance", "abnormality of the physiognomy", "abnormality of the visage", "anomaly of face", "anomaly of the face", "disorder of face", "disorder of the face", "facial abnormality", "facial anomaly" ], "HP:0000272": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0000312": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0000332": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0004642": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0004658": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0004671": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0005319": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0005443": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0005455": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0100846": [ "malar flattening", "decreased size of malar bone", "depressed malar region", "flat cheekbone", "hypotrophic malar bone", "malar hypoplasia", "underdevelopment of malar bone", "zygomatic flattening" ], "HP:0000273": [ "facial grimacing" ], "HP:0000274": [ "small face", "facial hypoplasia", "hypoplasia of face", "microface", "microfacies", "short and narrow face", "small facies" ], "HP:0000275": [ "narrow face", "decrease breadth of face", "decreased breadth of face", "decrease horizontal dimension of face", "decreased horizontal dimension of face", "decreased transverse dimension of face", "decrease width of face", "decreased width of face", "horizontal deficiency of face", "horizontal hypoplasia of face", "horizontal insufficiency of face", "narrow facies", "thin face", "thin facies", "transverse deficiency of face", "transverse hypoplasia of face", "transverse insufficiency of face" ], "HP:0000318": [ "narrow face", "decrease breadth of face", "decreased breadth of face", "decrease horizontal dimension of face", "decreased horizontal dimension of face", "decreased transverse dimension of face", "decrease width of face", "decreased width of face", "horizontal deficiency of face", "horizontal hypoplasia of face", "horizontal insufficiency of face", "narrow facies", "thin face", "thin facies", "transverse deficiency of face", "transverse hypoplasia of face", "transverse insufficiency of face" ], "HP:0000276": [ "long face", "elongation of face", "increase height of face", "increased height of face", "increased length of face", "increased vertical dimension of face", "long facies", "vertical elongation of face", "vertical enlargement of face", "vertical excess of face", "vertical facial excess", "vertical hyperplasia of face", "vertical overgrowth of face" ], "HP:0000334": [ "long face", "elongation of face", "increase height of face", "increased height of face", "increased length of face", "increased vertical dimension of face", "long facies", "vertical elongation of face", "vertical enlargement of face", "vertical excess of face", "vertical facial excess", "vertical hyperplasia of face", "vertical overgrowth of face" ], "HP:0000277": [ "abnormality of the mandible", "abnormality of the low jaw bone", "abnormality of the lower jaw bone", "anomaly of the mandible", "deformity of the low jaw bone", "deformity of the lower jaw bone", "deformity of the mandible", "malformation of the low jaw bone", "malformation of the lower jaw bone", "malformation of the mandible" ], "HP:0000209": [ "abnormality of the mandible", "abnormality of the low jaw bone", "abnormality of the lower jaw bone", "anomaly of the mandible", "deformity of the low jaw bone", "deformity of the lower jaw bone", "deformity of the mandible", "malformation of the low jaw bone", "malformation of the lower jaw bone", "malformation of the mandible" ], "HP:0000278": [ "retrognathia", "low jaw retrognathia", "lower jaw retrognathia", "recede chin", "receding chin", "recede low jaw", "receding lower jaw", "recede mandible", "receding mandible", "retrogenia", "retrognathia of low jaw", "retrognathia of lower jaw", "weak chin", "weak jaw" ], "HP:0002053": [ "retrognathia", "low jaw retrognathia", "lower jaw retrognathia", "recede chin", "receding chin", "recede low jaw", "receding lower jaw", "recede mandible", "receding mandible", "retrogenia", "retrognathia of low jaw", "retrognathia of lower jaw", "weak chin", "weak jaw" ], "HP:0002954": [ "retrognathia", "low jaw retrognathia", "lower jaw retrognathia", "recede chin", "receding chin", "recede low jaw", "receding lower jaw", "recede mandible", "receding mandible", "retrogenia", "retrognathia of low jaw", "retrognathia of lower jaw", "weak chin", "weak jaw" ], "HP:0000280": [ "coarse facial feature", "coarse facial features", "coarse face", "coarse facial appearance", "coarse facies", "round and heavy facial feature", "rounded and heavy facial features", "thicken facial skin with coarse facial feature", "thickened facial skin with coarse facial features" ], "HP:0000281": [ "coarse facial feature", "coarse facial features", "coarse face", "coarse facial appearance", "coarse facies", "round and heavy facial feature", "rounded and heavy facial features", "thicken facial skin with coarse facial feature", "thickened facial skin with coarse facial features" ], "HP:0004640": [ "coarse facial feature", "coarse facial features", "coarse face", "coarse facial appearance", "coarse facies", "round and heavy facial feature", "rounded and heavy facial features", "thicken facial skin with coarse facial feature", "thickened facial skin with coarse facial features" ], "HP:0000282": [ "facial edema", "facial oedema", "facial puffiness", "facial swelling" ], "HP:0000283": [ "broad face", "broad facies", "horizontal excess of face", "horizontal hyperplasia of face", "increase breadth of face", "increased breadth of face", "increase horizontal dimension of face", "increased horizontal dimension of face", "increased transverse dimension of face", "increase width of face", "increased width of face", "transverse excess of face", "transverse hyperplasia of face", "wide face", "wide facies" ], "HP:0000284": [ "obsolete abnormality of the ocular region", "abnormality of the orbital region", "abnormality of the eye region", "abnormality of the region around the eye", "abnormality of the region around the eyes", "anomaly of the orbital region of the face", "deformity of the orbital region of the face", "malformation of the orbital region of the face" ], "HP:0000286": [ "epicanthus", "epicanthal fold", "epicanthal folds", "epicanthic fold", "epicanthic folds", "eye fold", "eye folds", "palpebronasal fold", "plica palpebronasalis", "prominent eye fold", "prominent eye folds", "obsolete prominent epicanthal fold", "obsolete prominent epicanthal folds" ], "HP:0000624": [ "epicanthus", "epicanthal fold", "epicanthal folds", "epicanthic fold", "epicanthic folds", "eye fold", "eye folds", "palpebronasal fold", "plica palpebronasalis", "prominent eye fold", "prominent eye folds", "obsolete prominent epicanthal fold", "obsolete prominent epicanthal folds" ], "HP:0007930": [ "epicanthus", "epicanthal fold", "epicanthal folds", "epicanthic fold", "epicanthic folds", "eye fold", "eye folds", "palpebronasal fold", "plica palpebronasalis", "prominent eye fold", "prominent eye folds", "obsolete prominent epicanthal fold", "obsolete prominent epicanthal folds" ], "HP:0000287": [ "increase facial adipose tissue", "increased facial adipose tissue", "facial fat hyperplasia", "facial fat hypertrophy", "hyperplasia of facial adipose tissue", "hypertrophy of facial adipose tissue", "increased amount of facial adipose tissue", "increased amount of facial fat", "increased volume of facial adipose tissue" ], "HP:0000288": [ "abnormality of the philtrum", "abnormal philtrum", "abnormality of the infranasal depression", "abnormality of the paralabial region" ], "HP:0011216": [ "abnormality of the philtrum", "abnormal philtrum", "abnormality of the infranasal depression", "abnormality of the paralabial region" ], "HP:0000289": [ "broad philtrum", "increase breadth of philtrum", "increased breadth of philtrum", "increase horizontal dimension of philtrum", "increased horizontal dimension of philtrum", "increased transverse dimension of philtrum", "increase width of philtrum", "increased width of philtrum", "wide philtrum" ], "HP:0000290": [ "abnormality of the forehead", "abnormality of the frontal region of the face", "anomaly of the forehead", "deformity of the forehead", "malformation of the forehead" ], "HP:0000291": [ "abnormality of facial adipose tissue", "abnormality of facial fat", "deformity of facial adipose tissue", "malformation of facial adipose tissue" ], "HP:0000292": [ "loss of facial adipose tissue", "decreased amount of facial adipose tissue", "decreased amount of facial fat", "decreased volume of facial adipose tissue", "loss of facial fat", "loss of facial subcutaneous adipose tissue", "loss of subcutaneous adipose tissue from face" ], "HP:0000293": [ "full cheek", "full cheeks", "apple cheek", "apple cheeks", "big cheek", "big cheeks", "chubby cheek", "chubby cheeks", "hyperplasia of cheek", "hyperplasia of cheeks", "hypertrophy of cheek", "hypertrophy of cheeks", "increase size of cheek", "increased size of cheeks", "large cheek", "large cheeks", "puffy cheek", "puffy cheeks" ], "HP:0002262": [ "full cheek", "full cheeks", "apple cheek", "apple cheeks", "big cheek", "big cheeks", "chubby cheek", "chubby cheeks", "hyperplasia of cheek", "hyperplasia of cheeks", "hypertrophy of cheek", "hypertrophy of cheeks", "increase size of cheek", "increased size of cheeks", "large cheek", "large cheeks", "puffy cheek", "puffy cheeks" ], "HP:0004427": [ "full cheek", "full cheeks", "apple cheek", "apple cheeks", "big cheek", "big cheeks", "chubby cheek", "chubby cheeks", "hyperplasia of cheek", "hyperplasia of cheeks", "hypertrophy of cheek", "hypertrophy of cheeks", "increase size of cheek", "increased size of cheeks", "large cheek", "large cheeks", "puffy cheek", "puffy cheeks" ], "HP:0000294": [ "low anterior hairline", "low frontal hairline", "low - set frontal hairline" ], "HP:0000295": [ "doll - like facies", "doll - like facial appearance" ], "HP:0000297": [ "facial hypotonia", "atony of facial musculature", "decrease facial muscle tone", "decreased facial muscle tone", "hypotonic facies", "low facial muscle tone", "reduce facial muscle tone", "reduced facial muscle tone" ], "HP:0000298": [ "mask - like facies", "amimia", "expressionless face", "lack of facial expression", "mask - like facial appearance", "masklike facies" ], "HP:0000300": [ "oval face", "oval facial shape", "oval facies" ], "HP:0000301": [ "abnormality of facial musculature", "abnormality of facial muscle", "abnormality of facial muscles", "facial muscle issue" ], "HP:0000303": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0000251": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0000279": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0000328": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0002051": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0004648": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0004656": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0008514": [ "mandibular prognathia", "big low jaw", "big lower jaw", "big mandible", "enlarge mandible", "enlarged mandible", "enlargement of mandible", "hyperplasia of low jaw", "hyperplasia of lower jaw", "hypertrophy of low jaw", "hypertrophy of lower jaw", "hypertrophy of mandible", "increase projection of low jaw", "increased projection of lower jaw", "increase projection of mandible", "increased projection of mandible", "increase size of low jaw", "increased size of lower jaw", "increase size of mandible", "increased size of mandible", "large low jaw", "large lower jaw", "large mandible", "low jaw excess", "lower jaw excess", "low jaw hyperplasia", "lower jaw hyperplasia", "macromandible", "mandible prognathism", "mandibular excess", "mandibular hyperplasia", "mandibular macrognathia", "mandibular prognathism", "prognathia", "prognathism", "prominent chin", "prominent jaw", "prominent low jaw", "prominent lower jaw", "prominent mandible", "relative mandibular prognathism" ], "HP:0000306": [ "abnormality of the chin", "abnormality of the menton", "anomaly of the chin", "deformity of the chin", "malformation of the chin" ], "HP:0000307": [ "point chin", "pointed chin", "point mention region", "pointed mention region", "pointy chin", "small point chin", "small pointed chin", "witch 's chin" ], "HP:0005330": [ "point chin", "pointed chin", "point mention region", "pointed mention region", "pointy chin", "small point chin", "small pointed chin", "witch 's chin" ], "HP:0000308": [ "microretrognathia", "retromicrognathia", "small retruded chin" ], "HP:0000309": [ "abnormality of the midface", "anomaly of the midface", "deformity of the midface", "malformation of the midface" ], "HP:0000311": [ "round face", "circular face", "round facial appearance", "round facial shape", "round facies", "round , full face" ], "HP:0000304": [ "round face", "circular face", "round facial appearance", "round facial shape", "round facies", "round , full face" ], "HP:0004653": [ "round face", "circular face", "round facial appearance", "round facial shape", "round facies", "round , full face" ], "HP:0000315": [ "obsolete abnormality of the ocular region", "abnormality of the orbital region", "abnormality of the eye region", "abnormality of the region around the eye", "abnormality of the region around the eyes", "anomaly of the orbital region of the face", "deformity of the orbital region of the face", "malformation of the orbital region of the face" ], "HP:0000316": [ "hypertelorism", "excessive orbital separation", "increase distance between eye socket", "increased distance between eye sockets", "increase distance between eye", "increased distance between eyes", "increase interpupillary distance", "increased interpupillary distance", "ocular hypertelorism", "wide - set eye", "wide - set eyes", "widely space eye", "widely spaced eyes", "widen interpupillary distance", "widened interpupillary distance" ], "HP:0000578": [ "hypertelorism", "excessive orbital separation", "increase distance between eye socket", "increased distance between eye sockets", "increase distance between eye", "increased distance between eyes", "increase interpupillary distance", "increased interpupillary distance", "ocular hypertelorism", "wide - set eye", "wide - set eyes", "widely space eye", "widely spaced eyes", "widen interpupillary distance", "widened interpupillary distance" ], "HP:0002001": [ "hypertelorism", "excessive orbital separation", "increase distance between eye socket", "increased distance between eye sockets", "increase distance between eye", "increased distance between eyes", "increase interpupillary distance", "increased interpupillary distance", "ocular hypertelorism", "wide - set eye", "wide - set eyes", "widely space eye", "widely spaced eyes", "widen interpupillary distance", "widened interpupillary distance" ], "HP:0004657": [ "hypertelorism", "excessive orbital separation", "increase distance between eye socket", "increased distance between eye sockets", "increase distance between eye", "increased distance between eyes", "increase interpupillary distance", "increased interpupillary distance", "ocular hypertelorism", "wide - set eye", "wide - set eyes", "widely space eye", "widely spaced eyes", "widen interpupillary distance", "widened interpupillary distance" ], "HP:0007871": [ "hypertelorism", "excessive orbital separation", "increase distance between eye socket", "increased distance between eye sockets", "increase distance between eye", "increased distance between eyes", "increase interpupillary distance", "increased interpupillary distance", "ocular hypertelorism", "wide - set eye", "wide - set eyes", "widely space eye", "widely spaced eyes", "widen interpupillary distance", "widened interpupillary distance" ], "HP:0000317": [ "facial myokymia", "involuntary facial contraction", "involuntary facial quivering" ], "HP:0004651": [ "facial myokymia", "involuntary facial contraction", "involuntary facial quivering" ], "HP:0000319": [ "smooth philtrum", "decrease depth of philtrum", "decreased depth of philtrum", "flat philtrum", "indistinct philtrum", "philtrum , smooth", "shallow philtrum", "simple philtrum" ], "HP:0000299": [ "smooth philtrum", "decrease depth of philtrum", "decreased depth of philtrum", "flat philtrum", "indistinct philtrum", "philtrum , smooth", "shallow philtrum", "simple philtrum" ], "HP:0000323": [ "smooth philtrum", "decrease depth of philtrum", "decreased depth of philtrum", "flat philtrum", "indistinct philtrum", "philtrum , smooth", "shallow philtrum", "simple philtrum" ], "HP:0004663": [ "smooth philtrum", "decrease depth of philtrum", "decreased depth of philtrum", "flat philtrum", "indistinct philtrum", "philtrum , smooth", "shallow philtrum", "simple philtrum" ], "HP:0000320": [ "bird - like facies", "bird - like facial appearance" ], "HP:0000321": [ "square face", "square facial shape", "square facies" ], "HP:0000322": [ "short philtrum", "decreased height of philtrum", "decreased length of philtrum", "decreased vertical dimension of philtrum", "vertical hypoplasia of philtrum" ], "HP:0200090": [ "short philtrum", "decreased height of philtrum", "decreased length of philtrum", "decreased vertical dimension of philtrum", "vertical hypoplasia of philtrum" ], "HP:0000324": [ "facial asymmetry", "asymmetric facies", "asymmetry of face", "asymmetry of right and leave side of face", "asymmetry of right and left side of face", "crooked face", "unbalanced face", "unequal side of face", "unequal sides of face", "uneven face", "uneven side of face", "uneven sides of face", "unsymmetrical face" ], "HP:0003775": [ "facial asymmetry", "asymmetric facies", "asymmetry of face", "asymmetry of right and leave side of face", "asymmetry of right and left side of face", "crooked face", "unbalanced face", "unequal side of face", "unequal sides of face", "uneven face", "uneven side of face", "uneven sides of face", "unsymmetrical face" ], "HP:0000325": [ "triangular face", "face with broad temple and narrow chin", "face with broad temples and narrow chin", "triangular facial shape", "triangular facies" ], "HP:0004645": [ "triangular face", "face with broad temple and narrow chin", "face with broad temples and narrow chin", "triangular facial shape", "triangular facies" ], "HP:0004662": [ "triangular face", "face with broad temple and narrow chin", "face with broad temples and narrow chin", "triangular facial shape", "triangular facies" ], "HP:0004668": [ "triangular face", "face with broad temple and narrow chin", "face with broad temples and narrow chin", "triangular facial shape", "triangular facies" ], "HP:0000326": [ "abnormality of the maxilla", "abnormality of the upper jaw bone", "abnormality of the upper jaw bones", "anomaly of the maxilla", "deformity of the maxilla", "deformity of the upper jaw bone", "deformity of the upper jaw bones", "malformation of the maxilla", "malformation of the upper jaw bone", "malformation of the upper jaw bones" ], "HP:0000327": [ "hypoplasia of the maxilla", "decreased projection of maxilla", "decreased projection of upper jaw", "decreased size of maxilla", "decreased size of upper jaw", "deficiency of upper jaw bone", "deficiency of upper jaw bones", "hypoplasia of upper jaw bone", "hypoplasia of upper jaw bones", "hypoplastic maxillary bone", "hypoplastic maxillary bones", "hypotrophic maxilla", "hypotrophic upper jaw bone", "hypotrophic upper jaw bones", "maxillary deficiency", "maxillary hypoplasia", "maxillary micrognathia", "maxillary retrognathia", "maxillary retrusion", "micromaxilla", "retrognathia of upper jaw", "retrusion of upper jaw bone", "retrusion of upper jaw bones", "small maxilla", "small upper jaw", "small upper jaw bone", "small upper jaw bones", "upper jaw deficiency", "upper jaw retrusion" ], "HP:0004644": [ "hypoplasia of the maxilla", "decreased projection of maxilla", "decreased projection of upper jaw", "decreased size of maxilla", "decreased size of upper jaw", "deficiency of upper jaw bone", "deficiency of upper jaw bones", "hypoplasia of upper jaw bone", "hypoplasia of upper jaw bones", "hypoplastic maxillary bone", "hypoplastic maxillary bones", "hypotrophic maxilla", "hypotrophic upper jaw bone", "hypotrophic upper jaw bones", "maxillary deficiency", "maxillary hypoplasia", "maxillary micrognathia", "maxillary retrognathia", "maxillary retrusion", "micromaxilla", "retrognathia of upper jaw", "retrusion of upper jaw bone", "retrusion of upper jaw bones", "small maxilla", "small upper jaw", "small upper jaw bone", "small upper jaw bones", "upper jaw deficiency", "upper jaw retrusion" ], "HP:0000329": [ "facial hemangioma", "facial hemangiomata" ], "HP:0000331": [ "short chin", "decreased height of chin", "short low third of face", "short lower third of face", "small chin", "vertical deficiency of chin", "vertical hypoplasia of chin" ], "HP:0000336": [ "prominent supraorbital ridge", "prominent supraorbital ridges", "hyperplasia of supraorbital margin", "hyperplasia of supraorbital margins", "hyperplasia of supraorbital ridge", "hypertrophy of supraorbital margin", "hypertrophy of supraorbital margins", "hypertrophy of supraorbital ridge", "prominent brow", "prominent supraorbital margin", "prominent supraorbital margins", "protrude supraorbital ridge", "protruding supraorbital ridge", "supraorbital hyperostosis" ], "HP:0000337": [ "broad forehead", "bitemporal widening", "increase bitemporal dimension", "increased bitemporal dimension", "increase bitemporal width", "increased bitemporal width", "increase width of the forehead", "increased width of the forehead", "intertemporal widening", "wide forehead" ], "HP:0000352": [ "broad forehead", "bitemporal widening", "increase bitemporal dimension", "increased bitemporal dimension", "increase bitemporal width", "increased bitemporal width", "increase width of the forehead", "increased width of the forehead", "intertemporal widening", "wide forehead" ], "HP:0000354": [ "broad forehead", "bitemporal widening", "increase bitemporal dimension", "increased bitemporal dimension", "increase bitemporal width", "increased bitemporal width", "increase width of the forehead", "increased width of the forehead", "intertemporal widening", "wide forehead" ], "HP:0000338": [ "hypomimic face", "decrease facial expression", "decreased facial expressions", "decrease facial muscle movement", "decreased facial muscle movement", "dull facial expression", "hypomimia" ], "HP:0008769": [ "hypomimic face", "decrease facial expression", "decreased facial expressions", "decrease facial muscle movement", "decreased facial muscle movement", "dull facial expression", "hypomimia" ], "HP:0000339": [ "pugilistic facies", "boxer - like facial appearance", "pugilistic facial appearance" ], "HP:0000340": [ "slop forehead", "sloping forehead", "incline forehead", "inclined forehead", "posteriorly slop forehead", "posteriorly sloping forehead", "recede forehead", "receding forehead" ], "HP:0000351": [ "slop forehead", "sloping forehead", "incline forehead", "inclined forehead", "posteriorly slop forehead", "posteriorly sloping forehead", "recede forehead", "receding forehead" ], "HP:0004480": [ "slop forehead", "sloping forehead", "incline forehead", "inclined forehead", "posteriorly slop forehead", "posteriorly sloping forehead", "recede forehead", "receding forehead" ], "HP:0008493": [ "slop forehead", "sloping forehead", "incline forehead", "inclined forehead", "posteriorly slop forehead", "posteriorly sloping forehead", "recede forehead", "receding forehead" ], "HP:0008500": [ "slop forehead", "sloping forehead", "incline forehead", "inclined forehead", "posteriorly slop forehead", "posteriorly sloping forehead", "recede forehead", "receding forehead" ], "HP:0000341": [ "narrow forehead", "bitemporal narrowing", "bitemporal narrowness", "bitemporal skull narrowing", "decrease width of the forehead", "decreased width of the forehead", "intertemporal narrowing", "narrow bitemporal diameter", "narrow bitemporal width", "temporal narrowness" ], "HP:0000314": [ "narrow forehead", "bitemporal narrowing", "bitemporal narrowness", "bitemporal skull narrowing", "decrease width of the forehead", "decreased width of the forehead", "intertemporal narrowing", "narrow bitemporal diameter", "narrow bitemporal width", "temporal narrowness" ], "HP:0004674": [ "narrow forehead", "bitemporal narrowing", "bitemporal narrowness", "bitemporal skull narrowing", "decrease width of the forehead", "decreased width of the forehead", "intertemporal narrowing", "narrow bitemporal diameter", "narrow bitemporal width", "temporal narrowness" ], "HP:0004677": [ "narrow forehead", "bitemporal narrowing", "bitemporal narrowness", "bitemporal skull narrowing", "decrease width of the forehead", "decreased width of the forehead", "intertemporal narrowing", "narrow bitemporal diameter", "narrow bitemporal width", "temporal narrowness" ], "HP:0000343": [ "long philtrum", "elongate philtrum", "elongated philtrum", "increase height of philtrum", "increased height of philtrum", "increased length of philtrum", "increased vertical dimension of philtrum", "vertical hyperplasia of philtrum" ], "HP:0000346": [ "whistle appearance", "whistling appearance", "whistle facial appearance", "whistling facial appearance" ], "HP:0000347": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0000210": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0000330": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0000345": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0002005": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0002674": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0004669": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0005460": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0005470": [ "micrognathia", "decreased projection of low jaw", "decreased projection of lower jaw", "decreased projection of mandible", "decreased size of low jaw", "decreased size of lower jaw", "decreased size of mandible", "deficiency of low jaw", "deficiency of lower jaw", "hypoplasia of low jaw", "hypoplasia of lower jaw", "hypoplasia of mandible", "hypoplastic mandible", "hypoplastic mandible condyle", "hypotrophic low jaw", "hypotrophic lower jaw", "hypotrophic mandible", "little low jaw", "little lower jaw", "little mandible", "low jaw deficiency", "lower jaw deficiency", "low jaw hypoplasia", "lower jaw hypoplasia", "low jaw retrusion", "lower jaw retrusion", "mandibular deficiency", "mandibular hypoplasia", "mandibular micrognathia", "mandibular retrognathia", "mandibular retrusion", "micrognathia of low jaw", "micrognathia of lower jaw", "micromandible", "retrusion of low jaw", "retrusion of lower jaw", "robin mandible", "severe hypoplasia of mandible", "small jaw", "small low jaw", "small lower jaw", "small mandible", "underdevelopment of low jaw", "underdevelopment of lower jaw", "underdevelopment of mandible" ], "HP:0000348": [ "high forehead", "tall forehead" ], "HP:0000342": [ "high forehead", "tall forehead" ], "HP:0000349": [ "widow 's peak", "hairline peak", "hairline point", "point frontal hairline", "pointed frontal hairline", "point hairline at front of head", "pointed hairline at front of head", "v - shaped frontal hairline", "obsolete point frontal hairline", "obsolete pointed frontal hairline" ], "HP:0004544": [ "widow 's peak", "hairline peak", "hairline point", "point frontal hairline", "pointed frontal hairline", "point hairline at front of head", "pointed hairline at front of head", "v - shaped frontal hairline", "obsolete point frontal hairline", "obsolete pointed frontal hairline" ], "HP:0000350": [ "small forehead", "decreased size of forehead", "decreased size of frontal region of face", "hypoplasia of forehead", "hypotrophic forehead" ], "HP:0000356": [ "abnormality of the outer ear", "abnormal pinna", "abnormal pinnae", "abnormality of the auricle", "abnormality of the external ear", "ear anomaly", "ear anomalies", "external ear malformation", "external ear malformations", "malformed pinna", "malformed pinnae", "outer ear abnormality" ], "HP:0001752": [ "abnormality of the outer ear", "abnormal pinna", "abnormal pinnae", "abnormality of the auricle", "abnormality of the external ear", "ear anomaly", "ear anomalies", "external ear malformation", "external ear malformations", "malformed pinna", "malformed pinnae", "outer ear abnormality" ], "HP:0000357": [ "abnormal location of ear", "abnormal location of ears", "external ear position defect" ], "HP:0000358": [ "posteriorly rotate ear", "posteriorly rotated ears", "ear , posterior angulation , increase", "ear , posterior angulation , increased", "ear rotate toward back of head", "ears rotated toward back of head", "posteriorly angulate ear", "posteriorly angulated ears", "posteriorly rotate", "posteriorly rotated", "posteriorly rotate auricle", "posteriorly rotated auricles", "posteriorly - angulated ear", "posteriorly - angulated ears", "posteriorly - rotate ear", "posteriorly - rotated ears" ], "HP:0008535": [ "posteriorly rotate ear", "posteriorly rotated ears", "ear , posterior angulation , increase", "ear , posterior angulation , increased", "ear rotate toward back of head", "ears rotated toward back of head", "posteriorly angulate ear", "posteriorly angulated ears", "posteriorly rotate", "posteriorly rotated", "posteriorly rotate auricle", "posteriorly rotated auricles", "posteriorly - angulated ear", "posteriorly - angulated ears", "posteriorly - rotate ear", "posteriorly - rotated ears" ], "HP:0000359": [ "abnormality of the inner ear", "inner ear abnormality" ], "HP:0000360": [ "tinnitus", "ring in ear", "ringing in ears", "ring in the ear", "ringing in the ears" ], "HP:0000361": [ "obsolete pulsatile tinnitus ( tympanic paraganglioma )", "pulsatile tinnitus" ], "HP:0000362": [ "otosclerosis" ], "HP:0000363": [ "abnormality of earlobe", "abnormal earlobe", "abnormal lobe of ear", "abnormality of auricular lobule", "abnormality of ear lobe", "abnormality of lobulus auricula", "abnormality of lobulus auriculae" ], "HP:0000364": [ "hearing abnormality", "abnormal hearing" ], "HP:0000365": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0000404": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0001728": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0001729": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0001754": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0008560": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0008563": [ "hearing impairment", "deafness", "hearing defect", "hearing loss", "hypacusis", "hypoacusis" ], "HP:0000366": [ "abnormality of the nose", "anomaly of the nose", "deformity of the nose", "malformation of the nose", "nasal abnormality", "nasal anomaly", "nasal deformity", "nasal malformation" ], "HP:0000368": [ "low - set , posteriorly rotate ear", "low - set , posteriorly rotated ears", "low - set posteriorly rotated ear", "low - set posteriorly rotated ears" ], "HP:0000369": [ "low - set ear", "low - set ears", "low set ear", "low set ears", "low - set pinna", "low - set pinnae", "lowset ear", "lowset ears", "melotia" ], "HP:0000370": [ "abnormality of the middle ear", "middle ear abnormality", "middle ear abnormalities" ], "HP:0000371": [ "acute otitis medium", "acute otitis media", "acute middle ear infection" ], "HP:0000372": [ "abnormality of the auditory canal", "auditory canal abnormality" ], "HP:0000375": [ "abnormal cochlea morphology", "abnormality of cochlea" ], "HP:0000376": [ "incomplete partition of the cochlea type ii", "mondini malformation" ], "HP:0000377": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0000390": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0000398": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0004465": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008562": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008566": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008567": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008580": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008582": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0008602": [ "abnormality of the pinna", "abnormal form of ear", "abnormal form of ears", "abnormally shaped ear", "abnormally shaped ears", "auricular malformation", "deform auricle", "deformed auricles", "deform ear", "deformed ears", "dysplastic ear", "dysplastic ears", "malformation of auricle", "malformed auricle", "malformed auricles", "malformed ear", "malformed ears", "malformed external ear", "malformed external ears", "minor malformation of the auricle", "minor malformation of the auricles", "poorly define concha", "poorly defined conchae" ], "HP:0000378": [ "cup ear", "cupped ear", "capuchin ear", "capuchin ears", "cup - shaped ear", "cup - shaped ears", "cupped ears", "simple , cup - shaped ear", "simple , cup - shaped ears" ], "HP:0008531": [ "cup ear", "cupped ear", "capuchin ear", "capuchin ears", "cup - shaped ear", "cup - shaped ears", "cupped ears", "simple , cup - shaped ear", "simple , cup - shaped ears" ], "HP:0008600": [ "cup ear", "cupped ear", "capuchin ear", "capuchin ears", "cup - shaped ear", "cup - shaped ears", "cupped ears", "simple , cup - shaped ear", "simple , cup - shaped ears" ], "HP:0000381": [ "stapes ankylosis", "stapes fixation" ], "HP:0000383": [ "abnormality of periauricular region", "abnormality of the region around the ear", "anomaly of the periauricular region", "deformity of the periauricular region", "malformation of the periauricular region" ], "HP:0000384": [ "preauricular skin tag", "ear tag", "periauricular skin tag", "preauricular acrochordon", "preauricular fibroepithelial polyp", "preauricular skin tags", "preauricular tag", "preauricular tags", "skin tag in front of the ear", "skin tag on the posterior cheek" ], "HP:0008575": [ "preauricular skin tag", "ear tag", "periauricular skin tag", "preauricular acrochordon", "preauricular fibroepithelial polyp", "preauricular skin tags", "preauricular tag", "preauricular tags", "skin tag in front of the ear", "skin tag on the posterior cheek" ], "HP:0100278": [ "preauricular skin tag", "ear tag", "periauricular skin tag", "preauricular acrochordon", "preauricular fibroepithelial polyp", "preauricular skin tags", "preauricular tag", "preauricular tags", "skin tag in front of the ear", "skin tag on the posterior cheek" ], "HP:0000385": [ "small earlobe", "hypoplastic earlobe", "hypoplastic earlobes", "hypoplastic lobule", "hypoplastic lobules", "small earlobes" ], "HP:0008616": [ "small earlobe", "hypoplastic earlobe", "hypoplastic earlobes", "hypoplastic lobule", "hypoplastic lobules", "small earlobes" ], "HP:0000387": [ "absent earlobe", "absent ear lobe", "absent ear lobes", "earlobe , absent", "lobeless ear", "lobeless ears" ], "HP:0000388": [ "otitis medium", "otitis media", "middle ear infection" ], "HP:0000389": [ "chronic otitis medium", "chronic otitis media", "chronic ear infection", "chronic infection of the middle ear", "chronic infections of the middle ear", "chronic middle ear infection", "otitis medium , chronic", "otitis media , chronic" ], "HP:0008524": [ "chronic otitis medium", "chronic otitis media", "chronic ear infection", "chronic infection of the middle ear", "chronic infections of the middle ear", "chronic middle ear infection", "otitis medium , chronic", "otitis media , chronic" ], "HP:0000391": [ "thicken helix", "thickened helices", "thick helix" ], "HP:0000394": [ "lop ear" ], "HP:0000395": [ "prominent antihelix" ], "HP:0000396": [ "overfolded helix", "over - folded helix", "over - folded helices", "overfolded ear", "overfolded ears", "overfolded helices" ], "HP:0001758": [ "overfolded helix", "over - folded helix", "over - folded helices", "overfolded ear", "overfolded ears", "overfolded helices" ], "HP:0008570": [ "overfolded helix", "over - folded helix", "over - folded helices", "overfolded ear", "overfolded ears", "overfolded helices" ], "HP:0000399": [ "prelingual sensorineural hearing impairment", "deafness , sensorineural , prelingual", "prelingual sensorineural deafness" ], "HP:0001731": [ "prelingual sensorineural hearing impairment", "deafness , sensorineural , prelingual", "prelingual sensorineural deafness" ], "HP:0000400": [ "macrotia", "large ear", "large ears", "large pinna", "large pinnae" ], "HP:0000382": [ "macrotia", "large ear", "large ears", "large pinna", "large pinnae" ], "HP:0000386": [ "macrotia", "large ear", "large ears", "large pinna", "large pinnae" ], "HP:0000401": [ "macrotia", "large ear", "large ears", "large pinna", "large pinnae" ], "HP:0001755": [ "macrotia", "large ear", "large ears", "large pinna", "large pinnae" ], "HP:0000402": [ "stenosis of the external auditory canal", "external auditory canal stenosis", "narrow auditory canal", "narrow auditory canals", "narrow ear canal", "narrow external auditory canal", "narrow external auditory canals", "narrow external auditory meatus", "narrowing of passageway from out ear to middle ear", "narrowing of passageway from outer ear to middle ear", "stenotic external auditory canal" ], "HP:0000373": [ "stenosis of the external auditory canal", "external auditory canal stenosis", "narrow auditory canal", "narrow auditory canals", "narrow ear canal", "narrow external auditory canal", "narrow external auditory canals", "narrow external auditory meatus", "narrowing of passageway from out ear to middle ear", "narrowing of passageway from outer ear to middle ear", "stenotic external auditory canal" ], "HP:0000403": [ "recurrent otitis medium", "recurrent otitis media", "frequent otitis medium", "frequent otitis media", "multiple episode of otitis medium", "multiple episodes of otitis media", "otitis medium , recurrent", "otitis media , recurrent", "recurrent episode of otitis medium", "recurrent episodes of otitis media", "recurrent middle ear infection", "susceptibility to otitis medium", "susceptibility to otitis media" ], "HP:0008622": [ "recurrent otitis medium", "recurrent otitis media", "frequent otitis medium", "frequent otitis media", "multiple episode of otitis medium", "multiple episodes of otitis media", "otitis medium , recurrent", "otitis media , recurrent", "recurrent episode of otitis medium", "recurrent episodes of otitis media", "recurrent middle ear infection", "susceptibility to otitis medium", "susceptibility to otitis media" ], "HP:0008623": [ "recurrent otitis medium", "recurrent otitis media", "frequent otitis medium", "frequent otitis media", "multiple episode of otitis medium", "multiple episodes of otitis media", "otitis medium , recurrent", "otitis media , recurrent", "recurrent episode of otitis medium", "recurrent episodes of otitis media", "recurrent middle ear infection", "susceptibility to otitis medium", "susceptibility to otitis media" ], "HP:0008624": [ "recurrent otitis medium", "recurrent otitis media", "frequent otitis medium", "frequent otitis media", "multiple episode of otitis medium", "multiple episodes of otitis media", "otitis medium , recurrent", "otitis media , recurrent", "recurrent episode of otitis medium", "recurrent episodes of otitis media", "recurrent middle ear infection", "susceptibility to otitis medium", "susceptibility to otitis media" ], "HP:0000405": [ "conductive hearing impairment", "conduction deafness", "conductive deafness", "conductive hearing loss", "hearing loss , conductive" ], "HP:0000367": [ "conductive hearing impairment", "conduction deafness", "conductive deafness", "conductive hearing loss", "hearing loss , conductive" ], "HP:0008581": [ "conductive hearing impairment", "conduction deafness", "conductive deafness", "conductive hearing loss", "hearing loss , conductive" ], "HP:0000407": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0000374": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0001753": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0001916": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008538": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008553": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008565": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008576": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008611": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008613": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0008614": [ "sensorineural hearing impairment", "hearing loss , sensorineural", "sensorineural deafness", "sensorineural hearing loss" ], "HP:0000408": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0000397": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0000406": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0008592": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0008601": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0008617": [ "progressive sensorineural hearing impairment", "bilateral progressive sensorineural hearing loss", "hearing loss , progressive sensorineural", "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , progressive", "progressive bilateral sensorineural hearing loss", "sensorineural hearing loss , progressive" ], "HP:0000410": [ "mixed hearing impairment", "hearing loss , mixed", "mixed hearing loss" ], "HP:0000411": [ "protrude ear", "protruding ear", "prominent ear", "prominent ears", "protruding ears" ], "HP:0000412": [ "protrude ear", "protruding ear", "prominent ear", "prominent ears", "protruding ears" ], "HP:0000413": [ "atresia of the external auditory canal", "absent auditory canal", "absent auditory canals", "absent ear canal", "absent external auditory canal", "absent external auditory canals", "atresia of the external auditory canals", "atretic auditory canal", "atretic auditory canals", "atretic external auditory canal", "atretic external auditory canals", "auditory canal atresia", "external acoustic meatus atresia", "external auditory canal atresia", "external auditory meatal atresia", "external auditory meatus atresia" ], "HP:0008547": [ "atresia of the external auditory canal", "absent auditory canal", "absent auditory canals", "absent ear canal", "absent external auditory canal", "absent external auditory canals", "atresia of the external auditory canals", "atretic auditory canal", "atretic auditory canals", "atretic external auditory canal", "atretic external auditory canals", "auditory canal atresia", "external acoustic meatus atresia", "external auditory canal atresia", "external auditory meatal atresia", "external auditory meatus atresia" ], "HP:0008564": [ "atresia of the external auditory canal", "absent auditory canal", "absent auditory canals", "absent ear canal", "absent external auditory canal", "absent external auditory canals", "atresia of the external auditory canals", "atretic auditory canal", "atretic auditory canals", "atretic external auditory canal", "atretic external auditory canals", "auditory canal atresia", "external acoustic meatus atresia", "external auditory canal atresia", "external auditory meatal atresia", "external auditory meatus atresia" ], "HP:0008626": [ "atresia of the external auditory canal", "absent auditory canal", "absent auditory canals", "absent ear canal", "absent external auditory canal", "absent external auditory canals", "atresia of the external auditory canals", "atretic auditory canal", "atretic auditory canals", "atretic external auditory canal", "atretic external auditory canals", "auditory canal atresia", "external acoustic meatus atresia", "external auditory canal atresia", "external auditory meatal atresia", "external auditory meatus atresia" ], "HP:0000414": [ "bulbous nose", "bulbous nasal tip", "potato nose" ], "HP:0000443": [ "bulbous nose", "bulbous nasal tip", "potato nose" ], "HP:0000415": [ "abnormality of the choanae" ], "HP:0000417": [ "slender nose" ], "HP:0000418": [ "narrow nasal ridge", "decrease width of dorsum of nose", "decreased width of dorsum of nose", "decrease width of nasal dorsum", "decreased width of nasal dorsum", "decrease width of nasal ridge", "decreased width of nasal ridge", "narrow dorsum of nose", "narrow nasal dorsum", "pinch nose", "pinched nose", "thin dorsum of nose", "thin nasal dorsum", "thin nasal ridge" ], "HP:0000419": [ "abnormality of the nasal septum", "abnormality of septum of nose", "anomaly of nasal septum", "anomaly of septum of nose" ], "HP:0000420": [ "short nasal septum", "decreased length of nasal septum", "decreased length of septum of nose", "short septum of nose" ], "HP:0000421": [ "epistaxis", "bloody nose", "frequent nosebleed", "frequent nosebleeds", "nasal haemorrhage", "nasal hemorrhage", "nose bleed", "nose bleeding", "nosebleed" ], "HP:0000422": [ "abnormal nasal bridge morphology", "abnormality of the bridge of the nose", "abnormality of the nasal bridge", "abnormality of the nasal root", "deformity of the bridge of the nose", "deformity of the nasal bridge", "malformation of the bridge of the nose", "malformation of the nasal bridge" ], "HP:0000423": [ "abnormal nasal bridge morphology", "abnormality of the bridge of the nose", "abnormality of the nasal bridge", "abnormality of the nasal root", "deformity of the bridge of the nose", "deformity of the nasal bridge", "malformation of the bridge of the nose", "malformation of the nasal bridge" ], "HP:0000426": [ "prominent nasal bridge", "convex bridge of nose", "convex nasal bridge", "elevate nasal bridge", "elevated nasal bridge", "high nasal bridge", "prominent bridge of nose", "prominent nasal root", "protrude bridge of nose", "protruding bridge of nose", "protrude nasal bridge", "protruding nasal bridge" ], "HP:0000432": [ "prominent nasal bridge", "convex bridge of nose", "convex nasal bridge", "elevate nasal bridge", "elevated nasal bridge", "high nasal bridge", "prominent bridge of nose", "prominent nasal root", "protrude bridge of nose", "protruding bridge of nose", "protrude nasal bridge", "protruding nasal bridge" ], "HP:0000442": [ "prominent nasal bridge", "convex bridge of nose", "convex nasal bridge", "elevate nasal bridge", "elevated nasal bridge", "high nasal bridge", "prominent bridge of nose", "prominent nasal root", "protrude bridge of nose", "protruding bridge of nose", "protrude nasal bridge", "protruding nasal bridge" ], "HP:0004498": [ "prominent nasal bridge", "convex bridge of nose", "convex nasal bridge", "elevate nasal bridge", "elevated nasal bridge", "high nasal bridge", "prominent bridge of nose", "prominent nasal root", "protrude bridge of nose", "protruding bridge of nose", "protrude nasal bridge", "protruding nasal bridge" ], "HP:0005287": [ "prominent nasal bridge", "convex bridge of nose", "convex nasal bridge", "elevate nasal bridge", "elevated nasal bridge", "high nasal bridge", "prominent bridge of nose", "prominent nasal root", "protrude bridge of nose", "protruding bridge of nose", "protrude nasal bridge", "protruding nasal bridge" ], "HP:0000429": [ "abnormality of the nasal ala", "abnormality of the nasal alae", "abnormality of the nasal alar cartilage", "deformity of the nasal ala", "deformity of the nasal alar cartilage", "malformation of the nasal ala", "malformation of the nasal alar cartilage" ], "HP:0000430": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0004497": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0004507": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0005276": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0005277": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0005286": [ "underdeveloped nasal ala", "underdeveloped nasal alae", "ala nasi , underdevelop", "ala nasi , underdeveloped", "alar cartilage hypoplasia", "decreased size of nasal ala", "decreased size of nasal alae", "hypoplastic ala nasae", "hypoplastic alae nasae", "hypoplastic ala nasi", "hypoplastic alae nasi", "hypoplastic alar cartilage", "hypoplastic alar nasae", "hypoplastic naris", "hypoplastic nares", "hypoplastic nasal ala", "hypoplastic nasal alae", "hypoplastic nasal wing", "hypoplastic nasal wings", "hypoplastic nostril", "hypoplastic nostrils", "nasal cartilage hypoplasia", "small nasal ala", "small nasal alae", "thin hypoplastic ala nasi", "thin hypoplastic alae nasi", "underdeveloped tissue around nostril" ], "HP:0000431": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0000424": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0004500": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0004504": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0004650": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0200139": [ "wide nasal bridge", "broad flat nasal bridge", "broad nasal bridge", "broad nasal root", "broaden nasal bridge", "broadened nasal bridge", "increase breadth of bridge of nose", "increased breadth of bridge of nose", "increase breadth of nasal bridge", "increased breadth of nasal bridge", "increase width of bridge of nose", "increased width of bridge of nose", "increase width of nasal bridge", "increased width of nasal bridge", "nasal bridge broad", "nasal bridge , wide", "wide bridge of nose", "widen nasal bridge", "widened nasal bridge" ], "HP:0000433": [ "abnormal nasal mucosa morphology", "abnormality of mucosa of nose", "abnormality of mucous membrane of nose", "abnormality of nasal mucous membrane", "abnormality of the nasal mucosa" ], "HP:0000434": [ "nasal mucosa telangiectasia", "angioectasia of mucosa of nose", "angioectasia of mucous membrane of nose", "angioectasia of nasal mucous membrane", "nasal mucous membrane telangiectasia", "spider vein of mucosa of nose", "spider veins of mucosa of nose", "spider vein of mucous membrane of nose", "spider veins of mucous membrane of nose", "spider vein of nasal mucous membrane", "spider veins of nasal mucous membrane", "telangiectasia of mucosa of nose", "telangiectasia of mucous membrane of nose", "telangiectasia of nasal mucous membrane" ], "HP:0000436": [ "abnormality of the nasal tip", "abnormality of tip of nose", "deformity of the nasal tip", "deformity of tip of nose", "malformation of the nasal tip", "malformation of tip of nose" ], "HP:0000437": [ "depress nasal tip", "depressed nasal tip", "cave in nasal tip", "caved in nasal tip", "depressed tip of nose", "flat nasal tip", "flat tip of nose", "flatten nasal tip", "flattened nasal tip", "nasal tip , depress", "nasal tip , depressed", "nasal tip , recess", "nasal tip , recessed", "nasal tip , retruded", "retruded tip of nose" ], "HP:0005279": [ "depress nasal tip", "depressed nasal tip", "cave in nasal tip", "caved in nasal tip", "depressed tip of nose", "flat nasal tip", "flat tip of nose", "flatten nasal tip", "flattened nasal tip", "nasal tip , depress", "nasal tip , depressed", "nasal tip , recess", "nasal tip , recessed", "nasal tip , retruded", "retruded tip of nose" ], "HP:0000444": [ "convex nasal ridge", "beak nose", "beaked nose", "beaklike protrusion", "convex dorsum of nose", "convex nasal dorsum", "hook nose", "hooked nose", "polly beak nasal deformity" ], "HP:0000445": [ "wide nose", "broad nose", "increase breadth of nose", "increased breadth of nose", "increase nasal breadth", "increased nasal breadth", "increase nasal width", "increased nasal width", "increase width of nose", "increased width of nose" ], "HP:0000438": [ "wide nose", "broad nose", "increase breadth of nose", "increased breadth of nose", "increase nasal breadth", "increased nasal breadth", "increase nasal width", "increased nasal width", "increase width of nose", "increased width of nose" ], "HP:0000446": [ "narrow nasal bridge", "narrow bridge of nose", "narrow nasal root", "nasal bridge , narrow", "nasal bridge , thin", "pinch bridge of nose", "pinched bridge of nose", "pinch nasal bridge", "pinched nasal bridge" ], "HP:0100782": [ "narrow nasal bridge", "narrow bridge of nose", "narrow nasal root", "nasal bridge , narrow", "nasal bridge , thin", "pinch bridge of nose", "pinched bridge of nose", "pinch nasal bridge", "pinched nasal bridge" ], "HP:0000447": [ "pear - shape nose", "pear - shaped nose" ], "HP:0000448": [ "prominent nose", "big nose", "disproportionately large nose", "hyperplasia of nose", "hypertrophy of nose", "increase nasal size", "increased nasal size", "increase size of nose", "increased size of nose", "large nose", "nasal hyperplasia", "nasal hypertrophy", "pronounce nose", "pronounced nose" ], "HP:0000461": [ "prominent nose", "big nose", "disproportionately large nose", "hyperplasia of nose", "hypertrophy of nose", "increase nasal size", "increased nasal size", "increase size of nose", "increased size of nose", "large nose", "nasal hyperplasia", "nasal hypertrophy", "pronounce nose", "pronounced nose" ], "HP:0005271": [ "prominent nose", "big nose", "disproportionately large nose", "hyperplasia of nose", "hypertrophy of nose", "increase nasal size", "increased nasal size", "increase size of nose", "increased size of nose", "large nose", "nasal hyperplasia", "nasal hypertrophy", "pronounce nose", "pronounced nose" ], "HP:0200140": [ "prominent nose", "big nose", "disproportionately large nose", "hyperplasia of nose", "hypertrophy of nose", "increase nasal size", "increased nasal size", "increase size of nose", "increased size of nose", "large nose", "nasal hyperplasia", "nasal hypertrophy", "pronounce nose", "pronounced nose" ], "HP:0000451": [ "triangular nasal tip", "triangular shape tip of nose", "triangular shaped tip of nose" ], "HP:0000452": [ "choanal stenosis", "coanal stenosis", "narrowing of the rear opening of the nasal cavity" ], "HP:0000453": [ "choanal atresia", "blockage of the rear opening of the nasal cavity", "obstruction of the rear opening of the nasal cavity" ], "HP:0000416": [ "choanal atresia", "blockage of the rear opening of the nasal cavity", "obstruction of the rear opening of the nasal cavity" ], "HP:0004503": [ "choanal atresia", "blockage of the rear opening of the nasal cavity", "obstruction of the rear opening of the nasal cavity" ], "HP:0000454": [ "flare nostril", "flared nostrils", "flare nasal ala", "flared nasal alae" ], "HP:0000455": [ "broad nasal tip", "broad tip of nose", "broad upturned nose", "broad , upturned nose", "increase breadth of nasal tip", "increased breadth of nasal tip", "increase breadth of tip of nose", "increased breadth of tip of nose", "increase width of nasal tip", "increased width of nasal tip", "increase width of tip of nose", "increased width of tip of nose", "nasal tip , broad", "nasal tip , wide", "wide tip of nose" ], "HP:0004501": [ "broad nasal tip", "broad tip of nose", "broad upturned nose", "broad , upturned nose", "increase breadth of nasal tip", "increased breadth of nasal tip", "increase breadth of tip of nose", "increased breadth of tip of nose", "increase width of nasal tip", "increased width of nasal tip", "increase width of tip of nose", "increased width of tip of nose", "nasal tip , broad", "nasal tip , wide", "wide tip of nose" ], "HP:0005269": [ "broad nasal tip", "broad tip of nose", "broad upturned nose", "broad , upturned nose", "increase breadth of nasal tip", "increased breadth of nasal tip", "increase breadth of tip of nose", "increased breadth of tip of nose", "increase width of nasal tip", "increased width of nasal tip", "increase width of tip of nose", "increased width of tip of nose", "nasal tip , broad", "nasal tip , wide", "wide tip of nose" ], "HP:0000456": [ "bifid nasal tip", "bifid tip of nose", "cleft nasal tip", "cleft tip of nose", "notch nasal tip", "notched nasal tip", "notched tip of nose" ], "HP:0005282": [ "bifid nasal tip", "bifid tip of nose", "cleft nasal tip", "cleft tip of nose", "notch nasal tip", "notched nasal tip", "notched tip of nose" ], "HP:0000457": [ "depress nasal ridge", "depressed nasal ridge", "depressed dorsum of nose", "depress nasal dorsum", "depressed nasal dorsum", "flat dorsum of nose", "flat nasal dorsum", "flat nose", "recess dorsum of nose", "recessed dorsum of nose", "recess nasal dorsum", "recessed nasal dorsum", "recess nasal ridge", "recessed nasal ridge", "retruded dorsum of nose", "retruded nasal dorsum", "retruded nasal ridge" ], "HP:0000458": [ "anosmia", "loss of smell", "lose smell", "lost smell" ], "HP:0000460": [ "narrow nose", "decrease nasal breadth", "decreased nasal breadth", "decrease nasal width", "decreased nasal width", "thin nose" ], "HP:0000463": [ "anteverted naris", "anteverted nares", "anteverted nose", "anteverted nostril", "anteverted nostrils", "nasal tip , upturned", "nostril anteverted", "nostrils anteverted", "upturned naris", "upturned nares", "upturned nasal tip", "upturned nasal tips", "upturned nose", "upturned nostril", "upturned nostrils" ], "HP:0000427": [ "anteverted naris", "anteverted nares", "anteverted nose", "anteverted nostril", "anteverted nostrils", "nasal tip , upturned", "nostril anteverted", "nostrils anteverted", "upturned naris", "upturned nares", "upturned nasal tip", "upturned nasal tips", "upturned nose", "upturned nostril", "upturned nostrils" ], "HP:0000435": [ "anteverted naris", "anteverted nares", "anteverted nose", "anteverted nostril", "anteverted nostrils", "nasal tip , upturned", "nostril anteverted", "nostrils anteverted", "upturned naris", "upturned nares", "upturned nasal tip", "upturned nasal tips", "upturned nose", "upturned nostril", "upturned nostrils" ], "HP:0000441": [ "anteverted naris", "anteverted nares", "anteverted nose", "anteverted nostril", "anteverted nostrils", "nasal tip , upturned", "nostril anteverted", "nostrils anteverted", "upturned naris", "upturned nares", "upturned nasal tip", "upturned nasal tips", "upturned nose", "upturned nostril", "upturned nostrils" ], "HP:0000464": [ "abnormality of the neck", "anomaly of the neck", "deformity of the neck", "malformation of the neck" ], "HP:0000465": [ "web neck", "webbed neck", "neck web", "neck webbing", "pterygium colli" ], "HP:0000466": [ "limited neck range of motion", "limited cervical range of motion" ], "HP:0000467": [ "neck muscle weakness", "flaccid neck", "floppy neck" ], "HP:0000468": [ "increase adipose tissue around the neck", "increased adipose tissue around the neck", "increase fat around the neck", "increased fat around the neck" ], "HP:0000470": [ "short neck", "cervical shortening", "decreased cervical height", "decreased cervical length", "decreased length of neck" ], "HP:0005992": [ "short neck", "cervical shortening", "decreased cervical height", "decreased cervical length", "decreased length of neck" ], "HP:0200137": [ "short neck", "cervical shortening", "decreased cervical height", "decreased cervical length", "decreased length of neck" ], "HP:0000471": [ "gastrointestinal angiodysplasia", "gi angiodysplasia" ], "HP:0000472": [ "long neck", "cervical elongation", "elongate neck", "elongated neck", "increased cervical length", "increased length of neck" ], "HP:0000473": [ "torticollis", "cervical dystonia", "loxia", "spasmodic torticollis", "wry neck" ], "HP:0000474": [ "thicken nuchal skin fold", "thickened nuchal skin fold", "excess nuchal skin", "increase nuchal fold thickness", "increased nuchal fold thickness", "thicken nuchal skin", "thickened nuchal skin", "thicken skin fold of neck", "thickened skin folds of neck", "thicken skin over the neck", "thickened skin over the neck" ], "HP:0000477": [ "thicken nuchal skin fold", "thickened nuchal skin fold", "excess nuchal skin", "increase nuchal fold thickness", "increased nuchal fold thickness", "thicken nuchal skin", "thickened nuchal skin", "thicken skin fold of neck", "thickened skin folds of neck", "thicken skin over the neck", "thickened skin over the neck" ], "HP:0000475": [ "broad neck", "increase width of neck", "increased width of neck", "thick neck", "wide neck" ], "HP:0000476": [ "cystic hygroma", "cystic hygroma of the neck" ], "HP:0000478": [ "abnormality of the eye", "abnormal eye", "eye disease" ], "HP:0000479": [ "abnormal retinal morphology", "abnormal retina", "abnormality of the retina", "anomaly of the retina", "retina issue", "retinal disease" ], "HP:0007938": [ "abnormal retinal morphology", "abnormal retina", "abnormality of the retina", "anomaly of the retina", "retina issue", "retinal disease" ], "HP:0000480": [ "retinal coloboma", "hole in the back of the eye", "obsolete bilateral retinal coloboma" ], "HP:0007808": [ "retinal coloboma", "hole in the back of the eye", "obsolete bilateral retinal coloboma" ], "HP:0000481": [ "abnormal cornea morphology", "abnormality of the cornea", "corneal abnormality", "corneal abnormalities", "cornela disease" ], "HP:0007771": [ "abnormal cornea morphology", "abnormality of the cornea", "corneal abnormality", "corneal abnormalities", "cornela disease" ], "HP:0007972": [ "abnormal cornea morphology", "abnormality of the cornea", "corneal abnormality", "corneal abnormalities", "cornela disease" ], "HP:0000482": [ "microcornea", "cornea of eye less than 10mm in diameter", "decrease corneal diameter", "decreased corneal diameter" ], "HP:0100688": [ "microcornea", "cornea of eye less than 10mm in diameter", "decrease corneal diameter", "decreased corneal diameter" ], "HP:0000483": [ "astigmatism", "abnormal curving of the cornea or lens of the eye" ], "HP:0000484": [ "hyperopic astigmatism" ], "HP:0000485": [ "megalocornea", "anterior megalophthalmos", "enlarge cornea", "enlarged cornea", "increase corneal diameter", "increased corneal diameter", "macrocornea" ], "HP:0007660": [ "megalocornea", "anterior megalophthalmos", "enlarge cornea", "enlarged cornea", "increase corneal diameter", "increased corneal diameter", "macrocornea" ], "HP:0000486": [ "strabismus", "cross - eyed", "squint", "squint eye", "squint eyes", "obsolete congenital strabismus" ], "HP:0000487": [ "strabismus", "cross - eyed", "squint", "squint eye", "squint eyes", "obsolete congenital strabismus" ], "HP:0000488": [ "retinopathy", "noninflammatory retina disease" ], "HP:0000489": [ "obsolete abnormality of globe location or size", "abnormal eye morphology", "abnormal eye structure", "abnormality of the globe", "abnormally shape eye", "abnormally shaped eye" ], "HP:0000490": [ "deeply set eye", "deep set eye", "deep - set eye", "deep - set eyes", "enophthalmos", "ocular depression", "sink eye", "sunken eye", "sunken eyes" ], "HP:0000663": [ "deeply set eye", "deep set eye", "deep - set eye", "deep - set eyes", "enophthalmos", "ocular depression", "sink eye", "sunken eye", "sunken eyes" ], "HP:0000491": [ "keratitis", "corneal inflammation" ], "HP:0000492": [ "abnormal eyelid morphology", "abnormality of the eyelid", "abnormality of the eyelids" ], "HP:0000285": [ "abnormal eyelid morphology", "abnormality of the eyelid", "abnormality of the eyelids" ], "HP:0000493": [ "abnormal foveal morphology", "abnormality of the fovea" ], "HP:0000494": [ "downslanted palpebral fissure", "downslanted palpebral fissures", "antimongoloid eye slant", "antimongoloid slant of palpebral fissure", "antimongoloid slant of palpebral fissures", "antimongoloid slant palpebral fissure", "antimongoloid slanted palpebral fissures", "down slant palpebral fissure", "down slanting palpebral fissures", "down - slanted palpebral fissure", "down - slanted palpebral fissures", "down - slant palpebral fissure", "down - slanting palpebral fissure", "down - slanting palpebral fissures", "downslanting palpebral fissure", "downslanting palpebral fissures", "downward slant palpebral fissure", "downward slanted palpebral fissures", "downward slanting of the opening between the eyelid", "downward slanting of the opening between the eyelids", "downward slanting palpebral fissures", "downward - slant palpebral fissure", "downward - slanting palpebral fissures", "palpebral fissure down - slanted", "palpebral fissures down - slanted" ], "HP:0007714": [ "downslanted palpebral fissure", "downslanted palpebral fissures", "antimongoloid eye slant", "antimongoloid slant of palpebral fissure", "antimongoloid slant of palpebral fissures", "antimongoloid slant palpebral fissure", "antimongoloid slanted palpebral fissures", "down slant palpebral fissure", "down slanting palpebral fissures", "down - slanted palpebral fissure", "down - slanted palpebral fissures", "down - slant palpebral fissure", "down - slanting palpebral fissure", "down - slanting palpebral fissures", "downslanting palpebral fissure", "downslanting palpebral fissures", "downward slant palpebral fissure", "downward slanted palpebral fissures", "downward slanting of the opening between the eyelid", "downward slanting of the opening between the eyelids", "downward slanting palpebral fissures", "downward - slant palpebral fissure", "downward - slanting palpebral fissures", "palpebral fissure down - slanted", "palpebral fissures down - slanted" ], "HP:0007908": [ "downslanted palpebral fissure", "downslanted palpebral fissures", "antimongoloid eye slant", "antimongoloid slant of palpebral fissure", "antimongoloid slant of palpebral fissures", "antimongoloid slant palpebral fissure", "antimongoloid slanted palpebral fissures", "down slant palpebral fissure", "down slanting palpebral fissures", "down - slanted palpebral fissure", "down - slanted palpebral fissures", "down - slant palpebral fissure", "down - slanting palpebral fissure", "down - slanting palpebral fissures", "downslanting palpebral fissure", "downslanting palpebral fissures", "downward slant palpebral fissure", "downward slanted palpebral fissures", "downward slanting of the opening between the eyelid", "downward slanting of the opening between the eyelids", "downward slanting palpebral fissures", "downward - slant palpebral fissure", "downward - slanting palpebral fissures", "palpebral fissure down - slanted", "palpebral fissures down - slanted" ], "HP:0000495": [ "recurrent corneal erosion", "recurrent corneal erosions", "corneal erosion , recurrent", "corneal erosions , recurrent", "epithelial corneal erosion", "epithelial corneal erosions", "recurrent breakdown of clear protective layer of eye", "recurrent corneal ulceration", "recurrent corneal ulcerations" ], "HP:0007674": [ "recurrent corneal erosion", "recurrent corneal erosions", "corneal erosion , recurrent", "corneal erosions , recurrent", "epithelial corneal erosion", "epithelial corneal erosions", "recurrent breakdown of clear protective layer of eye", "recurrent corneal ulceration", "recurrent corneal ulcerations" ], "HP:0007749": [ "recurrent corneal erosion", "recurrent corneal erosions", "corneal erosion , recurrent", "corneal erosions , recurrent", "epithelial corneal erosion", "epithelial corneal erosions", "recurrent breakdown of clear protective layer of eye", "recurrent corneal ulceration", "recurrent corneal ulcerations" ], "HP:0000496": [ "abnormality of eye movement", "abnormal extraocular movement", "abnormal extraocular movements", "abnormal eye motility", "abnormal eye movement", "abnormal eye movements", "abnormal motility of the globe of the eye", "abnormal movement of the globe of the eye", "abnormal ocular movement", "abnormal ocular movements", "eye movement abnormality", "eye movement abnormalities", "eye movement issue", "ocular movement abnormality", "ocular movement abnormalities", "oculomotor abnormality", "oculomotor abnormalities" ], "HP:0006860": [ "abnormality of eye movement", "abnormal extraocular movement", "abnormal extraocular movements", "abnormal eye motility", "abnormal eye movement", "abnormal eye movements", "abnormal motility of the globe of the eye", "abnormal movement of the globe of the eye", "abnormal ocular movement", "abnormal ocular movements", "eye movement abnormality", "eye movement abnormalities", "eye movement issue", "ocular movement abnormality", "ocular movement abnormalities", "oculomotor abnormality", "oculomotor abnormalities" ], "HP:0000497": [ "globe retraction and deviation on abduction" ], "HP:0000498": [ "blepharitis", "cellulitis of eyelid", "cellulitis of eyelids", "inflammation of eyelid", "inflammation of eyelids" ], "HP:0000499": [ "abnormal eyelash morphology", "abnormal eyelash", "abnormal eyelashes", "abnormality of the eyelash", "abnormality of the eyelashes", "eyelash abnormality" ], "HP:0004530": [ "abnormal eyelash morphology", "abnormal eyelash", "abnormal eyelashes", "abnormality of the eyelash", "abnormality of the eyelashes", "eyelash abnormality" ], "HP:0000501": [ "glaucoma" ], "HP:0000502": [ "abnormal conjunctiva morphology" ], "HP:0000503": [ "tortuosity of conjunctival vessel", "tortuosity of conjunctival vessels" ], "HP:0000504": [ "abnormality of vision", "abnormality of sight", "vision issue" ], "HP:0000505": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0000516": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0000566": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0007758": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0007860": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0007983": [ "visual impairment", "impaired vision", "loss of eyesight", "poor vision", "obsolete congenital visual impairment" ], "HP:0000506": [ "telecanthus", "corner of eye widely separate", "corners of eye widely separated", "dystopia canthorum", "increase distance between medial canthus", "increased distance between medial canthi", "increase intercanthal distance", "increased intercanthal distance" ], "HP:0000508": [ "ptosis", "blepharoptosis", "droop upper eyelid", "drooping upper eyelid", "eye drop", "eyelid ptosis" ], "HP:0000509": [ "conjunctivitis", "conjunctivitis , recurrent", "pink eye" ], "HP:0000510": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0000547": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0001127": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007635": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007645": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007742": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007816": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007826": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0007927": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0008036": [ "rod - cone dystrophy", "retinitis pigmentosa", "rod cone dystrophy", "obsolete tapetoretinal degeneration", "retinotapetal degeneration", "obsolete rod - cone dystrophy" ], "HP:0000511": [ "vertical supranuclear gaze palsy", "vertical gaze palsy" ], "HP:0000512": [ "abnormal electroretinogram", "abnormal electroretinography", "abnormal erg", "erg abnormal" ], "HP:0003285": [ "abnormal electroretinogram", "abnormal electroretinography", "abnormal erg", "erg abnormal" ], "HP:0000514": [ "slow saccadic eye movement", "slow saccadic eye movements", "slow eye movement", "slow eye movements", "slow saccade", "slow saccades", "slow visual tracking" ], "HP:0000517": [ "abnormality of the lens", "lens disease", "lens issue" ], "HP:0000518": [ "cataract", "cataracts", "clouding of the lens of the eye", "cloudy lens", "lens opacity", "lens opacities", "obsolete early cataract", "obsolete early cataracts", "obsolete cataract develop in second or third decade", "obsolete cataracts develop in second or third decade", "obsolete total cataract" ], "HP:0001113": [ "cataract", "cataracts", "clouding of the lens of the eye", "cloudy lens", "lens opacity", "lens opacities", "obsolete early cataract", "obsolete early cataracts", "obsolete cataract develop in second or third decade", "obsolete cataracts develop in second or third decade", "obsolete total cataract" ], "HP:0007825": [ "cataract", "cataracts", "clouding of the lens of the eye", "cloudy lens", "lens opacity", "lens opacities", "obsolete early cataract", "obsolete early cataracts", "obsolete cataract develop in second or third decade", "obsolete cataracts develop in second or third decade", "obsolete total cataract" ], "HP:0010700": [ "cataract", "cataracts", "clouding of the lens of the eye", "cloudy lens", "lens opacity", "lens opacities", "obsolete early cataract", "obsolete early cataracts", "obsolete cataract develop in second or third decade", "obsolete cataracts develop in second or third decade", "obsolete total cataract" ], "HP:0000519": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0001108": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0007679": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0007692": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0007726": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0007788": [ "developmental cataract", "bilateral congenital cataract", "bilateral congenital cataracts", "cataract , congenital", "clouding of the lens of the eye at birth", "congenital cataract", "congenital cataracts", "congenital cataract , bilateral", "congenital cataracts , bilateral", "obsolete nonnuclear polymorphic congenital cataract" ], "HP:0000520": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0000536": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0000644": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0000645": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0007711": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0007870": [ "proptosis", "anterior bulging of the globe", "anterior bulging of the globe of eye", "bulge eye", "bulging eye", "exophthalmos", "eyeball bulge out", "eyeballs bulging out", "ocular proptosis", "prominent eye", "prominent eyes", "prominent globe", "prominent globes", "protrude eye", "protruding eyes", "protrusio bulbi" ], "HP:0000522": [ "alacrima", "absence of tear in the eye", "absence of tears in the eyes", "absent lacrimal fluid", "absent lacrimal fluids", "absent tear secretion" ], "HP:0000523": [ "subcapsular cataract", "subcapsular cataracts", "subcapsular lenticular cataract", "subcapsular lenticular cataracts", "subcapsular opacity", "subcapsular opacities" ], "HP:0001490": [ "subcapsular cataract", "subcapsular cataracts", "subcapsular lenticular cataract", "subcapsular lenticular cataracts", "subcapsular opacity", "subcapsular opacities" ], "HP:0007978": [ "subcapsular cataract", "subcapsular cataracts", "subcapsular lenticular cataract", "subcapsular lenticular cataracts", "subcapsular opacity", "subcapsular opacities" ], "HP:0000524": [ "conjunctival telangiectasia", "conjunctival telangiectases", "small dilate blood vessel near membrane cover front of eye and eyelid", "small dilated blood vessels near membrane covering front of eye and eyelids", "telangiectasia , conjunctival" ], "HP:0000525": [ "abnormality iris morphology", "abnormality of the iris" ], "HP:0000526": [ "aniridia", "absent iris", "obsolete partial aniridia" ], "HP:0011498": [ "aniridia", "absent iris", "obsolete partial aniridia" ], "HP:0000527": [ "long eyelash", "long eyelashes", "ciliary trichomegaly", "eyelash trichomegaly", "increased length of eyelash", "increased length of eyelashes", "unusually long eyelash", "unusually long eyelashes" ], "HP:0000500": [ "long eyelash", "long eyelashes", "ciliary trichomegaly", "eyelash trichomegaly", "increased length of eyelash", "increased length of eyelashes", "unusually long eyelash", "unusually long eyelashes" ], "HP:0000528": [ "anophthalmia", "absence of eyeball", "absence of eyeballs", "absence of globe of eye", "absence of globes of eyes", "anophthalmia , clinical", "clinical anophthalmia , unilateral / bilateral", "failure of development of eyeball", "miss eyeball", "missing eyeball", "miss globe of eye", "missing globe of eye", "no eyeball", "no globe of eye", "ocular absence" ], "HP:0001485": [ "anophthalmia", "absence of eyeball", "absence of eyeballs", "absence of globe of eye", "absence of globes of eyes", "anophthalmia , clinical", "clinical anophthalmia , unilateral / bilateral", "failure of development of eyeball", "miss eyeball", "missing eyeball", "miss globe of eye", "missing globe of eye", "no eyeball", "no globe of eye", "ocular absence" ], "HP:0007664": [ "anophthalmia", "absence of eyeball", "absence of eyeballs", "absence of globe of eye", "absence of globes of eyes", "anophthalmia , clinical", "clinical anophthalmia , unilateral / bilateral", "failure of development of eyeball", "miss eyeball", "missing eyeball", "miss globe of eye", "missing globe of eye", "no eyeball", "no globe of eye", "ocular absence" ], "HP:0000529": [ "progressive visual loss", "decrease visual acuity , progressive", "decreased visual acuity , progressive", "loss of visual acuity", "progressive loss of vision", "progressive vision loss", "progressive visual acuity loss", "progressive visual impairment", "slowly progressive visual loss", "vision loss , progressive", "visual loss , progressive" ], "HP:0000560": [ "progressive visual loss", "decrease visual acuity , progressive", "decreased visual acuity , progressive", "loss of visual acuity", "progressive loss of vision", "progressive vision loss", "progressive visual acuity loss", "progressive visual impairment", "slowly progressive visual loss", "vision loss , progressive", "visual loss , progressive" ], "HP:0007735": [ "progressive visual loss", "decrease visual acuity , progressive", "decreased visual acuity , progressive", "loss of visual acuity", "progressive loss of vision", "progressive vision loss", "progressive visual acuity loss", "progressive visual impairment", "slowly progressive visual loss", "vision loss , progressive", "visual loss , progressive" ], "HP:0007753": [ "progressive visual loss", "decrease visual acuity , progressive", "decreased visual acuity , progressive", "loss of visual acuity", "progressive loss of vision", "progressive vision loss", "progressive visual acuity loss", "progressive visual impairment", "slowly progressive visual loss", "vision loss , progressive", "visual loss , progressive" ], "HP:0007967": [ "progressive visual loss", "decrease visual acuity , progressive", "decreased visual acuity , progressive", "loss of visual acuity", "progressive loss of vision", "progressive vision loss", "progressive visual acuity loss", "progressive visual impairment", "slowly progressive visual loss", "vision loss , progressive", "visual loss , progressive" ], "HP:0000531": [ "corneal crystal", "corneal crystals", "corneal deposit", "corneal deposits" ], "HP:0000532": [ "abnormal chorioretinal morphology", "chorioretinal abnormality", "obsolete chorioretinopathy" ], "HP:0001145": [ "abnormal chorioretinal morphology", "chorioretinal abnormality", "obsolete chorioretinopathy" ], "HP:0007888": [ "abnormal chorioretinal morphology", "chorioretinal abnormality", "obsolete chorioretinopathy" ], "HP:0000533": [ "chorioretinal atrophy", "chorioretinal thinning", "obsolete choroidal sclerosis" ], "HP:0001150": [ "chorioretinal atrophy", "chorioretinal thinning", "obsolete choroidal sclerosis" ], "HP:0007884": [ "chorioretinal atrophy", "chorioretinal thinning", "obsolete choroidal sclerosis" ], "HP:0007918": [ "chorioretinal atrophy", "chorioretinal thinning", "obsolete choroidal sclerosis" ], "HP:0007931": [ "chorioretinal atrophy", "chorioretinal thinning", "obsolete choroidal sclerosis" ], "HP:0000534": [ "abnormal eyebrow morphology", "abnormality of the eyebrow" ], "HP:0000535": [ "sparse and thin eyebrow", "thin , sparse eyebrow", "thin , sparse eyebrows" ], "HP:0002222": [ "sparse and thin eyebrow", "thin , sparse eyebrow", "thin , sparse eyebrows" ], "HP:0002554": [ "sparse and thin eyebrow", "thin , sparse eyebrow", "thin , sparse eyebrows" ], "HP:0004520": [ "sparse and thin eyebrow", "thin , sparse eyebrow", "thin , sparse eyebrows" ], "HP:0004551": [ "sparse and thin eyebrow", "thin , sparse eyebrow", "thin , sparse eyebrows" ], "HP:0000537": [ "epicanthus inversus" ], "HP:0000538": [ "pseudopapilledema" ], "HP:0000539": [ "abnormality of refraction" ], "HP:0000540": [ "hypermetropia", "farsightedness", "hyperopia", "long - sightedness" ], "HP:0000541": [ "retinal detachment", "detach retina", "detached retina" ], "HP:0007864": [ "retinal detachment", "detach retina", "detached retina" ], "HP:0008021": [ "retinal detachment", "detach retina", "detached retina" ], "HP:0000542": [ "impaired ocular adduction" ], "HP:0000543": [ "optic disc pallor", "disc pallor", "optic disk pallor", "pale optic disc", "pale optic discs", "pale optic disk" ], "HP:0001148": [ "optic disc pallor", "disc pallor", "optic disk pallor", "pale optic disc", "pale optic discs", "pale optic disk" ], "HP:0001484": [ "optic disc pallor", "disc pallor", "optic disk pallor", "pale optic disc", "pale optic discs", "pale optic disk" ], "HP:0000544": [ "external ophthalmoplegia", "chronic progressive external ophthalmoplegia", "ophthalmoplegia externa", "paralysis or weakness of muscle within or surround out part of eye", "paralysis or weakness of muscles within or surrounding outer part of eye", "progressive paralysis or weakness of muscle of eye motility", "progressive paralysis or weakness of muscles of eye motility", "progressive paralysis or weakness of muscle of eye movement", "progressive paralysis or weakness of muscles of eye movement" ], "HP:0007762": [ "external ophthalmoplegia", "chronic progressive external ophthalmoplegia", "ophthalmoplegia externa", "paralysis or weakness of muscle within or surround out part of eye", "paralysis or weakness of muscles within or surrounding outer part of eye", "progressive paralysis or weakness of muscle of eye motility", "progressive paralysis or weakness of muscles of eye motility", "progressive paralysis or weakness of muscle of eye movement", "progressive paralysis or weakness of muscles of eye movement" ], "HP:0000545": [ "myopia", "close sight", "close sighted", "near sight", "near sighted", "near sightedness", "nearsightedness", "obsolete congenital myopia" ], "HP:0001110": [ "myopia", "close sight", "close sighted", "near sight", "near sighted", "near sightedness", "nearsightedness", "obsolete congenital myopia" ], "HP:0007847": [ "myopia", "close sight", "close sighted", "near sight", "near sighted", "near sightedness", "nearsightedness", "obsolete congenital myopia" ], "HP:0008012": [ "myopia", "close sight", "close sighted", "near sight", "near sighted", "near sightedness", "nearsightedness", "obsolete congenital myopia" ], "HP:0000546": [ "retinal degeneration", "retina degeneration", "obsolete progressive retinal degeneration" ], "HP:0007632": [ "retinal degeneration", "retina degeneration", "obsolete progressive retinal degeneration" ], "HP:0007790": [ "retinal degeneration", "retina degeneration", "obsolete progressive retinal degeneration" ], "HP:0007863": [ "retinal degeneration", "retina degeneration", "obsolete progressive retinal degeneration" ], "HP:0007893": [ "retinal degeneration", "retina degeneration", "obsolete progressive retinal degeneration" ], "HP:0000548": [ "cone / cone - rod dystrophy", "cone rod dystrophy", "cone - rod retinal dystrophy" ], "HP:0008157": [ "cone / cone - rod dystrophy", "cone rod dystrophy", "cone - rod retinal dystrophy" ], "HP:0000549": [ "abnormal conjugate eye movement", "disconjugate eye movement", "disconjugate eye movements" ], "HP:0000550": [ "undetectable electroretinogram", "abolish electroretinogram", "abolished electroretinogram", "absent electroretinogram", "extinction of electroretinogram", "extinguish electroretinogram", "extinguished electroretinogram", "no light - evoked response on electroretinogram", "undetectable erg" ], "HP:0008042": [ "undetectable electroretinogram", "abolish electroretinogram", "abolished electroretinogram", "absent electroretinogram", "extinction of electroretinogram", "extinguish electroretinogram", "extinguished electroretinogram", "no light - evoked response on electroretinogram", "undetectable erg" ], "HP:0000551": [ "color vision defect", "abnormal color vision", "abnormal colour vision", "abnormality of color vision", "abnormality of colour vision", "color vision defect , severe", "color vision defects", "colour vision defect", "colour vision defect , severe", "colour vision defects", "loss in color vision", "loss in colour vision" ], "HP:0000552": [ "tritanomaly", "blue yellow color blindness", "blue yellow colour blindness", "blue - yellow dyschromatopsia", "blue / yellow color vision defect", "blue / yellow colour vision defect", "dyschromatopsia , blue - yellow" ], "HP:0000553": [ "abnormal uvea morphology", "abnormality of the uvea" ], "HP:0000554": [ "uveitis" ], "HP:0000555": [ "leukocoria", "leukokoria", "white pupillary reflex" ], "HP:0000556": [ "retinal dystrophy", "breakdown of light - sensitive cell in back of eye", "breakdown of light - sensitive cells in back of eye", "obsolete pericentral retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "HP:0007736": [ "retinal dystrophy", "breakdown of light - sensitive cell in back of eye", "breakdown of light - sensitive cells in back of eye", "obsolete pericentral retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "HP:0007910": [ "retinal dystrophy", "breakdown of light - sensitive cell in back of eye", "breakdown of light - sensitive cells in back of eye", "obsolete pericentral retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "HP:0007974": [ "retinal dystrophy", "breakdown of light - sensitive cell in back of eye", "breakdown of light - sensitive cells in back of eye", "obsolete pericentral retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "HP:0007982": [ "retinal dystrophy", "breakdown of light - sensitive cell in back of eye", "breakdown of light - sensitive cells in back of eye", "obsolete pericentral retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "HP:0000557": [ "buphthalmos", "enlarge eyeball", "enlarged eyeball" ], "HP:0000558": [ "rieger anomaly" ], "HP:0000559": [ "corneal scar", "corneal scarring" ], "HP:0000561": [ "absent eyelash", "absent eyelashes", "agenesis of eyelash", "agenesis of eyelashes", "aplasia of eyelash", "aplasia of eyelashes", "atrichia of eyelash", "atrichia of eyelashes", "failure of development of eyelash", "failure of development of eyelashes" ], "HP:0002288": [ "absent eyelash", "absent eyelashes", "agenesis of eyelash", "agenesis of eyelashes", "aplasia of eyelash", "aplasia of eyelashes", "atrichia of eyelash", "atrichia of eyelashes", "failure of development of eyelash", "failure of development of eyelashes" ], "HP:0004516": [ "absent eyelash", "absent eyelashes", "agenesis of eyelash", "agenesis of eyelashes", "aplasia of eyelash", "aplasia of eyelashes", "atrichia of eyelash", "atrichia of eyelashes", "failure of development of eyelash", "failure of development of eyelashes" ], "HP:0004539": [ "absent eyelash", "absent eyelashes", "agenesis of eyelash", "agenesis of eyelashes", "aplasia of eyelash", "aplasia of eyelashes", "atrichia of eyelash", "atrichia of eyelashes", "failure of development of eyelash", "failure of development of eyelashes" ], "HP:0007926": [ "absent eyelash", "absent eyelashes", "agenesis of eyelash", "agenesis of eyelashes", "aplasia of eyelash", "aplasia of eyelashes", "atrichia of eyelash", "atrichia of eyelashes", "failure of development of eyelash", "failure of development of eyelashes" ], "HP:0000563": [ "keratoconus", "bulge cornea", "bulging cornea", "conical cornea" ], "HP:0000564": [ "lacrimal duct atresia", "imperforate nasolacrimal duct", "imperforate nasolacrimal ducts", "nasolacrimal duct atresia", "unopened tear duct" ], "HP:0007729": [ "lacrimal duct atresia", "imperforate nasolacrimal duct", "imperforate nasolacrimal ducts", "nasolacrimal duct atresia", "unopened tear duct" ], "HP:0000565": [ "esotropia", "inward turn cross eye", "inward turning cross eyed" ], "HP:0000567": [ "chorioretinal coloboma", "birth defect that cause a hole in the innermost layer at the back of the eye", "birth defect that causes a hole in the innermost layer at the back of the eye", "choroid coloboma", "choroidal coloboma", "choroidoretinal coloboma", "coloboma of choroid", "obsolete choroid coloboma", "obsolete bilateral choroid coloboma" ], "HP:0000611": [ "chorioretinal coloboma", "birth defect that cause a hole in the innermost layer at the back of the eye", "birth defect that causes a hole in the innermost layer at the back of the eye", "choroid coloboma", "choroidal coloboma", "choroidoretinal coloboma", "coloboma of choroid", "obsolete choroid coloboma", "obsolete bilateral choroid coloboma" ], "HP:0007718": [ "chorioretinal coloboma", "birth defect that cause a hole in the innermost layer at the back of the eye", "birth defect that causes a hole in the innermost layer at the back of the eye", "choroid coloboma", "choroidal coloboma", "choroidoretinal coloboma", "coloboma of choroid", "obsolete choroid coloboma", "obsolete bilateral choroid coloboma" ], "HP:0007784": [ "chorioretinal coloboma", "birth defect that cause a hole in the innermost layer at the back of the eye", "birth defect that causes a hole in the innermost layer at the back of the eye", "choroid coloboma", "choroidal coloboma", "choroidoretinal coloboma", "coloboma of choroid", "obsolete choroid coloboma", "obsolete bilateral choroid coloboma" ], "HP:0007956": [ "chorioretinal coloboma", "birth defect that cause a hole in the innermost layer at the back of the eye", "birth defect that causes a hole in the innermost layer at the back of the eye", "choroid coloboma", "choroidal coloboma", "choroidoretinal coloboma", "coloboma of choroid", "obsolete choroid coloboma", "obsolete bilateral choroid coloboma" ], "HP:0000568": [ "microphthalmia", "abnormally small eyeball", "abnormally small globe of eye", "decreased size of eyeball", "decreased size of globe of eye", "microphthalmos", "nanophthalmos" ], "HP:0007996": [ "microphthalmia", "abnormally small eyeball", "abnormally small globe of eye", "decreased size of eyeball", "decreased size of globe of eye", "microphthalmos", "nanophthalmos" ], "HP:0000570": [ "abnormal saccadic eye movement", "abnormal saccadic eye movements", "abnormality of saccadic eye movement", "abnormality of saccadic eye movements", "impaired saccade", "impaired saccades" ], "HP:0000604": [ "abnormal saccadic eye movement", "abnormal saccadic eye movements", "abnormality of saccadic eye movement", "abnormality of saccadic eye movements", "impaired saccade", "impaired saccades" ], "HP:0000571": [ "hypometric saccade", "hypometric saccades" ], "HP:0000572": [ "visual loss", "loss of vision", "vision loss" ], "HP:0000573": [ "retinal hemorrhage", "retinal bleeding", "retinal haemorrhage", "retinal haemorrhages", "retinal hemorrhages" ], "HP:0000574": [ "thick eyebrow", "bushy eyebrow", "bushy eyebrows", "dense eyebrow", "heavy eyebrow", "heavy eyebrows", "hypertrichosis of the eyebrow", "hypertrichosis of the eyebrows", "prominent eyebrow", "prominent eyebrows", "thick eyebrows" ], "HP:0004546": [ "thick eyebrow", "bushy eyebrow", "bushy eyebrows", "dense eyebrow", "heavy eyebrow", "heavy eyebrows", "hypertrichosis of the eyebrow", "hypertrichosis of the eyebrows", "prominent eyebrow", "prominent eyebrows", "thick eyebrows" ], "HP:0000575": [ "scotoma", "blind spot" ], "HP:0000576": [ "centrocecal scotoma" ], "HP:0000577": [ "exotropia", "outward face eye ball", "outward facing eye ball", "obsolete congenital exotropia" ], "HP:0008033": [ "exotropia", "outward face eye ball", "outward facing eye ball", "obsolete congenital exotropia" ], "HP:0000579": [ "nasolacrimal duct obstruction", "block tear duct", "blocked tear duct", "lacrimal duct obstruction" ], "HP:0000580": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0001146": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007702": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007821": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007852": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007869": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007934": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0007961": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0008010": [ "pigmentary retinopathy", "pigmentary retinal deposit", "pigmentary retinal deposits", "retinal pigment clump", "retinal pigment clumping", "retinal pigmentary clumping", "retinal pigmentary degeneration", "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal deposit", "obsolete pigmentary retinal deposits", "obsolete pericentral pigmentary retinopathy", "obsolete peripheral retinopathy", "obsolete rarefaction of retinal pigmentation" ], "HP:0000581": [ "blepharophimosis", "decrease width of palpebral fissure", "decreased width of palpebral fissure", "narrow opening between the eyelid", "narrow opening between the eyelids" ], "HP:0000507": [ "blepharophimosis", "decrease width of palpebral fissure", "decreased width of palpebral fissure", "narrow opening between the eyelid", "narrow opening between the eyelids" ], "HP:0000513": [ "blepharophimosis", "decrease width of palpebral fissure", "decreased width of palpebral fissure", "narrow opening between the eyelid", "narrow opening between the eyelids" ], "HP:0000582": [ "upslanted palpebral fissure", "mongoloid slant", "upslanted palpebral fissures", "upslanting palpebral fissure", "upslanting palpebral fissures", "upward slant palpebral fissure", "upward slanted palpebral fissures", "upward slanting of palpebral fissure", "upward slanting of palpebral fissures", "upward slanting of the opening between the eyelid", "upward slanting of the opening between the eyelids", "upward slanting palpebral fissures" ], "HP:0000584": [ "punctate corneal epithelial erosion", "punctate corneal epithelial erosions" ], "HP:0000585": [ "band keratopathy", "calcific band keratopathy" ], "HP:0000586": [ "shallow orbit", "shallow orbits", "decrease depth of eye socket", "decreased depth of eye sockets", "decrease depth of orbit", "decreased depth of orbits", "shallow eye socket", "shallow eye sockets", "small shallow orbit", "small shallow orbits" ], "HP:0002706": [ "shallow orbit", "shallow orbits", "decrease depth of eye socket", "decreased depth of eye sockets", "decrease depth of orbit", "decreased depth of orbits", "shallow eye socket", "shallow eye sockets", "small shallow orbit", "small shallow orbits" ], "HP:0000587": [ "abnormality of the optic nerve", "optic nerve abnormality", "optic nerve abnormalities", "optic nerve issue" ], "HP:0000588": [ "optic disc coloboma", "coloboma of optic nerve", "optic disk coloboma", "optic nerve coloboma" ], "HP:0007997": [ "optic disc coloboma", "coloboma of optic nerve", "optic disk coloboma", "optic nerve coloboma" ], "HP:0000589": [ "coloboma", "notch pupil", "notched pupil", "ocular coloboma", "ocular colobomas" ], "HP:0007767": [ "coloboma", "notch pupil", "notched pupil", "ocular coloboma", "ocular colobomas" ], "HP:0007995": [ "coloboma", "notch pupil", "notched pupil", "ocular coloboma", "ocular colobomas" ], "HP:0000590": [ "progressive external ophthalmoplegia", "external ophthalmoplegia , progressive" ], "HP:0000562": [ "progressive external ophthalmoplegia", "external ophthalmoplegia , progressive" ], "HP:0000591": [ "abnormal sclera morphology", "abnormality of the outer white part of eyeball", "abnormality of the sclera" ], "HP:0000592": [ "blue sclerae", "blue out white part of eyeball", "blue outer white part of eyeball", "blue sclera", "bluish sclerae", "white of eye be a bluish - gray color", "whites of eyes are a bluish - gray color", "white of eye be a bluish - gray colour", "whites of eyes are a bluish - gray colour" ], "HP:0000593": [ "abnormal anterior chamber morphology", "abnormality of the anterior chamber", "anterior chamber anomaly", "anterior chamber anomalies", "ocular anterior chamber abnormality" ], "HP:0000594": [ "shallow anterior chamber", "obsolete slitlike anterior chamber angle in child", "obsolete slitlike anterior chamber angles in children" ], "HP:0007756": [ "shallow anterior chamber", "obsolete slitlike anterior chamber angle in child", "obsolete slitlike anterior chamber angles in children" ], "HP:0000597": [ "ophthalmoparesis", "extraocular muscle palsy", "extraocular muscle paralysis", "weakness of extraocular eye movement", "weakness of muscle control eye movement", "weakness of muscles controlling eye movement" ], "HP:0007701": [ "ophthalmoparesis", "extraocular muscle palsy", "extraocular muscle paralysis", "weakness of extraocular eye movement", "weakness of muscle control eye movement", "weakness of muscles controlling eye movement" ], "HP:0008044": [ "ophthalmoparesis", "extraocular muscle palsy", "extraocular muscle paralysis", "weakness of extraocular eye movement", "weakness of muscle control eye movement", "weakness of muscles controlling eye movement" ], "HP:0000598": [ "abnormality of the ear", "ear anomaly" ], "HP:0000599": [ "abnormality of the frontal hairline", "abnormality of hairline at front of head" ], "HP:0000600": [ "abnormality of the pharynx" ], "HP:0000601": [ "hypotelorism", "abnormally close eye", "abnormally close eyes", "closely spaced eye", "closely spaced eyes", "decrease distance between eye socket", "decreased distance between eye sockets", "decrease distance between eye", "decreased distance between eyes", "decrease interpupillary distance", "decreased interpupillary distance", "decrease orbital separation", "decreased orbital separation", "ocular hypotelorism" ], "HP:0007877": [ "hypotelorism", "abnormally close eye", "abnormally close eyes", "closely spaced eye", "closely spaced eyes", "decrease distance between eye socket", "decreased distance between eye sockets", "decrease distance between eye", "decreased distance between eyes", "decrease interpupillary distance", "decreased interpupillary distance", "decrease orbital separation", "decreased orbital separation", "ocular hypotelorism" ], "HP:0000602": [ "ophthalmoplegia", "eye muscle paralysis", "paralysis of extraocular eye movement" ], "HP:0000603": [ "central scotoma", "blind spot locate at fixation point", "blind spot located at fixation point", "central blind spot", "central scotomata" ], "HP:0000605": [ "supranuclear gaze palsy", "supranuclear gaze paralysis" ], "HP:0000606": [ "abnormality of the periorbital region", "abnormality of the region around the eye", "abnormality of the region around the eye socket", "anomaly of the periorbital region", "deformity of the periorbital region", "malformation of the periorbital region" ], "HP:0000607": [ "periorbital wrinkle", "periorbital wrinkles", "excess periorbital skin wrinkling", "periorbital rhytids", "periorbital wrinkling", "wrinkle around the eye", "wrinkles around the eyes" ], "HP:0000608": [ "macular degeneration", "pigment macular degeneration", "pigmented macular degeneration", "obsolete age - related macular degeneration" ], "HP:0007694": [ "macular degeneration", "pigment macular degeneration", "pigmented macular degeneration", "obsolete age - related macular degeneration" ], "HP:0007868": [ "macular degeneration", "pigment macular degeneration", "pigmented macular degeneration", "obsolete age - related macular degeneration" ], "HP:0000609": [ "optic nerve hypoplasia", "hypoplastic optic nerve", "hypoplastic optic nerves", "underdeveloped optic nerve", "underdeveloped optic nerves" ], "HP:0007273": [ "optic nerve hypoplasia", "hypoplastic optic nerve", "hypoplastic optic nerves", "underdeveloped optic nerve", "underdeveloped optic nerves" ], "HP:0000610": [ "abnormal choroid morphology", "abnormality of the choroid", "choroid disease", "obsolete aplasia / hypoplasia of the choroid" ], "HP:0001122": [ "abnormal choroid morphology", "abnormality of the choroid", "choroid disease", "obsolete aplasia / hypoplasia of the choroid" ], "HP:0000612": [ "iris coloboma", "cat eye", "coloboma of iris", "coloboma of the iris", "keyhole iris", "obsolete iridoretinal coloboma", "obsolete irido - fundal coloboma" ], "HP:0007744": [ "iris coloboma", "cat eye", "coloboma of iris", "coloboma of the iris", "keyhole iris", "obsolete iridoretinal coloboma", "obsolete irido - fundal coloboma" ], "HP:0007748": [ "iris coloboma", "cat eye", "coloboma of iris", "coloboma of the iris", "keyhole iris", "obsolete iridoretinal coloboma", "obsolete irido - fundal coloboma" ], "HP:0000613": [ "photophobia", "extreme sensitivity of the eye to light", "extreme sensitivity of the eyes to light", "light hypersensitivity", "photodysphoria" ], "HP:0000614": [ "abnormal nasolacrimal system morphology", "abnormality of the nasolacrimal system" ], "HP:0000615": [ "abnormal pupil morphology", "abnormal pupillary morphology", "abnormality of the pupil", "pupillary abnormality", "pupillary abnormalities", "obsolete abnormal pupillary morphology" ], "HP:0008018": [ "abnormal pupil morphology", "abnormal pupillary morphology", "abnormality of the pupil", "pupillary abnormality", "pupillary abnormalities", "obsolete abnormal pupillary morphology" ], "HP:0030960": [ "abnormal pupil morphology", "abnormal pupillary morphology", "abnormality of the pupil", "pupillary abnormality", "pupillary abnormalities", "obsolete abnormal pupillary morphology" ], "HP:0000616": [ "miosis", "constrict pupil", "constricted pupils", "pupillary constriction" ], "HP:0000617": [ "abnormality of ocular smooth pursuit", "abnormal smooth pursuit", "abnormal smooth pursuits", "disrupt ocular pursuit movement", "disrupted ocular pursuit movements", "impaired smooth pursuit ocular movement", "impaired smooth pursuit ocular movements", "irregular visual pursuit movement", "irregular visual pursuit movements" ], "HP:0007671": [ "abnormality of ocular smooth pursuit", "abnormal smooth pursuit", "abnormal smooth pursuits", "disrupt ocular pursuit movement", "disrupted ocular pursuit movements", "impaired smooth pursuit ocular movement", "impaired smooth pursuit ocular movements", "irregular visual pursuit movement", "irregular visual pursuit movements" ], "HP:0008006": [ "abnormality of ocular smooth pursuit", "abnormal smooth pursuit", "abnormal smooth pursuits", "disrupt ocular pursuit movement", "disrupted ocular pursuit movements", "impaired smooth pursuit ocular movement", "impaired smooth pursuit ocular movements", "irregular visual pursuit movement", "irregular visual pursuit movements" ], "HP:0000618": [ "blindness", "legal blindness", "total vision loss" ], "HP:0007839": [ "blindness", "legal blindness", "total vision loss" ], "HP:0000619": [ "impaired convergence", "convergence insufficiency" ], "HP:0000620": [ "dacryocystitis", "dacrocystitis", "infection of the lacrimal sac" ], "HP:0000621": [ "entropion", "eyelid fold in", "eyelid folded in", "eyelid turn in", "eyelid turned in", "invert eyelid", "inverted eyelid" ], "HP:0000622": [ "blur vision", "blurred vision" ], "HP:0007723": [ "blur vision", "blurred vision" ], "HP:0000623": [ "supranuclear ophthalmoplegia" ], "HP:0000625": [ "eyelid coloboma", "cleft eyelid", "full thickness defect of the eyelid", "notch eyelid", "notched eyelid" ], "HP:0000627": [ "posterior embryotoxon", "embryotoxon" ], "HP:0100740": [ "posterior embryotoxon", "embryotoxon" ], "HP:0000629": [ "periorbital fullness", "fullness around the eye", "fullness around the eyes", "periorbital puffiness", "periorbital swell", "periorbital swelling", "puffiness around eye", "puffy eye", "puffy eyes", "swell around the eye", "swelling around the eyes" ], "HP:0000630": [ "abnormal retinal artery morphology", "abnormality of retinal artery", "abnormality of retinal arteries", "retinal arterial abnormality" ], "HP:0000631": [ "retinal arterial tortuosity", "retinal artery tortuousity" ], "HP:0000632": [ "lacrimation abnormality", "abnormality of tear production" ], "HP:0000521": [ "lacrimation abnormality", "abnormality of tear production" ], "HP:0000633": [ "decrease lacrimation", "decreased lacrimation", "decrease tear secretion", "decreased tear secretion" ], "HP:0000634": [ "impaired ocular abduction" ], "HP:0000635": [ "blue iris", "blue irides", "blue eye", "blue eyes" ], "HP:0000636": [ "upper eyelid coloboma", "cleft upper eyelid", "coloboma of the upper eyelid", "full thickness defect of the upper eyelid", "notch upper eyelid", "notched upper eyelid", "upper eyelid colobomas" ], "HP:0000637": [ "long palpebral fissure", "broad opening between the eyelid", "broad opening between the eyelids", "broad palpebral fissure", "long open between the eyelid", "long opening between the eyelids", "long palpebral fissures", "wide opening between the eyelid", "wide opening between the eyelids", "wide palpebral fissure", "wide palpebral fissures" ], "HP:0007904": [ "long palpebral fissure", "broad opening between the eyelid", "broad opening between the eyelids", "broad palpebral fissure", "long open between the eyelid", "long opening between the eyelids", "long palpebral fissures", "wide opening between the eyelid", "wide opening between the eyelids", "wide palpebral fissure", "wide palpebral fissures" ], "HP:0000639": [ "nystagmus", "involuntary , rapid , rhythmic eye movement", "involuntary , rapid , rhythmic eye movements" ], "HP:0000640": [ "gaze - evoke nystagmus", "gaze - evoked nystagmus" ], "HP:0000641": [ "dysmetric saccade", "dysmetric saccades", "dysmetric eye movement", "dysmetric eye movements", "dysmetric eye saccade", "dysmetric eye saccades", "uncoordinated eye movement" ], "HP:0000642": [ "red - green dyschromatopsia", "dyschromatopsia with red - green confusion", "red green color blindness", "red green colour blindness", "red / green color vision defect", "red / green colour vision defect" ], "HP:0007960": [ "red - green dyschromatopsia", "dyschromatopsia with red - green confusion", "red green color blindness", "red green colour blindness", "red / green color vision defect", "red / green colour vision defect" ], "HP:0000643": [ "blepharospasm", "eyelid spasm", "eyelid twitching", "involuntary closure of eyelid", "spontaneous closure of eyelid" ], "HP:0007907": [ "blepharospasm", "eyelid spasm", "eyelid twitching", "involuntary closure of eyelid", "spontaneous closure of eyelid" ], "HP:0000646": [ "amblyopia", "lazy eye", "wander eye", "wandering eye", "wandering eyes" ], "HP:0000647": [ "sclerocornea", "hardening of skin and connective tissue" ], "HP:0000648": [ "optic atrophy", "optic nerve atrophy", "optic - nerve degeneration" ], "HP:0007751": [ "optic atrophy", "optic nerve atrophy", "optic - nerve degeneration" ], "HP:0007855": [ "optic atrophy", "optic nerve atrophy", "optic - nerve degeneration" ], "HP:0000649": [ "abnormality of visual evoked potential", "abnormality of visual evoked potentials", "abnormal vision evoke potential", "abnormal vision evoked potentials", "abnormal visual evoke potential", "abnormal visual evoked potential", "abnormal visual evoke response", "abnormal visual evoked responses", "abnormal visual - evoked potential", "abnormal visual - evoked potentials", "vep abnormality", "vep abnormalities" ], "HP:0000650": [ "abnormal amplitude of pattern reversal visual evoke potential", "abnormal amplitude of pattern reversal visual evoked potentials" ], "HP:0000651": [ "diplopia", "double vision" ], "HP:0000652": [ "low eyelid coloboma", "lower eyelid coloboma", "cleft lower eyelid", "coloboma of low eyelid", "coloboma of lower eyelid", "full thickness defect of the low eyelid", "full thickness defect of the lower eyelid", "low lid coloboma", "lower lid coloboma", "notch low eyelid", "notched lower eyelid" ], "HP:0007909": [ "low eyelid coloboma", "lower eyelid coloboma", "cleft lower eyelid", "coloboma of low eyelid", "coloboma of lower eyelid", "full thickness defect of the low eyelid", "full thickness defect of the lower eyelid", "low lid coloboma", "lower lid coloboma", "notch low eyelid", "notched lower eyelid" ], "HP:0000653": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0002284": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0004519": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0004531": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0004555": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0004777": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0007853": [ "sparse eyelash", "sparse eyelashes", "hypotrichosis of eyelash", "hypotrichosis of eyelashes", "partial absence of eyelash", "partial absence of eyelashes", "scant eyelash", "scant eyelashes", "scanty eyelash", "scanty eyelashes", "thin eyelash", "thin eyelashes" ], "HP:0000654": [ "decrease light - and dark - adapted electroretinogram amplitude", "decreased light - and dark - adapted electroretinogram amplitude", "decrease amplitude on flash visual electroretinogram", "decreased amplitudes on flash visual electroretinogram", "decrease electroretinogram", "decreased electroretinogram", "decrease electroretinogram amplitude", "decreased electroretinogram amplitude", "decrease electroretinogram response", "decreased electroretinogram response", "decrease erg amplitude", "decreased erg amplitude", "flatten or absent electroretinogram", "flattened or absent electroretinogram", "reduce electroretinogram", "reduced electroretinogram", "reduce erg", "reduced erg", "reduce or abolish electroretinogram", "reduced or abolished electroretinogram" ], "HP:0007636": [ "decrease light - and dark - adapted electroretinogram amplitude", "decreased light - and dark - adapted electroretinogram amplitude", "decrease amplitude on flash visual electroretinogram", "decreased amplitudes on flash visual electroretinogram", "decrease electroretinogram", "decreased electroretinogram", "decrease electroretinogram amplitude", "decreased electroretinogram amplitude", "decrease electroretinogram response", "decreased electroretinogram response", "decrease erg amplitude", "decreased erg amplitude", "flatten or absent electroretinogram", "flattened or absent electroretinogram", "reduce electroretinogram", "reduced electroretinogram", "reduce erg", "reduced erg", "reduce or abolish electroretinogram", "reduced or abolished electroretinogram" ], "HP:0007689": [ "decrease light - and dark - adapted electroretinogram amplitude", "decreased light - and dark - adapted electroretinogram amplitude", "decrease amplitude on flash visual electroretinogram", "decreased amplitudes on flash visual electroretinogram", "decrease electroretinogram", "decreased electroretinogram", "decrease electroretinogram amplitude", "decreased electroretinogram amplitude", "decrease electroretinogram response", "decreased electroretinogram response", "decrease erg amplitude", "decreased erg amplitude", "flatten or absent electroretinogram", "flattened or absent electroretinogram", "reduce electroretinogram", "reduced electroretinogram", "reduce erg", "reduced erg", "reduce or abolish electroretinogram", "reduced or abolished electroretinogram" ], "HP:0007845": [ "decrease light - and dark - adapted electroretinogram amplitude", "decreased light - and dark - adapted electroretinogram amplitude", "decrease amplitude on flash visual electroretinogram", "decreased amplitudes on flash visual electroretinogram", "decrease electroretinogram", "decreased electroretinogram", "decrease electroretinogram amplitude", "decreased electroretinogram amplitude", "decrease electroretinogram response", "decreased electroretinogram response", "decrease erg amplitude", "decreased erg amplitude", "flatten or absent electroretinogram", "flattened or absent electroretinogram", "reduce electroretinogram", "reduced electroretinogram", "reduce erg", "reduced erg", "reduce or abolish electroretinogram", "reduced or abolished electroretinogram" ], "HP:0000655": [ "obsolete vitreoretinal degeneration", "vitreoretinopathy", "vitreoretinal abnormality", "vitreoretinal degeneration" ], "HP:0000656": [ "ectropion", "evert eyelid", "everted eyelid", "eyelid fold out", "eyelid folded out", "eyelid turn out", "eyelid turned out" ], "HP:0000657": [ "oculomotor apraxia", "defective or absent horizontal voluntary eye movement", "defective or absent horizontal voluntary eye movements", "ocular motor apraxia" ], "HP:0000628": [ "oculomotor apraxia", "defective or absent horizontal voluntary eye movement", "defective or absent horizontal voluntary eye movements", "ocular motor apraxia" ], "HP:0007764": [ "oculomotor apraxia", "defective or absent horizontal voluntary eye movement", "defective or absent horizontal voluntary eye movements", "ocular motor apraxia" ], "HP:0000658": [ "eyelid apraxia", "difficulty open the eyelid", "difficulty opening the eyelids" ], "HP:0000659": [ "peter anomaly", "peters anomaly" ], "HP:0000660": [ "lipemia retinalis" ], "HP:0000661": [ "palpebral fissure narrow on adduction", "palpebral fissure narrowing on adduction" ], "HP:0000662": [ "nyctalopia", "difficulty with night vision", "difficulties with night vision", "night blindness", "night - blindness", "poor night vision" ], "HP:0007653": [ "nyctalopia", "difficulty with night vision", "difficulties with night vision", "night blindness", "night - blindness", "poor night vision" ], "HP:0007725": [ "nyctalopia", "difficulty with night vision", "difficulties with night vision", "night blindness", "night - blindness", "poor night vision" ], "HP:0007865": [ "nyctalopia", "difficulty with night vision", "difficulties with night vision", "night blindness", "night - blindness", "poor night vision" ], "HP:0007895": [ "nyctalopia", "difficulty with night vision", "difficulties with night vision", "night blindness", "night - blindness", "poor night vision" ], "HP:0000664": [ "synophrys", "monobrow", "synophris", "unibrow" ], "HP:0002210": [ "synophrys", "monobrow", "synophris", "unibrow" ], "HP:0000666": [ "horizontal nystagmus", "nystagmus , horizontal" ], "HP:0000667": [ "phthisis bulbi" ], "HP:0000668": [ "hypodontia", "failure of development of between one and six teeth", "miss between one and six teeth", "missing between one and six teeth" ], "HP:0000670": [ "carious teeth", "caries", "cariosity of teeth", "dental caries", "dental cavity", "dental cavities", "dental decay", "early dental caries", "frequent caries", "rot teeth", "rotting teeth", "tooth cavity", "tooth cavities", "tooth decay" ], "HP:0006295": [ "carious teeth", "caries", "cariosity of teeth", "dental caries", "dental cavity", "dental cavities", "dental decay", "early dental caries", "frequent caries", "rot teeth", "rotting teeth", "tooth cavity", "tooth cavities", "tooth decay" ], "HP:0006306": [ "carious teeth", "caries", "cariosity of teeth", "dental caries", "dental cavity", "dental cavities", "dental decay", "early dental caries", "frequent caries", "rot teeth", "rotting teeth", "tooth cavity", "tooth cavities", "tooth decay" ], "HP:0000674": [ "anodontia", "anodontia vera", "complete agenesis of all teeth", "complete anodontia", "complete dental agenesis", "failure of development of all teeth", "miss all teeth", "missing all teeth", "total absence of all teeth", "total anodontia" ], "HP:0006484": [ "anodontia", "anodontia vera", "complete agenesis of all teeth", "complete anodontia", "complete dental agenesis", "failure of development of all teeth", "miss all teeth", "missing all teeth", "total absence of all teeth", "total anodontia" ], "HP:0000675": [ "macrodontia of permanent maxillary central incisor", "hyperplasia of permanent maxillary central incisor", "hypertrophy of permanent maxillary central incisor", "increase size of permanent maxillary central incisor", "increased size of permanent maxillary central incisor", "increase size of permanent upper central incisor", "increased size of permanent upper central incisor", "increase width of permanent maxillary central incisor", "increased width of permanent maxillary central incisor", "increase width of permanent upper central incisor", "increased width of permanent upper central incisor", "large permanent maxillary central incisor", "large permanent upper central incisor", "long maxillary central incisor", "long maxillary central incisors", "prominent upper incisor", "prominent upper incisors", "prominent , protrude upper incisor", "prominent , protruding upper incisors" ], "HP:0000676": [ "abnormality of the incisor" ], "HP:0006340": [ "abnormality of the incisor" ], "HP:0000677": [ "oligodontia", "failure of development of more than six teeth", "miss more than six teeth", "missing more than six teeth", "number of teeth decrease by more than six", "number of teeth decreased by more than six", "partial anodontia" ], "HP:0000702": [ "oligodontia", "failure of development of more than six teeth", "miss more than six teeth", "missing more than six teeth", "number of teeth decrease by more than six", "number of teeth decreased by more than six", "partial anodontia" ], "HP:0000678": [ "dental crowding", "crowd teeth", "crowded teeth", "dental overcrowding", "inadequate arch length for tooth size", "overcrowding of teeth", "tooth mass arch size discrepancy", "tooth size discrepancy" ], "HP:0000679": [ "taurodontia", "large elongate pulp chamber", "large elongated pulp chamber", "taurodont", "taurodontism" ], "HP:0000680": [ "delay eruption of primary teeth", "delayed eruption of primary teeth", "delay eruption of baby teeth", "delayed eruption of baby teeth", "delay eruption of deciduous teeth", "delayed eruption of deciduous teeth", "delay eruption of milk teeth", "delayed eruption of milk teeth", "delay primary teeth eruption", "delayed primary teeth eruption", "late eruption of baby teeth", "late eruption of milk teeth", "late eruption of primary teeth" ], "HP:0000682": [ "abnormal dental enamel morphology", "abnormal tooth enamel", "abnormality of dental enamel", "defective tooth enamel", "dystrophic tooth enamel", "enamel abnormality", "enamel abnormalities", "malformation of dental enamel", "malformation of tooth enamel" ], "HP:0006322": [ "abnormal dental enamel morphology", "abnormal tooth enamel", "abnormality of dental enamel", "defective tooth enamel", "dystrophic tooth enamel", "enamel abnormality", "enamel abnormalities", "malformation of dental enamel", "malformation of tooth enamel" ], "HP:0000683": [ "grayish enamel", "gray color tooth enamel", "gray colored tooth enamel", "gray tooth shade", "grey colour tooth enamel", "grey coloured tooth enamel", "grey tooth shade", "greyish enamel" ], "HP:0000684": [ "delay eruption of teeth", "delayed eruption of teeth", "delay dental development", "delayed dental development", "delay dental eruption", "delayed dental eruption", "delay eruption", "delayed eruption", "delay teeth eruption", "delayed teeth eruption", "delay tooth eruption", "delayed tooth eruption", "eruption , delay", "eruption , delayed", "late eruption of teeth", "late tooth eruption" ], "HP:0000686": [ "delay eruption of teeth", "delayed eruption of teeth", "delay dental development", "delayed dental development", "delay dental eruption", "delayed dental eruption", "delay eruption", "delayed eruption", "delay teeth eruption", "delayed teeth eruption", "delay tooth eruption", "delayed tooth eruption", "eruption , delay", "eruption , delayed", "late eruption of teeth", "late tooth eruption" ], "HP:0006294": [ "delay eruption of teeth", "delayed eruption of teeth", "delay dental development", "delayed dental development", "delay dental eruption", "delayed dental eruption", "delay eruption", "delayed eruption", "delay teeth eruption", "delayed teeth eruption", "delay tooth eruption", "delayed tooth eruption", "eruption , delay", "eruption , delayed", "late eruption of teeth", "late tooth eruption" ], "HP:0006314": [ "delay eruption of teeth", "delayed eruption of teeth", "delay dental development", "delayed dental development", "delay dental eruption", "delayed dental eruption", "delay eruption", "delayed eruption", "delay teeth eruption", "delayed teeth eruption", "delay tooth eruption", "delayed tooth eruption", "eruption , delay", "eruption , delayed", "late eruption of teeth", "late tooth eruption" ], "HP:0006328": [ "delay eruption of teeth", "delayed eruption of teeth", "delay dental development", "delayed dental development", "delay dental eruption", "delayed dental eruption", "delay eruption", "delayed eruption", "delay teeth eruption", "delayed teeth eruption", "delay tooth eruption", "delayed tooth eruption", "eruption , delay", "eruption , delayed", "late eruption of teeth", "late tooth eruption" ], "HP:0000685": [ "hypoplasia of teeth", "decreased size of teeth", "hypoplastic teeth", "underdevelopment of teeth" ], "HP:0000688": [ "hypoplasia of teeth", "decreased size of teeth", "hypoplastic teeth", "underdevelopment of teeth" ], "HP:0006281": [ "hypoplasia of teeth", "decreased size of teeth", "hypoplastic teeth", "underdevelopment of teeth" ], "HP:0006307": [ "hypoplasia of teeth", "decreased size of teeth", "hypoplastic teeth", "underdevelopment of teeth" ], "HP:0000687": [ "widely space teeth", "widely spaced teeth", "generalise dental spacing", "generalised dental spacing", "generalised spacing of teeth", "generalize dental spacing", "generalized dental spacing", "generalize spacing of teeth", "generalized spacing of teeth", "multiple diastema", "multiple diastemata", "wide - space teeth", "wide - spaced teeth", "widely - space teeth", "widely - spaced teeth" ], "HP:0000689": [ "dental malocclusion", "angle class 2 malocclusion", "angle class 3 malocclusion", "bad bite", "bilateral crossbite", "bilateral crossbite malocclusion", "incorrect relation between upper and low dental arch", "incorrect relation between upper and lower dental arches", "malalignment of upper and low dental arch", "malalignment of upper and lower dental arches", "malocclusion", "malocclusion of teeth", "misalignment of upper and low dental arch", "misalignment of upper and lower dental arches", "occlusion anomaly" ], "HP:0000690": [ "agenesis of maxillary lateral incisor", "absence of maxillary lateral incisor", "absence of upper lateral incisor", "absent upper lateral incisor", "absent upper lateral incisors", "failure of development of maxillary lateral incisor", "miss maxillary lateral incisor", "missing maxillary lateral incisor", "miss upper lateral incisor", "missing upper lateral incisor" ], "HP:0000691": [ "microdontia", "decreased size of tooth", "decrease width of tooth", "decreased width of tooth", "hypotrophic tooth", "small teeth", "small tooth", "tooth hypoplasia", "tooth hypotrophy", "underdeveloped tooth" ], "HP:0000692": [ "tooth malposition", "abnormal dental position", "abnormal teeth space", "abnormal teeth spacing", "abnormality of alignment of teeth", "abnormality of position of teeth", "abnormality of teeth space", "abnormality of teeth spacing", "crook teeth", "crooked teeth", "malaligned teeth", "malposition of teeth", "malpositioned teeth", "misalignment of teeth", "teeth , malposition" ], "HP:0000693": [ "tooth malposition", "abnormal dental position", "abnormal teeth space", "abnormal teeth spacing", "abnormality of alignment of teeth", "abnormality of position of teeth", "abnormality of teeth space", "abnormality of teeth spacing", "crook teeth", "crooked teeth", "malaligned teeth", "malposition of teeth", "malpositioned teeth", "misalignment of teeth", "teeth , malposition" ], "HP:0001569": [ "tooth malposition", "abnormal dental position", "abnormal teeth space", "abnormal teeth spacing", "abnormality of alignment of teeth", "abnormality of position of teeth", "abnormality of teeth space", "abnormality of teeth spacing", "crook teeth", "crooked teeth", "malaligned teeth", "malposition of teeth", "malpositioned teeth", "misalignment of teeth", "teeth , malposition" ], "HP:0006303": [ "tooth malposition", "abnormal dental position", "abnormal teeth space", "abnormal teeth spacing", "abnormality of alignment of teeth", "abnormality of position of teeth", "abnormality of teeth space", "abnormality of teeth spacing", "crook teeth", "crooked teeth", "malaligned teeth", "malposition of teeth", "malpositioned teeth", "misalignment of teeth", "teeth , malposition" ], "HP:0006478": [ "tooth malposition", "abnormal dental position", "abnormal teeth space", "abnormal teeth spacing", "abnormality of alignment of teeth", "abnormality of position of teeth", "abnormality of teeth space", "abnormality of teeth spacing", "crook teeth", "crooked teeth", "malaligned teeth", "malposition of teeth", "malpositioned teeth", "misalignment of teeth", "teeth , malposition" ], "HP:0000694": [ "odontodysplasia", "ghost teeth", "shell teeth", "teeth with dentinal dysplasia", "teeth with thin dentin and large pulp chamber", "teeth with thin dentin and large pulp chambers", "teeth with type iii dentinogenesis imperfecta" ], "HP:0000695": [ "natal tooth", "bear with teeth", "born with teeth", "natal teeth", "neonatal teeth", "teeth present at birth" ], "HP:0000696": [ "delay eruption of permanent teeth", "delayed eruption of permanent teeth", "delay eruption of adult teeth", "delayed eruption of adult teeth", "delay eruption of secondary dentition", "delayed eruption of secondary dentition", "delay eruption of secondary teeth", "delayed eruption of secondary teeth", "delay permanent dentition", "delayed permanent dentition" ], "HP:0000698": [ "conical tooth", "cone shape tooth", "cone shaped tooth", "conical teeth", "conoid tooth", "peg shape teeth", "peg shaped teeth", "peg shape tooth", "peg shaped tooth", "peg tooth", "peg - shape teeth", "peg - shaped teeth", "point tooth", "pointed tooth", "shark tooth" ], "HP:0000699": [ "diastema", "dental diastasis", "dental diastema", "diastasis of the teeth", "diastema of the teeth", "gap between teeth", "gaps between teeth" ], "HP:0000700": [ "periapical bone loss", "bone loss around tooth root", "dark spot around tooth root on x - ray", "periapical cyst", "periapical granuloma", "periapical lesion", "periapical radiolucencies", "periapical radiolucency" ], "HP:0000703": [ "dentinogenesis imperfecta" ], "HP:0000704": [ "periodontitis", "gum disease", "periodontal disease", "pyorrhea" ], "HP:0000165": [ "periodontitis", "gum disease", "periodontal disease", "pyorrhea" ], "HP:0006301": [ "periodontitis", "gum disease", "periodontal disease", "pyorrhea" ], "HP:0000705": [ "amelogenesis imperfecta" ], "HP:0006284": [ "amelogenesis imperfecta" ], "HP:0006310": [ "amelogenesis imperfecta" ], "HP:0006325": [ "amelogenesis imperfecta" ], "HP:0006327": [ "amelogenesis imperfecta" ], "HP:0006331": [ "amelogenesis imperfecta" ], "HP:0000706": [ "eruption failure", "failure of eruption of tooth", "pseudo - anodontia", "pseudoanodontia", "unerupted dentition", "unerupted tooth" ], "HP:0000707": [ "abnormality of the nervous system", "brain and / or spinal cord issue", "neurologic abnormality", "neurologic abnormalities", "neurological abnormality" ], "HP:0001333": [ "abnormality of the nervous system", "brain and / or spinal cord issue", "neurologic abnormality", "neurologic abnormalities", "neurological abnormality" ], "HP:0006987": [ "abnormality of the nervous system", "brain and / or spinal cord issue", "neurologic abnormality", "neurologic abnormalities", "neurological abnormality" ], "HP:0000708": [ "behavioral abnormality", "behavioral change", "behavioral changes", "behavioral disorder", "behavioral disorders", "behavioral disturbance", "behavioral disturbances", "behavioral problem", "behavioral problems", "behavioral symptom", "behavioral symptoms", "behavioral / psychiatric abnormality", "behavioral / psychiatric abnormalities", "behavioural abnormality", "behavioural change", "behavioural changes", "behavioural disorder", "behavioural disorders", "behavioural disturbance", "behavioural disturbances", "behavioural problem", "behavioural problems", "behavioural symptom", "behavioural symptoms", "behavioural / psychiatric abnormality", "psychiatric disorder", "psychiatric disorders", "psychiatric disturbance", "psychiatric disturbances" ], "HP:0000715": [ "behavioral abnormality", "behavioral change", "behavioral changes", "behavioral disorder", "behavioral disorders", "behavioral disturbance", "behavioral disturbances", "behavioral problem", "behavioral problems", "behavioral symptom", "behavioral symptoms", "behavioral / psychiatric abnormality", "behavioral / psychiatric abnormalities", "behavioural abnormality", "behavioural change", "behavioural changes", "behavioural disorder", "behavioural disorders", "behavioural disturbance", "behavioural disturbances", "behavioural problem", "behavioural problems", "behavioural symptom", "behavioural symptoms", "behavioural / psychiatric abnormality", "psychiatric disorder", "psychiatric disorders", "psychiatric disturbance", "psychiatric disturbances" ], "HP:0002368": [ "behavioral abnormality", "behavioral change", "behavioral changes", "behavioral disorder", "behavioral disorders", "behavioral disturbance", "behavioral disturbances", "behavioral problem", "behavioral problems", "behavioral symptom", "behavioral symptoms", "behavioral / psychiatric abnormality", "behavioral / psychiatric abnormalities", "behavioural abnormality", "behavioural change", "behavioural changes", "behavioural disorder", "behavioural disorders", "behavioural disturbance", "behavioural disturbances", "behavioural problem", "behavioural problems", "behavioural symptom", "behavioural symptoms", "behavioural / psychiatric abnormality", "psychiatric disorder", "psychiatric disorders", "psychiatric disturbance", "psychiatric disturbances" ], "HP:0002456": [ "behavioral abnormality", "behavioral change", "behavioral changes", "behavioral disorder", "behavioral disorders", "behavioral disturbance", "behavioral disturbances", "behavioral problem", "behavioral problems", "behavioral symptom", "behavioral symptoms", "behavioral / psychiatric abnormality", "behavioral / psychiatric abnormalities", "behavioural abnormality", "behavioural change", "behavioural changes", "behavioural disorder", "behavioural disorders", "behavioural disturbance", "behavioural disturbances", "behavioural problem", "behavioural problems", "behavioural symptom", "behavioural symptoms", "behavioural / psychiatric abnormality", "psychiatric disorder", "psychiatric disorders", "psychiatric disturbance", "psychiatric disturbances" ], "HP:0000709": [ "psychosis" ], "HP:0000710": [ "hyperorality", "hyperoralia" ], "HP:0000711": [ "restlessness" ], "HP:0000712": [ "emotional lability", "emotional instability", "mood alteration", "mood alterations", "mood change", "mood changes", "mood lability", "obsolete mood change", "obsolete mood changes" ], "HP:0001575": [ "emotional lability", "emotional instability", "mood alteration", "mood alterations", "mood change", "mood changes", "mood lability", "obsolete mood change", "obsolete mood changes" ], "HP:0008766": [ "emotional lability", "emotional instability", "mood alteration", "mood alterations", "mood change", "mood changes", "mood lability", "obsolete mood change", "obsolete mood changes" ], "HP:0000713": [ "agitation" ], "HP:0000716": [ "depression", "depressive disorder", "depressivity" ], "HP:0000717": [ "autism" ], "HP:0000718": [ "aggressive behavior", "aggression", "aggressive behaviour", "aggressiveness", "physical aggression" ], "HP:0000719": [ "inappropriate behavior", "inappropriate behaviour" ], "HP:0000720": [ "mood swing", "mood swings" ], "HP:0000721": [ "lack of spontaneous play" ], "HP:0000722": [ "obsessive - compulsive behavior", "obsessive compulsive behavior", "obsessive compulsive behaviour", "obsessive compulsive disorder", "obsessive - compulsive behaviour", "obsessive - compulsive disorder" ], "HP:0000723": [ "restrictive behavior", "restrict behavior", "restricted behavior", "restrict behaviour", "restricted behaviour", "restrictive behavior , interest , and activity", "restrictive behavior , interests , and activities", "restrictive behaviour" ], "HP:0000725": [ "psychotic episode", "psychotic episodes" ], "HP:0000726": [ "dementia", "dementia , progressive", "progressive dementia" ], "HP:0002274": [ "dementia", "dementia , progressive", "progressive dementia" ], "HP:0007122": [ "dementia", "dementia , progressive", "progressive dementia" ], "HP:0007150": [ "dementia", "dementia , progressive", "progressive dementia" ], "HP:0007283": [ "dementia", "dementia , progressive", "progressive dementia" ], "HP:0000727": [ "frontal lobe dementia" ], "HP:0000728": [ "impaired ability to form peer relationship", "impaired ability to form peer relationships" ], "HP:0000729": [ "autistic behavior", "autism spectrum disorder", "autism spectrum disorders", "autistic behaviors", "autistic behaviour", "autistic behaviours", "pervasive developmental disorder" ], "HP:0000732": [ "inflexible adherence to routines or ritual", "inflexible adherence to routines or rituals" ], "HP:0000733": [ "stereotypy", "repetitive movement", "repetitive movements", "repetitive or self - injurious behavior", "repetitive or self - injurious behaviour", "stereotype behavior", "stereotyped behavior", "stereotyped behaviors", "stereotype behaviour", "stereotyped behaviour", "stereotyped behaviours", "stereotype , repetitive behavior", "stereotyped , repetitive behavior", "stereotype , repetitive behaviour", "stereotyped , repetitive behaviour", "stereotypic behavior", "stereotypic behaviors", "stereotypic behaviour", "stereotypic behaviours", "stereotypical motor behavior", "stereotypical motor behaviors", "stereotypical motor behaviour", "stereotypical motor behaviours" ], "HP:0008758": [ "stereotypy", "repetitive movement", "repetitive movements", "repetitive or self - injurious behavior", "repetitive or self - injurious behaviour", "stereotype behavior", "stereotyped behavior", "stereotyped behaviors", "stereotype behaviour", "stereotyped behaviour", "stereotyped behaviours", "stereotype , repetitive behavior", "stereotyped , repetitive behavior", "stereotype , repetitive behaviour", "stereotyped , repetitive behaviour", "stereotypic behavior", "stereotypic behaviors", "stereotypic behaviour", "stereotypic behaviours", "stereotypical motor behavior", "stereotypical motor behaviors", "stereotypical motor behaviour", "stereotypical motor behaviours" ], "HP:0008759": [ "stereotypy", "repetitive movement", "repetitive movements", "repetitive or self - injurious behavior", "repetitive or self - injurious behaviour", "stereotype behavior", "stereotyped behavior", "stereotyped behaviors", "stereotype behaviour", "stereotyped behaviour", "stereotyped behaviours", "stereotype , repetitive behavior", "stereotyped , repetitive behavior", "stereotype , repetitive behaviour", "stereotyped , repetitive behaviour", "stereotypic behavior", "stereotypic behaviors", "stereotypic behaviour", "stereotypic behaviours", "stereotypical motor behavior", "stereotypical motor behaviors", "stereotypical motor behaviour", "stereotypical motor behaviours" ], "HP:0000734": [ "disinhibition" ], "HP:0000735": [ "impaired social interaction", "impaired social interactions", "poor social interaction", "poor social interactions" ], "HP:0000736": [ "short attention span", "easily distract", "easily distracted", "poor attention span", "problem pay attention", "problem paying attention" ], "HP:0000737": [ "irritability", "irritable" ], "HP:0000738": [ "hallucination", "hallucinations", "sensory hallucination" ], "HP:0000739": [ "anxiety", "anxiety disease", "anxiousness", "excessive , persistent worry and fear" ], "HP:0000740": [ "episodic paroxysmal anxiety" ], "HP:0000741": [ "apathy", "lack of feeling , emotion , interest" ], "HP:0000742": [ "self - mutilation", "deliberate self - harm", "self mutilation" ], "HP:0000743": [ "frontal release sign", "frontal release signs", "frontal release reflex", "frontal release reflexes" ], "HP:0006911": [ "frontal release sign", "frontal release signs", "frontal release reflex", "frontal release reflexes" ], "HP:0000744": [ "low frustration tolerance", "intolerance to frustration" ], "HP:0000745": [ "diminish motivation", "diminished motivation", "lack of initiative", "lack of motivation", "lack in initiative", "lacking in initiative", "lack initiative", "lacks initiative" ], "HP:0000746": [ "delusion", "delusions" ], "HP:0000748": [ "inappropriate laughter" ], "HP:0000749": [ "paroxysmal burst of laughter", "paroxysmal bursts of laughter", "paroxysmal laughter" ], "HP:0000750": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0002116": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0002117": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0002336": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0002399": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0002498": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0006936": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0007004": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0007127": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0007170": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0007172": [ "delay speech and language development", "delayed speech and language development", "deficiency of speech development", "delay language development", "delayed language development", "delay speech", "delayed speech", "delay speech acquisition", "delayed speech acquisition", "delay speech development", "delayed speech development", "impaired speech and language development", "impaired speech development", "language delay", "language delayed", "language development deficit", "late - onset speech development", "poor language development", "poor speech acquisition", "poor speech development", "speech and language delay", "speech and language difficulty", "speech and language difficulties", "speech delay", "speech difficulty", "speech difficulties" ], "HP:0000751": [ "personality change", "personality changes" ], "HP:0000752": [ "hyperactivity", "hyperactive behavior", "hyperactive behaviour", "more active than typical" ], "HP:0008764": [ "hyperactivity", "hyperactive behavior", "hyperactive behaviour", "more active than typical" ], "HP:0000753": [ "autism with high cognitive ability", "autism with high cognitive abilities" ], "HP:0000756": [ "agoraphobia", "fear of open space", "fear of open spaces" ], "HP:0000757": [ "lack of insight" ], "HP:0000758": [ "impaired use of nonverbal behavior", "impaired use of nonverbal behaviors", "impaired use of nonverbal behaviour", "impaired use of nonverbal behaviours" ], "HP:0000759": [ "abnormal peripheral nervous system morphology", "abnormal peripheral nervous system structure", "peripheral nervous system disease" ], "HP:0003483": [ "abnormal peripheral nervous system morphology", "abnormal peripheral nervous system structure", "peripheral nervous system disease" ], "HP:0000762": [ "decrease nerve conduction velocity", "decreased nerve conduction velocity", "decrease ncv", "decreased ncv", "decreased nerve conduction velocities", "delay nerve conduction velocity", "delayed nerve conduction velocity", "reduce nerve conduction velocity", "reduced nerve conduction velocities", "slow nerve conduction velocity", "slowed nerve conduction velocities" ], "HP:0000761": [ "decrease nerve conduction velocity", "decreased nerve conduction velocity", "decrease ncv", "decreased ncv", "decreased nerve conduction velocities", "delay nerve conduction velocity", "delayed nerve conduction velocity", "reduce nerve conduction velocity", "reduced nerve conduction velocities", "slow nerve conduction velocity", "slowed nerve conduction velocities" ], "HP:0007118": [ "decrease nerve conduction velocity", "decreased nerve conduction velocity", "decrease ncv", "decreased ncv", "decreased nerve conduction velocities", "delay nerve conduction velocity", "delayed nerve conduction velocity", "reduce nerve conduction velocity", "reduced nerve conduction velocities", "slow nerve conduction velocity", "slowed nerve conduction velocities" ], "HP:0007218": [ "decrease nerve conduction velocity", "decreased nerve conduction velocity", "decrease ncv", "decreased ncv", "decreased nerve conduction velocities", "delay nerve conduction velocity", "delayed nerve conduction velocity", "reduce nerve conduction velocity", "reduced nerve conduction velocities", "slow nerve conduction velocity", "slowed nerve conduction velocities" ], "HP:0007231": [ "decrease nerve conduction velocity", "decreased nerve conduction velocity", "decrease ncv", "decreased ncv", "decreased nerve conduction velocities", "delay nerve conduction velocity", "delayed nerve conduction velocity", "reduce nerve conduction velocity", "reduced nerve conduction velocities", "slow nerve conduction velocity", "slowed nerve conduction velocities" ], "HP:0000763": [ "sensory neuropathy", "damage to nerve that sense feel", "damage to nerves that sense feeling", "peripheral sensory neuropathy" ], "HP:0003410": [ "sensory neuropathy", "damage to nerve that sense feel", "damage to nerves that sense feeling", "peripheral sensory neuropathy" ], "HP:0006815": [ "sensory neuropathy", "damage to nerve that sense feel", "damage to nerves that sense feeling", "peripheral sensory neuropathy" ], "HP:0007043": [ "sensory neuropathy", "damage to nerve that sense feel", "damage to nerves that sense feeling", "peripheral sensory neuropathy" ], "HP:0007142": [ "sensory neuropathy", "damage to nerve that sense feel", "damage to nerves that sense feeling", "peripheral sensory neuropathy" ], "HP:0000764": [ "peripheral axonal degeneration" ], "HP:0006787": [ "peripheral axonal degeneration" ], "HP:0006876": [ "peripheral axonal degeneration" ], "HP:0007304": [ "peripheral axonal degeneration" ], "HP:0000765": [ "abnormal thorax morphology", "abnormality of the chest", "abnormality of the thorax", "structural abnormality of the chest wall" ], "HP:0100655": [ "abnormal thorax morphology", "abnormality of the chest", "abnormality of the thorax", "structural abnormality of the chest wall" ], "HP:0000766": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0000780": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0006586": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0006594": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0006605": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0006630": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0006708": [ "abnormal sternum morphology", "abnormality of the sternum", "pectus carinatum or pectus excavatum", "pectus deformity", "pectus deformities", "pectus excavatum or carinatum", "pectus excavatum or pectus carinatum", "pectus excavatum / carinatum", "sternal anomaly", "sternal anomalies" ], "HP:0000767": [ "pectus excavatum", "funnel chest" ], "HP:0006613": [ "pectus excavatum", "funnel chest" ], "HP:0006617": [ "pectus excavatum", "funnel chest" ], "HP:0000768": [ "pectus carinatum", "pigeon chest" ], "HP:0006639": [ "pectus carinatum", "pigeon chest" ], "HP:0000769": [ "abnormality of the breast" ], "HP:0000771": [ "gynecomastia", "enlarge male breast", "enlarged male breast", "gynaecomastia" ], "HP:0000770": [ "gynecomastia", "enlarge male breast", "enlarged male breast", "gynaecomastia" ], "HP:0000772": [ "abnormality of the rib", "abnormality of the ribs", "rib abnormality", "rib abnormalities", "rib anomaly", "rib anomalies" ], "HP:0006618": [ "abnormality of the rib", "abnormality of the ribs", "rib abnormality", "rib abnormalities", "rib anomaly", "rib anomalies" ], "HP:0000773": [ "short rib", "short ribs", "hypoplastic rib", "hypoplastic ribs", "rib hypoplasia" ], "HP:0000899": [ "short rib", "short ribs", "hypoplastic rib", "hypoplastic ribs", "rib hypoplasia" ], "HP:0000908": [ "short rib", "short ribs", "hypoplastic rib", "hypoplastic ribs", "rib hypoplasia" ], "HP:0009750": [ "short rib", "short ribs", "hypoplastic rib", "hypoplastic ribs", "rib hypoplasia" ], "HP:0000774": [ "narrow chest", "low chest circumference", "narrow shoulder", "narrow shoulders", "narrow thorax", "reduce anterior - posterior chest diameter", "reduced anterior - posterior chest diameter" ], "HP:0000909": [ "narrow chest", "low chest circumference", "narrow shoulder", "narrow shoulders", "narrow thorax", "reduce anterior - posterior chest diameter", "reduced anterior - posterior chest diameter" ], "HP:0005252": [ "narrow chest", "low chest circumference", "narrow shoulder", "narrow shoulders", "narrow thorax", "reduce anterior - posterior chest diameter", "reduced anterior - posterior chest diameter" ], "HP:0006588": [ "narrow chest", "low chest circumference", "narrow shoulder", "narrow shoulders", "narrow thorax", "reduce anterior - posterior chest diameter", "reduced anterior - posterior chest diameter" ], "HP:0000775": [ "abnormality of the diaphragm", "diaphragm issue", "diaphragm issues", "diaphragmatic defect" ], "HP:0005204": [ "abnormality of the diaphragm", "diaphragm issue", "diaphragm issues", "diaphragmatic defect" ], "HP:0000776": [ "congenital diaphragmatic hernia", "diaphragmatic hernia" ], "HP:0006604": [ "congenital diaphragmatic hernia", "diaphragmatic hernia" ], "HP:0000777": [ "abnormality of the thymus" ], "HP:0000778": [ "hypoplasia of the thymus", "small thymus", "thymic hypoplasia", "thymus hypoplasia" ], "HP:0000782": [ "abnormal scapula morphology", "abnormality of the shoulder blade" ], "HP:0000786": [ "primary amenorrhea" ], "HP:0000787": [ "nephrolithiasis", "kidney stone", "kidney stones", "renal calculus", "renal calculi", "renal stone", "renal stones" ], "HP:0000102": [ "nephrolithiasis", "kidney stone", "kidney stones", "renal calculus", "renal calculi", "renal stone", "renal stones" ], "HP:0000789": [ "infertility" ], "HP:0000790": [ "hematuria", "blood in urine", "high urine occult blood" ], "HP:0000791": [ "uric acid nephrolithiasis", "uric acid stone", "uric acid stones", "uric acid urolithiasis" ], "HP:0000793": [ "membranoproliferative glomerulonephritis", "mesangiocapillary glomerulonephritis" ], "HP:0000794": [ "iga deposition in the glomerulus", "iga nephropathy" ], "HP:0000795": [ "abnormality of the urethra", "urethra issue" ], "HP:0000796": [ "urethral obstruction" ], "HP:0000798": [ "oligospermia", "low sperm count" ], "HP:0000799": [ "renal steatosis", "fatty kidney" ], "HP:0000800": [ "cystic renal dysplasia", "bilateral cystic dysplasia", "renal cystic dysplasia", "renal dysplasia , cystic" ], "HP:0008737": [ "cystic renal dysplasia", "bilateral cystic dysplasia", "renal cystic dysplasia", "renal dysplasia , cystic" ], "HP:0000802": [ "impotence", "difficulty get a full erection", "difficulty getting a full erection", "difficulty get an erection", "difficulty getting an erection" ], "HP:0000803": [ "renal cortical cyst", "renal cortical cysts", "cortical cyst", "cortical cysts" ], "HP:0000804": [ "xanthine nephrolithiasis", "urinary xanthine stone", "urinary xanthine stones", "xanthine stone", "xanthine stones" ], "HP:0000805": [ "enuresis" ], "HP:0000807": [ "glandular hypospadias" ], "HP:0000808": [ "penoscrotal hypospadias" ], "HP:0000809": [ "urinary tract atresia" ], "HP:0000811": [ "abnormal external genitalia" ], "HP:0000812": [ "abnormal internal genitalia" ], "HP:0000813": [ "bicornuate uterus", "heart shape uterus", "heart shaped uterus", "heart - shape uterus", "heart - shaped uterus", "uterus bicornis" ], "HP:0008735": [ "bicornuate uterus", "heart shape uterus", "heart shaped uterus", "heart - shape uterus", "heart - shaped uterus", "uterus bicornis" ], "HP:0000815": [ "hypergonadotropic hypogonadism", "hypergonadotrophic hypogonadism", "primary hypogonadism" ], "HP:0008679": [ "hypergonadotropic hypogonadism", "hypergonadotrophic hypogonadism", "primary hypogonadism" ], "HP:0000816": [ "abnormality of krebs cycle metabolism", "abnormality of citric acid cycle", "abnormality of the tricarboxylic cycle" ], "HP:0000817": [ "poor eye contact" ], "HP:0000818": [ "abnormality of the endocrine system", "endocrine system disease" ], "HP:0000819": [ "diabetes mellitus" ], "HP:0004908": [ "diabetes mellitus" ], "HP:0008217": [ "diabetes mellitus" ], "HP:0008234": [ "diabetes mellitus" ], "HP:0008260": [ "diabetes mellitus" ], "HP:0000820": [ "abnormality of the thyroid gland", "thyroid abnormality", "thyroid disease" ], "HP:0000821": [ "hypothyroidism", "low t4", "underactive thyroid" ], "HP:0003222": [ "hypothyroidism", "low t4", "underactive thyroid" ], "HP:0008203": [ "hypothyroidism", "low t4", "underactive thyroid" ], "HP:0000822": [ "hypertension", "arterial hypertension", "high blood pressure", "systemic hypertension" ], "HP:0004949": [ "hypertension", "arterial hypertension", "high blood pressure", "systemic hypertension" ], "HP:0005126": [ "hypertension", "arterial hypertension", "high blood pressure", "systemic hypertension" ], "HP:0000823": [ "delay puberty", "delayed puberty", "delay pubertal development", "delayed pubertal development", "delay pubertal growth", "delayed pubertal growth", "pubertal delay" ], "HP:0008859": [ "delay puberty", "delayed puberty", "delay pubertal development", "delayed pubertal development", "delay pubertal growth", "delayed pubertal growth", "pubertal delay" ], "HP:0010466": [ "delay puberty", "delayed puberty", "delay pubertal development", "delayed pubertal development", "delay pubertal growth", "delayed pubertal growth", "pubertal delay" ], "HP:0010467": [ "delay puberty", "delayed puberty", "delay pubertal development", "delayed pubertal development", "delay pubertal growth", "delayed pubertal growth", "pubertal delay" ], "HP:0000824": [ "decrease response to growth hormone stimulation test", "decreased response to growth hormone stimulation test", "growth hormone deficiency", "somatotropin deficiency" ], "HP:0000861": [ "decrease response to growth hormone stimulation test", "decreased response to growth hormone stimulation test", "growth hormone deficiency", "somatotropin deficiency" ], "HP:0008195": [ "decrease response to growth hormone stimulation test", "decreased response to growth hormone stimulation test", "growth hormone deficiency", "somatotropin deficiency" ], "HP:0008206": [ "decrease response to growth hormone stimulation test", "decreased response to growth hormone stimulation test", "growth hormone deficiency", "somatotropin deficiency" ], "HP:0000825": [ "hyperinsulinemic hypoglycemia", "hyperinsulinaemic hypoglycaemia", "hyperinsulinemia hypoglycemia" ], "HP:0000826": [ "precocious puberty", "early onset of puberty", "early puberty" ], "HP:0000828": [ "abnormality of the parathyroid gland", "parathyroid disease" ], "HP:0000829": [ "hypoparathyroidism", "decrease parathyroid hormone secretion", "decreased parathyroid hormone secretion", "low parathyroid hormone" ], "HP:0000856": [ "hypoparathyroidism", "decrease parathyroid hormone secretion", "decreased parathyroid hormone secretion", "low parathyroid hormone" ], "HP:0008292": [ "hypoparathyroidism", "decrease parathyroid hormone secretion", "decreased parathyroid hormone secretion", "low parathyroid hormone" ], "HP:0000830": [ "anterior hypopituitarism" ], "HP:0000831": [ "insulin - resistant diabetes mellitus", "insulin resistant diabetes", "insulin resistant diabetes mellitus", "insulin - resistant diabetes" ], "HP:0000832": [ "primary hypothyroidism" ], "HP:0000833": [ "obsolete glucose intolerance", "glucose intolerance", "abnormal glucose tolerance" ], "HP:0000834": [ "abnormality of the adrenal gland", "abnormality of the adrenal glands", "adrenal abnormality", "adrenal abnormalities", "adrenal gland disease" ], "HP:0000835": [ "adrenal hypoplasia", "adrenal gland hypoplasia", "hypoplastic adrenal gland", "hypoplastic adrenal glands", "small adrenal gland", "small adrenal glands", "underdeveloped adrenal gland", "underdeveloped adrenal glands" ], "HP:0000836": [ "hyperthyroidism", "overactive thyroid" ], "HP:0008241": [ "hyperthyroidism", "overactive thyroid" ], "HP:0000837": [ "increase circulate gonadotropin level", "increased circulating gonadotropin level", "elevate gonadotropin", "elevated gonadotropins", "elevate serum gonadotropin", "elevated serum gonadotropins", "gonadotropin excess", "obsolete increase circulate gonadotropin level", "obsolete increased circulating gonadotropin level" ], "HP:0030340": [ "increase circulate gonadotropin level", "increased circulating gonadotropin level", "elevate gonadotropin", "elevated gonadotropins", "elevate serum gonadotropin", "elevated serum gonadotropins", "gonadotropin excess", "obsolete increase circulate gonadotropin level", "obsolete increased circulating gonadotropin level" ], "HP:0000839": [ "pituitary dwarfism" ], "HP:0000840": [ "adrenogenital syndrome" ], "HP:0001921": [ "adrenogenital syndrome" ], "HP:0000841": [ "hyperactive renin - angiotensin system", "increase plasma renin activity", "increased plasma renin activity" ], "HP:0000842": [ "hyperinsulinemia", "elevate insulin level", "elevated insulin level" ], "HP:0000843": [ "hyperparathyroidism", "elevate blood parathyroid hormone level", "elevated blood parathyroid hormone level" ], "HP:0000845": [ "elevate circulate growth hormone concentration", "elevated circulating growth hormone concentration", "elevate circulate somatotropin concentration", "elevated circulating somatotropin concentration", "growth hormone excess", "somatotropin excess" ], "HP:0008856": [ "elevate circulate growth hormone concentration", "elevated circulating growth hormone concentration", "elevate circulate somatotropin concentration", "elevated circulating somatotropin concentration", "growth hormone excess", "somatotropin excess" ], "HP:0000846": [ "adrenal insufficiency", "hypoadrenalism" ], "HP:0000865": [ "adrenal insufficiency", "hypoadrenalism" ], "HP:0008218": [ "adrenal insufficiency", "hypoadrenalism" ], "HP:0000847": [ "abnormality of renin - angiotensin system", "abnormality of the renin - aldosterone axis" ], "HP:0003350": [ "abnormality of renin - angiotensin system", "abnormality of the renin - aldosterone axis" ], "HP:0000848": [ "increase circulate renin level", "increased circulating renin level", "elevate blood renin level", "elevated blood renin level", "elevate plasma renin", "elevated plasma renin", "hyperreninemia", "increase plasma renin", "increased plasma renin", "increase serum renin", "increased serum renin" ], "HP:0003615": [ "increase circulate renin level", "increased circulating renin level", "elevate blood renin level", "elevated blood renin level", "elevate plasma renin", "elevated plasma renin", "hyperreninemia", "increase plasma renin", "increased plasma renin", "increase serum renin", "increased serum renin" ], "HP:0000849": [ "adrenocortical abnormality" ], "HP:0000851": [ "congenital hypothyroidism", "hypothyroidism , congenital", "underactive thyroid gland from birth" ], "HP:0000852": [ "pseudohypoparathyroidism" ], "HP:0000853": [ "goiter", "enlarge thyroid gland in neck", "enlarged thyroid gland in neck", "goitre", "thyroid goiter", "thyroid goitre" ], "HP:0000854": [ "thyroid adenoma" ], "HP:0000855": [ "insulin resistance", "body fail to respond to insulin", "body fails to respond to insulin" ], "HP:0000857": [ "neonatal insulin - dependent diabetes mellitus" ], "HP:0000858": [ "irregular menstruation", "irregular menses", "irregular period", "irregular periods", "menstrual irregularity", "menstrual irregularities" ], "HP:0000859": [ "hyperaldosteronism", "elevate plasma aldosterone", "elevated plasma aldosterone", "increase aldosterone", "increased aldosterone", "increase aldosterone production", "increased aldosterone production", "mineralocorticoid excess" ], "HP:0004318": [ "hyperaldosteronism", "elevate plasma aldosterone", "elevated plasma aldosterone", "increase aldosterone", "increased aldosterone", "increase aldosterone production", "increased aldosterone production", "mineralocorticoid excess" ], "HP:0005975": [ "hyperaldosteronism", "elevate plasma aldosterone", "elevated plasma aldosterone", "increase aldosterone", "increased aldosterone", "increase aldosterone production", "increased aldosterone production", "mineralocorticoid excess" ], "HP:0000860": [ "parathyroid hypoplasia", "small parathyroid gland", "small parathyroid glands", "underdeveloped parathyroid gland", "underdeveloped parathyroid glands" ], "HP:0000863": [ "central diabetes insipidus", "neurohypophyseal diabetes insipidus" ], "HP:0008210": [ "central diabetes insipidus", "neurohypophyseal diabetes insipidus" ], "HP:0000864": [ "abnormality of the hypothalamus - pituitary axis" ], "HP:0000838": [ "abnormality of the hypothalamus - pituitary axis" ], "HP:0000844": [ "abnormality of the hypothalamus - pituitary axis" ], "HP:0000866": [ "euthyroid multinodular goiter", "euthyroid multinodular goitre" ], "HP:0000867": [ "secondary hyperparathyroidism" ], "HP:0000868": [ "decrease fertility in female", "decreased fertility in females", "reduce fertility in female", "reduced fertility in females" ], "HP:0000869": [ "secondary amenorrhea", "previous menstrual period stop", "previous menstrual periods stop" ], "HP:0000870": [ "increase circulate prolactin concentration", "increased circulating prolactin concentration", "hyperprolactinaemia", "hyperprolactinemia", "prolactin excess" ], "HP:0000871": [ "panhypopituitarism" ], "HP:0000872": [ "hashimoto thyroiditis", "chronic lymphocytic thyroiditis", "hashimoto 's thyroiditis" ], "HP:0000873": [ "diabetes insipidus" ], "HP:0000875": [ "episodic hypertension", "intermittent high blood pressure" ], "HP:0000876": [ "oligomenorrhea", "light or infrequent menstrual period", "light or infrequent menstrual periods" ], "HP:0000877": [ "insulin - resistant diabetes mellitus at puberty" ], "HP:0000878": [ "11 pair of rib", "11 pairs of ribs" ], "HP:0000879": [ "short sternum", "hypoplastic sternum" ], "HP:0000882": [ "hypoplastic scapula", "hypoplastic scapulae", "scapular hypoplasia", "short scapula", "short scapulae", "small scapula", "small scapulae", "small shoulder blade" ], "HP:0000906": [ "hypoplastic scapula", "hypoplastic scapulae", "scapular hypoplasia", "short scapula", "short scapulae", "small scapula", "small scapulae", "small shoulder blade" ], "HP:0006616": [ "hypoplastic scapula", "hypoplastic scapulae", "scapular hypoplasia", "short scapula", "short scapulae", "small scapula", "small scapulae", "small shoulder blade" ], "HP:0000883": [ "thin rib", "thin ribs", "slender rib", "slender ribs" ], "HP:0000884": [ "prominent sternum", "sternal protrusion" ], "HP:0000885": [ "broad rib", "broad ribs", "wide rib", "wide ribs" ], "HP:0000903": [ "broad rib", "broad ribs", "wide rib", "wide ribs" ], "HP:0000950": [ "broad rib", "broad ribs", "wide rib", "wide ribs" ], "HP:0006667": [ "broad rib", "broad ribs", "wide rib", "wide ribs" ], "HP:0000886": [ "deform rib cage", "deformed rib cage" ], "HP:0000887": [ "cup rib", "cupped ribs", "rib cup", "rib cupping", "rib flaring" ], "HP:0006635": [ "cup rib", "cupped ribs", "rib cup", "rib cupping", "rib flaring" ], "HP:0000888": [ "horizontal rib", "horizontal ribs" ], "HP:0000889": [ "abnormal clavicle morphology", "abnormal clavicle", "abnormal clavicles", "abnormal collarbone", "abnormality of the clavicle" ], "HP:0000890": [ "long clavicle", "long clavicles", "elongate clavicle", "elongated clavicles", "long collarbone" ], "HP:0006592": [ "long clavicle", "long clavicles", "elongate clavicle", "elongated clavicles", "long collarbone" ], "HP:0000891": [ "cervical rib", "cervical ribs" ], "HP:0000892": [ "bifid rib", "bifid ribs", "cleft rib", "cleft ribs", "split rib", "split ribs" ], "HP:0000893": [ "bulging of the costochondral junction" ], "HP:0000894": [ "short clavicle", "short clavicles", "clavicular hypoplasia", "hypoplastic clavicle", "hypoplastic clavicles", "short collarbone", "underdeveloped clavicle", "underdeveloped clavicles" ], "HP:0000898": [ "short clavicle", "short clavicles", "clavicular hypoplasia", "hypoplastic clavicle", "hypoplastic clavicles", "short collarbone", "underdeveloped clavicle", "underdeveloped clavicles" ], "HP:0005698": [ "short clavicle", "short clavicles", "clavicular hypoplasia", "hypoplastic clavicle", "hypoplastic clavicles", "short collarbone", "underdeveloped clavicle", "underdeveloped clavicles" ], "HP:0005902": [ "short clavicle", "short clavicles", "clavicular hypoplasia", "hypoplastic clavicle", "hypoplastic clavicles", "short collarbone", "underdeveloped clavicle", "underdeveloped clavicles" ], "HP:0000895": [ "lateral clavicle hook", "handlebar clavicle", "hook - shaped clavicle", "hook - shape collarbone", "hook - shaped collarbone", "hooked clavicle" ], "HP:0000896": [ "rib exostosis", "rib exostoses" ], "HP:0000897": [ "rachitic rosary" ], "HP:0000900": [ "thicken rib", "thickened ribs" ], "HP:0000902": [ "rib fusion", "fuse rib", "fused ribs" ], "HP:0000880": [ "rib fusion", "fuse rib", "fused ribs" ], "HP:0000904": [ "flaring of rib cage", "anterior flaring of rib", "anterior flaring of ribs" ], "HP:0006656": [ "flaring of rib cage", "anterior flaring of rib", "anterior flaring of ribs" ], "HP:0000905": [ "progressive clavicular acroosteolysis", "progressive acroosteolysis of the clavicle" ], "HP:0000907": [ "anterior rib cup", "anterior rib cupping", "anterior cupping of rib", "anterior cupping of ribs", "anteriorly splay rib", "anteriorly splayed ribs" ], "HP:0006601": [ "anterior rib cup", "anterior rib cupping", "anterior cupping of rib", "anterior cupping of ribs", "anteriorly splay rib", "anteriorly splayed ribs" ], "HP:0000910": [ "wide - cupped costochondral junction", "wide - cupped costochondral junctions" ], "HP:0000911": [ "flat glenoid fossa" ], "HP:0000912": [ "sprengel anomaly", "congenital , upward displacement of the scapula", "high scapula", "high shoulder blade", "sprengel deformity" ], "HP:0006621": [ "sprengel anomaly", "congenital , upward displacement of the scapula", "high scapula", "high shoulder blade", "sprengel deformity" ], "HP:0000913": [ "posterior rib fusion" ], "HP:0000914": [ "shield chest", "broad chest" ], "HP:0000915": [ "pectus excavatum of inferior sternum", "pectus excavatum inferiorly" ], "HP:0000916": [ "broad clavicle", "broad clavicles", "broad collarbone" ], "HP:0006651": [ "broad clavicle", "broad clavicles", "broad collarbone" ], "HP:0000917": [ "superior pectus carinatum", "pectus carinatum superiorly" ], "HP:0000918": [ "scapular exostosis", "scapular exostoses", "scapula exostosis", "scapulae exostoses", "shoulder bone exostoes" ], "HP:0000919": [ "abnormality of the costochondral junction", "costochondral juctions abnormal" ], "HP:0000920": [ "enlargement of the costochondral junction", "costochondral thickening", "enlarged costochondral junction", "enlarged costochondral junctions", "prominent costochondral junction", "wide costochondral junction", "wide costochondral junctions", "widen costochondral junction", "widened costochondral junction" ], "HP:0006620": [ "enlargement of the costochondral junction", "costochondral thickening", "enlarged costochondral junction", "enlarged costochondral junctions", "prominent costochondral junction", "wide costochondral junction", "wide costochondral junctions", "widen costochondral junction", "widened costochondral junction" ], "HP:0000921": [ "miss rib", "missing ribs", "absent rib", "absent ribs", "decrease rib number", "decreased rib number" ], "HP:0000881": [ "miss rib", "missing ribs", "absent rib", "absent ribs", "decrease rib number", "decreased rib number" ], "HP:0006627": [ "miss rib", "missing ribs", "absent rib", "absent ribs", "decrease rib number", "decreased rib number" ], "HP:0000922": [ "posterior rib cup", "posterior rib cupping", "anterior and posterior rib cup", "anterior and posterior rib cupping" ], "HP:0006622": [ "posterior rib cup", "posterior rib cupping", "anterior and posterior rib cup", "anterior and posterior rib cupping" ], "HP:0000923": [ "bead rib", "beaded ribs" ], "HP:0000924": [ "abnormality of the skeletal system", "skeletal abnormality", "skeletal abnormalities", "skeletal anomaly", "skeletal anomalies" ], "HP:0000925": [ "abnormality of the vertebral column", "abnormal spine", "abnormal vertebral column", "abnormality of the backbone", "abnormality of the spine" ], "HP:0000926": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0002940": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0003421": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0004595": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0004623": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0004627": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0005123": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0005644": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0008466": [ "platyspondyly", "flat vertebral body", "flat vertebral bodies", "flatten vertebra", "flattened vertebrae", "flatten vertebral body", "flattened vertebral bodies", "obsolete platyspondyly ( childhood )" ], "HP:0000927": [ "abnormality of skeletal maturation" ], "HP:0000929": [ "abnormal skull morphology", "abnormality of the skull", "abnormality of the skull bone", "abnormality of the skull bones" ], "HP:0000930": [ "elevate imprint of the transverse sinus", "elevated imprint of the transverse sinuses", "elevate imprint of occipital bone over the transverse sinus", "elevated imprint of occipital bone over the transverse sinuses", "elevate imprint of posterior skull bone over the transverse sinus", "elevated imprint of posterior skull bones over the transverse sinuses", "thinning and bulging of occipital bone over the transverse sinus", "thinning and bulging of occipital bone over the transverse sinuses", "thinning and bulging of posterior skull bone over the transverse sinus", "thinning and bulging of posterior skull bones over the transverse sinuses" ], "HP:0000931": [ "thinning and bulging of the posterior fossa bone", "thinning and bulging of the posterior fossa bones", "thinning and bulging of occipital bone of skull", "thinning and bulging of posterior fossa bone", "thinning and bulging of posterior fossa bones", "thinning and bulging of posterior skull bone", "thinning and bulging of posterior skull bones" ], "HP:0000932": [ "abnormal posterior cranial fossa morphology", "abnormality of the posterior cranial fossa", "abnormality of the posterior fossa", "posterior fossa anomaly" ], "HP:0007306": [ "abnormal posterior cranial fossa morphology", "abnormality of the posterior cranial fossa", "abnormality of the posterior fossa", "posterior fossa anomaly" ], "HP:0000933": [ "posterior fossa cyst at the fourth ventricle" ], "HP:0000934": [ "chondrocalcinosis", "calcium deposit in joint", "calcium deposits in joints" ], "HP:0000935": [ "thicken cortex of long bone", "thickened cortex of long bones", "broad cortex of long bone", "broad cortex of long bones", "cortical thickening of the long bone", "cortical thickening of the long bones", "thickened cortex of long bone", "thickened cortices of long bones" ], "HP:0000938": [ "osteopenia", "generalise osteopenia", "generalised osteopenia", "generalize osteopenia", "generalized osteopenia", "osteopaenia" ], "HP:0002768": [ "osteopenia", "generalise osteopenia", "generalised osteopenia", "generalize osteopenia", "generalized osteopenia", "osteopaenia" ], "HP:0002799": [ "osteopenia", "generalise osteopenia", "generalised osteopenia", "generalize osteopenia", "generalized osteopenia", "osteopaenia" ], "HP:0002800": [ "osteopenia", "generalise osteopenia", "generalised osteopenia", "generalize osteopenia", "generalized osteopenia", "osteopaenia" ], "HP:0000939": [ "osteoporosis" ], "HP:0002774": [ "osteoporosis" ], "HP:0000940": [ "abnormal diaphysis morphology", "abnormal shape of shaft of long bone", "abnormality involve the diaphysis of the limb", "abnormality involving the diaphyses of the limbs", "abnormality of shaft of long bone of the limb", "abnormality of shaft of long bone of the limbs", "abnormality of the diaphysis", "abnormality of the diaphyses", "anomaly of the limb diaphysis", "anomaly of the limb diaphyses", "anomaly of the limb diaphyses morphology", "obsolete anomaly of the limb diaphyses morphology" ], "HP:0006504": [ "abnormal diaphysis morphology", "abnormal shape of shaft of long bone", "abnormality involve the diaphysis of the limb", "abnormality involving the diaphyses of the limbs", "abnormality of shaft of long bone of the limb", "abnormality of shaft of long bone of the limbs", "abnormality of the diaphysis", "abnormality of the diaphyses", "anomaly of the limb diaphysis", "anomaly of the limb diaphyses", "anomaly of the limb diaphyses morphology", "obsolete anomaly of the limb diaphyses morphology" ], "HP:0000941": [ "short diaphysis", "short diaphyses", "short shaft of long bone" ], "HP:0000943": [ "dysostosis multiplex" ], "HP:0002760": [ "dysostosis multiplex" ], "HP:0000944": [ "abnormality of the metaphysis", "abnormality of the wide portion of a long bone" ], "HP:0006506": [ "abnormality of the metaphysis", "abnormality of the wide portion of a long bone" ], "HP:0000946": [ "hypoplastic ilium", "hypoplastic ilia", "short and small iliac bone", "short and small iliac bones", "small iliac bone", "small iliac bones", "small wing of the pelvic girdle", "small wings of the pelvic girdle" ], "HP:0003176": [ "hypoplastic ilium", "hypoplastic ilia", "short and small iliac bone", "short and small iliac bones", "small iliac bone", "small iliac bones", "small wing of the pelvic girdle", "small wings of the pelvic girdle" ], "HP:0003178": [ "hypoplastic ilium", "hypoplastic ilia", "short and small iliac bone", "short and small iliac bones", "small iliac bone", "small iliac bones", "small wing of the pelvic girdle", "small wings of the pelvic girdle" ], "HP:0000947": [ "dumbbell - shape long bone", "dumbbell - shaped long bone", "dumbbell widening of long bone metaphyses" ], "HP:0005061": [ "dumbbell - shape long bone", "dumbbell - shaped long bone", "dumbbell widening of long bone metaphyses" ], "HP:0005071": [ "dumbbell - shape long bone", "dumbbell - shaped long bone", "dumbbell widening of long bone metaphyses" ], "HP:0005075": [ "dumbbell - shape long bone", "dumbbell - shaped long bone", "dumbbell widening of long bone metaphyses" ], "HP:0000951": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0001478": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0001479": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0005591": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0006736": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0007415": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0007580": [ "abnormality of the skin", "dermatopathy", "dermopathy", "skin abnormality" ], "HP:0000952": [ "jaundice", "icterus", "yellow skin", "yellowing of the skin" ], "HP:0000953": [ "hyperpigmentation of the skin", "cutaneous hyperpigmentation", "hyperpigmented lesion", "increase skin pigmentation", "increased skin pigmentation", "melanoderma", "melanodermia", "patchy darken skin", "patchy darkened skin", "skin hyperpigmentation" ], "HP:0007527": [ "hyperpigmentation of the skin", "cutaneous hyperpigmentation", "hyperpigmented lesion", "increase skin pigmentation", "increased skin pigmentation", "melanoderma", "melanodermia", "patchy darken skin", "patchy darkened skin", "skin hyperpigmentation" ], "HP:0000954": [ "single transverse palmar crease", "simian crease", "simian creases", "simian line", "single flexion crease", "single palmar crease", "single palmar creases", "single transverse palmar creases", "transverse palmar crease" ], "HP:0006214": [ "single transverse palmar crease", "simian crease", "simian creases", "simian line", "single flexion crease", "single palmar crease", "single palmar creases", "single transverse palmar creases", "transverse palmar crease" ], "HP:0000956": [ "acanthosis nigricans", "darken and thicken skin", "darkened and thickened skin", "keratosis nigricans" ], "HP:0007498": [ "acanthosis nigricans", "darken and thicken skin", "darkened and thickened skin", "keratosis nigricans" ], "HP:0007518": [ "acanthosis nigricans", "darken and thicken skin", "darkened and thickened skin", "keratosis nigricans" ], "HP:0007591": [ "acanthosis nigricans", "darken and thicken skin", "darkened and thickened skin", "keratosis nigricans" ], "HP:0000957": [ "cafe - au - lait spot", "birthmark", "cafe au lait spot", "cafe au lait spots", "cafe - au - lait macule", "cafe - au - lait macules", "cafe - au - lait spots", "flat light - brown mark on skin" ], "HP:0005601": [ "cafe - au - lait spot", "birthmark", "cafe au lait spot", "cafe au lait spots", "cafe - au - lait macule", "cafe - au - lait macules", "cafe - au - lait spots", "flat light - brown mark on skin" ], "HP:0007454": [ "cafe - au - lait spot", "birthmark", "cafe au lait spot", "cafe au lait spots", "cafe - au - lait macule", "cafe - au - lait macules", "cafe - au - lait spots", "flat light - brown mark on skin" ], "HP:0000958": [ "dry skin", "xerosis" ], "HP:0000960": [ "sacral dimple", "pilonidal dimple", "spinal dimple" ], "HP:0000961": [ "cyanosis", "blue discoloration of the skin" ], "HP:0000962": [ "hyperkeratosis" ], "HP:0007523": [ "hyperkeratosis" ], "HP:0000963": [ "thin skin" ], "HP:0001020": [ "thin skin" ], "HP:0000964": [ "eczema" ], "HP:0001481": [ "eczema" ], "HP:0000965": [ "cutis marmorata" ], "HP:0001037": [ "cutis marmorata" ], "HP:0000966": [ "hypohidrosis", "decrease ability to sweat", "decreased ability to sweat", "decrease sweating", "decreased sweating", "inadequate sweating", "oligohidrosis", "sweating , decrease", "sweating , decreased" ], "HP:0007551": [ "hypohidrosis", "decrease ability to sweat", "decreased ability to sweat", "decrease sweating", "decreased sweating", "inadequate sweating", "oligohidrosis", "sweating , decrease", "sweating , decreased" ], "HP:0007571": [ "hypohidrosis", "decrease ability to sweat", "decreased ability to sweat", "decrease sweating", "decreased sweating", "inadequate sweating", "oligohidrosis", "sweating , decrease", "sweating , decreased" ], "HP:0000967": [ "petechia", "petechiae" ], "HP:0000968": [ "ectodermal dysplasia" ], "HP:0007615": [ "ectodermal dysplasia" ], "HP:0000969": [ "edema", "dropsy", "fluid retention", "hydrops", "oedema", "water retention" ], "HP:0000990": [ "edema", "dropsy", "fluid retention", "hydrops", "oedema", "water retention" ], "HP:0000970": [ "anhidrosis", "anhydrosis", "lack of sweat", "lack of sweating", "sudomotor dysfunction", "sweat dysfunction", "sweating dysfunction" ], "HP:0000971": [ "abnormal sweat gland morphology", "abnormality of sweat", "abnormalities of sweating", "abnormality of the sweat gland", "sweat gland disease" ], "HP:0000972": [ "palmoplantar hyperkeratosis", "hyperkeratosis of palm and sol", "hyperkeratosis of palms and soles", "hyperkeratosis of the palm and sol", "hyperkeratosis of the palms and soles", "palmoplantar keratoses", "palmoplantar keratosis", "thick palm and sol", "thick palms and soles", "thicken palm and sol", "thickened palms and soles", "thickening of the outer layer of the skin of the palm and sol", "thickening of the outer layer of the skin of the palms and soles" ], "HP:0000973": [ "cutis laxa", "chalazoderma", "cutaneous laxity", "dermatochalasia", "dermatomegaly", "elastolysis", "generalise elastolysis", "generalised elastolysis", "generalize elastolysis", "generalized elastolysis", "hang skin", "hanging skin", "hypoelastic skin", "inelastic skin", "lax skin", "loose and inelastic skin", "loose skin", "skin laxity" ], "HP:0000974": [ "hyperextensible skin", "hyperelastic skin", "skin hyperelasticity", "skin hyperextensibility", "stretchable skin" ], "HP:0007389": [ "hyperextensible skin", "hyperelastic skin", "skin hyperelasticity", "skin hyperextensibility", "stretchable skin" ], "HP:0007493": [ "hyperextensible skin", "hyperelastic skin", "skin hyperelasticity", "skin hyperextensibility", "stretchable skin" ], "HP:0007578": [ "hyperextensible skin", "hyperelastic skin", "skin hyperelasticity", "skin hyperextensibility", "stretchable skin" ], "HP:0000975": [ "hyperhidrosis", "diaphoresis", "excessive sweating", "increase sweating", "increased sweating", "profuse sweat", "profuse sweating", "sweat", "sweating", "sweat profusely", "sweating profusely", "sweating , increase", "sweating , increased", "obsolete diaphoresis ( with pheochromocytoma )" ], "HP:0001011": [ "hyperhidrosis", "diaphoresis", "excessive sweating", "increase sweating", "increased sweating", "profuse sweat", "profuse sweating", "sweat", "sweating", "sweat profusely", "sweating profusely", "sweating , increase", "sweating , increased", "obsolete diaphoresis ( with pheochromocytoma )" ], "HP:0001064": [ "hyperhidrosis", "diaphoresis", "excessive sweating", "increase sweating", "increased sweating", "profuse sweat", "profuse sweating", "sweat", "sweating", "sweat profusely", "sweating profusely", "sweating , increase", "sweating , increased", "obsolete diaphoresis ( with pheochromocytoma )" ], "HP:0007424": [ "hyperhidrosis", "diaphoresis", "excessive sweating", "increase sweating", "increased sweating", "profuse sweat", "profuse sweating", "sweat", "sweating", "sweat profusely", "sweating profusely", "sweating , increase", "sweating , increased", "obsolete diaphoresis ( with pheochromocytoma )" ], "HP:0000976": [ "eczematoid dermatitis" ], "HP:0000977": [ "soft skin", "velvety skin", "velvety skin texture" ], "HP:0000978": [ "bruise susceptibility", "bruising susceptibility", "bruisability", "bruise easily", "easy bruisability", "easy bruising" ], "HP:0000959": [ "bruise susceptibility", "bruising susceptibility", "bruisability", "bruise easily", "easy bruisability", "easy bruising" ], "HP:0007433": [ "bruise susceptibility", "bruising susceptibility", "bruisability", "bruise easily", "easy bruisability", "easy bruising" ], "HP:0007472": [ "bruise susceptibility", "bruising susceptibility", "bruisability", "bruise easily", "easy bruisability", "easy bruising" ], "HP:0000979": [ "purpura", "blood spot", "blood spots", "red or purple spot on the skin", "red or purple spots on the skin" ], "HP:0000980": [ "pallor", "paleness", "skin paleness" ], "HP:0000982": [ "palmoplantar keratoderma", "palmar and plantar keratoderma", "thickening of palm and sol", "thickening of palms and soles" ], "HP:0000987": [ "atypical scarring of skin", "atypical scarring" ], "HP:0000988": [ "skin rash", "rash" ], "HP:0000989": [ "pruritus", "itch", "itching", "itchy skin", "pruritis", "skin itching" ], "HP:0000991": [ "xanthomatosis", "xanthomata", "yellow bump of fatty deposit on skin", "yellow bumps of fatty deposits on skin" ], "HP:0000992": [ "cutaneous photosensitivity", "photosensitive skin", "photosensitive skin rash", "photosensitive skin rashes", "photosensitivity", "sensitivity to sunlight", "skin photosensitivity", "sun sensitivity" ], "HP:0005594": [ "cutaneous photosensitivity", "photosensitive skin", "photosensitive skin rash", "photosensitive skin rashes", "photosensitivity", "sensitivity to sunlight", "skin photosensitivity", "sun sensitivity" ], "HP:0006831": [ "cutaneous photosensitivity", "photosensitive skin", "photosensitive skin rash", "photosensitive skin rashes", "photosensitivity", "sensitivity to sunlight", "skin photosensitivity", "sun sensitivity" ], "HP:0007538": [ "cutaneous photosensitivity", "photosensitive skin", "photosensitive skin rash", "photosensitive skin rashes", "photosensitivity", "sensitivity to sunlight", "skin photosensitivity", "sun sensitivity" ], "HP:0000993": [ "molluscoid pseudotumors", "molluscoid pseudotumor" ], "HP:0000995": [ "melanocytic nevus", "beauty mark", "melanocytic naevus", "melanocytic nevi", "nevocellular nevus", "nevocellular nevi", "noncancerous mole", "pigment naevi", "pigmented naevi", "pigment nevus", "pigmented nevi" ], "HP:0000996": [ "facial capillary hemangioma" ], "HP:0000997": [ "axillary freckling" ], "HP:0000998": [ "hypertrichosis", "excessive hair growth", "increase hair growth on body", "increased hair growth on body" ], "HP:0000999": [ "pyoderma", "pu - fill lesion", "pus - filled lesion" ], "HP:0001000": [ "abnormality of skin pigmentation", "abnormal pigmentation", "abnormal skin color", "abnormal skin colour", "abnormal skin pigmentation", "abnormality of pigmentation", "pigmentary change", "pigmentary changes", "pigmentary skin change", "pigmentary skin changes", "pigmentation anomaly" ], "HP:0007582": [ "abnormality of skin pigmentation", "abnormal pigmentation", "abnormal skin color", "abnormal skin colour", "abnormal skin pigmentation", "abnormality of pigmentation", "pigmentary change", "pigmentary changes", "pigmentary skin change", "pigmentary skin changes", "pigmentation anomaly" ], "HP:0200045": [ "abnormality of skin pigmentation", "abnormal pigmentation", "abnormal skin color", "abnormal skin colour", "abnormal skin pigmentation", "abnormality of pigmentation", "pigmentary change", "pigmentary changes", "pigmentary skin change", "pigmentary skin changes", "pigmentation anomaly" ], "HP:0001001": [ "abnormality of subcutaneous fat tissue", "abnormality of fatty tissue below the skin" ], "HP:0001002": [ "obsolete decrease subcutaneous fat", "obsolete decreased subcutaneous fat", "reduce subcutaneous adipose tissue", "reduced subcutaneous adipose tissue", "decrease subcutaneous adipose tissue", "decreased subcutaneous adipose tissue", "decrease subcutaneous fat", "decreased subcutaneous fat", "reduce fat tissue below the skin", "reduced fat tissue below the skin", "reduce subcutaneous fat", "reduced subcutaneous fat", "scanty adipose tissue" ], "HP:0001003": [ "multiple lentigo", "multiple lentigines", "liver spot", "liver spots" ], "HP:0001004": [ "lymphedema", "lymphatic obstruction", "lymphoedema", "onset of lymphedema around puberty", "swell cause by excess lymph fluid under skin", "swelling caused by excess lymph fluid under skin" ], "HP:0003605": [ "lymphedema", "lymphatic obstruction", "lymphoedema", "onset of lymphedema around puberty", "swell cause by excess lymph fluid under skin", "swelling caused by excess lymph fluid under skin" ], "HP:0001005": [ "dermatological manifestation of systemic disorder", "dermatological manifestations of systemic disorders" ], "HP:0001006": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0001007": [ "hirsutism", "excessive hairiness" ], "HP:0001008": [ "accumulation of melanosomes in melanocyte", "accumulation of melanosomes in melanocytes" ], "HP:0001009": [ "telangiectasia", "cutaneous telangiectasia", "spider vein", "spider veins", "telangiectases" ], "HP:0001079": [ "telangiectasia", "cutaneous telangiectasia", "spider vein", "spider veins", "telangiectases" ], "HP:0001010": [ "hypopigmentation of the skin", "hypopigmentation", "hypopigmented skin", "patchy lighten skin", "patchy lightened skin", "skin hypopigmentation" ], "HP:0005589": [ "hypopigmentation of the skin", "hypopigmentation", "hypopigmented skin", "patchy lighten skin", "patchy lightened skin", "skin hypopigmentation" ], "HP:0007604": [ "hypopigmentation of the skin", "hypopigmentation", "hypopigmented skin", "patchy lighten skin", "patchy lightened skin", "skin hypopigmentation" ], "HP:0007622": [ "hypopigmentation of the skin", "hypopigmentation", "hypopigmented skin", "patchy lighten skin", "patchy lightened skin", "skin hypopigmentation" ], "HP:0001012": [ "multiple lipoma", "multiple lipomas", "lipoma", "lipomas", "lipomatosis", "multiple fatty lump", "multiple fatty lumps" ], "HP:0001013": [ "eruptive xanthoma", "eruptive xanthomas" ], "HP:0001014": [ "angiokeratoma", "angiokeratomas" ], "HP:0001015": [ "prominent superficial vein", "prominent superficial veins", "prominent vein", "prominent veins" ], "HP:0001017": [ "anemic pallor", "anaemic pallor" ], "HP:0001018": [ "abnormal palmar dermatoglyphic", "abnormal palmar dermatoglyphics" ], "HP:0001019": [ "erythroderma", "exfoliative dermititis", "generalise erythroderma", "generalised erythroderma", "generalise erythrodermia", "generalised erythrodermia", "generalize erythroderma", "generalized erythroderma", "generalize erythrodermia", "generalized erythrodermia", "red scaly skin cause by inflammatory skin disease", "red scaly skin caused by inflammatory skin disease" ], "HP:0001022": [ "albinism", "achromasia" ], "HP:0001024": [ "skin dimple over apex of long bone angulation" ], "HP:0001025": [ "urticaria", "hive", "hives" ], "HP:0001026": [ "penetrate foot ulcer", "penetrating foot ulcers" ], "HP:0001027": [ "soft , doughy skin" ], "HP:0001028": [ "hemangioma", "hemangiomata", "strawberry mark" ], "HP:0007444": [ "hemangioma", "hemangiomata", "strawberry mark" ], "HP:0001029": [ "poikiloderma" ], "HP:0001030": [ "fragile skin", "skin fragility" ], "HP:0001031": [ "subcutaneous lipoma" ], "HP:0001032": [ "absent distal interphalangeal crease", "absent distal interphalangeal creases", "absence of skin crease over distal interphalangeal joint", "absence of skin creases over distal interphalangeal joints", "aplasia of the distal interphalangeal crease", "aplasia of the distal interphalangeal creases", "distal finger flexion crease absent", "distal finger flexion creases absent" ], "HP:0001033": [ "facial flushing after alcohol intake" ], "HP:0001034": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0007442": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0007491": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0007492": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0100815": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0200031": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0200033": [ "hypermelanotic macule", "hyperpigmented macule", "hyperpigmented macules", "hyperpigmented skin patch", "hyperpigmented skin patches", "hyperpigmented spot", "hyperpigmented spots" ], "HP:0001036": [ "parakeratosis" ], "HP:0001038": [ "warfarin - induced skin necrosis" ], "HP:0001039": [ "atheroeruptive xanthoma" ], "HP:0001040": [ "multiple pterygium", "multiple pterygia" ], "HP:0001041": [ "facial erythema", "blush cheek", "blushed cheeks", "blushing", "red face", "red in the face", "rosacea", "ruddy face" ], "HP:0001068": [ "facial erythema", "blush cheek", "blushed cheeks", "blushing", "red face", "red in the face", "rosacea", "ruddy face" ], "HP:0001042": [ "high axial triradius" ], "HP:0001043": [ "prominent scalp vein", "prominent scalp veins" ], "HP:0001045": [ "vitiligo", "blotchy loss of skin color", "blotchy loss of skin colour" ], "HP:0001046": [ "intermittent jaundice", "intermittent icterus", "intermittent yellow skin", "intermittent yellowing of skin" ], "HP:0001047": [ "atopic dermatitis", "atopic dermatitis , chronic", "baby eczema", "dermatitis , atopic" ], "HP:0007533": [ "atopic dermatitis", "atopic dermatitis , chronic", "baby eczema", "dermatitis , atopic" ], "HP:0007564": [ "atopic dermatitis", "atopic dermatitis , chronic", "baby eczema", "dermatitis , atopic" ], "HP:0001048": [ "cavernous hemangioma", "cavernous angioma", "cavernous haemangioma", "collection of dilated blood vessel that form mass", "collection of dilated blood vessels that forms mass" ], "HP:0001049": [ "absent dorsal skin crease over affected joint", "absent dorsal skin creases over affected joints" ], "HP:0001050": [ "plethora" ], "HP:0001051": [ "seborrheic dermatitis", "dysseborrheic dermatitis", "seborrhea", "seborrheic eczema" ], "HP:0007562": [ "seborrheic dermatitis", "dysseborrheic dermatitis", "seborrhea", "seborrheic eczema" ], "HP:0001052": [ "nevus flammeus", "nevus simplex", "port - wine stain" ], "HP:0001053": [ "hypopigmented skin patch", "hypopigmented skin patches", "patchy loss of skin color", "patchy loss of skin colour" ], "HP:0001054": [ "numerous nevus", "numerous nevi", "multiple pigment nevus", "multiple pigmented nevi", "numerous mole", "numerous moles" ], "HP:0001055": [ "erysipelas", "st. anthony 's fire" ], "HP:0001056": [ "milium", "milia", "milk spot", "millium cyst" ], "HP:0001057": [ "aplasia cutis congenita", "absence of part of skin at birth", "congenital absence of skin", "congenital scar", "congenital scars", "cutis aplasia" ], "HP:0001058": [ "poor wind heal", "poor wound healing" ], "HP:0001059": [ "pterygium", "pterygia", "surfer 's eye" ], "HP:0001060": [ "axillary pterygium", "axillary pterygia" ], "HP:0001061": [ "acne", "break out", "breaking out" ], "HP:0005596": [ "acne", "break out", "breaking out" ], "HP:0001062": [ "atypical nevus", "atypical mole", "dysplastic nevus" ], "HP:0001063": [ "acrocyanosis", "persistent blue color of hand or foot", "persistent blue color of hands or feet", "persistent blue colour of hand or foot", "persistent blue colour of hands or feet" ], "HP:0001065": [ "stria distensae", "striae distensae", "purplish stria", "purplish striae", "stretch mark", "stretch marks", "stria", "striae", "stria atrophicae", "striae atrophicae", "stria cutis distensae", "striae cutis distensae" ], "HP:0001023": [ "stria distensae", "striae distensae", "purplish stria", "purplish striae", "stretch mark", "stretch marks", "stria", "striae", "stria atrophicae", "striae atrophicae", "stria cutis distensae", "striae cutis distensae" ], "HP:0001066": [ "stria distensae", "striae distensae", "purplish stria", "purplish striae", "stretch mark", "stretch marks", "stria", "striae", "stria atrophicae", "striae atrophicae", "stria cutis distensae", "striae cutis distensae" ], "HP:0100680": [ "stria distensae", "striae distensae", "purplish stria", "purplish striae", "stretch mark", "stretch marks", "stria", "striae", "stria atrophicae", "striae atrophicae", "stria cutis distensae", "striae cutis distensae" ], "HP:0001067": [ "neurofibroma", "neurofibromas", "multiple neurofibroma", "multiple neurofibromas", "neurofibromata", "neurofibromatosis" ], "HP:0006746": [ "neurofibroma", "neurofibromas", "multiple neurofibroma", "multiple neurofibromas", "neurofibromata", "neurofibromatosis" ], "HP:0007386": [ "neurofibroma", "neurofibromas", "multiple neurofibroma", "multiple neurofibromas", "neurofibromata", "neurofibromatosis" ], "HP:0007612": [ "neurofibroma", "neurofibromas", "multiple neurofibroma", "multiple neurofibromas", "neurofibromata", "neurofibromatosis" ], "HP:0001069": [ "episodic hyperhidrosis", "hyperhidrosis , episodic", "sporadic excessive sweating" ], "HP:0001070": [ "mottle pigmentation", "mottled pigmentation", "mottle skin color", "mottled skin coloring", "mottle skin colour", "mottled skin colouring", "stipple pigmentation", "stippled pigmentation" ], "HP:0007584": [ "mottle pigmentation", "mottled pigmentation", "mottle skin color", "mottled skin coloring", "mottle skin colour", "mottled skin colouring", "stipple pigmentation", "stippled pigmentation" ], "HP:0001071": [ "angiokeratoma corporis diffusum", "fabry syndrome" ], "HP:0001072": [ "thicken skin", "thickened skin", "diffusely thicken skin", "diffusely thickened skin", "pachydermia", "thick skin" ], "HP:0007393": [ "thicken skin", "thickened skin", "diffusely thicken skin", "diffusely thickened skin", "pachydermia", "thick skin" ], "HP:0001073": [ "cigarette - paper scar", "cigarette - paper scars", "'cigarette paper scarring '", "cigarette paper scar", "cigarette paper scarring" ], "HP:0001074": [ "atypical nevus in non - sun expose area", "atypical nevi in non - sun exposed areas" ], "HP:0001075": [ "atrophic scar", "atrophic scars", "sunken or indent skin due to damage", "sunken or indented skin due to damage", "thin , atrophic scar", "thin , atrophic scars" ], "HP:0007567": [ "atrophic scar", "atrophic scars", "sunken or indent skin due to damage", "sunken or indented skin due to damage", "thin , atrophic scar", "thin , atrophic scars" ], "HP:0001076": [ "glabellar hemangioma", "glabellar capillary hemangioma" ], "HP:0001080": [ "biliary tract abnormality", "biliary tract disease" ], "HP:0001081": [ "cholelithiasis", "gallstone", "gallstones" ], "HP:0001082": [ "cholecystitis", "gallbladder inflammation" ], "HP:0001083": [ "ectopia lentis", "abnormality of lens position", "lens dislocation" ], "HP:0000665": [ "ectopia lentis", "abnormality of lens position", "lens dislocation" ], "HP:0007637": [ "ectopia lentis", "abnormality of lens position", "lens dislocation" ], "HP:0007882": [ "ectopia lentis", "abnormality of lens position", "lens dislocation" ], "HP:0008016": [ "ectopia lentis", "abnormality of lens position", "lens dislocation" ], "HP:0001084": [ "corneal arcus", "anterior embryotoxon", "arcus juvenilis", "arcus lipoidis", "arcus senilis", "corneal annulus", "gerontoxon" ], "HP:0100741": [ "corneal arcus", "anterior embryotoxon", "arcus juvenilis", "arcus lipoidis", "arcus senilis", "corneal annulus", "gerontoxon" ], "HP:0001085": [ "papilledema" ], "HP:0001130": [ "papilledema" ], "HP:0001087": [ "developmental glaucoma", "childhood glaucoma", "infantile glaucoma", "paediatric glaucoma", "pediatric glaucoma" ], "HP:0001088": [ "brushfield spot", "brushfield spots", "iris brushfield spot", "iris brushfield spots", "speckle iris", "speckled iris" ], "HP:0001089": [ "iris atrophy", "iris degeneration" ], "HP:0001090": [ "abnormally large globe", "increase size of eye", "increased size of eyes", "increase size of palpebral fissure", "increased size of palpebral fissures", "large eyeball", "large eyeballs", "large eye", "large eyes", "large of palpebral fissure", "large of palpebral fissures", "megalophthalmos" ], "HP:0200093": [ "abnormally large globe", "increase size of eye", "increased size of eyes", "increase size of palpebral fissure", "increased size of palpebral fissures", "large eyeball", "large eyeballs", "large eye", "large eyes", "large of palpebral fissure", "large of palpebral fissures", "megalophthalmos" ], "HP:0001092": [ "absent lacrimal punctum", "absent lacrimal gland puncta", "absent lacrimal opening", "absent lacrimal openings", "absent lacrimal puncta", "agenesis of the lacrimal punctum", "aplasia of lacrimal puncta", "lacrimal puncta aplasia", "lacrimal punctum , absence" ], "HP:0007977": [ "absent lacrimal punctum", "absent lacrimal gland puncta", "absent lacrimal opening", "absent lacrimal openings", "absent lacrimal puncta", "agenesis of the lacrimal punctum", "aplasia of lacrimal puncta", "lacrimal puncta aplasia", "lacrimal punctum , absence" ], "HP:0001093": [ "optic nerve dysplasia" ], "HP:0001094": [ "iridocyclitis" ], "HP:0001095": [ "hypertensive retinopathy" ], "HP:0001096": [ "keratoconjunctivitis" ], "HP:0001097": [ "keratoconjunctivitis sicca", "dry eye syndrome", "dry eye", "dry eyes", "keratitis sicca", "xerophthalmia" ], "HP:0001098": [ "abnormal fundus morphology", "abnormality of the fundus" ], "HP:0001099": [ "fundus atrophy" ], "HP:0001100": [ "heterochromia iridis", "different color eye", "different colored eyes", "different colour eye", "different coloured eyes", "heterochromia iris", "heterochromia irides" ], "HP:0001101": [ "iritis", "inflammation of iris" ], "HP:0001102": [ "angioid streak of the fundus", "angioid streaks of the fundus", "angioid streak", "angioid streaks", "angioid streak of the retina", "angioid streaks of the retina", "angioid streak , retina", "angioid streaks , retina", "knapp streak", "knapp streaks", "laquer crack of the retina", "laquer cracks of the retina" ], "HP:0001103": [ "abnormal macular morphology", "abnormality of the macula", "macula abnormality", "macular abnormality" ], "HP:0001104": [ "macular hypoplasia" ], "HP:0001105": [ "retinal atrophy" ], "HP:0001106": [ "periorbital hyperpigmentation", "dark circle around the eye", "dark circles around the eyes", "dark circle under the eye", "dark circles under the eyes", "darken around the eye", "darkening around the eyes", "idiopathic cutaneous hyperchromia at the orbital region", "infraorbital pigmentation", "periorbital melanosis", "pigmentation around the eye", "pigmentation around the eyes" ], "HP:0001107": [ "ocular albinism", "absent pigmentation in the eye", "albinism , ocular" ], "HP:0007745": [ "ocular albinism", "absent pigmentation in the eye", "albinism , ocular" ], "HP:0007837": [ "ocular albinism", "absent pigmentation in the eye", "albinism , ocular" ], "HP:0001112": [ "leber optic atrophy", "leber optic atrophy feature", "leber optic atrophy features", "leber optic degeneration" ], "HP:0001086": [ "leber optic atrophy", "leber optic atrophy feature", "leber optic atrophy features", "leber optic degeneration" ], "HP:0001114": [ "xanthelasma", "fatty deposit in skin around the eye", "fatty deposits in skin around the eyes", "fatty deposit on eyelid", "fatty deposits on eyelids", "xanthelasma of eyelid", "xanthelasma of periocular region", "xanthelasma palpebrarum", "xanthoma", "xanthoma of eyelid", "xanthoma of periocular region" ], "HP:0001115": [ "posterior polar cataract", "polar cataract , posterior" ], "HP:0001116": [ "macular coloboma", "coloboma of the macula" ], "HP:0001117": [ "sudden loss of visual acuity", "sudden central visual loss", "sudden decrease in vision" ], "HP:0001118": [ "juvenile cataract" ], "HP:0001119": [ "keratoglobus" ], "HP:0001120": [ "abnormality of corneal size" ], "HP:0001123": [ "visual field defect", "partial loss of field of vision", "visual field defects" ], "HP:0001125": [ "transient unilateral blurring of vision", "hemianopic blurring", "hemianoptic blurring of vision", "transient unilateral blur vision", "transient unilateral blurred vision" ], "HP:0000583": [ "transient unilateral blurring of vision", "hemianopic blurring", "hemianoptic blurring of vision", "transient unilateral blur vision", "transient unilateral blurred vision" ], "HP:0001126": [ "cryptophthalmos" ], "HP:0008032": [ "cryptophthalmos" ], "HP:0001128": [ "trichiasis", "ingrown eyelash", "ingrown eyelashes", "introversion of eyelash", "introversion of eyelashes", "trichiasis of eyelid eyelash", "trichiasis of eyelid eyelashes" ], "HP:0001129": [ "large central visual field defect", "large central loss of field of vision" ], "HP:0001131": [ "corneal dystrophy" ], "HP:0007775": [ "corneal dystrophy" ], "HP:0001132": [ "lens subluxation", "partially dislocate lens", "partially dislocated lens" ], "HP:0001133": [ "constriction of peripheral visual field", "concentric narrowing of visual field", "constrict visual field", "constricted visual field", "constricted visual fields", "limited peripheral vision", "visual field constriction", "obsolete concentric narrowing of visual field" ], "HP:0007887": [ "constriction of peripheral visual field", "concentric narrowing of visual field", "constrict visual field", "constricted visual field", "constricted visual fields", "limited peripheral vision", "visual field constriction", "obsolete concentric narrowing of visual field" ], "HP:0007981": [ "constriction of peripheral visual field", "concentric narrowing of visual field", "constrict visual field", "constricted visual field", "constricted visual fields", "limited peripheral vision", "visual field constriction", "obsolete concentric narrowing of visual field" ], "HP:0001134": [ "anterior polar cataract", "polar cataract , anterior" ], "HP:0001135": [ "chorioretinal dystrophy", "obsolete choroidal dystrophy", "obsolete congenital chorioretinal dystrophy" ], "HP:0007712": [ "chorioretinal dystrophy", "obsolete choroidal dystrophy", "obsolete congenital chorioretinal dystrophy" ], "HP:0007920": [ "chorioretinal dystrophy", "obsolete choroidal dystrophy", "obsolete congenital chorioretinal dystrophy" ], "HP:0001136": [ "retinal arteriolar tortuosity", "tortuous retinal arteriole", "tortuous retinal arterioles" ], "HP:0001137": [ "alternate esotropia", "alternating esotropia", "alternate cross eye", "alternating cross eyes" ], "HP:0001138": [ "optic neuropathy", "damage optic nerve", "damaged optic nerve" ], "HP:0007806": [ "optic neuropathy", "damage optic nerve", "damaged optic nerve" ], "HP:0001139": [ "choroideremia" ], "HP:0001140": [ "limbal dermoid", "benign eye tumor", "benign eye tumour", "epibulbar dermoid", "epibulbar dermoids" ], "HP:0001141": [ "severely reduce visual acuity", "severely reduced visual acuity", "mark vision impairment", "marked vision impairment", "severe reduction in visual acuity", "severe vision loss", "severe visual impairment", "severe visual loss", "severely impaired vision" ], "HP:0007640": [ "severely reduce visual acuity", "severely reduced visual acuity", "mark vision impairment", "marked vision impairment", "severe reduction in visual acuity", "severe vision loss", "severe visual impairment", "severe visual loss", "severely impaired vision" ], "HP:0007842": [ "severely reduce visual acuity", "severely reduced visual acuity", "mark vision impairment", "marked vision impairment", "severe reduction in visual acuity", "severe vision loss", "severe visual impairment", "severe visual loss", "severely impaired vision" ], "HP:0007951": [ "severely reduce visual acuity", "severely reduced visual acuity", "mark vision impairment", "marked vision impairment", "severe reduction in visual acuity", "severe vision loss", "severe visual impairment", "severe visual loss", "severely impaired vision" ], "HP:0008023": [ "severely reduce visual acuity", "severely reduced visual acuity", "mark vision impairment", "marked vision impairment", "severe reduction in visual acuity", "severe vision loss", "severe visual impairment", "severe visual loss", "severely impaired vision" ], "HP:0001142": [ "lenticonus" ], "HP:0001144": [ "orbital cyst", "cyst of eye socket", "orbital cysts" ], "HP:0001147": [ "retinal exudate", "retinal exudates" ], "HP:0001149": [ "lattice corneal dystrophy", "biber haab dimmer dystrophy" ], "HP:0001151": [ "impaired horizontal smooth pursuit", "abnormal horizontal ocular pursuit", "impaired horizontal visual pursuit" ], "HP:0001152": [ "saccadic smooth pursuit", "saccadic pursuit movement", "saccadic pursuit movements", "saccadic slow pursuit" ], "HP:0000530": [ "saccadic smooth pursuit", "saccadic pursuit movement", "saccadic pursuit movements", "saccadic slow pursuit" ], "HP:0001153": [ "septate vagina", "double vagina" ], "HP:0001155": [ "abnormality of the hand", "abnormal hand", "abnormal hands", "hand anomaly", "hand anomalies", "hand deformity", "hand deformities" ], "HP:0005858": [ "abnormality of the hand", "abnormal hand", "abnormal hands", "hand anomaly", "hand anomalies", "hand deformity", "hand deformities" ], "HP:0001156": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0001189": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0001201": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0005630": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0005657": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0005727": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0006017": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0006128": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0100667": [ "brachydactyly", "brachydactyly syndrome", "short finger or toe", "short fingers or toes" ], "HP:0001159": [ "syndactyly", "webbed finger or toe", "webbed fingers or toes" ], "HP:0001206": [ "syndactyly", "webbed finger or toe", "webbed fingers or toes" ], "HP:0001236": [ "syndactyly", "webbed finger or toe", "webbed fingers or toes" ], "HP:0001161": [ "hand polydactyly", "extra finger", "finger polydactyly", "polydactyly of the hand", "supernumerary finger" ], "HP:0001162": [ "postaxial hand polydactyly", "extra little finger", "extra pinkie finger", "extra pinky finger", "polydactyly affect the 5th finger", "polydactyly affecting the 5th finger", "postaxial polydactyly of finger", "postaxial polydactyly of fingers", "postaxial polydactyly of hand", "postaxial polydactyly of hands" ], "HP:0004698": [ "postaxial hand polydactyly", "extra little finger", "extra pinkie finger", "extra pinky finger", "polydactyly affect the 5th finger", "polydactyly affecting the 5th finger", "postaxial polydactyly of finger", "postaxial polydactyly of fingers", "postaxial polydactyly of hand", "postaxial polydactyly of hands" ], "HP:0005763": [ "postaxial hand polydactyly", "extra little finger", "extra pinkie finger", "extra pinky finger", "polydactyly affect the 5th finger", "polydactyly affecting the 5th finger", "postaxial polydactyly of finger", "postaxial polydactyly of fingers", "postaxial polydactyly of hand", "postaxial polydactyly of hands" ], "HP:0009984": [ "postaxial hand polydactyly", "extra little finger", "extra pinkie finger", "extra pinky finger", "polydactyly affect the 5th finger", "polydactyly affecting the 5th finger", "postaxial polydactyly of finger", "postaxial polydactyly of fingers", "postaxial polydactyly of hand", "postaxial polydactyly of hands" ], "HP:0001163": [ "abnormality of the metacarpal bone", "abnormality of the metacarpal bones", "abnormality of the long bone of hand", "anomaly of the metacarpal bone", "anomaly of the metacarpal bones" ], "HP:0001166": [ "arachnodactyly", "long slender finger", "long slender fingers", "long , slender finger", "long , slender fingers", "spider finger", "spider fingers" ], "HP:0001505": [ "arachnodactyly", "long slender finger", "long slender fingers", "long , slender finger", "long , slender fingers", "spider finger", "spider fingers" ], "HP:0001167": [ "abnormality of finger", "abnormality of the finger", "abnormalities of the fingers" ], "HP:0003035": [ "abnormality of finger", "abnormality of the finger", "abnormalities of the fingers" ], "HP:0001169": [ "broad palm", "broad hand", "broad hands", "wide palm" ], "HP:0001174": [ "broad palm", "broad hand", "broad hands", "wide palm" ], "HP:0001171": [ "split hand", "claw hand", "claw hand deformity", "claw hand deformities", "claw hands", "claw - hand deformity", "claw - hand deformities", "ectrodactyly of the hand", "hand ectrodactyly", "split - hand" ], "HP:0001247": [ "split hand", "claw hand", "claw hand deformity", "claw hand deformities", "claw hands", "claw - hand deformity", "claw - hand deformities", "ectrodactyly of the hand", "hand ectrodactyly", "split - hand" ], "HP:0003050": [ "split hand", "claw hand", "claw hand deformity", "claw hand deformities", "claw hands", "claw - hand deformity", "claw - hand deformities", "ectrodactyly of the hand", "hand ectrodactyly", "split - hand" ], "HP:0001172": [ "abnormal thumb morphology", "abnormality of the thumb", "abnormality of the thumbs", "thumb deformity" ], "HP:0001176": [ "large hand", "large hands", "disproportionately large hand", "disproportionately large hands" ], "HP:0002820": [ "large hand", "large hands", "disproportionately large hand", "disproportionately large hands" ], "HP:0006044": [ "large hand", "large hands", "disproportionately large hand", "disproportionately large hands" ], "HP:0006219": [ "large hand", "large hands", "disproportionately large hand", "disproportionately large hands" ], "HP:0001177": [ "preaxial hand polydactyly", "extra thumb", "polydactyly affect the thumb", "polydactyly affecting the thumb", "preaxial polydactyly of hand", "preaxial polydactyly of hands", "supernumerary thumb", "thumb polydactyly" ], "HP:0005629": [ "preaxial hand polydactyly", "extra thumb", "polydactyly affect the thumb", "polydactyly affecting the thumb", "preaxial polydactyly of hand", "preaxial polydactyly of hands", "supernumerary thumb", "thumb polydactyly" ], "HP:0005634": [ "preaxial hand polydactyly", "extra thumb", "polydactyly affect the thumb", "polydactyly affecting the thumb", "preaxial polydactyly of hand", "preaxial polydactyly of hands", "supernumerary thumb", "thumb polydactyly" ], "HP:0006182": [ "preaxial hand polydactyly", "extra thumb", "polydactyly affect the thumb", "polydactyly affecting the thumb", "preaxial polydactyly of hand", "preaxial polydactyly of hands", "supernumerary thumb", "thumb polydactyly" ], "HP:0009604": [ "preaxial hand polydactyly", "extra thumb", "polydactyly affect the thumb", "polydactyly affecting the thumb", "preaxial polydactyly of hand", "preaxial polydactyly of hands", "supernumerary thumb", "thumb polydactyly" ], "HP:0001178": [ "ulnar claw" ], "HP:0001180": [ "hand oligodactyly", "hand have less than 5 finger", "hand has less than 5 fingers" ], "HP:0001181": [ "adduct thumb", "adducted thumb", "adducted thumbs", "inward turn thumb", "inward turned thumb" ], "HP:0005646": [ "adduct thumb", "adducted thumb", "adducted thumbs", "inward turn thumb", "inward turned thumb" ], "HP:0001182": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0005795": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0005800": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006032": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006080": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006098": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006111": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006125": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0006244": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0007532": [ "taper finger", "tapered finger", "distally taper finger", "distally tapering fingers", "tapered fingers", "taper fingertip", "tapered fingertips", "tapering fingers" ], "HP:0001187": [ "hyperextensibility of the finger joint", "hyperextensibility of the finger joints", "finger joint hyperextensibility", "hyperextensible digit", "hyperextensible digits", "hyperextensible finger", "hyperextensible fingers", "obsolete finger joint hyperextensibility" ], "HP:0006158": [ "hyperextensibility of the finger joint", "hyperextensibility of the finger joints", "finger joint hyperextensibility", "hyperextensible digit", "hyperextensible digits", "hyperextensible finger", "hyperextensible fingers", "obsolete finger joint hyperextensibility" ], "HP:0001188": [ "hand clench", "hand clenching", "clench hand", "clenched hands" ], "HP:0001191": [ "abnormality of the carpal bone", "abnormality of the carpal bones", "abnormal carpal bone", "abnormal carpal bones", "abnormal wrist bone", "abnormal wrist bones", "anomalous carpal bone", "anomalous carpal bones", "carpal bone anomaly", "carpal bone anomalies" ], "HP:0001193": [ "ulnar deviation of the hand or of finger of the hand", "ulnar deviation of the hand or of fingers of the hand" ], "HP:0001194": [ "abnormality of placenta or umbilical cord", "abnormalities of placenta or umbilical cord" ], "HP:0001195": [ "single umbilical artery", "2 vessel cord", "2 vessel umbilical cord", "only one artery in umbilical cord instead of two", "two vessel cord", "two vessel umbilical cord", "two - vessel cord" ], "HP:0001196": [ "short umbilical cord" ], "HP:0001197": [ "abnormality of prenatal development or birth" ], "HP:0001199": [ "triphalangeal thumb", "accessory phalanx of the thumb", "digitalize thumb", "digitalized thumb", "finger - like thumb", "triphalangeal thumbs", "triphalangy of thumb" ], "HP:0005846": [ "triphalangeal thumb", "accessory phalanx of the thumb", "digitalize thumb", "digitalized thumb", "finger - like thumb", "triphalangeal thumbs", "triphalangy of thumb" ], "HP:0006194": [ "triphalangeal thumb", "accessory phalanx of the thumb", "digitalize thumb", "digitalized thumb", "finger - like thumb", "triphalangeal thumbs", "triphalangy of thumb" ], "HP:0009610": [ "triphalangeal thumb", "accessory phalanx of the thumb", "digitalize thumb", "digitalized thumb", "finger - like thumb", "triphalangeal thumbs", "triphalangy of thumb" ], "HP:0009619": [ "triphalangeal thumb", "accessory phalanx of the thumb", "digitalize thumb", "digitalized thumb", "finger - like thumb", "triphalangeal thumbs", "triphalangy of thumb" ], "HP:0001204": [ "distal symphalangism of hand", "distal symphalangism of hands", "fuse outermost bone of hand", "fused outermost bones of hand", "symphalangism affect the distal phalanx of the hand", "symphalangism affecting the distal phalanges of the hand", "synostosis of distal phalanx", "synostosis of distal phalanges", "terminal symphalangism" ], "HP:0006079": [ "distal symphalangism of hand", "distal symphalangism of hands", "fuse outermost bone of hand", "fused outermost bones of hand", "symphalangism affect the distal phalanx of the hand", "symphalangism affecting the distal phalanges of the hand", "synostosis of distal phalanx", "synostosis of distal phalanges", "terminal symphalangism" ], "HP:0006116": [ "distal symphalangism of hand", "distal symphalangism of hands", "fuse outermost bone of hand", "fused outermost bones of hand", "symphalangism affect the distal phalanx of the hand", "symphalangism affecting the distal phalanges of the hand", "synostosis of distal phalanx", "synostosis of distal phalanges", "terminal symphalangism" ], "HP:0009841": [ "distal symphalangism of hand", "distal symphalangism of hands", "fuse outermost bone of hand", "fused outermost bones of hand", "symphalangism affect the distal phalanx of the hand", "symphalangism affecting the distal phalanges of the hand", "synostosis of distal phalanx", "synostosis of distal phalanges", "terminal symphalangism" ], "HP:0009871": [ "distal symphalangism of hand", "distal symphalangism of hands", "fuse outermost bone of hand", "fused outermost bones of hand", "symphalangism affect the distal phalanx of the hand", "symphalangism affecting the distal phalanges of the hand", "synostosis of distal phalanx", "synostosis of distal phalanges", "terminal symphalangism" ], "HP:0001211": [ "abnormal fingertip morphology", "abnormality of the fingertip", "abnormality of the fingertips" ], "HP:0001212": [ "prominent fingertip pad", "prominent fingertip pads", "persistence of fingerpads", "persistent fetal fingertip pad", "persistent fetal fingertip pads", "persistent foetal fingertip pad", "persistent foetal fingertip pads", "prominent finger pad", "prominent finger pads" ], "HP:0001235": [ "prominent fingertip pad", "prominent fingertip pads", "persistence of fingerpads", "persistent fetal fingertip pad", "persistent fetal fingertip pads", "persistent foetal fingertip pad", "persistent foetal fingertip pads", "prominent finger pad", "prominent finger pads" ], "HP:0001215": [ "camptodactyly of 2nd - 5th finger", "camptodactyly of 2nd - 5th fingers" ], "HP:0001216": [ "delay ossification of carpal bone", "delayed ossification of carpal bones", "carpal delay ossification", "carpal delayed ossification", "delay carpal bone age", "delayed carpal bone age", "delay carpal ossification", "delayed carpal ossification", "delay maturation of carpal bone", "delayed maturation of carpal bones", "delay maturation of wrist bone", "delayed maturation of wrist bone" ], "HP:0001217": [ "club", "clubbing", "clubbing of finger and toe", "clubbing of fingers and toes", "digital clubbing" ], "HP:0003036": [ "club", "clubbing", "clubbing of finger and toe", "clubbing of fingers and toes", "digital clubbing" ], "HP:0005874": [ "club", "clubbing", "clubbing of finger and toe", "clubbing of fingers and toes", "digital clubbing" ], "HP:0001218": [ "autoamputation" ], "HP:0001220": [ "interphalangeal joint contracture of finger", "interphalangeal joint flexion contracture", "interphalangeal joint flexion contractures" ], "HP:0001222": [ "spatulate thumb", "spatulate thumbs", "spoon shape thumb", "spoon shaped thumbs" ], "HP:0001223": [ "point proximal second through fifth metacarpal", "pointed proximal second through fifth metacarpals" ], "HP:0001225": [ "wrist swell", "wrist swelling" ], "HP:0001226": [ "obsolete acral ulceration and osteomyelitis lead to autoamputation of digit", "obsolete acral ulceration and osteomyelitis leading to autoamputation of digits", "acral ulceration" ], "HP:0001227": [ "abnormality of the thenar eminence", "thenar abnormality" ], "HP:0001230": [ "broad metacarpal", "broad metacarpals", "wide long bone of hand", "wide long bones of hand", "wide metacarpal", "wide metacarpals" ], "HP:0006024": [ "broad metacarpal", "broad metacarpals", "wide long bone of hand", "wide long bones of hand", "wide metacarpal", "wide metacarpals" ], "HP:0006065": [ "broad metacarpal", "broad metacarpals", "wide long bone of hand", "wide long bones of hand", "wide metacarpal", "wide metacarpals" ], "HP:0001231": [ "abnormal fingernail morphology", "abnormal fingernail", "abnormal fingernails", "abnormality of the fingernail", "abnormality of the fingernails" ], "HP:0001232": [ "nail bed telangiectasia", "nail bed telangiectases" ], "HP:0001233": [ "2 - 3 finger syndactyly", "syndactyly 2nd - 3rd finger", "syndactyly 2nd - 3rd fingers", "syndactyly , 2 - 3 finger", "web 2nd - 3rd finger", "webbed 2nd - 3rd fingers" ], "HP:0006039": [ "2 - 3 finger syndactyly", "syndactyly 2nd - 3rd finger", "syndactyly 2nd - 3rd fingers", "syndactyly , 2 - 3 finger", "web 2nd - 3rd finger", "webbed 2nd - 3rd fingers" ], "HP:0006122": [ "2 - 3 finger syndactyly", "syndactyly 2nd - 3rd finger", "syndactyly 2nd - 3rd fingers", "syndactyly , 2 - 3 finger", "web 2nd - 3rd finger", "webbed 2nd - 3rd fingers" ], "HP:0001234": [ "hitchhiker thumb", "abduct thumb", "abducted thumb" ], "HP:0001238": [ "slender finger", "narrow finger", "narrow fingers", "slender fingers", "thin finger", "thin fingers" ], "HP:0001239": [ "wrist flexion contracture", "wrist contracture", "wrist flexion deformity" ], "HP:0006049": [ "wrist flexion contracture", "wrist contracture", "wrist flexion deformity" ], "HP:0006137": [ "wrist flexion contracture", "wrist contracture", "wrist flexion deformity" ], "HP:0001241": [ "capitate - hamate fusion", "capitate - hamate fusions", "fuse capitate and hamate", "fused capitate and hamate", "fusion of capitate and hamate", "fusion of hamate and capitate" ], "HP:0001245": [ "small thenar eminence", "decrease thenar eminence", "decreased thenar eminence", "hypoplastic thenar eminence", "hypoplastic thenar eminences", "thenar hypoplasia", "thenar muscle hypoplasia" ], "HP:0006188": [ "small thenar eminence", "decrease thenar eminence", "decreased thenar eminence", "hypoplastic thenar eminence", "hypoplastic thenar eminences", "thenar hypoplasia", "thenar muscle hypoplasia" ], "HP:0001248": [ "short tubular bone of the hand", "short tubular bones of the hand", "shorten short tubular bone of the hand", "shortened short tubular bones of the hand" ], "HP:0001249": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0000730": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0001267": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0001286": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002122": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002192": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002316": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002382": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002386": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002402": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002458": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002482": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002499": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0002543": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0003767": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0006833": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0006877": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0007154": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0007176": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0007180": [ "intellectual disability", "dull intelligence", "low intelligence", "mental deficiency", "mental retardation", "mental retardation , nonspecific", "mental - retardation", "nonprogressive intellectual disability", "nonprogressive mental retardation", "poor school performance", "obsolete mental retardation , in some" ], "HP:0001250": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0001275": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0001303": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002125": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002182": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002279": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002306": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002348": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002391": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002417": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002430": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002431": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002432": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002434": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002437": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002466": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002479": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0002794": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0006997": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0010520": [ "seizure", "epilepsy", "epileptic seizure", "seizures" ], "HP:0001251": [ "ataxia", "cerebellar ataxia" ], "HP:0001253": [ "ataxia", "cerebellar ataxia" ], "HP:0002513": [ "ataxia", "cerebellar ataxia" ], "HP:0007050": [ "ataxia", "cerebellar ataxia" ], "HP:0007157": [ "ataxia", "cerebellar ataxia" ], "HP:0001252": [ "hypotonia", "central hypotonia", "low muscle tone", "low or weak muscle tone", "muscle hypotonia", "muscular hypotonia", "peripheral hypotonia", "obsolete central hypotonia" ], "HP:0011398": [ "hypotonia", "central hypotonia", "low muscle tone", "low or weak muscle tone", "muscle hypotonia", "muscular hypotonia", "peripheral hypotonia", "obsolete central hypotonia" ], "HP:0001254": [ "lethargy" ], "HP:0001256": [ "intellectual disability , mild", "mental retardation , borderline - mild", "mental retardation , mild", "mild and nonprogressive mental retardation", "mild mental retardation" ], "HP:0006908": [ "intellectual disability , mild", "mental retardation , borderline - mild", "mental retardation , mild", "mild and nonprogressive mental retardation", "mild mental retardation" ], "HP:0007119": [ "intellectual disability , mild", "mental retardation , borderline - mild", "mental retardation , mild", "mild and nonprogressive mental retardation", "mild mental retardation" ], "HP:0001257": [ "spasticity", "involuntary muscle stiffness , contraction , or spasm", "muscle spasticity", "muscular spasticity" ], "HP:0001258": [ "spastic paraplegia", "spastic paraplegia , low limb", "spastic paraplegia , lower limb" ], "HP:0007062": [ "spastic paraplegia", "spastic paraplegia , low limb", "spastic paraplegia , lower limb" ], "HP:0007124": [ "spastic paraplegia", "spastic paraplegia , low limb", "spastic paraplegia , lower limb" ], "HP:0007216": [ "spastic paraplegia", "spastic paraplegia , low limb", "spastic paraplegia , lower limb" ], "HP:0001259": [ "coma" ], "HP:0001260": [ "dysarthria", "difficulty articulate speech", "difficulty articulating speech", "dysarthric speech" ], "HP:0002327": [ "dysarthria", "difficulty articulate speech", "difficulty articulating speech", "dysarthric speech" ], "HP:0001262": [ "excessive daytime somnolence", "excessive daytime sleepiness", "more than typical sleepiness during day", "obsolete excessive daytime sleepiness" ], "HP:0002189": [ "excessive daytime somnolence", "excessive daytime sleepiness", "more than typical sleepiness during day", "obsolete excessive daytime sleepiness" ], "HP:0001263": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0000754": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0001255": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0001277": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0001292": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0002433": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0002473": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0002532": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0006793": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0006867": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0006885": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0006935": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007005": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007094": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007106": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007174": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007224": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007228": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0007342": [ "global developmental delay", "cognitive delay", "delay cognitive development", "delayed cognitive development", "delay development", "delayed development", "delay developmental milestone", "delayed developmental milestones", "delay intellectual development", "delayed intellectual development", "delay milestone", "delayed milestones", "delay psychomotor development", "delayed psychomotor development", "developmental delay", "developmental delay in early childhood", "developmental delay , global", "developmental retardation", "lack of psychomotor development", "mental and motor retardation", "motor and developmental delay", "psychomotor delay", "psychomotor development deficiency", "psychomotor development failure", "psychomotor developmental delay", "retard development", "retarded development", "retarded mental development", "retarded psychomotor development" ], "HP:0001264": [ "spastic diplegia", "spastic diparesis" ], "HP:0001265": [ "hyporeflexia", "decrease reflex response", "decreased reflex response", "decrease reflex", "decreased reflexes" ], "HP:0002467": [ "hyporeflexia", "decrease reflex response", "decreased reflex response", "decrease reflex", "decreased reflexes" ], "HP:0001266": [ "choreoathetosis", "choreoathetoid movement", "choreoathetoid movements" ], "HP:0002469": [ "choreoathetosis", "choreoathetoid movement", "choreoathetoid movements" ], "HP:0006811": [ "choreoathetosis", "choreoathetoid movement", "choreoathetoid movements" ], "HP:0007028": [ "choreoathetosis", "choreoathetoid movement", "choreoathetoid movements" ], "HP:0007337": [ "choreoathetosis", "choreoathetoid movement", "choreoathetoid movements" ], "HP:0001268": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0002303": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0006822": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0007155": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0007253": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0007264": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0007298": [ "mental deterioration", "cognitive decline", "cognitive decline , progressive", "intellectual deterioration", "progressive cognitive decline" ], "HP:0001269": [ "hemiparesis", "weakness of one side of body" ], "HP:0001270": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0001307": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0002130": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0006788": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0006826": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0006909": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0006950": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0006968": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0007219": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0007251": [ "motor delay", "delay in motor development", "delay early motor milestone", "delayed early motor milestones", "delay motor development", "delayed motor development", "delay motor milestone", "delayed motor milestones", "locomotor delay", "motor developmental delay", "motor developmental milestone not achieve", "motor developmental milestones not achieved", "motor retardation", "no development of motor milestone", "no development of motor milestones", "retard motor development", "retarded motor development" ], "HP:0001271": [ "polyneuropathy", "peripheral nerve disease" ], "HP:0006941": [ "polyneuropathy", "peripheral nerve disease" ], "HP:0007287": [ "polyneuropathy", "peripheral nerve disease" ], "HP:0001272": [ "cerebellar atrophy", "atrophic cerebellum", "degeneration of cerebellum", "infratentorial atrophy" ], "HP:0002364": [ "cerebellar atrophy", "atrophic cerebellum", "degeneration of cerebellum", "infratentorial atrophy" ], "HP:0006839": [ "cerebellar atrophy", "atrophic cerebellum", "degeneration of cerebellum", "infratentorial atrophy" ], "HP:0007072": [ "cerebellar atrophy", "atrophic cerebellum", "degeneration of cerebellum", "infratentorial atrophy" ], "HP:0007203": [ "cerebellar atrophy", "atrophic cerebellum", "degeneration of cerebellum", "infratentorial atrophy" ], "HP:0001273": [ "abnormal corpus callosum morphology", "abnormal corpus callosum", "abnormality of the corpus callosum", "corpus callosum abnormality" ], "HP:0007323": [ "abnormal corpus callosum morphology", "abnormal corpus callosum", "abnormality of the corpus callosum", "corpus callosum abnormality" ], "HP:0001274": [ "agenesis of corpus callosum", "absence of corpus callosum", "absent corpus callosum", "agenesis of the corpus callosum", "callosal agenesis", "corpus callosum agenesis", "dysplastic or absent corpus callosum" ], "HP:0006800": [ "agenesis of corpus callosum", "absence of corpus callosum", "absent corpus callosum", "agenesis of the corpus callosum", "callosal agenesis", "corpus callosum agenesis", "dysplastic or absent corpus callosum" ], "HP:0001276": [ "hypertonia", "hypertonicity", "increased muscle tone", "muscle hypertonia", "spasticity and rigidity of muscle", "spasticity and rigidity of muscles" ], "HP:0002388": [ "hypertonia", "hypertonicity", "increased muscle tone", "muscle hypertonia", "spasticity and rigidity of muscle", "spasticity and rigidity of muscles" ], "HP:0001278": [ "orthostatic hypotension", "decrease in blood pressure upon stand up", "decrease in blood pressure upon standing up", "postural hypotension" ], "HP:0004932": [ "orthostatic hypotension", "decrease in blood pressure upon stand up", "decrease in blood pressure upon standing up", "postural hypotension" ], "HP:0006700": [ "orthostatic hypotension", "decrease in blood pressure upon stand up", "decrease in blood pressure upon standing up", "postural hypotension" ], "HP:0001279": [ "syncope", "fainting spell" ], "HP:0001281": [ "tetany", "intermittent involuntary muscle spasm" ], "HP:0001283": [ "bulbar palsy", "bulbar muscle weakness", "bulbar palsies", "bulbar weakness" ], "HP:0003441": [ "bulbar palsy", "bulbar muscle weakness", "bulbar palsies", "bulbar weakness" ], "HP:0003709": [ "bulbar palsy", "bulbar muscle weakness", "bulbar palsies", "bulbar weakness" ], "HP:0001284": [ "areflexia", "absent deep tendon reflex", "absent deep tendon reflexes", "absent reflex", "absent reflexes", "absent tendon reflex", "absent tendon reflexes", "deep tendon reflex absent", "deep tendon reflexes absent", "loss of deep tendon reflex", "loss of deep tendon reflexes" ], "HP:0001314": [ "areflexia", "absent deep tendon reflex", "absent deep tendon reflexes", "absent reflex", "absent reflexes", "absent tendon reflex", "absent tendon reflexes", "deep tendon reflex absent", "deep tendon reflexes absent", "loss of deep tendon reflex", "loss of deep tendon reflexes" ], "HP:0001285": [ "spastic tetraparesis", "spastic quadriparesis" ], "HP:0002393": [ "spastic tetraparesis", "spastic quadriparesis" ], "HP:0001287": [ "meningitis" ], "HP:0001288": [ "gait disturbance", "abnormal gait", "abnormal walk", "gait abnormality", "gait abnormalities", "gait difficulty", "gait difficulties", "gait disturbances", "impaired gait" ], "HP:0006953": [ "gait disturbance", "abnormal gait", "abnormal walk", "gait abnormality", "gait abnormalities", "gait difficulty", "gait difficulties", "gait disturbances", "impaired gait" ], "HP:0001289": [ "confusion", "disorientation", "easily confuse", "easily confused", "mental disorientation" ], "HP:0000731": [ "confusion", "disorientation", "easily confuse", "easily confused", "mental disorientation" ], "HP:0001290": [ "generalize hypotonia", "generalized hypotonia", "generalise decreased muscle tone", "generalised decreased muscle tone", "generalise hypotonia", "generalised hypotonia", "generalise muscular hypotonia", "generalised muscular hypotonia", "generalize decreased muscle tone", "generalized decreased muscle tone", "generalize muscular hypotonia", "generalized muscular hypotonia", "hypotonia , generalise", "hypotonia , generalised", "hypotonia , generalize", "hypotonia , generalized" ], "HP:0001291": [ "abnormal cranial nerve morphology", "abnormality of cranial nerve", "abnormality of the cranial nerve", "abnormality of the cranial nerves", "cranial nerve abnormality", "cranial nerve disease", "cranial nerve involvement" ], "HP:0003480": [ "abnormal cranial nerve morphology", "abnormality of cranial nerve", "abnormality of the cranial nerve", "abnormality of the cranial nerves", "cranial nerve abnormality", "cranial nerve disease", "cranial nerve involvement" ], "HP:0001293": [ "cranial nerve compression" ], "HP:0001297": [ "stroke", "cerebral vascular event", "cerebral vascular events", "cerebrovascular accident", "cerebrovascular accidents" ], "HP:0002452": [ "stroke", "cerebral vascular event", "cerebral vascular events", "cerebrovascular accident", "cerebrovascular accidents" ], "HP:0001298": [ "encephalopathy" ], "HP:0001300": [ "parkinsonism", "parkinsonian disease" ], "HP:0001301": [ "chronic sensorineural polyneuropathy" ], "HP:0001302": [ "pachygyria", "cerebral pachygyria", "few and broad ridge in brain", "fewer and broader ridges in brain" ], "HP:0001304": [ "torsion dystonia", "dystonia musculorum deformans" ], "HP:0001305": [ "dandy - walker malformation", "dandy - walker anomaly", "dandy - walker cyst" ], "HP:0001313": [ "dandy - walker malformation", "dandy - walker anomaly", "dandy - walker cyst" ], "HP:0006809": [ "dandy - walker malformation", "dandy - walker anomaly", "dandy - walker cyst" ], "HP:0001308": [ "tongue fasciculation", "tongue fasciculations", "lingual fasciculation", "lingual fasciculations", "lingual fibrillation", "lingual fibrillations", "lingual twitching", "tongue fasciculation / fibrillation", "tongue fasciculations / fibrillations", "tongue twitching", "twitching of the tongue" ], "HP:0003727": [ "tongue fasciculation", "tongue fasciculations", "lingual fasciculation", "lingual fasciculations", "lingual fibrillation", "lingual fibrillations", "lingual twitching", "tongue fasciculation / fibrillation", "tongue fasciculations / fibrillations", "tongue twitching", "twitching of the tongue" ], "HP:0001310": [ "dysmetria", "abnormal finger chase test", "abnormal finger - nose - finger test", "lack of coordination of movement" ], "HP:0001311": [ "abnormal nervous system electrophysiology", "neurophysiologic abnormality", "neurophysiologic abnormalities" ], "HP:0002531": [ "abnormal nervous system electrophysiology", "neurophysiologic abnormality", "neurophysiologic abnormalities" ], "HP:0003129": [ "abnormal nervous system electrophysiology", "neurophysiologic abnormality", "neurophysiologic abnormalities" ], "HP:0001312": [ "giant somatosensory evoke potential", "giant somatosensory evoked potentials", "giant sep", "giant seps" ], "HP:0001315": [ "reduce tendon reflex", "reduced tendon reflexes", "absent or decrease deep tendon reflex", "absent or decreased deep tendon reflexes", "decrease deep tendon reflex", "decreased deep tendon reflexes", "decrease tendon reflex", "decreased tendon reflexes", "decrease to absent deep tendon reflex", "decreased to absent deep tendon reflexes", "decrease / absent deep tendon reflex", "decreased / absent deep tendon reflexes", "depressed tendon reflex", "depressed tendon reflexes", "diminish deep tendon reflex", "diminished deep tendon reflexes", "diminish or absent deep tendon reflex", "diminished or absent deep tendon reflexes", "diminish or absent tendon reflex", "diminished or absent tendon reflexes", "hypoactive to absent deep tendon reflex", "hypoactive to absent deep tendon reflexes", "impaired tendon reflex", "impaired tendon reflexes", "reduce / absent deep tendon reflex", "reduced / absent deep tendon reflexes", "weak or absent deep tendon reflex", "weak or absent deep tendon reflexes" ], "HP:0001316": [ "reduce tendon reflex", "reduced tendon reflexes", "absent or decrease deep tendon reflex", "absent or decreased deep tendon reflexes", "decrease deep tendon reflex", "decreased deep tendon reflexes", "decrease tendon reflex", "decreased tendon reflexes", "decrease to absent deep tendon reflex", "decreased to absent deep tendon reflexes", "decrease / absent deep tendon reflex", "decreased / absent deep tendon reflexes", "depressed tendon reflex", "depressed tendon reflexes", "diminish deep tendon reflex", "diminished deep tendon reflexes", "diminish or absent deep tendon reflex", "diminished or absent deep tendon reflexes", "diminish or absent tendon reflex", "diminished or absent tendon reflexes", "hypoactive to absent deep tendon reflex", "hypoactive to absent deep tendon reflexes", "impaired tendon reflex", "impaired tendon reflexes", "reduce / absent deep tendon reflex", "reduced / absent deep tendon reflexes", "weak or absent deep tendon reflex", "weak or absent deep tendon reflexes" ], "HP:0001317": [ "abnormal cerebellum morphology", "abnormality of the cerebellum", "cerebellar abnormality", "cerebellar abnormalities", "cerebellar anomaly", "cerebellar sign", "cerebellar signs" ], "HP:0001319": [ "neonatal hypotonia", "congenital hypotonia", "hypotonia , in neonatal onset", "hypotonia , neonatal", "low muscle tone , in neonatal onset", "obsolete severe neonatal hypotonia in male", "obsolete severe neonatal hypotonia in males" ], "HP:0006830": [ "neonatal hypotonia", "congenital hypotonia", "hypotonia , in neonatal onset", "hypotonia , neonatal", "low muscle tone , in neonatal onset", "obsolete severe neonatal hypotonia in male", "obsolete severe neonatal hypotonia in males" ], "HP:0008976": [ "neonatal hypotonia", "congenital hypotonia", "hypotonia , in neonatal onset", "hypotonia , neonatal", "low muscle tone , in neonatal onset", "obsolete severe neonatal hypotonia in male", "obsolete severe neonatal hypotonia in males" ], "HP:0001320": [ "cerebellar vermis hypoplasia", "cerebellar vermal hypoplasia", "hypoplasia of the cerebellar vermis", "hypoplastic cerebellar vermis" ], "HP:0001321": [ "cerebellar hypoplasia", "congenital cerebellar hypoplasia", "hypoplasia of cerebellum", "hypoplastic cerebellum", "small cerebellum", "underdeveloped cerebellum" ], "HP:0006806": [ "cerebellar hypoplasia", "congenital cerebellar hypoplasia", "hypoplasia of cerebellum", "hypoplastic cerebellum", "small cerebellum", "underdeveloped cerebellum" ], "HP:0006910": [ "cerebellar hypoplasia", "congenital cerebellar hypoplasia", "hypoplasia of cerebellum", "hypoplastic cerebellum", "small cerebellum", "underdeveloped cerebellum" ], "HP:0007038": [ "cerebellar hypoplasia", "congenital cerebellar hypoplasia", "hypoplasia of cerebellum", "hypoplastic cerebellum", "small cerebellum", "underdeveloped cerebellum" ], "HP:0007053": [ "cerebellar hypoplasia", "congenital cerebellar hypoplasia", "hypoplasia of cerebellum", "hypoplastic cerebellum", "small cerebellum", "underdeveloped cerebellum" ], "HP:0001322": [ "obsolete brain very small", "cerebral hypoplasia", "small cerebrum", "underdeveloped cerebrum" ], "HP:0001324": [ "muscle weakness", "muscular weakness" ], "HP:0002309": [ "muscle weakness", "muscular weakness" ], "HP:0008979": [ "muscle weakness", "muscular weakness" ], "HP:0009012": [ "muscle weakness", "muscular weakness" ], "HP:0009061": [ "muscle weakness", "muscular weakness" ], "HP:0001325": [ "hypoglycemic coma", "coma cause by low blood sugar", "coma caused by low blood sugar", "coma , hypoglycemic", "hypoglycaemic coma", "loss of consciousness due to hypoglycemia" ], "HP:0001326": [ "eeg with irregular generalize spike and wave complex", "eeg with irregular generalized spike and wave complexes", "eeg with irregular generalise spike and wave complex", "eeg with irregular generalised spike and wave complexes" ], "HP:0001327": [ "photosensitive myoclonic seizure", "photically induce myoclonic seizure", "photically induced myoclonic seizure", "photomyoclonic seizure", "photomyoclonic seizures" ], "HP:0001328": [ "specific learn disability", "specific learning disability" ], "HP:0007234": [ "specific learn disability", "specific learning disability" ], "HP:0001331": [ "absent septum pellucidum", "absence of septum pellucidum", "absence of the septum pellucidum", "agenesis of the septum pellucidum", "miss septum pellucidum", "missing septum pellucidum" ], "HP:0006969": [ "absent septum pellucidum", "absence of septum pellucidum", "absence of the septum pellucidum", "agenesis of the septum pellucidum", "miss septum pellucidum", "missing septum pellucidum" ], "HP:0001332": [ "dystonia", "dystonic disease", "dystonic movement", "dystonic movements" ], "HP:0002328": [ "dystonia", "dystonic disease", "dystonic movement", "dystonic movements" ], "HP:0001334": [ "communicate hydrocephalus", "communicating hydrocephalus" ], "HP:0001335": [ "bimanual synkinesia", "hand mirror movement", "hand mirror movements", "mirror hand movement", "mirror hand movements", "mirror movement", "mirror movements" ], "HP:0001336": [ "myoclonus", "involuntary jerking movement", "involuntary jerking movements", "jerking", "myoclonic jerk", "myoclonic jerks", "obsolete involuntary jerking movement", "obsolete involuntary jerking movements" ], "HP:0002535": [ "myoclonus", "involuntary jerking movement", "involuntary jerking movements", "jerking", "myoclonic jerk", "myoclonic jerks", "obsolete involuntary jerking movement", "obsolete involuntary jerking movements" ], "HP:0007087": [ "myoclonus", "involuntary jerking movement", "involuntary jerking movements", "jerking", "myoclonic jerk", "myoclonic jerks", "obsolete involuntary jerking movement", "obsolete involuntary jerking movements" ], "HP:0001337": [ "tremor", "tremors" ], "HP:0001295": [ "tremor", "tremors" ], "HP:0001309": [ "tremor", "tremors" ], "HP:0001338": [ "partial agenesis of the corpus callosum", "corpus callosum agenesis , partial", "partial agenesis of corpus callosum", "partial corpus callosum agenesis", "partial or complete agenesis of corpus callosum", "partial or complete agenesis of the corpus callosum", "partial to complete agenesis of corpus callosum", "partial - total agenesis of corpus callosum" ], "HP:0006982": [ "partial agenesis of the corpus callosum", "corpus callosum agenesis , partial", "partial agenesis of corpus callosum", "partial corpus callosum agenesis", "partial or complete agenesis of corpus callosum", "partial or complete agenesis of the corpus callosum", "partial to complete agenesis of corpus callosum", "partial - total agenesis of corpus callosum" ], "HP:0007090": [ "partial agenesis of the corpus callosum", "corpus callosum agenesis , partial", "partial agenesis of corpus callosum", "partial corpus callosum agenesis", "partial or complete agenesis of corpus callosum", "partial or complete agenesis of the corpus callosum", "partial to complete agenesis of corpus callosum", "partial - total agenesis of corpus callosum" ], "HP:0007128": [ "partial agenesis of the corpus callosum", "corpus callosum agenesis , partial", "partial agenesis of corpus callosum", "partial corpus callosum agenesis", "partial or complete agenesis of corpus callosum", "partial or complete agenesis of the corpus callosum", "partial to complete agenesis of corpus callosum", "partial - total agenesis of corpus callosum" ], "HP:0001339": [ "lissencephaly", "few or absent groove in brain", "fewer or absent grooves in brain" ], "HP:0002537": [ "lissencephaly", "few or absent groove in brain", "fewer or absent grooves in brain" ], "HP:0001340": [ "enhancement of the c - reflex" ], "HP:0001341": [ "olfactory lobe agenesis", "olfactory lobe absence" ], "HP:0001342": [ "cerebral hemorrhage", "bleeding in brain", "cerebral haemorrhage", "hemorrhagic stroke", "intracerebral haemorrhage", "intracerebral hemorrhage" ], "HP:0002137": [ "cerebral hemorrhage", "bleeding in brain", "cerebral haemorrhage", "hemorrhagic stroke", "intracerebral haemorrhage", "intracerebral hemorrhage" ], "HP:0001343": [ "kernicterus" ], "HP:0001344": [ "absent speech", "absent speech development", "lack of language development", "lack of speech", "no speech development", "no speech or language development", "nonverbal" ], "HP:0001617": [ "absent speech", "absent speech development", "lack of language development", "lack of speech", "no speech development", "no speech or language development", "nonverbal" ], "HP:0006798": [ "absent speech", "absent speech development", "lack of language development", "lack of speech", "no speech development", "no speech or language development", "nonverbal" ], "HP:0001345": [ "psychotic mentation" ], "HP:0001347": [ "hyperreflexia", "increase deep tendon reflex", "increased deep tendon reflexes", "increase reflex", "increased reflexes" ], "HP:0001282": [ "hyperreflexia", "increase deep tendon reflex", "increased deep tendon reflexes", "increase reflex", "increased reflexes" ], "HP:0006820": [ "hyperreflexia", "increase deep tendon reflex", "increased deep tendon reflexes", "increase reflex", "increased reflexes" ], "HP:0007184": [ "hyperreflexia", "increase deep tendon reflex", "increased deep tendon reflexes", "increase reflex", "increased reflexes" ], "HP:0007318": [ "hyperreflexia", "increase deep tendon reflex", "increased deep tendon reflexes", "increase reflex", "increased reflexes" ], "HP:0001348": [ "brisk reflex", "brisk reflexes", "brisk deep tendon reflex", "brisk deep tendon reflexes" ], "HP:0001349": [ "facial diplegia", "bilateral facial weakness", "facial paresis , bilateral" ], "HP:0005334": [ "facial diplegia", "bilateral facial weakness", "facial paresis , bilateral" ], "HP:0007085": [ "facial diplegia", "bilateral facial weakness", "facial paresis , bilateral" ], "HP:0001350": [ "slur speech", "slurred speech" ], "HP:0001351": [ "jerk - lock premyoclonus spike", "jerk - locked premyoclonus spikes" ], "HP:0001355": [ "megalencephaly", "enlarge brain", "enlarged brain", "macrencephaly" ], "HP:0001357": [ "plagiocephaly", "asymmetry of the posterior cranium", "asymmetry of the posterior head", "asymmetry of the posterior skull", "deformational plagiocephaly", "flat head", "flat head syndrome", "flattening of cranial vault", "flattening of cranium", "flattening of head", "flattening of skull", "positional plagiocephaly", "rhomboid shape cranium", "rhomboid shaped cranium", "rhomboid shape head", "rhomboid shaped head", "rhomboid shape skull", "rhomboid shaped skull" ], "HP:0001121": [ "plagiocephaly", "asymmetry of the posterior cranium", "asymmetry of the posterior head", "asymmetry of the posterior skull", "deformational plagiocephaly", "flat head", "flat head syndrome", "flattening of cranial vault", "flattening of cranium", "flattening of head", "flattening of skull", "positional plagiocephaly", "rhomboid shape cranium", "rhomboid shaped cranium", "rhomboid shape head", "rhomboid shaped head", "rhomboid shape skull", "rhomboid shaped skull" ], "HP:0001360": [ "holoprosencephaly", "single brain ventricle" ], "HP:0009807": [ "holoprosencephaly", "single brain ventricle" ], "HP:0001361": [ "nystagmus - induced head nod", "nystagmus - induced head nodding" ], "HP:0001362": [ "calvarial skull defect", "calvarial defect", "cranial defect", "skull defect" ], "HP:0001363": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0001365": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0004494": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0005448": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0005457": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0005467": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0008492": [ "craniosynostosis", "cranial suture synostosis", "craniostenosis", "craniosyostosis", "deformity of the skull", "early fusion of cranial suture", "early fusion of cranial sutures", "premature closure of cranial suture", "premature closure of cranial sutures", "premature fontanel closure", "premature suture closure" ], "HP:0001367": [ "abnormal joint morphology", "abnormal shape of joint", "abnormal shape of joints", "abnormality of the joint", "abnormality of the joints", "anomaly of the joint", "anomaly of the joints", "joint disease" ], "HP:0001369": [ "arthritis", "joint inflammation" ], "HP:0001370": [ "rheumatoid arthritis" ], "HP:0001371": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0001372": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0001381": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0005053": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0005189": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0005660": [ "flexion contracture", "contracture", "contractures", "flexed joint that can not be straighten", "flexed joint that can not be straightened", "flexion contractures", "flexion contracture of joint", "flexion contractures of joints", "joint contracture", "joint contractures" ], "HP:0001373": [ "joint dislocation", "joint dislocations", "recurrent joint dislocation", "recurrent joint dislocations", "obsolete joint dislocation in young adult", "obsolete joint dislocations in young adult" ], "HP:0002772": [ "joint dislocation", "joint dislocations", "recurrent joint dislocation", "recurrent joint dislocations", "obsolete joint dislocation in young adult", "obsolete joint dislocations in young adult" ], "HP:0005837": [ "joint dislocation", "joint dislocations", "recurrent joint dislocation", "recurrent joint dislocations", "obsolete joint dislocation in young adult", "obsolete joint dislocations in young adult" ], "HP:0001374": [ "congenital hip dislocation", "congenital dislocation of the hip", "congenital dislocation of the hips", "congenital hip anomaly", "congenital hip dislocations", "dislocate hip since birth", "dislocated hip since birth" ], "HP:0001376": [ "limitation of joint mobility", "decrease joint mobility", "decreased joint mobility", "decreased mobility of joint", "decreased mobility of joints", "limited joint mobility", "limited joint motion" ], "HP:0003101": [ "limitation of joint mobility", "decrease joint mobility", "decreased joint mobility", "decreased mobility of joint", "decreased mobility of joints", "limited joint mobility", "limited joint motion" ], "HP:0001377": [ "limited elbow extension", "decrease elbow extension", "decreased elbow extension", "elbow limited extension", "limitation of elbow extension", "limited extension at elbow", "limited extension at elbows", "limited forearm extension", "restrict elbow extension", "restricted elbow extension" ], "HP:0005073": [ "limited elbow extension", "decrease elbow extension", "decreased elbow extension", "elbow limited extension", "limitation of elbow extension", "limited extension at elbow", "limited extension at elbows", "limited forearm extension", "restrict elbow extension", "restricted elbow extension" ], "HP:0001379": [ "obsolete degenerative joint disease", "osteoarthritis", "degenerative joint disease" ], "HP:0001380": [ "obsolete ligamentous laxity", "joint laxity", "hyperlaxity", "joint instability", "joint ligamentous laxity", "lax joint", "lax joints", "ligamentous laxity", "loose - jointedness", "loosejointedness" ], "HP:0001382": [ "joint hypermobility", "double - joint", "double - jointed", "extensible joint", "extensible joints", "flexible joint", "flexible joints", "hyperextensible joint", "hyperextensible joints", "increase joint mobility", "increased joint mobility", "increase mobility of joint", "increased mobility of joints", "joint hyperextensibility" ], "HP:0001378": [ "joint hypermobility", "double - joint", "double - jointed", "extensible joint", "extensible joints", "flexible joint", "flexible joints", "hyperextensible joint", "hyperextensible joints", "increase joint mobility", "increased joint mobility", "increase mobility of joint", "increased mobility of joints", "joint hyperextensibility" ], "HP:0005034": [ "joint hypermobility", "double - joint", "double - jointed", "extensible joint", "extensible joints", "flexible joint", "flexible joints", "hyperextensible joint", "hyperextensible joints", "increase joint mobility", "increased joint mobility", "increase mobility of joint", "increased mobility of joints", "joint hyperextensibility" ], "HP:0001384": [ "abnormal hip joint morphology", "abnormality of the hip joint", "abnormality of the hip joints" ], "HP:0001385": [ "hip dysplasia", "abnormal formation of the hip", "congenital hip dysplasia" ], "HP:0008787": [ "hip dysplasia", "abnormal formation of the hip", "congenital hip dysplasia" ], "HP:0001386": [ "joint swell", "joint swelling" ], "HP:0001387": [ "joint stiffness", "stiff joint", "stiff joints" ], "HP:0002775": [ "joint stiffness", "stiff joint", "stiff joints" ], "HP:0003033": [ "joint stiffness", "stiff joint", "stiff joints" ], "HP:0001388": [ "obsolete ligamentous laxity", "joint laxity", "hyperlaxity", "joint instability", "joint ligamentous laxity", "lax joint", "lax joints", "ligamentous laxity", "loose - jointedness", "loosejointedness" ], "HP:0001383": [ "obsolete ligamentous laxity", "joint laxity", "hyperlaxity", "joint instability", "joint ligamentous laxity", "lax joint", "lax joints", "ligamentous laxity", "loose - jointedness", "loosejointedness" ], "HP:0002771": [ "obsolete ligamentous laxity", "joint laxity", "hyperlaxity", "joint instability", "joint ligamentous laxity", "lax joint", "lax joints", "ligamentous laxity", "loose - jointedness", "loosejointedness" ], "HP:0001392": [ "abnormality of the liver", "abnormal liver", "liver abnormality", "liver disease" ], "HP:0001394": [ "cirrhosis", "hepatic cirrhosis", "liver cirrhosis", "scar tissue replace healthy tissue in the liver", "scar tissue replaces healthy tissue in the liver" ], "HP:0001395": [ "hepatic fibrosis", "liver fibrosis" ], "HP:0001396": [ "cholestasis", "slow or block flow of bile from liver", "slowed or blocked flow of bile from liver" ], "HP:0001397": [ "hepatic steatosis", "fatty infiltration of liver", "fatty liver", "liver steatosis", "steatosis" ], "HP:0002252": [ "hepatic steatosis", "fatty infiltration of liver", "fatty liver", "liver steatosis", "steatosis" ], "HP:0200121": [ "hepatic steatosis", "fatty infiltration of liver", "fatty liver", "liver steatosis", "steatosis" ], "HP:0001399": [ "hepatic failure", "liver failure" ], "HP:0001400": [ "obsolete hepatic abscess due to immunodeficiency", "obsolete hepatic abscesses due to immunodeficiency", "liver abscess", "hepatic abscess" ], "HP:0001401": [ "intrahepatic biliary dysgenesis" ], "HP:0001402": [ "hepatocellular carcinoma", "increase hepatocellular carcinoma risk", "increased hepatocellular carcinoma risk", "increase incidence of hepatocellular carcinoma", "increased incidence of hepatocellular carcinoma" ], "HP:0002899": [ "hepatocellular carcinoma", "increase hepatocellular carcinoma risk", "increased hepatocellular carcinoma risk", "increase incidence of hepatocellular carcinoma", "increased incidence of hepatocellular carcinoma" ], "HP:0003007": [ "hepatocellular carcinoma", "increase hepatocellular carcinoma risk", "increased hepatocellular carcinoma risk", "increase incidence of hepatocellular carcinoma", "increased incidence of hepatocellular carcinoma" ], "HP:0006750": [ "hepatocellular carcinoma", "increase hepatocellular carcinoma risk", "increased hepatocellular carcinoma risk", "increase incidence of hepatocellular carcinoma", "increased incidence of hepatocellular carcinoma" ], "HP:0001403": [ "macrovesicular hepatic steatosis", "macrovesicular steatosis" ], "HP:0001404": [ "hepatocellular necrosis", "death of liver cell", "death of liver cells", "hepatocellular loss" ], "HP:0001405": [ "periportal fibrosis" ], "HP:0001406": [ "intrahepatic cholestasis", "impaired release of bile from liver" ], "HP:0001407": [ "hepatic cyst", "hepatic cysts", "liver cyst", "liver cysts" ], "HP:0001408": [ "bile duct proliferation", "proliferation of bile canaliculus", "proliferation of bile canaliculi" ], "HP:0001409": [ "portal hypertension" ], "HP:0001410": [ "decrease liver function", "decreased liver function", "hepatopathy", "liver dysfunction", "liver dysfunction , mild" ], "HP:0004393": [ "decrease liver function", "decreased liver function", "hepatopathy", "liver dysfunction", "liver dysfunction , mild" ], "HP:0005228": [ "decrease liver function", "decreased liver function", "hepatopathy", "liver dysfunction", "liver dysfunction , mild" ], "HP:0006570": [ "decrease liver function", "decreased liver function", "hepatopathy", "liver dysfunction", "liver dysfunction , mild" ], "HP:0001412": [ "enteroviral hepatitis" ], "HP:0001413": [ "micronodular cirrhosis" ], "HP:0001414": [ "microvesicular hepatic steatosis", "microvesicular steatosis" ], "HP:0001417": [ "x - link inheritance", "x - linked inheritance", "x - link", "x - linked", "x - link form", "x - linked form" ], "HP:0001418": [ "x - link inheritance", "x - linked inheritance", "x - link", "x - linked", "x - link form", "x - linked form" ], "HP:0001419": [ "x - link recessive inheritance", "x - linked recessive inheritance", "x - link recessive", "x - linked recessive" ], "HP:0001421": [ "abnormality of the musculature of the hand", "abnormal hand muscle", "abnormal hand muscles" ], "HP:0001423": [ "x - link dominant inheritance", "x - linked dominant inheritance", "x - link dominant", "x - linked dominant" ], "HP:0001425": [ "heterogeneous", "genetic heterogeneity", "heterogeneity" ], "HP:0001426": [ "multifactorial inheritance", "familial predisposition", "obsolete familial predisposition" ], "HP:0001429": [ "multifactorial inheritance", "familial predisposition", "obsolete familial predisposition" ], "HP:0001472": [ "multifactorial inheritance", "familial predisposition", "obsolete familial predisposition" ], "HP:0001427": [ "mitochondrial inheritance", "mitochondrial" ], "HP:0001431": [ "mitochondrial inheritance", "mitochondrial" ], "HP:0001458": [ "mitochondrial inheritance", "mitochondrial" ], "HP:0001506": [ "mitochondrial inheritance", "mitochondrial" ], "HP:0001428": [ "somatic mutation" ], "HP:0001430": [ "abnormality of the calf musculature", "abnormal calf muscle", "abnormal calf muscles", "abnormality of calf musculature" ], "HP:0004300": [ "abnormality of the calf musculature", "abnormal calf muscle", "abnormal calf muscles", "abnormality of calf musculature" ], "HP:0001433": [ "hepatosplenomegaly", "enlarge liver and spleen", "enlarged liver and spleen" ], "HP:0001435": [ "abnormality of the shoulder girdle musculature", "abnormality of shoulder musculature" ], "HP:0004301": [ "abnormality of the shoulder girdle musculature", "abnormality of shoulder musculature" ], "HP:0001436": [ "abnormality of the foot musculature", "abnormal foot muscle", "abnormal foot muscles" ], "HP:0001437": [ "abnormality of the musculature of the low limb", "abnormality of the musculature of the lower limbs" ], "HP:0001438": [ "abnormal abdomen morphology", "abdomen abnormality", "abnormality of abdomen morphology", "abnormality of abdomen structure", "abnormality of the abdomen" ], "HP:0001440": [ "metatarsal synostosis", "fusion of metatarsal", "fusion of metatarsals", "fusion of the long bone of the foot", "fusion of the long bones of the feet", "synostosis involve metatarsal bone", "synostosis involving metatarsal bones" ], "HP:0004705": [ "metatarsal synostosis", "fusion of metatarsal", "fusion of metatarsals", "fusion of the long bone of the foot", "fusion of the long bones of the feet", "synostosis involve metatarsal bone", "synostosis involving metatarsal bones" ], "HP:0008098": [ "metatarsal synostosis", "fusion of metatarsal", "fusion of metatarsals", "fusion of the long bone of the foot", "fusion of the long bones of the feet", "synostosis involve metatarsal bone", "synostosis involving metatarsal bones" ], "HP:0001441": [ "abnormality of the musculature of the thigh", "abnormal thigh muscle", "abnormal thigh muscles" ], "HP:0001442": [ "somatic mosaicism" ], "HP:0001443": [ "abnormality of the gluteal musculature", "abnormality of glute", "abnormality of glutes" ], "HP:0001444": [ "autosomal dominant somatic cell mutation" ], "HP:0001445": [ "abnormality of the hip - girdle musculature" ], "HP:0001446": [ "abnormality of the musculature of the upper limb", "abnormality of the musculature of the upper limbs", "abnormal upper limb muscle", "abnormal upper limb muscles" ], "HP:0001449": [ "duplication of metatarsal bone", "duplication of metatarsal bones", "duplication of long bone of foot", "duplication of long bones of foot" ], "HP:0001450": [ "y - link inheritance", "y - linked inheritance", "y - link", "y - linked" ], "HP:0001452": [ "autosomal dominant contiguous gene syndrome" ], "HP:0001454": [ "abnormality of the upper arm" ], "HP:0001457": [ "abnormality of the musculature of the upper arm" ], "HP:0001459": [ "1 - 3 toe syndactyly", "web 1st - 3rd toe", "webbed 1st - 3rd toes" ], "HP:0001460": [ "aplasia / hypoplasia involve the skeletal musculature", "aplasia / hypoplasia involving the skeletal musculature", "absent / small skeletal muscle", "absent / small skeletal muscles", "absent / underdevelop skeletal muscle", "absent / underdeveloped skeletal muscles" ], "HP:0001464": [ "aplasia / hypoplasia involve the shoulder musculature", "aplasia / hypoplasia involving the shoulder musculature", "absent / small shoulder muscle", "absent / small shoulder muscles", "absent / underdevelop shoulder muscle", "absent / underdeveloped shoulder muscles" ], "HP:0001465": [ "amyotrophy involve the shoulder musculature", "amyotrophy involving the shoulder musculature", "shoulder muscle degeneration", "wasting of shoulder muscle", "wasting of shoulder muscles" ], "HP:0001466": [ "contiguous gene syndrome" ], "HP:0001467": [ "aplasia / hypoplasia involve the musculature of the upper limb", "aplasia / hypoplasia involving the musculature of the upper limbs", "absent / small upper limb muscle", "absent / small upper limb muscles", "absent / underdevelop upper limb muscle", "absent / underdeveloped upper limb muscles" ], "HP:0001468": [ "aplasia / hypoplasia involve the musculature of the upper arm", "aplasia / hypoplasia involving the musculature of the upper arm", "absent / small upper arm muscle", "absent / small upper arm muscles", "absent / underdevelop upper arm muscle", "absent / underdeveloped upper arm muscles" ], "HP:0001469": [ "abnormal morphology of the pelvis musculature", "abnormality of the musculature of the pelvis" ], "HP:0001470": [ "sex - limited autosomal dominant" ], "HP:0001471": [ "aplasia / hypoplasia of the musculature of the pelvis", "absent / small pelvis muscle", "absent / small pelvis muscles", "absent / underdevelop pelvis muscle", "absent / underdeveloped pelvis muscles" ], "HP:0001473": [ "metatarsal osteolysis", "osteolysis involve metatarsal bone", "osteolysis involving metatarsal bones" ], "HP:0001866": [ "metatarsal osteolysis", "osteolysis involve metatarsal bone", "osteolysis involving metatarsal bones" ], "HP:0001474": [ "sclerotic scapula", "sclerotic scapulae" ], "HP:0001475": [ "male - limited autosomal dominant" ], "HP:0001476": [ "delayed closure of the anterior fontanelle", "delay closure anterior fontanel", "delayed closure anterior fontanel", "delayed closure of anterior fontanelle", "delayed closure of the bregma suture", "delayed closure of the bregma sutures", "delayed closure of the soft spot on the skull", "late closure of anterior fontanelle", "late closure of large anterior fontanel", "late closure of soft spot on the skull", "late closure of the bregma suture", "late closure of the bregma sutures", "later than typical closing of soft spot of skull", "persistent anterior fontanelle" ], "HP:0001477": [ "compensatory chin elevation", "compensatory head tilt / chin elevation" ], "HP:0001480": [ "freckle", "freckling" ], "HP:0001482": [ "subcutaneous nodule", "firm lump under the skin", "growth of abnormal tissue under the skin", "multiple , subcutaneous nodule", "multiple , subcutaneous nodules", "nodule below the skin", "subcutaneous nodules" ], "HP:0005903": [ "subcutaneous nodule", "firm lump under the skin", "growth of abnormal tissue under the skin", "multiple , subcutaneous nodule", "multiple , subcutaneous nodules", "nodule below the skin", "subcutaneous nodules" ], "HP:0001483": [ "eye poking" ], "HP:0001487": [ "obsolete hypopigmented fundus", "obsolete hypopigmented fundi", "hypopigmentation of the fundus", "decrease fundus pigmentation", "decreased fundus pigmentation", "fundus hypopigmentation" ], "HP:0001488": [ "bilateral ptosis", "drooping of both upper eyelid", "drooping of both upper eyelids" ], "HP:0001489": [ "posterior vitreous detachment", "vitreous detachment" ], "HP:0001491": [ "congenital fibrosis of extraocular muscle", "congenital fibrosis of extraocular muscles", "congenital fibrosis of the extraocular muscle", "congenital fibrosis of the extraocular muscles", "congenital ophthalmoplegia" ], "HP:0001492": [ "axenfeld anomaly" ], "HP:0001493": [ "falciform retinal fold", "congenital retinal fold" ], "HP:0008013": [ "falciform retinal fold", "congenital retinal fold" ], "HP:0001495": [ "carpal osteolysis", "carpal bone osteolysis" ], "HP:0001498": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0001209": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0006029": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0006072": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0006117": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0006130": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0006227": [ "carpal bone hypoplasia", "hypoplasia of carpal bone", "hypoplasia of carpal bones", "hypoplastic carpal bone", "hypoplastic carpal bones", "small carpal bone", "small carpal bones", "small carpal", "small carpals", "small wrist bone", "small wrist bones" ], "HP:0001500": [ "broad finger", "broad fingers", "wide finger", "wide fingers" ], "HP:0001497": [ "broad finger", "broad fingers", "wide finger", "wide fingers" ], "HP:0001501": [ "6 metacarpal", "6 metacarpals", "6 long bone of hand", "6 long bones of hand" ], "HP:0001504": [ "metacarpal osteolysis", "metacarpals osteolysis" ], "HP:0001507": [ "growth abnormality", "abnormal growth", "growth issue" ], "HP:0008904": [ "growth abnormality", "abnormal growth", "growth issue" ], "HP:0001508": [ "failure to thrive", "falter weight", "faltering weight", "poor weight gain", "postnatal failure to thrive", "undergrowth", "weight falter", "weight faltering" ], "HP:0001535": [ "failure to thrive", "falter weight", "faltering weight", "poor weight gain", "postnatal failure to thrive", "undergrowth", "weight falter", "weight faltering" ], "HP:0008853": [ "failure to thrive", "falter weight", "faltering weight", "poor weight gain", "postnatal failure to thrive", "undergrowth", "weight falter", "weight faltering" ], "HP:0008878": [ "failure to thrive", "falter weight", "faltering weight", "poor weight gain", "postnatal failure to thrive", "undergrowth", "weight falter", "weight faltering" ], "HP:0008916": [ "failure to thrive", "falter weight", "faltering weight", "poor weight gain", "postnatal failure to thrive", "undergrowth", "weight falter", "weight faltering" ], "HP:0001510": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001434": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001512": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001514": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001517": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001532": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0008847": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0008870": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0008886": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0008893": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0008926": [ "growth delay", "delay growth", "delayed growth", "growth deficiency", "growth failure", "growth retardation", "poor growth", "retarded growth", "very poor growth" ], "HP:0001511": [ "intrauterine growth retardation", "in utero growth retardation", "intrauterine growth failure", "intrauterine growth restriction", "intrauterine growth retardation , iugr", "intrauterine retardation", "prenatal growth deficiency", "prenatal growth failure", "prenatal growth retardation", "prenatal onset growth retardation", "prenatal - onset growth retardation", "small for gestational age infant" ], "HP:0001515": [ "intrauterine growth retardation", "in utero growth retardation", "intrauterine growth failure", "intrauterine growth restriction", "intrauterine growth retardation , iugr", "intrauterine retardation", "prenatal growth deficiency", "prenatal growth failure", "prenatal growth retardation", "prenatal onset growth retardation", "prenatal - onset growth retardation", "small for gestational age infant" ], "HP:0008862": [ "intrauterine growth retardation", "in utero growth retardation", "intrauterine growth failure", "intrauterine growth restriction", "intrauterine growth retardation , iugr", "intrauterine retardation", "prenatal growth deficiency", "prenatal growth failure", "prenatal growth retardation", "prenatal onset growth retardation", "prenatal - onset growth retardation", "small for gestational age infant" ], "HP:0008892": [ "intrauterine growth retardation", "in utero growth retardation", "intrauterine growth failure", "intrauterine growth restriction", "intrauterine growth retardation , iugr", "intrauterine retardation", "prenatal growth deficiency", "prenatal growth failure", "prenatal growth retardation", "prenatal onset growth retardation", "prenatal - onset growth retardation", "small for gestational age infant" ], "HP:0008931": [ "intrauterine growth retardation", "in utero growth retardation", "intrauterine growth failure", "intrauterine growth restriction", "intrauterine growth retardation , iugr", "intrauterine retardation", "prenatal growth deficiency", "prenatal growth failure", "prenatal growth retardation", "prenatal onset growth retardation", "prenatal - onset growth retardation", "small for gestational age infant" ], "HP:0001513": [ "obesity", "have too much body fat", "having too much body fat" ], "HP:0001518": [ "small for gestational age", "birth weight less than 10th percentile", "low birth weight" ], "HP:0001422": [ "small for gestational age", "birth weight less than 10th percentile", "low birth weight" ], "HP:0008849": [ "small for gestational age", "birth weight less than 10th percentile", "low birth weight" ], "HP:0008919": [ "small for gestational age", "birth weight less than 10th percentile", "low birth weight" ], "HP:0008927": [ "small for gestational age", "birth weight less than 10th percentile", "low birth weight" ], "HP:0001519": [ "disproportionate tall stature", "dolichostenomelia", "marfanoid body habitus", "marfanoid habitus", "reduce upper - low segment ratio", "reduced upper - lower segment ratio" ], "HP:0003511": [ "disproportionate tall stature", "dolichostenomelia", "marfanoid body habitus", "marfanoid habitus", "reduce upper - low segment ratio", "reduced upper - lower segment ratio" ], "HP:0008864": [ "disproportionate tall stature", "dolichostenomelia", "marfanoid body habitus", "marfanoid habitus", "reduce upper - low segment ratio", "reduced upper - lower segment ratio" ], "HP:0001520": [ "large for gestational age", "birth weight > 90th percentile", "birthweight > 90th percentile", "fetal macrosomia", "foetal macrosomia", "macrosomia", "macrosomia , neonatal" ], "HP:0001825": [ "large for gestational age", "birth weight > 90th percentile", "birthweight > 90th percentile", "fetal macrosomia", "foetal macrosomia", "macrosomia", "macrosomia , neonatal" ], "HP:0001522": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0003816": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0003817": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0003818": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0003823": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0003827": [ "death in infancy", "death in early childhood", "infantile death", "lethal in infancy" ], "HP:0001525": [ "severe failure to thrive", "marked failure to thrive", "severe falter weight", "severe faltering weight", "severe postnatal failure to thrive", "severe weight faltering" ], "HP:0008876": [ "severe failure to thrive", "marked failure to thrive", "severe falter weight", "severe faltering weight", "severe postnatal failure to thrive", "severe weight faltering" ], "HP:0001528": [ "hemihypertrophy", "asymmetric limb hypertrophy", "asymmetric overgrowth" ], "HP:0006416": [ "hemihypertrophy", "asymmetric limb hypertrophy", "asymmetric overgrowth" ], "HP:0001530": [ "mild postnatal growth retardation", "mild growth deficiency", "postnatal onset of mild growth retardation" ], "HP:0008860": [ "mild postnatal growth retardation", "mild growth deficiency", "postnatal onset of mild growth retardation" ], "HP:0008917": [ "mild postnatal growth retardation", "mild growth deficiency", "postnatal onset of mild growth retardation" ], "HP:0001531": [ "failure to thrive in infancy", "failure to thrive in first year of life", "falter weight in infancy", "faltering weight in infancy", "weight falter in infancy", "weight faltering in infancy" ], "HP:0008863": [ "failure to thrive in infancy", "failure to thrive in first year of life", "falter weight in infancy", "faltering weight in infancy", "weight falter in infancy", "weight faltering in infancy" ], "HP:0008925": [ "failure to thrive in infancy", "failure to thrive in first year of life", "falter weight in infancy", "faltering weight in infancy", "weight falter in infancy", "weight faltering in infancy" ], "HP:0001533": [ "slender build", "asthenic habitus", "thin body habitus", "thin build" ], "HP:0001529": [ "slender build", "asthenic habitus", "thin body habitus", "thin build" ], "HP:0001537": [ "umbilical hernia", "umbilical hernias" ], "HP:0001538": [ "protuberant abdomen", "abdominal protuberance", "belly stick out", "belly sticks out", "extend belly", "extended belly" ], "HP:0001539": [ "omphalocele", "omphalocoele" ], "HP:0001540": [ "diastasis rectus", "diastasis recti", "gap between large left and right abdominal muscle", "gap between large left and right abdominal muscles" ], "HP:0001541": [ "ascites", "accumulation of fluid in the abdomen" ], "HP:0001543": [ "gastroschisis" ], "HP:0001544": [ "prominent umbilicus", "prominent belly button", "prominent navel" ], "HP:0001545": [ "anteriorly place anus", "anteriorly placed anus", "anteriorly displace anus", "anteriorly displaced anus", "anus anteposition" ], "HP:0001547": [ "abnormal rib cage morphology", "abnormality of the rib cage" ], "HP:0001548": [ "overgrowth", "general overgrowth", "generalise overgrowth", "generalised overgrowth", "generalize overgrowth", "generalized overgrowth" ], "HP:0001549": [ "abnormal ileum morphology", "abnormality of the ileum" ], "HP:0001551": [ "abnormal umbilicus morphology", "abnormal belly button", "abnormal navel", "abnormal umbilicus" ], "HP:0001552": [ "barrel - shape chest", "barrel - shaped chest", "barrel chest" ], "HP:0000781": [ "barrel - shape chest", "barrel - shaped chest", "barrel chest" ], "HP:0001553": [ "barrel - shape chest", "barrel - shaped chest", "barrel chest" ], "HP:0001555": [ "asymmetry of the thorax", "asymmetric chest" ], "HP:0001557": [ "prenatal movement abnormality", "abnormal intrauterine movement", "abnormal intrauterine movements" ], "HP:0007629": [ "prenatal movement abnormality", "abnormal intrauterine movement", "abnormal intrauterine movements" ], "HP:0001558": [ "decrease fetal movement", "decreased fetal movement", "decreased fetal activity", "decreased fetal movements", "decreased foetal activity", "decrease foetal movement", "decreased foetal movement", "decreased foetal movements", "decrease movement in utero", "decreased movement in utero", "fetal hypokinesia", "foetal hypokinesia", "less than 10 fetal movement in 12 hour", "less than 10 fetal movements in 12 hours", "less than 10 foetal movement in 12 hour", "less than 10 foetal movements in 12 hours", "reduce fetal movement", "reduced fetal movement", "reduced fetal movements", "reduce foetal movement", "reduced foetal movement", "reduced foetal movements" ], "HP:0001559": [ "decrease fetal movement", "decreased fetal movement", "decreased fetal activity", "decreased fetal movements", "decreased foetal activity", "decrease foetal movement", "decreased foetal movement", "decreased foetal movements", "decrease movement in utero", "decreased movement in utero", "fetal hypokinesia", "foetal hypokinesia", "less than 10 fetal movement in 12 hour", "less than 10 fetal movements in 12 hours", "less than 10 foetal movement in 12 hour", "less than 10 foetal movements in 12 hours", "reduce fetal movement", "reduced fetal movement", "reduced fetal movements", "reduce foetal movement", "reduced foetal movement", "reduced foetal movements" ], "HP:0006840": [ "decrease fetal movement", "decreased fetal movement", "decreased fetal activity", "decreased fetal movements", "decreased foetal activity", "decrease foetal movement", "decreased foetal movement", "decreased foetal movements", "decrease movement in utero", "decreased movement in utero", "fetal hypokinesia", "foetal hypokinesia", "less than 10 fetal movement in 12 hour", "less than 10 fetal movements in 12 hours", "less than 10 foetal movement in 12 hour", "less than 10 foetal movements in 12 hours", "reduce fetal movement", "reduced fetal movement", "reduced fetal movements", "reduce foetal movement", "reduced foetal movement", "reduced foetal movements" ], "HP:0007630": [ "decrease fetal movement", "decreased fetal movement", "decreased fetal activity", "decreased fetal movements", "decreased foetal activity", "decrease foetal movement", "decreased foetal movement", "decreased foetal movements", "decrease movement in utero", "decreased movement in utero", "fetal hypokinesia", "foetal hypokinesia", "less than 10 fetal movement in 12 hour", "less than 10 fetal movements in 12 hours", "less than 10 foetal movement in 12 hour", "less than 10 foetal movements in 12 hours", "reduce fetal movement", "reduced fetal movement", "reduced fetal movements", "reduce foetal movement", "reduced foetal movement", "reduced foetal movements" ], "HP:0007631": [ "decrease fetal movement", "decreased fetal movement", "decreased fetal activity", "decreased fetal movements", "decreased foetal activity", "decrease foetal movement", "decreased foetal movement", "decreased foetal movements", "decrease movement in utero", "decreased movement in utero", "fetal hypokinesia", "foetal hypokinesia", "less than 10 fetal movement in 12 hour", "less than 10 fetal movements in 12 hours", "less than 10 foetal movement in 12 hour", "less than 10 foetal movements in 12 hours", "reduce fetal movement", "reduced fetal movement", "reduced fetal movements", "reduce foetal movement", "reduced foetal movement", "reduced foetal movements" ], "HP:0001560": [ "abnormality of the amniotic fluid", "abnormal amniotic fluid" ], "HP:0001561": [ "polyhydramnios", "high level of amniotic fluid", "high levels of amniotic fluid", "hydramnios" ], "HP:0005098": [ "polyhydramnios", "high level of amniotic fluid", "high levels of amniotic fluid", "hydramnios" ], "HP:0001562": [ "oligohydramnios", "low level of amniotic fluid", "low levels of amniotic fluid", "maternal oligohydramnios" ], "HP:0004638": [ "oligohydramnios", "low level of amniotic fluid", "low levels of amniotic fluid", "maternal oligohydramnios" ], "HP:0001563": [ "fetal polyuria", "foetal polyuria" ], "HP:0001566": [ "widely - space maxillary central incisor", "widely - spaced maxillary central incisors", "central incisor gap", "diastasis of the central incisor", "diastasis of the central incisors", "diastema between maxillary central incisor", "diastema between maxillary central incisors", "diastema between upper front teeth", "diastema between upper incisor", "diastema between upper incisors", "gap between upper front teeth", "separate superior central incisor", "separated superior central incisors", "wide gap between upper central incisor", "wide gap between upper central incisors", "wide upper central incisor", "wide upper central incisors", "widely space upper incisor", "widely spaced upper incisors" ], "HP:0000669": [ "widely - space maxillary central incisor", "widely - spaced maxillary central incisors", "central incisor gap", "diastasis of the central incisor", "diastasis of the central incisors", "diastema between maxillary central incisor", "diastema between maxillary central incisors", "diastema between upper front teeth", "diastema between upper incisor", "diastema between upper incisors", "gap between upper front teeth", "separate superior central incisor", "separated superior central incisors", "wide gap between upper central incisor", "wide gap between upper central incisors", "wide upper central incisor", "wide upper central incisors", "widely space upper incisor", "widely spaced upper incisors" ], "HP:0001570": [ "widely - space maxillary central incisor", "widely - spaced maxillary central incisors", "central incisor gap", "diastasis of the central incisor", "diastasis of the central incisors", "diastema between maxillary central incisor", "diastema between maxillary central incisors", "diastema between upper front teeth", "diastema between upper incisor", "diastema between upper incisors", "gap between upper front teeth", "separate superior central incisor", "separated superior central incisors", "wide gap between upper central incisor", "wide gap between upper central incisors", "wide upper central incisor", "wide upper central incisors", "widely space upper incisor", "widely spaced upper incisors" ], "HP:0006300": [ "widely - space maxillary central incisor", "widely - spaced maxillary central incisors", "central incisor gap", "diastasis of the central incisor", "diastasis of the central incisors", "diastema between maxillary central incisor", "diastema between maxillary central incisors", "diastema between upper front teeth", "diastema between upper incisor", "diastema between upper incisors", "gap between upper front teeth", "separate superior central incisor", "separated superior central incisors", "wide gap between upper central incisor", "wide gap between upper central incisors", "wide upper central incisor", "wide upper central incisors", "widely space upper incisor", "widely spaced upper incisors" ], "HP:0006324": [ "widely - space maxillary central incisor", "widely - spaced maxillary central incisors", "central incisor gap", "diastasis of the central incisor", "diastasis of the central incisors", "diastema between maxillary central incisor", "diastema between maxillary central incisors", "diastema between upper front teeth", "diastema between upper incisor", "diastema between upper incisors", "gap between upper front teeth", "separate superior central incisor", "separated superior central incisors", "wide gap between upper central incisor", "wide gap between upper central incisors", "wide upper central incisor", "wide upper central incisors", "widely space upper incisor", "widely spaced upper incisors" ], "HP:0001571": [ "multiple impacted teeth", "impact teeth", "impacted teeth", "multiple bury teeth", "multiple buried teeth", "multiple retain teeth", "multiple retained teeth" ], "HP:0001572": [ "macrodontia", "hyperplasia of tooth", "hypertrophy of tooth", "increase size of tooth", "increased size of tooth", "increase width of tooth", "increased width of tooth", "large tooth", "megalodontia", "tooth mass excess" ], "HP:0001574": [ "abnormality of the integument" ], "HP:0001579": [ "primary hypercortisolism", "acth - independent hypercortisolemia" ], "HP:0001580": [ "pigment micronodular adrenocortical disease", "pigmented micronodular adrenocortical disease" ], "HP:0001581": [ "recurrent skin infection", "recurrent skin infections", "cutaneous infection", "cutaneous infections", "skin infection , recurrent", "skin infections , recurrent" ], "HP:0007563": [ "recurrent skin infection", "recurrent skin infections", "cutaneous infection", "cutaneous infections", "skin infection , recurrent", "skin infections , recurrent" ], "HP:0001582": [ "redundant skin", "loose redundant skin", "redundant skin fold", "redundant skin folds", "sagging , redundant skin" ], "HP:0007391": [ "redundant skin", "loose redundant skin", "redundant skin fold", "redundant skin folds", "sagging , redundant skin" ], "HP:0001583": [ "rotary nystagmus", "rotatory nystagmus" ], "HP:0001586": [ "vesicovaginal fistula" ], "HP:0001587": [ "obsolete primary ovarian failure", "premature ovarian insufficiency", "climacterium praecox", "early menopause", "hypergonadotropic amenorrhea", "menopause praecox", "premature menopause", "premature ovarian failure", "primary ovarian insufficiency" ], "HP:0001591": [ "bell - shape thorax", "bell - shaped thorax", "bell - shape chest", "bell - shaped chest", "constrict , bell - shape thorax", "constricted , bell - shaped thorax", "narrow , bell - shape thorax", "narrow , bell - shaped thorax" ], "HP:0006626": [ "bell - shape thorax", "bell - shaped thorax", "bell - shape chest", "bell - shaped chest", "constrict , bell - shape thorax", "constricted , bell - shaped thorax", "narrow , bell - shape thorax", "narrow , bell - shaped thorax" ], "HP:0006664": [ "bell - shape thorax", "bell - shaped thorax", "bell - shape chest", "bell - shaped chest", "constrict , bell - shape thorax", "constricted , bell - shaped thorax", "narrow , bell - shape thorax", "narrow , bell - shaped thorax" ], "HP:0001592": [ "selective tooth agenesis", "absence of a tooth", "agenesis of a tooth", "failure of development of a tooth", "miss a tooth", "missing a tooth" ], "HP:0001593": [ "maxillary lateral incisor microdontia", "decreased size of maxillary lateral incisor", "decreased size of upper lateral incisor", "decrease width of upper lateral incisor", "decreased width of upper lateral incisor", "hypotrophic maxillary lateral incisor", "hypotrophic upper lateral incisor", "small maxillary lateral incisor", "small upper lateral incisor" ], "HP:0001595": [ "abnormal hair morphology", "abnormality of the hair", "abnormality of the hair shaft", "hair abnormality" ], "HP:0001596": [ "alopecia", "hair loss" ], "HP:0002238": [ "alopecia", "hair loss" ], "HP:0008068": [ "alopecia", "hair loss" ], "HP:0001597": [ "abnormality of the nail", "nail disease" ], "HP:0001598": [ "concave nail", "koilonychia", "spoon - shape nail", "spoon - shaped nails" ], "HP:0001815": [ "concave nail", "koilonychia", "spoon - shape nail", "spoon - shaped nails" ], "HP:0001600": [ "abnormality of the larynx", "laryngeal abnormality", "laryngeal abnormalities", "laryngeal anomaly", "laryngeal anomalies" ], "HP:0001601": [ "laryngomalacia", "softening of voice box tissue" ], "HP:0001602": [ "laryngeal stenosis" ], "HP:0001604": [ "vocal cord paresis", "hoarse voice due to vocal cord paresis", "vocal cord paresis in severe case", "vocal cord paresis in severe cases", "weakness of the vocal cord", "weakness of the vocal cords" ], "HP:0001603": [ "vocal cord paresis", "hoarse voice due to vocal cord paresis", "vocal cord paresis in severe case", "vocal cord paresis in severe cases", "weakness of the vocal cord", "weakness of the vocal cords" ], "HP:0001616": [ "vocal cord paresis", "hoarse voice due to vocal cord paresis", "vocal cord paresis in severe case", "vocal cord paresis in severe cases", "weakness of the vocal cord", "weakness of the vocal cords" ], "HP:0008745": [ "vocal cord paresis", "hoarse voice due to vocal cord paresis", "vocal cord paresis in severe case", "vocal cord paresis in severe cases", "weakness of the vocal cord", "weakness of the vocal cords" ], "HP:0001605": [ "vocal cord paralysis", "inability to move vocal cord", "inability to move vocal cords", "laryngeal paralysis", "obsolete vocal cord paralysis ( cause by tumor impingement )", "obsolete vocal cord paralysis ( caused by tumor impingement )" ], "HP:0001606": [ "vocal cord paralysis", "inability to move vocal cord", "inability to move vocal cords", "laryngeal paralysis", "obsolete vocal cord paralysis ( cause by tumor impingement )", "obsolete vocal cord paralysis ( caused by tumor impingement )" ], "HP:0006847": [ "vocal cord paralysis", "inability to move vocal cord", "inability to move vocal cords", "laryngeal paralysis", "obsolete vocal cord paralysis ( cause by tumor impingement )", "obsolete vocal cord paralysis ( caused by tumor impingement )" ], "HP:0001607": [ "subglottic stenosis" ], "HP:0001608": [ "abnormality of the voice", "voice abnormality" ], "HP:0001609": [ "hoarse voice", "hoarseness", "husky voice", "obsolete hoarse voice ( cause by tumor impingement )", "obsolete hoarse voice ( caused by tumor impingement )" ], "HP:0001613": [ "hoarse voice", "hoarseness", "husky voice", "obsolete hoarse voice ( cause by tumor impingement )", "obsolete hoarse voice ( caused by tumor impingement )" ], "HP:0001619": [ "hoarse voice", "hoarseness", "husky voice", "obsolete hoarse voice ( cause by tumor impingement )", "obsolete hoarse voice ( caused by tumor impingement )" ], "HP:0001611": [ "nasal speech", "hypernasal speech", "hypernasal voice", "nasal voice" ], "HP:0001614": [ "nasal speech", "hypernasal speech", "hypernasal voice", "nasal voice" ], "HP:0001612": [ "weak cry" ], "HP:0001615": [ "hoarse cry" ], "HP:0001618": [ "dysphonia", "inability to produce voice sound", "inability to produce voice sounds", "voice change" ], "HP:0001620": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0001610": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0008374": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0008377": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0008378": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0008379": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0009146": [ "high pitch voice", "high pitched voice", "high - pitched voice" ], "HP:0001621": [ "weak voice", "hypophonia", "soft voice" ], "HP:0001622": [ "premature birth", "premature delivery", "premature delivery of affected infant", "premature delivery of affected infants", "preterm delivery", "shorten gestation time", "shortened gestation time" ], "HP:0001623": [ "breech presentation", "breech presentation at birth", "foot or buttock of fetus position near opening of uterus", "feet or buttocks of fetus positioned near opening of uterus", "foot or buttock of foetus position near opening of uterus", "feet or buttocks of foetus positioned near opening of uterus" ], "HP:0001626": [ "abnormality of the cardiovascular system", "cardiovascular abnormality", "cardiovascular disease" ], "HP:0001627": [ "abnormal heart morphology", "abnormality of cardiac morphology", "abnormality of the heart", "abnormally shaped heart", "cardiac abnormality", "cardiac anomaly", "cardiac anomalies", "congenital heart defect", "congenital heart defects", "heart defect", "obsolete abnormal heart morphology" ], "HP:3000001": [ "abnormal heart morphology", "abnormality of cardiac morphology", "abnormality of the heart", "abnormally shaped heart", "cardiac abnormality", "cardiac anomaly", "cardiac anomalies", "congenital heart defect", "congenital heart defects", "heart defect", "obsolete abnormal heart morphology" ], "HP:0001629": [ "ventricular septal defect", "hole in heart wall separate two low heart chamber", "hole in heart wall separating two lower heart chambers", "ventricular septal defects", "ventriculoseptal defect" ], "HP:0001652": [ "ventricular septal defect", "hole in heart wall separate two low heart chamber", "hole in heart wall separating two lower heart chambers", "ventricular septal defects", "ventriculoseptal defect" ], "HP:0001631": [ "atrial septal defect", "an opening in the wall separate the top two chamber of the heart", "an opening in the wall separating the top two chambers of the heart", "atrium septal defect", "atria septal defect", "atrial septum defect", "atrioseptal defect", "defect in the atrial septum", "hole in heart wall separate two upper heart chamber", "hole in heart wall separating two upper heart chambers" ], "HP:0001630": [ "atrial septal defect", "an opening in the wall separate the top two chamber of the heart", "an opening in the wall separating the top two chambers of the heart", "atrium septal defect", "atria septal defect", "atrial septum defect", "atrioseptal defect", "defect in the atrial septum", "hole in heart wall separate two upper heart chamber", "hole in heart wall separating two upper heart chambers" ], "HP:0001633": [ "abnormal mitral valve morphology", "abnormality of the mitral valve", "obsolete abnormal mitral valve morphology" ], "HP:0031477": [ "abnormal mitral valve morphology", "abnormality of the mitral valve", "obsolete abnormal mitral valve morphology" ], "HP:0001634": [ "mitral valve prolapse" ], "HP:0001635": [ "congestive heart failure", "cardiac failure", "cardiac failures", "cardiac insufficiency", "chronic heart failure", "heart failure" ], "HP:0006686": [ "congestive heart failure", "cardiac failure", "cardiac failures", "cardiac insufficiency", "chronic heart failure", "heart failure" ], "HP:0001636": [ "tetralogy of fallot", "tetrology of fallot" ], "HP:0001637": [ "abnormal myocardium morphology", "abnormality of the myocardium" ], "HP:0001638": [ "cardiomyopathy", "disease of the heart muscle" ], "HP:0001639": [ "hypertrophic cardiomyopathy", "cardiomyopathy , hypertrophic", "enlarge and thicken heart muscle", "enlarged and thickened heart muscle" ], "HP:0001640": [ "cardiomegaly", "enlarge heart", "enlarged heart", "increase heart size", "increased heart size" ], "HP:0001641": [ "abnormal pulmonary valve morphology", "abnormality of the pulmonary valve", "anomaly of the pulmonary valve" ], "HP:0001642": [ "pulmonic stenosis", "narrowing of pulmonic valve", "pulmonary stenosis", "pulmonary valve stenosis", "pulmonic valve stenosis" ], "HP:0001643": [ "patent ductus arteriosus", "ductus arteriosus", "persistent arterial duct", "persistent ductus arteriosus" ], "HP:0001644": [ "dilate cardiomyopathy", "dilated cardiomyopathy", "cardiomyopathy , dilate", "cardiomyopathy , dilated", "congestive cardiomyopathy", "stretch and thin heart muscle", "stretched and thinned heart muscle" ], "HP:0001725": [ "dilate cardiomyopathy", "dilated cardiomyopathy", "cardiomyopathy , dilate", "cardiomyopathy , dilated", "congestive cardiomyopathy", "stretch and thin heart muscle", "stretched and thinned heart muscle" ], "HP:0005159": [ "dilate cardiomyopathy", "dilated cardiomyopathy", "cardiomyopathy , dilate", "cardiomyopathy , dilated", "congestive cardiomyopathy", "stretch and thin heart muscle", "stretched and thinned heart muscle" ], "HP:0200130": [ "dilate cardiomyopathy", "dilated cardiomyopathy", "cardiomyopathy , dilate", "cardiomyopathy , dilated", "congestive cardiomyopathy", "stretch and thin heart muscle", "stretched and thinned heart muscle" ], "HP:0001645": [ "sudden cardiac death", "premature sudden cardiac death" ], "HP:0005161": [ "sudden cardiac death", "premature sudden cardiac death" ], "HP:0001646": [ "abnormal aortic valve morphology", "abnormality of the aortic valve" ], "HP:0001647": [ "bicuspid aortic valve", "aortic valve have two leaflet rather than three", "aortic valve has two leaflets rather than three" ], "HP:0001648": [ "cor pulmonale" ], "HP:0001649": [ "tachycardia", "elevate heart rate", "elevated heart rate", "fast heart rate", "heart race", "heart racing", "increase heart rate", "increased heart rate", "race heart", "racing heart", "rapid heart beat", "obsolete tachycardia ( with pheochromocytoma )" ], "HP:0001673": [ "tachycardia", "elevate heart rate", "elevated heart rate", "fast heart rate", "heart race", "heart racing", "increase heart rate", "increased heart rate", "race heart", "racing heart", "rapid heart beat", "obsolete tachycardia ( with pheochromocytoma )" ], "HP:0001720": [ "tachycardia", "elevate heart rate", "elevated heart rate", "fast heart rate", "heart race", "heart racing", "increase heart rate", "increased heart rate", "race heart", "racing heart", "rapid heart beat", "obsolete tachycardia ( with pheochromocytoma )" ], "HP:0001650": [ "aortic valve stenosis", "aortic stenosis", "narrowing of aortic valve", "valvular aortic stenosis" ], "HP:0005140": [ "aortic valve stenosis", "aortic stenosis", "narrowing of aortic valve", "valvular aortic stenosis" ], "HP:0001651": [ "dextrocardia", "heart tip and four chamber point towards right side of body", "heart tip and four chambers point towards right side of body", "thoracic situs inversus" ], "HP:0001653": [ "mitral regurgitation", "mitral incompetence", "mitral insufficiency", "mitral regurgitation , mild", "mitral valve insufficiency", "mitral valve regurgitation" ], "HP:0001654": [ "abnormal heart valve morphology", "abnormality of the heart valve", "abnormality of the heart valves", "valvular abnormality", "valvular heart disease" ], "HP:0001703": [ "abnormal heart valve morphology", "abnormality of the heart valve", "abnormality of the heart valves", "valvular abnormality", "valvular heart disease" ], "HP:0001655": [ "patent foramen ovale", "persistent foramen ovale" ], "HP:0001657": [ "prolonged qt interval", "long q - t syndrome", "long qt syndrome", "prolong qt interval on ekg" ], "HP:0001658": [ "myocardial infarction", "heart attack" ], "HP:0001659": [ "aortic regurgitation", "aortic insufficiency", "aortic valve regurgitation" ], "HP:0001660": [ "truncus arteriosus", "common arterial trunk", "persistant truncus arteriosus" ], "HP:0001662": [ "bradycardia", "brachycardia", "slow heartbeat", "slow heartbeats" ], "HP:0001663": [ "ventricular fibrillation" ], "HP:0005166": [ "ventricular fibrillation" ], "HP:0001664": [ "torsade de pointes", "torsades de pointes" ], "HP:0001667": [ "right ventricular hypertrophy", "heart right ventricle hypertrophy" ], "HP:0001669": [ "transposition of the great artery", "transposition of the great arteries", "transposition of great vessel", "transposition of great vessels" ], "HP:0001670": [ "asymmetric septal hypertrophy" ], "HP:0001671": [ "abnormal cardiac septum morphology", "abnormality of the cardiac septum", "abnormality of the cardiac septa", "heart septal defect", "septal defect", "septal defects", "obsolete congenital septal defect" ], "HP:0001690": [ "abnormal cardiac septum morphology", "abnormality of the cardiac septum", "abnormality of the cardiac septa", "heart septal defect", "septal defect", "septal defects", "obsolete congenital septal defect" ], "HP:0004760": [ "abnormal cardiac septum morphology", "abnormality of the cardiac septum", "abnormality of the cardiac septa", "heart septal defect", "septal defect", "septal defects", "obsolete congenital septal defect" ], "HP:0001674": [ "complete atrioventricular canal defect", "atrioventricular canal", "common atrioventricular canal", "complete atrioventricular septal defect", "complete common av canal" ], "HP:0001689": [ "complete atrioventricular canal defect", "atrioventricular canal", "common atrioventricular canal", "complete atrioventricular septal defect", "complete common av canal" ], "HP:0006697": [ "complete atrioventricular canal defect", "atrioventricular canal", "common atrioventricular canal", "complete atrioventricular septal defect", "complete common av canal" ], "HP:0001675": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001676": [ "obsolete palpitation ( with pheochromocytoma )", "obsolete palpitations ( with pheochromocytoma )", "palpitation", "palpitations", "heart palpitation", "heart palpitations", "missed heart beat", "skipped heart beat" ], "HP:0001677": [ "coronary artery atherosclerosis", "coronary atherosclerosis", "coronary disease", "plaque build - up in artery supply blood to heart", "plaque build - up in arteries supplying blood to heart", "obsolete coronary atherosclerosis" ], "HP:0004929": [ "coronary artery atherosclerosis", "coronary atherosclerosis", "coronary disease", "plaque build - up in artery supply blood to heart", "plaque build - up in arteries supplying blood to heart", "obsolete coronary atherosclerosis" ], "HP:0005138": [ "coronary artery atherosclerosis", "coronary atherosclerosis", "coronary disease", "plaque build - up in artery supply blood to heart", "plaque build - up in arteries supplying blood to heart", "obsolete coronary atherosclerosis" ], "HP:0001678": [ "atrioventricular block", "atrioventricular nodal disease", "interruption of electrical communication between upper and low chamber of heart", "interruption of electrical communication between upper and lower chambers of heart" ], "HP:0001668": [ "atrioventricular block", "atrioventricular nodal disease", "interruption of electrical communication between upper and low chamber of heart", "interruption of electrical communication between upper and lower chambers of heart" ], "HP:0005142": [ "atrioventricular block", "atrioventricular nodal disease", "interruption of electrical communication between upper and low chamber of heart", "interruption of electrical communication between upper and lower chambers of heart" ], "HP:0006672": [ "atrioventricular block", "atrioventricular nodal disease", "interruption of electrical communication between upper and low chamber of heart", "interruption of electrical communication between upper and lower chambers of heart" ], "HP:0001679": [ "abnormal aortic morphology", "abnormal aorta morphology", "abnormality of the aorta", "obsolete abnormal aortic morphology" ], "HP:0030963": [ "abnormal aortic morphology", "abnormal aorta morphology", "abnormality of the aorta", "obsolete abnormal aortic morphology" ], "HP:0001680": [ "coarctation of aorta", "aortic coarctation", "coarctation of the aorta", "narrowing of aorta", "narrowing of the aorta" ], "HP:0001681": [ "angina pectoris" ], "HP:0001682": [ "subvalvular aortic stenosis", "narrowing of blood vessel below aortic heart valve", "subaortic stenosis" ], "HP:0001683": [ "ectopia cordis" ], "HP:0001684": [ "secundum atrial septal defect", "atrial septal defect , ostium secundum type", "ostium secundum atrial septal defect", "patent ostium secundum" ], "HP:0200131": [ "secundum atrial septal defect", "atrial septal defect , ostium secundum type", "ostium secundum atrial septal defect", "patent ostium secundum" ], "HP:0001685": [ "myocardial fibrosis" ], "HP:0001686": [ "loss of voice", "aphonia" ], "HP:0001688": [ "sinus bradycardia" ], "HP:0005137": [ "sinus bradycardia" ], "HP:0001691": [ "muscular subvalvular aortic stenosis", "muscular subaortic stenosis" ], "HP:0001692": [ "atrial arrhythmia", "primary atrial arrhythmia" ], "HP:0001693": [ "cardiac shunt" ], "HP:0001694": [ "right - to - left shunt" ], "HP:0001695": [ "cardiac arrest", "heart stop beat", "heart stops beating" ], "HP:0001696": [ "situs inversus totalis", "all organ on wrong side of body", "all organs on wrong side of body", "situs inversus", "situs oppositus", "situs transversus" ], "HP:0001697": [ "abnormal pericardium morphology", "abnormality of the pericardium" ], "HP:0001698": [ "pericardial effusion", "fluid around heart", "pericardial effusions" ], "HP:0001699": [ "sudden death" ], "HP:0001700": [ "myocardial necrosis" ], "HP:0001701": [ "pericarditis", "swell or irritation of membrane around heart", "swelling or irritation of membrane around heart" ], "HP:0001702": [ "abnormal tricuspid valve morphology", "abnormality of the tricuspid valve", "obsolete abnormal tricuspid valve morphology" ], "HP:0031440": [ "abnormal tricuspid valve morphology", "abnormality of the tricuspid valve", "obsolete abnormal tricuspid valve morphology" ], "HP:0001704": [ "tricuspid valve prolapse" ], "HP:0001705": [ "right ventricular outlet tract obstruction", "right ventricular outlet obstruction" ], "HP:0001706": [ "endocardial fibroelastosis" ], "HP:0001707": [ "abnormal right ventricle morphology", "abnormality of the right ventricle", "right ventricular abnormality" ], "HP:0001708": [ "right ventricular failure", "impaired right ventricular function", "right ventricular impairment", "right - side heart failure", "right - sided heart failure" ], "HP:0001709": [ "third degree atrioventricular block", "complete heart block", "third - degree heart block" ], "HP:0001710": [ "conotruncal defect", "conotruncal heart defect", "conotruncal heart defects" ], "HP:0001711": [ "abnormal leave ventricle morphology", "abnormal left ventricle morphology", "abnormal heart leave ventricle morphology", "abnormal heart left ventricle morphology", "abnormality of the left ventricle", "leave ventricular abnormality", "left ventricular abnormality" ], "HP:0001712": [ "leave ventricular hypertrophy", "left ventricular hypertrophy", "heart leave ventricle hypertrophy", "heart left ventricle hypertrophy", "leave ventricular wall hypertrophy", "left ventricular wall hypertrophy" ], "HP:0005171": [ "leave ventricular hypertrophy", "left ventricular hypertrophy", "heart leave ventricle hypertrophy", "heart left ventricle hypertrophy", "leave ventricular wall hypertrophy", "left ventricular wall hypertrophy" ], "HP:0001713": [ "abnormal cardiac ventricle morphology", "abnormality of cardiac ventricle" ], "HP:0001714": [ "ventricular hypertrophy" ], "HP:0005167": [ "ventricular hypertrophy" ], "HP:0001716": [ "wolff - parkinson - white syndrome" ], "HP:0001717": [ "coronary artery calcification" ], "HP:0001718": [ "mitral stenosis", "mitral valve stenosis" ], "HP:0005163": [ "mitral stenosis", "mitral valve stenosis" ], "HP:0001719": [ "double outlet right ventricle", "double - outlet right ventricle" ], "HP:0001722": [ "high - output congestive heart failure" ], "HP:0001723": [ "restrictive cardiomyopathy", "obsolete restrictive heart failure" ], "HP:0005130": [ "restrictive cardiomyopathy", "obsolete restrictive heart failure" ], "HP:0001724": [ "obsolete aortic dilatation", "aortic aneurysm", "aortic dilatation", "bulge in wall of large artery that carry blood away from heart", "bulge in wall of large artery that carries blood away from heart" ], "HP:0001726": [ "obsolete increase prevalence of valvular disease", "obsolete increased prevalence of valvular disease" ], "HP:0001727": [ "thromboembolic stroke" ], "HP:0001730": [ "progressive hearing impairment", "progressive hearing loss" ], "HP:0008590": [ "progressive hearing impairment", "progressive hearing loss" ], "HP:0001732": [ "abnormality of the pancreas", "pancreatic disease" ], "HP:0001733": [ "pancreatitis", "pancreatic inflammation" ], "HP:0001734": [ "annular pancreas" ], "HP:0001735": [ "acute pancreatitis", "acute pancreatic inflammation", "pancreatitis , acute" ], "HP:0004512": [ "acute pancreatitis", "acute pancreatic inflammation", "pancreatitis , acute" ], "HP:0001737": [ "pancreatic cyst", "pancreatic cysts", "multiple pancreatic cyst", "multiple pancreatic cysts" ], "HP:0001738": [ "exocrine pancreatic insufficiency", "inability to properly digest food due to lack of pancreatic digestive enzyme", "inability to properly digest food due to lack of pancreatic digestive enzymes", "pancreatic insufficiency" ], "HP:0002581": [ "exocrine pancreatic insufficiency", "inability to properly digest food due to lack of pancreatic digestive enzyme", "inability to properly digest food due to lack of pancreatic digestive enzymes", "pancreatic insufficiency" ], "HP:0004508": [ "exocrine pancreatic insufficiency", "inability to properly digest food due to lack of pancreatic digestive enzyme", "inability to properly digest food due to lack of pancreatic digestive enzymes", "pancreatic insufficiency" ], "HP:0004509": [ "exocrine pancreatic insufficiency", "inability to properly digest food due to lack of pancreatic digestive enzyme", "inability to properly digest food due to lack of pancreatic digestive enzymes", "pancreatic insufficiency" ], "HP:0001739": [ "abnormal nasopharynx morphology", "abnormality of the nasopharynx" ], "HP:0001741": [ "phimosis" ], "HP:0001742": [ "nasal congestion", "blockage of nose", "congestion of nose", "nasal blockage", "nasal obstruction", "obstruction of nose", "stuffy nose" ], "HP:0001743": [ "abnormality of the spleen" ], "HP:0001744": [ "splenomegaly", "increase spleen size", "increased spleen size" ], "HP:0001745": [ "splenomegaly", "increase spleen size", "increased spleen size" ], "HP:0006269": [ "splenomegaly", "increase spleen size", "increased spleen size" ], "HP:0001746": [ "asplenia", "absent spleen" ], "HP:0001747": [ "accessory spleen" ], "HP:0001748": [ "polysplenia", "accessory spleen", "accessory spleens", "multiple accessory spleen", "multiple accessory spleens", "multiple small spleen", "multiple small spleens" ], "HP:0001749": [ "polysplenia", "accessory spleen", "accessory spleens", "multiple accessory spleen", "multiple accessory spleens", "multiple small spleen", "multiple small spleens" ], "HP:0006271": [ "polysplenia", "accessory spleen", "accessory spleens", "multiple accessory spleen", "multiple accessory spleens", "multiple small spleen", "multiple small spleens" ], "HP:0006272": [ "polysplenia", "accessory spleen", "accessory spleens", "multiple accessory spleen", "multiple accessory spleens", "multiple small spleen", "multiple small spleens" ], "HP:0001750": [ "single ventricle", "common ventricle" ], "HP:0001751": [ "vestibular dysfunction", "impaired vestibular function", "interictal vestibular dysfunction", "vestibular function defect" ], "HP:0006917": [ "vestibular dysfunction", "impaired vestibular function", "interictal vestibular dysfunction", "vestibular function defect" ], "HP:0007921": [ "vestibular dysfunction", "impaired vestibular function", "interictal vestibular dysfunction", "vestibular function defect" ], "HP:0001756": [ "vestibular hypofunction" ], "HP:0001757": [ "high - frequency sensorineural hearing impairment", "high frequency sensorineural hearing impairment", "high - tone sensorineural deafness", "high - tone sensorineural hearing impairment" ], "HP:0001760": [ "abnormal foot morphology", "abnormal foot structure", "abnormal feet structure", "abnormality of the foot", "abnormality of the feet", "foot deformity", "foot deformities" ], "HP:0010216": [ "abnormal foot morphology", "abnormal foot structure", "abnormal feet structure", "abnormality of the foot", "abnormality of the feet", "foot deformity", "foot deformities" ], "HP:0010611": [ "abnormal foot morphology", "abnormal foot structure", "abnormal feet structure", "abnormality of the foot", "abnormality of the feet", "foot deformity", "foot deformities" ], "HP:0001761": [ "pe cavus", "pes cavus", "high - arched foot" ], "HP:0001762": [ "talipes equinovarus", "club foot", "club feet", "clubbing of foot", "clubbing of feet", "clubfeet", "clubfoot", "equinovarus", "foot , talipes equinovarus", "pe equinovarus", "pes equinovarus", "pe equinus", "pes equinus", "talipes varus" ], "HP:0001763": [ "pe planus", "pes planus", "drop arch", "dropped arches", "fall arch", "fallen arches", "flat foot", "flat feet" ], "HP:0001765": [ "hammertoe", "hammer toe", "hammertoes" ], "HP:0001769": [ "broad foot", "broad feet", "wide foot" ], "HP:0001770": [ "toe syndactyly", "foot syndactyly", "fuse toe", "fused toes", "syndactyly of foot", "syndactyly of feet", "syndactyly of toe", "syndactyly of toes", "webbed toe", "webbed toes" ], "HP:0001828": [ "toe syndactyly", "foot syndactyly", "fuse toe", "fused toes", "syndactyly of foot", "syndactyly of feet", "syndactyly of toe", "syndactyly of toes", "webbed toe", "webbed toes" ], "HP:0005677": [ "toe syndactyly", "foot syndactyly", "fuse toe", "fused toes", "syndactyly of foot", "syndactyly of feet", "syndactyly of toe", "syndactyly of toes", "webbed toe", "webbed toes" ], "HP:0001771": [ "achilles tendon contracture", "achilles tendon contractures", "contracture of the achilles tendon", "contractures of the achilles tendon", "shortening of the achilles tendon", "tight achilles tendon" ], "HP:0004711": [ "achilles tendon contracture", "achilles tendon contractures", "contracture of the achilles tendon", "contractures of the achilles tendon", "shortening of the achilles tendon", "tight achilles tendon" ], "HP:0005031": [ "achilles tendon contracture", "achilles tendon contractures", "contracture of the achilles tendon", "contractures of the achilles tendon", "shortening of the achilles tendon", "tight achilles tendon" ], "HP:0006430": [ "achilles tendon contracture", "achilles tendon contractures", "contracture of the achilles tendon", "contractures of the achilles tendon", "shortening of the achilles tendon", "tight achilles tendon" ], "HP:0001772": [ "talipes equinovalgus", "equinovalgus deformity" ], "HP:0001773": [ "short foot", "hypoplastic foot", "hypoplastic feet", "short feet", "small foot", "small feet" ], "HP:0001764": [ "short foot", "hypoplastic foot", "hypoplastic feet", "short feet", "small foot", "small feet" ], "HP:0001766": [ "short foot", "hypoplastic foot", "hypoplastic feet", "short feet", "small foot", "small feet" ], "HP:0001778": [ "short foot", "hypoplastic foot", "hypoplastic feet", "short feet", "small foot", "small feet" ], "HP:0008135": [ "short foot", "hypoplastic foot", "hypoplastic feet", "short feet", "small foot", "small feet" ], "HP:0001775": [ "tarsal osteovalgus" ], "HP:0001776": [ "bilateral talipes equinovarus", "bilateral clubfeet", "bilateral clubfoot", "club foot on both side", "club foot on both sides" ], "HP:0001780": [ "abnormality of toe", "abnormality of the toe", "abnormalities of the toes" ], "HP:0001782": [ "bulbous tip of toe", "bulbous tips of toes" ], "HP:0001783": [ "broad metatarsal", "broad metatarsals", "wide long bone of foot", "widen metatarsal shaft", "widened metatarsal shaft" ], "HP:0005907": [ "broad metatarsal", "broad metatarsals", "wide long bone of foot", "widen metatarsal shaft", "widened metatarsal shaft" ], "HP:0008106": [ "broad metatarsal", "broad metatarsals", "wide long bone of foot", "widen metatarsal shaft", "widened metatarsal shaft" ], "HP:0001785": [ "ankle swell", "ankle swelling" ], "HP:0001786": [ "narrow foot", "slender foot", "slender feet" ], "HP:0001787": [ "abnormal delivery", "delivery complication" ], "HP:0001788": [ "premature rupture of membrane", "premature rupture of membranes" ], "HP:0002163": [ "premature rupture of membrane", "premature rupture of membranes" ], "HP:0001789": [ "hydrops fetalis" ], "HP:0001790": [ "nonimmune hydrops fetalis", "hydrops fetalis , non - immune", "hydrops fetalis , nonimmune", "non - immune fetal hydrops", "non - immune foetal hydrops", "nonimmune hydrops" ], "HP:0001791": [ "fetal ascites", "foetal ascites" ], "HP:0001792": [ "small nail", "hypoplastic nail", "hypoplastic nails", "nail hypoplasia", "small nails" ], "HP:0001813": [ "small nail", "hypoplastic nail", "hypoplastic nails", "nail hypoplasia", "small nails" ], "HP:0001795": [ "hyperconvex nail", "increase nail curvature", "increased nail curvature", "nail overcurvature" ], "HP:0008413": [ "hyperconvex nail", "increase nail curvature", "increased nail curvature", "nail overcurvature" ], "HP:0001798": [ "anonychia", "absent nail", "absent nails", "aplastic nail", "aplastic nails" ], "HP:0007593": [ "anonychia", "absent nail", "absent nails", "aplastic nail", "aplastic nails" ], "HP:0008384": [ "anonychia", "absent nail", "absent nails", "aplastic nail", "aplastic nails" ], "HP:0001799": [ "short nail", "short nails" ], "HP:0200075": [ "short nail", "short nails" ], "HP:0001800": [ "hypoplastic toenail", "hypoplastic toenails", "underdeveloped toenail", "underdeveloped toenails" ], "HP:0001802": [ "absent toenail", "absent toenails", "absent toenail ( anonychia )", "absent toenails ( anonychia )", "anonychia of toenail", "anonychia of toenails" ], "HP:0001803": [ "nail pit", "nail pits", "nail pitting", "pit nail", "pitted nails" ], "HP:0001804": [ "hypoplastic fingernail", "small fingernail", "underdeveloped fingernail" ], "HP:0001805": [ "onychogryposis", "dystrophic thicken nail", "dystrophic thickened nails", "thick nail", "thicken nail", "thickened nails" ], "HP:0001819": [ "onychogryposis", "dystrophic thicken nail", "dystrophic thickened nails", "thick nail", "thicken nail", "thickened nails" ], "HP:0200088": [ "onychogryposis", "dystrophic thicken nail", "dystrophic thickened nails", "thick nail", "thicken nail", "thickened nails" ], "HP:0001806": [ "onycholysis", "detachment of nail", "oncholysis" ], "HP:0001807": [ "ridge nail", "ridged nail", "groove nail", "grooved nails", "longitudinal ridging", "nail ridging", "ridged nails" ], "HP:0001801": [ "ridge nail", "ridged nail", "groove nail", "grooved nails", "longitudinal ridging", "nail ridging", "ridged nails" ], "HP:0001811": [ "ridge nail", "ridged nail", "groove nail", "grooved nails", "longitudinal ridging", "nail ridging", "ridged nails" ], "HP:0001808": [ "fragile nail", "fragile nails", "brittle nail", "brittle nails" ], "HP:0001796": [ "fragile nail", "fragile nails", "brittle nail", "brittle nails" ], "HP:0001809": [ "split nail", "longitudinal splitting of nail" ], "HP:0001810": [ "dystrophic toenail", "dystrophic toenail change", "dystrophic toenail changes", "dystrophic toenails", "poor toenail formation" ], "HP:0007558": [ "dystrophic toenail", "dystrophic toenail change", "dystrophic toenail changes", "dystrophic toenails", "poor toenail formation" ], "HP:0001812": [ "hyperconvex fingernail", "hyperconvex fingernails", "tubular fingernail", "tubular fingernails" ], "HP:0008380": [ "hyperconvex fingernail", "hyperconvex fingernails", "tubular fingernail", "tubular fingernails" ], "HP:0001814": [ "deep - set nail", "deep - set nails" ], "HP:0001816": [ "thin nail", "thin nails" ], "HP:0001817": [ "absent fingernail", "anonychia of fingernail", "anonychia of fingernails", "aplasia of the fingernail" ], "HP:0001818": [ "paronychia" ], "HP:0001820": [ "leukonychia", "white discoloration of nail", "white discoloration of nails" ], "HP:0001821": [ "broad nail", "broad fingernail", "broad fingernails", "wide fingernail", "wide fingernails" ], "HP:0008406": [ "broad nail", "broad fingernail", "broad fingernails", "wide fingernail", "wide fingernails" ], "HP:0001822": [ "hallux valgus", "bunion", "lateral deviation of great toe", "lateral deviation of hallux", "lateral deviation of halluces" ], "HP:0004682": [ "hallux valgus", "bunion", "lateral deviation of great toe", "lateral deviation of hallux", "lateral deviation of halluces" ], "HP:0001824": [ "weight loss", "loss of weight" ], "HP:0001827": [ "genital tract atresia" ], "HP:0001534": [ "genital tract atresia" ], "HP:0001829": [ "foot polydactyly", "duplication of bone of the toe", "duplication of bones of the toes", "polydactyly of foot", "polydactyly of feet", "polydactyly of the foot" ], "HP:0009135": [ "foot polydactyly", "duplication of bone of the toe", "duplication of bones of the toes", "polydactyly of foot", "polydactyly of feet", "polydactyly of the foot" ], "HP:0001830": [ "postaxial foot polydactyly", "extra toe attach near the little toe", "extra toe attached near the little toe", "fibular polydactyly", "polydactyly affect the 5th toe", "polydactyly affecting the 5th toe", "postaxial polydactyly of foot", "postaxial polydactyly of feet", "posterior polydactyly of foot" ], "HP:0010346": [ "postaxial foot polydactyly", "extra toe attach near the little toe", "extra toe attached near the little toe", "fibular polydactyly", "polydactyly affect the 5th toe", "polydactyly affecting the 5th toe", "postaxial polydactyly of foot", "postaxial polydactyly of feet", "posterior polydactyly of foot" ], "HP:0001831": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0001767": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0001781": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0001855": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0004701": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0005889": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0008099": [ "short toe", "brachydactyly of the foot", "hypoplasia of the toe", "hypoplastic toe", "hypoplastic toes", "short foot phalanx", "short foot phalanges", "short toes", "stubby toe", "stubby toes" ], "HP:0001832": [ "abnormal metatarsal morphology", "abnormality of the long bone of foot" ], "HP:0001833": [ "long foot", "disproportionately large foot", "disproportionately large feet", "large foot", "large feet", "long feet" ], "HP:0008136": [ "long foot", "disproportionately large foot", "disproportionately large feet", "large foot", "large feet", "long feet" ], "HP:0008143": [ "long foot", "disproportionately large foot", "disproportionately large feet", "large foot", "large feet", "long feet" ], "HP:0001836": [ "camptodactyly of toe", "camptodactyly of foot", "camptodactyly of feet" ], "HP:0001837": [ "broad toe", "wide toe" ], "HP:0001838": [ "rocker bottom foot", "congenital vertical talus", "rocker bottom feet", "rocker - bottom foot", "rocker - bottom feet", "rockerbottom foot", "rockerbottom feet" ], "HP:0001835": [ "rocker bottom foot", "congenital vertical talus", "rocker bottom feet", "rocker - bottom foot", "rocker - bottom feet", "rockerbottom foot", "rockerbottom feet" ], "HP:0004693": [ "rocker bottom foot", "congenital vertical talus", "rocker bottom feet", "rocker - bottom foot", "rocker - bottom feet", "rockerbottom foot", "rockerbottom feet" ], "HP:0010218": [ "rocker bottom foot", "congenital vertical talus", "rocker bottom feet", "rocker - bottom foot", "rocker - bottom feet", "rockerbottom foot", "rockerbottom feet" ], "HP:0001839": [ "split foot", "foot ectrodactyly", "lobster - claw foot deformity", "split - foot" ], "HP:0003062": [ "split foot", "foot ectrodactyly", "lobster - claw foot deformity", "split - foot" ], "HP:0005904": [ "split foot", "foot ectrodactyly", "lobster - claw foot deformity", "split - foot" ], "HP:0001840": [ "metatarsus adductus", "forefoot varus", "front half of foot turn inward", "front half of foot turns inward", "intoe", "metatarsus adductovarsus", "metatarsus varus" ], "HP:0001768": [ "metatarsus adductus", "forefoot varus", "front half of foot turn inward", "front half of foot turns inward", "intoe", "metatarsus adductovarsus", "metatarsus varus" ], "HP:0010217": [ "metatarsus adductus", "forefoot varus", "front half of foot turn inward", "front half of foot turns inward", "intoe", "metatarsus adductovarsus", "metatarsus varus" ], "HP:0001841": [ "preaxial foot polydactyly", "partial / complete duplication of the phalanx of the big toe", "partial / complete duplication of the phalanges of the big toe", "polydactyly affect the hallux", "polydactyly affecting the hallux", "preaxial hallucal polydactyly", "preaxial polydactyly of foot", "preaxial polydactyly of feet", "preaxial polydactyly of the foot", "preaxial polydactyly of the feet", "preaxial polydactyly , foot", "preaxial polydactyly , feet" ], "HP:0009607": [ "preaxial foot polydactyly", "partial / complete duplication of the phalanx of the big toe", "partial / complete duplication of the phalanges of the big toe", "polydactyly affect the hallux", "polydactyly affecting the hallux", "preaxial hallucal polydactyly", "preaxial polydactyly of foot", "preaxial polydactyly of feet", "preaxial polydactyly of the foot", "preaxial polydactyly of the feet", "preaxial polydactyly , foot", "preaxial polydactyly , feet" ], "HP:0010050": [ "preaxial foot polydactyly", "partial / complete duplication of the phalanx of the big toe", "partial / complete duplication of the phalanges of the big toe", "polydactyly affect the hallux", "polydactyly affecting the hallux", "preaxial hallucal polydactyly", "preaxial polydactyly of foot", "preaxial polydactyly of feet", "preaxial polydactyly of the foot", "preaxial polydactyly of the feet", "preaxial polydactyly , foot", "preaxial polydactyly , feet" ], "HP:0001842": [ "foot acroosteolysis", "acroosteolysis of foot", "acroosteolysis of feet" ], "HP:0001844": [ "abnormality of the hallux", "abnormalities of the hallux", "abnormality of the big toe" ], "HP:0001845": [ "overlap toe", "overlapping toe", "crossover toe", "overlapping toes", "override toe", "overriding toes" ], "HP:0001847": [ "long hallux", "increased length of the hallux", "large hallux", "large halluces", "long big toe", "long halluces" ], "HP:0001867": [ "long hallux", "increased length of the hallux", "large hallux", "large halluces", "long big toe", "long halluces" ], "HP:0001848": [ "calcaneovalgus deformity", "calcaneovalgus", "calcaneovalgus foot", "foot and ankle bend up toward shin of leg", "valgus position of the calcaneus" ], "HP:0001774": [ "calcaneovalgus deformity", "calcaneovalgus", "calcaneovalgus foot", "foot and ankle bend up toward shin of leg", "valgus position of the calcaneus" ], "HP:0008120": [ "calcaneovalgus deformity", "calcaneovalgus", "calcaneovalgus foot", "foot and ankle bend up toward shin of leg", "valgus position of the calcaneus" ], "HP:0001849": [ "foot oligodactyly", "miss toe", "missing toes", "oligodactyly of foot", "oligodactyly of feet" ], "HP:0001777": [ "foot oligodactyly", "miss toe", "missing toes", "oligodactyly of foot", "oligodactyly of feet" ], "HP:0001850": [ "abnormality of the tarsal bone", "abnormality of the tarsal bones", "abnormal ankle bone", "abnormal ankle bones", "abnormal tarsal", "abnormal tarsals" ], "HP:0001852": [ "sandal gap", "gap between 1st and 2nd toe", "gap between 1st and 2nd toes", "gap between first and second toe", "increase space between first and second toe", "increased space between first and second toes", "sandal gap between first and second toe", "sandal gap between first and second toes", "space between great toe and second toe", "wide space between 1st , 2nd toe", "wide space between 1st , 2nd toes", "wide space between first and second toe", "wide space between first and second toes", "wide - space big toe", "wide - spaced big toe", "widely space 1st - 2nd toe", "widely spaced 1st - 2nd toes", "widely space first and second toe", "widely spaced first and second toes", "widen gap 1st - 2nd toe", "widened gap 1st - 2nd toes", "widen gap first and second toe", "widened gap first and second toe" ], "HP:0001853": [ "bifid distal phalanx of toe", "bifid distal phalanges of toes", "bifid terminal phalanx of toe", "notch outermost bone of toe", "notched outermost bones of toes" ], "HP:0005615": [ "bifid distal phalanx of toe", "bifid distal phalanges of toes", "bifid terminal phalanx of toe", "notch outermost bone of toe", "notched outermost bones of toes" ], "HP:0001854": [ "podagra", "gout of big toe" ], "HP:0001857": [ "short distal phalanx of toe", "hypoplastic distal phalanx of foot", "hypoplastic distal phalanges of feet", "short outermost bone of toe" ], "HP:0001859": [ "distal foot symphalangism" ], "HP:0100236": [ "distal foot symphalangism" ], "HP:0001862": [ "obsolete acral ulceration and osteomyelitis lead to autoamputation of the digit ( foot )", "obsolete acral ulceration and osteomyelitis leading to autoamputation of the digits ( feet )", "obsolete acral ulceration and osteomyelitis lead to autoamputation of digit", "obsolete acral ulceration and osteomyelitis leading to autoamputation of digits", "acral ulceration" ], "HP:0001863": [ "toe clinodactyly", "clinodactyly of foot", "clinodactyly of feet", "toe curvature" ], "HP:0001864": [ "clinodactyly of the 5th toe", "curvature of the little toe", "curvature of the pinkie toe", "curvature of the pinky toe" ], "HP:0001868": [ "autoamputation of foot" ], "HP:0001869": [ "deep plantar crease", "deep plantar creases", "deep wrinkle in sol of foot", "deep wrinkles in soles of feet" ], "HP:0001870": [ "acroosteolysis of distal phalanx ( foot )", "acroosteolysis of distal phalanges ( feet )", "acroosteolysis of distal phalanx of foot", "acroosteolysis of distal phalanges of feet" ], "HP:0001871": [ "abnormality of blood and blood - forming tissue", "abnormality of blood and blood - forming tissues", "abnormality of the haematopoietic system", "abnormality of the hematopoietic system", "haematological abnormality", "hematologic disease", "hematological abnormality" ], "HP:0003135": [ "abnormality of blood and blood - forming tissue", "abnormality of blood and blood - forming tissues", "abnormality of the haematopoietic system", "abnormality of the hematopoietic system", "haematological abnormality", "hematologic disease", "hematological abnormality" ], "HP:0001872": [ "abnormal thrombocyte morphology", "blood platelet disease", "platelet abnormality", "platelet abnormalities", "thrombasthenia" ], "HP:0004807": [ "abnormal thrombocyte morphology", "blood platelet disease", "platelet abnormality", "platelet abnormalities", "thrombasthenia" ], "HP:0005554": [ "abnormal thrombocyte morphology", "blood platelet disease", "platelet abnormality", "platelet abnormalities", "thrombasthenia" ], "HP:0001873": [ "thrombocytopenia", "low platelet count" ], "HP:0001906": [ "thrombocytopenia", "low platelet count" ], "HP:0004838": [ "thrombocytopenia", "low platelet count" ], "HP:0008175": [ "thrombocytopenia", "low platelet count" ], "HP:0008268": [ "thrombocytopenia", "low platelet count" ], "HP:0008302": [ "thrombocytopenia", "low platelet count" ], "HP:0001874": [ "abnormality of neutrophil", "abnormality of neutrophils", "abnormality of polymorphonuclear neutrophil", "abnormality of polymorphonuclear neutrophils" ], "HP:0001875": [ "neutropenia", "low blood neutrophil count", "low neutrophil count", "neutropoenia", "peripheral neutropenia" ], "HP:0005515": [ "neutropenia", "low blood neutrophil count", "low neutrophil count", "neutropoenia", "peripheral neutropenia" ], "HP:0005533": [ "neutropenia", "low blood neutrophil count", "low neutrophil count", "neutropoenia", "peripheral neutropenia" ], "HP:0001876": [ "pancytopenia", "low blood cell count", "pancytopaenia" ], "HP:0001877": [ "abnormal erythrocyte morphology", "abnormality of erythrocyte", "abnormality of erythrocytes", "abnormality of erythroid lineage cell", "abnormality of red blood cell", "abnormality of red blood cells" ], "HP:0010973": [ "abnormal erythrocyte morphology", "abnormality of erythrocyte", "abnormality of erythrocytes", "abnormality of erythroid lineage cell", "abnormality of red blood cell", "abnormality of red blood cells" ], "HP:0001878": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0001910": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0004827": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0004853": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0004868": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0005503": [ "hemolytic anemia", "haemolytic anaemia", "hemolytic anaemia", "increase hemolysis", "increased hemolysis" ], "HP:0001879": [ "abnormal eosinophil morphology", "abnormality of eosinophil", "abnormality of eosinophils" ], "HP:0001880": [ "eosinophilia", "high blood eosinophil count" ], "HP:0001881": [ "abnormal leukocyte morphology", "abnormality of leukocyte", "abnormality of leukocytes" ], "HP:0001882": [ "leukopenia", "decrease blood leukocyte number", "decreased blood leukocyte number", "low white blood cell count" ], "HP:0001883": [ "talipes", "talipes foot deformity", "talipes foot deformities" ], "HP:0001884": [ "talipes calcaneovalgus", "pe calcaneovarus", "pes calcaneovarus" ], "HP:0001885": [ "short 2nd toe", "short second toe" ], "HP:0001886": [ "foot osteomyelitis", "foot bone infection" ], "HP:0001888": [ "lymphopenia", "absolute lymphocyte count decrease", "decrease blood lymphocyte number", "decreased blood lymphocyte number", "low lymphocyte number", "lymphocytopenia" ], "HP:0001889": [ "megaloblastic anemia", "megaloblastic anaemia" ], "HP:0004858": [ "megaloblastic anemia", "megaloblastic anaemia" ], "HP:0001890": [ "autoimmune hemolytic anemia", "autoimmune haemolytic anaemia", "autoimmune hemolytic anaemia", "hemolytic anemia , autoimmune" ], "HP:0001891": [ "iron deficiency anemia", "ferropenic", "iron deficiency anaemia", "iron - deficiency anaemia", "iron - deficiency anemia" ], "HP:0001892": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0004830": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0004834": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0004849": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0004862": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0004865": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0008183": [ "abnormal bleeding", "bleed diathesis", "bleeding diathesis", "bleeding tendency", "hemorrhagic diathesis" ], "HP:0001894": [ "thrombocytosis", "increased number of platelet in blood", "increased number of platelets in blood", "increase platelet count", "increased platelet count", "thrombocythaemia", "thrombocythemia" ], "HP:0001895": [ "normochromic anemia", "normochromic anaemia" ], "HP:0001896": [ "reticulocytopenia" ], "HP:0001897": [ "normocytic anemia", "normocytic anaemia" ], "HP:0001898": [ "increase red blood cell mass", "increased red blood cell mass", "increase rbc mass", "increased rbc mass" ], "HP:0001899": [ "increase hematocrit", "increased hematocrit", "increase hct", "increased hct" ], "HP:0001900": [ "increase hemoglobin", "increased hemoglobin", "increase haemoglobin", "increased haemoglobin", "increase hb", "increased hb" ], "HP:0001901": [ "polycythemia", "abnormally shape erythrocyte", "abnormally shaped erythrocytes", "erythrocytosis", "increase red blood cell", "increased red blood cells", "polyglobulia" ], "HP:0001893": [ "polycythemia", "abnormally shape erythrocyte", "abnormally shaped erythrocytes", "erythrocytosis", "increase red blood cell", "increased red blood cells", "polyglobulia" ], "HP:0001902": [ "giant platelet", "giant platelets" ], "HP:0001903": [ "anemia", "anaemia", "decrease haemoglobin", "decreased haemoglobin", "decrease hemoglobin", "decreased hemoglobin", "low number of red blood cell or haemoglobin", "low number of red blood cells or haemoglobin", "low number of red blood cell or hemoglobin", "low number of red blood cells or hemoglobin" ], "HP:0001926": [ "anemia", "anaemia", "decrease haemoglobin", "decreased haemoglobin", "decrease hemoglobin", "decreased hemoglobin", "low number of red blood cell or haemoglobin", "low number of red blood cells or haemoglobin", "low number of red blood cell or hemoglobin", "low number of red blood cells or hemoglobin" ], "HP:0003136": [ "anemia", "anaemia", "decrease haemoglobin", "decreased haemoglobin", "decrease hemoglobin", "decreased hemoglobin", "low number of red blood cell or haemoglobin", "low number of red blood cells or haemoglobin", "low number of red blood cell or hemoglobin", "low number of red blood cells or hemoglobin" ], "HP:0005509": [ "anemia", "anaemia", "decrease haemoglobin", "decreased haemoglobin", "decrease hemoglobin", "decreased hemoglobin", "low number of red blood cell or haemoglobin", "low number of red blood cells or haemoglobin", "low number of red blood cell or hemoglobin", "low number of red blood cells or hemoglobin" ], "HP:0001904": [ "neutropenia in presence of anti - neutropil antibody", "neutropenia in presence of anti - neutropil antibodies", "autoimmune neutropenia" ], "HP:0001905": [ "congenital thrombocytopenia", "thrombocytopenia , congenital" ], "HP:0004869": [ "congenital thrombocytopenia", "thrombocytopenia , congenital" ], "HP:0001907": [ "thromboembolism", "blood clot in blood vessel", "embolism and thrombosis", "thromboembolic disease", "thromboembolic event", "thromboembolic events" ], "HP:0001908": [ "hypoplastic anemia", "hypoplastic anaemia" ], "HP:0001909": [ "leukemia", "blood cancer", "leukaemia" ], "HP:0005519": [ "leukemia", "blood cancer", "leukaemia" ], "HP:0006726": [ "leukemia", "blood cancer", "leukaemia" ], "HP:0001911": [ "abnormal granulocyte morphology", "abnormality of granulocyte", "abnormality of granulocytes" ], "HP:0005438": [ "abnormal granulocyte morphology", "abnormality of granulocyte", "abnormality of granulocytes" ], "HP:0001912": [ "abnormal basophil morphology", "abnormality of basophil", "abnormality of basophils" ], "HP:0001913": [ "granulocytopenia" ], "HP:0001915": [ "aplastic anemia", "aplastic anaemia" ], "HP:0001917": [ "renal amyloidosis" ], "HP:0001919": [ "acute kidney injury", "acute kidney failure", "acute renal failure" ], "HP:0001920": [ "renal artery stenosis", "narrowing of kidney artery" ], "HP:0001922": [ "vacuolated lymphocyte", "vacuolated lymphocytes", "enlarge lysosomal vacuole in lymphocyte", "enlarged lysosomal vacuoles in lymphocytes", "vacuolated blood lymphocyte", "vacuolated blood lymphocytes" ], "HP:0008147": [ "vacuolated lymphocyte", "vacuolated lymphocytes", "enlarge lysosomal vacuole in lymphocyte", "enlarged lysosomal vacuoles in lymphocytes", "vacuolated blood lymphocyte", "vacuolated blood lymphocytes" ], "HP:0008329": [ "vacuolated lymphocyte", "vacuolated lymphocytes", "enlarge lysosomal vacuole in lymphocyte", "enlarged lysosomal vacuoles in lymphocytes", "vacuolated blood lymphocyte", "vacuolated blood lymphocytes" ], "HP:0001923": [ "reticulocytosis", "increased immature red blood cell", "increased immature red blood cells", "increased number of immature red blood cell", "increased number of immature red blood cells", "increase reticulocyte count", "increased reticulocyte count", "increase reticulocyte", "increased reticulocytes", "polychromasia" ], "HP:0001924": [ "sideroblastic anemia", "hypersideremic anaemia", "hypersideremic anemia", "sideroblastic anaemia" ], "HP:0100791": [ "sideroblastic anemia", "hypersideremic anaemia", "hypersideremic anemia", "sideroblastic anaemia" ], "HP:0001927": [ "acanthocytosis", "acanthocyte", "acanthocytes", "red cell acanthocytosis" ], "HP:0005552": [ "acanthocytosis", "acanthocyte", "acanthocytes", "red cell acanthocytosis" ], "HP:0001928": [ "abnormality of coagulation", "abnormal blood coagulation study", "abnormal blood coagulation studies", "blood coagulation disorder", "coagulation abnormality", "coagulation abnormalities", "haemorrhagic disorder", "haemorrhagic disorders" ], "HP:0001929": [ "reduce factor xi activity", "reduced factor xi activity", "factor xi deficiency", "low factor xi activity" ], "HP:0001930": [ "nonspherocytic hemolytic anemia", "nonspherocytic hemolytic anaemia" ], "HP:0001931": [ "hypochromic anemia", "hypochromic anaemia" ], "HP:0001933": [ "subcutaneous hemorrhage", "bleed below the skin", "bleeding below the skin", "subcutaneous haemorrhage" ], "HP:0001934": [ "persistent bleeding after trauma", "excessive bleeding after minor trauma", "frequent bleed with trauma", "frequent bleeding with trauma", "prolong bleeding after minor trauma", "prolonged bleeding after minor trauma" ], "HP:0007463": [ "persistent bleeding after trauma", "excessive bleeding after minor trauma", "frequent bleed with trauma", "frequent bleeding with trauma", "prolong bleeding after minor trauma", "prolonged bleeding after minor trauma" ], "HP:0001935": [ "microcytic anemia", "microcytic anaemia" ], "HP:0001937": [ "microangiopathic hemolytic anemia", "microangiopathic hemolytic anaemia" ], "HP:0001939": [ "abnormality of metabolism / homeostasis", "laboratory abnormality", "metabolism abnormality", "obsolete abnormality of proteoglycan metabolism", "obsolete abnormality of glycoprotein metabolism" ], "HP:0002146": [ "abnormality of metabolism / homeostasis", "laboratory abnormality", "metabolism abnormality", "obsolete abnormality of proteoglycan metabolism", "obsolete abnormality of glycoprotein metabolism" ], "HP:0004355": [ "abnormality of metabolism / homeostasis", "laboratory abnormality", "metabolism abnormality", "obsolete abnormality of proteoglycan metabolism", "obsolete abnormality of glycoprotein metabolism" ], "HP:0004367": [ "abnormality of metabolism / homeostasis", "laboratory abnormality", "metabolism abnormality", "obsolete abnormality of proteoglycan metabolism", "obsolete abnormality of glycoprotein metabolism" ], "HP:0001941": [ "acidosis" ], "HP:0001940": [ "acidosis" ], "HP:0001942": [ "metabolic acidosis" ], "HP:0004895": [ "metabolic acidosis" ], "HP:0004907": [ "metabolic acidosis" ], "HP:0001943": [ "hypoglycemia", "hypoglycaemia", "low blood sugar" ], "HP:0003356": [ "hypoglycemia", "hypoglycaemia", "low blood sugar" ], "HP:0001944": [ "dehydration", "exsiccosis" ], "HP:0001945": [ "fever", "hyperthermia", "pyrexia" ], "HP:0001946": [ "ketosis", "high level of ketone body", "high levels of ketone bodies", "hyperketosis" ], "HP:0003543": [ "ketosis", "high level of ketone body", "high levels of ketone bodies", "hyperketosis" ], "HP:0001947": [ "renal tubular acidosis", "accumulation of acid in body due to kidney problem" ], "HP:0001948": [ "alkalosis" ], "HP:0001949": [ "hypokalemic alkalosis" ], "HP:0001950": [ "respiratory alkalosis" ], "HP:0001951": [ "episodic ammonia intoxication" ], "HP:0001952": [ "obsolete glucose intolerance", "glucose intolerance", "abnormal glucose tolerance" ], "HP:0001953": [ "diabetic ketoacidosis", "diabetic ketosis" ], "HP:0008253": [ "diabetic ketoacidosis", "diabetic ketosis" ], "HP:0001954": [ "recurrent fever", "episodic fever", "hyperthermia , episodic", "increase body temperature , episodic", "increased body temperature , episodic", "intermittent fever" ], "HP:0004903": [ "recurrent fever", "episodic fever", "hyperthermia , episodic", "increase body temperature , episodic", "increased body temperature , episodic", "intermittent fever" ], "HP:0005962": [ "recurrent fever", "episodic fever", "hyperthermia , episodic", "increase body temperature , episodic", "increased body temperature , episodic", "intermittent fever" ], "HP:0005966": [ "recurrent fever", "episodic fever", "hyperthermia , episodic", "increase body temperature , episodic", "increased body temperature , episodic", "intermittent fever" ], "HP:0005980": [ "recurrent fever", "episodic fever", "hyperthermia , episodic", "increase body temperature , episodic", "increased body temperature , episodic", "intermittent fever" ], "HP:0001955": [ "unexplained fever", "unexplained fevers" ], "HP:0001956": [ "truncal obesity", "centripetal obesity" ], "HP:0008885": [ "truncal obesity", "centripetal obesity" ], "HP:0001958": [ "nonketotic hypoglycemia" ], "HP:0001959": [ "polydipsia", "extreme thirst" ], "HP:0001960": [ "hypokalemic metabolic alkalosis" ], "HP:0001961": [ "hypoplastic heart", "small heart", "underdeveloped heart" ], "HP:0001962": [ "obsolete palpitation ( with pheochromocytoma )", "obsolete palpitations ( with pheochromocytoma )", "palpitation", "palpitations", "heart palpitation", "heart palpitations", "missed heart beat", "skipped heart beat" ], "HP:0001963": [ "abnormal speech discrimination", "poor speech discrimination" ], "HP:0001964": [ "aplasia / hypoplasia of metatarsal bone", "aplasia / hypoplasia of metatarsal bones", "absent or hypoplastic metatarsal", "absent / hypoplastic metacarpal", "absent / hypoplastic metacarpals", "absent / hypoplastic metatarsal", "absent / hypoplastic metatarsals", "absent / small long bone of foot", "absent / underdevelop long bone of foot", "absent / underdeveloped long bone of foot", "aplastic / hypoplastic metatarsal", "aplastic / hypoplastic metatarsals" ], "HP:0001965": [ "abnormal scalp morphology", "abnormality of the scalp", "anomaly of scalp" ], "HP:0001966": [ "abnormal glomerular mesangium morphology", "abnormality glomerular mesangium morphology", "abnormality of the glomerular mesangium", "mesangial abnormality" ], "HP:0001967": [ "diffuse mesangial sclerosis", "diffuse mesangial sclerosis glomerulopathy", "mesangial sclerosis" ], "HP:0004728": [ "diffuse mesangial sclerosis", "diffuse mesangial sclerosis glomerulopathy", "mesangial sclerosis" ], "HP:0001969": [ "abnormal tubulointerstitial morphology", "tubulointerstitial abnormality", "tubulointerstitial nephropathy" ], "HP:0008654": [ "abnormal tubulointerstitial morphology", "tubulointerstitial abnormality", "tubulointerstitial nephropathy" ], "HP:0001970": [ "tubulointerstitial nephritis", "interstitial nephritis", "nephritis , tubulointerstitial" ], "HP:0001971": [ "hypersplenism" ], "HP:0001972": [ "macrocytic anemia", "macrocytic anaemia" ], "HP:0001973": [ "autoimmune thrombocytopenia", "idiopathic thrombocytopenia", "idiopathic thrombocytopenic purpura", "immune thrombocytopenia" ], "HP:0001936": [ "autoimmune thrombocytopenia", "idiopathic thrombocytopenia", "idiopathic thrombocytopenic purpura", "immune thrombocytopenia" ], "HP:0004806": [ "autoimmune thrombocytopenia", "idiopathic thrombocytopenia", "idiopathic thrombocytopenic purpura", "immune thrombocytopenia" ], "HP:0004829": [ "autoimmune thrombocytopenia", "idiopathic thrombocytopenia", "idiopathic thrombocytopenic purpura", "immune thrombocytopenia" ], "HP:0001974": [ "leukocytosis", "elevate white blood count", "elevated white blood count", "high white blood count", "increase blood leukocyte number", "increased blood leukocyte number" ], "HP:0001975": [ "decrease platelet glycoprotein iib - iiia", "decreased platelet glycoprotein iib - iiia", "glanzmann thrombasthenia", "reduce level of platelet glycoprotein iib / iiia complex", "reduced level of platelet glycoprotein iib / iiia complex" ], "HP:0001976": [ "reduce antithrombin iii activity", "reduced antithrombin iii activity", "anti - thrombin iii deficiency", "antithrombin iii deficiency", "decrease antithrombin iii", "decreased antithrombin iii" ], "HP:0001977": [ "abnormal thrombosis", "abnormal blood clot", "abnormal blood clotting" ], "HP:0001978": [ "extramedullary hematopoiesis", "extramedullary erythropoiesis" ], "HP:0004847": [ "extramedullary hematopoiesis", "extramedullary erythropoiesis" ], "HP:0001980": [ "megaloblastic bone marrow" ], "HP:0001981": [ "schistocytosis", "schistocytes" ], "HP:0001982": [ "sea - blue histiocytosis", "'sea blue ' histiocyte", "'sea blue ' histiocytes", "sea - blue histiocyte" ], "HP:0001983": [ "reduce lymphocyte surface expression of cd43", "reduced lymphocyte surface expression of cd43", "cd43 defectively express on surface of blood cell", "cd43 defectively expressed on surface of blood cells", "reduce lymphocyte surface expression of sialophorin", "reduced lymphocyte surface expression of sialophorin" ], "HP:0001984": [ "intolerance to protein" ], "HP:0001985": [ "hypoketotic hypoglycemia", "hypoglycemia , hypoketotic" ], "HP:0005969": [ "hypoketotic hypoglycemia", "hypoglycemia , hypoketotic" ], "HP:0001986": [ "hypertonic dehydration", "hyperosmolar dehydration" ], "HP:0001987": [ "hyperammonemia", "high blood ammonia level", "high blood ammonia levels" ], "HP:0008308": [ "hyperammonemia", "high blood ammonia level", "high blood ammonia levels" ], "HP:0008334": [ "hyperammonemia", "high blood ammonia level", "high blood ammonia levels" ], "HP:0001988": [ "recurrent hypoglycemia", "hypoglycaemia , recurrent", "hypoglycemia , recurrent", "hypoglycemic episode", "hypoglycemic episodes", "recurrent hypoglycaemia", "recurrent hypoglycemic episode", "recurrent hypoglycemic episodes", "recurrent low blood sugar level", "recurrent low blood sugar levels" ], "HP:0001989": [ "fetal akinesia sequence", "early severe fetal akinesia sequence", "early severe foetal akinesia sequence", "fetal akinesia", "foetal akinesia", "foetal akinesia sequence" ], "HP:0001991": [ "aplasia / hypoplasia of toe", "absent / hypoplastic toe", "absent / hypoplastic toes", "absent / small toe", "absent / underdevelop toe", "absent / underdeveloped toe", "aplastic / hypoplastic toe phalanx", "aplastic / hypoplastic toe phalanges" ], "HP:0001992": [ "organic aciduria" ], "HP:0001993": [ "ketoacidosis" ], "HP:0001994": [ "renal fanconi syndrome", "'de toni - fanconi - debre ' syndrome", "renal tubular fanconi syndrome" ], "HP:0001995": [ "hyperchloremic acidosis" ], "HP:0001996": [ "chronic metabolic acidosis" ], "HP:0001997": [ "gout", "gouty arthritis" ], "HP:0001368": [ "gout", "gouty arthritis" ], "HP:0001998": [ "neonatal hypoglycemia", "low blood sugar in newborn" ], "HP:0001999": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0002004": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0002260": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0004643": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0004649": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0004652": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0004655": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0004675": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0005124": [ "abnormal facial shape", "abnormal morphology of the face", "deformity of face", "distinctive facies", "distortion of face", "dysmorphic facial feature", "dysmorphic facial features", "dysmorphic facies", "facial dysmorphism", "funny look face", "funny looking face", "malformation of face", "unusual facial appearance", "unusual facies" ], "HP:0002000": [ "short columella", "columella , short", "decreased length of columella", "hypoplasia of columella" ], "HP:0002002": [ "deep philtrum", "depressed philtrum", "increase depth of philtrum", "increased depth of philtrum", "philtrum , deep", "prominent philtrum", "pronounce philtrum", "pronounced philtrum" ], "HP:0000305": [ "deep philtrum", "depressed philtrum", "increase depth of philtrum", "increased depth of philtrum", "philtrum , deep", "prominent philtrum", "pronounce philtrum", "pronounced philtrum" ], "HP:0004654": [ "deep philtrum", "depressed philtrum", "increase depth of philtrum", "increased depth of philtrum", "philtrum , deep", "prominent philtrum", "pronounce philtrum", "pronounced philtrum" ], "HP:0002003": [ "large forehead", "hyperplasia of forehead", "hypertrophy of forehead", "increase size of forehead", "increased size of forehead", "increase size of frontal region of face", "increased size of frontal region of face" ], "HP:0002006": [ "facial cleft", "cleft of the face", "facial clefts", "tessier facial cleft" ], "HP:0002007": [ "frontal bossing", "frontal protruberance", "skull bossing" ], "HP:0000254": [ "frontal bossing", "frontal protruberance", "skull bossing" ], "HP:0000333": [ "frontal bossing", "frontal protruberance", "skull bossing" ], "HP:0001358": [ "frontal bossing", "frontal protruberance", "skull bossing" ], "HP:0001359": [ "frontal bossing", "frontal protruberance", "skull bossing" ], "HP:0002009": [ "potter facies" ], "HP:0002010": [ "narrow maxilla", "decrease breadth of upper jaw bone", "decreased breadth of upper jaw bones", "decreased transverse dimension of maxilla", "decrease width of maxilla", "decreased width of maxilla", "decrease width of upper jaw bone", "decreased width of upper jaw bones", "narrow upper jaw bone", "narrow upper jaw bones", "transverse hypoplasia of maxilla", "transverse maxillary deficiency", "transverse maxillary insufficiency" ], "HP:0002011": [ "morphological central nervous system abnormality", "abnormality of the central nervous system", "central nervous system disease", "morphological abnormality of the central nervous system", "morphological abnormality of the cns" ], "HP:0002405": [ "morphological central nervous system abnormality", "abnormality of the central nervous system", "central nervous system disease", "morphological abnormality of the central nervous system", "morphological abnormality of the cns" ], "HP:0002413": [ "morphological central nervous system abnormality", "abnormality of the central nervous system", "central nervous system disease", "morphological abnormality of the central nervous system", "morphological abnormality of the cns" ], "HP:0002481": [ "morphological central nervous system abnormality", "abnormality of the central nervous system", "central nervous system disease", "morphological abnormality of the central nervous system", "morphological abnormality of the cns" ], "HP:0007319": [ "morphological central nervous system abnormality", "abnormality of the central nervous system", "central nervous system disease", "morphological abnormality of the central nervous system", "morphological abnormality of the cns" ], "HP:0002012": [ "abnormality of the abdominal organ", "abnormality of the abdominal organs", "gastrointestinal tract defect", "gastrointestinal tract defects" ], "HP:0002013": [ "vomit", "vomiting", "emesis", "throw up", "throwing up" ], "HP:0002014": [ "diarrhea", "diarrhoea", "watery stool" ], "HP:0002015": [ "dysphagia", "deglutition disorder", "difficulty swallow", "difficulty swallowing", "poor swallowing", "swallow difficulty", "swallowing difficulties", "swallowing difficulty" ], "HP:0002569": [ "dysphagia", "deglutition disorder", "difficulty swallow", "difficulty swallowing", "poor swallowing", "swallow difficulty", "swallowing difficulties", "swallowing difficulty" ], "HP:0002017": [ "nausea and vomiting" ], "HP:0002018": [ "nausea" ], "HP:0002019": [ "constipation", "costiveness", "dyschezia" ], "HP:0002241": [ "constipation", "costiveness", "dyschezia" ], "HP:0003786": [ "constipation", "costiveness", "dyschezia" ], "HP:0002020": [ "gastroesophageal reflux", "acid reflux", "acid reflux disease", "gastro - esophageal reflux", "gastro - oesophageal reflux", "gastroesophageal reflux disease", "heartburn" ], "HP:0004793": [ "gastroesophageal reflux", "acid reflux", "acid reflux disease", "gastro - esophageal reflux", "gastro - oesophageal reflux", "gastroesophageal reflux disease", "heartburn" ], "HP:0002021": [ "pyloric stenosis" ], "HP:0002023": [ "anal atresia", "absent anus", "imperforate anus" ], "HP:0001550": [ "anal atresia", "absent anus", "imperforate anus" ], "HP:0002024": [ "malabsorption", "intestinal malabsorption" ], "HP:0008270": [ "malabsorption", "intestinal malabsorption" ], "HP:0002025": [ "anal stenosis", "narrowing of anal opening" ], "HP:0002027": [ "abdominal pain", "abdominal discomfort", "gastro pain", "gastrointestinal pain", "pain in stomach", "stomach pain", "upset stomach" ], "HP:0002028": [ "chronic diarrhea", "chronic diarrhoea", "diarrhea , recurrent", "recurrent diarrhea", "recurrent diarrhoea" ], "HP:0002031": [ "abnormal esophagus morphology", "abnormal oesophagus morphology", "abnormality of esophagus structure", "abnormality of oesophagus structure", "anomaly of the esophagus", "anomaly of the oesophagus" ], "HP:0002032": [ "esophageal atresia", "birth defect in which part of esophagus do not develop", "birth defect in which part of esophagus did not develop", "birth defect in which part of oesophagus do not develop", "birth defect in which part of oesophagus did not develop" ], "HP:0002033": [ "poor suck", "poor sucking", "suck weakness", "sucking weakness" ], "HP:0002034": [ "abnormal rectum morphology", "abnormality of the rectum", "anomaly of the rectum" ], "HP:0002035": [ "rectal prolapse", "rectal prolapsed", "rectum protrudes through anus" ], "HP:0002036": [ "hiatus hernia", "hiatal hernia", "stomach hernia" ], "HP:0002037": [ "inflammation of the large intestine", "inflammatory bowel disease" ], "HP:0002038": [ "protein avoidance" ], "HP:0002039": [ "anorexia" ], "HP:0002040": [ "esophageal varix", "enlarge vein in esophagus", "enlarged vein in esophagus", "enlarge vein in oesophagus", "enlarged vein in oesophagus", "esophageal varices" ], "HP:0002041": [ "intractable diarrhea", "intractable diarrhoea" ], "HP:0002043": [ "esophageal stricture", "narrowing of esophagus due to inflammation and scar tissue", "narrowing of oesophagus due to inflammation and scar tissue" ], "HP:0002044": [ "zollinger - ellison syndrome" ], "HP:0002045": [ "hypothermia", "abnormally low body temperature" ], "HP:0002046": [ "heat intolerance", "intolerance to heat and fever", "intolerance to heat and fevers" ], "HP:0002047": [ "malignant hyperthermia", "malignant hyperthermia with anaesthesia", "malignant hyperthermia with anesthesia" ], "HP:0004896": [ "malignant hyperthermia", "malignant hyperthermia with anaesthesia", "malignant hyperthermia with anesthesia" ], "HP:0002048": [ "renal cortical atrophy" ], "HP:0002049": [ "proximal renal tubular acidosis", "proximal tubular acidosis", "renal tubular acidosis , proximal", "renal tubular acidosis , type ii" ], "HP:0002050": [ "macroorchidism , postpubertal" ], "HP:0002054": [ "heavy supraorbital ridge", "heavy supraorbital ridges", "heavy brow of the face" ], "HP:0002055": [ "curve linear dimple below the low lip", "curved linear dimple below the lower lip" ], "HP:0002056": [ "abnormality of the glabella", "abnormality of the area between the eyebrow", "abnormality of the area between the eyebrows", "deformity of the area between the eyebrow", "deformity of the area between the eyebrows", "glabellar abnormality", "malformation of the area between the eyebrow", "malformation of the area between the eyebrows" ], "HP:0002057": [ "prominent glabella", "convex glabella", "hyperplasia of glabella", "prominent area between the eyebrow", "prominent area between the eyebrows", "protrude area between the eyebrow", "protruding area between the eyebrows" ], "HP:0002058": [ "myopathic facies", "myopathic face", "myopathic facial appearance" ], "HP:0004647": [ "myopathic facies", "myopathic face", "myopathic facial appearance" ], "HP:0002059": [ "cerebral atrophy", "degeneration of cerebrum", "supratentorial atrophy" ], "HP:0002422": [ "cerebral atrophy", "degeneration of cerebrum", "supratentorial atrophy" ], "HP:0006890": [ "cerebral atrophy", "degeneration of cerebrum", "supratentorial atrophy" ], "HP:0002060": [ "abnormal cerebral morphology", "abnormality of the cerebrum", "abnormality of the telencephalon", "cerebral lesion" ], "HP:0002061": [ "low limb spasticity", "lower limb spasticity" ], "HP:0002062": [ "morphological abnormality of the pyramidal tract", "abnormality of the pyramidal tract", "abnormality of the pyramidal tracts", "pyramidal tract disease" ], "HP:0012445": [ "morphological abnormality of the pyramidal tract", "abnormality of the pyramidal tract", "abnormality of the pyramidal tracts", "pyramidal tract disease" ], "HP:0002063": [ "rigidity", "muscle rigidity" ], "HP:0002064": [ "spastic gait", "spastic walk" ], "HP:0002066": [ "gait ataxia", "ataxia of gait", "ataxic gait", "inability to coordinate movement when walk", "inability to coordinate movements when walking" ], "HP:0002379": [ "gait ataxia", "ataxia of gait", "ataxic gait", "inability to coordinate movement when walk", "inability to coordinate movements when walking" ], "HP:0002067": [ "bradykinesia", "slow movement", "slow movements", "slowness of movement", "slowness of movements" ], "HP:0002068": [ "neuromuscular dysphagia" ], "HP:0002069": [ "bilateral tonic - clonic seizure", "bilateral convulsive seizure", "bilateral convulsive seizures", "generalise convulsion", "generalised convulsion", "generalise tonic - clonic seizure ( without specification of onset )", "generalised tonic - clonic seizure ( without specification of onset )", "generalize convulsion", "generalized convulsion", "generalize tonic - clonic seizure ( without specification of onset )", "generalized tonic - clonic seizure ( without specification of onset )", "grand mal", "grand mal seizure", "grand mal seizures", "seizure , tonic - clonic", "seizures , tonic - clonic", "tonic - clonic convulsion", "tonic - clonic convulsions" ], "HP:0001306": [ "bilateral tonic - clonic seizure", "bilateral convulsive seizure", "bilateral convulsive seizures", "generalise convulsion", "generalised convulsion", "generalise tonic - clonic seizure ( without specification of onset )", "generalised tonic - clonic seizure ( without specification of onset )", "generalize convulsion", "generalized convulsion", "generalize tonic - clonic seizure ( without specification of onset )", "generalized tonic - clonic seizure ( without specification of onset )", "grand mal", "grand mal seizure", "grand mal seizures", "seizure , tonic - clonic", "seizures , tonic - clonic", "tonic - clonic convulsion", "tonic - clonic convulsions" ], "HP:0002407": [ "bilateral tonic - clonic seizure", "bilateral convulsive seizure", "bilateral convulsive seizures", "generalise convulsion", "generalised convulsion", "generalise tonic - clonic seizure ( without specification of onset )", "generalised tonic - clonic seizure ( without specification of onset )", "generalize convulsion", "generalized convulsion", "generalize tonic - clonic seizure ( without specification of onset )", "generalized tonic - clonic seizure ( without specification of onset )", "grand mal", "grand mal seizure", "grand mal seizures", "seizure , tonic - clonic", "seizures , tonic - clonic", "tonic - clonic convulsion", "tonic - clonic convulsions" ], "HP:0007252": [ "bilateral tonic - clonic seizure", "bilateral convulsive seizure", "bilateral convulsive seizures", "generalise convulsion", "generalised convulsion", "generalise tonic - clonic seizure ( without specification of onset )", "generalised tonic - clonic seizure ( without specification of onset )", "generalize convulsion", "generalized convulsion", "generalize tonic - clonic seizure ( without specification of onset )", "generalized tonic - clonic seizure ( without specification of onset )", "grand mal", "grand mal seizure", "grand mal seizures", "seizure , tonic - clonic", "seizures , tonic - clonic", "tonic - clonic convulsion", "tonic - clonic convulsions" ], "HP:0002070": [ "limb ataxia", "appendicular ataxia" ], "HP:0002071": [ "abnormality of extrapyramidal motor function", "extrapyramidal dysfunction", "extrapyramidal sign", "extrapyramidal signs", "extrapyramidal symptom", "extrapyramidal symptoms", "extrapyramidal syndrome", "extrapyramidal tract sign", "extrapyramidal tract signs" ], "HP:0006810": [ "abnormality of extrapyramidal motor function", "extrapyramidal dysfunction", "extrapyramidal sign", "extrapyramidal signs", "extrapyramidal symptom", "extrapyramidal symptoms", "extrapyramidal syndrome", "extrapyramidal tract sign", "extrapyramidal tract signs" ], "HP:0007113": [ "abnormality of extrapyramidal motor function", "extrapyramidal dysfunction", "extrapyramidal sign", "extrapyramidal signs", "extrapyramidal symptom", "extrapyramidal symptoms", "extrapyramidal syndrome", "extrapyramidal tract sign", "extrapyramidal tract signs" ], "HP:0002072": [ "chorea", "choreatic disease", "choreic movement", "choreic movements", "choreiform movement", "choreiform movements" ], "HP:0002397": [ "chorea", "choreatic disease", "choreic movement", "choreic movements", "choreiform movement", "choreiform movements" ], "HP:0002073": [ "progressive cerebellar ataxia", "cerebellar ataxia , progressive", "progressive ataxia" ], "HP:0001329": [ "progressive cerebellar ataxia", "cerebellar ataxia , progressive", "progressive ataxia" ], "HP:0002496": [ "progressive cerebellar ataxia", "cerebellar ataxia , progressive", "progressive ataxia" ], "HP:0007331": [ "progressive cerebellar ataxia", "cerebellar ataxia , progressive", "progressive ataxia" ], "HP:0002074": [ "increase neuronal autofluorescent lipopigment", "increased neuronal autofluorescent lipopigment", "neuronal lipopigments" ], "HP:0002075": [ "dysdiadochokinesis", "difficulty perform quick and alternate movement", "difficulty performing quick and alternating movements", "dysdiadochokinesia" ], "HP:0002426": [ "dysdiadochokinesis", "difficulty perform quick and alternate movement", "difficulty performing quick and alternating movements", "dysdiadochokinesia" ], "HP:0002076": [ "migraine", "intermittent migraine headache", "intermittent migraine headaches", "migraine headache", "migraine headaches" ], "HP:0007194": [ "migraine", "intermittent migraine headache", "intermittent migraine headaches", "migraine headache", "migraine headaches" ], "HP:0002077": [ "migraine with aura" ], "HP:0002078": [ "truncal ataxia", "instability or lack of coordination of central trunk muscle", "instability or lack of coordination of central trunk muscles", "trunk ataxia" ], "HP:0007014": [ "truncal ataxia", "instability or lack of coordination of central trunk muscle", "instability or lack of coordination of central trunk muscles", "trunk ataxia" ], "HP:0002079": [ "hypoplasia of the corpus callosum", "corpus callosum hypoplasia", "hypoplasia of corpus callosum", "hypoplastic corpus callosum", "underdevelopment of part of brain call corpus callosum", "underdevelopment of part of brain called corpus callosum" ], "HP:0002319": [ "hypoplasia of the corpus callosum", "corpus callosum hypoplasia", "hypoplasia of corpus callosum", "hypoplastic corpus callosum", "underdevelopment of part of brain call corpus callosum", "underdevelopment of part of brain called corpus callosum" ], "HP:0007026": [ "hypoplasia of the corpus callosum", "corpus callosum hypoplasia", "hypoplasia of corpus callosum", "hypoplastic corpus callosum", "underdevelopment of part of brain call corpus callosum", "underdevelopment of part of brain called corpus callosum" ], "HP:0002080": [ "intention tremor", "cerebellar tremor", "terminal tremor" ], "HP:0002083": [ "migraine without aura" ], "HP:0002084": [ "encephalocele", "bifid skull", "cranium bifidum" ], "HP:0002736": [ "encephalocele", "bifid skull", "cranium bifidum" ], "HP:0100664": [ "encephalocele", "bifid skull", "cranium bifidum" ], "HP:0002085": [ "occipital encephalocele", "brain tissue stick out through back of skull", "brain tissue sticks out through back of skull", "occipital meningoencephalocele", "posterior encephalocele" ], "HP:0007051": [ "occipital encephalocele", "brain tissue stick out through back of skull", "brain tissue sticks out through back of skull", "occipital meningoencephalocele", "posterior encephalocele" ], "HP:0007357": [ "occipital encephalocele", "brain tissue stick out through back of skull", "brain tissue sticks out through back of skull", "occipital meningoencephalocele", "posterior encephalocele" ], "HP:0002086": [ "abnormality of the respiratory system", "respiratory abnormality" ], "HP:0002087": [ "abnormality of the upper respiratory tract", "upper respiratory tract issue", "upper respiratory tract issues" ], "HP:0002088": [ "abnormal lung morphology", "abnormality of lung structure", "abnormality of the lung", "abnormality of the lungs", "abnormally shape lung", "abnormally shaped lung", "lung disease", "unusal lung shape" ], "HP:0002089": [ "pulmonary hypoplasia", "hypoplastic lung", "hypoplastic lungs", "lung hypoplasia", "poorly develop lung", "poorly developed lungs", "small lung", "underdeveloped lung" ], "HP:0002090": [ "pneumonia" ], "HP:0002091": [ "restrictive ventilatory defect", "restrictive deficit on pulmonary function test", "restrictive deficit on pulmonary function testing", "restrictive deficit on pulmonary function tests", "restrictive lung disease", "restrictive respiratory disease", "restrictive respiratory insufficiency", "restrictive respiratory syndrome", "spirometric restriction", "stiff lung or chest wall causing decrease lung volume", "stiff lung or chest wall causing decreased lung volume", "obsolete restrictive deficit on pulmonary function test", "obsolete restrictive deficit on pulmonary function testing" ], "HP:0002111": [ "restrictive ventilatory defect", "restrictive deficit on pulmonary function test", "restrictive deficit on pulmonary function testing", "restrictive deficit on pulmonary function tests", "restrictive lung disease", "restrictive respiratory disease", "restrictive respiratory insufficiency", "restrictive respiratory syndrome", "spirometric restriction", "stiff lung or chest wall causing decrease lung volume", "stiff lung or chest wall causing decreased lung volume", "obsolete restrictive deficit on pulmonary function test", "obsolete restrictive deficit on pulmonary function testing" ], "HP:0002092": [ "pulmonary arterial hypertension", "increase blood pressure in blood vessel of lung", "increased blood pressure in blood vessels of lungs", "primary pulmonary hypertension", "pulmonary artery hypertension" ], "HP:0006546": [ "pulmonary arterial hypertension", "increase blood pressure in blood vessel of lung", "increased blood pressure in blood vessels of lungs", "primary pulmonary hypertension", "pulmonary artery hypertension" ], "HP:0002093": [ "respiratory insufficiency", "progressive respiratory failure", "respiratory function loss", "respiratory impairment" ], "HP:0004893": [ "respiratory insufficiency", "progressive respiratory failure", "respiratory function loss", "respiratory impairment" ], "HP:0005937": [ "respiratory insufficiency", "progressive respiratory failure", "respiratory function loss", "respiratory impairment" ], "HP:0006542": [ "respiratory insufficiency", "progressive respiratory failure", "respiratory function loss", "respiratory impairment" ], "HP:0002094": [ "dyspnea", "abnormal breathing", "breathe difficulty", "breathing difficulty", "difficult to breathe", "difficulty breathe", "difficulty breathing", "dyspnoea", "pant", "panting", "shortness of breath", "trouble breathe", "trouble breathing" ], "HP:0002097": [ "emphysema", "pulmonary emphysema" ], "HP:0006534": [ "emphysema", "pulmonary emphysema" ], "HP:0002098": [ "respiratory distress", "breathe difficulty", "breathing difficulties", "labor breathing", "labored breathing", "respiratory difficulty", "respiratory difficulties", "obsolete respiratory difficulty", "obsolete respiratory difficulties" ], "HP:0002880": [ "respiratory distress", "breathe difficulty", "breathing difficulties", "labor breathing", "labored breathing", "respiratory difficulty", "respiratory difficulties", "obsolete respiratory difficulty", "obsolete respiratory difficulties" ], "HP:0002099": [ "asthma", "bronchial asthma", "reactive airway disease" ], "HP:0002112": [ "asthma", "bronchial asthma", "reactive airway disease" ], "HP:0002100": [ "recurrent aspiration pneumonia", "recurrent pneumonia due to aspiration ," ], "HP:0002106": [ "recurrent aspiration pneumonia", "recurrent pneumonia due to aspiration ," ], "HP:0002101": [ "abnormal lung lobation", "defective lung lobation", "lung segmentation defect", "lung segmentation defects", "obsolete lung segmentation defect", "obsolete lung segmentation defects" ], "HP:0006525": [ "abnormal lung lobation", "defective lung lobation", "lung segmentation defect", "lung segmentation defects", "obsolete lung segmentation defect", "obsolete lung segmentation defects" ], "HP:0009753": [ "abnormal lung lobation", "defective lung lobation", "lung segmentation defect", "lung segmentation defects", "obsolete lung segmentation defect", "obsolete lung segmentation defects" ], "HP:0002102": [ "pleuritis", "inflammation of tissue line lung and chest", "inflammation of tissues lining lungs and chest", "pleurisy" ], "HP:0002103": [ "abnormal pleura morphology", "abnormality of the pleura" ], "HP:0002104": [ "apnea", "absence of spontaneous respiration", "apneic episode", "apneic episodes", "apnoea" ], "HP:0005936": [ "apnea", "absence of spontaneous respiration", "apneic episode", "apneic episodes", "apnoea" ], "HP:0005958": [ "apnea", "absence of spontaneous respiration", "apneic episode", "apneic episodes", "apnoea" ], "HP:0002105": [ "hemoptysis", "cough up blood", "coughing up blood", "cough up blood or blood - stain mucus", "coughing up blood or blood - stained mucus", "haemoptysis" ], "HP:0002107": [ "pneumothorax", "collapse lung", "collapsed lung" ], "HP:0002108": [ "spontaneous pneumothorax", "spontaneous collapse lung", "spontaneous collapsed lung" ], "HP:0002109": [ "obsolete abnormality of the bronchus", "obsolete abnormality of the bronchi", "abnormal bronchus morphology", "abnormality of the bronchus", "abnormality of the bronchi" ], "HP:0002110": [ "bronchiectasis", "permanent enlargement of the airway of the lung", "permanent enlargement of the airways of the lungs" ], "HP:0002113": [ "pulmonary infiltrates", "lung infiltrates", "pulmonic infiltration" ], "HP:0002118": [ "abnormal cerebral ventricle morphology", "abnormality of the cerebral ventricle", "abnormality of the cerebral ventricles" ], "HP:0002119": [ "ventriculomegaly", "cerebral ventricular dilatation", "dilate cerebral ventricle", "dilated cerebral ventricle", "dilated cerebral ventricles", "dilate ventricle", "dilated ventricles", "enlarged cerebral ventricle", "enlarged cerebral ventricles", "enlarge ventricle", "enlarged ventricles", "enlarge ventricular system", "enlarged ventricular system", "large cerebral ventricle and cisterna", "large cerebral ventricles and cisternae", "ventricular dilatation" ], "HP:0002447": [ "ventriculomegaly", "cerebral ventricular dilatation", "dilate cerebral ventricle", "dilated cerebral ventricle", "dilated cerebral ventricles", "dilate ventricle", "dilated ventricles", "enlarged cerebral ventricle", "enlarged cerebral ventricles", "enlarge ventricle", "enlarged ventricles", "enlarge ventricular system", "enlarged ventricular system", "large cerebral ventricle and cisterna", "large cerebral ventricles and cisternae", "ventricular dilatation" ], "HP:0005691": [ "ventriculomegaly", "cerebral ventricular dilatation", "dilate cerebral ventricle", "dilated cerebral ventricle", "dilated cerebral ventricles", "dilate ventricle", "dilated ventricles", "enlarged cerebral ventricle", "enlarged cerebral ventricles", "enlarge ventricle", "enlarged ventricles", "enlarge ventricular system", "enlarged ventricular system", "large cerebral ventricle and cisterna", "large cerebral ventricles and cisternae", "ventricular dilatation" ], "HP:0007071": [ "ventriculomegaly", "cerebral ventricular dilatation", "dilate cerebral ventricle", "dilated cerebral ventricle", "dilated cerebral ventricles", "dilate ventricle", "dilated ventricles", "enlarged cerebral ventricle", "enlarged cerebral ventricles", "enlarge ventricle", "enlarged ventricles", "enlarge ventricular system", "enlarged ventricular system", "large cerebral ventricle and cisterna", "large cerebral ventricles and cisternae", "ventricular dilatation" ], "HP:0002120": [ "cerebral cortical atrophy", "cerebral cortex atrophy", "cortical atrophy", "decrease in size of the outer layer of the brain due to loss of brain cell", "decrease in size of the outer layer of the brain due to loss of brain cells" ], "HP:0006823": [ "cerebral cortical atrophy", "cerebral cortex atrophy", "cortical atrophy", "decrease in size of the outer layer of the brain due to loss of brain cell", "decrease in size of the outer layer of the brain due to loss of brain cells" ], "HP:0006835": [ "cerebral cortical atrophy", "cerebral cortex atrophy", "cortical atrophy", "decrease in size of the outer layer of the brain due to loss of brain cell", "decrease in size of the outer layer of the brain due to loss of brain cells" ], "HP:0002121": [ "generalize non - motor ( absence ) seizure", "generalized non - motor ( absence ) seizure", "absence seizure", "absence seizures", "brief seizure with star spell", "brief seizures with staring spells", "generalise non - motor ( absence ) seizure", "generalised non - motor ( absence ) seizure", "generalise non - motor seizure", "generalised non - motor seizure", "petit mal", "petit mal seizure", "petit mal seizures", "obsolete absence seizure with special feature", "obsolete absence seizures with special features" ], "HP:0007143": [ "generalize non - motor ( absence ) seizure", "generalized non - motor ( absence ) seizure", "absence seizure", "absence seizures", "brief seizure with star spell", "brief seizures with staring spells", "generalise non - motor ( absence ) seizure", "generalised non - motor ( absence ) seizure", "generalise non - motor seizure", "generalised non - motor seizure", "petit mal", "petit mal seizure", "petit mal seizures", "obsolete absence seizure with special feature", "obsolete absence seizures with special features" ], "HP:0011148": [ "generalize non - motor ( absence ) seizure", "generalized non - motor ( absence ) seizure", "absence seizure", "absence seizures", "brief seizure with star spell", "brief seizures with staring spells", "generalise non - motor ( absence ) seizure", "generalised non - motor ( absence ) seizure", "generalise non - motor seizure", "generalised non - motor seizure", "petit mal", "petit mal seizure", "petit mal seizures", "obsolete absence seizure with special feature", "obsolete absence seizures with special features" ], "HP:0002123": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0006869": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0006902": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0007075": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0007202": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0007284": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0007294": [ "generalize myoclonic seizure", "generalized myoclonic seizure", "generalise epileptic myoclonus", "generalised epileptic myoclonus", "generalise myoclonic seizure", "generalised myoclonic seizure", "generalised myoclonic seizures", "generalize epileptic myoclonus", "generalized epileptic myoclonus", "generalized myoclonic seizures", "myoclonic epilepsy , progressive", "myoclonus seizure", "myoclonus seizures" ], "HP:0002126": [ "polymicrogyria", "more groove in brain", "more grooves in brain" ], "HP:0002127": [ "abnormal upper motor neuron morphology", "abnormal shape of upper motor neuron" ], "HP:0002131": [ "episodic ataxia", "intermittent cerebellar ataxia", "paroxysmal ataxia" ], "HP:0006862": [ "episodic ataxia", "intermittent cerebellar ataxia", "paroxysmal ataxia" ], "HP:0007152": [ "episodic ataxia", "intermittent cerebellar ataxia", "paroxysmal ataxia" ], "HP:0007214": [ "episodic ataxia", "intermittent cerebellar ataxia", "paroxysmal ataxia" ], "HP:0002132": [ "porencephalic cyst", "cavity within brain" ], "HP:0002133": [ "status epilepticus", "prolonged seizure", "repeat seizure without recovery", "repeated seizure without recovery", "repeat seizure without recovery between them", "repeated seizures without recovery between them" ], "HP:0002134": [ "abnormality of the basal ganglion", "abnormality of the basal ganglia", "anomaly of the basal ganglion", "anomaly of the basal ganglia", "basal ganglion disease", "basal ganglia disease" ], "HP:0006952": [ "abnormality of the basal ganglion", "abnormality of the basal ganglia", "anomaly of the basal ganglion", "anomaly of the basal ganglia", "basal ganglion disease", "basal ganglia disease" ], "HP:0007257": [ "abnormality of the basal ganglion", "abnormality of the basal ganglia", "anomaly of the basal ganglion", "anomaly of the basal ganglia", "basal ganglion disease", "basal ganglia disease" ], "HP:0002135": [ "basal ganglion calcification", "basal ganglia calcification", "basal ganglia calcifications", "calcification of the basal ganglion", "calcification of the basal ganglia" ], "HP:0002485": [ "basal ganglion calcification", "basal ganglia calcification", "basal ganglia calcifications", "calcification of the basal ganglion", "calcification of the basal ganglia" ], "HP:0002136": [ "broad - base gait", "broad - based gait", "broad base gait", "broad based gait", "wide base gait", "wide based gait", "wide base walk", "wide based walk", "wide - base gait", "wide - based gait" ], "HP:0002138": [ "subarachnoid hemorrhage", "subarachnoid haemorrhage" ], "HP:0002139": [ "arrhinencephaly" ], "HP:0002140": [ "ischemic stroke", "ischaemic stroke" ], "HP:0002141": [ "gait imbalance", "abnormality of balance", "abnormality of equilibrium", "imbalanced walk" ], "HP:0100683": [ "gait imbalance", "abnormality of balance", "abnormality of equilibrium", "imbalanced walk" ], "HP:0002143": [ "abnormality of the spinal cord", "spinal cord disease", "spinal cord pathology" ], "HP:0002144": [ "tether cord", "tethered cord", "occult spinal dysraphism" ], "HP:0002145": [ "frontotemporal dementia" ], "HP:0002148": [ "hypophosphatemia", "hypophosphataemia", "low blood phosphate level" ], "HP:0002149": [ "hyperuricemia", "high blood uric acid level", "hyperuricaemia" ], "HP:0002150": [ "hypercalciuria", "elevate urine calcium level", "elevated urine calcium levels", "hypercalcinuria" ], "HP:0002151": [ "increase serum lactate", "increased serum lactate", "high than normal level of lactate in blood", "higher than normal levels of lactate in blood", "increase blood lactate", "increased blood lactate" ], "HP:0003638": [ "increase serum lactate", "increased serum lactate", "high than normal level of lactate in blood", "higher than normal levels of lactate in blood", "increase blood lactate", "increased blood lactate" ], "HP:0002152": [ "hyperproteinemia" ], "HP:0002153": [ "hyperkalemia", "elevate serum potassium level", "elevated serum potassium levels" ], "HP:0002154": [ "hyperglycinemia", "elevate blood glycine level", "elevated blood glycine levels", "hyperglycinaemia" ], "HP:0002155": [ "hypertriglyceridemia", "increase circulate tg level", "increased circulating tg levels", "increase plasma tg level", "increased plasma tg levels", "increase plasma triglyceride", "increased plasma triglycerides", "increase serum triglyceride", "increased serum triglycerides", "increase triglyceride", "increased triglycerides" ], "HP:0003082": [ "hypertriglyceridemia", "increase circulate tg level", "increased circulating tg levels", "increase plasma tg level", "increased plasma tg levels", "increase plasma triglyceride", "increased plasma triglycerides", "increase serum triglyceride", "increased serum triglycerides", "increase triglyceride", "increased triglycerides" ], "HP:0008174": [ "hypertriglyceridemia", "increase circulate tg level", "increased circulating tg levels", "increase plasma tg level", "increased plasma tg levels", "increase plasma triglyceride", "increased plasma triglycerides", "increase serum triglyceride", "increased serum triglycerides", "increase triglyceride", "increased triglycerides" ], "HP:0008332": [ "hypertriglyceridemia", "increase circulate tg level", "increased circulating tg levels", "increase plasma tg level", "increased plasma tg levels", "increase plasma triglyceride", "increased plasma triglycerides", "increase serum triglyceride", "increased serum triglycerides", "increase triglyceride", "increased triglycerides" ], "HP:0002156": [ "homocystinuria", "high urine homocystine level", "high urine homocystine levels" ], "HP:0002157": [ "azotemia", "azotaemia" ], "HP:0002159": [ "heparan sulfate excretion in urine", "heparan sulphate excretion in urine" ], "HP:0002160": [ "hyperhomocystinemia", "elevate blood homocystine", "elevated blood homocystine", "homocystinemia" ], "HP:0002161": [ "hyperlysinemia", "elevate blood lysine", "elevated blood lysine" ], "HP:0002162": [ "low posterior hairline", "low hairline at back of neck", "low posterior hair line" ], "HP:0002164": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0001793": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0001794": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0001797": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0008387": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0008403": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0008409": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0008412": [ "nail dysplasia", "atypical nail growth", "dysplastic nail", "dysplastic nails", "onychodysplasia" ], "HP:0002165": [ "pterygium of nail", "pterygium of nails", "nail pterygium" ], "HP:0002166": [ "impaired vibration sensation in the low limb", "impaired vibration sensation in the lower limbs", "decrease low limb vibratory sense", "decreased lower limb vibratory sense", "decreased vibratory sense in low limb", "decreased vibratory sense in lower limbs", "decreased vibratory sense in the low extremity", "decreased vibratory sense in the lower extremities", "decreased vibratory sense in the low limb", "decreased vibratory sense in the lower limbs", "diminished vibratory sensation in the leg", "diminished vibratory sensation in the legs", "distal sensory loss , especially vibratory sense", "distal vibratory impairment of the low limb", "distal vibratory impairment of the lower limbs" ], "HP:0002167": [ "neurological speech impairment", "speech disorder", "speech impairment", "speech impediment" ], "HP:0002168": [ "scan speech", "scanning speech", "explosive speech" ], "HP:0002169": [ "clonus", "involuntary rhythmic muscular contraction and relaxation", "involuntary rhythmic muscular contractions and relaxations" ], "HP:0002170": [ "intracranial hemorrhage", "bleed within the skull", "bleeding within the skull", "intracranial haemorrhage" ], "HP:0002171": [ "gliosis", "cerebral gliosis", "excess astrocyte in brain", "excess astrocytes in brain" ], "HP:0002172": [ "postural instability", "abnormal retropulsion test", "balance impairment", "imbalance" ], "HP:0002173": [ "hypoglycemic seizure", "hypoglycemic seizures" ], "HP:0002174": [ "postural tremor", "tremor , postural" ], "HP:0006925": [ "postural tremor", "tremor , postural" ], "HP:0007197": [ "postural tremor", "tremor , postural" ], "HP:0002176": [ "spinal cord compression", "pressure on spinal cord" ], "HP:0002179": [ "opisthotonus", "opisthotonos" ], "HP:0002180": [ "neurodegeneration", "neuro - degenerative disease", "neurodegenerative disease", "ongoing loss of nerve cell", "ongoing loss of nerve cells", "progressive neurodegenerative disorder" ], "HP:0002181": [ "cerebral edema", "brain edema", "brain oedema", "brain swelling", "cerebral oedema", "swell of brain", "swelling of brain" ], "HP:0002183": [ "phonophobia", "fear of loud sound", "fear of loud sounds" ], "HP:0002185": [ "neurofibrillary tangle", "neurofibrillary tangles", "neurofibrillary tangle compose of disordered microtubule in neuron", "neurofibrillary tangles composed of disordered microtubules in neurons", "paired helical filament", "paired helical filaments" ], "HP:0003132": [ "neurofibrillary tangle", "neurofibrillary tangles", "neurofibrillary tangle compose of disordered microtubule in neuron", "neurofibrillary tangles composed of disordered microtubules in neurons", "paired helical filament", "paired helical filaments" ], "HP:0007070": [ "neurofibrillary tangle", "neurofibrillary tangles", "neurofibrillary tangle compose of disordered microtubule in neuron", "neurofibrillary tangles composed of disordered microtubules in neurons", "paired helical filament", "paired helical filaments" ], "HP:0002186": [ "apraxia", "apraxias" ], "HP:0002187": [ "intellectual disability , profound", "iq less than 20", "mental retardation , profound", "profound mental retardation" ], "HP:0002188": [ "delay cns myelination", "delayed cns myelination", "delay in central nervous system myelination" ], "HP:0005770": [ "delay cns myelination", "delayed cns myelination", "delay in central nervous system myelination" ], "HP:0006974": [ "delay cns myelination", "delayed cns myelination", "delay in central nervous system myelination" ], "HP:0007300": [ "delay cns myelination", "delayed cns myelination", "delay in central nervous system myelination" ], "HP:0002190": [ "choroid plexus cyst" ], "HP:0002191": [ "progressive spasticity", "spasticity , progressive" ], "HP:0002193": [ "pseudobulbar behavioral symptom", "pseudobulbar behavioral symptoms", "pseudobulbar behavioural symptom", "pseudobulbar behavioural symptoms" ], "HP:0002194": [ "delay gross motor development", "delayed gross motor development", "delay gross motor skill", "delayed gross motor skills", "delay motor skill", "delayed motor skills", "developmental delay , gross motor", "gross motor delay", "limited gross motor development" ], "HP:0006905": [ "delay gross motor development", "delayed gross motor development", "delay gross motor skill", "delayed gross motor skills", "delay motor skill", "delayed motor skills", "developmental delay , gross motor", "gross motor delay", "limited gross motor development" ], "HP:0007046": [ "delay gross motor development", "delayed gross motor development", "delay gross motor skill", "delayed gross motor skills", "delay motor skill", "delayed motor skills", "developmental delay , gross motor", "gross motor delay", "limited gross motor development" ], "HP:0008973": [ "delay gross motor development", "delayed gross motor development", "delay gross motor skill", "delayed gross motor skills", "delay motor skill", "delayed motor skills", "developmental delay , gross motor", "gross motor delay", "limited gross motor development" ], "HP:0002195": [ "dysgenesis of the cerebellar vermis" ], "HP:0002196": [ "myelopathy" ], "HP:0002197": [ "generalize - onset seizure", "generalized - onset seizure", "generalise onset seizure", "generalised onset seizure", "generalise seizure", "generalised seizures", "generalise - onset seizure", "generalised - onset seizure", "generalize onset seizure", "generalized onset seizure", "generalize seizure", "generalized seizures", "generalized - onset seizures", "primary generalise seizure", "primary generalised seizure", "primary generalize seizure", "primary generalized seizure" ], "HP:0002409": [ "generalize - onset seizure", "generalized - onset seizure", "generalise onset seizure", "generalised onset seizure", "generalise seizure", "generalised seizures", "generalise - onset seizure", "generalised - onset seizure", "generalize onset seizure", "generalized onset seizure", "generalize seizure", "generalized seizures", "generalized - onset seizures", "primary generalise seizure", "primary generalised seizure", "primary generalize seizure", "primary generalized seizure" ], "HP:0007114": [ "generalize - onset seizure", "generalized - onset seizure", "generalise onset seizure", "generalised onset seizure", "generalise seizure", "generalised seizures", "generalise - onset seizure", "generalised - onset seizure", "generalize onset seizure", "generalized onset seizure", "generalize seizure", "generalized seizures", "generalized - onset seizures", "primary generalise seizure", "primary generalised seizure", "primary generalize seizure", "primary generalized seizure" ], "HP:0007339": [ "generalize - onset seizure", "generalized - onset seizure", "generalise onset seizure", "generalised onset seizure", "generalise seizure", "generalised seizures", "generalise - onset seizure", "generalised - onset seizure", "generalize onset seizure", "generalized onset seizure", "generalize seizure", "generalized seizures", "generalized - onset seizures", "primary generalise seizure", "primary generalised seizure", "primary generalize seizure", "primary generalized seizure" ], "HP:0002198": [ "dilate fourth ventricle", "dilated fourth ventricle", "enlarge fourth ventricle", "enlarged fourth ventricle" ], "HP:0007223": [ "dilate fourth ventricle", "dilated fourth ventricle", "enlarge fourth ventricle", "enlarged fourth ventricle" ], "HP:0002199": [ "hypocalcemic seizure", "hypocalcemic seizures", "low calcium seizure", "low calcium seizures", "seizure due to hypocalcemia", "seizures due to hypocalcemia" ], "HP:0002200": [ "pseudobulbar sign", "pseudobulbar signs", "pseudobulbar symptom", "pseudobulbar symptoms" ], "HP:0002202": [ "pleural effusion", "fluid around lung", "fluid around lungs" ], "HP:0002203": [ "respiratory paralysis" ], "HP:0002204": [ "pulmonary embolism", "blood clot in artery of lung" ], "HP:0002205": [ "recurrent respiratory infection", "recurrent respiratory infections", "frequent respiratory infection", "frequent respiratory infections", "multiple respiratory infection", "multiple respiratory infections", "respiratory infection , recurrent", "respiratory infections , recurrent", "susceptibility to respiratory infection", "susceptibility to respiratory infections" ], "HP:0002782": [ "recurrent respiratory infection", "recurrent respiratory infections", "frequent respiratory infection", "frequent respiratory infections", "multiple respiratory infection", "multiple respiratory infections", "respiratory infection , recurrent", "respiratory infections , recurrent", "susceptibility to respiratory infection", "susceptibility to respiratory infections" ], "HP:0002873": [ "recurrent respiratory infection", "recurrent respiratory infections", "frequent respiratory infection", "frequent respiratory infections", "multiple respiratory infection", "multiple respiratory infections", "respiratory infection , recurrent", "respiratory infections , recurrent", "susceptibility to respiratory infection", "susceptibility to respiratory infections" ], "HP:0002206": [ "pulmonary fibrosis" ], "HP:0006523": [ "pulmonary fibrosis" ], "HP:0002207": [ "diffuse reticular or finely nodular infiltration", "diffuse reticular or finely nodular infiltrations" ], "HP:0002208": [ "coarse hair", "coarse hair texture", "rough hair texture" ], "HP:0200078": [ "coarse hair", "coarse hair texture", "rough hair texture" ], "HP:0002209": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0002233": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0002556": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004526": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004534": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004541": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004542": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004772": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004774": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004775": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0004782": [ "sparse scalp hair", "decreased number of scalp follicle", "decreased number of scalp follicles", "hypotrichosis on scalp", "reduce / lack of hair on scalp", "reduced / lack of hair on scalp", "reduction in the number of scalp follicle", "reduction in the number of scalp follicles", "scalp hair , thin", "scalp hair , thinning", "scalp hypotrichosis", "sparse , thin scalp hair", "sparse - absent scalp hair", "thin scalp hair", "obsolete hypotrichosis of the scalp" ], "HP:0002211": [ "white forelock", "poliosis of anterior hair", "poliosis of forelock hair", "white part of hair above forehead" ], "HP:0002212": [ "curly hair" ], "HP:0002213": [ "fine hair", "fine hair shaft", "fine hair texture", "thin hair", "thin hair shaft", "thin hair texture", "thinned hair" ], "HP:0200132": [ "fine hair", "fine hair shaft", "fine hair texture", "thin hair", "thin hair shaft", "thin hair texture", "thinned hair" ], "HP:0002215": [ "sparse axillary hair", "limited armpit hair", "little underarm hair", "sparse axillary and pubic hair", "sparse scalp , axillary , and pubic hair", "sparse to absent axillary hair" ], "HP:0004514": [ "sparse axillary hair", "limited armpit hair", "little underarm hair", "sparse axillary and pubic hair", "sparse scalp , axillary , and pubic hair", "sparse to absent axillary hair" ], "HP:0004518": [ "sparse axillary hair", "limited armpit hair", "little underarm hair", "sparse axillary and pubic hair", "sparse scalp , axillary , and pubic hair", "sparse to absent axillary hair" ], "HP:0004545": [ "sparse axillary hair", "limited armpit hair", "little underarm hair", "sparse axillary and pubic hair", "sparse scalp , axillary , and pubic hair", "sparse to absent axillary hair" ], "HP:0002216": [ "premature graying of hair", "early graying", "early greying", "premature gray", "premature graying", "premature graying of the hair", "premature grey", "premature greying", "premature greying of hair", "premature greying of the hair", "premature hair gray", "premature hair graying", "premature hair grey", "premature hair greying" ], "HP:0002217": [ "slow - grow hair", "slow - growing hair", "slow grow hair", "slow growing hair", "slow rate of hair growth", "slow speed of hair growth" ], "HP:0004767": [ "slow - grow hair", "slow - growing hair", "slow grow hair", "slow growing hair", "slow rate of hair growth", "slow speed of hair growth" ], "HP:0004770": [ "slow - grow hair", "slow - growing hair", "slow grow hair", "slow growing hair", "slow rate of hair growth", "slow speed of hair growth" ], "HP:0004781": [ "slow - grow hair", "slow - growing hair", "slow grow hair", "slow growing hair", "slow rate of hair growth", "slow speed of hair growth" ], "HP:0002218": [ "silver - gray hair", "silver - gray hair color", "silver - gray hair colour", "silvery - gray hair" ], "HP:0002219": [ "facial hypertrichosis", "increase facial hair growth", "increased facial hair growth" ], "HP:0002220": [ "melanin pigment aggregation in hair shaft", "melanin pigment aggregation in hair shafts" ], "HP:0002221": [ "absent axillary hair" ], "HP:0004549": [ "absent axillary hair" ], "HP:0002223": [ "absent eyebrow", "absent eyebrows", "agenesis of eyebrow", "agenesis of eyebrows", "aplasia of eyebrow", "aplasia of eyebrows", "failure of development of eyebrow", "failure of development of eyebrows", "loss of eyebrow", "loss of eyebrows", "miss eyebrow", "missing eyebrows" ], "HP:0002224": [ "woolly hair", "afro - textured hair", "kink hair", "kinked hair", "kinky hair texture", "nappy hair texture", "wooly hair" ], "HP:0002225": [ "sparse pubic hair", "decrease sexual hair", "decreased sexual hair", "sparse to absent pubic hair" ], "HP:0004778": [ "sparse pubic hair", "decrease sexual hair", "decreased sexual hair", "sparse to absent pubic hair" ], "HP:0002226": [ "white eyebrow", "blonde eyebrow", "depigmented eyebrow", "grey eyebrow", "hypopigmented eyebrow", "pale eyebrow" ], "HP:0002228": [ "white eyebrow", "blonde eyebrow", "depigmented eyebrow", "grey eyebrow", "hypopigmented eyebrow", "pale eyebrow" ], "HP:0004536": [ "white eyebrow", "blonde eyebrow", "depigmented eyebrow", "grey eyebrow", "hypopigmented eyebrow", "pale eyebrow" ], "HP:0002227": [ "white eyelash", "white eyelashes", "blonde eyelash", "blonde eyelashes", "depigmented eyelash", "depigmented eyelashes", "grey eyelash", "grey eyelashes", "pale eyelash", "pale eyelashes" ], "HP:0002229": [ "obsolete alopecia areata", "patchy alopecia", "alopecia areata", "patchy baldness" ], "HP:0002230": [ "generalize hirsutism", "generalized hirsutism", "excessive hairiness over body", "generalise hirsutism", "generalised hirsutism" ], "HP:0002231": [ "sparse body hair", "limited body hair", "little body hair", "sparse to absent body hair" ], "HP:0002232": [ "obsolete alopecia areata", "patchy alopecia", "alopecia areata", "patchy baldness" ], "HP:0002234": [ "early balding" ], "HP:0002235": [ "pili canaliculus", "pili canaliculi" ], "HP:0002285": [ "pili canaliculus", "pili canaliculi" ], "HP:0002236": [ "frontal upsweep of hair", "cowlick", "frontal cowlick", "upswept frontal hair", "upswept frontal hair pattern", "upswept frontal hairline" ], "HP:0002239": [ "gastrointestinal hemorrhage", "gastrointestinal bleeding", "gastrointestinal haemorrhage", "gi haemorrhage", "gi hemorrhage" ], "HP:0002240": [ "hepatomegaly", "enlarge liver", "enlarged liver" ], "HP:0001393": [ "hepatomegaly", "enlarge liver", "enlarged liver" ], "HP:0001398": [ "hepatomegaly", "enlarge liver", "enlarged liver" ], "HP:0002242": [ "abnormal intestine morphology", "abnormality of the intestine", "enteropathy" ], "HP:0002628": [ "abnormal intestine morphology", "abnormality of the intestine", "enteropathy" ], "HP:0002243": [ "protein - losing enteropathy" ], "HP:0002244": [ "abnormality of the small intestine" ], "HP:0002245": [ "meckel diverticulum" ], "HP:0002246": [ "abnormal duodenum morphology", "abnormality of the duodenum" ], "HP:0002247": [ "duodenal atresia", "absence or narrowing of first part of small bowel" ], "HP:0002248": [ "hematemesis", "vomitting blood" ], "HP:0002249": [ "melena", "black faeces", "black feces" ], "HP:0002250": [ "abnormal large intestine morphology", "abnormality of the large intestine" ], "HP:0002251": [ "aganglionic megacolon", "congenital megacolon", "enlarge colon lack nerve cell", "enlarged colon lacking nerve cells", "hirschsprung disease", "hirschsprung megacolon", "megacolon" ], "HP:0002029": [ "aganglionic megacolon", "congenital megacolon", "enlarge colon lack nerve cell", "enlarged colon lacking nerve cells", "hirschsprung disease", "hirschsprung megacolon", "megacolon" ], "HP:0002030": [ "aganglionic megacolon", "congenital megacolon", "enlarge colon lack nerve cell", "enlarged colon lacking nerve cells", "hirschsprung disease", "hirschsprung megacolon", "megacolon" ], "HP:0002606": [ "aganglionic megacolon", "congenital megacolon", "enlarge colon lack nerve cell", "enlarged colon lacking nerve cells", "hirschsprung disease", "hirschsprung megacolon", "megacolon" ], "HP:0004391": [ "aganglionic megacolon", "congenital megacolon", "enlarge colon lack nerve cell", "enlarged colon lacking nerve cells", "hirschsprung disease", "hirschsprung megacolon", "megacolon" ], "HP:0002253": [ "colonic diverticulum", "colonic diverticula", "colon diverticulum", "colon diverticula", "colonic diverticulosis" ], "HP:0005860": [ "colonic diverticulum", "colonic diverticula", "colon diverticulum", "colon diverticula", "colonic diverticulosis" ], "HP:0002254": [ "intermittent diarrhea", "episodic diarrhea", "episodic diarrhoea", "intermittent diarrhoea" ], "HP:0002256": [ "small bowel diverticulum", "small bowel diverticula" ], "HP:0002257": [ "chronic rhinitis" ], "HP:0002263": [ "exaggerated cupid 's bow", "cupid bow upper lip", "cupid 's bow , accentuate", "cupid 's bow , accentuated", "cupid - bow shape upper lip", "cupid - bow shaped upper lip", "prominent cupid - bow of upper lip" ], "HP:0002265": [ "large fleshy ear", "large fleshy ears" ], "HP:0002266": [ "focal clonic seizure", "focal clonic seizures", "localise clonic seizure", "localised clonic seizure", "localize clonic seizure", "localized clonic seizure", "partial clonic seizure", "segmental clonic seizure" ], "HP:0002267": [ "exaggerated startle response", "exaggerated acoustic startle response", "hyperekplexia", "increase startle response", "increased startle response" ], "HP:0002268": [ "paroxysmal dystonia", "episodic dystonia" ], "HP:0002412": [ "paroxysmal dystonia", "episodic dystonia" ], "HP:0002269": [ "abnormality of neuronal migration", "abnormal neuronal migration", "heterotopias / abnormal migration", "migrational brain disorder", "neuronal migration disorder" ], "HP:0007317": [ "abnormality of neuronal migration", "abnormal neuronal migration", "heterotopias / abnormal migration", "migrational brain disorder", "neuronal migration disorder" ], "HP:0002270": [ "abnormality of the autonomic nervous system" ], "HP:0002271": [ "obsolete autonomic dysregulation", "abnormal autonomic nervous system physiology", "autonomic dysfunction", "autonomic dysregulation", "dysautonomia" ], "HP:0002273": [ "tetraparesis", "quadriparesis" ], "HP:0002338": [ "tetraparesis", "quadriparesis" ], "HP:0002275": [ "poor motor coordination" ], "HP:0002277": [ "horner syndrome", "horner 's syndrome", "oculosympathetic palsy" ], "HP:0000596": [ "horner syndrome", "horner 's syndrome", "oculosympathetic palsy" ], "HP:0002280": [ "enlarge cisterna magna", "enlarged cisterna magna", "large cisterna magna", "mega cisterna magna" ], "HP:0002281": [ "obsolete gray matter heterotopias", "gray matter heterotopia", "gray matter heterotopias", "grey matter heterotopia", "grey matter heterotopias", "heterotopia", "heterotopias", "neuronal heterotopia" ], "HP:0002282": [ "obsolete gray matter heterotopias", "gray matter heterotopia", "gray matter heterotopias", "grey matter heterotopia", "grey matter heterotopias", "heterotopia", "heterotopias", "neuronal heterotopia", "obsolete white matter neuronal heterotopia" ], "HP:0007314": [ "obsolete gray matter heterotopias", "gray matter heterotopia", "gray matter heterotopias", "grey matter heterotopia", "grey matter heterotopias", "heterotopia", "heterotopias", "neuronal heterotopia", "obsolete white matter neuronal heterotopia" ], "HP:0002283": [ "global brain atrophy", "diffuse brain atrophy", "generalise brain atrophy", "generalised brain atrophy", "generalise brain degeneration", "generalised brain degeneration", "generalised cerebral atrophy", "generalize brain atrophy", "generalized brain atrophy", "generalize brain degeneration", "generalized brain degeneration", "generalize cerebral atrophy", "generalized cerebral atrophy" ], "HP:0002369": [ "global brain atrophy", "diffuse brain atrophy", "generalise brain atrophy", "generalised brain atrophy", "generalise brain degeneration", "generalised brain degeneration", "generalised cerebral atrophy", "generalize brain atrophy", "generalized brain atrophy", "generalize brain degeneration", "generalized brain degeneration", "generalize cerebral atrophy", "generalized cerebral atrophy" ], "HP:0002462": [ "global brain atrophy", "diffuse brain atrophy", "generalise brain atrophy", "generalised brain atrophy", "generalise brain degeneration", "generalised brain degeneration", "generalised cerebral atrophy", "generalize brain atrophy", "generalized brain atrophy", "generalize brain degeneration", "generalized brain degeneration", "generalize cerebral atrophy", "generalized cerebral atrophy" ], "HP:0002286": [ "fair hair", "blond hair", "fair hair color", "fair hair colour", "flaxen hair color", "flaxen hair colour", "light color hair", "light colored hair", "light colour hair", "light coloured hair", "sandy hair color", "sandy hair colour", "straw color hair", "straw colored hair", "straw colour hair", "straw coloured hair", "towhead ( hair color )" ], "HP:0002214": [ "fair hair", "blond hair", "fair hair color", "fair hair colour", "flaxen hair color", "flaxen hair colour", "light color hair", "light colored hair", "light colour hair", "light coloured hair", "sandy hair color", "sandy hair colour", "straw color hair", "straw colored hair", "straw colour hair", "straw coloured hair", "towhead ( hair color )" ], "HP:0002294": [ "fair hair", "blond hair", "fair hair color", "fair hair colour", "flaxen hair color", "flaxen hair colour", "light color hair", "light colored hair", "light colour hair", "light coloured hair", "sandy hair color", "sandy hair colour", "straw color hair", "straw colored hair", "straw colour hair", "straw coloured hair", "towhead ( hair color )" ], "HP:0002287": [ "progressive alopecia" ], "HP:0002289": [ "alopecia universalis", "alopecia , complete", "universal alopecia" ], "HP:0004550": [ "alopecia universalis", "alopecia , complete", "universal alopecia" ], "HP:0002290": [ "poliosis", "patch of white hair", "white patch" ], "HP:0002292": [ "frontal balding", "male pattern baldness" ], "HP:0002293": [ "alopecia of scalp", "absence of scalp hair", "baldness", "miss scalp hair", "missing scalp hair", "pathologic hair loss from scalp", "scalp hair loss" ], "HP:0200115": [ "alopecia of scalp", "absence of scalp hair", "baldness", "miss scalp hair", "missing scalp hair", "pathologic hair loss from scalp", "scalp hair loss" ], "HP:0002296": [ "progressive hypotrichosis" ], "HP:0002297": [ "red hair", "ginger hair color", "ginger hair colour", "red hair color", "red hair colour", "red head ( hair color )" ], "HP:0002298": [ "absent hair" ], "HP:0004548": [ "absent hair" ], "HP:0002299": [ "brittle hair", "easily breakable hair", "fracture hair", "fractured hair", "fragile hair", "reduce tensile strength of hair", "reduced tensile strength of hair" ], "HP:0002300": [ "mutism", "inability to speak", "muteness" ], "HP:0002301": [ "hemiplegia", "paralysis on one side of body" ], "HP:0002304": [ "akinesia" ], "HP:0002305": [ "athetosis", "athetoid movement", "athetoid movements", "involuntary writhing movement", "involuntary writhing movements", "involuntary writhe movement in finger , hand , toe , and foot", "involuntary writhing movements in fingers , hands , toes , and feet", "obsolete involuntary writhing movement", "obsolete involuntary writhing movements" ], "HP:0007167": [ "athetosis", "athetoid movement", "athetoid movements", "involuntary writhing movement", "involuntary writhing movements", "involuntary writhe movement in finger , hand , toe , and foot", "involuntary writhing movements in fingers , hands , toes , and feet", "obsolete involuntary writhing movement", "obsolete involuntary writhing movements" ], "HP:0007316": [ "athetosis", "athetoid movement", "athetoid movements", "involuntary writhing movement", "involuntary writhing movements", "involuntary writhe movement in finger , hand , toe , and foot", "involuntary writhing movements in fingers , hands , toes , and feet", "obsolete involuntary writhing movement", "obsolete involuntary writhing movements" ], "HP:0002307": [ "drool", "drooling", "dribble", "dribbling", "sialorrhea" ], "HP:0002308": [ "arnold - chiari malformation", "chiari malformation" ], "HP:0002310": [ "orofacial dyskinesia", "orofacial dyskinesias" ], "HP:0002311": [ "incoordination", "difficulty in coordination", "difficulties in coordination", "incoordination of limb movement", "incoordination of limb movements", "limb incoordination" ], "HP:0002276": [ "incoordination", "difficulty in coordination", "difficulties in coordination", "incoordination of limb movement", "incoordination of limb movements", "limb incoordination" ], "HP:0002312": [ "clumsiness" ], "HP:0002313": [ "spastic paraparesis" ], "HP:0007191": [ "spastic paraparesis" ], "HP:0002314": [ "degeneration of the lateral corticospinal tract", "degeneration of the lateral corticospinal tracts", "degeneration of lateral corticospinal tract", "degeneration of lateral corticospinal tracts" ], "HP:0007254": [ "degeneration of the lateral corticospinal tract", "degeneration of the lateral corticospinal tracts", "degeneration of lateral corticospinal tract", "degeneration of lateral corticospinal tracts" ], "HP:0002315": [ "headache", "headaches" ], "HP:0000266": [ "headache", "headaches" ], "HP:0001354": [ "headache", "headaches" ], "HP:0002317": [ "unsteady gait", "gait instability", "unsteady walk" ], "HP:0002318": [ "cervical myelopathy" ], "HP:0002321": [ "vertigo", "dizziness", "dizzy spell" ], "HP:0002322": [ "rest tremor", "resting tremor", "parkinsonian tremor", "tremor at rest" ], "HP:0002323": [ "anencephaly", "embryonic anencephaly", "fetal anencephaly", "foetal anencephaly" ], "HP:0002324": [ "hydranencephaly", "hydrancephaly" ], "HP:0002326": [ "transient ischemic attack", "mini stroke", "transient ischaemic attack", "transient ischaemic attacks", "transient ischemic attacks" ], "HP:0002329": [ "drowsiness", "sleepy" ], "HP:0002330": [ "paroxysmal drowsiness" ], "HP:0002331": [ "recurrent paroxysmal headache" ], "HP:0002332": [ "lack of peer relationship", "lack of peer relationships" ], "HP:0002333": [ "motor deterioration", "progressive degeneration of movement" ], "HP:0002334": [ "abnormal cerebellar vermis morphology", "abnormality of the cerebellar vermis" ], "HP:0002335": [ "agenesis of cerebellar vermis", "cerebellar vermis aplasia", "vermian agenesis" ], "HP:0007125": [ "agenesis of cerebellar vermis", "cerebellar vermis aplasia", "vermian agenesis" ], "HP:0002339": [ "abnormal caudate nucleus morphology", "abnormality of the caudate nucleus" ], "HP:0002340": [ "caudate atrophy", "caudate degeneration" ], "HP:0002341": [ "cervical cord compression", "cervical cord compression myelopathy" ], "HP:0007145": [ "cervical cord compression", "cervical cord compression myelopathy" ], "HP:0002342": [ "intellectual disability , moderate", "iq between 34 and 49", "mental retardation , moderate", "moderate mental deficiency", "moderate mental retardation" ], "HP:0007303": [ "intellectual disability , moderate", "iq between 34 and 49", "mental retardation , moderate", "moderate mental deficiency", "moderate mental retardation" ], "HP:0002343": [ "normal pressure hydrocephalus", "normal - pressure hydrocephalus" ], "HP:0002344": [ "progressive neurologic deterioration", "neurologic deterioration", "neurologic deterioration , progressive", "progressive mental deterioration", "progressive neurodegeneration", "worsen neurological symptom", "worsening neurological symptoms" ], "HP:0002345": [ "action tremor", "ataxic tremor" ], "HP:0002346": [ "head tremor" ], "HP:0002349": [ "focal aware seizure", "focal aware seizures", "focal seizure with retained awareness", "focal seizure without impairment of awareness", "focal seizure without impairment of consciousness or awareness", "focal seizures without impairment of consciousness or awareness", "partial seizure with retained awareness", "partial seizure without impairment of awareness", "simple partial seizure", "simple partial seizures" ], "HP:0002350": [ "cerebellar cyst", "cerebellar cysts" ], "HP:0002352": [ "leukoencephalopathy" ], "HP:0006838": [ "leukoencephalopathy" ], "HP:0007073": [ "leukoencephalopathy" ], "HP:0002353": [ "eeg abnormality", "abnormal eeg", "abnormal electroencephalogram", "eeg abnormalities", "electroencephalogram abnormal", "electroencephalogram abnormality", "electroencephalogram abnormalities" ], "HP:0001346": [ "eeg abnormality", "abnormal eeg", "abnormal electroencephalogram", "eeg abnormalities", "electroencephalogram abnormal", "electroencephalogram abnormality", "electroencephalogram abnormalities" ], "HP:0002429": [ "eeg abnormality", "abnormal eeg", "abnormal electroencephalogram", "eeg abnormalities", "electroencephalogram abnormal", "electroencephalogram abnormality", "electroencephalogram abnormalities" ], "HP:0006841": [ "eeg abnormality", "abnormal eeg", "abnormal electroencephalogram", "eeg abnormalities", "electroencephalogram abnormal", "electroencephalogram abnormality", "electroencephalogram abnormalities" ], "HP:0002354": [ "memory impairment", "forgetfulness", "memory loss", "memory problem", "memory problems", "poor memory" ], "HP:0000747": [ "memory impairment", "forgetfulness", "memory loss", "memory problem", "memory problems", "poor memory" ], "HP:0002081": [ "memory impairment", "forgetfulness", "memory loss", "memory problem", "memory problems", "poor memory" ], "HP:0002355": [ "difficulty walk", "difficulty walking", "difficulty in walk", "difficulty in walking", "walk disability", "walking disability" ], "HP:0007101": [ "difficulty walk", "difficulty walking", "difficulty in walk", "difficulty in walking", "walk disability", "walking disability" ], "HP:0009030": [ "difficulty walk", "difficulty walking", "difficulty in walk", "difficulty in walking", "walk disability", "walking disability" ], "HP:0002356": [ "writer 's cramp" ], "HP:0002357": [ "dysphasia" ], "HP:0002359": [ "frequent fall", "frequent falls" ], "HP:0002360": [ "sleep disturbance", "difficulty sleep", "difficulty sleeping", "sleep disturbances", "sleep dysfunction", "trouble sleep", "trouble sleeping" ], "HP:0002361": [ "psychomotor deterioration", "psychomotor degeneration" ], "HP:0002362": [ "shuffle gait", "shuffling gait", "shuffle walk", "shuffled walk" ], "HP:0002363": [ "abnormal brainstem morphology", "abnormal shape of brainstem", "abnormality of brainstem morphology", "abnormality of the brainstem" ], "HP:0002365": [ "hypoplasia of the brainstem", "brainstem hypoplasia", "hypoplastic brain stem", "hypoplastic brainstem", "small brainstem", "underdeveloped brainstem" ], "HP:0002366": [ "abnormal low motor neuron morphology", "abnormal lower motor neuron morphology", "low motor neuron disease", "lower motor neuron disease", "low motor neuron manifestation", "lower motor neuron manifestations", "low motor neuron sign", "lower motor neuron signs" ], "HP:0007276": [ "abnormal low motor neuron morphology", "abnormal lower motor neuron morphology", "low motor neuron disease", "lower motor neuron disease", "low motor neuron manifestation", "lower motor neuron manifestations", "low motor neuron sign", "lower motor neuron signs" ], "HP:0002367": [ "visual hallucination", "visual hallucinations" ], "HP:0002370": [ "poor coordination" ], "HP:0002371": [ "loss of speech" ], "HP:0002372": [ "normal interictal eeg" ], "HP:0002373": [ "febrile seizure ( within the age range of 3 month to 6 year )", "febrile seizure ( within the age range of 3 months to 6 years )", "febrile convulsion", "febrile seizure", "febrile seizures", "fever induced seizure", "fever induced seizures", "seizure , febrile , in early childhood", "seizures , febrile , in early childhood", "seizure , generalize , associate with fever", "seizures , generalized , associated with fever" ], "HP:0002175": [ "febrile seizure ( within the age range of 3 month to 6 year )", "febrile seizure ( within the age range of 3 months to 6 years )", "febrile convulsion", "febrile seizure", "febrile seizures", "fever induced seizure", "fever induced seizures", "seizure , febrile , in early childhood", "seizures , febrile , in early childhood", "seizure , generalize , associate with fever", "seizures , generalized , associated with fever" ], "HP:0007102": [ "febrile seizure ( within the age range of 3 month to 6 year )", "febrile seizure ( within the age range of 3 months to 6 years )", "febrile convulsion", "febrile seizure", "febrile seizures", "fever induced seizure", "fever induced seizures", "seizure , febrile , in early childhood", "seizures , febrile , in early childhood", "seizure , generalize , associate with fever", "seizures , generalized , associated with fever" ], "HP:0002374": [ "diminish movement", "diminished movement" ], "HP:0002375": [ "hypokinesia", "decreased muscle movement", "decrease spontaneous movement", "decreased spontaneous movement", "decreased spontaneous movements" ], "HP:0002603": [ "hypokinesia", "decreased muscle movement", "decrease spontaneous movement", "decreased spontaneous movement", "decreased spontaneous movements" ], "HP:0006795": [ "hypokinesia", "decreased muscle movement", "decrease spontaneous movement", "decreased spontaneous movement", "decreased spontaneous movements" ], "HP:0002376": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0002471": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0002489": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0006797": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0006828": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0006854": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0007037": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0007242": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0007247": [ "developmental regression", "loss of developmental milestone", "loss of developmental milestones", "mental deterioration in childhood", "neurodevelopmental regression", "psychomotor regression", "psychomotor regression begin in infancy", "psychomotor regression beginning in infancy", "psychomotor regression in infant", "psychomotor regression in infants", "psychomotor regression , progressive" ], "HP:0002377": [ "obsolete paraganglioma - relate cranial nerve palsy", "obsolete paraganglioma - related cranial nerve palsy", "cranial nerve paralysis", "cranial nerve palsy", "cranial nerve palsies", "cranial nerve paresis" ], "HP:0002378": [ "hand tremor", "tremor of hand", "tremor of hands", "tremor in hand", "tremors in hands" ], "HP:0002380": [ "fasciculation", "fasciculations", "muscle fasciculation", "muscle twitch" ], "HP:0002468": [ "fasciculation", "fasciculations", "muscle fasciculation", "muscle twitch" ], "HP:0007092": [ "fasciculation", "fasciculations", "muscle fasciculation", "muscle twitch" ], "HP:0002381": [ "aphasia", "difficulty find word", "difficulty finding words", "losing word", "losing words", "loss of word", "loss of words" ], "HP:0002383": [ "infectious encephalitis", "brain inflammation" ], "HP:0002384": [ "focal impair awareness seizure", "focal impaired awareness seizure", "complex focal seizure", "complex focal seizures", "complex partial seizure", "complex partial seizures", "dyscognitive seizure", "dyscognitive seizures", "focal dyscognitive seizure", "focal impaired awareness seizures", "focal seizure with impairment of awareness", "focal seizure with loss of awareness", "focal seizure with impairment of consciousness or awareness", "focal seizures with impairment of consciousness or awareness", "localise dyscognitive seizure", "localised dyscognitive seizure", "localised seizure with impaired awareness", "localised seizure with loss of awareness", "localize dyscognitive seizure", "localized dyscognitive seizure", "localized seizure with impaired awareness", "localized seizure with loss of awareness", "partial dyscognitive seizure", "partial seizure with impairment of awareness", "partial seizure with loss of awareness" ], "HP:0002278": [ "focal impair awareness seizure", "focal impaired awareness seizure", "complex focal seizure", "complex focal seizures", "complex partial seizure", "complex partial seizures", "dyscognitive seizure", "dyscognitive seizures", "focal dyscognitive seizure", "focal impaired awareness seizures", "focal seizure with impairment of awareness", "focal seizure with loss of awareness", "focal seizure with impairment of consciousness or awareness", "focal seizures with impairment of consciousness or awareness", "localise dyscognitive seizure", "localised dyscognitive seizure", "localised seizure with impaired awareness", "localised seizure with loss of awareness", "localize dyscognitive seizure", "localized dyscognitive seizure", "localized seizure with impaired awareness", "localized seizure with loss of awareness", "partial dyscognitive seizure", "partial seizure with impairment of awareness", "partial seizure with loss of awareness" ], "HP:0002385": [ "paraparesis", "partial paralysis of leg", "partial paralysis of legs" ], "HP:0002389": [ "cavum septum pellucidum", "large cavum septi pellucidi", "persistent cavum septum pellucidum", "widen cavum septum pellucidum", "widened cavum septum pellucidum" ], "HP:0006884": [ "cavum septum pellucidum", "large cavum septi pellucidi", "persistent cavum septum pellucidum", "widen cavum septum pellucidum", "widened cavum septum pellucidum" ], "HP:0007091": [ "cavum septum pellucidum", "large cavum septi pellucidi", "persistent cavum septum pellucidum", "widen cavum septum pellucidum", "widened cavum septum pellucidum" ], "HP:0007336": [ "cavum septum pellucidum", "large cavum septi pellucidi", "persistent cavum septum pellucidum", "widen cavum septum pellucidum", "widened cavum septum pellucidum" ], "HP:0002390": [ "spinal arteriovenous malformation" ], "HP:0002392": [ "eeg with polyspike wave complex", "eeg with polyspike wave complexes", "eeg : spike and multispike wave , 3 - 4 hz", "eeg : spike and multispike waves , 3 - 4 hz" ], "HP:0002395": [ "low limb hyperreflexia", "lower limb hyperreflexia", "brisk low extremity reflex", "brisk lower extremity reflexes", "hyperreflexia in low limb", "hyperreflexia in lower limbs", "hyperreflexia in the low limb", "hyperreflexia in the lower limbs", "increase deep tendon reflex in the low limb", "increased deep tendon reflexes in the lower limbs", "leg hyperreflexia", "overactive low leg reflex", "overactive lower leg reflex" ], "HP:0007245": [ "low limb hyperreflexia", "lower limb hyperreflexia", "brisk low extremity reflex", "brisk lower extremity reflexes", "hyperreflexia in low limb", "hyperreflexia in lower limbs", "hyperreflexia in the low limb", "hyperreflexia in the lower limbs", "increase deep tendon reflex in the low limb", "increased deep tendon reflexes in the lower limbs", "leg hyperreflexia", "overactive low leg reflex", "overactive lower leg reflex" ], "HP:0007288": [ "low limb hyperreflexia", "lower limb hyperreflexia", "brisk low extremity reflex", "brisk lower extremity reflexes", "hyperreflexia in low limb", "hyperreflexia in lower limbs", "hyperreflexia in the low limb", "hyperreflexia in the lower limbs", "increase deep tendon reflex in the low limb", "increased deep tendon reflexes in the lower limbs", "leg hyperreflexia", "overactive low leg reflex", "overactive lower leg reflex" ], "HP:0002396": [ "cogwheel rigidity" ], "HP:0002398": [ "degeneration of anterior horn cell", "degeneration of anterior horn cells", "anterior horn cell loss", "degeneration of alpha - motor neuron in anterior horn cell of the spinal cord", "degeneration of alpha - motor neurons in anterior horn cells of the spinal cord", "degeneration of spinal cord anterior horn cell", "degeneration of spinal cord anterior horn cells", "loss of spinal cord anterior horn cell", "loss of spinal cord anterior horn cells", "progressive loss of anterior horn cell", "progressive loss of anterior horn cells", "spinal cord anterior horn cell degeneration" ], "HP:0007136": [ "degeneration of anterior horn cell", "degeneration of anterior horn cells", "anterior horn cell loss", "degeneration of alpha - motor neuron in anterior horn cell of the spinal cord", "degeneration of alpha - motor neurons in anterior horn cells of the spinal cord", "degeneration of spinal cord anterior horn cell", "degeneration of spinal cord anterior horn cells", "loss of spinal cord anterior horn cell", "loss of spinal cord anterior horn cells", "progressive loss of anterior horn cell", "progressive loss of anterior horn cells", "spinal cord anterior horn cell degeneration" ], "HP:0008312": [ "degeneration of anterior horn cell", "degeneration of anterior horn cells", "anterior horn cell loss", "degeneration of alpha - motor neuron in anterior horn cell of the spinal cord", "degeneration of alpha - motor neurons in anterior horn cells of the spinal cord", "degeneration of spinal cord anterior horn cell", "degeneration of spinal cord anterior horn cells", "loss of spinal cord anterior horn cell", "loss of spinal cord anterior horn cells", "progressive loss of anterior horn cell", "progressive loss of anterior horn cells", "spinal cord anterior horn cell degeneration" ], "HP:0002401": [ "stroke - like episode", "stroke - like episodes", "strokelike episode", "strokelike episodes" ], "HP:0002403": [ "positive romberg sign" ], "HP:0002404": [ "thicken superior cerebellar peduncle", "thickened superior cerebellar peduncle", "thick cerebellar peduncle", "thick cerebellar peduncles" ], "HP:0002406": [ "limb dysmetria", "uncoordinated limb movement" ], "HP:0002408": [ "cerebral arteriovenous malformation", "cerebral av malformation" ], "HP:0002410": [ "aqueductal stenosis", "aqueduct of sylvius stenosis", "aqueduct stenosis", "narrowing of aqueduct of sylvius" ], "HP:0002411": [ "myokymia" ], "HP:0002414": [ "spina bifida", "split spine" ], "HP:0002415": [ "leukodystrophy", "degeneration of white matter of brain" ], "HP:0002416": [ "subependymal cyst", "subependymal cysts" ], "HP:0002418": [ "abnormal midbrain morphology", "abnormal shape of midbrain", "abnormality of midbrain morphology", "abnormality of the mesencephalon", "abnormality of the midbrain" ], "HP:0002419": [ "molar tooth sign on mri", "'molar tooth sign ' on brain imaging '", "'molar tooth ' sign on image", "'molar tooth ' sign on imaging", "molar tooth sign" ], "HP:0002421": [ "poor head control" ], "HP:0002423": [ "long - tract sign", "long - tract signs", "long tract sign", "long tract signs" ], "HP:0002425": [ "anarthria", "loss of articulate speech" ], "HP:0002427": [ "expressive aphasia", "broca 's aphasia", "loss of expressive speech", "motor aphasia", "non - fluent aphasia" ], "HP:0002435": [ "meningocele" ], "HP:0002436": [ "occipital meningocele" ], "HP:0002438": [ "cerebellar malformation" ], "HP:0002439": [ "frontolimbic dementia" ], "HP:0002442": [ "dyscalculia", "difficulty make arithmetical calculation", "difficulty making arithmetical calculations" ], "HP:0002444": [ "hypothalamic hamartoma" ], "HP:0002445": [ "tetraplegia", "paralysis of all four limb", "paralysis of all four limbs", "quadriplegia" ], "HP:0010552": [ "tetraplegia", "paralysis of all four limb", "paralysis of all four limbs", "quadriplegia" ], "HP:0002446": [ "astrocytosis", "increase in astrocyte number" ], "HP:0002448": [ "progressive encephalopathy", "progressive brain disease" ], "HP:0002450": [ "abnormal motor neuron morphology", "abnormal shape of motor neuron" ], "HP:0002451": [ "limb dystonia" ], "HP:0002453": [ "abnormal globus pallidus morphology" ], "HP:0007040": [ "abnormal globus pallidus morphology" ], "HP:0002454": [ "eye of the tiger anomaly of globus pallidus" ], "HP:0002457": [ "abnormal head movement", "abnormal head movements" ], "HP:0002459": [ "obsolete dysautonomia", "obsolete autonomic dysregulation", "abnormal autonomic nervous system physiology", "autonomic dysfunction", "autonomic dysregulation", "dysautonomia" ], "HP:0002460": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0002598": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0002935": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0003497": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0006940": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0009008": [ "distal muscle weakness", "distal limb muscle weakness", "distal limb muscle weakness due to peripheral neuropathy", "distal limb weakness", "distal muscular weakness", "distal paresis", "muscle weakness , distal", "muscle weakness , distal limb , due to neuronopathy", "muscle weakness , distal limbs , due to neuronopathy", "weakness of distal muscle", "weakness of distal muscles", "weakness of outermost muscle", "weakness of outermost muscles" ], "HP:0002461": [ "dense calcification in the cerebellar dentate nucleus", "dense calcifications in the cerebellar dentate nucleus" ], "HP:0002463": [ "language impairment", "language disorder" ], "HP:0002464": [ "spastic dysarthria", "rigid dysarthria" ], "HP:0002465": [ "poor speech", "difficulty speaking", "problem speak", "problems speaking" ], "HP:0002470": [ "nonprogressive cerebellar ataxia" ], "HP:0002472": [ "small cerebral cortex", "decreased volume of cerebral cortex" ], "HP:0006791": [ "small cerebral cortex", "decreased volume of cerebral cortex" ], "HP:0007151": [ "small cerebral cortex", "decreased volume of cerebral cortex" ], "HP:0002474": [ "expressive language delay", "communication delay", "deficit in expressive language" ], "HP:0007192": [ "expressive language delay", "communication delay", "deficit in expressive language" ], "HP:0002475": [ "myelomeningocele", "meningomyelocele", "spina bifida cystica" ], "HP:0002476": [ "primitive reflex", "archaic reflex", "primitive reflexes" ], "HP:0002478": [ "progressive spastic quadriplegia", "progressive spastic quadriparesis" ], "HP:0002480": [ "hepatic encephalopathy" ], "HP:0002483": [ "bulbar sign", "bulbar signs" ], "HP:0002486": [ "myotonia", "delay relaxation of muscle fiber after contraction", "delayed relaxation of muscle fibers after contraction", "delay relaxation of muscle fibre after contraction", "delayed relaxation of muscle fibres after contraction" ], "HP:0003632": [ "myotonia", "delay relaxation of muscle fiber after contraction", "delayed relaxation of muscle fibers after contraction", "delay relaxation of muscle fibre after contraction", "delayed relaxation of muscle fibres after contraction" ], "HP:0003754": [ "myotonia", "delay relaxation of muscle fiber after contraction", "delayed relaxation of muscle fibers after contraction", "delay relaxation of muscle fibre after contraction", "delayed relaxation of muscle fibres after contraction" ], "HP:0003792": [ "myotonia", "delay relaxation of muscle fiber after contraction", "delayed relaxation of muscle fibers after contraction", "delay relaxation of muscle fibre after contraction", "delayed relaxation of muscle fibres after contraction" ], "HP:0002487": [ "hyperkinetic movement", "hyperkinetic movements", "hyperkinesia", "hyperkinesis", "muscle spasm", "muscle spasms" ], "HP:0002488": [ "acute leukemia", "acute blood cancer", "acute leukaemia", "acute leukemias" ], "HP:0002490": [ "increase csf lactate", "increased csf lactate", "hyperlactatorachia", "increase cerebrospinal fluid lactate", "increased cerebrospinal fluid lactate", "increase csf lactic acid", "increased csf lactic acid" ], "HP:0002491": [ "spasticity of facial muscle", "spasticity of facial muscles", "increased stiffness of facial muscle", "increased stiffness of facial muscles", "increase tone of facial muscle", "increased tone of facial muscles", "spasticity of the facial muscle", "spasticity of the facial muscles" ], "HP:0000313": [ "spasticity of facial muscle", "spasticity of facial muscles", "increased stiffness of facial muscle", "increased stiffness of facial muscles", "increase tone of facial muscle", "increased tone of facial muscles", "spasticity of the facial muscle", "spasticity of the facial muscles" ], "HP:0002492": [ "morphological abnormality of the corticospinal tract", "abnormality of the corticospinal tract", "involvement of the corticospinal pathway", "involvement of the corticospinal pathways" ], "HP:0006912": [ "morphological abnormality of the corticospinal tract", "abnormality of the corticospinal tract", "involvement of the corticospinal pathway", "involvement of the corticospinal pathways" ], "HP:0002493": [ "upper motor neuron dysfunction", "corticospinal tract dysfunction", "pyramidal tract dysfunction" ], "HP:0002494": [ "abnormal rapid eye movement sleep", "abnormal rem sleep" ], "HP:0002495": [ "impaired vibratory sensation", "decrease vibration sense", "decreased vibration sense", "decreased vibratory sense", "diminished vibratory sense", "hypopallesthesia", "impaired vibratory sense" ], "HP:0006836": [ "impaired vibratory sensation", "decrease vibration sense", "decreased vibration sense", "decreased vibratory sense", "diminished vibratory sense", "hypopallesthesia", "impaired vibratory sense" ], "HP:0007116": [ "impaired vibratory sensation", "decrease vibration sense", "decreased vibration sense", "decreased vibratory sense", "diminished vibratory sense", "hypopallesthesia", "impaired vibratory sense" ], "HP:0002497": [ "spastic ataxia" ], "HP:0002500": [ "abnormal cerebral white matter morphology", "abnormality of subcortical white matter", "abnormality of the cerebral white matter", "cerebral white matter abnormality", "cerebral white matter abnormalities", "cortical white matter abnormality see on mri", "cortical white matter abnormalities seen on mri", "leukoaraiosis", "white matter abnormality", "white matter abnormalities", "white matter alteration", "white matter alterations" ], "HP:0200100": [ "abnormal cerebral white matter morphology", "abnormality of subcortical white matter", "abnormality of the cerebral white matter", "cerebral white matter abnormality", "cerebral white matter abnormalities", "cortical white matter abnormality see on mri", "cortical white matter abnormalities seen on mri", "leukoaraiosis", "white matter abnormality", "white matter abnormalities", "white matter alteration", "white matter alterations" ], "HP:0002501": [ "spasticity of pharyngeal muscle", "spasticity of pharyngeal muscles" ], "HP:0002503": [ "spinocerebellar tract degeneration", "degeneration of the spinocerebellar tract", "degeneration of the spinocerebellar tracts", "spinocerebellar degeneration" ], "HP:0002504": [ "calcification of the small brain vessel", "calcification of the small brain vessels" ], "HP:0002505": [ "progressive inability to walk" ], "HP:0002506": [ "diffuse cerebral atrophy", "cerebral atrophy , diffuse" ], "HP:0006954": [ "diffuse cerebral atrophy", "cerebral atrophy , diffuse" ], "HP:0002507": [ "semilobar holoprosencephaly" ], "HP:0002508": [ "brainstem dysplasia", "brainstem hypoplasia / dysplasia", "malformation of brainstem structure", "malformation of brainstem structures" ], "HP:0006991": [ "brainstem dysplasia", "brainstem hypoplasia / dysplasia", "malformation of brainstem structure", "malformation of brainstem structures" ], "HP:0002509": [ "limb hypertonia", "increased muscle tone of arm or leg" ], "HP:0002510": [ "spastic tetraplegia", "spastic quadriplegia" ], "HP:0001280": [ "spastic tetraplegia", "spastic quadriplegia" ], "HP:0002511": [ "alzheimer disease", "late - onset form of familial alzheimer disease" ], "HP:0006878": [ "alzheimer disease", "late - onset form of familial alzheimer disease" ], "HP:0007213": [ "alzheimer disease", "late - onset form of familial alzheimer disease" ], "HP:0002512": [ "brain stem compression" ], "HP:0002514": [ "cerebral calcification", "abnormal deposit of calcium in the brain", "abnormal deposits of calcium in the brain", "brain calcification", "intracerebral calcification", "intracerebral calcifications", "intracranial calcification", "intracranial calcifications" ], "HP:0002502": [ "cerebral calcification", "abnormal deposit of calcium in the brain", "abnormal deposits of calcium in the brain", "brain calcification", "intracerebral calcification", "intracerebral calcifications", "intracranial calcification", "intracranial calcifications" ], "HP:0005806": [ "cerebral calcification", "abnormal deposit of calcium in the brain", "abnormal deposits of calcium in the brain", "brain calcification", "intracerebral calcification", "intracerebral calcifications", "intracranial calcification", "intracranial calcifications" ], "HP:0006848": [ "cerebral calcification", "abnormal deposit of calcium in the brain", "abnormal deposits of calcium in the brain", "brain calcification", "intracerebral calcification", "intracerebral calcifications", "intracranial calcification", "intracranial calcifications" ], "HP:0002515": [ "waddle gait", "waddling gait", "'waddling ' gait", "waddle walk", "waddling walk" ], "HP:0002516": [ "increase intracranial pressure", "increased intracranial pressure", "intracranial hypertension", "intracranial pressure elevation", "rise in pressure inside skull" ], "HP:0002518": [ "abnormal periventricular white matter morphology", "abnormality of the periventricular white matter", "periventricular white matter abnormality", "periventricular white matter abnormalities" ], "HP:0002519": [ "hypnagogic hallucination", "hypnagogic hallucinations" ], "HP:0002521": [ "hypsarrhythmia", "hypsarrhythmia by eeg" ], "HP:0002522": [ "areflexia of low limb", "areflexia of lower limbs", "absent low limb tendon reflex", "absent lower limb tendon reflexes", "areflexia in low limb", "areflexia in lower limbs", "areflexia of the low limb", "areflexia of the lower limbs", "areflexia , low limb", "areflexia , lower limbs" ], "HP:0002524": [ "cataplexy" ], "HP:0002428": [ "cataplexy" ], "HP:0002525": [ "cataplexy" ], "HP:0002526": [ "deficit in nonword repetition" ], "HP:0002527": [ "fall", "falls" ], "HP:0002528": [ "granulovacuolar degeneration" ], "HP:0002529": [ "neuronal loss in central nervous system", "loss of brain cell", "loss of brain cells", "neuronal loss", "neuronal loss in cns" ], "HP:0002400": [ "neuronal loss in central nervous system", "loss of brain cell", "loss of brain cells", "neuronal loss", "neuronal loss in cns" ], "HP:0002530": [ "axial dystonia", "truncal dystonia" ], "HP:0002533": [ "abnormal posturing" ], "HP:0002536": [ "abnormal cortical gyration", "abnormal gyration", "cerebral gyral anomaly", "cerebral gyral anomalies" ], "HP:0006900": [ "abnormal cortical gyration", "abnormal gyration", "cerebral gyral anomaly", "cerebral gyral anomalies" ], "HP:0002538": [ "abnormal cerebral cortex morphology", "abnormality of the cerebral cortex" ], "HP:0002539": [ "cortical dysplasia", "neocortical dysplasia" ], "HP:0007139": [ "cortical dysplasia", "neocortical dysplasia" ], "HP:0002540": [ "inability to walk", "non - ambulatory" ], "HP:0002542": [ "olivopontocerebellar atrophy", "olivopontocerebellar degeneration" ], "HP:0005683": [ "olivopontocerebellar atrophy", "olivopontocerebellar degeneration" ], "HP:0002544": [ "retrocollis" ], "HP:0002545": [ "patchy demyelination of subcortical white matter" ], "HP:0002546": [ "incomprehensible speech" ], "HP:0002548": [ "parkinsonism with favorable response to dopaminergic medication", "favorable response to levodopa", "favourable response to levodopa", "parkinsonism with favourable response to dopaminergic medication" ], "HP:0002549": [ "deficit in phonologic short - term memory", "deficit in non - word repetition", "impaired non - word repetition" ], "HP:0002550": [ "absent facial hair" ], "HP:0002552": [ "trichodysplasia", "generalise trichodysplasia", "generalised trichodysplasia", "generalize trichodysplasia", "generalized trichodysplasia" ], "HP:0004515": [ "trichodysplasia", "generalise trichodysplasia", "generalised trichodysplasia", "generalize trichodysplasia", "generalized trichodysplasia" ], "HP:0002553": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0001584": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0004533": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0007681": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0007804": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0008505": [ "highly arch eyebrow", "highly arched eyebrow", "arch eyebrow", "arched eyebrows", "bow and upward slanting eyebrow", "bowed and upward slanting eyebrows", "broad , arch eyebrow", "broad , arched eyebrows", "high arch eyebrow", "high arched eyebrows", "high , round eyebrow", "high , rounded eyebrows", "high - arch eyebrow", "high - arched eyebrows", "thick , flare eyebrow", "thick , flared eyebrows" ], "HP:0002555": [ "absent pubic hair" ], "HP:0004537": [ "absent pubic hair" ], "HP:0004556": [ "absent pubic hair" ], "HP:0002557": [ "hypoplastic nipple", "hypoplastic nipples", "nipple hypoplasia", "small nipple", "small nipples" ], "HP:0002560": [ "hypoplastic nipple", "hypoplastic nipples", "nipple hypoplasia", "small nipple", "small nipples" ], "HP:0003188": [ "hypoplastic nipple", "hypoplastic nipples", "nipple hypoplasia", "small nipple", "small nipples" ], "HP:0006652": [ "hypoplastic nipple", "hypoplastic nipples", "nipple hypoplasia", "small nipple", "small nipples" ], "HP:0002558": [ "supernumerary nipple", "accessory mamilla", "accessory mamillas", "accessory nipple", "accessory nipples", "increase nipple number", "increased nipple number", "supernumerary nipples" ], "HP:0002559": [ "supernumerary nipple", "accessory mamilla", "accessory mamillas", "accessory nipple", "accessory nipples", "increase nipple number", "increased nipple number", "supernumerary nipples" ], "HP:0002561": [ "absent nipple", "absent nipples", "athelia" ], "HP:0002562": [ "low - set nipple", "low - set nipples" ], "HP:0002563": [ "constrictive pericarditis" ], "HP:0002564": [ "obsolete malformation of the heart and great vessel", "obsolete malformation of the heart and great vessels", "abnormality of cardiovascular system morphology", "cardiovascular malformation", "cardiovascular malformations" ], "HP:0002566": [ "intestinal malrotation", "gut malrotation", "malrotation" ], "HP:0002026": [ "intestinal malrotation", "gut malrotation", "malrotation" ], "HP:0002570": [ "steatorrhea", "fat in faeces", "fat in feces", "fatty stool" ], "HP:0002571": [ "achalasia", "achalasia of the esophagus", "achalasia of the oesophagus" ], "HP:0002572": [ "episodic vomit", "episodic vomiting", "frequent vomit", "frequent vomiting" ], "HP:0002573": [ "hematochezia", "rectal bleeding", "recurrent rectal bleeding" ], "HP:0002255": [ "hematochezia", "rectal bleeding", "recurrent rectal bleeding" ], "HP:0002609": [ "hematochezia", "rectal bleeding", "recurrent rectal bleeding" ], "HP:0002574": [ "episodic abdominal pain", "intermittent abdominal pain" ], "HP:0002575": [ "tracheoesophageal fistula", "abnormal connection between trachea and esophagus", "abnormal connection between trachea and oesophagus" ], "HP:0002576": [ "intussusception" ], "HP:0002577": [ "abnormal stomach morphology", "abnormality of the stomach" ], "HP:0002578": [ "gastroparesis", "delay gastric empty", "delayed gastric emptying" ], "HP:0002579": [ "gastrointestinal dysmotility", "gi dysmotility" ], "HP:0002580": [ "volvulus" ], "HP:0002582": [ "chronic atrophic gastritis" ], "HP:0002583": [ "colitis" ], "HP:0002584": [ "intestinal bleeding", "intestinal haemorrhage", "intestinal hemorrhage" ], "HP:0002585": [ "abnormality of the peritoneum" ], "HP:0002586": [ "peritonitis", "inflammation of the peritoneum" ], "HP:0100591": [ "peritonitis", "inflammation of the peritoneum" ], "HP:0002587": [ "projectile vomit", "projectile vomiting" ], "HP:0002588": [ "duodenal ulcer" ], "HP:0002589": [ "gastrointestinal atresia", "gi atresia" ], "HP:0002590": [ "paralytic ileus" ], "HP:0002591": [ "polyphagia", "hyperphagia", "increase appetite", "increased appetite", "voracious appetite" ], "HP:0000724": [ "polyphagia", "hyperphagia", "increase appetite", "increased appetite", "voracious appetite" ], "HP:0002042": [ "polyphagia", "hyperphagia", "increase appetite", "increased appetite", "voracious appetite" ], "HP:0002592": [ "gastric ulcer", "stomach ulcer" ], "HP:0002593": [ "intestinal lymphangiectasia" ], "HP:0002594": [ "pancreatic hypoplasia", "hypoplastic pancreas", "underdeveloped pancreas" ], "HP:0005221": [ "pancreatic hypoplasia", "hypoplastic pancreas", "underdeveloped pancreas" ], "HP:0002595": [ "ileus", "gastrointestinal atony" ], "HP:0002597": [ "abnormality of the vasculature", "abnormality of blood vessel", "abnormality of blood vessels", "vascular abnormality", "vascular abnormalities" ], "HP:0002599": [ "head titubation" ], "HP:0002600": [ "hyporeflexia of low limb", "hyporeflexia of lower limbs", "hyporeflexia in low limb", "hyporeflexia in lower limbs", "hyporeflexia of the low limb", "hyporeflexia of the lower limbs", "hyporeflexia , low limb", "hyporeflexia , lower limbs", "hyporeflexia / areflexia in low limb", "hyporeflexia / areflexia in lower limbs" ], "HP:0006861": [ "hyporeflexia of low limb", "hyporeflexia of lower limbs", "hyporeflexia in low limb", "hyporeflexia in lower limbs", "hyporeflexia of the low limb", "hyporeflexia of the lower limbs", "hyporeflexia , low limb", "hyporeflexia , lower limbs", "hyporeflexia / areflexia in low limb", "hyporeflexia / areflexia in lower limbs" ], "HP:0002601": [ "paresis of extensor muscle of the big toe", "paresis of extensor muscles of the big toe" ], "HP:0002604": [ "gastrointestinal telangiectasia", "gi telangiectasia", "small , enlarge blood vessel near skin", "small , enlarged blood vessels near skin" ], "HP:0002605": [ "hepatic necrosis" ], "HP:0002607": [ "bowel incontinence", "anal incontinence", "faecal incontinence", "fecal incontinence", "loss of bowel control" ], "HP:0007147": [ "bowel incontinence", "anal incontinence", "faecal incontinence", "fecal incontinence", "loss of bowel control" ], "HP:0002608": [ "celiac disease", "celiac sprue", "coeliac disease", "coeliac sprue" ], "HP:0002611": [ "cholestatic liver disease" ], "HP:0002612": [ "congenital hepatic fibrosis", "congenital liver fibrosis", "excessive buildup of connective tissue and scarring of liver at birth" ], "HP:0002613": [ "biliary cirrhosis", "primary biliary cirrhosis" ], "HP:0002614": [ "hepatic periportal necrosis" ], "HP:0002615": [ "hypotension", "arterial hypotension", "low blood pressure" ], "HP:0005127": [ "hypotension", "arterial hypotension", "low blood pressure" ], "HP:0006701": [ "hypotension", "arterial hypotension", "low blood pressure" ], "HP:0002616": [ "aortic root aneurysm", "aortic root dilatation", "bulge in wall of root of large artery that carry blood away from heart", "bulge in wall of root of large artery that carries blood away from heart", "increase aortic root diameter", "increased aortic root diameter", "obsolete dilatation of ascend aorta", "obsolete dilatation of ascending aorta" ], "HP:0002631": [ "aortic root aneurysm", "aortic root dilatation", "bulge in wall of root of large artery that carry blood away from heart", "bulge in wall of root of large artery that carries blood away from heart", "increase aortic root diameter", "increased aortic root diameter", "obsolete dilatation of ascend aorta", "obsolete dilatation of ascending aorta" ], "HP:0004750": [ "aortic root aneurysm", "aortic root dilatation", "bulge in wall of root of large artery that carry blood away from heart", "bulge in wall of root of large artery that carries blood away from heart", "increase aortic root diameter", "increased aortic root diameter", "obsolete dilatation of ascend aorta", "obsolete dilatation of ascending aorta" ], "HP:0005125": [ "aortic root aneurysm", "aortic root dilatation", "bulge in wall of root of large artery that carry blood away from heart", "bulge in wall of root of large artery that carries blood away from heart", "increase aortic root diameter", "increased aortic root diameter", "obsolete dilatation of ascend aorta", "obsolete dilatation of ascending aorta" ], "HP:0002617": [ "vascular dilatation", "aneurysm", "aneurysmal dilatation", "aneurysmal disease", "aneurysms", "wide than typical opening or gap", "wider than typical opening or gap" ], "HP:0002619": [ "varicose vein", "varicose veins" ], "HP:0002621": [ "atherosclerosis", "atherosclerotic cardiovascular disease", "narrowing and hardening of artery", "narrowing and hardening of arteries", "plaque build - up in artery", "plaque build - up in arteries" ], "HP:0002622": [ "obsolete dissect aortic dilatation", "obsolete dissecting aortic dilatation", "aortic dissection", "tear in inner wall of large artery that carry blood away from heart", "tear in inner wall of large artery that carries blood away from heart" ], "HP:0002623": [ "override aorta", "overriding aorta", "dextroposition of aorta", "override aortic valve", "overriding aortic valve" ], "HP:0002624": [ "abnormal venous morphology", "abnormal vein", "venous abnormality" ], "HP:0002625": [ "deep venous thrombosis", "blood clot in a deep vein", "deep vein thrombosis", "multiple deep venous thrombosis" ], "HP:0002626": [ "venous varicosity of celiac and mesenteric vessel", "venous varicosities of celiac and mesenteric vessels", "venous varicosity of coeliac and mesenteric vessel", "venous varicosities of coeliac and mesenteric vessels" ], "HP:0002627": [ "right aortic arch with mirror image branching" ], "HP:0002629": [ "gastrointestinal arteriovenous malformation", "gi arteriovenous malformation" ], "HP:0002630": [ "fat malabsorption" ], "HP:0002632": [ "low - to - normal blood pressure", "low - to - normal bp" ], "HP:0002633": [ "vasculitis", "angiitis", "inflammation of blood vessel" ], "HP:0002634": [ "arteriosclerosis", "harden artery wall", "hardened artery wall" ], "HP:0002635": [ "type iv atherosclerotic lesion", "atheromatosis" ], "HP:0002636": [ "dilatation of an abdominal artery", "aneurysm of an abdominal artery" ], "HP:0002637": [ "cerebral ischemia", "brain ischemia", "cerebrovascular ischemia", "disruption of blood oxygen supply to brain" ], "HP:0002638": [ "superficial thrombophlebitis" ], "HP:0002639": [ "budd - chiari syndrome" ], "HP:0002640": [ "hypertension associate with pheochromocytoma", "hypertension associated with pheochromocytoma" ], "HP:0002641": [ "peripheral thrombosis", "peripheral blood clot" ], "HP:0002642": [ "arteriovenous fistula of celiac and mesenteric vessel", "arteriovenous fistulas of celiac and mesenteric vessels", "arteriovenous fistula of coeliac and mesenteric vessel", "arteriovenous fistulas of coeliac and mesenteric vessels" ], "HP:0002643": [ "neonatal respiratory distress", "infantile respiratory distress", "newborn respiratory distress", "respiratory distress , neonatal" ], "HP:0002644": [ "abnormality of pelvic girdle bone morphology", "abnormal shape of pelvic girdle bone", "abnormality of the pelvic girdle" ], "HP:0002645": [ "wormian bone", "wormian bones", "extra bone within cranial suture", "extra bones within cranial sutures", "intra sutural bone", "intra sutural bones", "intrasutural bone", "intrasutural bones", "island of bone within cranial suture", "islands of bone within cranial sutures" ], "HP:0002647": [ "obsolete dissect aortic dilatation", "obsolete dissecting aortic dilatation", "aortic dissection", "tear in inner wall of large artery that carry blood away from heart", "tear in inner wall of large artery that carries blood away from heart" ], "HP:0002648": [ "abnormality of calvarial morphology", "abnormal cranium morphology", "abnormality of cranial bone morphology", "abnormality of skull bone morphology", "abnormality of the shape of calvarium", "abnormality of the shape of cranium", "abnormality of the shape of skull bone", "abnormality of the shape of skull bones", "abnormally shape skull", "abnormally shaped skull" ], "HP:0002650": [ "scoliosis" ], "HP:0002770": [ "scoliosis" ], "HP:0003303": [ "scoliosis" ], "HP:0003317": [ "scoliosis" ], "HP:0003415": [ "scoliosis" ], "HP:0002651": [ "spondyloepimetaphyseal dysplasia" ], "HP:0002652": [ "skeletal dysplasia", "abnormal skeletal development" ], "HP:0005685": [ "skeletal dysplasia", "abnormal skeletal development" ], "HP:0002653": [ "bone pain" ], "HP:0002654": [ "multiple epiphyseal dysplasia" ], "HP:0002655": [ "spondyloepiphyseal dysplasia", "spondyloepiphyseal dysplasia tarda" ], "HP:0002776": [ "spondyloepiphyseal dysplasia", "spondyloepiphyseal dysplasia tarda" ], "HP:0005893": [ "spondyloepiphyseal dysplasia", "spondyloepiphyseal dysplasia tarda" ], "HP:0002656": [ "epiphyseal dysplasia", "abnormal development of end part of bone", "abnormal development of the end of long bone in arm and leg", "abnormal development of the ends of long bones in arms and legs" ], "HP:0002657": [ "spondylometaphyseal dysplasia" ], "HP:0002659": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0002662": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0002798": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0005710": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0005783": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0005931": [ "increase susceptibility to fracture", "increased susceptibility to fractures", "abnormal susceptibility to fracture", "abnormal susceptibility to fractures", "bone fragility", "frequent break bone", "frequent broken bones", "increase bone fragility", "increased bone fragility", "increase tendency to fracture", "increased tendency to fractures" ], "HP:0002661": [ "painless fracture due to injury", "painless fractures due to injury" ], "HP:0002663": [ "delay epiphyseal ossification", "delayed epiphyseal ossification", "delay epiphyseal maturation", "delayed epiphyseal maturation", "delay maturation of end part of long bone", "delayed maturation of end part of long bone", "delay opacification of the epiphysis", "delayed opacification of the epiphyses", "epiphyseal ossification delay" ], "HP:0005862": [ "delay epiphyseal ossification", "delayed epiphyseal ossification", "delay epiphyseal maturation", "delayed epiphyseal maturation", "delay maturation of end part of long bone", "delayed maturation of end part of long bone", "delay opacification of the epiphysis", "delayed opacification of the epiphyses", "epiphyseal ossification delay" ], "HP:0002664": [ "neoplasm", "abnormal tissue mass", "cancer", "neoplasia", "oncological abnormality", "oncology", "tumor", "tumour" ], "HP:0003008": [ "neoplasm", "abnormal tissue mass", "cancer", "neoplasia", "oncological abnormality", "oncology", "tumor", "tumour" ], "HP:0006741": [ "neoplasm", "abnormal tissue mass", "cancer", "neoplasia", "oncological abnormality", "oncology", "tumor", "tumour" ], "HP:0002665": [ "lymphoma", "cancer of lymphatic system" ], "HP:0002666": [ "pheochromocytoma", "chromaffin tumor", "chromaffin tumors", "chromaffin tumour", "chromaffin tumours" ], "HP:0002667": [ "nephroblastoma", "wilm 's tumor", "wilm 's tumour", "wilms tumor", "wilms tumour" ], "HP:0000115": [ "nephroblastoma", "wilm 's tumor", "wilm 's tumour", "wilms tumor", "wilms tumour" ], "HP:0002668": [ "paraganglioma", "carotid body tumor", "carotid body tumors", "carotid body tumour", "carotid body tumours", "paragangliomas" ], "HP:0002670": [ "paraganglioma", "carotid body tumor", "carotid body tumors", "carotid body tumour", "carotid body tumours", "paragangliomas" ], "HP:0003004": [ "paraganglioma", "carotid body tumor", "carotid body tumors", "carotid body tumour", "carotid body tumours", "paragangliomas" ], "HP:0002669": [ "osteosarcoma", "bone cell cancer", "osteogenic sarcoma" ], "HP:0002671": [ "basal cell carcinoma", "basal cell carcinomas", "basal cell epithelioma", "basal cell nevus", "basalioma" ], "HP:0002672": [ "gastrointestinal carcinoma", "gi carcinoma" ], "HP:0002673": [ "coxa valga", "coxa valga deformity" ], "HP:0002676": [ "cloverleaf skull", "cloverleaf cranium shape", "cloverleaf skull shape", "kleeblattschaedel", "trilobar cranium shape", "trilobar skull shape" ], "HP:0004477": [ "cloverleaf skull", "cloverleaf cranium shape", "cloverleaf skull shape", "kleeblattschaedel", "trilobar cranium shape", "trilobar skull shape" ], "HP:0005459": [ "cloverleaf skull", "cloverleaf cranium shape", "cloverleaf skull shape", "kleeblattschaedel", "trilobar cranium shape", "trilobar skull shape" ], "HP:0002677": [ "small foramen magnum", "foramen magnum stenosis", "hypoplasia of foramen magnum", "little foramen magnum", "narrow foramen magnum", "stenosis of foramen magnum" ], "HP:0005468": [ "small foramen magnum", "foramen magnum stenosis", "hypoplasia of foramen magnum", "little foramen magnum", "narrow foramen magnum", "stenosis of foramen magnum" ], "HP:0002678": [ "skull asymmetry", "abnormality of skull shape", "asymmetry of skull", "malformation of skull shape", "unequal skull shape", "uneven skull shape" ], "HP:0002679": [ "abnormal sella turcica morphology", "abnormality of the hypophysial fossa", "abnormality of the pituitary fossa", "abnormality of the sella turcica", "anomaly of the hypophysial fossa", "anomaly of the pituitary fossa", "anomaly of the sella turcica" ], "HP:0002680": [ "j - shaped sella turcica", "hour glass shape hypophysial fossa", "hour glass shaped hypophysial fossa", "hour glass shape pituitary fossa", "hour glass shaped pituitary fossa", "hour glass shape sella turcica", "hour glass shaped sella turcica", "j - shape hypophysial fossa", "j - shaped hypophysial fossa", "j - shape pituitary fossa", "j - shaped pituitary fossa", "j - shape sella", "j - shaped sella", "omega shape hypophysial fossa", "omega shaped hypophysial fossa", "omega shape pituitary fossa", "omega shaped pituitary fossa", "omega shape sella turcica", "omega shaped sella turcica" ], "HP:0002681": [ "deform sella turcica", "deformed sella turcica", "abnormal shape of hypophysial fossa", "abnormal shape of pituitary fossa", "abnormal shape of sella turcica", "deformity of hypophysial fossa", "deformity of pituitary fossa", "malformation of hypophysial fossa", "malformation of pituitary fossa", "malformation of sella turcica" ], "HP:0002682": [ "broad skull", "broad cranium", "increase width of cranium", "increased width of cranium", "increase width of skull", "increased width of skull", "wide cranium", "wide skull" ], "HP:0002683": [ "abnormality of the calvaria", "abnormality of calvarium", "abnormality of cranial vault", "abnormality of cranium", "abnormality of the skull cap", "abnormality of the skullcap" ], "HP:0002684": [ "thicken calvaria", "thickened calvaria", "calvarial thickening", "calvarium thicken", "calvarium thickened", "increase calvarial thickness", "increased calvarial thickness", "increased thickness of calvaria", "increased thickness of calvarium", "increased thickness of cranial vault", "increased thickness of cranium", "increased thickness of skull cap", "thick calvaria", "thick calvarium", "thicken calvarium", "thickened calvarium", "thicken cranial vault", "thickened cranial vault", "thicken cranium", "thickened cranium", "thicken skull cap", "thickened skull cap", "thickening of the calvaria" ], "HP:0002686": [ "prenatal maternal abnormality", "maternal health problem" ], "HP:0002687": [ "abnormality of frontal sinus", "abnormality of sinus frontalis", "abnormality of the forehead sinus" ], "HP:0002688": [ "absent frontal sinus", "absent frontal sinuses", "absence of frontal sinus", "absence of frontal sinuses", "aplasia of frontal sinus", "aplasia sinus frontalis", "miss frontal sinus", "missing frontal sinus" ], "HP:0005452": [ "absent frontal sinus", "absent frontal sinuses", "absence of frontal sinus", "absence of frontal sinuses", "aplasia of frontal sinus", "aplasia sinus frontalis", "miss frontal sinus", "missing frontal sinus" ], "HP:0005475": [ "absent frontal sinus", "absent frontal sinuses", "absence of frontal sinus", "absence of frontal sinuses", "aplasia of frontal sinus", "aplasia sinus frontalis", "miss frontal sinus", "missing frontal sinus" ], "HP:0002689": [ "absent paranasal sinus", "absent paranasal sinuses", "absence of paranasal sinus", "absence of paranasal sinuses", "aplasia of paranasal sinus", "aplasia of paranasal sinuses", "miss paranasal sinus", "missing paranasal sinuses", "miss sinus", "missing sinuses" ], "HP:0002690": [ "large sella turcica", "big sella turcica", "enlarge sella turcica", "enlarged sella turcica", "hyperplasia of hypophysial fossa", "hyperplasia of pituitary fossa", "hyperplasia of sella turcica", "large hypophysial fossa", "large pituitary fossa", "prominent sella turcica" ], "HP:0005444": [ "large sella turcica", "big sella turcica", "enlarge sella turcica", "enlarged sella turcica", "hyperplasia of hypophysial fossa", "hyperplasia of pituitary fossa", "hyperplasia of sella turcica", "large hypophysial fossa", "large pituitary fossa", "prominent sella turcica" ], "HP:0002691": [ "platybasia", "flattening of the skull base", "increase basal angle of skull base", "increased basal angle of skull base", "obtuse basal angle of skull base" ], "HP:0002692": [ "hypoplastic facial bone", "hypoplastic facial bones", "decreased size of facial bone", "decreased size of facial bones", "decreased size of facial skeleton", "flattening of facial bone", "flattening of facial bones", "flattening of facial skeleton", "hypoplasia of facial skeleton", "hypotrophic facial bone", "hypotrophic facial bones", "hypotrophic facial skeleton", "small facial bone", "small facial bones", "small facial skeleton", "underdevelopment of facial bone", "underdevelopment of facial bones", "underdevelopment of facial skeleton" ], "HP:0002693": [ "abnormality of the skull base", "abnormality of cranial base" ], "HP:0002694": [ "sclerosis of skull base", "dense bone of skull base", "hypercalcification of skull base", "hypermineralization of skull base", "hyperossification of skull base", "hyperostosis of skull base", "marked sclerosis of skull base", "sclerosis of cranial base", "sclerosis of the skull base", "sclerotic skull base" ], "HP:0005757": [ "sclerosis of skull base", "dense bone of skull base", "hypercalcification of skull base", "hypermineralization of skull base", "hyperossification of skull base", "hyperostosis of skull base", "marked sclerosis of skull base", "sclerosis of cranial base", "sclerosis of the skull base", "sclerotic skull base" ], "HP:0002695": [ "symmetrical , oval parietal bone defect", "symmetrical , oval parietal bone defects", "symmetrical , oval defect in the parietal bone", "symmetrical , oval defects in the parietal bone" ], "HP:0002696": [ "abnormal parietal bone morphology", "abnormality of the parietal bone", "abnormality of the parietal bone of skull" ], "HP:0002697": [ "parietal foramen", "parietal foramina", "hole in parietal bone", "holes in parietal bones", "opening in parietal bone", "openings in parietal bones", "persistent foramen of the parietal bone", "persistent foramina of the parietal bones" ], "HP:0002699": [ "abnormal foramen magnum morphology", "abnormality of the foramen magnum" ], "HP:0002700": [ "large foramen magnum", "big foramen magnum", "dilation of foramen magnum", "enlarge foramen magnum", "enlarged foramen magnum", "hyperplasia of foramen magnum", "increase circumference of foramen magnum", "increased circumference of foramen magnum", "increase diameter of foramen magnum", "increased diameter of foramen magnum", "wide foramen magnum" ], "HP:0002703": [ "abnormality of skull ossification", "abnormality of bone calcification of calvarium", "abnormality of bone calcification of cranium", "abnormality of bone calcification of skull", "abnormality of bone formation of calvarium", "abnormality of bone formation of cranium", "abnormality of bone mineralization of calvarium", "abnormality of bone mineralization of cranium", "abnormality of bone mineralization of skull", "abnormality of ossification of calvarium", "abnormality of ossification of cranium", "abnormality of skull bone formation" ], "HP:0002705": [ "high , narrow palate", "gothic palate", "high narrow palate", "high vault palate", "high vaulted palate", "narrow and high arch palate", "narrow and high arched palate", "narrow , high - arched palate", "narrow , high - arch roof of mouth", "narrow , high - arched roof of mouth", "narrow , highly arched palate", "narrow , highly arched roof of mouth" ], "HP:0002707": [ "palate telangiectasia", "palatal angioectasia", "palatal spider vein", "palatal spider veins", "palatal telangiectasia", "palate telangiectases", "palate teleangiectases", "spider vein of the roof of the mouth", "spider veins of the roof of the mouth", "telangiectasia of the roof of the mouth" ], "HP:0000229": [ "palate telangiectasia", "palatal angioectasia", "palatal spider vein", "palatal spider veins", "palatal telangiectasia", "palate telangiectases", "palate teleangiectases", "spider vein of the roof of the mouth", "spider veins of the roof of the mouth", "telangiectasia of the roof of the mouth" ], "HP:0002708": [ "prominent median palatal raphe", "prominent central palatal ridge", "prominent central ridge on roof of the mouth", "prominent medial palatal suture" ], "HP:0002710": [ "commissural lip pit", "commissural labial pit", "commissural labial pits", "commissural pit", "lip pit at corner of the mouth", "lip pits at corners of the mouth", "pit at the corner of the lip", "pits at the corners of the lips" ], "HP:0002711": [ "exaggerated median tongue furrow", "deep central lingual furrow", "deep central lingual groove", "deep central tongue furrow", "deep central tongue groove", "deep median lingual furrow", "deep median lingual groove", "deep median tongue furrow", "deep median tongue groove", "exaggerated median lingual furrow" ], "HP:0002714": [ "downturned corner of mouth", "downturned corners of mouth", "downturned corner of the mouth", "downturned corners of the mouth", "downturned mouth", "downturned oral commisures" ], "HP:0000192": [ "downturned corner of mouth", "downturned corners of mouth", "downturned corner of the mouth", "downturned corners of the mouth", "downturned mouth", "downturned oral commisures" ], "HP:0002715": [ "abnormality of the immune system", "immunological abnormality" ], "HP:0003257": [ "abnormality of the immune system", "immunological abnormality" ], "HP:0003346": [ "abnormality of the immune system", "immunological abnormality" ], "HP:0010986": [ "abnormality of the immune system", "immunological abnormality" ], "HP:0002716": [ "lymphadenopathy", "lymph node hyperplasia", "swollen lymph node", "swollen lymph nodes" ], "HP:0002735": [ "lymphadenopathy", "lymph node hyperplasia", "swollen lymph node", "swollen lymph nodes" ], "HP:0002717": [ "adrenal overactivity" ], "HP:0002718": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005355": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005361": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005367": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005391": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005393": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0005410": [ "recurrent bacterial infection", "recurrent bacterial infections", "bacterial infection , recurrent", "bacterial infections , recurrent", "frequent bacterial infection", "frequent bacterial infections", "frequent pyogenic infection", "frequent pyogenic infections", "increase susceptibility to bacterial infection", "increased susceptibility to bacterial infections", "prone to bacterial infection", "recurrent major bacterial infection", "recurrent major bacterial infections", "recurrent pyogenic infection", "recurrent pyogenic infections", "susceptibility to pyogenic infection" ], "HP:0002719": [ "recurrent infection", "recurrent infections", "frequent infection", "frequent infections", "frequent , severe infection", "frequent , severe infections", "increased frequency of infection", "infection , recurrent", "infections , recurrent", "predisposition to infection", "predisposition to infections", "susceptibility to infection" ], "HP:0002957": [ "recurrent infection", "recurrent infections", "frequent infection", "frequent infections", "frequent , severe infection", "frequent , severe infections", "increased frequency of infection", "infection , recurrent", "infections , recurrent", "predisposition to infection", "predisposition to infections", "susceptibility to infection" ], "HP:0002964": [ "recurrent infection", "recurrent infections", "frequent infection", "frequent infections", "frequent , severe infection", "frequent , severe infections", "increased frequency of infection", "infection , recurrent", "infections , recurrent", "predisposition to infection", "predisposition to infections", "susceptibility to infection" ], "HP:0005405": [ "recurrent infection", "recurrent infections", "frequent infection", "frequent infections", "frequent , severe infection", "frequent , severe infections", "increased frequency of infection", "infection , recurrent", "infections , recurrent", "predisposition to infection", "predisposition to infections", "susceptibility to infection" ], "HP:0002720": [ "decrease circulate iga level", "decreased circulating iga level", "decrease iga", "decreased iga", "decrease immunoglobulin a", "decreased immunoglobulin a", "gamma - a globulin deficiency", "iga deficiency", "low level of immunoglobulin a", "low levels of immunoglobulin a", "reduce iga level", "reduced iga levels" ], "HP:0005358": [ "decrease circulate iga level", "decreased circulating iga level", "decrease iga", "decreased iga", "decrease immunoglobulin a", "decreased immunoglobulin a", "gamma - a globulin deficiency", "iga deficiency", "low level of immunoglobulin a", "low levels of immunoglobulin a", "reduce iga level", "reduced iga levels" ], "HP:0005399": [ "decrease circulate iga level", "decreased circulating iga level", "decrease iga", "decreased iga", "decrease immunoglobulin a", "decreased immunoglobulin a", "gamma - a globulin deficiency", "iga deficiency", "low level of immunoglobulin a", "low levels of immunoglobulin a", "reduce iga level", "reduced iga levels" ], "HP:0005431": [ "decrease circulate iga level", "decreased circulating iga level", "decrease iga", "decreased iga", "decrease immunoglobulin a", "decreased immunoglobulin a", "gamma - a globulin deficiency", "iga deficiency", "low level of immunoglobulin a", "low levels of immunoglobulin a", "reduce iga level", "reduced iga levels" ], "HP:0008350": [ "decrease circulate iga level", "decreased circulating iga level", "decrease iga", "decreased iga", "decrease immunoglobulin a", "decreased immunoglobulin a", "gamma - a globulin deficiency", "iga deficiency", "low level of immunoglobulin a", "low levels of immunoglobulin a", "reduce iga level", "reduced iga levels" ], "HP:0002721": [ "immunodeficiency", "decrease immune function", "decreased immune function", "immune deficiency" ], "HP:0005362": [ "immunodeficiency", "decrease immune function", "decreased immune function", "immune deficiency" ], "HP:0005371": [ "immunodeficiency", "decrease immune function", "decreased immune function", "immune deficiency" ], "HP:0002722": [ "recurrent abscess formation" ], "HP:0002723": [ "absence of bactericidal oxidative respiratory burst in phagocyte", "absence of bactericidal oxidative respiratory burst in phagocytes" ], "HP:0002724": [ "recurrent aspergillus infection", "recurrent aspergillus infections", "aspergillus infection , recurrent", "aspergillus infections , recurrent" ], "HP:0002725": [ "systemic lupus erythematosus" ], "HP:0002726": [ "recurrent staphylococcus aureus infection", "recurrent staphylococcus aureus infections", "staphylococcus aureus infection , recurrent", "staphylococcus aureus infections , recurrent" ], "HP:0002728": [ "chronic mucocutaneous candidiasis", "chronic candidiasis of mucosa , skin and nail", "chronic candidiasis of mucosa , skin and nails", "mucocutaneous candidiasis" ], "HP:0005392": [ "chronic mucocutaneous candidiasis", "chronic candidiasis of mucosa , skin and nail", "chronic candidiasis of mucosa , skin and nails", "mucocutaneous candidiasis" ], "HP:0002729": [ "follicular hyperplasia" ], "HP:0002730": [ "chronic noninfectious lymphadenopathy" ], "HP:0002731": [ "decrease lymphocyte apoptosis", "decreased lymphocyte apoptosis", "defective lymphocyte apoptosis" ], "HP:0002732": [ "lymph node hypoplasia", "small lymph node", "small lymph nodes" ], "HP:0002733": [ "abnormality of the lymph node", "abnormality of the lymph nodes", "abnormal lymph node histology" ], "HP:0008149": [ "abnormality of the lymph node", "abnormality of the lymph nodes", "abnormal lymph node histology" ], "HP:0002737": [ "thick skull base", "increased thickness of bone of skull base", "increased thickness of skull base" ], "HP:0002738": [ "hypoplastic frontal sinus", "hypoplastic frontal sinuses", "decreased pneumatization of frontal sinus", "decreased volume of frontal sinus", "decreased volume of frontal sinuses", "hypotrophic frontal sinus", "small frontal sinus", "small frontal sinuses", "underdeveloped frontal sinus", "underdeveloped frontal sinuses" ], "HP:0002740": [ "recurrent e. coli infection", "recurrent e. coli infections", "e coli infection", "e coli infections", "e coli infection , recurrent", "e coli infections , recurrent" ], "HP:0002741": [ "recurrent serratia marcescens infection", "recurrent serratia marcescens infections" ], "HP:0002742": [ "recurrent klebsiella infection", "recurrent klebsiella infections", "klebsiella infection , recurrent", "klebsiella infections , recurrent" ], "HP:0002743": [ "recurrent enteroviral infection", "recurrent enteroviral infections" ], "HP:0002744": [ "bilateral cleft lip and palate", "bilateral cleft lip and cleft palate", "right and leave cleft lip and palate", "right and left cleft lip and palate" ], "HP:0002745": [ "oral leukoplakia", "leukokeratosis", "oral idiopathic keratosis", "oral idiopathic leukoplakia", "oral idiopathic white patch", "oral leucoplakia", "oral leukokeratosis", "oral leukoplasia", "oral white patch", "oral white plaque" ], "HP:0002747": [ "respiratory insufficiency due to muscle weakness", "decrease lung function due to weak breathing muscle", "decreased lung function due to weak breathing muscles", "decreased respiratory function due to muscle weakness", "respiratory distress due to muscle weakness", "respiratory failure due to muscle weakness", "respiratory muscle weakness" ], "HP:0004882": [ "respiratory insufficiency due to muscle weakness", "decrease lung function due to weak breathing muscle", "decreased lung function due to weak breathing muscles", "decreased respiratory function due to muscle weakness", "respiratory distress due to muscle weakness", "respiratory failure due to muscle weakness", "respiratory muscle weakness" ], "HP:0004888": [ "respiratory insufficiency due to muscle weakness", "decrease lung function due to weak breathing muscle", "decreased lung function due to weak breathing muscles", "decreased respiratory function due to muscle weakness", "respiratory distress due to muscle weakness", "respiratory failure due to muscle weakness", "respiratory muscle weakness" ], "HP:0002748": [ "rickets", "weak and soft bone", "weak and soft bones" ], "HP:0002749": [ "osteomalacia", "softening of the bone", "softening of the bones" ], "HP:0002750": [ "delay skeletal maturation", "delayed skeletal maturation", "delay bone age", "delayed bone age", "delay bone age before puberty", "delayed bone age before puberty", "delay bone maturation", "delayed bone maturation", "delay skeletal development", "delayed skeletal development", "retard bone age", "retarded bone age", "retard ossification", "retarded ossification", "skeletal maturation retardation" ], "HP:0000928": [ "delay skeletal maturation", "delayed skeletal maturation", "delay bone age", "delayed bone age", "delay bone age before puberty", "delayed bone age before puberty", "delay bone maturation", "delayed bone maturation", "delay skeletal development", "delayed skeletal development", "retard bone age", "retarded bone age", "retard ossification", "retarded ossification", "skeletal maturation retardation" ], "HP:0002806": [ "delay skeletal maturation", "delayed skeletal maturation", "delay bone age", "delayed bone age", "delay bone age before puberty", "delayed bone age before puberty", "delay bone maturation", "delayed bone maturation", "delay skeletal development", "delayed skeletal development", "retard bone age", "retarded bone age", "retard ossification", "retarded ossification", "skeletal maturation retardation" ], "HP:0002751": [ "kyphoscoliosis" ], "HP:0003412": [ "kyphoscoliosis" ], "HP:0003424": [ "kyphoscoliosis" ], "HP:0004593": [ "kyphoscoliosis" ], "HP:0005728": [ "kyphoscoliosis" ], "HP:0002752": [ "sparse bone trabecula", "sparse bone trabeculae" ], "HP:0002753": [ "thin bony cortex", "thin cortex", "thin cortices" ], "HP:0003104": [ "thin bony cortex", "thin cortex", "thin cortices" ], "HP:0002754": [ "osteomyelitis", "bone infection", "obsolete osteomyelitis due to immunodeficiency", "obsolete chronic recurrent multifocal osteomyelitis" ], "HP:0002755": [ "osteomyelitis", "bone infection", "obsolete osteomyelitis due to immunodeficiency", "obsolete chronic recurrent multifocal osteomyelitis" ], "HP:0005901": [ "osteomyelitis", "bone infection", "obsolete osteomyelitis due to immunodeficiency", "obsolete chronic recurrent multifocal osteomyelitis" ], "HP:0002756": [ "pathologic fracture", "pathologic fractures", "spontaneous fracture", "spontaneous fractures" ], "HP:0005633": [ "pathologic fracture", "pathologic fractures", "spontaneous fracture", "spontaneous fractures" ], "HP:0002757": [ "recurrent fracture", "recurrent fractures", "frequent fracture", "frequent fractures", "increased fracture rate", "increase fracture", "increased fractures", "multiple fracture", "multiple fractures", "multiple spontaneous fracture", "multiple spontaneous fractures", "vary degree of multiple fracture", "varying degree of multiple fractures" ], "HP:0002660": [ "recurrent fracture", "recurrent fractures", "frequent fracture", "frequent fractures", "increased fracture rate", "increase fracture", "increased fractures", "multiple fracture", "multiple fractures", "multiple spontaneous fracture", "multiple spontaneous fractures", "vary degree of multiple fracture", "varying degree of multiple fractures" ], "HP:0002767": [ "recurrent fracture", "recurrent fractures", "frequent fracture", "frequent fractures", "increased fracture rate", "increase fracture", "increased fractures", "multiple fracture", "multiple fractures", "multiple spontaneous fracture", "multiple spontaneous fractures", "vary degree of multiple fracture", "varying degree of multiple fractures" ], "HP:0002809": [ "recurrent fracture", "recurrent fractures", "frequent fracture", "frequent fractures", "increased fracture rate", "increase fracture", "increased fractures", "multiple fracture", "multiple fractures", "multiple spontaneous fracture", "multiple spontaneous fractures", "vary degree of multiple fracture", "varying degree of multiple fractures" ], "HP:0002758": [ "obsolete degenerative joint disease", "osteoarthritis", "degenerative joint disease" ], "HP:0002824": [ "obsolete degenerative joint disease", "osteoarthritis", "degenerative joint disease" ], "HP:0005762": [ "obsolete degenerative joint disease", "osteoarthritis", "degenerative joint disease" ], "HP:0002761": [ "generalize joint laxity", "generalized joint laxity", "generalise joint laxity", "generalised joint laxity", "hypermobility of all joint", "hypermobility of all joints", "joint laxity , generalise", "joint laxity , generalised", "joint laxity , generalize", "joint laxity , generalized" ], "HP:0002762": [ "multiple exostosis", "multiple exostoses" ], "HP:0002763": [ "abnormal cartilage morphology", "abnormal shape of cartilage", "abnormality of cartilage morphology", "obsolete abnormality of cartilage morphology" ], "HP:0410007": [ "abnormal cartilage morphology", "abnormal shape of cartilage", "abnormality of cartilage morphology", "obsolete abnormality of cartilage morphology" ], "HP:0002764": [ "stipple chondral calcification", "stippled chondral calcification" ], "HP:0002766": [ "relatively short spine" ], "HP:0002773": [ "obsolete small vertebral body", "obsolete small vertebral bodies", "hypoplastic vertebral body", "hypoplastic vertebral bodies", "small vertebra", "small vertebrae", "small vertebral body", "small vertebral bodies", "underdeveloped back bone", "underdeveloped back bones" ], "HP:0002777": [ "tracheal stenosis", "narrowing of windpipe" ], "HP:0002778": [ "abnormal tracheal morphology", "abnormal trachea morphology", "abnormality of the trachea", "tracheal disease" ], "HP:0002779": [ "tracheomalacia", "floppy windpipe" ], "HP:0002780": [ "bronchomalacia" ], "HP:0002781": [ "upper airway obstruction" ], "HP:0002783": [ "recurrent low respiratory tract infection", "recurrent lower respiratory tract infections", "chronic lung infection", "chronic lung infections", "low respiratory tract infection", "lower respiratory tract infections", "recurrent chest infection", "recurrent chest infections" ], "HP:0004884": [ "recurrent low respiratory tract infection", "recurrent lower respiratory tract infections", "chronic lung infection", "chronic lung infections", "low respiratory tract infection", "lower respiratory tract infections", "recurrent chest infection", "recurrent chest infections" ], "HP:0005955": [ "recurrent low respiratory tract infection", "recurrent lower respiratory tract infections", "chronic lung infection", "chronic lung infections", "low respiratory tract infection", "lower respiratory tract infections", "recurrent chest infection", "recurrent chest infections" ], "HP:0002786": [ "tracheobronchomalacia" ], "HP:0002787": [ "tracheal calcification", "calcification of the trachea", "tracheal calcifications", "tracheal ectopic calcification" ], "HP:0002788": [ "recurrent upper respiratory tract infection", "recurrent upper respiratory tract infections", "frequent upper respiratory infection", "frequent upper respiratory infections", "frequent upper respiratory tract infection", "frequent upper respiratory tract infections", "recurrent cold", "recurrent colds", "recurrent upper respiratory and low respiratory infection", "recurrent upper respiratory and lower respiratory infections", "recurrent upper respiratory infection", "recurrent upper respiratory infections", "recurrent uri", "upper respiratory tract infection", "upper respiratory tract infections", "upper respiratory tract infection , recurrent", "upper respiratory tract infections , recurrent" ], "HP:0001740": [ "recurrent upper respiratory tract infection", "recurrent upper respiratory tract infections", "frequent upper respiratory infection", "frequent upper respiratory infections", "frequent upper respiratory tract infection", "frequent upper respiratory tract infections", "recurrent cold", "recurrent colds", "recurrent upper respiratory and low respiratory infection", "recurrent upper respiratory and lower respiratory infections", "recurrent upper respiratory infection", "recurrent upper respiratory infections", "recurrent uri", "upper respiratory tract infection", "upper respiratory tract infections", "upper respiratory tract infection , recurrent", "upper respiratory tract infections , recurrent" ], "HP:0002784": [ "recurrent upper respiratory tract infection", "recurrent upper respiratory tract infections", "frequent upper respiratory infection", "frequent upper respiratory infections", "frequent upper respiratory tract infection", "frequent upper respiratory tract infections", "recurrent cold", "recurrent colds", "recurrent upper respiratory and low respiratory infection", "recurrent upper respiratory and lower respiratory infections", "recurrent upper respiratory infection", "recurrent upper respiratory infections", "recurrent uri", "upper respiratory tract infection", "upper respiratory tract infections", "upper respiratory tract infection , recurrent", "upper respiratory tract infections , recurrent" ], "HP:0002789": [ "tachypnea", "increase respiratory rate or depth of breathe", "increased respiratory rate or depth of breathing", "polypnea" ], "HP:0002874": [ "tachypnea", "increase respiratory rate or depth of breathe", "increased respiratory rate or depth of breathing", "polypnea" ], "HP:0004346": [ "tachypnea", "increase respiratory rate or depth of breathe", "increased respiratory rate or depth of breathing", "polypnea" ], "HP:0002790": [ "neonatal breathing dysregulation", "impaired breathing in newborn" ], "HP:0002791": [ "hypoventilation", "alveolar hypoventilation", "respiratory depression", "slow breathing", "under breathe", "under breathing" ], "HP:0004892": [ "hypoventilation", "alveolar hypoventilation", "respiratory depression", "slow breathing", "under breathe", "under breathing" ], "HP:0002792": [ "reduce vital capacity", "reduced vital capacity", "decrease vital capacity", "decreased vital capacity" ], "HP:0002793": [ "abnormal pattern of respiration", "abnormal respiratory pattern", "abnormal respiratory patterns", "unusual breathing pattern", "unusual breathing patterns" ], "HP:0002795": [ "abnormal respiratory system physiology", "abnormal respiration", "functional respiratory abnormality", "respiratory problem" ], "HP:0002797": [ "osteolysis", "breakdown of bone", "increase bone resorption", "increased bone resorption", "osteolytic defect of bone", "osteolytic defects of bones" ], "HP:0010737": [ "osteolysis", "breakdown of bone", "increase bone resorption", "increased bone resorption", "osteolytic defect of bone", "osteolytic defects of bones" ], "HP:0002803": [ "congenital contracture", "congenital contractures", "congenital joint contracture", "congenital joint contractures" ], "HP:0002804": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0001389": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0001390": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0002759": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0005188": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0005663": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0005809": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0005859": [ "arthrogryposis multiplex congenita", "arthrogryposis", "arthrogryposis multiplex", "arthrogryposis , congenital", "multiple congenital contracture", "multiple congenital contractures" ], "HP:0002805": [ "accelerate bone age after puberty", "accelerated bone age after puberty" ], "HP:0002808": [ "kyphosis", "gibbus deformity", "hunch back", "hunched back", "hyperkyphosis", "round back" ], "HP:0002769": [ "kyphosis", "gibbus deformity", "hunch back", "hunched back", "hyperkyphosis", "round back" ], "HP:0003314": [ "kyphosis", "gibbus deformity", "hunch back", "hunched back", "hyperkyphosis", "round back" ], "HP:0002810": [ "dumbbell - shaped metaphyses", "dumbbell shape metaphyses", "dumbbell shaped metaphyses", "dumbbell shape metaphysis", "dumbbell shaped metaphysis", "dumbbell shape wide portion of long bone", "dumbbell shaped wide portion of long bone" ], "HP:0005079": [ "dumbbell - shaped metaphyses", "dumbbell shape metaphyses", "dumbbell shaped metaphyses", "dumbbell shape metaphysis", "dumbbell shaped metaphysis", "dumbbell shape wide portion of long bone", "dumbbell shaped wide portion of long bone" ], "HP:0002812": [ "coxa vara" ], "HP:0002813": [ "abnormality of limb bone morphology", "abnormal shape of limb bone", "arm and / or leg bone difference", "arm and / or leg bone differences", "limb abnormality" ], "HP:0002814": [ "abnormality of the low limb", "abnormality of the lower limb", "abnormality of the leg", "low limb deformity", "lower limb deformities" ], "HP:0002815": [ "abnormality of the knee" ], "HP:0002816": [ "genu recurvatum", "back knee", "genu recurvata", "knee hyperextension" ], "HP:0002817": [ "abnormality of the upper limb", "abnormality of the arm" ], "HP:0003838": [ "abnormality of the upper limb", "abnormality of the arm" ], "HP:0002818": [ "abnormality of the radius" ], "HP:0002821": [ "neuropathic arthropathy", "charcot arthropathy", "charcot joint" ], "HP:0002822": [ "hyperplasia of the femoral trochanter", "hyperplasia of the femoral trochanters", "hyperplastic femoral trochanter", "hyperplastic femoral trochanters" ], "HP:0002823": [ "abnormality of femur morphology", "abnormality of the femur", "abnormality of the femora", "abnormality of the thighbone" ], "HP:0001439": [ "abnormality of femur morphology", "abnormality of the femur", "abnormality of the femora", "abnormality of the thighbone" ], "HP:0002825": [ "caudal appendage", "coccygeal tail", "human tail" ], "HP:0002826": [ "halberd - shape pelvis", "halberd - shaped pelvis", "halberd - shape pelvis bone", "halberd - shaped pelvis bone" ], "HP:0002827": [ "hip dislocation", "dislocate hip", "dislocated hips", "dislocation of hip" ], "HP:0001375": [ "hip dislocation", "dislocate hip", "dislocated hips", "dislocation of hip" ], "HP:0002828": [ "multiple joint contracture", "multiple joint contractures" ], "HP:0002829": [ "arthralgia", "arthralgias", "arthritic pain", "joint pain", "joint pains" ], "HP:0002831": [ "long coccyx", "long tailbone" ], "HP:0002832": [ "calcific stipple", "calcific stippling", "discrete calcific stipple", "discrete calcific stippling" ], "HP:0005738": [ "calcific stipple", "calcific stippling", "discrete calcific stipple", "discrete calcific stippling" ], "HP:0002833": [ "cystic angiomatosis of bone", "lytic cystic lesion in appendicular bone", "lytic cystic lesions in appendicular bones" ], "HP:0002834": [ "flared femoral metaphysis", "flared metaphysis of thigh bone" ], "HP:0002835": [ "aspiration", "pulmonary aspiration" ], "HP:0002836": [ "bladder exstrophy", "ectopia vesica", "ectopia vesicae" ], "HP:0002837": [ "recurrent bronchitis", "bronchitis , recurrent" ], "HP:0002785": [ "recurrent bronchitis", "bronchitis , recurrent" ], "HP:0002839": [ "urinary bladder sphincter dysfunction", "sphincter disturbance", "sphincter disturbances" ], "HP:0000018": [ "urinary bladder sphincter dysfunction", "sphincter disturbance", "sphincter disturbances" ], "HP:0002840": [ "lymphadenitis", "inflammation of the lymph node", "inflammation of the lymph nodes" ], "HP:0002841": [ "recurrent fungal infection", "recurrent fungal infections" ], "HP:0005350": [ "recurrent fungal infection", "recurrent fungal infections" ], "HP:0005380": [ "recurrent fungal infection", "recurrent fungal infections" ], "HP:0005388": [ "recurrent fungal infection", "recurrent fungal infections" ], "HP:0002842": [ "recurrent burkholderia cepacia infection", "recurrent burkholderia cepacia infections" ], "HP:0002843": [ "abnormal t cell morphology", "abnormal t cell", "abnormal t cells", "abnormality of t cell", "abnormality of t cells", "cellular immune defect", "defective cellular immunity", "obsolete abnormal t cell morphology" ], "HP:0002734": [ "abnormal t cell morphology", "abnormal t cell", "abnormal t cells", "abnormality of t cell", "abnormality of t cells", "cellular immune defect", "defective cellular immunity", "obsolete abnormal t cell morphology" ], "HP:0030332": [ "abnormal t cell morphology", "abnormal t cell", "abnormal t cells", "abnormality of t cell", "abnormality of t cells", "cellular immune defect", "defective cellular immunity", "obsolete abnormal t cell morphology" ], "HP:0002845": [ "obsolete increase proportion of peripheral cd3+ t cell", "obsolete increased proportion of peripheral cd3+ t cells", "elevate proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell", "elevated proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells", "increased number of cd4 - / cd8 - t cell express alpha / beta t - cell receptor", "increased number of cd4 - / cd8 - t cells expressing alpha / beta t - cell receptors" ], "HP:0002846": [ "abnormal b cell morphology", "abnormal b cell", "abnormal b cells", "abnormality of b cell", "abnormality of b cells" ], "HP:0002847": [ "impaired memory b cell generation" ], "HP:0002848": [ "decrease specific anti - polysaccharide antibody level", "decreased specific anti - polysaccharide antibody level", "depress antibody response to polysaccharide antigen", "depressed antibody response to polysaccharide antigens", "low specific anti - polysaccharide antibody titer", "specific anti - polysaccharide antibody deficiency" ], "HP:0002849": [ "absence of lymph node germinal center", "absence of lymph node germinal centre", "lymph node lack germinal center", "lymph nodes lack germinal center", "lymph node lack germinal centre", "lymph nodes lack germinal centre", "lymphoid germinal center defect", "lymphoid germinal centre defect" ], "HP:0002850": [ "decrease circulate total igm", "decreased circulating total igm", "decrease igm", "decreased igm", "decrease igm level", "decreased igm level", "igm deficiency", "reduce igm level", "reduced igm levels" ], "HP:0003147": [ "decrease circulate total igm", "decreased circulating total igm", "decrease igm", "decreased igm", "decrease igm level", "decreased igm level", "igm deficiency", "reduce igm level", "reduced igm levels" ], "HP:0005385": [ "decrease circulate total igm", "decreased circulating total igm", "decrease igm", "decreased igm", "decrease igm level", "decreased igm level", "igm deficiency", "reduce igm level", "reduced igm levels" ], "HP:0002851": [ "obsolete increase proportion of peripheral cd3+ t cell", "obsolete increased proportion of peripheral cd3+ t cells", "elevate proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell", "elevated proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells", "increased number of cd4 - / cd8 - t cell express alpha / beta t - cell receptor", "increased number of cd4 - / cd8 - t cells expressing alpha / beta t - cell receptors" ], "HP:0002853": [ "increase proportion of hla dr+ t cell", "increased proportion of hla dr+ t cells" ], "HP:0002857": [ "genu valgum", "genu valga", "genu valgus", "genua valga", "knee joint valgus deformity", "knock knee", "knock knees" ], "HP:0004999": [ "genu valgum", "genu valga", "genu valgus", "genua valga", "knee joint valgus deformity", "knock knee", "knock knees" ], "HP:0002858": [ "meningioma", "noncancerous growth of membrane cover brain", "noncancerous growth of membranes covering brain" ], "HP:0006754": [ "meningioma", "noncancerous growth of membrane cover brain", "noncancerous growth of membranes covering brain" ], "HP:0002859": [ "rhabdomyosarcoma" ], "HP:0002860": [ "squamous cell carcinoma", "squamous cell cancer" ], "HP:0002861": [ "melanoma", "cancer of skin pigment cell", "cancer of skin pigment cells", "malignant melanoma", "skin cancer ( melanoma )" ], "HP:0002887": [ "melanoma", "cancer of skin pigment cell", "cancer of skin pigment cells", "malignant melanoma", "skin cancer ( melanoma )" ], "HP:0006777": [ "melanoma", "cancer of skin pigment cell", "cancer of skin pigment cells", "malignant melanoma", "skin cancer ( melanoma )" ], "HP:0007474": [ "melanoma", "cancer of skin pigment cell", "cancer of skin pigment cells", "malignant melanoma", "skin cancer ( melanoma )" ], "HP:0002862": [ "bladder carcinoma" ], "HP:0002863": [ "myelodysplasia", "hypoplastic myelodysplasia", "myelodysplastic syndrome" ], "HP:0004832": [ "myelodysplasia", "hypoplastic myelodysplasia", "myelodysplastic syndrome" ], "HP:0006730": [ "myelodysplasia", "hypoplastic myelodysplasia", "myelodysplastic syndrome" ], "HP:0002864": [ "paraganglioma of head and neck", "paragangliomas , head and neck" ], "HP:0002865": [ "medullary thyroid carcinoma", "medullary thyroid cancer" ], "HP:0002866": [ "hypoplastic iliac wing", "hypoplastic iliac ala", "hypoplastic iliac alae", "hypoplastic iliac wings", "small iliac wing", "small iliac wings" ], "HP:0003169": [ "hypoplastic iliac wing", "hypoplastic iliac ala", "hypoplastic iliac alae", "hypoplastic iliac wings", "small iliac wing", "small iliac wings" ], "HP:0003181": [ "hypoplastic iliac wing", "hypoplastic iliac ala", "hypoplastic iliac alae", "hypoplastic iliac wings", "small iliac wing", "small iliac wings" ], "HP:0008837": [ "hypoplastic iliac wing", "hypoplastic iliac ala", "hypoplastic iliac alae", "hypoplastic iliac wings", "small iliac wing", "small iliac wings" ], "HP:0002867": [ "abnormal ilium morphology", "abnormality of the ilium", "iliac abnormality", "iliac abnormalities" ], "HP:0002868": [ "narrow iliac wing", "narrow iliac wings" ], "HP:0002869": [ "flare iliac wing", "flared iliac wing", "flared iliac wings" ], "HP:0002870": [ "obstructive sleep apnea", "obstructive sleep apnoea" ], "HP:0002871": [ "central apnea", "central apnoea" ], "HP:0002872": [ "apneic episode precipitate by illness , fatigue , stress", "apneic episodes precipitated by illness , fatigue , stress", "episodic apnea induce by febrile illness or stress", "episodic apnea induced by febrile illness or stress" ], "HP:0002875": [ "exertional dyspnea", "exertional breathlessness", "exertional dyspnoea", "shortness of breathe upon physical activity", "shortness of breathing upon physical activity" ], "HP:0002876": [ "episodic tachypnea", "hyperpnea , episodic" ], "HP:0002881": [ "episodic tachypnea", "hyperpnea , episodic" ], "HP:0002877": [ "nocturnal hypoventilation", "hypoventilation during sleep", "nocturnal hypopnea", "nocturnal slow breathing", "nocturnal under breathe", "nocturnal under breathing" ], "HP:0002878": [ "respiratory failure" ], "HP:0004877": [ "respiratory failure" ], "HP:0002879": [ "anisospondyly" ], "HP:0002882": [ "sudden episodic apnea" ], "HP:0002883": [ "hyperventilation", "rapid breathing" ], "HP:0002884": [ "hepatoblastoma" ], "HP:0002885": [ "medulloblastoma" ], "HP:0002886": [ "vagal paraganglioma", "glomus vagale paraganglioma", "glomus vagale tumor", "glomus vagale tumour", "vagal nerve tumor", "vagal nerve tumors", "vagal nerve tumour", "vagal nerve tumours" ], "HP:0002888": [ "ependymoma" ], "HP:0002890": [ "thyroid carcinoma" ], "HP:0002891": [ "uterine leiomyosarcoma" ], "HP:0002893": [ "pituitary adenoma", "noncancerous tumor in pituitary gland", "noncancerous tumour in pituitary gland" ], "HP:0002894": [ "neoplasm of the pancreas", "cancer of the pancreas", "increase risk of pancreatic cancer", "increased risk of pancreatic cancer", "neoplasia of the pancreas", "pancreatic cancer", "pancreatic tumor", "pancreatic tumour" ], "HP:0004511": [ "neoplasm of the pancreas", "cancer of the pancreas", "increase risk of pancreatic cancer", "increased risk of pancreatic cancer", "neoplasia of the pancreas", "pancreatic cancer", "pancreatic tumor", "pancreatic tumour" ], "HP:0002895": [ "papillary thyroid carcinoma", "papillary carcinoma of thyroid", "thyroid papillary carcinoma" ], "HP:0002896": [ "neoplasm of the liver", "liver cancer", "liver tumor", "liver tumour" ], "HP:0002897": [ "parathyroid adenoma", "parathyroid adenomas" ], "HP:0008257": [ "parathyroid adenoma", "parathyroid adenomas" ], "HP:0002898": [ "embryonal neoplasm", "embryonal neoplasia", "embryonal tumor", "embryonal tumors", "embryonal tumour", "embryonal tumours" ], "HP:0002900": [ "hypokalemia", "low blood potassium level", "low blood potassium levels" ], "HP:0002901": [ "hypocalcemia", "hypocalcaemia", "low blood calcium level", "low blood calcium levels" ], "HP:0002902": [ "hyponatremia", "low blood sodium level", "low blood sodium levels" ], "HP:0002904": [ "hyperbilirubinemia", "high blood bilirubin level", "high blood bilirubin levels" ], "HP:0002905": [ "hyperphosphatemia", "high blood phosphate level", "high blood phosphate levels" ], "HP:0002907": [ "microscopic hematuria", "microhematuria", "occult hematuria", "small amount of blood in urine" ], "HP:0002908": [ "conjugate hyperbilirubinemia", "conjugated hyperbilirubinemia", "direct hyperbilirubinemia" ], "HP:0008351": [ "conjugate hyperbilirubinemia", "conjugated hyperbilirubinemia", "direct hyperbilirubinemia" ], "HP:0002909": [ "generalize aminoaciduria", "generalized aminoaciduria", "generalise aminoaciduria", "generalised aminoaciduria", "generalise nonspecific aminoaciduria", "generalised nonspecific aminoaciduria", "generalize nonspecific aminoaciduria", "generalized nonspecific aminoaciduria" ], "HP:0008284": [ "generalize aminoaciduria", "generalized aminoaciduria", "generalise aminoaciduria", "generalised aminoaciduria", "generalise nonspecific aminoaciduria", "generalised nonspecific aminoaciduria", "generalize nonspecific aminoaciduria", "generalized nonspecific aminoaciduria" ], "HP:0008317": [ "generalize aminoaciduria", "generalized aminoaciduria", "generalise aminoaciduria", "generalised aminoaciduria", "generalise nonspecific aminoaciduria", "generalised nonspecific aminoaciduria", "generalize nonspecific aminoaciduria", "generalized nonspecific aminoaciduria" ], "HP:0002910": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0001411": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0003143": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0003156": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0003293": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0006567": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0006578": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0008267": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0008342": [ "elevate hepatic transaminase", "elevated hepatic transaminase", "abnormal liver enzyme", "abnormal liver enzymes", "abnormal liver function", "abnormal liver function test", "abnormal liver function tests", "elevate liver enzyme", "elevated liver enzymes", "elevate liver function test", "elevated liver function tests", "elevate serum transaminase", "elevated serum transaminases", "elevate transaminase", "elevated transaminases", "high liver enzyme", "high liver enzymes", "increase liver enzyme", "increased liver enzymes", "increase liver function test", "increased liver function tests", "increase transaminase", "increased transaminases", "raise liver enzyme", "raised liver enzymes", "subclinical abnormal liver function test", "subclinical abnormal liver function tests" ], "HP:0002912": [ "methylmalonic acidemia", "elevate circulate methylmalonic acid concentration", "elevated circulating methylmalonic acid concentration" ], "HP:0003123": [ "methylmalonic acidemia", "elevate circulate methylmalonic acid concentration", "elevated circulating methylmalonic acid concentration" ], "HP:0008295": [ "methylmalonic acidemia", "elevate circulate methylmalonic acid concentration", "elevated circulating methylmalonic acid concentration" ], "HP:0002913": [ "myoglobinuria" ], "HP:0002914": [ "hyperchloriduria", "increase urinary chloride", "increased urinary chloride" ], "HP:0002916": [ "abnormality of chromosome segregation" ], "HP:0002917": [ "hypomagnesemia", "low blood magnesium level", "low blood magnesium levels", "low blood mg level", "low blood mg levels" ], "HP:0003284": [ "hypomagnesemia", "low blood magnesium level", "low blood magnesium levels", "low blood mg level", "low blood mg levels" ], "HP:0002918": [ "hypermagnesemia", "high blood magnesium level", "high blood magnesium levels", "high blood mg level", "high blood mg levels" ], "HP:0002919": [ "ketonuria", "acetonuria", "ketoaciduria", "ketonaciduria", "ketone body in urine", "ketone bodies in urine" ], "HP:0002920": [ "decrease circulate acth level", "decreased circulating acth level" ], "HP:0002921": [ "abnormality of the cerebrospinal fluid", "abnormal csf finding", "abnormal csf findings", "abnormality of the csf" ], "HP:0002922": [ "increase csf protein", "increased csf protein", "cerebrospinal fluid protein increase", "cerebrospinal fluid protein increased", "cerebrospinal fluid with increased protein", "elevate cerebrospinal fluid protein", "elevated cerebrospinal fluid protein", "elevate csf protein", "elevated csf protein", "hyperproteinorrhachia", "increase protein in csf", "increased protein in csf", "spinal fluid protein elevate", "spinal fluid protein elevated" ], "HP:0002923": [ "rheumatoid factor positive" ], "HP:0002924": [ "obsolete decrease circulate aldosterone level", "obsolete decreased circulating aldosterone level", "decrease circulate aldosterone level", "decreased circulating aldosterone level", "decrease aldosterone", "decreased aldosterone", "decrease aldosterone production", "decreased aldosterone production", "decrease serum aldosterone", "decreased serum aldosterone", "hypoaldosteronism", "low blood aldosterone level", "mineralocorticoid insufficiency" ], "HP:0002925": [ "elevate circulate thyroid - stimulate hormone concentration", "elevated circulating thyroid - stimulating hormone concentration", "elevate thyroid stimulate hormone", "elevated thyroid stimulating hormone", "elevate thyroid stimulate hormone level", "elevated thyroid stimulating hormone levels", "high tsh", "increase serum thyroid - stimulating hormone", "increased serum thyroid - stimulating hormone", "increase thyroid - stimulate hormone", "increased thyroid - stimulating hormone", "increase thyroid - stimulate hormone level", "increased thyroid - stimulating hormone level", "increase thyrotropin level", "increased thyrotropin level", "thyroid - stimulate hormone excess", "thyroid - stimulating hormone excess", "tsh excess" ], "HP:0002926": [ "abnormality of thyroid physiology", "abnormal thyroid function" ], "HP:0002927": [ "histidinuria", "elevate histidine in urine", "elevated histidine in urine", "high urine histidine level", "high urine histidine levels", "obsolete abnormality of histidine metabolism" ], "HP:0010905": [ "histidinuria", "elevate histidine in urine", "elevated histidine in urine", "high urine histidine level", "high urine histidine levels", "obsolete abnormality of histidine metabolism" ], "HP:0002928": [ "decreased activity of the pyruvate dehydrogenase complex", "decreased activity of the pdh complex", "pyruvate dehydrogenase complex deficiency" ], "HP:0002929": [ "leydig cell insensitivity to gonadotropin" ], "HP:0002930": [ "impaired sensitivity to thyroid hormone", "elevate serum level of free thyroid hormone with nonsuppressed tsh", "elevated serum levels of free thyroid hormone with nonsuppressed tsh", "end - organ unresponsiveness to thyroid hormone", "resistance to thyroid hormone", "thyroid hormone receptor defect", "thyroid hormone resistance" ], "HP:0008215": [ "impaired sensitivity to thyroid hormone", "elevate serum level of free thyroid hormone with nonsuppressed tsh", "elevated serum levels of free thyroid hormone with nonsuppressed tsh", "end - organ unresponsiveness to thyroid hormone", "resistance to thyroid hormone", "thyroid hormone receptor defect", "thyroid hormone resistance" ], "HP:0008243": [ "impaired sensitivity to thyroid hormone", "elevate serum level of free thyroid hormone with nonsuppressed tsh", "elevated serum levels of free thyroid hormone with nonsuppressed tsh", "end - organ unresponsiveness to thyroid hormone", "resistance to thyroid hormone", "thyroid hormone receptor defect", "thyroid hormone resistance" ], "HP:0008262": [ "impaired sensitivity to thyroid hormone", "elevate serum level of free thyroid hormone with nonsuppressed tsh", "elevated serum levels of free thyroid hormone with nonsuppressed tsh", "end - organ unresponsiveness to thyroid hormone", "resistance to thyroid hormone", "thyroid hormone receptor defect", "thyroid hormone resistance" ], "HP:0002932": [ "aldehyde oxidase deficiency" ], "HP:0002933": [ "ventral hernia" ], "HP:0002936": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0003476": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0006843": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0006845": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0006922": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0006971": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0006993": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0007138": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0007292": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0007296": [ "distal sensory impairment", "decrease distal sensation", "decreased distal sensation", "decrease sensation in extremity", "decreased sensation in extremities", "distal sensation loss", "distal sensory impairment in low limb", "distal sensory impairment in lower limbs", "distal sensory impairment of the low extremity", "distal sensory impairment of the lower extremities", "distal sensory loss", "distal sensory loss , upper and low limb", "distal sensory loss , upper and lower limbs", "loss of distal sensation" ], "HP:0002937": [ "hemivertebrae", "hemi - vertebra", "hemi - vertebrae", "hemivertebra", "miss part of vertebra", "missing part of vertebrae" ], "HP:0002938": [ "lumbar hyperlordosis", "exaggerated lumbar lordosis", "excessive inward curvature of low spine", "excessive inward curvature of lower spine", "increase lumbar lordosis", "increased lumbar lordosis", "lumbar lordosis", "prominent lumbar lordosis" ], "HP:0002941": [ "lumbar hyperlordosis", "exaggerated lumbar lordosis", "excessive inward curvature of low spine", "excessive inward curvature of lower spine", "increase lumbar lordosis", "increased lumbar lordosis", "lumbar lordosis", "prominent lumbar lordosis" ], "HP:0004560": [ "lumbar hyperlordosis", "exaggerated lumbar lordosis", "excessive inward curvature of low spine", "excessive inward curvature of lower spine", "increase lumbar lordosis", "increased lumbar lordosis", "lumbar lordosis", "prominent lumbar lordosis" ], "HP:0004574": [ "lumbar hyperlordosis", "exaggerated lumbar lordosis", "excessive inward curvature of low spine", "excessive inward curvature of lower spine", "increase lumbar lordosis", "increased lumbar lordosis", "lumbar lordosis", "prominent lumbar lordosis" ], "HP:0004596": [ "lumbar hyperlordosis", "exaggerated lumbar lordosis", "excessive inward curvature of low spine", "excessive inward curvature of lower spine", "increase lumbar lordosis", "increased lumbar lordosis", "lumbar lordosis", "prominent lumbar lordosis" ], "HP:0002942": [ "thoracic kyphosis", "accentuate thoracic kyphosis", "accentuated thoracic kyphosis", "exaggerated thoracic kyphosis" ], "HP:0002943": [ "thoracic scoliosis" ], "HP:0004615": [ "thoracic scoliosis" ], "HP:0002944": [ "thoracolumbar scoliosis", "scoliosis , thoracolumbar" ], "HP:0004567": [ "thoracolumbar scoliosis", "scoliosis , thoracolumbar" ], "HP:0004585": [ "thoracolumbar scoliosis", "scoliosis , thoracolumbar" ], "HP:0002945": [ "intervertebral space narrowing", "narrow intervertebral disc space", "narrow intervertebral disc spaces", "narrow intervertebral space", "narrow intervertebral spaces" ], "HP:0002946": [ "supernumerary vertebra", "supernumerary vertebrae" ], "HP:0002947": [ "cervical kyphosis", "round neck", "rounded neck" ], "HP:0002948": [ "vertebral fusion", "fuse vertebra", "fused vertebrae", "fusion of vertebral body", "fusion of vertebral bodies", "spinal fusion", "vertebral body fusion" ], "HP:0002807": [ "vertebral fusion", "fuse vertebra", "fused vertebrae", "fusion of vertebral body", "fusion of vertebral bodies", "spinal fusion", "vertebral body fusion" ], "HP:0008471": [ "vertebral fusion", "fuse vertebra", "fused vertebrae", "fusion of vertebral body", "fusion of vertebral bodies", "spinal fusion", "vertebral body fusion" ], "HP:0008485": [ "vertebral fusion", "fuse vertebra", "fused vertebrae", "fusion of vertebral body", "fusion of vertebral bodies", "spinal fusion", "vertebral body fusion" ], "HP:0002949": [ "fused cervical vertebra", "fused cervical vertebrae", "cervical spine fusion", "cervical vertebral fusion", "fuse neck", "fused neck", "fusion of cervical vertebra", "fusion of cervical vertebrae" ], "HP:0002951": [ "partial absence of cerebellar vermis" ], "HP:0002953": [ "vertebral compression fracture", "compression fracture of a vertebral body", "fracture of vertebral body", "fractures of vertebral bodies", "vertebral body compression", "vertebral collapse", "vertebral compression", "vertebral compression fractures", "vertebral compression or collapse" ], "HP:0002955": [ "granulomatosis" ], "HP:0002958": [ "immune dysregulation", "unregulated immune response" ], "HP:0002959": [ "impaired ig class switch recombination", "impaired b - lymphocyte isotype switching" ], "HP:0002960": [ "autoimmunity", "autoimmune condition", "autoimmune disease", "autoimmune disorder" ], "HP:0002961": [ "dysgammaglobulinemia" ], "HP:0002963": [ "abnormal delay hypersensitivity skin test", "abnormal delayed hypersensitivity skin test" ], "HP:0002965": [ "cutaneous anergy", "absence of delayed hypersensitivity skin test", "lack of delayed skin hypersensitivity reaction" ], "HP:0005427": [ "cutaneous anergy", "absence of delayed hypersensitivity skin test", "lack of delayed skin hypersensitivity reaction" ], "HP:0002967": [ "cubitus valgus", "outward turn elbow", "outward turned elbows" ], "HP:0002970": [ "genu varum", "genu vara", "genua vara", "outward bow - leggedness", "outward bow at knee", "outward bowing at knees" ], "HP:0003052": [ "genu varum", "genu vara", "genua vara", "outward bow - leggedness", "outward bow at knee", "outward bowing at knees" ], "HP:0002971": [ "absent microvilli on the surface of peripheral blood lymphocyte", "absent microvilli on the surface of peripheral blood lymphocytes" ], "HP:0002972": [ "reduce delayed hypersensitivity", "reduced delayed hypersensitivity", "decrease reactivity to skin test antigen", "decreased reactivity to skin test antigens", "deficiency of delayed skin hypersensitivity", "impaired delay hypersensitivity", "impaired delayed hypersensitivity" ], "HP:0005434": [ "reduce delayed hypersensitivity", "reduced delayed hypersensitivity", "decrease reactivity to skin test antigen", "decreased reactivity to skin test antigens", "deficiency of delayed skin hypersensitivity", "impaired delay hypersensitivity", "impaired delayed hypersensitivity" ], "HP:0002973": [ "abnormality of the forearm" ], "HP:0002974": [ "radioulnar synostosis", "fuse forearm bone", "fused forearm bones" ], "HP:0003962": [ "radioulnar synostosis", "fuse forearm bone", "fused forearm bones" ], "HP:0002977": [ "aplasia / hypoplasia involve the central nervous system", "aplasia / hypoplasia involving the central nervous system", "absent / underdeveloped central nervous system tissue", "aplasia / hypoplasia involve the cns", "aplasia / hypoplasia involving the cns" ], "HP:0001323": [ "aplasia / hypoplasia involve the central nervous system", "aplasia / hypoplasia involving the central nervous system", "absent / underdeveloped central nervous system tissue", "aplasia / hypoplasia involve the cns", "aplasia / hypoplasia involving the cns" ], "HP:0002979": [ "bowing of the leg", "bowing of the legs", "bow leg", "bow legs", "bow - leggedness", "bowed legs", "bow low limb", "bowed lower limbs" ], "HP:0006428": [ "bowing of the leg", "bowing of the legs", "bow leg", "bow legs", "bow - leggedness", "bowed legs", "bow low limb", "bowed lower limbs" ], "HP:0002980": [ "femoral bowing", "bow femur", "bowed femur", "bow femura", "bowed femura", "bowed femurs", "bow thighbone", "bowed thighbone" ], "HP:0004998": [ "femoral bowing", "bow femur", "bowed femur", "bow femura", "bowed femura", "bowed femurs", "bow thighbone", "bowed thighbone" ], "HP:0002981": [ "abnormality of the calf" ], "HP:0002982": [ "tibial bowing", "bow shankbone", "bowed shankbone", "bow shinbone", "bowed shinbone", "bow tibia", "bowed tibia", "bowing of the tibia" ], "HP:0006363": [ "tibial bowing", "bow shankbone", "bowed shankbone", "bow shinbone", "bowed shinbone", "bow tibia", "bowed tibia", "bowing of the tibia" ], "HP:0002983": [ "micromelia", "small or short than typical limb", "smaller or shorter than typical limbs" ], "HP:0003030": [ "micromelia", "small or short than typical limb", "smaller or shorter than typical limbs" ], "HP:0005753": [ "micromelia", "small or short than typical limb", "smaller or shorter than typical limbs" ], "HP:0002984": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0002995": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0004989": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0005014": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0005081": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0005714": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0006418": [ "hypoplasia of the radius", "hypoplastic radius", "hypoplastic radii", "radial hypoplasia", "radial ray hypoplasia", "short radius", "short radii", "shortening of radius", "underdeveloped out large forearm bone", "underdeveloped outer large forearm bone" ], "HP:0002986": [ "radial bowing", "bow radius", "bowed radii", "bowed radius", "bowing of out large bone of the forearm", "bowing of outer large bone of the forearm", "bowing of radius bone of the forearm" ], "HP:0004996": [ "radial bowing", "bow radius", "bowed radii", "bowed radius", "bowing of out large bone of the forearm", "bowing of outer large bone of the forearm", "bowing of radius bone of the forearm" ], "HP:0002987": [ "elbow flexion contracture", "contracture of elbow joint", "contracture of elbow", "contractures of elbows", "contracture of the elbow", "contractures of the elbows", "elbow contracture", "elbow contractures", "elbow flexion contractures", "elbow flexion deformity", "fix flexion at the elbow joint", "fixed flexion at the elbow joint" ], "HP:0003937": [ "elbow flexion contracture", "contracture of elbow joint", "contracture of elbow", "contractures of elbows", "contracture of the elbow", "contractures of the elbows", "elbow contracture", "elbow contractures", "elbow flexion contractures", "elbow flexion deformity", "fix flexion at the elbow joint", "fixed flexion at the elbow joint" ], "HP:0004984": [ "elbow flexion contracture", "contracture of elbow joint", "contracture of elbow", "contractures of elbows", "contracture of the elbow", "contractures of the elbows", "elbow contracture", "elbow contractures", "elbow flexion contractures", "elbow flexion deformity", "fix flexion at the elbow joint", "fixed flexion at the elbow joint" ], "HP:0005654": [ "elbow flexion contracture", "contracture of elbow joint", "contracture of elbow", "contractures of elbows", "contracture of the elbow", "contractures of the elbows", "elbow contracture", "elbow contractures", "elbow flexion contractures", "elbow flexion deformity", "fix flexion at the elbow joint", "fixed flexion at the elbow joint" ], "HP:0002990": [ "fibular aplasia", "absent calf bone", "absent fibula", "absent fibulae", "absent - hypoplastic fibula", "absent - hypoplastic fibulae" ], "HP:0006373": [ "fibular aplasia", "absent calf bone", "absent fibula", "absent fibulae", "absent - hypoplastic fibula", "absent - hypoplastic fibulae" ], "HP:0002991": [ "abnormality of fibula morphology", "abnormality of the calf bone" ], "HP:0002992": [ "abnormality of tibia morphology", "abnormality of the shankbone", "abnormality of the shinbone" ], "HP:0002996": [ "limited elbow movement", "decrease elbow mobility", "decreased elbow mobility", "limited elbow mobility", "restrict elbow motion", "restricted elbow motion" ], "HP:0006395": [ "limited elbow movement", "decrease elbow mobility", "decreased elbow mobility", "limited elbow mobility", "restrict elbow motion", "restricted elbow motion" ], "HP:0002997": [ "abnormality of the ulna" ], "HP:0002999": [ "patellar dislocation", "dislocate kneecap", "dislocated kneecap", "dislocate patella", "dislocated patellae", "dislocation of patella" ], "HP:0003001": [ "glomus jugular tumor", "glomus jugular tumour", "glomus jugulare tumor", "glomus jugulare tumors", "glomus jugulare tumour", "glomus jugulare tumours" ], "HP:0003002": [ "breast carcinoma", "breast cancer" ], "HP:0003003": [ "colon cancer" ], "HP:0006718": [ "colon cancer" ], "HP:0003005": [ "ganglioneuroma" ], "HP:0003006": [ "neuroblastoma", "cancer of early nerve cell", "cancer of early nerve cells" ], "HP:0006738": [ "neuroblastoma", "cancer of early nerve cell", "cancer of early nerve cells" ], "HP:0003009": [ "enhanced neurotoxicity of vincristine" ], "HP:0003010": [ "prolong bleeding time", "prolonged bleeding time", "increase bleeding time", "increased bleeding time" ], "HP:0008294": [ "prolong bleeding time", "prolonged bleeding time", "increase bleeding time", "increased bleeding time" ], "HP:0008337": [ "prolong bleeding time", "prolonged bleeding time", "increase bleeding time", "increased bleeding time" ], "HP:0003011": [ "abnormality of the musculature", "muscular abnormality", "obsolete abnormality of skeletal muscle", "obsolete abnormality of skeletal muscles" ], "HP:0003197": [ "abnormality of the musculature", "muscular abnormality", "obsolete abnormality of skeletal muscle", "obsolete abnormality of skeletal muscles" ], "HP:0003708": [ "abnormality of the musculature", "muscular abnormality", "obsolete abnormality of skeletal muscle", "obsolete abnormality of skeletal muscles" ], "HP:0040290": [ "abnormality of the musculature", "muscular abnormality", "obsolete abnormality of skeletal muscle", "obsolete abnormality of skeletal muscles" ], "HP:0003013": [ "bulging epiphysis", "bulging epiphyses", "bulge end part of bone", "bulging end part of bone" ], "HP:0003015": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0000945": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0003047": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0004994": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0005015": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0005095": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0200002": [ "flare metaphysis", "flared metaphysis", "flare wide portion of long bone", "flared wide portion of long bone", "flare , widen metaphyses", "flared , widened metaphyses", "mark metaphyseal flaring of long bone", "marked metaphyseal flaring of long bones", "metaphyseal flaring", "metaphyseal flaring of long bone", "metaphyseal flaring of long bones", "metaphyseal splay", "metaphyseal splaying", "metaphyses flare", "metaphyses flared", "splay metaphyses", "splayed metaphyses" ], "HP:0003016": [ "metaphyseal widening", "broad wide portion of long bone", "wide metaphyses", "widen long bone metaphyses", "widened long bone metaphyses", "widen metaphyses", "widened metaphyses" ], "HP:0005074": [ "metaphyseal widening", "broad wide portion of long bone", "wide metaphyses", "widen long bone metaphyses", "widened long bone metaphyses", "widen metaphyses", "widened metaphyses" ], "HP:0003019": [ "abnormality of the wrist", "abnormalities of the wrists" ], "HP:0001224": [ "abnormality of the wrist", "abnormalities of the wrists" ], "HP:0003020": [ "enlargement of the wrist", "enlargement of the wrists" ], "HP:0003021": [ "metaphyseal cup", "metaphyseal cupping" ], "HP:0003022": [ "hypoplasia of the ulna", "hypoplastic ulna", "short ulna", "short ulnae", "ulnar hypoplasia", "underdeveloped inner large forearm bone", "underdeveloped ulna" ], "HP:0002998": [ "hypoplasia of the ulna", "hypoplastic ulna", "short ulna", "short ulnae", "ulnar hypoplasia", "underdeveloped inner large forearm bone", "underdeveloped ulna" ], "HP:0005842": [ "hypoplasia of the ulna", "hypoplastic ulna", "short ulna", "short ulnae", "ulnar hypoplasia", "underdeveloped inner large forearm bone", "underdeveloped ulna" ], "HP:0006388": [ "hypoplasia of the ulna", "hypoplastic ulna", "short ulna", "short ulnae", "ulnar hypoplasia", "underdeveloped inner large forearm bone", "underdeveloped ulna" ], "HP:0006444": [ "hypoplasia of the ulna", "hypoplastic ulna", "short ulna", "short ulnae", "ulnar hypoplasia", "underdeveloped inner large forearm bone", "underdeveloped ulna" ], "HP:0003023": [ "bowing of limb due to multiple fracture", "bowing of limbs due to multiple fractures", "bow limb due to multiple fracture", "bowed limbs due to multiple fractures" ], "HP:0003025": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0003017": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0004995": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005016": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005032": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005038": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005058": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005062": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005065": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005078": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0005896": [ "metaphyseal irregularity", "fray , irregular metaphyses", "frayed , irregular metaphyses", "fray , irregular , metaphyses", "frayed , irregular , metaphyses", "irregular metaphyses", "irregular wide portion of a long bone", "metaphyseal fraying", "metaphyseal irregularities" ], "HP:0003026": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0000949": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0004983": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0004988": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005000": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005029": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005044": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005052": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005077": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005083": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005647": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0005822": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0006382": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0006457": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0006472": [ "short long bone", "long bone shortening", "short tubular bone", "short tubular bones", "shorten long tubular bone", "shortened long tubular bones" ], "HP:0003027": [ "mesomelia", "disproportionately short middle portion of limb", "mesomelic limb shorten", "mesomelic limb shortening", "mesomelic shortening of limb", "mesomelic shortening of limbs", "symmetric mesomelic limb shortness" ], "HP:0003028": [ "abnormality of the ankle", "abnormality of the ankles" ], "HP:0003029": [ "enlargement of the ankle", "enlargement of the ankles" ], "HP:0003031": [ "ulnar bowing", "bow ulna", "bowed ulna", "curve ulna", "curved ulna", "curving of inner forearm bone" ], "HP:0003983": [ "ulnar bowing", "bow ulna", "bowed ulna", "curve ulna", "curved ulna", "curving of inner forearm bone" ], "HP:0003034": [ "diaphyseal sclerosis", "craniodiaphyseal osteosclerosis", "diaphyseal osteosclerosis", "increase bone density in shaft of long bone", "increased bone density in shaft of long bone" ], "HP:0005611": [ "diaphyseal sclerosis", "craniodiaphyseal osteosclerosis", "diaphyseal osteosclerosis", "increase bone density in shaft of long bone", "increased bone density in shaft of long bone" ], "HP:0003037": [ "enlarged joint", "enlarged joints", "prominent joint", "prominent joints" ], "HP:0003038": [ "fibular hypoplasia", "hypoplastic fibula", "short calf bone", "short fibula", "short fibulae" ], "HP:0002985": [ "fibular hypoplasia", "hypoplastic fibula", "short calf bone", "short fibula", "short fibulae" ], "HP:0005887": [ "fibular hypoplasia", "hypoplastic fibula", "short calf bone", "short fibula", "short fibulae" ], "HP:0006401": [ "fibular hypoplasia", "hypoplastic fibula", "short calf bone", "short fibula", "short fibulae" ], "HP:0003040": [ "arthropathy", "disease of the joint", "disease of the joints" ], "HP:0003041": [ "humeroradial synostosis", "fusion of upper and low arm bone", "fusion of upper and lower arm bones", "humeral radial synostosis", "humeral - radial synostosis", "radiohumeral synostosis of elbow", "synostosis of radius and humerus" ], "HP:0003936": [ "humeroradial synostosis", "fusion of upper and low arm bone", "fusion of upper and lower arm bones", "humeral radial synostosis", "humeral - radial synostosis", "radiohumeral synostosis of elbow", "synostosis of radius and humerus" ], "HP:0003042": [ "elbow dislocation", "dislocation of the elbow", "dislocations of the elbows", "elbow dislocations", "radiocapitellar dislocation", "radiohumeral dislocation", "ulnohumeral dislocation" ], "HP:0006411": [ "elbow dislocation", "dislocation of the elbow", "dislocations of the elbows", "elbow dislocations", "radiocapitellar dislocation", "radiohumeral dislocation", "ulnohumeral dislocation" ], "HP:0003043": [ "abnormal shoulder morphology", "abnormality of the shoulder" ], "HP:0003044": [ "shoulder flexion contracture" ], "HP:0003045": [ "abnormal patella morphology", "abnormal kneecap", "abnormality of the patella", "patellar abnormality" ], "HP:0003048": [ "radial head subluxation", "radial subluxation", "radial - head subluxation" ], "HP:0003049": [ "ulnar deviation of the wrist", "ulnar deviation of wrist", "ulnar deviation of wrists" ], "HP:0003051": [ "enlarge metaphyses", "enlarged metaphyses", "enlarge wide portion of a long bone", "enlarged wide portion of a long bone" ], "HP:0005018": [ "enlarge metaphyses", "enlarged metaphyses", "enlarge wide portion of a long bone", "enlarged wide portion of a long bone" ], "HP:0003053": [ "epiphyseal deformity of tubular bone", "epiphyseal deformities of tubular bones" ], "HP:0003057": [ "tetraamelia", "tetra - amelia" ], "HP:0003059": [ "abnormality of the radioulnar joint", "abnormality of the radioulnar joints" ], "HP:0003063": [ "abnormality of the humerus", "abnormality of the humeri" ], "HP:0002988": [ "abnormality of the humerus", "abnormality of the humeri" ], "HP:0003065": [ "patellar hypoplasia", "hypoplastic patella", "hypoplastic patellae", "small kneecap", "small patella", "small patellae", "underdeveloped kneecap" ], "HP:0005020": [ "patellar hypoplasia", "hypoplastic patella", "hypoplastic patellae", "small kneecap", "small patella", "small patellae", "underdeveloped kneecap" ], "HP:0003066": [ "limited knee extension" ], "HP:0003067": [ "madelung deformity", "madelung wrist deformity" ], "HP:0003068": [ "madelung - like forearm deformity", "madelung - like forearm deformities" ], "HP:0003070": [ "elbow ankylosis" ], "HP:0003071": [ "flatten epiphysis", "flattened epiphysis", "flat end part of bone", "flat epiphysis", "flat epiphyses" ], "HP:0004982": [ "flatten epiphysis", "flattened epiphysis", "flat end part of bone", "flat epiphysis", "flat epiphyses" ], "HP:0005051": [ "flatten epiphysis", "flattened epiphysis", "flat end part of bone", "flat epiphysis", "flat epiphyses" ], "HP:0005076": [ "flatten epiphysis", "flattened epiphysis", "flat end part of bone", "flat epiphysis", "flat epiphyses" ], "HP:0005080": [ "flatten epiphysis", "flattened epiphysis", "flat end part of bone", "flat epiphysis", "flat epiphyses" ], "HP:0003072": [ "hypercalcemia", "high blood calcium level", "high blood calcium levels", "hypercalcaemia", "increased calcium in blood" ], "HP:0003073": [ "hypoalbuminemia", "hypoalbuminaemia", "low albumin", "low blood albumin" ], "HP:0003074": [ "hyperglycemia", "high blood glucose", "high blood sugar" ], "HP:0003075": [ "hypoproteinemia", "decrease protein level in blood", "decreased protein levels in blood" ], "HP:0003076": [ "glycosuria", "glucose in urine", "glucosuria", "abnormality of urine glucose concentration" ], "HP:0003122": [ "glycosuria", "glucose in urine", "glucosuria", "abnormality of urine glucose concentration" ], "HP:0011016": [ "glycosuria", "glucose in urine", "glucosuria", "abnormality of urine glucose concentration" ], "HP:0003077": [ "hyperlipidemia", "elevated lipid in blood", "elevated lipids in blood", "obsolete combine hyperlipidemia", "obsolete combined hyperlipidemia" ], "HP:0008159": [ "hyperlipidemia", "elevated lipid in blood", "elevated lipids in blood", "obsolete combine hyperlipidemia", "obsolete combined hyperlipidemia" ], "HP:0008356": [ "hyperlipidemia", "elevated lipid in blood", "elevated lipids in blood", "obsolete combine hyperlipidemia", "obsolete combined hyperlipidemia" ], "HP:0003079": [ "defective dna repair after ultraviolet radiation damage" ], "HP:0003080": [ "hydroxyprolinuria", "elevate urinary hydroxyproline", "elevated urinary hydroxyproline" ], "HP:0003081": [ "increase urinary potassium", "increased urinary potassium", "hyperkaliuresis", "increase urinary k", "increased urinary k" ], "HP:0003083": [ "dislocate radial head", "dislocated radial head", "congenital radial head dislocation", "dislocated radial heads", "dislocate radius", "dislocated radius", "dislocation of radial head", "dislocation of the radial head", "radial dislocation", "radial head dislocation", "radial head dislocation / subluxation" ], "HP:0002975": [ "dislocate radial head", "dislocated radial head", "congenital radial head dislocation", "dislocated radial heads", "dislocate radius", "dislocated radius", "dislocation of radial head", "dislocation of the radial head", "radial dislocation", "radial head dislocation", "radial head dislocation / subluxation" ], "HP:0005673": [ "dislocate radial head", "dislocated radial head", "congenital radial head dislocation", "dislocated radial heads", "dislocate radius", "dislocated radius", "dislocation of radial head", "dislocation of the radial head", "radial dislocation", "radial head dislocation", "radial head dislocation / subluxation" ], "HP:0005836": [ "dislocate radial head", "dislocated radial head", "congenital radial head dislocation", "dislocated radial heads", "dislocate radius", "dislocated radius", "dislocation of radial head", "dislocation of the radial head", "radial dislocation", "radial head dislocation", "radial head dislocation / subluxation" ], "HP:0003084": [ "fracture of the long bone", "fractures of the long bones", "increase long bone fracture rate", "increased long bone fracture rate" ], "HP:0005847": [ "fracture of the long bone", "fractures of the long bones", "increase long bone fracture rate", "increased long bone fracture rate" ], "HP:0003085": [ "long fibula", "disproportionately long fibula", "long calf bone" ], "HP:0003086": [ "acromesomelia" ], "HP:0003088": [ "premature osteoarthritis", "premature arthritis" ], "HP:0003089": [ "hamstring contracture", "hamstring contractures" ], "HP:0003090": [ "hypoplasia of the capital femoral epiphysis", "small capital femoral epiphysis", "small capital femoral epiphyses", "small femoral capital epiphysis", "small femoral capital epiphyses", "small innermost thighbone end part", "small proximal femoral epiphysis", "small proximal femoral epiphyses", "underdevelopment of the innermost thighbone end part" ], "HP:0003374": [ "hypoplasia of the capital femoral epiphysis", "small capital femoral epiphysis", "small capital femoral epiphyses", "small femoral capital epiphysis", "small femoral capital epiphyses", "small innermost thighbone end part", "small proximal femoral epiphysis", "small proximal femoral epiphyses", "underdevelopment of the innermost thighbone end part" ], "HP:0008791": [ "hypoplasia of the capital femoral epiphysis", "small capital femoral epiphysis", "small capital femoral epiphyses", "small femoral capital epiphysis", "small femoral capital epiphyses", "small innermost thighbone end part", "small proximal femoral epiphysis", "small proximal femoral epiphyses", "underdevelopment of the innermost thighbone end part" ], "HP:0008792": [ "hypoplasia of the capital femoral epiphysis", "small capital femoral epiphysis", "small capital femoral epiphyses", "small femoral capital epiphysis", "small femoral capital epiphyses", "small innermost thighbone end part", "small proximal femoral epiphysis", "small proximal femoral epiphyses", "underdevelopment of the innermost thighbone end part" ], "HP:0003091": [ "trophic limb change", "trophic limb changes" ], "HP:0003093": [ "limited hip extension", "restrict hip extension", "restricted hip extension" ], "HP:0008810": [ "limited hip extension", "restrict hip extension", "restricted hip extension" ], "HP:0003095": [ "septic arthritis", "infect joint", "infected joint" ], "HP:0003097": [ "short femur", "femoral hypoplasia", "hypoplasia of the femur", "hypoplasia of the femora", "short femurs", "short thighbone" ], "HP:0009749": [ "short femur", "femoral hypoplasia", "hypoplasia of the femur", "hypoplasia of the femora", "short femurs", "short thighbone" ], "HP:0003099": [ "fibular overgrowth", "overgrowth of calf bone" ], "HP:0003100": [ "slender long bone", "gracile long bone", "gracile long bones", "long bone slender", "long bones slender", "slender long bones", "slender , gracile long tubular bone", "slender , gracile long tubular bones", "thin gracile long bone", "thin gracile long bones", "thin long bone", "thin long bones", "thin , gracile long bone", "thin , gracile long bones" ], "HP:0003060": [ "slender long bone", "gracile long bone", "gracile long bones", "long bone slender", "long bones slender", "slender long bones", "slender , gracile long tubular bone", "slender , gracile long tubular bones", "thin gracile long bone", "thin gracile long bones", "thin long bone", "thin long bones", "thin , gracile long bone", "thin , gracile long bones" ], "HP:0003061": [ "slender long bone", "gracile long bone", "gracile long bones", "long bone slender", "long bones slender", "slender long bones", "slender , gracile long tubular bone", "slender , gracile long tubular bones", "thin gracile long bone", "thin gracile long bones", "thin long bone", "thin long bones", "thin , gracile long bone", "thin , gracile long bones" ], "HP:0003096": [ "slender long bone", "gracile long bone", "gracile long bones", "long bone slender", "long bones slender", "slender long bones", "slender , gracile long tubular bone", "slender , gracile long tubular bones", "thin gracile long bone", "thin gracile long bones", "thin long bone", "thin long bones", "thin , gracile long bone", "thin , gracile long bones" ], "HP:0005064": [ "slender long bone", "gracile long bone", "gracile long bones", "long bone slender", "long bones slender", "slender long bones", "slender , gracile long tubular bone", "slender , gracile long tubular bones", "thin gracile long bone", "thin gracile long bones", "thin long bone", "thin long bones", "thin , gracile long bone", "thin , gracile long bones" ], "HP:0003102": [ "increase carry angle", "increased carrying angle" ], "HP:0003103": [ "abnormal cortical bone morphology", "abnormal compact bone morphology", "abnormality of cortical bone" ], "HP:0003105": [ "protuberance at end of long bone", "protuberances at ends of long bones" ], "HP:0003106": [ "subperiosteal bone resorption", "subperiosteal erosion", "subperiosteal erosions" ], "HP:0003107": [ "abnormal circulate cholesterol concentration", "abnormal circulating cholesterol concentration", "abnormal cholesterol homeostasis", "abnormality of cholesterol metabolism", "obsolete abnormal cholesterol homeostasis" ], "HP:0003464": [ "abnormal circulate cholesterol concentration", "abnormal circulating cholesterol concentration", "abnormal cholesterol homeostasis", "abnormality of cholesterol metabolism", "obsolete abnormal cholesterol homeostasis" ], "HP:0003108": [ "hyperglycinuria", "glycinuria", "high urine glycine level", "high urine glycine levels" ], "HP:0002931": [ "hyperglycinuria", "glycinuria", "high urine glycine level", "high urine glycine levels" ], "HP:0003109": [ "hyperphosphaturia", "high urine phosphate level", "high urine phosphate levels", "phosphaturia" ], "HP:0003266": [ "hyperphosphaturia", "high urine phosphate level", "high urine phosphate levels", "phosphaturia" ], "HP:0003110": [ "abnormality of urine homeostasis", "pee issue", "pee issues", "urine issue", "urine issues" ], "HP:0011865": [ "abnormality of urine homeostasis", "pee issue", "pee issues", "urine issue", "urine issues" ], "HP:0011866": [ "abnormality of urine homeostasis", "pee issue", "pee issues", "urine issue", "urine issues" ], "HP:0003111": [ "abnormal blood ion concentration", "abnormality of ion homeostasis", "electrolyte disorder", "electrolyte disorders", "electrolyte disturbance" ], "HP:0003253": [ "abnormal blood ion concentration", "abnormality of ion homeostasis", "electrolyte disorder", "electrolyte disorders", "electrolyte disturbance" ], "HP:0003112": [ "abnormal circulate amino acid concentration", "abnormal circulating amino acid concentration", "abnormality of serum amino acid level", "abnormality of serum amino acid levels" ], "HP:0003113": [ "hypochloremia", "low blood chloride level", "low blood chloride levels" ], "HP:0003114": [ "obsolete abnormal cardiological finding", "obsolete abnormal cardiological findings" ], "HP:0003115": [ "abnormal ekg", "abnormal ecg", "abnormal electrocardiogram", "ekg abnormality" ], "HP:0003116": [ "abnormal echocardiogram", "abnormal echocardiography" ], "HP:0003117": [ "abnormal circulate hormone concentration", "abnormal circulating hormone concentration", "abnormal circulate hormone level", "abnormal circulating hormone level", "abnormality of circulate hormone level", "abnormality of circulating hormone level" ], "HP:0003118": [ "increase circulate cortisol level", "increased circulating cortisol level", "cushing syndrome", "hypercortisolism", "increase cortisol production", "increased cortisol production" ], "HP:0000850": [ "increase circulate cortisol level", "increased circulating cortisol level", "cushing syndrome", "hypercortisolism", "increase cortisol production", "increased cortisol production" ], "HP:0001578": [ "increase circulate cortisol level", "increased circulating cortisol level", "cushing syndrome", "hypercortisolism", "increase cortisol production", "increased cortisol production" ], "HP:0004316": [ "increase circulate cortisol level", "increased circulating cortisol level", "cushing syndrome", "hypercortisolism", "increase cortisol production", "increased cortisol production" ], "HP:0003119": [ "abnormal circulate lipid concentration", "abnormal circulating lipid concentration", "dyslipidaemia", "dyslipidemia" ], "HP:0003611": [ "abnormal circulate lipid concentration", "abnormal circulating lipid concentration", "dyslipidaemia", "dyslipidemia" ], "HP:0003121": [ "limb joint contracture", "limb contracture", "limb contractures" ], "HP:0005631": [ "limb joint contracture", "limb contracture", "limb contractures" ], "HP:0005839": [ "limb joint contracture", "limb contracture", "limb contractures" ], "HP:0003124": [ "hypercholesterolemia", "elevate serum cholesterol", "elevated serum cholesterol", "elevate total cholesterol", "elevated total cholesterol", "high cholesterol", "increase total cholesterol", "increased total cholesterol" ], "HP:0008154": [ "hypercholesterolemia", "elevate serum cholesterol", "elevated serum cholesterol", "elevate total cholesterol", "elevated total cholesterol", "high cholesterol", "increase total cholesterol", "increased total cholesterol" ], "HP:0008173": [ "hypercholesterolemia", "elevate serum cholesterol", "elevated serum cholesterol", "elevate total cholesterol", "elevated total cholesterol", "high cholesterol", "increase total cholesterol", "increased total cholesterol" ], "HP:0008359": [ "hypercholesterolemia", "elevate serum cholesterol", "elevated serum cholesterol", "elevate total cholesterol", "elevated total cholesterol", "high cholesterol", "increase total cholesterol", "increased total cholesterol" ], "HP:0003125": [ "reduce factor viii activity", "reduced factor viii activity", "factor viii deficiency" ], "HP:0008349": [ "reduce factor viii activity", "reduced factor viii activity", "factor viii deficiency" ], "HP:0008355": [ "reduce factor viii activity", "reduced factor viii activity", "factor viii deficiency" ], "HP:0003126": [ "low - molecular - weight proteinuria", "tubular proteinuria" ], "HP:0003127": [ "hypocalciuria", "low urine calcium level", "low urine calcium levels" ], "HP:0003128": [ "lactic acidosis", "hyperlacticacidemia", "increase lactate in body", "increased lactate in body", "lactic acidemia", "lacticacidemia", "lacticacidosis" ], "HP:0003255": [ "lactic acidosis", "hyperlacticacidemia", "increase lactate in body", "increased lactate in body", "lactic acidemia", "lacticacidemia", "lacticacidosis" ], "HP:0005960": [ "lactic acidosis", "hyperlacticacidemia", "increase lactate in body", "increased lactate in body", "lactic acidemia", "lacticacidemia", "lacticacidosis" ], "HP:0003130": [ "abnormal peripheral myelination" ], "HP:0003408": [ "abnormal peripheral myelination" ], "HP:0003131": [ "cystinuria", "high urine cystine level", "high urine cystine levels" ], "HP:0003133": [ "abnormality of the spinocerebellar tract", "abnormality of the spinocerebellar tracts" ], "HP:0003134": [ "abnormality of peripheral nerve conduction", "abnormal peripheral nerve transmission", "sensory and motor nerve conduction abnormality", "sensory and motor nerve conduction abnormalities" ], "HP:0006832": [ "abnormality of peripheral nerve conduction", "abnormal peripheral nerve transmission", "sensory and motor nerve conduction abnormality", "sensory and motor nerve conduction abnormalities" ], "HP:0007186": [ "abnormality of peripheral nerve conduction", "abnormal peripheral nerve transmission", "sensory and motor nerve conduction abnormality", "sensory and motor nerve conduction abnormalities" ], "HP:0003137": [ "prolinuria" ], "HP:0003138": [ "increase blood urea nitrogen", "increased blood urea nitrogen", "increase bun", "increased bun" ], "HP:0003139": [ "panhypogammaglobulinemia", "panypogammaglobulinemia" ], "HP:0003140": [ "t - wave inversion in the right precordial lead", "t - wave inversion in the right precordial leads" ], "HP:0003141": [ "increase ldl cholesterol concentration", "increased ldl cholesterol concentration", "hyperbetalipoproteinemia", "increase beta - lipoprotein", "increased beta - lipoproteins", "increase circulate ldl level", "increased circulating ldl level", "increase circulate low - density lipoprotein cholesterol", "increased circulating low - density lipoprotein cholesterol", "increase circulate low - density lipoprotein level", "increased circulating low - density lipoprotein levels", "increase ldl cholesterol", "increased ldl cholesterol", "increase ldlc concentration", "increased ldlc concentration", "increase plasma ldl level", "increased plasma ldl levels" ], "HP:0008343": [ "increase ldl cholesterol concentration", "increased ldl cholesterol concentration", "hyperbetalipoproteinemia", "increase beta - lipoprotein", "increased beta - lipoproteins", "increase circulate ldl level", "increased circulating ldl level", "increase circulate low - density lipoprotein cholesterol", "increased circulating low - density lipoprotein cholesterol", "increase circulate low - density lipoprotein level", "increased circulating low - density lipoprotein levels", "increase ldl cholesterol", "increased ldl cholesterol", "increase ldlc concentration", "increased ldlc concentration", "increase plasma ldl level", "increased plasma ldl levels" ], "HP:0003142": [ "excessive purine production" ], "HP:0003144": [ "increase serum serotonin", "increased serum serotonin" ], "HP:0003145": [ "decrease adenosylcobalamin", "decreased adenosylcobalamin", "decrease adocbl", "decreased adocbl" ], "HP:0003146": [ "hypocholesterolemia", "decrease circulate cholesterol level", "decreased circulating cholesterol level" ], "HP:0003148": [ "elevate serum acid phosphatase", "elevated serum acid phosphatase", "acid phosphatase elevate", "acid phosphatase elevated" ], "HP:0003149": [ "hyperuricosuria", "high urine uric acid level" ], "HP:0003150": [ "glutaric aciduria", "glutarate aciduria", "glutaricaciduria", "increase glutarate level in urine", "increased glutarate level in urine", "obsolete defective dehydrogenation of isovaleryl coa and butyryl coa" ], "HP:0003490": [ "glutaric aciduria", "glutarate aciduria", "glutaricaciduria", "increase glutarate level in urine", "increased glutarate level in urine", "obsolete defective dehydrogenation of isovaleryl coa and butyryl coa" ], "HP:0003152": [ "obsolete increase serum 1,25 - dihydroxyvitamin d3", "obsolete increased serum 1,25 - dihydroxyvitamin d3", "high serum calcitriol", "high serum 1,25 - dihydroxycholecalciferol", "high serum 1,25 - dihydroxyvitamin d3", "increase serum 1,25 - dihydroxyvitamin d3", "increased serum 1,25 - dihydroxyvitamin d3", "increase serum calcitriol", "increased serum calcitriol" ], "HP:0003153": [ "cystathioninuria", "high urine cystathionine level", "high urine cystathionine levels" ], "HP:0003154": [ "increase circulate acth level", "increased circulating acth level", "high blood corticotropin level", "high blood corticotropin levels", "increase plasma acth", "increased plasma acth" ], "HP:0003155": [ "elevate circulate alkaline phosphatase concentration", "elevated circulating alkaline phosphatase concentration", "elevate alkaline phosphatase", "elevated alkaline phosphatase", "elevate alp", "elevated alp", "greatly elevate alkaline phosphatase", "greatly elevated alkaline phosphatase", "high serum alkaline phosphatase", "hyperphosphatasemia", "hyperphosphatasia", "increase alkaline phosphatase", "increased alkaline phosphatase", "increase serum alkaline phosphatase", "increased serum alkaline phosphatase" ], "HP:0002911": [ "elevate circulate alkaline phosphatase concentration", "elevated circulating alkaline phosphatase concentration", "elevate alkaline phosphatase", "elevated alkaline phosphatase", "elevate alp", "elevated alp", "greatly elevate alkaline phosphatase", "greatly elevated alkaline phosphatase", "high serum alkaline phosphatase", "hyperphosphatasemia", "hyperphosphatasia", "increase alkaline phosphatase", "increased alkaline phosphatase", "increase serum alkaline phosphatase", "increased serum alkaline phosphatase" ], "HP:0003636": [ "elevate circulate alkaline phosphatase concentration", "elevated circulating alkaline phosphatase concentration", "elevate alkaline phosphatase", "elevated alkaline phosphatase", "elevate alp", "elevated alp", "greatly elevate alkaline phosphatase", "greatly elevated alkaline phosphatase", "high serum alkaline phosphatase", "hyperphosphatasemia", "hyperphosphatasia", "increase alkaline phosphatase", "increased alkaline phosphatase", "increase serum alkaline phosphatase", "increased serum alkaline phosphatase" ], "HP:0008296": [ "elevate circulate alkaline phosphatase concentration", "elevated circulating alkaline phosphatase concentration", "elevate alkaline phosphatase", "elevated alkaline phosphatase", "elevate alp", "elevated alp", "greatly elevate alkaline phosphatase", "greatly elevated alkaline phosphatase", "high serum alkaline phosphatase", "hyperphosphatasemia", "hyperphosphatasia", "increase alkaline phosphatase", "increased alkaline phosphatase", "increase serum alkaline phosphatase", "increased serum alkaline phosphatase" ], "HP:0003158": [ "hyposthenuria", "reduce urinary osmolality", "reduced urinary osmolality" ], "HP:0003159": [ "hyperoxaluria", "high urine oxalate level", "high urine oxalate levels", "increase level of oxalate in urine", "increased level of oxalate in urine" ], "HP:0003160": [ "abnormal isoelectric focusing of serum transferrin", "abnormal transferrin isoelectric focusing" ], "HP:0003161": [ "4 - hydroxyphenylpyruvic aciduria", "hydroxyphenylpyruvic aciduria" ], "HP:0003162": [ "fast hypoglycemia", "fasting hypoglycemia", "low blood sugar when fasting" ], "HP:0003163": [ "elevate urinary delta - aminolevulinic acid", "elevated urinary delta - aminolevulinic acid" ], "HP:0003164": [ "hypothalamic gonadotropin - release hormone deficiency", "hypothalamic gonadotropin - releasing hormone deficiency", "hypothalamic gnrh deficiency" ], "HP:0003165": [ "elevate circulate parathyroid hormone level", "elevated circulating parathyroid hormone level", "elevate circulate pth level", "elevated circulating pth level", "elevate serum parathyroid hormone", "elevated serum parathyroid hormone", "elevate serum parathyroid hormone level", "elevated serum parathyroid hormone level", "elevate serum pth", "elevated serum pth", "increase serum parathyroid hormone", "increased serum parathyroid hormone" ], "HP:0003166": [ "increase urinary taurine", "increased urinary taurine" ], "HP:0003167": [ "carnosinuria", "high urine carnosine level", "high urine carnosine levels" ], "HP:0003168": [ "dibasicaminoaciduria" ], "HP:0003170": [ "abnormal acetabulum morphology", "abnormality of the acetabulum", "abnormality of the hipbone socket", "acetabular abnormality" ], "HP:0003172": [ "abnormality of the pubic bone", "abnormality of the pubic bones", "abnormality of the pubis" ], "HP:0003173": [ "hypoplastic pubic bone", "hypoplastic pubic bones", "hypoplastic pubis" ], "HP:0003174": [ "abnormality of the ischium", "abnormality of the ischial bone", "abnormality of the ischial bones", "anomaly of the ischium" ], "HP:0003175": [ "hypoplastic ischia", "hypoplastic ischial bone", "hypoplastic ischial bones", "hypoplastic ischii", "hypoplastic ischium" ], "HP:0003177": [ "square iliac bone", "squared iliac bones", "square iliac bones", "squaring of iliac bone", "squaring of iliac bones" ], "HP:0003179": [ "protrusio acetabuli", "abnormally indent hip socket", "abnormally indented hip sockets", "protrusio acetabulae" ], "HP:0003180": [ "flat acetabular roof", "flat acetabular roofs", "flatten acetabular roof", "flattened acetabular roof", "horizontal acetabulae", "horizontal acetabular roof", "horizontal acetabular roofs" ], "HP:0003171": [ "flat acetabular roof", "flat acetabular roofs", "flatten acetabular roof", "flattened acetabular roof", "horizontal acetabulae", "horizontal acetabular roof", "horizontal acetabular roofs" ], "HP:0008832": [ "flat acetabular roof", "flat acetabular roofs", "flatten acetabular roof", "flattened acetabular roof", "horizontal acetabulae", "horizontal acetabular roof", "horizontal acetabular roofs" ], "HP:0008834": [ "flat acetabular roof", "flat acetabular roofs", "flatten acetabular roof", "flattened acetabular roof", "horizontal acetabulae", "horizontal acetabular roof", "horizontal acetabular roofs" ], "HP:0003182": [ "shallow acetabular fossa", "shallow acetabular fossae", "shallow acetabulum", "shallow acetabula", "shallow acetabulae" ], "HP:0003183": [ "wide pubic symphysis", "wide symphysis of pubis" ], "HP:0003184": [ "decrease hip abduction", "decreased hip abduction", "limited hip abduction" ], "HP:0003185": [ "short great sciatic notch", "short greater sciatic notch", "short sacroiliac notch", "shorten sacroiliac notch", "shortened sacroiliac notches", "small sacroiliac notch" ], "HP:0008815": [ "short great sciatic notch", "short greater sciatic notch", "short sacroiliac notch", "shorten sacroiliac notch", "shortened sacroiliac notches", "small sacroiliac notch" ], "HP:0003186": [ "inverted nipple", "inverted nipples", "invaginated nipple", "invaginated nipples" ], "HP:0003187": [ "breast hypoplasia", "underdeveloped breast", "underdeveloped breasts" ], "HP:0000784": [ "breast hypoplasia", "underdeveloped breast", "underdeveloped breasts" ], "HP:0003189": [ "long nose", "elongate nose", "elongated nose", "increase height of nose", "increased height of nose", "increased length of nose", "increase nasal height", "increased nasal height", "increase nasal length", "increased nasal length", "nasal elongation" ], "HP:0005283": [ "long nose", "elongate nose", "elongated nose", "increase height of nose", "increased height of nose", "increased length of nose", "increase nasal height", "increased nasal height", "increase nasal length", "increased nasal length", "nasal elongation" ], "HP:0200142": [ "long nose", "elongate nose", "elongated nose", "increase height of nose", "increased height of nose", "increased length of nose", "increase nasal height", "increased nasal height", "increase nasal length", "increased nasal length", "nasal elongation" ], "HP:0003191": [ "cleft ala nasi", "ala nasi , cleft", "alar cleft", "alar clefts", "cleft nasal ala", "cleft nasal alae", "cleft nostril", "nostril coloboma", "notch nasal ala", "notched nasal alae" ], "HP:0004412": [ "cleft ala nasi", "ala nasi , cleft", "alar cleft", "alar clefts", "cleft nasal ala", "cleft nasal alae", "cleft nostril", "nostril coloboma", "notch nasal ala", "notched nasal alae" ], "HP:0003193": [ "allergic rhinitis", "hay fever", "hayfever", "nasal allergy", "nasal allergies" ], "HP:0003194": [ "short nasal bridge", "decreased length of bridge of nose", "decreased length of nasal bridge", "short bridge of nose" ], "HP:0003196": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0000440": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0000449": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0000450": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0003192": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0003195": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0005270": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0200092": [ "short nose", "decreased length of nose", "hypoplastic nose", "nasal hypoplasia", "shorten nose", "shortened nose", "small nose" ], "HP:0003198": [ "myopathy", "muscle tissue disease", "myopathic change", "myopathic changes" ], "HP:0003569": [ "myopathy", "muscle tissue disease", "myopathic change", "myopathic changes" ], "HP:0003705": [ "myopathy", "muscle tissue disease", "myopathic change", "myopathic changes" ], "HP:0003742": [ "myopathy", "muscle tissue disease", "myopathic change", "myopathic changes" ], "HP:0003802": [ "myopathy", "muscle tissue disease", "myopathic change", "myopathic changes" ], "HP:0003199": [ "decreased muscle mass" ], "HP:0003732": [ "decreased muscle mass" ], "HP:0003200": [ "rag - red muscle fiber", "ragged - red muscle fibers", "mitochondrial proliferation in muscle tissue", "rag red muscle fiber", "ragged red muscle fibers", "rag red muscle fibre", "ragged red muscle fibres", "rag - red fiber", "ragged - red fibers", "rag - red fibre", "ragged - red fibres", "rag - red muscle fibre", "ragged - red muscle fibres" ], "HP:0009076": [ "rag - red muscle fiber", "ragged - red muscle fibers", "mitochondrial proliferation in muscle tissue", "rag red muscle fiber", "ragged red muscle fibers", "rag red muscle fibre", "ragged red muscle fibres", "rag - red fiber", "ragged - red fibers", "rag - red fibre", "ragged - red fibres", "rag - red muscle fibre", "ragged - red muscle fibres" ], "HP:0003201": [ "rhabdomyolysis", "breakdown of skeletal muscle" ], "HP:0003202": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0001299": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0003545": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0003671": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0003702": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0003746": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0006995": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0007171": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0007356": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0009010": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0009048": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0100868": [ "skeletal muscle atrophy", "amyotrophy", "amyotrophy involve the extremity", "amyotrophy involving the extremities", "muscle atrophy", "muscle atrophy , neurogenic", "muscle degeneration", "muscle hypotrophy", "muscle waste", "muscle wasting", "muscular atrophy", "neurogenic muscle atrophy", "neurogenic muscle atrophy , especially in the low limb", "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscular atrophy" ], "HP:0003203": [ "impaired oxidative burst", "negative nbt reduction test", "negative nitroblue tetrazolium reduction test" ], "HP:0003204": [ "intracellular accumulation of autofluorescent lipopigment storage material" ], "HP:0003205": [ "curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "'curvilinear profile ' ultrastructurally", "'curvilinear profiles ' ultrastructurally", "'curvilinear profile ' ultrastructurally in cell", "'curvilinear profiles ' ultrastructurally in cells", "curvilinear profile ultrastructurally", "curvilinear profiles ultrastructurally", "intracellular curvilinear profile on ultrastructural analysis", "intracellular curvilinear profiles on ultrastructural analysis" ], "HP:0003206": [ "decreased activity of nadph oxidase" ], "HP:0003207": [ "arterial calcification", "obsolete large artery calcification" ], "HP:0012455": [ "arterial calcification", "obsolete large artery calcification" ], "HP:0003208": [ "fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "'fingerprint profile ' ultrastructurally in cell", "'fingerprint profiles ' ultrastructurally in cells", "fingerprint profile ultrastructurally", "fingerprint profiles ultrastructurally" ], "HP:0003209": [ "decrease pyruvate carboxylase activity", "decreased pyruvate carboxylase activity" ], "HP:0003210": [ "decrease methylmalonyl - coa mutase activity", "decreased methylmalonyl - coa mutase activity", "decrease methylmalonyl coa mutase activity", "decreased methylmalonyl coa mutase activity" ], "HP:0003212": [ "increase circulate ige level", "increased circulating ige level", "elevate immunoglobulin e", "elevated immunoglobulin e", "elevate serum ige", "elevated serum ige", "high immunoglobulin e" ], "HP:0005382": [ "increase circulate ige level", "increased circulating ige level", "elevate immunoglobulin e", "elevated immunoglobulin e", "elevate serum ige", "elevated serum ige", "high immunoglobulin e" ], "HP:0005418": [ "increase circulate ige level", "increased circulating ige level", "elevate immunoglobulin e", "elevated immunoglobulin e", "elevate serum ige", "elevated serum ige", "high immunoglobulin e" ], "HP:0005433": [ "increase circulate ige level", "increased circulating ige level", "elevate immunoglobulin e", "elevated immunoglobulin e", "elevate serum ige", "elevated serum ige", "high immunoglobulin e" ], "HP:0003213": [ "deficient excision of uv - induced pyrimidine dimer in dna", "deficient excision of uv - induced pyrimidine dimers in dna" ], "HP:0003214": [ "prolonged g2 phase of cell cycle" ], "HP:0003215": [ "dicarboxylic aciduria" ], "HP:0003216": [ "generalize amyloid deposition", "generalized amyloid deposition", "generalise amyloid deposition", "generalised amyloid deposition" ], "HP:0003217": [ "hyperglutaminemia", "high plasma glutamine" ], "HP:0003218": [ "oroticaciduria", "high urine orotic acid level", "high urine orotic acid levels", "increase urinary orotic acid concentration", "increased urinary orotic acid concentration", "orotic aciduria", "obsolete increase urinary orotic acid concentration", "obsolete increased urinary orotic acid concentration" ], "HP:0000810": [ "oroticaciduria", "high urine orotic acid level", "high urine orotic acid levels", "increase urinary orotic acid concentration", "increased urinary orotic acid concentration", "orotic aciduria", "obsolete increase urinary orotic acid concentration", "obsolete increased urinary orotic acid concentration" ], "HP:0010928": [ "oroticaciduria", "high urine orotic acid level", "high urine orotic acid levels", "increase urinary orotic acid concentration", "increased urinary orotic acid concentration", "orotic aciduria", "obsolete increase urinary orotic acid concentration", "obsolete increased urinary orotic acid concentration" ], "HP:0003219": [ "ethylmalonic aciduria" ], "HP:0003220": [ "abnormality of chromosome stability" ], "HP:0002915": [ "abnormality of chromosome stability" ], "HP:0008307": [ "abnormality of chromosome stability" ], "HP:0003221": [ "chromosomal breakage induce by crosslinking agent", "chromosomal breakage induced by crosslinking agents", "chromosomal breakage induce by diepoxybutane", "chromosomal breakage induced by diepoxybutane", "chromosomal breakage induce by mitomycin c", "chromosomal breakage induced by mitomycin c" ], "HP:0003223": [ "decrease methylcobalamin", "decreased methylcobalamin", "methylcobalamin deficiency" ], "HP:0008287": [ "decrease methylcobalamin", "decreased methylcobalamin", "methylcobalamin deficiency" ], "HP:0003224": [ "increase cellular sensitivity to uv light", "increased cellular sensitivity to uv light" ], "HP:0003225": [ "reduce coagulation factor v activity", "reduced coagulation factor v activity", "factor v deficiency", "reduce factor v activity", "reduced factor v activity" ], "HP:0003226": [ "rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "rectilinear profile ultrastructurally", "rectilinear profiles ultrastructurally" ], "HP:0003228": [ "hypernatremia", "high blood sodium level", "high blood sodium levels" ], "HP:0003231": [ "hypertyrosinemia", "increase tyrosine in blood", "increased tyrosine in blood", "tyrosinemia" ], "HP:0003232": [ "mitochondrial malic enzyme reduce", "mitochondrial malic enzyme reduced", "decrease mitochondrial malic enzyme", "decreased mitochondrial malic enzyme" ], "HP:0003233": [ "decrease hdl cholesterol concentration", "decreased hdl cholesterol concentration", "decrease circulate high - density lipoprotein cholesterol", "decreased circulating high - density lipoprotein cholesterol", "decrease circulate high - density lipoprotein level", "decreased circulating high - density lipoprotein levels", "decrease hdl cholesterol", "decreased hdl cholesterol", "hypoalphalipoproteinemia", "low hdl - cholesterol" ], "HP:0003234": [ "decrease plasma carnitine", "decreased plasma carnitine", "carnitine deficiency" ], "HP:0003235": [ "hypermethioninemia", "increase methionine in blood", "increased methionine in blood", "methioninemia" ], "HP:0003236": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0002147": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0002906": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0003078": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0003525": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0003531": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0008164": [ "elevate circulate creatine kinase concentration", "elevated circulating creatine kinase concentration", "elevate blood creatine phosphokinase", "elevated blood creatine phosphokinase", "elevate circulate creatine phosphokinase", "elevated circulating creatine phosphokinase", "elevate creatine kinase", "elevated creatine kinase", "elevate serum cpk", "elevated serum cpk", "elevate serum creatine kinase", "elevated serum creatine kinase", "elevate serum creatine phosphokinase", "elevated serum creatine phosphokinase", "high serum creatine kinase", "increase cpk", "increased cpk", "increase creatine kinase", "increased creatine kinase", "increase creatine phosphokinase", "increased creatine phosphokinase", "increase serum ck", "increased serum ck", "increase serum creatine kinase", "increased serum creatine kinase", "increase serum creatine phosphokinase", "increased serum creatine phosphokinase" ], "HP:0003237": [ "increase circulate igg level", "increased circulating igg level", "increase igg level", "increased igg level", "increased level of igg", "increased levels of igg", "increase total igg in blood", "increased total igg in blood" ], "HP:0003238": [ "hyperpepsinogenemia i" ], "HP:0003239": [ "phosphoethanolaminuria", "high urine phosphoethanolamine level", "high urine phosphoethanolamine levels" ], "HP:0003240": [ "increase phosphoribosylpyrophosphate synthetase level", "increased phosphoribosylpyrophosphate synthetase level", "increase phosphoribosyl pyrophosphate synthetase activity", "increased phosphoribosyl pyrophosphate synthetase activity", "increase prps1 activity", "increased prps1 activity" ], "HP:0003241": [ "external genital hypoplasia", "hypogenitalism", "small genitalia", "underdevelopment of external reproductive organ", "underdevelopment of external reproductive organs" ], "HP:0000788": [ "external genital hypoplasia", "hypogenitalism", "small genitalia", "underdevelopment of external reproductive organ", "underdevelopment of external reproductive organs" ], "HP:0003245": [ "external genital hypoplasia", "hypogenitalism", "small genitalia", "underdevelopment of external reproductive organ", "underdevelopment of external reproductive organs" ], "HP:0003244": [ "penile hypospadias" ], "HP:0003246": [ "prominent scrotal raphe", "prominent perineal raphe" ], "HP:0003247": [ "overgrowth of external genitalia" ], "HP:0003248": [ "gonadal tissue inappropriate for external genitalia or chromosomal sex" ], "HP:0003249": [ "genital ulcer", "genital ulcers" ], "HP:0003250": [ "aplasia of the vagina", "absent vagina", "congenital absence of the vagina" ], "HP:0008709": [ "aplasia of the vagina", "absent vagina", "congenital absence of the vagina" ], "HP:0003251": [ "male infertility" ], "HP:0003252": [ "anteriorly displace genitalia", "anteriorly displaced genitalia" ], "HP:0003254": [ "abnormality of dna repair" ], "HP:0003256": [ "abnormality of the coagulation cascade", "coagulopathy" ], "HP:0001925": [ "abnormality of the coagulation cascade", "coagulopathy" ], "HP:0003258": [ "glyoxalase deficiency" ], "HP:0003259": [ "elevate circulate creatinine concentration", "elevated circulating creatinine concentration", "elevate creatinine", "elevated creatinine", "elevate serum creatinine", "elevated serum creatinine", "high blood creatinine level", "increase creatinine", "increased creatinine", "increase serum creatinine", "increased serum creatinine" ], "HP:0003227": [ "elevate circulate creatinine concentration", "elevated circulating creatinine concentration", "elevate creatinine", "elevated creatinine", "elevate serum creatinine", "elevated serum creatinine", "high blood creatinine level", "increase creatinine", "increased creatinine", "increase serum creatinine", "increased serum creatinine" ], "HP:0003260": [ "hydroxyprolinemia", "high blood hydroxyproline level", "high blood hydroxyproline levels" ], "HP:0003261": [ "increase circulate iga level", "increased circulating iga level", "elevate iga", "elevated iga", "elevate serum iga", "elevated serum iga", "iga hypergammaglobulinemia", "increased level of iga", "increased levels of iga", "increase serum iga", "increased serum iga" ], "HP:0004436": [ "increase circulate iga level", "increased circulating iga level", "elevate iga", "elevated iga", "elevate serum iga", "elevated serum iga", "iga hypergammaglobulinemia", "increased level of iga", "increased levels of iga", "increase serum iga", "increased serum iga" ], "HP:0005351": [ "increase circulate iga level", "increased circulating iga level", "elevate iga", "elevated iga", "elevate serum iga", "elevated serum iga", "iga hypergammaglobulinemia", "increased level of iga", "increased levels of iga", "increase serum iga", "increased serum iga" ], "HP:0005417": [ "increase circulate iga level", "increased circulating iga level", "elevate iga", "elevated iga", "elevate serum iga", "elevated serum iga", "iga hypergammaglobulinemia", "increased level of iga", "increased levels of iga", "increase serum iga", "increased serum iga" ], "HP:0003262": [ "smooth muscle antibody positivity", "anti - smooth muscle antibody positivity", "smooth muscle antibody positive" ], "HP:0003264": [ "deficiency of n - acetylglucosamine - 1 - phosphotransferase" ], "HP:0003265": [ "neonatal hyperbilirubinemia", "high blood bilirubin level in neonate", "high blood bilirubin levels in neonate", "hyperbilirubinemia , neonatal" ], "HP:0008152": [ "neonatal hyperbilirubinemia", "high blood bilirubin level in neonate", "high blood bilirubin levels in neonate", "hyperbilirubinemia , neonatal" ], "HP:0003267": [ "reduce orotidine 5 - prime phosphate decarboxylase level", "reduced orotidine 5 - prime phosphate decarboxylase level", "orotidine - 5 - prime - phosphate decarboxylase defect" ], "HP:0003268": [ "argininuria", "high urine arginine level", "high urine arginine levels" ], "HP:0003269": [ "sudanophilic leukodystrophy" ], "HP:0003270": [ "abdominal distention", "abdominal bloating", "abdominal distension", "abdominal swelling", "belly bloat", "belly bloating", "bloating", "distend abdomen", "distended abdomen" ], "HP:0001542": [ "abdominal distention", "abdominal bloating", "abdominal distension", "abdominal swelling", "belly bloat", "belly bloating", "bloating", "distend abdomen", "distended abdomen" ], "HP:0003364": [ "abdominal distention", "abdominal bloating", "abdominal distension", "abdominal swelling", "belly bloat", "belly bloating", "bloating", "distend abdomen", "distended abdomen" ], "HP:0003271": [ "visceromegaly" ], "HP:0003272": [ "abnormal hip bone morphology", "abnormality of the hip bone", "abnormality of the hip", "abnormality of the hips" ], "HP:0003273": [ "hip contracture", "flexion contracture of hip", "flexion contracture of hips", "flexion contractures of hips", "hip contractures", "hip flexion contracture", "hip flexion contractures" ], "HP:0003274": [ "hypoplastic acetabulae", "acetabular hypoplasia", "hypoplastic acetabulum", "hypoplastic acetabula" ], "HP:0003275": [ "narrow pelvis bone", "narrow pelvis" ], "HP:0003276": [ "pelvic bone exostosis", "pelvic bone exostoses", "pelvic exostosis", "pelvic exostoses" ], "HP:0003277": [ "constrict iliac wing", "constricted iliac wing", "constricted iliac wings" ], "HP:0003278": [ "square pelvis bone", "square pelvis", "square off pelvis", "squared off pelvis" ], "HP:0003279": [ "coxa magna" ], "HP:0003281": [ "increase circulate ferritin concentration", "increased circulating ferritin concentration", "elevate serum ferritin", "elevated serum ferritin", "high ferritin level", "hyperferritinaemia", "hyperferritinemia", "increase ferritin", "increased ferritin", "increase plasma ferritin", "increased plasma ferritin", "increase serum ferritin level", "increased serum ferritin level" ], "HP:0003282": [ "low alkaline phosphatase", "decrease serum alkaline phosphatase", "decreased serum alkaline phosphatase", "low alp" ], "HP:0003286": [ "cystathioninemia", "high blood cystathionine level", "high blood cystathionine levels" ], "HP:0003287": [ "abnormality of mitochondrial metabolism", "mitochondrial dysfunction" ], "HP:0003288": [ "mitochondrial propionyl - coa carboxylase defect", "mitochondrial pcc defect" ], "HP:0003292": [ "decrease serum leptin", "decreased serum leptin", "reduce circulate leptin level", "reduced circulating leptin level" ], "HP:0003295": [ "obsolete impair fsh and lh secretion", "obsolete impaired fsh and lh secretion" ], "HP:0003296": [ "hyperthreoninuria", "high urine threonine level", "high urine threonine levels" ], "HP:0003297": [ "hyperlysinuria", "high urine lysine level", "high urine lysine levels", "lysinuria" ], "HP:0002158": [ "hyperlysinuria", "high urine lysine level", "high urine lysine levels", "lysinuria" ], "HP:0003298": [ "spina bifida occulta" ], "HP:0003300": [ "ovoid vertebral body", "ovoid vertebral bodies", "bullet vertebral body", "oval vertebral body", "oval vertebral bodies", "ovoid vertebra", "ovoid vertebrae", "ovoid - shaped vertebral body", "ovoid - shaped vertebral bodies" ], "HP:0004559": [ "ovoid vertebral body", "ovoid vertebral bodies", "bullet vertebral body", "oval vertebral body", "oval vertebral bodies", "ovoid vertebra", "ovoid vertebrae", "ovoid - shaped vertebral body", "ovoid - shaped vertebral bodies" ], "HP:0003301": [ "irregular vertebral endplate", "irregular vertebral endplates", "end - plate irregularity", "end - plate irregularities", "endplate irregularity", "endplate irregularities", "irregular end plate", "irregular end plates", "irregular endplate", "irregular endplates", "irregular vertebral plate", "irregular vertebral plates", "vertebral endplate irregularity" ], "HP:0003420": [ "irregular vertebral endplate", "irregular vertebral endplates", "end - plate irregularity", "end - plate irregularities", "endplate irregularity", "endplate irregularities", "irregular end plate", "irregular end plates", "irregular endplate", "irregular endplates", "irregular vertebral plate", "irregular vertebral plates", "vertebral endplate irregularity" ], "HP:0004583": [ "irregular vertebral endplate", "irregular vertebral endplates", "end - plate irregularity", "end - plate irregularities", "endplate irregularity", "endplate irregularities", "irregular end plate", "irregular end plates", "irregular endplate", "irregular endplates", "irregular vertebral plate", "irregular vertebral plates", "vertebral endplate irregularity" ], "HP:0004628": [ "irregular vertebral endplate", "irregular vertebral endplates", "end - plate irregularity", "end - plate irregularities", "endplate irregularity", "endplate irregularities", "irregular end plate", "irregular end plates", "irregular endplate", "irregular endplates", "irregular vertebral plate", "irregular vertebral plates", "vertebral endplate irregularity" ], "HP:0003302": [ "spondylolisthesis", "displacement of one backbone compare to another", "displacement of one backbone compared to another", "slip backbone", "slipped backbone", "spondylolithesis" ], "HP:0003304": [ "spondylolysis" ], "HP:0003305": [ "block vertebra", "block vertebrae" ], "HP:0003306": [ "spinal rigidity", "reduce spine movement", "reduced spine movement", "rigid spine" ], "HP:0003307": [ "hyperlordosis", "lordosis", "prominent swayback" ], "HP:0002939": [ "hyperlordosis", "lordosis", "prominent swayback" ], "HP:0003308": [ "cervical subluxation" ], "HP:0003309": [ "ovoid thoracolumbar vertebra", "ovoid thoracolumbar vertebrae", "ovoid thoracic and lumbar vertebra", "ovoid thoracic and lumbar vertebrae" ], "HP:0003310": [ "abnormality of the odontoid process", "abnormal odontoid peg", "abnormal odontoid process" ], "HP:0004600": [ "abnormality of the odontoid process", "abnormal odontoid peg", "abnormal odontoid process" ], "HP:0003311": [ "hypoplasia of the odontoid process", "hypoplastic odontoid process", "odontoid hypoplasia", "small odontoid peg", "small odontoid process" ], "HP:0003299": [ "hypoplasia of the odontoid process", "hypoplastic odontoid process", "odontoid hypoplasia", "small odontoid peg", "small odontoid process" ], "HP:0004613": [ "hypoplasia of the odontoid process", "hypoplastic odontoid process", "odontoid hypoplasia", "small odontoid peg", "small odontoid process" ], "HP:0008481": [ "hypoplasia of the odontoid process", "hypoplastic odontoid process", "odontoid hypoplasia", "small odontoid peg", "small odontoid process" ], "HP:0003312": [ "abnormal form of the vertebral body", "abnormal form of the vertebral bodies", "abnormally shape vertebra", "abnormally shaped vertebrae" ], "HP:0003316": [ "butterfly vertebra", "butterfly vertebrae", "anterior rachischisis", "sagittal clefting of vertebra", "sagittal clefting of vertebrae" ], "HP:0003318": [ "cervical spine hypermobility", "cervical spine joint hypermobility" ], "HP:0003319": [ "abnormality of the cervical spine", "abnormal cervical spine", "abnormality of cervical vertebra", "abnormality of the cervical vertebra", "abnormality of the cervical vertebrae", "cervical spine abnormality", "cervical spine abnormalities", "cervical vertebral abnormality", "cervical vertebral abnormalities", "cervical vertebral anomaly", "cervical vertebral anomalies", "disorder of cervical vertebra" ], "HP:0004587": [ "abnormality of the cervical spine", "abnormal cervical spine", "abnormality of cervical vertebra", "abnormality of the cervical vertebra", "abnormality of the cervical vertebrae", "cervical spine abnormality", "cervical spine abnormalities", "cervical vertebral abnormality", "cervical vertebral abnormalities", "cervical vertebral anomaly", "cervical vertebral anomalies", "disorder of cervical vertebra" ], "HP:0003320": [ "c1 - c2 subluxation" ], "HP:0003321": [ "biconcave flatten vertebra", "biconcave flattened vertebrae" ], "HP:0005782": [ "biconcave flatten vertebra", "biconcave flattened vertebrae" ], "HP:0003323": [ "progressive muscle weakness", "muscle weakness , progressive", "progressive muscular weakness" ], "HP:0009032": [ "progressive muscle weakness", "muscle weakness , progressive", "progressive muscular weakness" ], "HP:0003324": [ "generalize muscle weakness", "generalized muscle weakness", "generalise muscle weakness", "generalised muscle weakness", "generalise weakness", "generalised weakness", "generalize weakness", "generalized weakness", "muscle weakness , diffuse", "muscle weakness , generalise", "muscle weakness , generalised", "muscle weakness , generalize", "muscle weakness , generalized" ], "HP:0003686": [ "generalize muscle weakness", "generalized muscle weakness", "generalise muscle weakness", "generalised muscle weakness", "generalise weakness", "generalised weakness", "generalize weakness", "generalized weakness", "muscle weakness , diffuse", "muscle weakness , generalise", "muscle weakness , generalised", "muscle weakness , generalize", "muscle weakness , generalized" ], "HP:0003723": [ "generalize muscle weakness", "generalized muscle weakness", "generalise muscle weakness", "generalised muscle weakness", "generalise weakness", "generalised weakness", "generalize weakness", "generalized weakness", "muscle weakness , diffuse", "muscle weakness , generalise", "muscle weakness , generalised", "muscle weakness , generalize", "muscle weakness , generalized" ], "HP:0003325": [ "limb - girdle muscle weakness", "limb girdle weakness", "muscle weakness , limb - girdle", "muscular weakness , limb - girdle" ], "HP:0008971": [ "limb - girdle muscle weakness", "limb girdle weakness", "muscle weakness , limb - girdle", "muscular weakness , limb - girdle" ], "HP:0003326": [ "myalgia", "muscle ache", "muscle pain", "myalgias" ], "HP:0003718": [ "myalgia", "muscle ache", "muscle pain", "myalgias" ], "HP:0003327": [ "axial muscle weakness" ], "HP:0003328": [ "abnormal hair laboratory examination" ], "HP:0003329": [ "hair shaft flatten at irregular interval and twist through 180 degree about their ax", "hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes" ], "HP:0003330": [ "abnormal bone structure" ], "HP:0003332": [ "absent primary metaphyseal spongiosa" ], "HP:0003333": [ "increase serum beta - hexosaminidase", "increased serum beta - hexosaminidase" ], "HP:0008299": [ "increase serum beta - hexosaminidase", "increased serum beta - hexosaminidase" ], "HP:0003334": [ "elevate circulate catecholamine level", "elevated circulating catecholamine level" ], "HP:0003336": [ "abnormal enchondral ossification" ], "HP:0003331": [ "abnormal enchondral ossification" ], "HP:0003337": [ "reduce prothrombin consumption", "reduced prothrombin consumption", "poor prothrombin consumption" ], "HP:0008172": [ "reduce prothrombin consumption", "reduced prothrombin consumption", "poor prothrombin consumption" ], "HP:0003338": [ "focal necrosis of right ventricular muscle cell", "focal necrosis of right ventricular muscle cells" ], "HP:0003339": [ "pyrimidine - responsive megaloblastic anemia", "anaemia correct by uridylic acid and cytidylic acid", "anaemia corrected by uridylic acid and cytidylic acid", "anemia correct by uridylic acid and cytidylic acid", "anemia corrected by uridylic acid and cytidylic acid", "pyrimidine - responsive megaloblastic anaemia" ], "HP:0003340": [ "obsolete abnormal dermatological laboratory finding", "obsolete abnormal dermatological laboratory findings" ], "HP:0003341": [ "subepidermal blister with cleavage in the lamina lucida", "subepidermal blistering with cleavage in the lamina lucida", "blister with junctional split", "blistering with junctional split", "junctional split" ], "HP:0003343": [ "reduce glutathione synthetase level", "reduced glutathione synthetase level", "glutathione synthetase deficiency" ], "HP:0003344": [ "3 - methylglutaric aciduria", "3 - methylglutaricaciduria" ], "HP:0003345": [ "elevate urinary norepinephrine", "elevated urinary norepinephrine" ], "HP:0003347": [ "impaired lymphocyte transformation with phytohemagglutinin" ], "HP:0003348": [ "hyperalaninemia", "increase blood alanine", "increased blood alanine", "increase serum alanine", "increased serum alanine" ], "HP:0003349": [ "low cholesterol esterification rate" ], "HP:0003351": [ "decrease circulate renin level", "decreased circulating renin level", "decrease plasma renin activity", "decreased plasma renin activity", "low plasma renin activity", "suppress plasma renin activity", "suppressed plasma renin activity" ], "HP:0003263": [ "decrease circulate renin level", "decreased circulating renin level", "decrease plasma renin activity", "decreased plasma renin activity", "low plasma renin activity", "suppress plasma renin activity", "suppressed plasma renin activity" ], "HP:0003352": [ "endopolyploidy on chromosome study of bone marrow", "endopolyploidy on chromosome studies of bone marrow" ], "HP:0003353": [ "propionyl - coa carboxylase deficiency" ], "HP:0003354": [ "hyperthreoninemia", "elevate circulate threonine", "elevated circulating threonine", "high blood threonine level", "high blood threonine levels" ], "HP:0003355": [ "aminoaciduria", "abnormal urinary amino - acid finding", "abnormal urinary amino - acid findings", "high urine amino acid level", "high urine amino acid levels", "hyperaminoaciduria", "increased level of animo acid in urine", "increased levels of animo acids in urine", "obsolete renal aminoaciduria" ], "HP:0002903": [ "aminoaciduria", "abnormal urinary amino - acid finding", "abnormal urinary amino - acid findings", "high urine amino acid level", "high urine amino acid levels", "hyperaminoaciduria", "increased level of animo acid in urine", "increased levels of animo acids in urine", "obsolete renal aminoaciduria" ], "HP:0008335": [ "aminoaciduria", "abnormal urinary amino - acid finding", "abnormal urinary amino - acid findings", "high urine amino acid level", "high urine amino acid levels", "hyperaminoaciduria", "increased level of animo acid in urine", "increased levels of animo acids in urine", "obsolete renal aminoaciduria" ], "HP:0200014": [ "aminoaciduria", "abnormal urinary amino - acid finding", "abnormal urinary amino - acid findings", "high urine amino acid level", "high urine amino acid levels", "hyperaminoaciduria", "increased level of animo acid in urine", "increased levels of animo acids in urine", "obsolete renal aminoaciduria" ], "HP:0003357": [ "thymic hormone decrease", "thymic hormone decreased", "decrease thymic hormone", "decreased thymic hormone" ], "HP:0003358": [ "elevate intracellular cystine", "elevated intracellular cystine" ], "HP:0003359": [ "decrease urinary sulfate", "decreased urinary sulfate", "decrease urinary sulphate", "decreased urinary sulphate" ], "HP:0003361": [ "tryptophanuria", "high urine tryptophan level", "high urine tryptophan levels" ], "HP:0003362": [ "increase vldl cholesterol concentration", "increased vldl cholesterol concentration", "increase circulate very - low - density lipoprotein cholesterol", "increased circulating very - low - density lipoprotein cholesterol", "increase circulate very - low - density lipoprotein level", "increased circulating very - low - density lipoprotein levels", "increase plasma vldl cholesterol", "increased plasma vldl cholesterol" ], "HP:0003363": [ "abdominal situs inversus", "situs inversus visceralis", "situs inversus viscerum" ], "HP:0003365": [ "arthralgia of the hip", "coxalgia", "hip arthralgia", "hip joint pain" ], "HP:0003366": [ "abnormal femoral neck / head morphology", "abnormal neck or head of thigh bone", "abnormality of the femoral neck or head region" ], "HP:0003367": [ "abnormal femoral neck morphology", "abnormal neck of thigh bone", "abnormality of the femoral neck" ], "HP:0003368": [ "abnormal femoral head morphology", "abnormal head of thigh bone", "abnormality of the femoral head" ], "HP:0003370": [ "flat capital femoral epiphysis", "flat capital femoral epiphyses", "flat end part of innermost thighbone", "flat femoral capital epiphysis", "flat femoral capital epiphyses", "flat proximal femoral epiphysis", "flat proximal femoral epiphyses", "flatten proximal femoral epiphysis", "flattened proximal femoral epiphyses" ], "HP:0006393": [ "flat capital femoral epiphysis", "flat capital femoral epiphyses", "flat end part of innermost thighbone", "flat femoral capital epiphysis", "flat femoral capital epiphyses", "flat proximal femoral epiphysis", "flat proximal femoral epiphyses", "flatten proximal femoral epiphysis", "flattened proximal femoral epiphyses" ], "HP:0003371": [ "enlargement of the proximal femoral epiphysis", "enlarge capital femoral epiphysis", "enlarged capital femoral epiphyses", "enlarged end part of innermost thighbone" ], "HP:0003375": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0008803": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0008805": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0008813": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0008840": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0008842": [ "narrow great sciatic notch", "narrow greater sciatic notch", "narrow great sacrosciatic notch", "narrow greater sacrosciatic notches", "narrow sacroiliac notch", "narrow sacrosciatic notch", "narrow sciatic notch", "narrow sciatic notches", "narrowed greater sciatic notch", "narrowed sacrosciatic notch", "small sacrosciatic notch", "small sacrosciatic notches", "obsolete narrow sacroiliac notch" ], "HP:0003376": [ "steppage gait", "'steppage ' gait", "high stepping" ], "HP:0003378": [ "axonal degeneration / regeneration", "axon degeneration and regeneration" ], "HP:0003380": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0003385": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0003386": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0007093": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0007135": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0007177": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0007320": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0007322": [ "decreased number of peripheral myelinated nerve fiber", "decreased number of peripheral myelinated nerve fibers", "decreased number of large and small myelinated fiber", "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fibre", "decreased number of large and small myelinated fibres", "decreased number of peripheral myelinated nerve fibre", "decreased number of peripheral myelinated nerve fibres", "loss of myelinated fiber", "loss of myelinated fibers", "loss of myelinated fibre", "loss of myelinated fibres" ], "HP:0003382": [ "hypertrophic nerve change", "hypertrophic nerve changes" ], "HP:0003383": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0003389": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0007013": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0007022": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0007084": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0008276": [ "onion bulb formation", "'onion bulb ' formation", "'onion bulb ' formations", "onion bulb formations" ], "HP:0003384": [ "peripheral axonal atrophy" ], "HP:0003387": [ "decreased number of large peripheral myelinated nerve fiber", "decreased number of large peripheral myelinated nerve fibers", "decreased number of large peripheral myelinated nerve fibre", "decreased number of large peripheral myelinated nerve fibres", "depletion of large myelinated fiber", "depletion of large myelinated fibers", "depletion of large myelinated fibre", "depletion of large myelinated fibres", "loss of large myelinated fiber", "loss of large myelinated fibers", "loss of large myelinated fibre", "loss of large myelinated fibres", "loss of large myelinated nerve fiber", "loss of larger myelinated nerve fibers", "loss of large myelinated nerve fibre", "loss of larger myelinated nerve fibres" ], "HP:0006868": [ "decreased number of large peripheral myelinated nerve fiber", "decreased number of large peripheral myelinated nerve fibers", "decreased number of large peripheral myelinated nerve fibre", "decreased number of large peripheral myelinated nerve fibres", "depletion of large myelinated fiber", "depletion of large myelinated fibers", "depletion of large myelinated fibre", "depletion of large myelinated fibres", "loss of large myelinated fiber", "loss of large myelinated fibers", "loss of large myelinated fibre", "loss of large myelinated fibres", "loss of large myelinated nerve fiber", "loss of larger myelinated nerve fibers", "loss of large myelinated nerve fibre", "loss of larger myelinated nerve fibres" ], "HP:0007031": [ "decreased number of large peripheral myelinated nerve fiber", "decreased number of large peripheral myelinated nerve fibers", "decreased number of large peripheral myelinated nerve fibre", "decreased number of large peripheral myelinated nerve fibres", "depletion of large myelinated fiber", "depletion of large myelinated fibers", "depletion of large myelinated fibre", "depletion of large myelinated fibres", "loss of large myelinated fiber", "loss of large myelinated fibers", "loss of large myelinated fibre", "loss of large myelinated fibres", "loss of large myelinated nerve fiber", "loss of larger myelinated nerve fibers", "loss of large myelinated nerve fibre", "loss of larger myelinated nerve fibres" ], "HP:0007315": [ "decreased number of large peripheral myelinated nerve fiber", "decreased number of large peripheral myelinated nerve fibers", "decreased number of large peripheral myelinated nerve fibre", "decreased number of large peripheral myelinated nerve fibres", "depletion of large myelinated fiber", "depletion of large myelinated fibers", "depletion of large myelinated fibre", "depletion of large myelinated fibres", "loss of large myelinated fiber", "loss of large myelinated fibers", "loss of large myelinated fibre", "loss of large myelinated fibres", "loss of large myelinated nerve fiber", "loss of larger myelinated nerve fibers", "loss of large myelinated nerve fibre", "loss of larger myelinated nerve fibres" ], "HP:0003388": [ "easy fatigability", "tire easily", "tired easily" ], "HP:0003390": [ "sensory axonal neuropathy", "axonal sensory neuropathy", "peripheral sensory axonal neuropathy" ], "HP:0006883": [ "sensory axonal neuropathy", "axonal sensory neuropathy", "peripheral sensory axonal neuropathy" ], "HP:0007248": [ "sensory axonal neuropathy", "axonal sensory neuropathy", "peripheral sensory axonal neuropathy" ], "HP:0007345": [ "sensory axonal neuropathy", "axonal sensory neuropathy", "peripheral sensory axonal neuropathy" ], "HP:0003391": [ "gowers sign", "gower sign", "positive gower sign", "positive gowers sign" ], "HP:0003392": [ "first dorsal interossei muscle weakness" ], "HP:0003393": [ "thenar muscle atrophy", "thenar atrophy" ], "HP:0003394": [ "muscle spasm", "muscle cramp", "muscle cramps", "obsolete muscle spasm" ], "HP:0009018": [ "muscle spasm", "muscle cramp", "muscle cramps", "obsolete muscle spasm" ], "HP:0031988": [ "muscle spasm", "muscle cramp", "muscle cramps", "obsolete muscle spasm" ], "HP:0003396": [ "syringomyelia", "fluid - fill cyst in spinal cord", "fluid - filled cyst in spinal cord", "syrinx" ], "HP:0006933": [ "syringomyelia", "fluid - fill cyst in spinal cord", "fluid - filled cyst in spinal cord", "syrinx" ], "HP:0003397": [ "generalize hypotonia due to defect at the neuromuscular junction", "generalized hypotonia due to defect at the neuromuscular junction", "generalise hypotonia due to defect at the neuromuscular junction", "generalised hypotonia due to defect at the neuromuscular junction" ], "HP:0003398": [ "abnormal synaptic transmission at the neuromuscular junction", "abnormality of neuromuscular transmission" ], "HP:0003400": [ "basal lamina onion bulb formation", "basal lamina 'onion bulb ' formation on nerve biopsy", "basal lamina 'onion bulb ' formations on nerve biopsy" ], "HP:0003401": [ "paresthesia", "paresthesias", "pin and needle feel", "pins and needles feeling", "tingle", "tingling" ], "HP:0002082": [ "paresthesia", "paresthesias", "pin and needle feel", "pins and needles feeling", "tingle", "tingling" ], "HP:0003402": [ "decreased miniature endplate potential", "decreased miniature endplate potentials", "decrease mepp", "decreased mepp", "small miniature endplate current", "small miniature endplate currents", "small miniature endplate potential", "small miniature endplate potentials" ], "HP:0003403": [ "emg : decremental response of compound muscle action potential to repetitive nerve stimulation", "emg : decrement at repetitive stimulation", "emg : decremental response of cmap to repetitive nerve stimulation" ], "HP:0003430": [ "emg : decremental response of compound muscle action potential to repetitive nerve stimulation", "emg : decrement at repetitive stimulation", "emg : decremental response of cmap to repetitive nerve stimulation" ], "HP:0003478": [ "emg : decremental response of compound muscle action potential to repetitive nerve stimulation", "emg : decrement at repetitive stimulation", "emg : decremental response of cmap to repetitive nerve stimulation" ], "HP:0003405": [ "diffuse axonal swelling" ], "HP:0003406": [ "peripheral nerve compression" ], "HP:0003409": [ "distal sensory impairment of all modality", "distal sensory impairment of all modalities", "distal sensory loss to all modality", "distal sensory loss to all modalities" ], "HP:0003411": [ "proximal femoral metaphyseal irregularity", "irregular proximal femoral metaphyses" ], "HP:0003413": [ "atlantoaxial abnormality" ], "HP:0003414": [ "atlantoaxial dislocation", "atlanto - axial subluxation", "atlantoaxial subluxation" ], "HP:0003416": [ "spinal canal stenosis", "narrow spinal canal", "spinal stenosis" ], "HP:0008446": [ "spinal canal stenosis", "narrow spinal canal", "spinal stenosis" ], "HP:0003417": [ "coronal cleft vertebra", "coronal cleft vertebrae", "coronal cleft of vertebra", "coronal cleft of vertebrae", "coronal cleft", "coronal clefts", "coronal vertebral cleft", "coronal vertebral clefts", "vertebral coronal cleft", "vertebral coronal clefts" ], "HP:0003673": [ "coronal cleft vertebra", "coronal cleft vertebrae", "coronal cleft of vertebra", "coronal cleft of vertebrae", "coronal cleft", "coronal clefts", "coronal vertebral cleft", "coronal vertebral clefts", "vertebral coronal cleft", "vertebral coronal clefts" ], "HP:0003418": [ "back pain" ], "HP:0003419": [ "low back pain", "lower back pain" ], "HP:0003422": [ "vertebral segmentation defect", "abnormal spinal segmentation" ], "HP:0005705": [ "vertebral segmentation defect", "abnormal spinal segmentation" ], "HP:0003423": [ "thoracolumbar kyphoscoliosis", "dorsolumbar kyphosis" ], "HP:0003426": [ "first dorsal interossei muscle atrophy" ], "HP:0003427": [ "thenar muscle weakness" ], "HP:0003429": [ "cns hypomyelination", "hypomyelination" ], "HP:0003431": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0000760": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0003379": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0003395": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0003437": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0006907": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0008170": [ "decrease motor nerve conduction velocity", "decreased motor nerve conduction velocity", "decrease motor ncv", "decreased motor ncv", "decreased motor nerve conduction velocities", "reduce motor nerve conduction velocity", "reduced motor nerve conduction velocity" ], "HP:0003434": [ "sensory ataxic neuropathy" ], "HP:0003435": [ "cold - induced hand cramp", "cold - induced hand cramps" ], "HP:0003436": [ "prolonged miniature endplate current", "prolonged miniature endplate currents", "prolong mepc", "prolonged mepc", "prolong mepp", "prolonged mepp", "prolonged miniature endplate potential", "prolonged miniature endplate potentials" ], "HP:0003479": [ "prolonged miniature endplate current", "prolonged miniature endplate currents", "prolong mepc", "prolonged mepc", "prolong mepp", "prolonged mepp", "prolonged miniature endplate potential", "prolonged miniature endplate potentials" ], "HP:0003438": [ "absent achilles reflex", "absent ankle reflex", "absent ankle reflexes" ], "HP:0007032": [ "absent achilles reflex", "absent ankle reflex", "absent ankle reflexes" ], "HP:0007241": [ "absent achilles reflex", "absent ankle reflex", "absent ankle reflexes" ], "HP:0003440": [ "horizontal sacrum" ], "HP:0003443": [ "decreased size of nerve terminal", "decreased size of nerve terminals" ], "HP:0003444": [ "emg : chronic denervation sign", "emg : chronic denervation signs" ], "HP:0007059": [ "emg : chronic denervation sign", "emg : chronic denervation signs" ], "HP:0003445": [ "emg : neuropathic change", "emg : neuropathic changes", "emg : neurogenic abnormality", "emg : neurogenic abnormalities", "emg : neurogenic change", "emg : neurogenic changes", "emg : neurogenic finding", "emg : neurogenic findings" ], "HP:0002178": [ "emg : neuropathic change", "emg : neuropathic changes", "emg : neurogenic abnormality", "emg : neurogenic abnormalities", "emg : neurogenic change", "emg : neurogenic changes", "emg : neurogenic finding", "emg : neurogenic findings" ], "HP:0002547": [ "emg : neuropathic change", "emg : neuropathic changes", "emg : neurogenic abnormality", "emg : neurogenic abnormalities", "emg : neurogenic change", "emg : neurogenic changes", "emg : neurogenic finding", "emg : neurogenic findings" ], "HP:0007279": [ "emg : neuropathic change", "emg : neuropathic changes", "emg : neurogenic abnormality", "emg : neurogenic abnormalities", "emg : neurogenic change", "emg : neurogenic changes", "emg : neurogenic finding", "emg : neurogenic findings" ], "HP:0003447": [ "axonal loss" ], "HP:0003360": [ "axonal loss" ], "HP:0003448": [ "decreased sensory nerve conduction velocity", "decreased sensory ncv", "decreased sensory nerve conduction velocities" ], "HP:0006914": [ "decreased sensory nerve conduction velocity", "decreased sensory ncv", "decreased sensory nerve conduction velocities" ], "HP:0003449": [ "cold - induced muscle cramp", "cold - induced muscle cramps" ], "HP:0003450": [ "axonal regeneration", "regenerative activity on nerve biopsy" ], "HP:0003451": [ "increased rate of premature chromosome condensation" ], "HP:0003452": [ "increase serum iron", "increased serum iron" ], "HP:0003453": [ "antineutrophil antibody positivity", "antineutrophil antibody", "antineutrophil antibodies", "neutrophil antibody positive" ], "HP:0003454": [ "platelet antibody positive", "platelet antibody" ], "HP:0003455": [ "elevate circulate long chain fatty acid concentration", "elevated circulating long chain fatty acid concentration", "elevate long chain fatty acid", "elevated long chain fatty acids", "elevate serum long - chain fatty acid", "elevated serum long - chain fatty acids", "increase serum long - chain fatty acid", "increased serum long - chain fatty acids", "obsolete elevate serum long - chain fatty acid", "obsolete elevated serum long - chain fatty acids" ], "HP:0008333": [ "elevate circulate long chain fatty acid concentration", "elevated circulating long chain fatty acid concentration", "elevate long chain fatty acid", "elevated long chain fatty acids", "elevate serum long - chain fatty acid", "elevated serum long - chain fatty acids", "increase serum long - chain fatty acid", "increased serum long - chain fatty acids", "obsolete elevate serum long - chain fatty acid", "obsolete elevated serum long - chain fatty acids" ], "HP:0045016": [ "elevate circulate long chain fatty acid concentration", "elevated circulating long chain fatty acid concentration", "elevate long chain fatty acid", "elevated long chain fatty acids", "elevate serum long - chain fatty acid", "elevated serum long - chain fatty acids", "increase serum long - chain fatty acid", "increased serum long - chain fatty acids", "obsolete elevate serum long - chain fatty acid", "obsolete elevated serum long - chain fatty acids" ], "HP:0003456": [ "low urinary cyclic amp response to pth administration" ], "HP:0003457": [ "emg abnormality", "abnormal electromyography find", "abnormal electromyography finding", "abnormal emg", "electromyogram abnormal", "emg abnormalities" ], "HP:0002177": [ "emg abnormality", "abnormal electromyography find", "abnormal electromyography finding", "abnormal emg", "electromyogram abnormal", "emg abnormalities" ], "HP:0003751": [ "emg abnormality", "abnormal electromyography find", "abnormal electromyography finding", "abnormal emg", "electromyogram abnormal", "emg abnormalities" ], "HP:0003753": [ "emg abnormality", "abnormal electromyography find", "abnormal electromyography finding", "abnormal emg", "electromyogram abnormal", "emg abnormalities" ], "HP:0100286": [ "emg abnormality", "abnormal electromyography find", "abnormal electromyography finding", "abnormal emg", "electromyogram abnormal", "emg abnormalities" ], "HP:0003458": [ "emg : myopathic abnormality", "emg : myopathic abnormalities", "emg : myopathic change", "emg : myopathic changes", "emg : myopathy", "myopathic electromyogram" ], "HP:0003322": [ "emg : myopathic abnormality", "emg : myopathic abnormalities", "emg : myopathic change", "emg : myopathic changes", "emg : myopathy", "myopathic electromyogram" ], "HP:0003711": [ "emg : myopathic abnormality", "emg : myopathic abnormalities", "emg : myopathic change", "emg : myopathic changes", "emg : myopathy", "myopathic electromyogram" ], "HP:0009021": [ "emg : myopathic abnormality", "emg : myopathic abnormalities", "emg : myopathic change", "emg : myopathic changes", "emg : myopathy", "myopathic electromyogram" ], "HP:0003459": [ "polyclonal elevation of igm" ], "HP:0003460": [ "decrease circulate total iga", "decreased circulating total iga", "decrease total iga in blood", "decreased total iga in blood", "total immunoglobulin a deficiency" ], "HP:0003461": [ "increase urinary o - link sialopeptides", "increased urinary o - linked sialopeptides" ], "HP:0003462": [ "elevate 8 - dehydrocholesterol", "elevated 8 - dehydrocholesterol" ], "HP:0003463": [ "increase extraneuronal autofluorescent lipopigment", "increased extraneuronal autofluorescent lipopigment", "lipopigment in extraneuronal cell", "lipopigment in extraneuronal cells" ], "HP:0003465": [ "elevate 8 ( 9 ) - cholestenol", "elevated 8 ( 9 ) - cholestenol" ], "HP:0003466": [ "paradoxical increase cortisol secretion on dexamethasone suppression test", "paradoxical increased cortisol secretion on dexamethasone suppression test" ], "HP:0003467": [ "atlantoaxial instability" ], "HP:0003468": [ "abnormal vertebral morphology", "abnormal vertebra", "abnormal vertebrae", "abnormal vertebral body", "abnormal vertebral bodies", "abnormality of the vertebra", "abnormality of the vertebrae", "multiple vertebral anomaly", "multiple vertebral anomalies", "vertebral anomaly", "vertebral anomalies" ], "HP:0005719": [ "abnormal vertebral morphology", "abnormal vertebra", "abnormal vertebrae", "abnormal vertebral body", "abnormal vertebral bodies", "abnormality of the vertebra", "abnormality of the vertebrae", "multiple vertebral anomaly", "multiple vertebral anomalies", "vertebral anomaly", "vertebral anomalies" ], "HP:0003469": [ "peripheral dysmyelination" ], "HP:0003470": [ "paralysis", "inability to move" ], "HP:0003472": [ "hypocalcemic tetany" ], "HP:0003473": [ "fatigable weakness", "fatigable weakness of limb muscle", "fatigable weakness of limb muscles", "generalise muscle weakness due to defect at the neuromuscular junction", "generalised muscle weakness due to defect at the neuromuscular junction", "generalize muscle weakness due to defect at the neuromuscular junction", "generalized muscle weakness due to defect at the neuromuscular junction", "myasthenia", "myasthenic weakness", "proximal muscle weakness due to defect at the neuromuscular junction" ], "HP:0003399": [ "fatigable weakness", "fatigable weakness of limb muscle", "fatigable weakness of limb muscles", "generalise muscle weakness due to defect at the neuromuscular junction", "generalised muscle weakness due to defect at the neuromuscular junction", "generalize muscle weakness due to defect at the neuromuscular junction", "generalized muscle weakness due to defect at the neuromuscular junction", "myasthenia", "myasthenic weakness", "proximal muscle weakness due to defect at the neuromuscular junction" ], "HP:0003428": [ "fatigable weakness", "fatigable weakness of limb muscle", "fatigable weakness of limb muscles", "generalise muscle weakness due to defect at the neuromuscular junction", "generalised muscle weakness due to defect at the neuromuscular junction", "generalize muscle weakness due to defect at the neuromuscular junction", "generalized muscle weakness due to defect at the neuromuscular junction", "myasthenia", "myasthenic weakness", "proximal muscle weakness due to defect at the neuromuscular junction" ], "HP:0100794": [ "fatigable weakness", "fatigable weakness of limb muscle", "fatigable weakness of limb muscles", "generalise muscle weakness due to defect at the neuromuscular junction", "generalised muscle weakness due to defect at the neuromuscular junction", "generalize muscle weakness due to defect at the neuromuscular junction", "generalized muscle weakness due to defect at the neuromuscular junction", "myasthenia", "myasthenic weakness", "proximal muscle weakness due to defect at the neuromuscular junction" ], "HP:0003474": [ "somatic sensory dysfunction", "sensory impairment" ], "HP:0100964": [ "somatic sensory dysfunction", "sensory impairment" ], "HP:0003477": [ "peripheral axonal neuropathy", "axonal neuropathy", "axonal peripheral neuropathy" ], "HP:0006814": [ "peripheral axonal neuropathy", "axonal neuropathy", "axonal peripheral neuropathy" ], "HP:0006842": [ "peripheral axonal neuropathy", "axonal neuropathy", "axonal peripheral neuropathy" ], "HP:0007169": [ "peripheral axonal neuropathy", "axonal neuropathy", "axonal peripheral neuropathy" ], "HP:0008304": [ "peripheral axonal neuropathy", "axonal neuropathy", "axonal peripheral neuropathy" ], "HP:0003481": [ "segmental peripheral demyelination / remyelination", "segmental demyelination / remyelination" ], "HP:0003425": [ "segmental peripheral demyelination / remyelination", "segmental demyelination / remyelination" ], "HP:0003482": [ "emg : axonal abnormality" ], "HP:0003484": [ "upper limb muscle weakness", "decrease arm strength", "decreased arm strength", "weak arm" ], "HP:0003487": [ "babinski sign", "extensor plantar reflex", "extensor plantar reflexes", "extensor plantar response", "extensor plantar responses", "positive babinski sign" ], "HP:0001352": [ "babinski sign", "extensor plantar reflex", "extensor plantar reflexes", "extensor plantar response", "extensor plantar responses", "positive babinski sign" ], "HP:0003489": [ "acute episode of neuropathic symptom", "acute episodes of neuropathic symptoms" ], "HP:0003491": [ "elevate urine pyrophosphate", "elevated urine pyrophosphate" ], "HP:0003492": [ "high urinary gonadotropin level" ], "HP:0003493": [ "antinuclear antibody positivity", "antinuclear antibody", "antinuclear antibodies", "antinuclear antibody positive", "elevate antinuclear antibody", "elevated antinuclear antibody", "serum antinuclear antibody" ], "HP:0003494": [ "obsolete loss of heterozygosity , multiple chromosome", "obsolete loss of heterozygosity , multiple chromosomes" ], "HP:0003495": [ "gm2 - ganglioside accumulation" ], "HP:0003496": [ "increase circulate igm level", "increased circulating igm level", "increase igm level", "increased igm levels", "increased level of igm", "increased levels of igm" ], "HP:0002962": [ "increase circulate igm level", "increased circulating igm level", "increase igm level", "increased igm levels", "increased level of igm", "increased levels of igm" ], "HP:0003498": [ "disproportionate short stature", "short stature , disproportionate", "short stature , severe disproportionate" ], "HP:0008895": [ "disproportionate short stature", "short stature , disproportionate", "short stature , severe disproportionate" ], "HP:0008900": [ "disproportionate short stature", "short stature , disproportionate", "short stature , severe disproportionate" ], "HP:0003502": [ "mild short stature", "relative short stature", "short stature , mild" ], "HP:0003503": [ "mild short stature", "relative short stature", "short stature , mild" ], "HP:0008879": [ "mild short stature", "relative short stature", "short stature , mild" ], "HP:0008908": [ "mild short stature", "relative short stature", "short stature , mild" ], "HP:0003508": [ "proportionate short stature", "proportionate small stature", "short stature , proportionate" ], "HP:0003499": [ "proportionate short stature", "proportionate small stature", "short stature , proportionate" ], "HP:0003510": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0001424": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0001516": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0003504": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0008867": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0008884": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0008907": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0008920": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0008930": [ "severe short stature", "dwarfism", "proportionate dwarfism", "short stature , extreme", "short stature , severe" ], "HP:0003513": [ "reduce ratio of renal calcium clearance to creatinine clearance", "reduced ratio of renal calcium clearance to creatinine clearance", "reduce ration of kidney calcium clearance to creatinine clearance", "reduced ration of kidney calcium clearance to creatinine clearance", "reduce ration of renal ca clearance to creatinine clearance", "reduced ration of renal ca clearance to creatinine clearance", "reduce ration of renal ca2+ to creatinine clearance", "reduced ration of renal ca2+ to creatinine clearance" ], "HP:0003514": [ "deficiency or absence of cytochrome b ( - 245 )", "deficiency or absence of cytochrome b" ], "HP:0003517": [ "birth length great than 97th percentile", "birth length greater than 97th percentile", "fetal overgrowth", "foetal overgrowth" ], "HP:0003521": [ "disproportionate short - trunk short stature", "disproportionate short - trunked dwarfism", "disproportionate short - trunked short stature", "short - trunked dwarfism" ], "HP:0001524": [ "disproportionate short - trunk short stature", "disproportionate short - trunked dwarfism", "disproportionate short - trunked short stature", "short - trunked dwarfism" ], "HP:0003500": [ "disproportionate short - trunk short stature", "disproportionate short - trunked dwarfism", "disproportionate short - trunked short stature", "short - trunked dwarfism" ], "HP:0008923": [ "disproportionate short - trunk short stature", "disproportionate short - trunked dwarfism", "disproportionate short - trunked short stature", "short - trunked dwarfism" ], "HP:0003524": [ "decrease methionine synthase activity", "decreased methionine synthase activity", "decreased activity of methionine synthase", "methionine synthase activity decrease", "methionine synthase activity decreased", "methionine synthase deficiency", "reduce methionine synthase activity", "reduced methionine synthase activity" ], "HP:0003526": [ "orotic acid crystalluria" ], "HP:0003527": [ "hyperprostaglandinuria", "high urine prostaglandin level", "high urine prostaglandin levels" ], "HP:0003528": [ "elevate calcitonin", "elevated calcitonin" ], "HP:0003529": [ "parathormone - independent increase renal tubular calcium reabsorption", "parathormone - independent increased renal tubular calcium reabsorption", "parathormone - independent increase renal tubular ca reabsorption", "parathormone - independent increased renal tubular ca reabsorption", "parathormone - independent increase renal tubular ca2+ reabsorption", "parathormone - independent increased renal tubular ca2+ reabsorption" ], "HP:0003530": [ "elevate circulate glutaric acid concentration", "elevated circulating glutaric acid concentration", "glutarate acidemia", "glutaric acidemia" ], "HP:0003532": [ "ornithinuria" ], "HP:0003533": [ "reduce acetaldehyde dehydrogenase level", "reduced acetaldehyde dehydrogenase level", "delay oxidation of acetaldehyde", "delayed oxidation of acetaldehyde" ], "HP:0003534": [ "reduce xanthine dehydrogenase level", "reduced xanthine dehydrogenase level", "xanthine dehydrogenase deficiency" ], "HP:0003535": [ "3 - methylglutaconic aciduria", "3 - methylglutaconicaciduria" ], "HP:0003536": [ "decrease fumarate hydratase activity", "decreased fumarate hydratase activity" ], "HP:0003537": [ "hypouricemia", "low blood uric acid level", "low blood uric acid levels" ], "HP:0003538": [ "increase serum iduronate sulfatase level", "increased serum iduronate sulfatase level", "increase serum iduronate sulfatase", "increased serum iduronate sulfatase" ], "HP:0003540": [ "impaired platelet aggregation", "defective platelet aggregation", "deficient platelet aggregation", "platelet aggregation defect" ], "HP:0008177": [ "impaired platelet aggregation", "defective platelet aggregation", "deficient platelet aggregation", "platelet aggregation defect" ], "HP:0003541": [ "urinary glycosaminoglycan excretion" ], "HP:0003542": [ "increase serum pyruvate", "increased serum pyruvate", "increase serum pyruvic acid", "increased serum pyruvic acid" ], "HP:0003546": [ "exercise intolerance", "decrease ability to exercise", "decreased ability to exercise", "inability to exercise", "low exercise endurance", "poor exercise tolerance" ], "HP:0003547": [ "shoulder girdle muscle weakness", "muscle weakness , shoulder - girdle", "shoulder girdle weakness", "shoulder weakness", "weak shoulder muscle", "weak shoulder muscles" ], "HP:0003695": [ "shoulder girdle muscle weakness", "muscle weakness , shoulder - girdle", "shoulder girdle weakness", "shoulder weakness", "weak shoulder muscle", "weak shoulder muscles" ], "HP:0009009": [ "shoulder girdle muscle weakness", "muscle weakness , shoulder - girdle", "shoulder girdle weakness", "shoulder weakness", "weak shoulder muscle", "weak shoulder muscles" ], "HP:0003548": [ "subsarcolemmal accumulation of abnormally shape mitochondrion", "subsarcolemmal accumulations of abnormally shaped mitochondria" ], "HP:0003549": [ "abnormality of connective tissue" ], "HP:0003550": [ "predominantly low limb lymphedema", "predominantly lower limb lymphedema" ], "HP:0003551": [ "difficulty climb stair", "difficulty climbing stairs", "difficulty walk up stair", "difficulty walking up stairs" ], "HP:0007019": [ "difficulty climb stair", "difficulty climbing stairs", "difficulty walk up stair", "difficulty walking up stairs" ], "HP:0003552": [ "muscle stiffness" ], "HP:0009014": [ "muscle stiffness" ], "HP:0003553": [ "obsolete cellulitis due to immunodeficiency", "cellulitis", "bacterial infection of skin", "skin infection", "skin infections" ], "HP:0003554": [ "type 2 muscle fiber atrophy", "type 2 fiber atrophy", "type 2 fibre atrophy", "type 2 muscle fibre atrophy" ], "HP:0003555": [ "muscle fiber splitting", "fiber splitting", "fibre splitting", "muscle fibre splitting" ], "HP:0003557": [ "increase variability in muscle fiber diameter", "increased variability in muscle fiber diameter", "increase fiber size variation", "increased fiber size variation", "increase fibre size variation", "increased fibre size variation", "increase variability in muscle fiber size", "increased variability in muscle fiber size", "increase variability in muscle fibre diameter", "increased variability in muscle fibre diameter", "increase variability in muscle fibre size", "increased variability in muscle fibre size", "increase variation in fiber size", "increased variation in fiber size", "increase variation in fibre size", "increased variation in fibre size", "increase variation in muscle fiber size", "increased variation in muscle fiber size", "increase variation in muscle fibre size", "increased variation in muscle fibre size", "variation in muscle fiber size", "variation in muscle fibre size" ], "HP:0003556": [ "increase variability in muscle fiber diameter", "increased variability in muscle fiber diameter", "increase fiber size variation", "increased fiber size variation", "increase fibre size variation", "increased fibre size variation", "increase variability in muscle fiber size", "increased variability in muscle fiber size", "increase variability in muscle fibre diameter", "increased variability in muscle fibre diameter", "increase variability in muscle fibre size", "increased variability in muscle fibre size", "increase variation in fiber size", "increased variation in fiber size", "increase variation in fibre size", "increased variation in fibre size", "increase variation in muscle fiber size", "increased variation in muscle fiber size", "increase variation in muscle fibre size", "increased variation in muscle fibre size", "variation in muscle fiber size", "variation in muscle fibre size" ], "HP:0003558": [ "viral infection - induced rhabdomyolysis" ], "HP:0003559": [ "muscle hyperirritability" ], "HP:0003560": [ "muscular dystrophy", "muscle biopsy show dystrophic change", "muscle biopsy shows dystrophic changes" ], "HP:0003544": [ "muscular dystrophy", "muscle biopsy show dystrophic change", "muscle biopsy shows dystrophic changes" ], "HP:0003806": [ "muscular dystrophy", "muscle biopsy show dystrophic change", "muscle biopsy shows dystrophic changes" ], "HP:0003561": [ "birth length less than 3rd percentile", "birth length < 3rd percentile" ], "HP:0003562": [ "abnormal metaphyseal vascular invasion" ], "HP:0003563": [ "decrease ldl cholesterol concentration", "decreased ldl cholesterol concentration", "decrease circulate low - density lipoprotein level", "decreased circulating low - density lipoprotein levels", "decrease ldl", "decreased ldl", "decrease ldlc concentration", "decreased ldlc concentration", "hypobetalipoproteinemia" ], "HP:0003564": [ "folate - dependent fragile site at xq28" ], "HP:0003565": [ "elevate erythrocyte sedimentation rate", "elevated erythrocyte sedimentation rate", "elevate esr", "elevated esr", "elevate sedimentation rate", "elevated sedimentation rate", "high erythrocyte sedimentation rate", "high esr", "increase erythrocyte sedimentation rate", "increased erythrocyte sedimentation rate", "raise erythrocyte sedimentation rate", "raised erythrocyte sedimentation rate" ], "HP:0003566": [ "increase serum prostaglandin e2", "increased serum prostaglandin e2", "elevate prostaglandin e2", "elevated prostaglandin e2" ], "HP:0008298": [ "increase serum prostaglandin e2", "increased serum prostaglandin e2", "elevate prostaglandin e2", "elevated prostaglandin e2" ], "HP:0003568": [ "decrease glucosephosphate isomerase level", "decreased glucosephosphate isomerase level", "decrease glucose phosphate isomerase activity", "decreased glucose phosphate isomerase activity", "glucosephosphate isomerase deficiency", "phosphohexose isomerase deficiency" ], "HP:0003290": [ "decrease glucosephosphate isomerase level", "decreased glucosephosphate isomerase level", "decrease glucose phosphate isomerase activity", "decreased glucose phosphate isomerase activity", "glucosephosphate isomerase deficiency", "phosphohexose isomerase deficiency" ], "HP:0003570": [ "molybdenum cofactor deficiency" ], "HP:0003571": [ "propionic acidemia" ], "HP:0003572": [ "low plasma citrulline" ], "HP:0003573": [ "increase total bilirubin", "increased total bilirubin", "high bili total", "increase bilirubin", "increased bilirubin" ], "HP:0008168": [ "increase total bilirubin", "increased total bilirubin", "high bili total", "increase bilirubin", "increased bilirubin" ], "HP:0003574": [ "positive regitine block test", "positive regitine blocking test" ], "HP:0003575": [ "increase intracellular sodium", "increased intracellular sodium", "high intracellular na", "increase intracellular na+ level", "increased intracellular na+ levels" ], "HP:0003577": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003595": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003601": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003624": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003660": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003666": [ "congenital onset", "intrauterine onset", "onset at birth", "onset in utero", "prenatal onset", "symptom present at birth", "symptoms present at birth" ], "HP:0003581": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003585": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003598": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003627": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003662": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003669": [ "adult onset", "onset in adulthood", "onset in early adulthood", "symptom begin in adulthood", "symptoms begin in adulthood" ], "HP:0003584": [ "late onset" ], "HP:0003587": [ "insidious onset", "gradual onset" ], "HP:0003593": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003576": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003579": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003591": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003594": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003599": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003600": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003629": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003631": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003667": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003672": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0010573": [ "infantile onset", "onset in first year of life", "onset in infancy" ], "HP:0003596": [ "middle age onset" ], "HP:0003606": [ "absent urinary urothione" ], "HP:0003607": [ "4 - hydroxyphenylacetic aciduria" ], "HP:0003609": [ "foam cell with lamellar inclusion body", "foam cells with lamellar inclusion bodies" ], "HP:0003610": [ "fibroblast metachromasia" ], "HP:0003612": [ "positive ferric chloride test", "positive fecl3 test" ], "HP:0003613": [ "antiphospholipid antibody positivity", "antiphospholipid antibody", "antiphospholipid antibodies", "phospholipid antibody positivity" ], "HP:0003614": [ "trimethylaminuria", "high urine trimethylamine level", "high urine trimethylamine levels" ], "HP:0003616": [ "premature separation of centromeric heterochromatin" ], "HP:0003621": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003578": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003580": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003582": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003583": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003589": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003592": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003604": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003619": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003620": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003625": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003659": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003661": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003670": [ "juvenile onset", "sign and symptom begin before 15 year of age", "signs and symptoms begin before 15 years of age" ], "HP:0003623": [ "neonatal onset", "onset in first week of life", "onset in first weeks of life", "onset in neonatal period" ], "HP:0003622": [ "neonatal onset", "onset in first week of life", "onset in first weeks of life", "onset in neonatal period" ], "HP:0003634": [ "amyoplasia", "absent muscle since birth", "absent muscles since birth", "congenital absence of muscle", "congenital absence of muscles" ], "HP:0008990": [ "amyoplasia", "absent muscle since birth", "absent muscles since birth", "congenital absence of muscle", "congenital absence of muscles" ], "HP:0003635": [ "loss of subcutaneous adipose tissue in limb", "loss of subcutaneous adipose tissue in limbs", "loss of fat tissue below the skin in limb", "loss of fat tissue below the skin in limbs", "loss of subcutaneous adipose tissue from extremity", "loss of subcutaneous adipose tissue from extremities" ], "HP:0003757": [ "loss of subcutaneous adipose tissue in limb", "loss of subcutaneous adipose tissue in limbs", "loss of fat tissue below the skin in limb", "loss of fat tissue below the skin in limbs", "loss of subcutaneous adipose tissue from extremity", "loss of subcutaneous adipose tissue from extremities" ], "HP:0003637": [ "reduce 4 - hydroxyphenylpyruvate dioxygenase level", "reduced 4 - hydroxyphenylpyruvate dioxygenase level", "reducted hppd activity" ], "HP:0003639": [ "elevate urinary epinephrine", "elevated urinary epinephrine", "increase urinary epinephrine", "increased urinary epinephrine" ], "HP:0003640": [ "cns foam cell", "cns foam cells" ], "HP:0003641": [ "hemoglobinuria", "haemoglobin in urine", "hemoglobin in urine" ], "HP:0003642": [ "type i transferrin isoform profile", "abnormal isoelectric focusing of serum transferrin , type i pattern", "isoelectric focusing of serum transferrin consistent with cdg type i", "type 1 transferrin isoform profile" ], "HP:0003643": [ "sulfite oxidase deficiency" ], "HP:0003645": [ "prolong partial thromboplastin time", "prolonged partial thromboplastin time", "abnormal partial thromboplastin time", "delay thromboplastin generation", "delayed thromboplastin generation", "partial thromboplastin time prolong", "partial thromboplastin time prolonged", "prolong activate partial thromboplastin time", "prolonged activated partial thromboplastin time", "prolong ptt", "prolonged ptt" ], "HP:0003646": [ "bicarbonaturia", "increase urine bicarbonate concentration", "increased urine bicarbonate concentration", "increase urine hco3 concentration", "increased urine hco3 concentration" ], "HP:0003647": [ "electron transfer flavoprotein - ubiquinone oxidoreductase defect" ], "HP:0003648": [ "lacticaciduria", "high urine lactic acid level", "high urine lactic acid levels", "increase urine lactate", "increased urine lactate" ], "HP:0003649": [ "abnormality of glycoside metabolism" ], "HP:0003651": [ "foam cell", "foam cells", "foamy histiocyte", "foamy histiocytes", "foamy macrophage", "foamy macrophages", "lipid - laden histiocyte", "lipid - laden histiocytes", "presence of foam cell", "presence of foam cells" ], "HP:0003650": [ "foam cell", "foam cells", "foamy histiocyte", "foamy histiocytes", "foamy macrophage", "foamy macrophages", "lipid - laden histiocyte", "lipid - laden histiocytes", "presence of foam cell", "presence of foam cells" ], "HP:0003652": [ "recurrent myoglobinuria", "myoglobinuria , episodic", "myoglobinuria , recurrent" ], "HP:0008313": [ "recurrent myoglobinuria", "myoglobinuria , episodic", "myoglobinuria , recurrent" ], "HP:0003653": [ "cellular metachromasia" ], "HP:0003654": [ "reduce dihydropyrimidine dehydrogenase level", "reduced dihydropyrimidine dehydrogenase level", "dihydropyrimidine dehydrogenase deficiency" ], "HP:0003655": [ "reduce level of n - acetylglucosaminyltransferase ii", "reduced level of n - acetylglucosaminyltransferase ii", "deficient n - acetylglucosaminyltransferase ii" ], "HP:0003656": [ "decrease beta - glucocerebrosidase level", "decreased beta - glucocerebrosidase level", "decrease lysosomal acid glucosylceramidase activity", "decreased lysosomal acid glucosylceramidase activity" ], "HP:0003657": [ "granular osmiophilic deposit ( grod ) in cell", "granular osmiophilic deposits ( grod ) in cells" ], "HP:0003658": [ "hypomethioninemia", "decrease plasma methionine", "decreased plasma methionine", "decrease serum methionine", "decreased serum methionine" ], "HP:0003665": [ "amyotrophy of the musculature of the pelvis" ], "HP:0003674": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003588": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003590": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003597": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003602": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003603": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003618": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003626": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003628": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003630": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003663": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003664": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003668": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0011007": [ "onset", "age of onset", "age symptom begin", "age symptoms begin" ], "HP:0003676": [ "progressive", "progressive disorder", "worsens with time" ], "HP:0003677": [ "slowly progressive", "sign and symptom worsen slowly with time", "signs and symptoms worsen slowly with time", "slow disease progression", "slow progression", "slowly progressive disorder" ], "HP:0003675": [ "slowly progressive", "sign and symptom worsen slowly with time", "signs and symptoms worsen slowly with time", "slow disease progression", "slow progression", "slowly progressive disorder" ], "HP:0003681": [ "slowly progressive", "sign and symptom worsen slowly with time", "signs and symptoms worsen slowly with time", "slow disease progression", "slow progression", "slowly progressive disorder" ], "HP:0003678": [ "rapidly progressive", "rapid progression", "rapidly progressive disorder", "worsen quickly", "worsening quickly" ], "HP:0003679": [ "pace of progression" ], "HP:0003680": [ "nonprogressive", "do not worsen", "does not worsen", "non - progressive", "nonprogressive course", "nonprogressive disorder", "stationary" ], "HP:0003685": [ "nonprogressive", "do not worsen", "does not worsen", "non - progressive", "nonprogressive course", "nonprogressive disorder", "stationary" ], "HP:0003682": [ "variable progression rate" ], "HP:0003683": [ "large beak nose", "large beaked nose" ], "HP:0003687": [ "centrally nucleated skeletal muscle fiber", "centrally nucleated skeletal muscle fibers", "central nucleus", "central nuclei", "centralise nucleus", "centralised nuclei", "centralise sarcomeric nucleus", "centralised sarcomeric nuclei", "centralize nucleus", "centralized nuclei", "centralize sarcomeric nucleus", "centralized sarcomeric nuclei", "centrally nucleated skeletal muscle fibre", "centrally nucleated skeletal muscle fibres" ], "HP:0003688": [ "cytochrome c oxidase - negative muscle fiber", "cytochrome c oxidase - negative muscle fibers", "cytochrome c oxidase deficiency in skeletal muscle", "cytochrome c oxidase - negative muscle fibre", "cytochrome c oxidase - negative muscle fibres", "decreased activity of cytochrome c oxidase in muscle tissue", "decrease skeletal muscle cytochrome c oxidase activity", "decreased skeletal muscle cytochrome c oxidase activity" ], "HP:0003734": [ "cytochrome c oxidase - negative muscle fiber", "cytochrome c oxidase - negative muscle fibers", "cytochrome c oxidase deficiency in skeletal muscle", "cytochrome c oxidase - negative muscle fibre", "cytochrome c oxidase - negative muscle fibres", "decreased activity of cytochrome c oxidase in muscle tissue", "decrease skeletal muscle cytochrome c oxidase activity", "decreased skeletal muscle cytochrome c oxidase activity" ], "HP:0009006": [ "cytochrome c oxidase - negative muscle fiber", "cytochrome c oxidase - negative muscle fibers", "cytochrome c oxidase deficiency in skeletal muscle", "cytochrome c oxidase - negative muscle fibre", "cytochrome c oxidase - negative muscle fibres", "decreased activity of cytochrome c oxidase in muscle tissue", "decrease skeletal muscle cytochrome c oxidase activity", "decreased skeletal muscle cytochrome c oxidase activity" ], "HP:0003689": [ "multiple mitochondrial dna deletion", "multiple mitochondrial dna deletions", "multiple mtdna deletion", "multiple mtdna deletions" ], "HP:0003801": [ "multiple mitochondrial dna deletion", "multiple mitochondrial dna deletions", "multiple mtdna deletion", "multiple mtdna deletions" ], "HP:0003690": [ "limb muscle weakness", "limb weakness" ], "HP:0002534": [ "limb muscle weakness", "limb weakness" ], "HP:0003691": [ "scapular winging", "scapula alata", "scapular weakness", "wing scapula", "winged scapulae", "winged scapulas", "wing shoulder blade", "winged shoulder blade" ], "HP:0000783": [ "scapular winging", "scapula alata", "scapular weakness", "wing scapula", "winged scapulae", "winged scapulas", "wing shoulder blade", "winged shoulder blade" ], "HP:0003693": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0002484": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0002934": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0003486": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0003699": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0006786": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0006864": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0008937": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0008958": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0009015": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0009040": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0009065": [ "distal amyotrophy", "amyotrophy of distal limb muscle", "amyotrophy of distal limb muscles", "distal amyotrophy , especially of the hand and foot", "distal amyotrophy , especially of the hands and feet", "distal limb muscle atrophy", "distal muscle atrophy", "distal muscle atrophy , upper and low limb", "distal muscle atrophy , upper and lower limbs", "distal muscle degeneration", "distal muscle waste", "distal muscle wasting", "distal muscular atrophy", "muscle atrophy , distal" ], "HP:0003694": [ "late - onset proximal muscle weakness" ], "HP:0003696": [ "absent epiphysis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0003697": [ "scapuloperoneal amyotrophy", "scapuloperoneal atrophy" ], "HP:0006920": [ "scapuloperoneal amyotrophy", "scapuloperoneal atrophy" ], "HP:0008957": [ "scapuloperoneal amyotrophy", "scapuloperoneal atrophy" ], "HP:0003698": [ "difficulty stand", "difficulty standing", "difficulty in stand", "difficulty in standing", "stand instability", "standing instability" ], "HP:0003700": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0008977": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0008987": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0008996": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0009043": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0009052": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0009068": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0009074": [ "generalize amyotrophy", "generalized amyotrophy", "diffuse amyotrophy", "diffuse muscle atrophy", "diffuse muscle waste", "diffuse muscle wasting", "diffuse skeletal muscle waste", "diffuse skeletal muscle wasting", "generalise amyotrophy", "generalised amyotrophy", "generalised muscle atrophy", "generalised muscle degeneration", "generalize muscle atrophy", "generalized muscle atrophy", "generalize muscle degeneration", "generalized muscle degeneration", "muscle atrophy , diffuse", "muscle atrophy , generalise", "muscle atrophy , generalised", "muscle atrophy , generalize", "muscle atrophy , generalized", "muscular atrophy , generalise", "muscular atrophy , generalised", "muscular atrophy , generalize", "muscular atrophy , generalized" ], "HP:0003701": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0003432": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0003475": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0007195": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0008950": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0008961": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0008975": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0009033": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0009075": [ "proximal muscle weakness", "muscle weakness , proximal", "proximal limb muscle weakness", "proximal limb weakness", "proximal neurogenic muscle weakness", "weakness in muscle of upper arm and upper leg", "weakness in muscles of upper arms and upper legs" ], "HP:0003704": [ "scapuloperoneal weakness", "neurogenic scapuloperoneal syndrome" ], "HP:0003707": [ "calf muscle pseudohypertrophy", "pseudohypertrophy of the calf", "pseudohypertrophy of the calves" ], "HP:0003710": [ "exercise - induced muscle cramp", "exercise - induced muscle cramps", "exercise - induced muscle cramping", "muscle cramp follow exercise", "muscle cramps following exercise", "muscle cramp on exercise", "muscle cramps on exercise", "muscle cramp on exertion", "muscle cramps on exertion", "muscle cramp with exertion", "muscle cramps with exertion" ], "HP:0008983": [ "exercise - induced muscle cramp", "exercise - induced muscle cramps", "exercise - induced muscle cramping", "muscle cramp follow exercise", "muscle cramps following exercise", "muscle cramp on exercise", "muscle cramps on exercise", "muscle cramp on exertion", "muscle cramps on exertion", "muscle cramp with exertion", "muscle cramps with exertion" ], "HP:0009000": [ "exercise - induced muscle cramp", "exercise - induced muscle cramps", "exercise - induced muscle cramping", "muscle cramp follow exercise", "muscle cramps following exercise", "muscle cramp on exercise", "muscle cramps on exercise", "muscle cramp on exertion", "muscle cramps on exertion", "muscle cramp with exertion", "muscle cramps with exertion" ], "HP:0003712": [ "skeletal muscle hypertrophy", "hypertrophic muscle", "hypertrophic muscles", "increase skeletal muscle cell", "increased skeletal muscle cells", "muscle hypertrophy", "muscular hypertrophy" ], "HP:0003713": [ "muscle fiber necrosis", "muscle fibre necrosis" ], "HP:0003726": [ "muscle fiber necrosis", "muscle fibre necrosis" ], "HP:0003715": [ "myofibrillar myopathy", "myofibrillar change", "myofibrillar changes" ], "HP:0003716": [ "generalize muscular appearance from birth", "generalized muscular appearance from birth", "generalise muscular appearance from birth", "generalised muscular appearance from birth" ], "HP:0003717": [ "minimal subcutaneous fat", "minimal fat below the skin" ], "HP:0003719": [ "muscle mounding" ], "HP:0003720": [ "generalize muscle hypertrophy", "generalized muscle hypertrophy", "generalised increase in muscle cell size", "generalised muscle hypertrophy", "generalized increase in muscle cell size" ], "HP:0003722": [ "neck flexor weakness", "neck flexion weakness", "neck flexor muscle weakness" ], "HP:0000469": [ "neck flexor weakness", "neck flexion weakness", "neck flexor muscle weakness" ], "HP:0003724": [ "shoulder girdle muscle atrophy", "shoulder girdle atrophy", "shoulder girdle muscle waste", "shoulder girdle muscle wasting", "shoulder - girdle muscle atrophy" ], "HP:0003725": [ "firm muscle", "firm muscles" ], "HP:0003729": [ "enteroviral dermatomyositis syndrome" ], "HP:0003730": [ "emg : myotonic run", "emg : myotonic runs", "emg : spontaneous , repetitive electrical activity" ], "HP:0003731": [ "quadriceps muscle weakness", "quadriceps weakness" ], "HP:0003733": [ "thigh hypertrophy", "increase thigh size", "increased thigh size" ], "HP:0003736": [ "autophagic vacuole", "autophagic vacuoles" ], "HP:0003737": [ "mitochondrial myopathy" ], "HP:0008960": [ "mitochondrial myopathy" ], "HP:0003738": [ "exercise - induced myalgia", "exercise - induced muscle pain", "muscle pain on exercise", "muscle pain with exercise", "muscle pain , exercise - induced" ], "HP:0003739": [ "myoclonic spasm", "myoclonic spasms" ], "HP:0006963": [ "myoclonic spasm", "myoclonic spasms" ], "HP:0003740": [ "myotonia with warm - up phenomenon" ], "HP:0003741": [ "congenital muscular dystrophy", "muscular dystrophy , congenital" ], "HP:0003793": [ "congenital muscular dystrophy", "muscular dystrophy , congenital" ], "HP:0003743": [ "genetic anticipation" ], "HP:0003744": [ "genetic anticipation with paternal anticipation bias", "paternal anticipation bias" ], "HP:0003745": [ "sporadic", "isolated case", "isolated cases", "no previous family history" ], "HP:0001420": [ "sporadic", "isolated case", "isolated cases", "no previous family history" ], "HP:0003747": [ "sporadic", "isolated case", "isolated cases", "no previous family history" ], "HP:0003769": [ "sporadic", "isolated case", "isolated cases", "no previous family history" ], "HP:0003749": [ "pelvic girdle muscle weakness", "hip girdle muscle weakness", "hip girdle weakness", "hip - girdle muscle weakness", "pelvic girdle weakness" ], "HP:0003692": [ "pelvic girdle muscle weakness", "hip girdle muscle weakness", "hip girdle weakness", "hip - girdle muscle weakness", "pelvic girdle weakness" ], "HP:0008999": [ "pelvic girdle muscle weakness", "hip girdle muscle weakness", "hip girdle weakness", "hip - girdle muscle weakness", "pelvic girdle weakness" ], "HP:0009036": [ "pelvic girdle muscle weakness", "hip girdle muscle weakness", "hip girdle weakness", "hip - girdle muscle weakness", "pelvic girdle weakness" ], "HP:0003750": [ "increase muscle fatiguability", "increased muscle fatiguability", "muscle fatigue" ], "HP:0003752": [ "episodic flaccid weakness" ], "HP:0003755": [ "type 1 fiber relatively small than type 2 fiber", "type 1 fibers relatively smaller than type 2 fibers", "type 1 fibre relatively small than type 2 fibre", "type 1 fibres relatively smaller than type 2 fibres" ], "HP:0003756": [ "skeletal myopathy" ], "HP:0003758": [ "obsolete decrease subcutaneous fat", "obsolete decreased subcutaneous fat", "reduce subcutaneous adipose tissue", "reduced subcutaneous adipose tissue", "decrease subcutaneous adipose tissue", "decreased subcutaneous adipose tissue", "decrease subcutaneous fat", "decreased subcutaneous fat", "reduce fat tissue below the skin", "reduced fat tissue below the skin", "reduce subcutaneous fat", "reduced subcutaneous fat", "scanty adipose tissue", "obsolete absence of subcutaneous fat over entire body except buttock , hip , and thigh", "obsolete absence of subcutaneous fat over entire body except buttocks , hips , and thighs" ], "HP:0007409": [ "obsolete decrease subcutaneous fat", "obsolete decreased subcutaneous fat", "reduce subcutaneous adipose tissue", "reduced subcutaneous adipose tissue", "decrease subcutaneous adipose tissue", "decreased subcutaneous adipose tissue", "decrease subcutaneous fat", "decreased subcutaneous fat", "reduce fat tissue below the skin", "reduced fat tissue below the skin", "reduce subcutaneous fat", "reduced subcutaneous fat", "scanty adipose tissue", "obsolete absence of subcutaneous fat over entire body except buttock , hip , and thigh", "obsolete absence of subcutaneous fat over entire body except buttocks , hips , and thighs" ], "HP:0003759": [ "hypoplasia of lymphatic vessel", "hypoplasia of lymphatic vessels", "underdeveloped lymphatic vessel", "underdeveloped lymphatic vessels" ], "HP:0003760": [ "percussion - induced rapid roll muscle contraction", "percussion - induced rapid rolling muscle contractions" ], "HP:0003761": [ "calcinosis", "calcium buildup in soft tissue of body", "calcium buildup in soft tissues of body" ], "HP:0003762": [ "uterus didelphys", "double uterus" ], "HP:0003763": [ "bruxism", "teeth grind", "teeth grinding" ], "HP:0003764": [ "nevus", "mole", "naevi", "naevus", "nevi" ], "HP:0003765": [ "psoriasiform dermatitis", "psoriasis" ], "HP:0003768": [ "periodic paralysis", "episodic paralysis" ], "HP:0003771": [ "pulp calcification", "false denticle", "false denticles", "false pulp stone", "false pulp stones", "pulp calcifications", "pulp denticle", "pulp denticles", "pulp stone", "pulp stones", "pulpoliths", "true denticle", "true denticles", "true pulp stone", "true pulp stones" ], "HP:0003774": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0000101": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0004720": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0004725": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0004733": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0004738": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0005570": [ "stage 5 chronic kidney disease", "chronic renal failure", "end stage renal disease", "end stage renal failure", "end - stage renal disease", "end - stage renal failure", "renal failure , endstage" ], "HP:0003777": [ "pili torti", "flatten and twist hair", "flattened and twisted hair" ], "HP:0003778": [ "short mandibular ramus", "short mandibular rami", "decreased height of mandibular ramus", "decreased size of mandibular ramus", "short body and ramus of mandible", "underdeveloped mandibular ramus", "underdeveloped mandibular rami" ], "HP:0005447": [ "short mandibular ramus", "short mandibular rami", "decreased height of mandibular ramus", "decreased size of mandibular ramus", "short body and ramus of mandible", "underdeveloped mandibular ramus", "underdeveloped mandibular rami" ], "HP:0003779": [ "antegonial notching of mandible", "deep antegonial notch of mandible", "large antegonial notch of mandible" ], "HP:0003781": [ "excessive salivation", "excessive production of saliva", "hypersalivation", "mouth watering", "oversalivation", "ptyalism", "watery mouth" ], "HP:0003782": [ "eunuchoid habitus" ], "HP:0003783": [ "externally rotate / abduct leg", "externally rotated / abducted legs" ], "HP:0003784": [ "type 1 collagen overmodification" ], "HP:0003785": [ "decrease csf homovanillic acid", "decreased csf homovanillic acid" ], "HP:0003787": [ "type 1 and type 2 muscle fiber minicore region", "type 1 and type 2 muscle fiber minicore regions", "type 1 and type 2 muscle fibre minicore region", "type 1 and type 2 muscle fibre minicore regions" ], "HP:0003789": [ "minicore myopathy" ], "HP:0003804": [ "minicore myopathy" ], "HP:0003791": [ "deposit immunoreactive to beta - amyloid protein", "deposits immunoreactive to beta - amyloid protein" ], "HP:0003795": [ "short middle phalanx of toe", "short middle bone ( foot )", "short middle bones ( feet )", "short middle phalanges of toes" ], "HP:0003796": [ "irregular iliac crest" ], "HP:0003797": [ "limb - girdle muscle atrophy", "limb - girdle myopathy", "wasting of limb - girdle muscle" ], "HP:0003798": [ "nemaline body", "nemaline bodies", "nemaline rod", "nemaline rods" ], "HP:0003799": [ "mark delay in bone age", "marked delay in bone age", "mark retardation in skeletal maturation", "marked retardation in skeletal maturation", "markedly retard bone age", "markedly retarded bone age" ], "HP:0005742": [ "mark delay in bone age", "marked delay in bone age", "mark retardation in skeletal maturation", "marked retardation in skeletal maturation", "markedly retard bone age", "markedly retarded bone age" ], "HP:0005843": [ "mark delay in bone age", "marked delay in bone age", "mark retardation in skeletal maturation", "marked retardation in skeletal maturation", "markedly retard bone age", "markedly retarded bone age" ], "HP:0003800": [ "muscle abnormality relate to mitochondrial dysfunction", "muscle abnormality related to mitochondrial dysfunction" ], "HP:0003803": [ "type 1 muscle fiber predominance", "type 1 muscle fibre predominance", "type i muscle fiber predominance", "type i muscle fibre predominance" ], "HP:0003721": [ "type 1 muscle fiber predominance", "type 1 muscle fibre predominance", "type i muscle fiber predominance", "type i muscle fibre predominance" ], "HP:0003807": [ "type 1 muscle fiber predominance", "type 1 muscle fibre predominance", "type i muscle fiber predominance", "type i muscle fibre predominance" ], "HP:0003805": [ "rim vacuole", "rimmed vacuoles", "'rimmed vacuole ' on biopsy", "'rimmed vacuoles ' on biopsy", "'rimmed ' vacuole on biopsy", "'rimmed ' vacuoles on biopsy" ], "HP:0009029": [ "rim vacuole", "rimmed vacuoles", "'rimmed vacuole ' on biopsy", "'rimmed vacuoles ' on biopsy", "'rimmed ' vacuole on biopsy", "'rimmed ' vacuoles on biopsy" ], "HP:0003808": [ "abnormal muscle tone" ], "HP:0003809": [ "reduce intrathoracic adipose tissue", "reduced intrathoracic adipose tissue" ], "HP:0003810": [ "late - onset distal muscle weakness" ], "HP:0003728": [ "late - onset distal muscle weakness" ], "HP:0003811": [ "neonatal death", "neonatal lethal" ], "HP:0003820": [ "neonatal death", "neonatal lethal" ], "HP:0003824": [ "neonatal death", "neonatal lethal" ], "HP:0003812": [ "phenotypic variability", "clinical heterogeneity", "highly variable clinical phenotype", "highly variable phenotype", "highly variable phenotype and severity", "highly variable phenotype , even within family", "highly variable phenotype , even within families", "variable phenotype", "variable phenotypic severity" ], "HP:0003813": [ "phenotypic variability", "clinical heterogeneity", "highly variable clinical phenotype", "highly variable phenotype", "highly variable phenotype and severity", "highly variable phenotype , even within family", "highly variable phenotype , even within families", "variable phenotype", "variable phenotypic severity" ], "HP:0003815": [ "phenotypic variability", "clinical heterogeneity", "highly variable clinical phenotype", "highly variable phenotype", "highly variable phenotype and severity", "highly variable phenotype , even within family", "highly variable phenotype , even within families", "variable phenotype", "variable phenotypic severity" ], "HP:0003821": [ "phenotypic variability", "clinical heterogeneity", "highly variable clinical phenotype", "highly variable phenotype", "highly variable phenotype and severity", "highly variable phenotype , even within family", "highly variable phenotype , even within families", "variable phenotype", "variable phenotypic severity" ], "HP:0003822": [ "phenotypic variability", "clinical heterogeneity", "highly variable clinical phenotype", "highly variable phenotype", "highly variable phenotype and severity", "highly variable phenotype , even within family", "highly variable phenotype , even within families", "variable phenotype", "variable phenotypic severity" ], "HP:0003819": [ "death in childhood" ], "HP:0001432": [ "death in childhood" ], "HP:0004149": [ "death in childhood" ], "HP:0003826": [ "stillbirth", "fetal death", "foetal death", "stillborn" ], "HP:0001624": [ "stillbirth", "fetal death", "foetal death", "stillborn" ], "HP:0001625": [ "stillbirth", "fetal death", "foetal death", "stillborn" ], "HP:0003828": [ "variable expressivity", "highly variable severity", "variable severity" ], "HP:0003814": [ "variable expressivity", "highly variable severity", "variable severity" ], "HP:0003825": [ "variable expressivity", "highly variable severity", "variable severity" ], "HP:0003829": [ "incomplete penetrance", "reduce penetrance", "reduced penetrance" ], "HP:0003830": [ "incomplete penetrance", "reduce penetrance", "reduced penetrance" ], "HP:0003831": [ "age - dependent penetrance", "age dependent penetrance" ], "HP:0003832": [ "abnormality of the tibial plateau", "abnormality of the tibial plateaux" ], "HP:0003833": [ "laterally deficient tibial plateau", "laterally deficient tibial plateaux" ], "HP:0003834": [ "shoulder dislocation" ], "HP:0003835": [ "shoulder subluxation", "partial shoulder dislocation" ], "HP:0003836": [ "stipple calcification of the shoulder", "stippled calcification of the shoulder" ], "HP:0003837": [ "soft - tissue ossification around the shoulder", "soft - tissue ossification around the shoulders", "calcification of the soft - tissue around the shoulder", "calcification of the soft - tissue around the shoulders" ], "HP:0003839": [ "abnormality of upper limb epiphysis morphology", "abnormal shape of end part of upper limb long bone", "abnormal shape of end part of upper limb long bones", "abnormality involve the epiphysis of the upper limb", "abnormality involving the epiphyses of the upper limbs", "epihyseal plate abnormality of the upper limb", "epihyseal plate abnormality of the upper limbs" ], "HP:0003845": [ "abnormality of upper limb epiphysis morphology", "abnormal shape of end part of upper limb long bone", "abnormal shape of end part of upper limb long bones", "abnormality involve the epiphysis of the upper limb", "abnormality involving the epiphyses of the upper limbs", "epihyseal plate abnormality of the upper limb", "epihyseal plate abnormality of the upper limbs" ], "HP:0003840": [ "delay upper limb epiphyseal ossification", "delayed upper limb epiphyseal ossification", "delay maturation fo the end part of the upper limb bone", "delayed maturation fo the end part of the upper limb bone" ], "HP:0003841": [ "fragmented epiphysis of the upper limb", "fragmented epiphyses of the upper limbs", "fragmented end part of upper limb bone", "fragmented end part of upper limb bones" ], "HP:0003842": [ "irregular epiphysis of the upper limb", "irregular epiphyses of the upper limbs", "irregular end part of upper limb bone", "irregular end part of upper limb bones" ], "HP:0003843": [ "round epiphysis of the upper limb", "round epiphyses of the upper limbs", "round end part of upper limb bone", "round end part of upper limb bones" ], "HP:0003844": [ "small epiphysis of the upper limb", "small epiphyses of the upper limbs", "small end part of upper limb bone", "small end part of upper limb bones" ], "HP:0003846": [ "wide epiphyseal plate of the upper limb", "wide epiphyseal plates of the upper limbs", "broad epiphyseal plate of the upper limb", "broad epiphyseal plates of the upper limbs", "broad growth plate of upper limb", "broad growth plates of upper limbs" ], "HP:0003848": [ "cupped metaphyses of the upper limb", "cupped metaphyses of the upper limbs", "cup wide portion of the upper limb bone", "cupped wide portion of the upper limb bone" ], "HP:0003849": [ "flare upper limb metaphysis", "flared upper limb metaphysis", "flared metaphyses of the upper limb", "flared metaphyses of the upper limbs", "flare wide portion of the upper limb bone", "flared wide portion of the upper limb bone" ], "HP:0003850": [ "upper - limb metaphyseal irregularity", "irregular metaphyses of the upper limb", "irregular metaphyses of the upper limbs", "irregular wide portion of upper limb bone", "irregular wide portion of upper limb bones" ], "HP:0003851": [ "lytic defect in metaphyses of the upper limb", "lytic defects in metaphyses of the upper limbs" ], "HP:0003852": [ "normal density transverse band in metaphyses of the upper limb", "normal density transverse bands in metaphyses of the upper limbs" ], "HP:0003853": [ "sclerosis with transverse striation in metaphyses of the upper limb", "sclerosis with transverse striations in metaphyses of the upper limbs" ], "HP:0003854": [ "sclerosis of metaphyses of the upper limb", "sclerosis of metaphyses of the upper limbs", "increase bone density in wide portion of the upper limb bone", "increased bone density in wide portion of the upper limb bones" ], "HP:0003855": [ "spurred metaphyses of the upper limb", "spurred metaphyses of the upper limbs", "spur wide portion of upper limb bone", "spurred wide portion of upper limb bone" ], "HP:0003856": [ "upper limb metaphyseal widening", "broad wide portion of upper limb bone", "wide / broad metaphyses of the upper limb", "wide / broad metaphyses of the upper limbs" ], "HP:0003858": [ "cortical diaphyseal irregularity of the upper limb", "cortical diaphyseal irregularity of the upper limbs" ], "HP:0003859": [ "cortical diaphyseal thickening of the upper limb", "cortical diaphyseal thickening of the upper limbs" ], "HP:0003860": [ "diaphyseal sclerosis of the upper limb", "diaphyseal sclerosis of the upper limbs", "increase bone density in central part of long bone of upper limb", "increased bone density in central part of long bone of upper limbs" ], "HP:0003861": [ "broad diaphysis of the upper limb", "broad diaphyses of the upper limbs", "broad shaft of long bone of the upper limb", "broad shaft of long bone of the upper limbs", "wide diaphysis of the upper limb", "wide diaphyses of the upper limbs", "wide shaft of long bone of the upper limb", "wide shaft of long bone of the upper limbs" ], "HP:0003862": [ "absent humerus", "absent long bone in upper arm", "aplasia of the humerus", "aplastic humerus" ], "HP:0003863": [ "angulate humerus", "angulated humerus", "angulate long bone in upper arm", "angulated long bone in upper arm" ], "HP:0003864": [ "bifid humerus", "notch long bone in upper arm", "notched long bone in upper arm" ], "HP:0003865": [ "bow humerus", "bowed humerus", "bow long bone in upper arm", "bowed long bone in upper arm", "bowing of the humerus", "humeral bowing" ], "HP:0003866": [ "coarse humeral trabecula", "coarse humeral trabeculae" ], "HP:0003867": [ "humeral cortical irregularity" ], "HP:0003868": [ "humeral cortical thickening" ], "HP:0003869": [ "humeral cortical thinning" ], "HP:0003870": [ "crumple humerus", "crumpled humerus", "crumple long bone in upper arm", "crumpled long bone in upper arm" ], "HP:0003873": [ "crumple humerus", "crumpled humerus", "crumple long bone in upper arm", "crumpled long bone in upper arm" ], "HP:0003871": [ "deform humerus", "deformed humerus", "deform long bone in upper arm", "deformed long bone in upper arm" ], "HP:0003872": [ "humeral exostosis", "humeral exostoses" ], "HP:0003874": [ "humerus varus" ], "HP:0003875": [ "humeral lytic defect", "humeral lytic defects", "lytic defect of the humerus", "lytic defects of the humerus" ], "HP:0003876": [ "osteoporotic humerus" ], "HP:0003877": [ "oval transradiancy of humerus", "humeral oval transradiancy" ], "HP:0003878": [ "periosteal new bone of humerus" ], "HP:0003879": [ "humeral pseudarthrosis", "false joint ( long bone in upper arm )" ], "HP:0003880": [ "sclerotic focus of the humerus", "sclerotic foci of the humerus", "humeral sclerotic focus", "humeral sclerotic foci" ], "HP:0003881": [ "humeral sclerosis", "increase bone density in long bone of upper arm", "increased bone density in long bone of upper arm", "sclerosis of humerus" ], "HP:0003882": [ "slender humerus", "slender long bone of upper arm" ], "HP:0003883": [ "taper humerus", "tapered humerus", "taper long bone of upper arm", "tapered long bone of upper arm" ], "HP:0003884": [ "triangular humerus", "triangular long bone of upper arm" ], "HP:0003885": [ "undermodeled humerus" ], "HP:0003886": [ "wide humerus", "broad humerus", "wide long bone of upper arm" ], "HP:0003887": [ "abnormality of the humeral head", "abnormality of the humeral heads", "abnormal head of long bone in upper arm" ], "HP:0003888": [ "flatten humeral head", "flattened humeral heads", "flattended head of long bone in upper arm" ], "HP:0003889": [ "abnormality of the deltoid tuberosity", "abnormality of the deltoid tuberosities" ], "HP:0003890": [ "prominent deltoid tuberosity", "prominent deltoid tuberosities" ], "HP:0003891": [ "abnormality of the humeral epiphysis", "abnormality of end part of the long bone of the upper arm", "abnormality of the humeral epiphyses" ], "HP:0003892": [ "absent humeral epiphyseal ossification", "absent maturation of end part of long bone in upper arm", "absent ossification of the humeral epiphysis", "absent ossification of the humeral epiphyses" ], "HP:0003893": [ "advanced ossification of the humeral epiphysis", "accelerate maturation of end part of long bone in upper arm", "accelerated maturation of end part of long bone in upper arm", "advanced maturation of the humeral epiphysis", "advanced maturation of the humeral epiphyses" ], "HP:0003894": [ "delay humeral epiphyseal ossification", "delayed humeral epiphyseal ossification", "delay maturation of the end part of the long bone in upper arm", "delayed maturation of the end part of the long bone in upper arm", "delay maturation / delay ossification of the humeral epiphysis", "delayed maturation / delayed ossification of the humeral epiphyses" ], "HP:0003895": [ "flatten humeral epiphysis", "flattened humeral epiphyses", "flatten end part of long bone in upper arm", "flattened end part of long bone in upper arm" ], "HP:0003896": [ "irregular humeral epiphysis", "irregular humeral epiphyses", "irregular end part of long bone in upper arm" ], "HP:0003897": [ "irregular ossification of the humeral epiphysis", "irregular ossification of the humeral epiphyses", "irregular maturation of the end part of the long bone in upper arm" ], "HP:0003898": [ "large humeral epiphysis", "large humeral epiphyses", "large end part of long bone in upper arm" ], "HP:0003899": [ "round humeral epiphysis", "round humeral epiphyses", "round end part of long bone in upper arm" ], "HP:0003900": [ "small humeral epiphysis", "small humeral epiphyses", "small end part of long bone in upper arm" ], "HP:0003901": [ "stipple calcification of the humeral epiphysis", "stippled calcification of the humeral epiphyses" ], "HP:0003902": [ "epiphyseal stippling of the humerus", "stipple ossification of the humeral epiphysis", "stippled ossification of the humeral epiphyses" ], "HP:0003903": [ "broad humeral epiphysis", "broad humeral epiphyses", "wide end part of long bone in upper arm", "wide humeral epiphysis", "wide humeral epiphyses" ], "HP:0003904": [ "wide epiphysis of the upper limb", "wide epiphyses of the upper limbs", "broad epiphysis of the upper limb", "broad epiphyses of the upper limbs", "wide end part of upper limb bone", "wide end part of upper limb bones" ], "HP:0003905": [ "abnormality of the humeral epiphyseal plate", "abnormality of arm long bone growth plate" ], "HP:0003906": [ "broad humeral epiphyseal plate", "wide humeral epiphyseal plate", "wide long bone of arm growth plate" ], "HP:0003907": [ "abnormality of the humeral metaphyses", "abnormality of the wide portion of the long bone in upper arm" ], "HP:0003908": [ "corner fracture of metaphysis", "bucket handle fracture", "metaphyseal corner fracture" ], "HP:0003909": [ "cortical subperiosteal resorption of humeral metaphyses" ], "HP:0003910": [ "enlarged humeral metaphyses", "enlarge wide portion of long bone of upper arm", "enlarged wide portion of long bone of upper arm", "expand humeral metaphyses", "expanded humeral metaphyses" ], "HP:0003911": [ "flared humeral metaphysis", "flare humerus", "flared humerus", "flare wide portion of long bone of upper arm", "flared wide portion of long bone of upper arm", "wide / broad humeral metaphysis" ], "HP:0003925": [ "flared humeral metaphysis", "flare humerus", "flared humerus", "flare wide portion of long bone of upper arm", "flared wide portion of long bone of upper arm", "wide / broad humeral metaphysis" ], "HP:0003912": [ "frayed humeral metaphyses" ], "HP:0003913": [ "humeral metaphyseal irregularity", "irregular humeral metaphyses", "irregular wide portion of long bone in upper arm" ], "HP:0003914": [ "irregular ossification of humeral metaphyses", "irregular bone maturation of the wide portion of the long bone in upper arm" ], "HP:0003915": [ "lytic defect of the humeral metaphysis", "lytic defects of the humeral metaphysis" ], "HP:0003916": [ "normal - density transverse humeral band", "normal - density transverse humeral bands" ], "HP:0003917": [ "point humeral metaphysis", "pointed humeral metaphysis", "point wide portion of long bone of upper arm", "pointed wide portion of long bone of upper arm" ], "HP:0003918": [ "sclerotic humeral metaphysis", "hardening of wide portion of long bone of upper arm", "stiffening of wide portion of long bone of upper arm" ], "HP:0003919": [ "sclerotic humeral metaphysis with longitudinal striation", "sclerotic humeral metaphysis with longitudinal striations" ], "HP:0003920": [ "slop humeral metaphysis", "sloping humeral metaphysis", "slop metaphysis of long bone of upper arm", "sloping metaphysis of long bone of upper arm" ], "HP:0003921": [ "laterally slop humeral metaphysis", "laterally sloping humeral metaphysis", "laterally slop metaphysis of long bone of upper arm", "laterally sloping metaphysis of long bone of upper arm" ], "HP:0003922": [ "spur humeral metaphysis", "spurred humeral metaphysis", "spur metaphysis of long bone of upper arm", "spurred metaphysis of long bone of upper arm" ], "HP:0003923": [ "square humeral metaphysis", "square metaphysis of long bone of upper arm" ], "HP:0003924": [ "stipple calcification of humeral metaphysis", "stippled calcification of humeral metaphysis", "speckle calcification in metaphysis of long bone of upper arm", "speckled calcification in metaphysis of long bone of upper arm" ], "HP:0003926": [ "abnormality of the humeral diaphysis", "abnormality of shaft of long bone in upper arm" ], "HP:0003927": [ "cortical irregularity of humeral diaphysis" ], "HP:0003928": [ "cortical thickening of humeral diaphysis" ], "HP:0003929": [ "ground glass opacity of humeral diaphysis" ], "HP:0003930": [ "lytic defect of humeral diaphysis", "lytic defects of humeral diaphysis", "humeral diaphyseal lysis" ], "HP:0003931": [ "periosteal new bone of humeral diaphysis" ], "HP:0003932": [ "sclerotic focus of humeral diaphysis", "sclerotic foci of humeral diaphysis" ], "HP:0003933": [ "sclerosis of humeral diaphysis", "increase bone density in shaft of long bone in upper arm", "increased bone density in shaft of long bone in upper arm" ], "HP:0003934": [ "slender humeral diaphysis", "slender shaft of long bone in upper arm" ], "HP:0003935": [ "wide humeral diaphysis", "broad humeral diaphysis", "broad shaft of long bone in upper arm", "wide shaft of long bone in upper arm" ], "HP:0003938": [ "synostosis involve the elbow", "synostosis involving the elbow", "bone fusion involve the elbow", "bone fusion involving the elbow" ], "HP:0003939": [ "humeroulnar synostosis", "humeral ulnar synostosis" ], "HP:0003940": [ "osteoarthritis of the elbow" ], "HP:0003941": [ "stipple calcification of the elbow", "stippled calcification of the elbow" ], "HP:0003942": [ "synovial chondromatosis of the elbow" ], "HP:0003943": [ "abnormality of the joint space of the elbow", "abnormality of the joint spaces of the elbow" ], "HP:0003944": [ "narrow joint space of the elbow", "narrow joint spaces of the elbow" ], "HP:0003945": [ "irregular articular surface of the elbow joint", "irregular articular surfaces of the elbow joints" ], "HP:0003946": [ "abnormality of the epiphysis of the elbow", "abnormality of the epiphyses of the elbow", "abnormality of end part of the elbow bone" ], "HP:0003947": [ "delay elbow epiphyseal ossification", "delayed elbow epiphyseal ossification", "delay maturation of the end part of the elbow bone", "delayed maturation of the end part of the elbow bone" ], "HP:0003948": [ "irregular epiphysis of the elbow", "irregular epiphyses of the elbow", "irregular end part of the elbow bone" ], "HP:0003949": [ "abnormality of the elbow metaphyses", "abnormal wide portion of elbow bone" ], "HP:0003950": [ "flare elbow metaphyses", "flared elbow metaphyses", "flare wide portion of elbow bone", "flared wide portion of elbow bone" ], "HP:0003951": [ "distal humeral metaphyseal irregularity", "irregular metaphyses of elbow", "irregular wide portion of elbow bone" ], "HP:0003952": [ "sclerotic focus of metaphyses of the elbow", "sclerotic foci of metaphyses of the elbow", "vertical linear mixed lucent and sclerotic pattern of metaphyses" ], "HP:0003953": [ "absent forearm bone", "aplasia of the forearm bone", "aplasia of the forearm bones" ], "HP:0003954": [ "angulate forearm bone", "angulated forearm bones" ], "HP:0003955": [ "bone - in - a - bone appearance of forearm" ], "HP:0003956": [ "bow forearm bone", "bowed forearm bones" ], "HP:0003957": [ "cortical thickening of the forearm bone", "cortical thickening of the forearm bones" ], "HP:0003958": [ "cross - fusion of the forearm bone", "cross - fusion of the forearm bones" ], "HP:0003959": [ "deform forearm bone", "deformed forearm bones" ], "HP:0003960": [ "exostosis of the forearm bone", "exostoses of the forearm bones" ], "HP:0003961": [ "fracture forearm bone", "fractured forearm bones", "broken forearm", "fracture of the forearm" ], "HP:0003963": [ "lytic defect of the forearm bone", "lytic defects of the forearm bones" ], "HP:0003964": [ "osteoporotic forearm bone", "osteoporotic forearm bones" ], "HP:0003965": [ "pseudarthrosis of the forearm bone", "pseudarthrosis of the forearm bones" ], "HP:0003966": [ "sclerotic focus in forearm bone", "sclerotic foci in forearm bones" ], "HP:0003967": [ "sclerotic forearm bone", "sclerotic forearm bones", "increase bone density of forearm bone", "increased bone density of forearm bones" ], "HP:0003969": [ "slender forearm bone", "slender forearm bones" ], "HP:0003970": [ "undermodelled forearm bone", "undermodelled forearm bones" ], "HP:0003971": [ "broad forearm bone", "broad forearm bones", "wide forearm bone", "wide forearm bones" ], "HP:0003973": [ "wide radioulnar joint", "wide radioulnar joints", "broad radioulnar joint", "broad radioulnar joints" ], "HP:0003974": [ "absent radius", "absence of radius and ulna", "absent ossification / absence of radius", "aplasia of the radius", "miss outer large bone of forearm", "missing outer large bone of forearm", "radial aplasia" ], "HP:0002819": [ "absent radius", "absence of radius and ulna", "absent ossification / absence of radius", "aplasia of the radius", "miss outer large bone of forearm", "missing outer large bone of forearm", "radial aplasia" ], "HP:0005012": [ "absent radius", "absence of radius and ulna", "absent ossification / absence of radius", "aplasia of the radius", "miss outer large bone of forearm", "missing outer large bone of forearm", "radial aplasia" ], "HP:0003975": [ "obsolete chevron - shape / cone - shape radius", "obsolete chevron - shaped / cone - shaped radius", "cone - shaped distal radial epiphysis", "chevron - shaped distal radial epiphysis" ], "HP:0003976": [ "constrict radius", "constricted radius" ], "HP:0003977": [ "deform radius", "deformed radius" ], "HP:0005046": [ "deform radius", "deformed radius" ], "HP:0003978": [ "fracture radius", "fractured radius" ], "HP:0003979": [ "lytic defect of the radius", "lytic defects of the radius" ], "HP:0003980": [ "pseudarthrosis of the radius" ], "HP:0003981": [ "broad radius", "wide radius" ], "HP:0003982": [ "aplasia of the ulna", "absent ossification / absent ulna", "absent ulna", "absent ulnae" ], "HP:0003984": [ "posteriorly dislocate ulna", "posteriorly dislocated ulna" ], "HP:0003985": [ "exostosis of the ulna", "exostoses of the ulna" ], "HP:0003986": [ "exostosis of the radius", "exostoses of the radius" ], "HP:0003987": [ "fracture ulna", "fractured ulna" ], "HP:0003988": [ "long ulna", "disproportionately long ulna", "disproportionately long ulnae" ], "HP:0006435": [ "long ulna", "disproportionately long ulna", "disproportionately long ulnae" ], "HP:0003989": [ "notch ulna", "notched ulna" ], "HP:0003990": [ "point ulna", "pointed ulna" ], "HP:0003991": [ "osteosclerosis of the ulna", "sclerotic ulna" ], "HP:0003992": [ "slender ulna" ], "HP:0003993": [ "broad ulna", "wide ulna" ], "HP:0200081": [ "broad ulna", "wide ulna" ], "HP:0003994": [ "dislocate wrist", "dislocated wrist", "dislocation of the wrist", "dislocations of the wrists" ], "HP:0004992": [ "dislocate wrist", "dislocated wrist", "dislocation of the wrist", "dislocations of the wrists" ], "HP:0003995": [ "abnormality of the radial head", "deformity of radial head", "deformity of radial heads" ], "HP:0003996": [ "flatten radial head", "flattened radial head" ], "HP:0003997": [ "hypoplastic radial head", "small radial head" ], "HP:0003998": [ "constrict radial neck", "constricted radial neck" ], "HP:0003999": [ "abnormality of radial epiphysis", "abnormality of radial epiphyses", "abnormality of radial epiphyseal plate", "abnormality of radial epiphyseal plates" ], "HP:0004011": [ "abnormality of radial epiphysis", "abnormality of radial epiphyses", "abnormality of radial epiphyseal plate", "abnormality of radial epiphyseal plates" ], "HP:0004000": [ "obsolete chevron - shape / cone - shape radius", "obsolete chevron - shaped / cone - shaped radius", "cone - shaped distal radial epiphysis", "chevron - shaped distal radial epiphysis" ], "HP:0004001": [ "medially deficient radial epiphysis", "medially deficient radial epiphyses" ], "HP:0004002": [ "flatten radial epiphysis", "flattened radial epiphyses" ], "HP:0004003": [ "medially flatten radial epiphysis", "medially flattened radial epiphyses" ], "HP:0004004": [ "irregular radial epiphysis", "irregular radial epiphyses" ], "HP:0004005": [ "large radial epiphysis", "large radial epiphyses" ], "HP:0004006": [ "round radial epiphysis", "round radial epiphyses" ], "HP:0004007": [ "sclerotic radial epiphysis", "sclerotic radial epiphyses" ], "HP:0004008": [ "slop radial epiphysis", "sloping radial epiphyses" ], "HP:0004009": [ "medially slop radial epiphysis", "medially sloping radial epiphyses" ], "HP:0004010": [ "small radial epiphysis", "small radial epiphyses" ], "HP:0004012": [ "premature fusion of the radial epiphyseal plate", "premature fusion of the radial epiphyseal plates" ], "HP:0004013": [ "medially fuse radial epiphyseal plate", "medially fused radial epiphyseal plates" ], "HP:0004014": [ "broad radial epiphyseal plate", "wide radial epiphyseal plate", "wide radial epiphyseal plates" ], "HP:0004015": [ "abnormality of radial metaphyses" ], "HP:0004016": [ "cup radial metaphyses", "cupped radial metaphyses" ], "HP:0004017": [ "exostosis of the radial metaphysis", "exostoses of the radial metaphysis" ], "HP:0004018": [ "flare radial metaphysis", "flared radial metaphysis", "broadening of the distal radius" ], "HP:0004019": [ "radial metaphyseal irregularity", "irregular radial metaphysis" ], "HP:0004020": [ "irregular ossification of the radial metaphysis" ], "HP:0004021": [ "lytic defect of radial metaphysis", "lytic defects of radial metaphysis" ], "HP:0004022": [ "sclerotic radial metaphysis with longitudinal striation", "sclerotic radial metaphysis with longitudinal striations" ], "HP:0004023": [ "slop radial metaphysis", "sloping radial metaphysis" ], "HP:0004024": [ "medially slop radial metaphysis", "medially sloping radial metaphysis" ], "HP:0004025": [ "spur radial metaphysis", "spurred radial metaphysis" ], "HP:0004026": [ "broad radial metaphysis", "wide radial metaphysis" ], "HP:0004027": [ "abnormality of radial diaphysis" ], "HP:0004028": [ "spur of radial diaphysis", "spurs of radial diaphysis" ], "HP:0004029": [ "lytic defect of radial diaphysis", "lytic defects of radial diaphysis" ], "HP:0004030": [ "patchy sclerosis of radial diaphysis" ], "HP:0004031": [ "broad radial diaphysis", "wide radial diaphysis" ], "HP:0004032": [ "abnormality of the olecranon" ], "HP:0004033": [ "curve olecranon", "curved olecranon" ], "HP:0004034": [ "irregular olecranon" ], "HP:0004035": [ "abnormality of the styloid process of ulna" ], "HP:0004036": [ "long styloid process of ulna" ], "HP:0004037": [ "abnormality of the ulnar epiphysis", "abnormality of the ulnar epiphyses", "abnormality of the epiphyseal plate of the ulna" ], "HP:0004038": [ "obsolete bony spicule of ulnar epiphyseal plate" ], "HP:0004039": [ "abnormality of ulnar metaphysis" ], "HP:0004040": [ "corner fragment of ulnar metaphysis", "corner fragments of ulnar metaphysis" ], "HP:0004041": [ "cup ulnar metaphysis", "cupped ulnar metaphysis" ], "HP:0004042": [ "ulnar metaphyseal irregularity", "irregular ulnar metaphysis" ], "HP:0004043": [ "lytic defect of ulnar metaphysis", "lytic defects of ulnar metaphysis" ], "HP:0004044": [ "point ulnar metaphysis", "pointed ulnar metaphysis" ], "HP:0004045": [ "slop ulnar metaphysis", "sloping ulnar metaphysis" ], "HP:0004046": [ "spur ulnar metaphysis", "spurred ulnar metaphysis" ], "HP:0004047": [ "wide ulnar metaphysis", "broad ulnar metaphysis" ], "HP:0004048": [ "narrow joint space of wrist", "narrow joint spaces of wrist" ], "HP:0004049": [ "decrease carpal angle of wrist", "decreased carpal angles of wrist" ], "HP:0004050": [ "absent hand", "acheiria" ], "HP:0004051": [ "advanced ossification of the hand bone", "advanced ossification of the hand bones", "accelerate maturation of hand bone", "accelerated maturation of hand bones", "advanced maturation of the hand bone", "advanced maturation of the hand bones" ], "HP:0004052": [ "delay ossification of the hand bone", "delayed ossification of the hand bones", "delay maturation / delay ossification of the hand", "delay maturation / delayed ossification of the hand", "delay maturation of the hand bone", "delayed maturation of the hand bones" ], "HP:0004053": [ "dysharmonic maturation of the hand bone", "dysharmonic maturation of the hand bones", "disharmonic maturation of the hand bone", "disharmonic maturation of the hand bones", "dysharmonic ossification of the hand bone", "dysharmonic ossification of the hand bones" ], "HP:0006204": [ "dysharmonic maturation of the hand bone", "dysharmonic maturation of the hand bones", "disharmonic maturation of the hand bone", "disharmonic maturation of the hand bones", "dysharmonic ossification of the hand bone", "dysharmonic ossification of the hand bones" ], "HP:0004054": [ "sclerosis of hand bone", "generalised sclerosis of hand bone", "generalised sclerosis of hand bones", "generalized sclerosis of hand bone", "generalized sclerosis of hand bones", "hand bone sclerosis", "increase bone density in hand bone", "increased bone density in hand bone", "increased bone density in hand bones" ], "HP:0004055": [ "sclerosis of hand bone", "generalised sclerosis of hand bone", "generalised sclerosis of hand bones", "generalized sclerosis of hand bone", "generalized sclerosis of hand bones", "hand bone sclerosis", "increase bone density in hand bone", "increased bone density in hand bone", "increased bone density in hand bones" ], "HP:0004057": [ "mitten deformity", "pseudosyndactyly" ], "HP:0004058": [ "hand monodactyly" ], "HP:0004059": [ "radial club hand" ], "HP:0004060": [ "trident hand", "trident abnormality", "trident deformity" ], "HP:0004066": [ "obsolete laterally deviate thumb phalanx", "obsolete laterally deviated thumb phalanges" ], "HP:0004083": [ "obsolete laterally deviate terminal thumb phalanx", "obsolete laterally deviated terminal thumb phalanx" ], "HP:0004090": [ "obsolete advance maturation / advance ossification of terminal thumb phalanx epiphysis", "obsolete advanced maturation / advanced ossification of terminal thumb phalanx epiphysis" ], "HP:0004095": [ "curve finger", "curved fingers" ], "HP:0004097": [ "deviation of finger", "atypical position of finger", "deviate finger", "deviated fingers", "finger point in a different direction than usual", "finger pointing in a different direction than usual" ], "HP:0006229": [ "deviation of finger", "atypical position of finger", "deviate finger", "deviated fingers", "finger point in a different direction than usual", "finger pointing in a different direction than usual" ], "HP:0004099": [ "macrodactyly", "finger overgrowth", "megalodactyly" ], "HP:0004100": [ "abnormal 2nd finger morphology", "abnormality of index finger", "abnormality of the 2nd finger" ], "HP:0004110": [ "obsolete radially deviate index finger phalanx", "obsolete radially deviated index finger phalanges" ], "HP:0004112": [ "midline nasal groove", "central nasal groove" ], "HP:0004121": [ "obsolete radially displace proximal index finger phalanx", "obsolete radially displaced proximal index finger phalanx" ], "HP:0004122": [ "midline defect of the nose", "central cleft of nose", "central defect of nose", "central nasal defect", "midline cleft of nose", "midline nasal defect" ], "HP:0003190": [ "midline defect of the nose", "central cleft of nose", "central defect of nose", "central nasal defect", "midline cleft of nose", "midline nasal defect" ], "HP:0004132": [ "dimple on nasal tip", "dimple tip of nose", "dimpled tip of nose" ], "HP:0004138": [ "obsolete metaphyseal abnormality of middle phalanx of the 2nd finger" ], "HP:0004139": [ "obsolete flare metaphysis of middle phalanx of index finger", "obsolete flared metaphysis of middle phalanx of index finger" ], "HP:0004143": [ "obsolete radially deviate terminal index finger phalanx", "obsolete radially deviated terminal index finger phalanx" ], "HP:0004144": [ "obsolete duplication of terminal index finger phalanx", "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" ], "HP:0004150": [ "abnormal 3rd finger morphology", "abnormality of the 3rd finger", "abnormality of the middle finger" ], "HP:0004153": [ "obsolete overgrowth of middle finger" ], "HP:0004157": [ "obsolete accessory middle - finger phalanx", "obsolete accessory middle - finger phalanges", "duplication of the middle phalanx of the 3rd finger", "duplication of the middle bone of the middle finger", "partial / complete duplication of the middle phalanx of the 3rd finger" ], "HP:0004161": [ "obsolete periosteal new bone of middle finger phalanx", "obsolete periosteal new bone of middle finger phalanges" ], "HP:0004162": [ "obsolete radially point middle finger phalanx", "obsolete radially pointed middle finger phalanges" ], "HP:0004168": [ "obsolete radially point proximal middle - finger phalanx", "obsolete radially pointed proximal middle - finger phalanx" ], "HP:0004172": [ "abnormality of the middle phalanx of the 3rd finger", "abnormal middle finger bone of the middle finger" ], "HP:0004174": [ "obsolete accessory middle phalanx of middle finger", "obsolete accessory middle - finger phalanx", "obsolete accessory middle - finger phalanges", "duplication of the middle phalanx of the 3rd finger", "duplication of the middle bone of the middle finger", "partial / complete duplication of the middle phalanx of the 3rd finger" ], "HP:0004175": [ "obsolete periosteal new bone of middle phalanx of middle - finger" ], "HP:0004180": [ "short distal phalanx of the 3rd finger", "hypoplastic / small distal phalanx of the 3rd finger", "short distal phalanx of the third finger", "short outermost bone of the middle finger", "short terminal phalanx of middle finger" ], "HP:0004182": [ "short distal phalanx of the 3rd finger", "hypoplastic / small distal phalanx of the 3rd finger", "short distal phalanx of the third finger", "short outermost bone of the middle finger", "short terminal phalanx of middle finger" ], "HP:0004183": [ "obsolete abnormality of the epiphysis of the terminal phalanx of the middle finger", "obsolete abnormality of the epiphyses of the terminal phalanx of the middle finger" ], "HP:0004184": [ "obsolete cone - shaped epiphysis of terminal phalanx of the middle finger" ], "HP:0004185": [ "obsolete fuse epiphysis of terminal phalanx of the middle finger", "obsolete fused epiphysis of terminal phalanx of the middle finger" ], "HP:0004186": [ "obsolete large epiphysis of terminal phalanx of the middle finger" ], "HP:0004187": [ "obsolete prematurely fused epiphysis of terminal phalanx of the middle finger" ], "HP:0004188": [ "abnormal 4th finger morphology", "abnormality of the 4th finger", "abnormality of the ring finger" ], "HP:0004192": [ "obsolete bracket epiphysis of the 4th finger", "obsolete bracket epiphyses of the 4th finger", "bracket epiphysis of the 4th finger", "bracket epiphyses of the 4th finger", "bracket shape end part of ring finger bone", "bracket shaped end part of ring finger bones" ], "HP:0004193": [ "obsolete expand phalanx of the ring finger", "obsolete expanded phalanges of the ring finger" ], "HP:0004194": [ "obsolete hypoplastic phalanx of the ring finger", "obsolete hypoplastic phalanges of the ring finger" ], "HP:0004195": [ "osteolytic defect of the phalanx of the 4th finger", "osteolytic defects of the phalanges of the 4th finger", "lytic defect of the phalanx of the ring finger", "lytic defects of the phalanges of the ring finger" ], "HP:0004196": [ "obsolete short phalanx of the ring finger", "obsolete short phalanges of the ring finger" ], "HP:0004197": [ "symphalangism of the 4th finger", "fuse ring finger bone", "fused ring finger bones", "symphalangism of the ring finger" ], "HP:0004198": [ "obsolete wide / broad phalanx of the ring finger", "obsolete wide / broad phalanges of the ring finger" ], "HP:0004201": [ "obsolete expand proximal phalanx of the ring finger", "obsolete expanded proximal phalanx of the ring finger", "broad proximal phalanx of the 4th finger", "broad innermost ring finger bone" ], "HP:0004202": [ "obsolete lytic defect of the proximal phalanx of the ring finger", "obsolete lytic defects of the proximal phalanx of the ring finger", "osteolytic defect of the proximal phalanx of the 4th finger", "osteolytic defects of the proximal phalanx of the 4th finger" ], "HP:0004203": [ "obsolete short proximal phalanx of the ring finger", "aplasia / hypoplasia of the proximal phalanx of the 4th finger", "absent / small innermost ring finger bone", "absent / underdevelop innermost ring finger bone", "absent / underdeveloped innermost ring finger bone" ], "HP:0004207": [ "abnormal 5th finger morphology", "abnormality of the 5th finger", "abnormality of the little finger", "abnormality of the pinkie finger", "abnormality of the pinky finger" ], "HP:0004209": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0001158": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0001588": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0004212": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0006083": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0006181": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0009181": [ "clinodactyly of the 5th finger", "bilateral fifth digit clinodactyly", "bilateral fifth finger clinodactyly", "clinodactyly of fifth digit", "clinodactyly of the little finger", "curvature of little finger", "curvature of pinkie finger", "curvature of pinky finger", "fifth finger clinodactyly", "permanent curving of the pinkie finger" ], "HP:0004213": [ "abnormal 5th finger phalanx morphology", "abnormality of the little finger bone", "abnormality of the phalanx of the 5th finger", "abnormality of the phalanges of the 5th finger", "abnormality of the pinkie finger bone", "abnormality of the pinky finger bone" ], "HP:0004214": [ "curve phalanx of the 5th finger", "curved phalanges of the 5th finger", "curve little finger bone", "curved little finger bone", "curve pinkie finger bone", "curved pinkie finger bone", "curve pinky finger bone", "curved pinky finger bone" ], "HP:0004216": [ "osteolytic defect of the phalanx of the 5th finger", "osteolytic defects of the phalanges of the 5th finger", "lytic defect of the phalanx of the little finger", "lytic defects of the phalanges of the little finger" ], "HP:0004218": [ "symphalangism of the 5th finger", "fifth finger symphalangism", "fuse little finger bone", "fused little finger bones", "fuse pinkie finger bone", "fused pinkie finger bones", "fuse pinky finger bone", "fused pinky finger bones", "symphalagism of the little finger" ], "HP:0004219": [ "abnormality of the middle phalanx of the 5th finger", "abnormality of the middle bone of little finger", "abnormality of the middle bone of pinkie finger", "abnormality of the middle bone of pinky finger" ], "HP:0004220": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0001243": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0003069": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0004221": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0005649": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0005706": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0005734": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0005813": [ "short middle phalanx of the 5th finger", "5th finger middle phalangeal hypoplasia", "brachymesophalangism v", "brachymesophalangy v ( finger )", "fifth finger mid - phalanx hypoplasia", "hypoplastic fifth finger middle phalanx", "hypoplastic middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the little finger", "short middle bone of the little finger", "short middle bone of the pinkie finger", "short middle bone of the pinky finger", "short middle phalanx of the little finger", "type a3 brachydactyly" ], "HP:0004222": [ "cone - shaped epiphysis of the distal phalanx of the 5th finger", "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 pinky finger bone", "cone - shaped epiphysis of the distal phalanx of the little finger" ], "HP:0004223": [ "ivory epiphysis of the distal phalanx of the 5th finger", "increase bone density of end part of the outermost little finger bone", "increased bone density of end part of the outermost little finger bone", "increase bone density of end part of the outermost pinkie finger bone", "increased bone density of end part of the outermost pinkie finger bone", "increase bone density of end part of the outermost pinky finger bone", "increased 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 terminal phalanx of the little finger" ], "HP:0004229": [ "ivory epiphysis of the distal phalanx of the 5th finger", "increase bone density of end part of the outermost little finger bone", "increased bone density of end part of the outermost little finger bone", "increase bone density of end part of the outermost pinkie finger bone", "increased bone density of end part of the outermost pinkie finger bone", "increase bone density of end part of the outermost pinky finger bone", "increased 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 terminal phalanx of the little finger" ], "HP:0004224": [ "abnormality of the epiphysis of the middle phalanx of the 5th finger", "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 pinky finger bone" ], "HP:0004225": [ "abnormality of the distal phalanx of the 5th finger", "abnormality of the distal phalanx of the little finger", "abnormality of the outermost little finger bone", "abnormality of the outermost pinkie finger bone", "abnormality of the outermost pinky finger bone", "abnormality of the terminal phalanx of the little finger" ], "HP:0004226": [ "curve distal phalanx of the 5th finger", "curved distal phalanx of the 5th finger", "curve outermost little finger bone", "curved outermost little finger bone", "curve outermost pinkie finger bone", "curved outermost pinkie finger bone", "curve outermost pinky finger bone", "curved outermost pinky finger bone", "curve terminal phalanx of the little finger", "curved terminal phalanx of the little finger" ], "HP:0004227": [ "short distal phalanx of the 5th finger", "brachytelophalangism v", "fifth digit distal phalangeal hypoplasia", "hypoplastic / small terminal phalanx of the little finger", "short distal phalanx of the fifth finger", "short outermost little finger bone", "short outermost pinkie finger bone", "short outermost pinky finger bone" ], "HP:0006171": [ "short distal phalanx of the 5th finger", "brachytelophalangism v", "fifth digit distal phalangeal hypoplasia", "hypoplastic / small terminal phalanx of the little finger", "short distal phalanx of the fifth finger", "short outermost little finger bone", "short outermost pinkie finger bone", "short outermost pinky finger bone" ], "HP:0004230": [ "subluxation of the proximal interphalangeal joint of the little finger", "partially dislocate innermost hinge joint of little finger", "partially dislocated innermost hinge joint of little finger", "partially dislocate innermost hinge joint of pinkie finger", "partially dislocated innermost hinge joint of pinkie finger", "partially dislocate innermost hinge joint of pinky finger", "partially dislocated innermost hinge joint of pinky finger" ], "HP:0004231": [ "carpal bone aplasia", "absent carpal bone", "absent carpal bones", "absent carpal ossification center", "absent carpal ossification centre", "absent wrist bone", "aplastic carpal bone", "miss wrist bone", "missing wrist bone" ], "HP:0005056": [ "carpal bone aplasia", "absent carpal bone", "absent carpal bones", "absent carpal ossification center", "absent carpal ossification centre", "absent wrist bone", "aplastic carpal bone", "miss wrist bone", "missing wrist bone" ], "HP:0006020": [ "carpal bone aplasia", "absent carpal bone", "absent carpal bones", "absent carpal ossification center", "absent carpal ossification centre", "absent wrist bone", "aplastic carpal bone", "miss wrist bone", "missing wrist bone" ], "HP:0006084": [ "carpal bone aplasia", "absent carpal bone", "absent carpal bones", "absent carpal ossification center", "absent carpal ossification centre", "absent wrist bone", "aplastic carpal bone", "miss wrist bone", "missing wrist bone" ], "HP:0004232": [ "accessory carpal bone", "accessory carpal bones", "extra wrist bone", "extra wrist bones", "supernumerary carpal bone", "supernumerary carpal bones" ], "HP:0004233": [ "advanced ossification of carpal bone", "advanced ossification of carpal bones", "accelerate carpal bone maturation", "accelerated carpal bone maturation", "accelerate wrist bone maturation", "accelerated wrist bone maturation", "advanced carpal bone age", "advanced carpal ossification", "precociously ossify carpal bone", "precociously ossified carpal bones" ], "HP:0006104": [ "advanced ossification of carpal bone", "advanced ossification of carpal bones", "accelerate carpal bone maturation", "accelerated carpal bone maturation", "accelerate wrist bone maturation", "accelerated wrist bone maturation", "advanced carpal bone age", "advanced carpal ossification", "precociously ossify carpal bone", "precociously ossified carpal bones" ], "HP:0004234": [ "bone - in - a - bone appearance of carpal bone", "bone - in - a - bone appearance of carpal bones", "bone - in - a - bone appearance of wrist bone", "bone - in - a - bone appearance of wrist bones" ], "HP:0004235": [ "comma - shape carpal bone", "comma - shaped carpal bones", "comma - shaped wrist bone", "comma - shaped wrist bones" ], "HP:0004236": [ "irregular carpal bone", "irregular carpal bones", "irregular wrist bone", "irregular wrist bones" ], "HP:0004237": [ "large carpal bone", "large carpal bones", "large carpal", "large carpals", "large wrist bone", "large wrist bones" ], "HP:0004238": [ "lytic defect of carpal bone", "lytic defects of carpal bones" ], "HP:0004239": [ "proximally place carpal bone", "proximally placed carpal bones" ], "HP:0004240": [ "sclerotic focus within carpal bone", "sclerotic foci within carpal bones", "harden spot within wrist bone", "hardened spots within wrist bones", "stiffen spot within wrist bone", "stiffened spots within wrist bones" ], "HP:0004241": [ "stipple calcification in carpal bone", "stippled calcification in carpal bones", "punctate calcification of carpal", "punctate calcifications of carpals" ], "HP:0006177": [ "stipple calcification in carpal bone", "stippled calcification in carpal bones", "punctate calcification of carpal", "punctate calcifications of carpals" ], "HP:0004242": [ "broad carpal bone", "broad carpal bones", "wide carpal bone", "wide carpal bones", "wide wrist bone", "wide wrist bones" ], "HP:0004243": [ "abnormality of the scaphoid" ], "HP:0004244": [ "accessory scaphoid" ], "HP:0004245": [ "comma - shape scaphoid", "comma - shaped scaphoid" ], "HP:0004246": [ "delay ossification of the scaphoid", "delayed ossification of the scaphoid", "delay maturation of the scaphoid", "delayed maturation of the scaphoid" ], "HP:0004247": [ "small scaphoid" ], "HP:0004248": [ "abnormality of the lunate bone" ], "HP:0004249": [ "accessory lunate" ], "HP:0004250": [ "proximally place lunate", "proximally placed lunate" ], "HP:0004251": [ "lunate - triquetral fusion", "lunotriquetral synostosis" ], "HP:0004252": [ "abnormality of the trapezium" ], "HP:0004253": [ "absent trapezium", "absent trapezium bone" ], "HP:0004254": [ "delay ossification of the trapezium", "delayed ossification of the trapezium", "delay maturation of the trapezium", "delayed maturation of the trapezium" ], "HP:0004255": [ "small trapezium" ], "HP:0004256": [ "abnormality of the trapezoid bone" ], "HP:0004257": [ "delay ossification of the trapezoid bone", "delayed ossification of the trapezoid bone", "delay maturation of the trapezoid bone", "delayed maturation of the trapezoid bone" ], "HP:0004258": [ "small trapezoid bone" ], "HP:0004259": [ "abnormality of the hamate bone" ], "HP:0004260": [ "large hamate bone", "large unciform bone" ], "HP:0004261": [ "wide hamate bone", "broad hamate bone", "wide unciform bone" ], "HP:0004262": [ "abnormality of the capitate bone" ], "HP:0004263": [ "large capitate bone" ], "HP:0004264": [ "narrow carpal joint space", "narrow carpal joint spaces", "decrease carpal joint angle", "decreased carpal joint angles" ], "HP:0004265": [ "narrow carpal joint space", "narrow carpal joint spaces", "decrease carpal joint angle", "decreased carpal joint angles" ], "HP:0004267": [ "narrow small joint of the hand", "narrow small joints of the hand" ], "HP:0004268": [ "osteoarthritis of the small joint of the hand", "osteoarthritis of the small joints of the hand" ], "HP:0004269": [ "subluxation of the small joint of the hand", "subluxation of the small joints of the hand", "partial dislocation of small joint of hand", "partial dislocation of small joints of hand" ], "HP:0004271": [ "cortical thickening of hand bone", "cortical thickening of hand bones" ], "HP:0004272": [ "cortical thinning of hand bone", "cortical thinning of hand bones" ], "HP:0004273": [ "cupped metaphyses of hand bone", "cupped metaphyses of hand bones", "cupped metaphysis of hand bone", "cupped metaphysis of hand bones", "cup wide portion of hand bone", "cupped wide portion of hand bones" ], "HP:0004274": [ "deficient ossification of hand bone", "deficient ossification of hand bones", "deficient maturation of hand bone", "deficient maturation of hand bones" ], "HP:0004275": [ "duplication of hand bone", "duplication of hand bones" ], "HP:0004276": [ "exostosis of hand bone", "exostoses of hand bones" ], "HP:0004277": [ "fractured hand bone", "fractured hand bones", "broken hand bone", "broken hand bones" ], "HP:0004278": [ "synostosis involve bone of the hand", "synostosis involving bones of the hand", "fused hand bone", "fused hand bones" ], "HP:0004279": [ "short palm", "hypoplastic hand", "hypoplastic hands", "short hand", "short hands", "short palms" ], "HP:0001165": [ "short palm", "hypoplastic hand", "hypoplastic hands", "short hand", "short hands", "short palms" ], "HP:0004280": [ "irregular ossification of hand bone", "irregular ossification of hand bones", "irregular maturation of hand bone", "irregular maturation of hand bones" ], "HP:0004281": [ "irregular sclerosis of hand bone", "irregular sclerosis of hand bones" ], "HP:0004283": [ "narrow palm", "narrow hand", "narrow hands" ], "HP:0004284": [ "notched hand bone", "notched hand bones" ], "HP:0004285": [ "overmodelled hand bone", "overmodelled hand bones" ], "HP:0004286": [ "patchy sclerosis of hand bone", "patchy sclerosis of hand bones", "uneven increase in bone density in hand bone", "uneven increase in bone density in hand bones" ], "HP:0004287": [ "point hand bone", "pointed hand bones" ], "HP:0004288": [ "pseudoepiphyses of hand bone", "pseudoepiphyses of hand bones" ], "HP:0004289": [ "sclerotic focus in hand bone", "sclerotic foci in hand bones" ], "HP:0004290": [ "sclerosis of hand bone with transverse striation", "sclerosis of hand bones with transverse striations" ], "HP:0004291": [ "stipple calcification of hand bone", "stippled calcification of hand bones" ], "HP:0004292": [ "undermodelled hand bone", "undermodelled hand bones" ], "HP:0004293": [ "synostosis of second metacarpal - trapezoid", "fusion of second metacarpal - trapezoid" ], "HP:0004294": [ "subluxation of metacarpal phalangeal joint", "subluxation of metacarpal phalangeal joints", "partial knuckle dislocation", "subluxation of metacarpophalangeal joint", "subluxation of metacarpophalangeal joints" ], "HP:0004295": [ "abnormality of the gastric mucosa", "abnormality of the mucous membrane layer of stomach" ], "HP:0004296": [ "abnormality of gastrointestinal vasculature", "abnormality of gi blood vessel", "abnormality of gi blood vessels", "abnormality of gi vasculature" ], "HP:0004297": [ "abnormality of the biliary system" ], "HP:0004298": [ "abnormality of the abdominal wall", "abnormality of external feature of the abdomen", "abnormality of external features of the abdomen" ], "HP:0001462": [ "abnormality of the abdominal wall", "abnormality of external feature of the abdomen", "abnormality of external features of the abdomen" ], "HP:0004299": [ "hernia of the abdominal wall", "herniated abdominal wall" ], "HP:0004302": [ "functional motor deficit", "functional motor problem", "functional motor problems" ], "HP:0004303": [ "abnormal muscle fiber morphology", "abnormal muscle fibre morphology", "abnormal skeletal muscle fiber morphology", "abnormal skeletal muscle fibre morphology", "abnormality of muscle fiber", "abnormality of muscle fibers", "abnormality of muscle fibre", "abnormality of muscle fibres" ], "HP:0003706": [ "abnormal muscle fiber morphology", "abnormal muscle fibre morphology", "abnormal skeletal muscle fiber morphology", "abnormal skeletal muscle fibre morphology", "abnormality of muscle fiber", "abnormality of muscle fibers", "abnormality of muscle fibre", "abnormality of muscle fibres" ], "HP:0011806": [ "abnormal muscle fiber morphology", "abnormal muscle fibre morphology", "abnormal skeletal muscle fiber morphology", "abnormal skeletal muscle fibre morphology", "abnormality of muscle fiber", "abnormality of muscle fibers", "abnormality of muscle fibre", "abnormality of muscle fibres" ], "HP:0004305": [ "involuntary movement", "involuntary movements", "involuntary muscle contraction", "involuntary muscle contractions" ], "HP:0007120": [ "involuntary movement", "involuntary movements", "involuntary muscle contraction", "involuntary muscle contractions" ], "HP:0004306": [ "abnormal endocardium morphology", "abnormality of the endocardium", "abnormality of the endomycoardium" ], "HP:0005260": [ "abnormal endocardium morphology", "abnormality of the endocardium", "abnormality of the endomycoardium" ], "HP:0004307": [ "abnormal anatomic location of the heart" ], "HP:0004308": [ "ventricular arrhythmia", "ventricular arrhythmias" ], "HP:0004309": [ "ventricular preexcitation", "pre - excitation syndrome", "preexcitation", "ventricular pre - excitation" ], "HP:0006676": [ "ventricular preexcitation", "pre - excitation syndrome", "preexcitation", "ventricular pre - excitation" ], "HP:0004311": [ "abnormal macrophage morphology", "abnormality of histiocyte", "abnormality of histiocytes", "abnormality of macrophage", "abnormality of macrophages" ], "HP:0004310": [ "abnormal macrophage morphology", "abnormality of histiocyte", "abnormality of histiocytes", "abnormality of macrophage", "abnormality of macrophages" ], "HP:0004312": [ "abnormal reticulocyte morphology", "abnormality of reticulocyte", "abnormality of reticulocytes" ], "HP:0004313": [ "decrease circulate antibody level", "decreased circulating antibody level", "decrease antibody level in blood", "decreased antibody level in blood", "decrease immunoglobulin level", "decreased immunoglobulin level", "decrease serum immunoglobulin", "decreased serum immunoglobulin", "hypogammaglobulinemia", "immunoglobulin deficiency", "reduce immunoglobulin level", "reduced immunoglobulin levels" ], "HP:0010703": [ "decrease circulate antibody level", "decreased circulating antibody level", "decrease antibody level in blood", "decreased antibody level in blood", "decrease immunoglobulin level", "decreased immunoglobulin level", "decrease serum immunoglobulin", "decreased serum immunoglobulin", "hypogammaglobulinemia", "immunoglobulin deficiency", "reduce immunoglobulin level", "reduced immunoglobulin levels" ], "HP:0004315": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0003289": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0003294": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0005394": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0008325": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0008340": [ "decrease circulate igg level", "decreased circulating igg level", "decrease gamma - globin expression", "decreased gamma - globin expression", "decrease igg level", "decreased igg level", "decrease igg level in blood", "decreased igg level in blood", "decrease immunoglobulin g", "decreased immunoglobulin g", "decrease serum igg", "decreased serum igg", "igg deficiency", "reduce igg level", "reduced igg levels" ], "HP:0004319": [ "obsolete decrease circulate aldosterone level", "obsolete decreased circulating aldosterone level", "decrease circulate aldosterone level", "decreased circulating aldosterone level", "decrease aldosterone", "decreased aldosterone", "decrease aldosterone production", "decreased aldosterone production", "decrease serum aldosterone", "decreased serum aldosterone", "hypoaldosteronism", "low blood aldosterone level", "mineralocorticoid insufficiency" ], "HP:0000355": [ "decrease circulate aldosterone level", "decreased circulating aldosterone level", "decrease aldosterone", "decreased aldosterone", "decrease aldosterone production", "decreased aldosterone production", "decrease serum aldosterone", "decreased serum aldosterone", "hypoaldosteronism", "low blood aldosterone level", "mineralocorticoid insufficiency" ], "HP:0008184": [ "obsolete decrease circulate aldosterone level", "obsolete decreased circulating aldosterone level", "decrease circulate aldosterone level", "decreased circulating aldosterone level", "decrease aldosterone", "decreased aldosterone", "decrease aldosterone production", "decreased aldosterone production", "decrease serum aldosterone", "decreased serum aldosterone", "hypoaldosteronism", "low blood aldosterone level", "mineralocorticoid insufficiency" ], "HP:0008190": [ "obsolete decrease circulate aldosterone level", "obsolete decreased circulating aldosterone level", "decrease circulate aldosterone level", "decreased circulating aldosterone level", "decrease aldosterone", "decreased aldosterone", "decrease aldosterone production", "decreased aldosterone production", "decrease serum aldosterone", "decreased serum aldosterone", "hypoaldosteronism", "low blood aldosterone level", "mineralocorticoid insufficiency" ], "HP:0004320": [ "vaginal fistula" ], "HP:0004321": [ "bladder fistula" ], "HP:0004322": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0001509": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0003501": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0003507": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0003512": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0003518": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0003519": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0008871": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0008882": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0008888": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0008913": [ "short stature", "decrease body height", "decreased body height", "height less than 3rd percentile", "small stature", "stature below 3rd percentile" ], "HP:0004323": [ "abnormality of body weight", "abnormality of habitus" ], "HP:0010718": [ "abnormality of body weight", "abnormality of habitus" ], "HP:0004324": [ "increase body weight", "increased body weight", "weight gain", "obsolete increase body mass index", "obsolete increased body mass index" ], "HP:0045083": [ "increase body weight", "increased body weight", "weight gain", "obsolete increase body mass index", "obsolete increased body mass index" ], "HP:0004325": [ "decrease body weight", "decreased body weight", "decrease weight", "decreased weight", "low body weight", "low weight", "weight less than 3rd percentile" ], "HP:0001823": [ "decrease body weight", "decreased body weight", "decrease weight", "decreased weight", "low body weight", "low weight", "weight less than 3rd percentile" ], "HP:0001826": [ "decrease body weight", "decreased body weight", "decrease weight", "decreased weight", "low body weight", "low weight", "weight less than 3rd percentile" ], "HP:0004326": [ "cachexia", "waste syndrome", "wasting syndrome" ], "HP:0004327": [ "abnormal vitreous humor morphology", "abnormal vitreous humour morphology" ], "HP:0004328": [ "abnormal anterior eye segment morphology", "abnormal anterior segment morphology", "abnormality of the anterior segment of the eye", "abnormality of the anterior segment of the eyeball", "abnormality of the anterior segment of the globe" ], "HP:0004329": [ "abnormal posterior eye segment morphology", "abnormal morphology of the posterior segment of the globe", "abnormality of the posterior segment of the eye", "abnormality of the posterior segment of the eyeball", "abnormality of the posterior segment of the globe" ], "HP:0004330": [ "increase skull ossification", "increased skull ossification", "hyperossification of skull", "hyperostosis of skull", "increase calcification of skull", "increased calcification of skull", "increase mineralization of skull", "increased mineralization of skull", "sclerosis of bone of skull", "sclerosis of bones of skull", "sclerosis of skull" ], "HP:0004331": [ "decrease skull ossification", "decreased skull ossification", "decrease bone formation of skull", "decreased bone formation of skull", "decreased calcification of skull", "decreased mineralization of skull", "deficient skull ossification", "hypoossification of skull", "ossification defect of skull", "poorly mineralize skull", "poorly mineralized skull", "poorly ossify skull", "poorly ossified skull", "poorly ossify skull bone", "poorly ossified skull bones" ], "HP:0003780": [ "decrease skull ossification", "decreased skull ossification", "decrease bone formation of skull", "decreased bone formation of skull", "decreased calcification of skull", "decreased mineralization of skull", "deficient skull ossification", "hypoossification of skull", "ossification defect of skull", "poorly mineralize skull", "poorly mineralized skull", "poorly ossify skull", "poorly ossified skull", "poorly ossify skull bone", "poorly ossified skull bones" ], "HP:0004332": [ "abnormal lymphocyte morphology", "abnormal lymphocyte", "abnormal lymphocytes", "abnormality of cell of the lymphoid lineage", "abnormality of cells of the lymphoid lineage", "obsolete abnormality of cell of the lymphoid lineage", "obsolete abnormality of cells of the lymphoid lineage" ], "HP:0001887": [ "abnormal lymphocyte morphology", "abnormal lymphocyte", "abnormal lymphocytes", "abnormality of cell of the lymphoid lineage", "abnormality of cells of the lymphoid lineage", "obsolete abnormality of cell of the lymphoid lineage", "obsolete abnormality of cells of the lymphoid lineage" ], "HP:0012140": [ "abnormal lymphocyte morphology", "abnormal lymphocyte", "abnormal lymphocytes", "abnormality of cell of the lymphoid lineage", "abnormality of cells of the lymphoid lineage", "obsolete abnormality of cell of the lymphoid lineage", "obsolete abnormality of cells of the lymphoid lineage" ], "HP:0004333": [ "bone - marrow foam cell", "bone - marrow foam cells", "bone marrow foam cell", "bone marrow foam cells", "large vacuolated foam cell ( 'np cell ' ) on bone marrow biopsy", "large vacuolated foam cells ( 'np cells ' ) on bone marrow biopsy", "large vacuolated foam cell on bone marrow biopsy", "large vacuolated foam cells on bone marrow biopsy" ], "HP:0001979": [ "bone - marrow foam cell", "bone - marrow foam cells", "bone marrow foam cell", "bone marrow foam cells", "large vacuolated foam cell ( 'np cell ' ) on bone marrow biopsy", "large vacuolated foam cells ( 'np cells ' ) on bone marrow biopsy", "large vacuolated foam cell on bone marrow biopsy", "large vacuolated foam cells on bone marrow biopsy" ], "HP:0004334": [ "dermal atrophy", "atrophic skin", "skin atrophy", "skin degeneration" ], "HP:0000985": [ "dermal atrophy", "atrophic skin", "skin atrophy", "skin degeneration" ], "HP:0001077": [ "dermal atrophy", "atrophic skin", "skin atrophy", "skin degeneration" ], "HP:0004336": [ "myelin outfoldings", "excessive focal folding of myelin sheath", "excessive focal folding of myelin sheaths", "irregular myelin folding", "irregular myelin foldings" ], "HP:0003433": [ "myelin outfoldings", "excessive focal folding of myelin sheath", "excessive focal folding of myelin sheaths", "irregular myelin folding", "irregular myelin foldings" ], "HP:0006898": [ "myelin outfoldings", "excessive focal folding of myelin sheath", "excessive focal folding of myelin sheaths", "irregular myelin folding", "irregular myelin foldings" ], "HP:0007290": [ "myelin outfoldings", "excessive focal folding of myelin sheath", "excessive focal folding of myelin sheaths", "irregular myelin folding", "irregular myelin foldings" ], "HP:0004337": [ "abnormality of amino acid metabolism", "amino acid level abnormal", "amino acid levels abnormal" ], "HP:0004338": [ "abnormal circulate aromatic amino acid concentration", "abnormal circulating aromatic amino acid concentration", "abnormality of aromatic amino acid family metabolism" ], "HP:0004339": [ "abnormal circulate sulfur amino acid concentration", "abnormal circulating sulfur amino acid concentration", "abnormal circulate sulphur amino acid concentration", "abnormal circulating sulphur amino acid concentration", "abnormality of sulfur - contain amino acid", "abnormality of sulfur - containing amino acids" ], "HP:0004340": [ "abnormality of vitamin b metabolism", "abnormality of b - vitamin metabolism" ], "HP:0004341": [ "abnormality of vitamin b12 metabolism", "abnormality of the vitamin b12 metabolism" ], "HP:0004342": [ "abnormality of galactoside metabolism" ], "HP:0004343": [ "abnormal glycosphingolipid metabolism", "abnormality of glycosphingolipid metabolism" ], "HP:0004344": [ "abnormality of cerebrosidase metabolism" ], "HP:0004345": [ "ganglioside accumulation" ], "HP:0004347": [ "weakness of muscle of respiration", "weakness of muscles of respiration" ], "HP:0004348": [ "abnormality of bone mineral density", "abnormality of bone mineralisation and ossification" ], "HP:0004349": [ "reduce bone mineral density", "reduced bone mineral density", "decrease bone mineral density", "decreased bone mineral density", "decrease bone mineral density z score", "decreased bone mineral density z score", "low solidness and mass of the bone", "low solidness and mass of the bones" ], "HP:0004352": [ "abnormal circulate purine concentration", "abnormal circulating purine concentration", "abnormal circulate purine level", "abnormal circulating purine level" ], "HP:0004353": [ "abnormal circulate pyrimidine concentration", "abnormal circulating pyrimidine concentration" ], "HP:0004354": [ "abnormal circulate carboxylic acid concentration", "abnormal circulating carboxylic acid concentration" ], "HP:0004356": [ "abnormality of lysosomal metabolism" ], "HP:0004357": [ "abnormal circulate leucine concentration", "abnormal circulating leucine concentration" ], "HP:0004358": [ "abnormality of superoxide metabolism" ], "HP:0004359": [ "abnormal circulate fatty - acid concentration", "abnormal circulating fatty - acid concentration", "abnormality of fatty acid metabolism", "fatty acid abnormal", "fatty acids abnormal" ], "HP:0004360": [ "abnormality of acid - base homeostasis", "acid base imbalance" ], "HP:0004361": [ "abnormality of circulate leptin level", "abnormality of circulating leptin level" ], "HP:0004362": [ "abnormality of enteric ganglion morphology", "abnormality of the enteric ganglion", "abnormality of the enteric ganglia" ], "HP:0002596": [ "abnormality of enteric ganglion morphology", "abnormality of the enteric ganglion", "abnormality of the enteric ganglia" ], "HP:0003283": [ "abnormality of enteric ganglion morphology", "abnormality of the enteric ganglion", "abnormality of the enteric ganglia" ], "HP:0004363": [ "abnormal circulate calcium concentration", "abnormal circulating calcium concentration", "abnormal blood calcium concentration", "abnormal blood calcium level", "abnormal blood calcium levels", "abnormal circulate ca concentration", "abnormal circulating ca concentration", "abnormal circulate ca2+ concentration", "abnormal circulating ca2+ concentration", "obsolete abnormal concentration of calcium in blood" ], "HP:0040077": [ "abnormal circulate calcium concentration", "abnormal circulating calcium concentration", "abnormal blood calcium concentration", "abnormal blood calcium level", "abnormal blood calcium levels", "abnormal circulate ca concentration", "abnormal circulating ca concentration", "abnormal circulate ca2+ concentration", "abnormal circulating ca2+ concentration", "obsolete abnormal concentration of calcium in blood" ], "HP:0004364": [ "abnormal circulate nitrogen compound concentration", "abnormal circulating nitrogen compound concentration" ], "HP:0004365": [ "abnormal circulate tryptophan concentration", "abnormal circulating tryptophan concentration", "abnormality of tryptophan metabolism" ], "HP:0004366": [ "abnormality of glycolysis" ], "HP:0004368": [ "increase circulate purine concentration", "increased circulating purine concentration", "increase purine level", "increased purine level", "increased purine levels" ], "HP:0004369": [ "decrease circulate purine concentration", "decreased circulating purine concentration", "decrease purine level", "decreased purine level", "decreased purine levels" ], "HP:0004370": [ "abnormality of temperature regulation", "body temperature change", "body temperature changes", "poor temperature regulation" ], "HP:0004371": [ "abnormality of glycosaminoglycan metabolism" ], "HP:0004372": [ "reduce consciousness / confusion", "reduced consciousness / confusion", "disturbance of consciousness", "disturbances of consciousness", "lower consciousness", "lowered consciousness" ], "HP:0004373": [ "focal dystonia" ], "HP:0007140": [ "focal dystonia" ], "HP:0004374": [ "hemiplegia / hemiparesis", "paralysis or weakness of one side of body" ], "HP:0004375": [ "neoplasm of the nervous system", "neoplasia of the nervous system", "nervous system cancer", "tumor of the nervous system", "tumour of the nervous system" ], "HP:0004376": [ "neuroblastic tumor", "neuroblastic tumour" ], "HP:0004377": [ "hematological neoplasm", "blood tumor", "blood tumour", "haematological neoplasm" ], "HP:0004378": [ "abnormality of the anus" ], "HP:0004379": [ "abnormality of alkaline phosphatase level", "abnormality of alkaline phosphatase activity", "abnormality of alp level", "alkaline phosphatase abnormal" ], "HP:0004380": [ "aortic valve calcification", "obsolete nodular calcific aortic valve disease", "obsolete calcific aortic valve stenosis" ], "HP:0004759": [ "aortic valve calcification", "obsolete nodular calcific aortic valve disease", "obsolete calcific aortic valve stenosis" ], "HP:0005173": [ "aortic valve calcification", "obsolete nodular calcific aortic valve disease", "obsolete calcific aortic valve stenosis" ], "HP:0004381": [ "supravalvular aortic stenosis" ], "HP:0004382": [ "mitral valve calcification", "obsolete calcific mitral stenosis" ], "HP:0005149": [ "mitral valve calcification", "obsolete calcific mitral stenosis" ], "HP:0200129": [ "mitral valve calcification", "obsolete calcific mitral stenosis" ], "HP:0004383": [ "hypoplastic leave heart", "hypoplastic left heart", "heart leave ventricle hypoplasia", "heart left ventricle hypoplasia", "leave ventricular hypoplasia", "left ventricular hypoplasia", "underdeveloped leave heart", "underdeveloped left heart" ], "HP:0004384": [ "type i truncus arteriosus", "persistent truncus arteriosus type i", "type 1 truncus arteriosus" ], "HP:0004385": [ "protract diarrhea", "protracted diarrhea", "protract diarrhoea", "protracted diarrhoea" ], "HP:0004386": [ "gastrointestinal inflammation", "gi inflammation" ], "HP:0004387": [ "enterocolitis" ], "HP:0004388": [ "microcolon", "microcolon on contrast enema" ], "HP:0004389": [ "intestinal pseudo - obstruction", "intestinal pseudoobstruction" ], "HP:0004390": [ "hamartomatous polyposis", "gastrointestinal hamartoma", "gastrointestinal hamartomatous polyp", "gastrointestinal hamartomatous polyps", "hamartomatous polyp", "hamartomatous polyps" ], "HP:0004392": [ "prune belly" ], "HP:0004394": [ "multiple gastric polyp", "multiple gastric polyps" ], "HP:0004395": [ "malnutrition" ], "HP:0004396": [ "poor appetite", "decrease appetite", "decreased appetite", "loss of appetite", "no appetite" ], "HP:0004397": [ "ectopic anus", "abnormal anus position", "anus malposition" ], "HP:0004398": [ "peptic ulcer", "sore in the lining of gastrointestinal tract" ], "HP:0004399": [ "congenital pyloric atresia" ], "HP:0004400": [ "abnormality of the pylorus" ], "HP:0004401": [ "meconium ileus", "distal intestinal obstruction syndrome", "meconium ileus in neonate", "meconium ileus in neonates", "meconium ileus on ultrasonography" ], "HP:0002610": [ "meconium ileus", "distal intestinal obstruction syndrome", "meconium ileus in neonate", "meconium ileus in neonates", "meconium ileus on ultrasonography" ], "HP:0004402": [ "meconium ileus", "distal intestinal obstruction syndrome", "meconium ileus in neonate", "meconium ileus in neonates", "meconium ileus on ultrasonography" ], "HP:0004403": [ "proximal esophageal atresia" ], "HP:0004404": [ "abnormal nipple morphology", "abnormality of the nipple" ], "HP:0004405": [ "prominent nipple", "prominent nipples" ], "HP:0004406": [ "spontaneous , recurrent epistaxis", "recurrent epistaxes", "recurrent epistaxis", "recur nosebleed", "recurring nosebleed", "spontaneous , recurrent nosebleed" ], "HP:0003684": [ "spontaneous , recurrent epistaxis", "recurrent epistaxes", "recurrent epistaxis", "recur nosebleed", "recurring nosebleed", "spontaneous , recurrent nosebleed" ], "HP:0004407": [ "bony paranasal boss", "bony paranasal bossing" ], "HP:0004408": [ "abnormality of the sense of smell", "abnormal sense of smell", "abnormality of olfaction", "smell defect" ], "HP:0004410": [ "abnormality of the sense of smell", "abnormal sense of smell", "abnormality of olfaction", "smell defect" ], "HP:0004409": [ "hyposmia", "decrease smell sensation", "decreased smell sensation", "sense of smell impair", "sense of smell impaired" ], "HP:0004411": [ "deviate nasal septum", "deviated nasal septum", "crook nasal septum", "crooked nasal septum", "crooked septum of nose", "deviate septum of nose", "deviated septum of nose" ], "HP:0004414": [ "abnormality of the pulmonary artery", "abnormality of lung artery" ], "HP:0004415": [ "pulmonary artery stenosis", "narrowing of lung artery" ], "HP:0004416": [ "precocious atherosclerosis", "premature atherosclerosis", "premature plaque build - up in artery", "premature plaque build - up in arteries" ], "HP:0004417": [ "intermittent claudication" ], "HP:0004418": [ "thrombophlebitis" ], "HP:0004419": [ "recurrent thrombophlebitis", "recurrent phlebitis", "recurrent thrombosis" ], "HP:0004420": [ "arterial thrombosis", "blood clot in artery" ], "HP:0004421": [ "elevate systolic blood pressure", "elevated systolic blood pressure", "elevate systolic bp", "elevated systolic bp" ], "HP:0004956": [ "elevate systolic blood pressure", "elevated systolic blood pressure", "elevate systolic bp", "elevated systolic bp" ], "HP:0004422": [ "biparietal narrowing", "decrease width of the skull", "decreased width of the skull" ], "HP:0004423": [ "cranium bifidum occultum" ], "HP:0004425": [ "flat forehead", "flatten forehead", "flattened forehead", "frontal flattening" ], "HP:0004659": [ "flat forehead", "flatten forehead", "flattened forehead", "frontal flattening" ], "HP:0004426": [ "abnormality of the cheek", "abnormality of the cheeks", "anomaly of the cheek", "anomaly of the cheeks", "deformity of the cheek", "deformity of the cheeks", "malformation of the cheek", "malformation of the cheeks" ], "HP:0004428": [ "elfin facies", "elf - like facial appearance", "elf - like facial feature", "elf - like facial features", "leprechaun facies" ], "HP:0004429": [ "recurrent viral infection", "recurrent viral infections", "obsolete severe viral infection", "obsolete severe viral infections" ], "HP:0005364": [ "recurrent viral infection", "recurrent viral infections", "obsolete severe viral infection", "obsolete severe viral infections" ], "HP:0004430": [ "severe combine immunodeficiency", "severe combined immunodeficiency", "immunodeficiency , severe combine", "immunodeficiency , severe combined" ], "HP:0004431": [ "complement deficiency" ], "HP:0004432": [ "agammaglobulinemia", "agammaglobulinaemia" ], "HP:0008328": [ "agammaglobulinemia", "agammaglobulinaemia" ], "HP:0004433": [ "secretory iga deficiency" ], "HP:0004434": [ "decrease serum complement c8", "decreased serum complement c8", "c8 deficiency" ], "HP:0004437": [ "cranial hyperostosis", "enlargement of skull bone", "enlargement of skull bones", "excessive growth of skull bone", "excessive growth of skull bones", "hyperostosis of cranial bone", "hyperostosis of cranial bones", "hyperostosis of cranial vault", "hypertrophy of cranial bone", "hypertrophy of cranial bones", "increase ossification of cranial bone", "increased ossification of cranial bones", "overgrowth of skull bone", "overgrowth of skull bones", "thick skull bone", "thick skull bones" ], "HP:0002698": [ "cranial hyperostosis", "enlargement of skull bone", "enlargement of skull bones", "excessive growth of skull bone", "excessive growth of skull bones", "hyperostosis of cranial bone", "hyperostosis of cranial bones", "hyperostosis of cranial vault", "hypertrophy of cranial bone", "hypertrophy of cranial bones", "increase ossification of cranial bone", "increased ossification of cranial bones", "overgrowth of skull bone", "overgrowth of skull bones", "thick skull bone", "thick skull bones" ], "HP:0004438": [ "hyperostosis frontalis interna", "enlargement of the inner surface of the frontal bone", "excessive growth of inner surface of the frontal bone", "hyperostosis of the internal surface of the frontal bone", "hypertrophy of the internal surface of the frontal bone", "increase ossification of the internal surface of the frontal bone", "increased ossification of the internal surface of the frontal bone", "overgrowth of the inner surface of the frontal bone", "overgrowth of the inside of the frontal bone", "thick inner surface of the frontal bone", "thick internal surface of the frontal bone" ], "HP:0004439": [ "craniofacial dysostosis", "crouzon syndrome" ], "HP:0004440": [ "coronal craniosynostosis", "coronal suture craniosynostosis", "coronal suture synostosis", "craniosynostosis of coronal suture" ], "HP:0002675": [ "coronal craniosynostosis", "coronal suture craniosynostosis", "coronal suture synostosis", "craniosynostosis of coronal suture" ], "HP:0002685": [ "coronal craniosynostosis", "coronal suture craniosynostosis", "coronal suture synostosis", "craniosynostosis of coronal suture" ], "HP:0002739": [ "coronal craniosynostosis", "coronal suture craniosynostosis", "coronal suture synostosis", "craniosynostosis of coronal suture" ], "HP:0004441": [ "coronal craniosynostosis", "coronal suture craniosynostosis", "coronal suture synostosis", "craniosynostosis of coronal suture" ], "HP:0004442": [ "sagittal craniosynostosis", "craniosynostosis , sagittal", "craniosynostosis , sagittal suture", "early closure of midline skull joint", "midline skull joint close early", "midline skull joint closes early", "sagittal suture synostosis" ], "HP:0004443": [ "lambdoidal craniosynostosis", "lambdoid suture craniosynostosis", "lambdoid suture synostosis" ], "HP:0004486": [ "lambdoidal craniosynostosis", "lambdoid suture craniosynostosis", "lambdoid suture synostosis" ], "HP:0004444": [ "spherocytosis" ], "HP:0004816": [ "spherocytosis" ], "HP:0004445": [ "elliptocytosis", "elliptocyte", "hereditary elliptocytosis", "ovalocytes", "ovalocytosis" ], "HP:0004837": [ "elliptocytosis", "elliptocyte", "hereditary elliptocytosis", "ovalocytes", "ovalocytosis" ], "HP:0004446": [ "stomatocytosis", "erythrocyte stomatocytes", "red cell stomatocytosis" ], "HP:0004801": [ "stomatocytosis", "erythrocyte stomatocytes", "red cell stomatocytosis" ], "HP:0004447": [ "poikilocytosis" ], "HP:0004448": [ "fulminant hepatic failure" ], "HP:0004450": [ "preauricular skin furrow", "preauricular skin furrows", "preauricular skin groove", "preauricular skin sulcus", "skin groove in front of the ear", "skin sulcus in front of the ear" ], "HP:0004451": [ "postauricular skin tag", "postauricular acrochordon", "postauricular fibroepithelial polyp", "skin tag behind the ear" ], "HP:0004452": [ "abnormality of the middle ear ossicle", "abnormality of the middle ear ossicles", "malformed ossicle", "malformed ossicles", "ossicular malformation" ], "HP:0001759": [ "abnormality of the middle ear ossicle", "abnormality of the middle ear ossicles", "malformed ossicle", "malformed ossicles", "ossicular malformation" ], "HP:0004453": [ "overfolding of the superior helix", "overfolding of the superior helices", "overfolding of superior helix" ], "HP:0004454": [ "abnormal middle ear reflex", "abnormal middle ear reflexes" ], "HP:0004458": [ "dilatated internal auditory canal", "bulbous internal auditory canal", "enlarge internal auditory canal", "enlarged internal auditory canal" ], "HP:0004459": [ "exostosis of the external auditory canal", "external auditory canal exostosis", "external auditory canal exostoses" ], "HP:0004461": [ "congenital earlobe sinus", "congenital earlobe sinuses" ], "HP:0004463": [ "absent brainstem auditory response", "absent brainstem auditory responses", "no auditory brainstem response" ], "HP:0004464": [ "postauricular pit", "pit behind the ear", "postauricular earpits", "postauricular fistula", "posterior auricular pit", "posterior auricular sinus" ], "HP:0004466": [ "prolonged brainstem auditory evoke potential", "prolonged brainstem auditory evoked potentials" ], "HP:0004467": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0000392": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0004460": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0005118": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0008552": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0008578": [ "preauricular pit", "ear pit", "pit in front of the ear", "preauricular earpits", "preauricular fistula", "preauricular fistulas", "preauricular pits", "preauricular sinus" ], "HP:0004468": [ "anomalous tracheal cartilage", "abnormal tracheal cartilaginous ring" ], "HP:0004469": [ "chronic bronchitis" ], "HP:0004470": [ "atretic occipital cephalocele" ], "HP:0004471": [ "aplasia cutis congenita over the scalp vertex", "absent cutis congenita of vertex", "aplasia cutis congenita of vertex" ], "HP:0004472": [ "mandibular hyperostosis", "excessive growth of mandibular bone", "hyperostosis of low jaw", "hyperostosis of lower jaw", "hyperostosis of mandibular bone", "increase ossification of low jaw", "increased ossification of lower jaw", "increase ossification of mandible", "increased ossification of mandible", "increase ossification of mandibular bone", "increased ossification of mandibular bone", "overgrowth of mandibular bone", "thick low jaw bone", "thick lower jaw bone", "thick mandibular bone" ], "HP:0004474": [ "persistent open anterior fontanelle", "anterior fontanelle open in adult", "anterior fontanelle open in adults", "front fontanelle stay open", "front fontanelle stays open", "persistent , open anterior fontanel" ], "HP:0004475": [ "persistent open anterior fontanelle", "anterior fontanelle open in adult", "anterior fontanelle open in adults", "front fontanelle stay open", "front fontanelle stays open", "persistent , open anterior fontanel" ], "HP:0004483": [ "persistent open anterior fontanelle", "anterior fontanelle open in adult", "anterior fontanelle open in adults", "front fontanelle stay open", "front fontanelle stays open", "persistent , open anterior fontanel" ], "HP:0004476": [ "aplasia cutis congenita over parietal area", "absent cutis congenita over parietal area" ], "HP:0004478": [ "ethmoidal encephalocele" ], "HP:0004481": [ "progressive macrocephaly", "macrocephaly , progressive", "progressively abnormally enlarge cranium", "progressively abnormally enlarging cranium", "progressively abnormally enlarge skull", "progressively abnormally enlarging skull" ], "HP:0000261": [ "progressive macrocephaly", "macrocephaly , progressive", "progressively abnormally enlarge cranium", "progressively abnormally enlarging cranium", "progressively abnormally enlarge skull", "progressively abnormally enlarging skull" ], "HP:0004482": [ "relative macrocephaly", "disproportionately large head", "macrocephaly , relative", "relatively large head" ], "HP:0000257": [ "relative macrocephaly", "disproportionately large head", "macrocephaly , relative", "relatively large head" ], "HP:0001364": [ "relative macrocephaly", "disproportionately large head", "macrocephaly , relative", "relatively large head" ], "HP:0004484": [ "craniofacial asymmetry", "abnormality of craniofacial shape", "malformation of craniofacial shape", "uneven craniofacial structure", "uneven craniofacial structures" ], "HP:0004485": [ "cessation of head growth", "cranium stop grow", "cranium stopped growing", "head stop grow", "head stopped growing", "skull stop grow", "skull stopped growing" ], "HP:0004487": [ "acrobrachycephaly" ], "HP:0004488": [ "macrocephaly at birth", "big cranium present at birth", "big cranium present since birth", "big head present at birth", "big head present since birth", "big skull present at birth", "big skull present since birth", "congenital large cranium", "congenital large head", "congenital large skull", "congenital macrocephaly", "head circumference large for gestational age", "large cranium present at birth", "large cranium present since birth", "large head present at birth", "large head present since birth", "large skull present at birth", "large skull present since birth" ], "HP:0004490": [ "calvarial hyperostosis", "enlargement of calvarial bone", "enlargement of calvarial bones", "excessive growth of calvarial bone", "excessive growth of calvarial bones", "hyperostosis of calvarial bone", "hyperostosis of calvarial bones", "hypertrophy of calvarial bone", "hypertrophy of calvarial bones", "increase ossification of calvarial bone", "increased ossification of calvarial bones", "overgrowth of calvarial bone", "overgrowth of calvarial bones", "overgrowth of skullcap", "thick calvarial bone", "thick calvarial bones" ], "HP:0004491": [ "large posterior fontanelle", "large posterior fontanel" ], "HP:0004492": [ "widely patent fontanelle and suture", "widely patent fontanelles and sutures", "widely patent fontanel and suture", "widely patent fontanels and sutures" ], "HP:0002646": [ "widely patent fontanelle and suture", "widely patent fontanelles and sutures", "widely patent fontanel and suture", "widely patent fontanels and sutures" ], "HP:0005492": [ "widely patent fontanelle and suture", "widely patent fontanelles and sutures", "widely patent fontanel and suture", "widely patent fontanels and sutures" ], "HP:0004493": [ "craniofacial hyperostosis", "enlargement of craniofacial bone", "enlargement of craniofacial bones", "excessive bone growth of the skull and face", "excessive growth of craniofacial bone", "excessive growth of craniofacial bones", "hyperostosis of craniofacial bone", "hyperostosis of craniofacial bones", "hypertrophy of craniofacial bone", "hypertrophy of craniofacial bones", "increase ossification of craniofacial bone", "increased ossification of craniofacial bones", "overgrowth of craniofacial bone", "overgrowth of craniofacial bones", "thick craniofacial bone", "thick craniofacial bones" ], "HP:0004495": [ "thin anteverted naris", "thin anteverted nares" ], "HP:0004496": [ "posterior choanal atresia" ], "HP:0004499": [ "chronic rhinitis due to narrow nasal airway", "chronic nasal inflammation due to narrow nasal airway" ], "HP:0004502": [ "bilateral choanal atresia", "bilateral blockage of the rear opening of the nasal cavity", "bilateral obstruction of the rear opening of the nasal cavity" ], "HP:0004510": [ "pancreatic islet - cell hyperplasia", "hyperplastic islet of langerhans", "hyperplastic islets of langerhans", "hypertrophic pancreatic islet", "hypertrophic pancreatic islets", "islet of langerhans hyperplasia", "islet of langerhans hypertrophy", "islets of langerhans hypertrophy", "pancreatic islet - cell hypertrophy" ], "HP:0001736": [ "pancreatic islet - cell hyperplasia", "hyperplastic islet of langerhans", "hyperplastic islets of langerhans", "hypertrophic pancreatic islet", "hypertrophic pancreatic islets", "islet of langerhans hyperplasia", "islet of langerhans hypertrophy", "islets of langerhans hypertrophy", "pancreatic islet - cell hypertrophy" ], "HP:0006275": [ "pancreatic islet - cell hyperplasia", "hyperplastic islet of langerhans", "hyperplastic islets of langerhans", "hypertrophic pancreatic islet", "hypertrophic pancreatic islets", "islet of langerhans hyperplasia", "islet of langerhans hypertrophy", "islets of langerhans hypertrophy", "pancreatic islet - cell hypertrophy" ], "HP:0004523": [ "long eyebrow", "long eyebrows", "elongate eyebrow", "elongated eyebrow", "increase horizontal length of eyebrow", "increased horizontal length of eyebrow", "increased transverse length of eyebrow" ], "HP:0004524": [ "temporal hypotrichosis", "reduce hair growth in temporal region", "reduced hair growth in temporal region" ], "HP:0004527": [ "large clump of pigment irregularly distribute along hair shaft", "large clumps of pigment irregularly distributed along hair shaft" ], "HP:0004528": [ "generalize hypotrichosis", "generalized hypotrichosis", "generalise hypotrichosis", "generalised hypotrichosis", "hypotrichosis , generalise", "hypotrichosis , generalised", "hypotrichosis , generalize", "hypotrichosis , generalized" ], "HP:0004513": [ "generalize hypotrichosis", "generalized hypotrichosis", "generalise hypotrichosis", "generalised hypotrichosis", "hypotrichosis , generalise", "hypotrichosis , generalised", "hypotrichosis , generalize", "hypotrichosis , generalized" ], "HP:0004529": [ "atrophic , patchy alopecia" ], "HP:0004532": [ "sacral hypertrichosis" ], "HP:0004535": [ "anterior cervical hypertrichosis", "congenital cervical hypertrichosis", "hypertrichosis , congenital anterior cervical" ], "HP:0004517": [ "anterior cervical hypertrichosis", "congenital cervical hypertrichosis", "hypertrichosis , congenital anterior cervical" ], "HP:0004773": [ "anterior cervical hypertrichosis", "congenital cervical hypertrichosis", "hypertrichosis , congenital anterior cervical" ], "HP:0004540": [ "congenital , generalize hypertrichosis", "congenital , generalized hypertrichosis", "congenital generalise hypertrichosis", "congenital generalised hypertrichosis", "congenital generalize hypertrichosis", "congenital generalized hypertrichosis", "congenital , generalise hypertrichosis", "congenital , generalised hypertrichosis", "hypertrichosis universalis" ], "HP:0004547": [ "congenital , generalize hypertrichosis", "congenital , generalized hypertrichosis", "congenital generalise hypertrichosis", "congenital generalised hypertrichosis", "congenital generalize hypertrichosis", "congenital generalized hypertrichosis", "congenital , generalise hypertrichosis", "congenital , generalised hypertrichosis", "hypertrichosis universalis" ], "HP:0004769": [ "congenital , generalize hypertrichosis", "congenital , generalized hypertrichosis", "congenital generalise hypertrichosis", "congenital generalised hypertrichosis", "congenital generalize hypertrichosis", "congenital generalized hypertrichosis", "congenital , generalise hypertrichosis", "congenital , generalised hypertrichosis", "hypertrichosis universalis" ], "HP:0004552": [ "scar alopecia of scalp", "scarring alopecia of scalp", "cicatricial alopecia", "hair loss on scalp from scar condition", "hair loss on scalp from scarring condition" ], "HP:0004554": [ "generalize hypertrichosis", "generalized hypertrichosis", "generalise hypertrichosis", "generalised hypertrichosis" ], "HP:0004543": [ "generalize hypertrichosis", "generalized hypertrichosis", "generalise hypertrichosis", "generalised hypertrichosis" ], "HP:0004766": [ "generalize hypertrichosis", "generalized hypertrichosis", "generalise hypertrichosis", "generalised hypertrichosis" ], "HP:0004557": [ "anterior vertebral fusion" ], "HP:0004558": [ "cervical platyspondyly", "flatten cervical vertebral body", "flattened cervical vertebral bodies" ], "HP:0005641": [ "cervical platyspondyly", "flatten cervical vertebral body", "flattened cervical vertebral bodies" ], "HP:0004562": [ "beaking of vertebral body t12 - l3", "beaking of vertebral bodies t12 - l3" ], "HP:0004563": [ "increase spinal bone density", "increased spinal bone density", "compact spinal bone", "concrete spinal bone", "dense spinal bone", "eburnation of spinal bone", "increase density of spinal bone", "increased density of spinal bone", "increase spinal bone density z", "increased spinal bone density z", "ivory spinal bone", "sclerosis of spinal bone" ], "HP:0004565": [ "severe platyspondyly", "platyspondyly , extreme" ], "HP:0004564": [ "severe platyspondyly", "platyspondyly , extreme" ], "HP:0004566": [ "pear - shape vertebra", "pear - shaped vertebrae", "pear - shaped vertebral body", "pear - shaped vertebral bodies" ], "HP:0004568": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0003313": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0003315": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0004569": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0004577": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0004584": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0005122": [ "beaking of vertebral body", "beaking of vertebral bodies", "anterior beak", "anterior beaking", "anterior beaking of vertebra", "anterior beaking of vertebrae", "anterior beaking of vertebral body", "anterior beaking of vertebral bodies", "beak vertebral body", "beaked vertebral bodies", "vertebral tongue - like protrusion" ], "HP:0004570": [ "increase vertebral height", "increased vertebral height", "tall vertebral body", "tall vertebral bodies" ], "HP:0005693": [ "increase vertebral height", "increased vertebral height", "tall vertebral body", "tall vertebral bodies" ], "HP:0004571": [ "widening of cervical spinal canal" ], "HP:0004573": [ "anterior wedging of t11", "anterior wedging of the 11th thoracic vertebra", "wedge - shape 11th thoracic vertebra", "wedge - shaped 11th thoracic vertebra" ], "HP:0004575": [ "fusion of midcervical facet joint", "fusion of midcervical facet joints" ], "HP:0004576": [ "sclerotic vertebral endplate", "sclerotic vertebral endplates", "endplate sclerosis" ], "HP:0004580": [ "anterior scalloping of vertebral body", "anterior scalloping of vertebral bodies", "anterior scallop vertebral body", "anterior scalloping vertebral bodies" ], "HP:0004581": [ "increase anterior vertebral height", "increased anterior vertebral height" ], "HP:0004582": [ "irregularity of vertebral body", "irregularity of vertebral bodies" ], "HP:0004586": [ "biconcave vertebral body", "biconcave vertebral bodies", "biconcave 'codfish ' vertebra", "biconcave 'codfish ' vertebrae", "biconcave vertebra", "biconcave vertebrae", "codfish vertebra", "codfish vertebrae", "fish vertebra", "fish vertebrae", "scalloping of vertebral body", "scalloping of vertebral bodies" ], "HP:0002952": [ "biconcave vertebral body", "biconcave vertebral bodies", "biconcave 'codfish ' vertebra", "biconcave 'codfish ' vertebrae", "biconcave vertebra", "biconcave vertebrae", "codfish vertebra", "codfish vertebrae", "fish vertebra", "fish vertebrae", "scalloping of vertebral body", "scalloping of vertebral bodies" ], "HP:0004561": [ "biconcave vertebral body", "biconcave vertebral bodies", "biconcave 'codfish ' vertebra", "biconcave 'codfish ' vertebrae", "biconcave vertebra", "biconcave vertebrae", "codfish vertebra", "codfish vertebrae", "fish vertebra", "fish vertebrae", "scalloping of vertebral body", "scalloping of vertebral bodies" ], "HP:0004620": [ "biconcave vertebral body", "biconcave vertebral bodies", "biconcave 'codfish ' vertebra", "biconcave 'codfish ' vertebrae", "biconcave vertebra", "biconcave vertebrae", "codfish vertebra", "codfish vertebrae", "fish vertebra", "fish vertebrae", "scalloping of vertebral body", "scalloping of vertebral bodies" ], "HP:0004589": [ "dysplasia of second lumbar vertebra" ], "HP:0004590": [ "hypoplastic sacrum", "small sacrum" ], "HP:0004591": [ "disc - like vertebral body", "disc - like vertebral bodies" ], "HP:0004592": [ "thoracic platyspondyly" ], "HP:0004594": [ "hump - shape mound of bone in central and posterior portion of vertebral endplate", "hump - shaped mound of bone in central and posterior portions of vertebral endplate" ], "HP:0004598": [ "supernumerary vertebral ossification center", "supernumerary vertebral ossification centers", "supernumerary vertebral ossification centre", "supernumerary vertebral ossification centres" ], "HP:0004599": [ "absent or minimally ossified vertebral body", "absent or minimally ossified vertebral bodies" ], "HP:0004601": [ "spina bifida occulta at l5" ], "HP:0004602": [ "cervical c2 / c3 vertebral fusion", "fusion of cervical vertebra c2 - 3", "fusion of cervical vertebrae c2 - 3", "klippel - feil anomaly", "klippel - feil syndrome" ], "HP:0004636": [ "cervical c2 / c3 vertebral fusion", "fusion of cervical vertebra c2 - 3", "fusion of cervical vertebrae c2 - 3", "klippel - feil anomaly", "klippel - feil syndrome" ], "HP:0004603": [ "hyperconvex vertebral body endplate", "hyperconvex vertebral body endplates" ], "HP:0004605": [ "absent vertebral body mineralization" ], "HP:0004606": [ "unossified vertebral body", "unossified vertebral bodies" ], "HP:0008427": [ "unossified vertebral body", "unossified vertebral bodies" ], "HP:0004607": [ "anterior beaking of low thoracic vertebra", "anterior beaking of lower thoracic vertebrae" ], "HP:0004608": [ "anteriorly place odontoid process", "anteriorly placed odontoid process" ], "HP:0004609": [ "patchy distortion of vertebra", "patchy distortion of vertebrae" ], "HP:0004610": [ "lumbar spinal canal stenosis", "lumbar spinal stenosis", "narrow lumbar spinal canal" ], "HP:0004611": [ "anterior concavity of thoracic vertebra", "anterior concavity of thoracic vertebrae", "anteriorly concave vertebra", "anteriorly concave vertebrae" ], "HP:0004614": [ "spina bifida occulta at s1" ], "HP:0004616": [ "cleft vertebral arch", "cleft vertebral arches" ], "HP:0004617": [ "butterfly vertebral arch" ], "HP:0004618": [ "sandwich appearance of vertebral body", "sandwich appearance of vertebral bodies" ], "HP:0004619": [ "lumbar kyphoscoliosis" ], "HP:0004621": [ "enlarged vertebral pedicle", "enlarged vertebral pedicles", "hyperplastic vertebral pedicle", "hyperplastic vertebral pedicles" ], "HP:0004622": [ "progressive intervertebral space narrowing" ], "HP:0004625": [ "biconvex vertebral body", "biconvex vertebral bodies" ], "HP:0004626": [ "lumbar scoliosis" ], "HP:0004629": [ "small cervical vertebral body", "small cervical vertebral bodies", "small cervical vertebra", "small cervical vertebrae" ], "HP:0008429": [ "small cervical vertebral body", "small cervical vertebral bodies", "small cervical vertebra", "small cervical vertebrae" ], "HP:0004630": [ "anterior beaking of thoracic vertebra", "anterior beaking of thoracic vertebrae" ], "HP:0004631": [ "decreased cervical spine flexion due to contracture of posterior cervical muscle", "decreased cervical spine flexion due to contractures of posterior cervical muscles", "contracture of post - cervical muscle", "contracture of post - cervical muscles", "inability to touch chin to chest" ], "HP:0004632": [ "cervical segmentation defect", "cervical spine segmentation defect" ], "HP:0004612": [ "cervical segmentation defect", "cervical spine segmentation defect" ], "HP:0004633": [ "low thoracic kyphosis", "lower thoracic kyphosis", "round mid - back" ], "HP:0004634": [ "cuboid - shaped vertebral body", "cuboid - shaped vertebral bodies", "cuboid vertebral body", "cuboid vertebral bodies" ], "HP:0004635": [ "cervical c5 / c6 vertebra fusion", "cervical c5 / c6 vertebrae fusion" ], "HP:0004637": [ "decreased cervical spine mobility", "limited neck movement" ], "HP:0004639": [ "elevate amniotic fluid alpha - fetoprotein", "elevated amniotic fluid alpha - fetoprotein", "elevate amniotic fluid alpha fetal protein", "elevated amniotic fluid alpha fetal protein", "elevate amniotic fluid alpha foetal protein", "elevated amniotic fluid alpha foetal protein", "elevate amniotic fluid alpha - 1 - fetoprotein", "elevated amniotic fluid alpha - 1 - fetoprotein", "elevate amniotic fluid alpha - fetoglobulin", "elevated amniotic fluid alpha - fetoglobulin" ], "HP:0005985": [ "elevate amniotic fluid alpha - fetoprotein", "elevated amniotic fluid alpha - fetoprotein", "elevate amniotic fluid alpha fetal protein", "elevated amniotic fluid alpha fetal protein", "elevate amniotic fluid alpha foetal protein", "elevated amniotic fluid alpha foetal protein", "elevate amniotic fluid alpha - 1 - fetoprotein", "elevated amniotic fluid alpha - 1 - fetoprotein", "elevate amniotic fluid alpha - fetoglobulin", "elevated amniotic fluid alpha - fetoglobulin" ], "HP:0004646": [ "hypoplasia of the nasal bone", "decreased size of nasal bone", "deficiency of nasal bone", "hypotrophic nasal bone", "nasal bone hypoplasia", "small nasal bone", "underdevelopment of nasal bone" ], "HP:0004660": [ "hypoplasia of facial musculature", "atrophy of facial musculature", "decreased size of facial muscle", "decreased size of facial muscles", "deficiency of facial musculature", "hypotrophic facial musculature", "small facial muscle", "small facial muscles", "underdevelopment of facial muscle", "underdevelopment of facial muscles" ], "HP:0004661": [ "frontalis muscle weakness", "weak frontalis muscle", "weakness of forehead muscle" ], "HP:0004664": [ "facial midline hemangioma" ], "HP:0004673": [ "decrease facial expression", "decreased facial expression" ], "HP:0004676": [ "prominent supraorbital arch in adult", "prominent supraorbital arches in adult" ], "HP:0004679": [ "large tarsal bone", "large tarsal bones", "large ankle bone", "large ankle bones" ], "HP:0004681": [ "deep longitudinal plantar crease", "foot crease", "longitudinal groove on sol", "longitudinal groove on soles" ], "HP:0004684": [ "talipes valgus" ], "HP:0004686": [ "short third metatarsal", "hypoplasia of the 3rd metatarsal bone", "short 3rd long bone of foot" ], "HP:0010673": [ "short third metatarsal", "hypoplasia of the 3rd metatarsal bone", "short 3rd long bone of foot" ], "HP:0004688": [ "irregular tarsal bone", "irregular tarsal bones", "abnormal shape of ankle bone", "abnormal shape of ankle bones" ], "HP:0004689": [ "short fourth metatarsal", "bilateral fourth metatarsal shorten", "bilateral fourth metatarsal shortening", "short 4th long bone of foot", "short fourth metatarsals", "short fourth metatarsus" ], "HP:0004690": [ "thicken achilles tendon", "thickened achilles tendon" ], "HP:0004691": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0001846": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0001856": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0003773": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0004683": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0004685": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0004697": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0004703": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0008086": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0008123": [ "2 - 3 toe syndactyly", "2 - 3 syndactyly of foot", "2 - 3 syndactyly of feet", "2 - 3 toe soft tissue syndactyly", "2 - 3 toes syndactyly", "partial or complete syndactyly 2nd - 3rd toe", "partial or complete syndactyly 2nd - 3rd toes", "syndactyly of second and third toe", "syndactyly of second and third toes", "toe syndactyly , 2 - 3", "web 2nd and 3rd toe", "webbed 2nd and 3rd toes" ], "HP:0004692": [ "4 - 5 toe syndactyly", "symmetric syndactyly , toe 4 and 5", "symmetric syndactyly , toes 4 and 5", "syndactyly of toe 4 and 5", "syndactyly of toes 4 and 5", "web 4th - 5th toe", "webbed 4th - 5th toes" ], "HP:0005826": [ "4 - 5 toe syndactyly", "symmetric syndactyly , toe 4 and 5", "symmetric syndactyly , toes 4 and 5", "syndactyly of toe 4 and 5", "syndactyly of toes 4 and 5", "web 4th - 5th toe", "webbed 4th - 5th toes" ], "HP:0005861": [ "4 - 5 toe syndactyly", "symmetric syndactyly , toe 4 and 5", "symmetric syndactyly , toes 4 and 5", "syndactyly of toe 4 and 5", "syndactyly of toes 4 and 5", "web 4th - 5th toe", "webbed 4th - 5th toes" ], "HP:0004695": [ "calcaneal epiphyseal stipple", "calcaneal epiphyseal stippling" ], "HP:0004696": [ "talipes cavus equinovarus" ], "HP:0004699": [ "osteoporotic metatarsal" ], "HP:0004704": [ "short fifth metatarsal", "hypoplasia of the fifth metatarsal bone", "short 5th long bone of foot" ], "HP:0004702": [ "short fifth metatarsal", "hypoplasia of the fifth metatarsal bone", "short 5th long bone of foot" ], "HP:0010671": [ "short fifth metatarsal", "hypoplasia of the fifth metatarsal bone", "short 5th long bone of foot" ], "HP:0004712": [ "renal malrotation", "abnormal rotation of the kidney", "abnormal rotation of the kidneys", "malrotation of the kidney" ], "HP:0004730": [ "renal malrotation", "abnormal rotation of the kidney", "abnormal rotation of the kidneys", "malrotation of the kidney" ], "HP:0004713": [ "reversible renal failure", "reversible kidney failure" ], "HP:0004717": [ "axial malrotation of the kidney" ], "HP:0004719": [ "hyperechogenic kidney", "hyperechogenic kidneys", "echogenic kidney", "echogenic kidneys", "increase echogenicity of the renal parenchyma", "increased echogenicity of the renal parenchyma" ], "HP:0004722": [ "thicken glomerular basement membrane", "thickened glomerular basement membrane" ], "HP:0004724": [ "calcium nephrolithiasis", "ca kidney stone", "ca nephrolithiasis", "ca2+ kidney stone", "ca2+ nephrolithiasis", "calcium kidney stone" ], "HP:0004727": [ "impaired renal concentrating ability", "urine concentrating defect", "urine concentration defect" ], "HP:0005568": [ "impaired renal concentrating ability", "urine concentrating defect", "urine concentration defect" ], "HP:0004729": [ "acute tubulointerstitial nephritis" ], "HP:0004732": [ "impaired renal uric acid clearance" ], "HP:0004734": [ "renal cortical microcysts", "cortical microcysts", "multiple renal cortical microcysts", "multiple small renal cortical cyst", "multiple small renal cortical cysts" ], "HP:0000814": [ "renal cortical microcysts", "cortical microcysts", "multiple renal cortical microcysts", "multiple small renal cortical cyst", "multiple small renal cortical cysts" ], "HP:0004736": [ "cross fused renal ectopia", "crossed fused renal ectopia", "ectopic kidney with fusion" ], "HP:0004737": [ "global glomerulosclerosis" ], "HP:0004742": [ "abnormal renal collecting system morphology", "abnormal collecting system", "abnormality of the renal collecting system", "renal collecting system anomaly", "renal collecting system anomalies" ], "HP:0004731": [ "abnormal renal collecting system morphology", "abnormal collecting system", "abnormality of the renal collecting system", "renal collecting system anomaly", "renal collecting system anomalies" ], "HP:0004743": [ "chronic tubulointerstitial nephritis" ], "HP:0004746": [ "glomerular subendothelial electron - dense deposit", "glomerular subendothelial electron - dense deposits", "dense deposit disease", "membranoproliferative glomerulonephritis type ii" ], "HP:0004749": [ "atrial flutter" ], "HP:0004751": [ "paroxysmal ventricular tachycardia", "episode of ventricular tachycardia", "episodes of ventricular tachycardia", "obsolete episode of ventricular tachycardia", "obsolete episodes of ventricular tachycardia" ], "HP:0005141": [ "paroxysmal ventricular tachycardia", "episode of ventricular tachycardia", "episodes of ventricular tachycardia", "obsolete episode of ventricular tachycardia", "obsolete episodes of ventricular tachycardia" ], "HP:0004752": [ "congenital atrioventricular dissociation" ], "HP:0004754": [ "permanent atrial fibrillation", "chronic atrial fibrillation" ], "HP:0004755": [ "supraventricular tachycardia", "supraventricular tachyarrhythmia" ], "HP:0004756": [ "ventricular tachycardia" ], "HP:0004757": [ "paroxysmal atrial fibrillation", "atrial fibrillation , paroxysmal", "intermittent atrial fibrillation", "paroxysmal af" ], "HP:0004758": [ "effort - induced polymorphic ventricular tachycardia", "catecholaminergic polymorphic ventricular tachycardia", "exercise - induced polymorphic ventricular tachycardia" ], "HP:0004761": [ "post - angioplasty coronary artery restenosis" ], "HP:0004762": [ "hypoplasia of right ventricle", "heart right ventricle hypoplasia", "small right heart chamber", "underdeveloped right heart chamber" ], "HP:0004951": [ "hypoplasia of right ventricle", "heart right ventricle hypoplasia", "small right heart chamber", "underdeveloped right heart chamber" ], "HP:0004763": [ "paroxysmal supraventricular tachycardia", "episodic rapid heart beat", "episodic supraventricular tachycardia" ], "HP:0004765": [ "paroxysmal supraventricular tachycardia", "episodic rapid heart beat", "episodic supraventricular tachycardia" ], "HP:0004764": [ "myxomatous mitral valve degeneration" ], "HP:0004768": [ "sparse anterior scalp hair", "sparse scalp hair at front of head", "thin scalp hair at front of head" ], "HP:0004771": [ "premature graying of body hair", "premature greying of body hair" ], "HP:0004779": [ "brittle scalp hair" ], "HP:0004776": [ "brittle scalp hair" ], "HP:0004780": [ "elbow hypertrichosis", "hairy elbow", "hairy elbow syndrome", "hypertrichosis cubiti", "pilosity of elbow" ], "HP:0004783": [ "duodenal polyposis", "multiple duodenal polyp", "multiple duodenal polyps" ], "HP:0004784": [ "juvenile gastrointestinal polyposis", "juvenile gi polyposis" ], "HP:0004785": [ "malrotation of colon" ], "HP:0004786": [ "jejunal diverticulum", "jejunal diverticula" ], "HP:0004787": [ "fulminant hepatitis" ], "HP:0004788": [ "intestinal lymphedema" ], "HP:0004789": [ "lactose intolerance", "milk intolerance" ], "HP:0004790": [ "hypoplasia of the small intestine", "underdeveloped small intestine" ], "HP:0004791": [ "esophageal ulceration", "esophagus ulcer", "oesophagus ulcer", "oesophagus ulceration" ], "HP:0004792": [ "rectoperineal fistula" ], "HP:0004794": [ "malrotation of small bowel", "malrotation of the small intestine" ], "HP:0004795": [ "hamartomatous stomach polyp", "hamartomatous stomach polyps" ], "HP:0004796": [ "gastrointestinal obstruction", "gi obstruction", "obstruction in digestive tract" ], "HP:0004797": [ "multiple small bowel atresia", "multiple small bowel atresias" ], "HP:0004798": [ "recurrent infection of the gastrointestinal tract", "gastrointestinal infection", "gastrointestinal infections", "gastrointestinal infection , recurrent", "gastrointestinal infections , recurrent", "recurrent gastrointestinal infection", "recurrent gastrointestinal infections", "recurrent infection of the gi tract" ], "HP:0004799": [ "jejunoileal diverticulum", "jejunoileal diverticula" ], "HP:0004800": [ "duodenal diverticulum", "duodenal diverticula" ], "HP:0004802": [ "episodic hemolytic anemia", "episodic hemolysis", "episodic hemolytic anaemia" ], "HP:0004804": [ "congenital hemolytic anemia", "congenital haemolytic anaemia", "congenital haemolytic anemia", "congenital hemolytic anaemia", "neonatal hemolytic anaemia", "neonatal hemolytic anemia" ], "HP:0004811": [ "congenital hemolytic anemia", "congenital haemolytic anaemia", "congenital haemolytic anemia", "congenital hemolytic anaemia", "neonatal hemolytic anaemia", "neonatal hemolytic anemia" ], "HP:0004824": [ "congenital hemolytic anemia", "congenital haemolytic anaemia", "congenital haemolytic anemia", "congenital hemolytic anaemia", "neonatal hemolytic anaemia", "neonatal hemolytic anemia" ], "HP:0004808": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0001914": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0004843": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0005516": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0006724": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0006728": [ "acute myeloid leukemia", "acute myeloblastic leukaemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukaemia", "acute myelogenous leukemia", "acute myeloid leukaemia" ], "HP:0004809": [ "neonatal alloimmune thrombocytopenia" ], "HP:0004810": [ "congenital hypoplastic anemia", "congenital dyserythropoietic anaemia", "congenital dyserythropoietic anemia", "congenital hypoplastic anaemia" ], "HP:0005545": [ "congenital hypoplastic anemia", "congenital dyserythropoietic anaemia", "congenital dyserythropoietic anemia", "congenital hypoplastic anaemia" ], "HP:0004812": [ "b acute lymphoblastic leukemia", "b acute lymphoblastic leukaemia", "pre - b - cell acute lymphoblastic leukaemia", "pre - b - cell acute lymphoblastic leukemia" ], "HP:0004813": [ "post - transfusion thrombocytopenia", "post - transfusion purpura" ], "HP:0004814": [ "fava bean - induce hemolytic anemia", "fava bean - induced hemolytic anemia", "fava bean - induce hemolytic anaemia", "fava bean - induced hemolytic anaemia", "hemolytic anaemia follow ingestion of fava bean", "hemolytic anaemia following ingestion of fava beans", "hemolytic anemia follow ingestion of fava bean", "hemolytic anemia following ingestion of fava beans" ], "HP:0004817": [ "drug - sensitive hemolytic anemia", "drug - sensitive hemolytic anaemia" ], "HP:0004818": [ "paroxysmal nocturnal hemoglobinuria", "paroxysmal nocturnal haemoglobinuria" ], "HP:0004819": [ "normocytic hypoplastic anemia", "normocytic hypoplastic anaemia" ], "HP:0004820": [ "acute myelomonocytic leukemia", "acute myelomonocytic leukaemia" ], "HP:0004821": [ "hypersegmentation of neutrophil nucleus", "hypersegmentation of neutrophil nuclei", "hypermature neutrophil", "hypermature neutrophils", "hypersegmentation of neutrophil nucleus in peripheral blood", "hypersegmentation of neutrophil nuclei in peripheral blood" ], "HP:0004822": [ "atypical elliptocytosis" ], "HP:0004823": [ "anisopoikilocytosis" ], "HP:0004825": [ "increase hemoglobin oxygen affinity", "increased hemoglobin oxygen affinity", "increase haemoglobin o2 affinity", "increased haemoglobin o2 affinity", "increase haemoglobin oxygen affinity", "increased haemoglobin oxygen affinity", "increase hb o2 affinity", "increased hb o2 affinity", "increase hb oxygen affinity", "increased hb oxygen affinity", "increase hemoglobin o2 affinity", "increased hemoglobin o2 affinity" ], "HP:0004826": [ "folate - unresponsive megaloblastic anemia", "folate - unresponsive megaloblastic anaemia" ], "HP:0004828": [ "refractory anemia with ringed sideroblast", "refractory anemia with ringed sideroblasts", "myelodysplasia with sideroblastosis", "refractory anaemia with ringed sideroblast", "refractory anaemia with ringed sideroblasts" ], "HP:0004831": [ "recurrent thromboembolism", "recurrent thromboembolic disease" ], "HP:0004835": [ "microspherocytosis" ], "HP:0004836": [ "acute promyelocytic leukemia", "acute promyelocytic leukaemia" ], "HP:0004839": [ "pyropoikilocytosis", "hereditary pyropoikilocytosis" ], "HP:0004805": [ "pyropoikilocytosis", "hereditary pyropoikilocytosis" ], "HP:0004840": [ "hypochromic microcytic anemia", "hypochromic microcytic anaemia", "hypochromic , microcytic anaemia", "hypochromic , microcytic anemia" ], "HP:0004842": [ "hypochromic microcytic anemia", "hypochromic microcytic anaemia", "hypochromic , microcytic anaemia", "hypochromic , microcytic anemia" ], "HP:0004841": [ "reduce factor xii activity", "reduced factor xii activity", "factor xii deficiency", "hageman factor deficiency" ], "HP:0005514": [ "reduce factor xii activity", "reduced factor xii activity", "factor xii deficiency", "hageman factor deficiency" ], "HP:0005551": [ "reduce factor xii activity", "reduced factor xii activity", "factor xii deficiency", "hageman factor deficiency" ], "HP:0008286": [ "reduce factor xii activity", "reduced factor xii activity", "factor xii deficiency", "hageman factor deficiency" ], "HP:0004844": [ "coombs - positive hemolytic anemia", "coombs - positive hemolytic anaemia", "direct coombs positive" ], "HP:0003539": [ "coombs - positive hemolytic anemia", "coombs - positive hemolytic anaemia", "direct coombs positive" ], "HP:0004845": [ "acute monocytic leukemia", "acute monoblastic leukaemia", "acute monoblastic leukemia", "acute monocytic leukaemia", "amol" ], "HP:0004833": [ "acute monocytic leukemia", "acute monoblastic leukaemia", "acute monoblastic leukemia", "acute monocytic leukaemia", "amol" ], "HP:0004846": [ "prolong bleeding after surgery", "prolonged bleeding after surgery", "excessive bleeding during surgery", "protract bleeding after surgery", "protracted bleeding after surgery" ], "HP:0004848": [ "ph - positive acute lymphoblastic leukemia", "ph - positive acute lymphoblastic leukaemia", "philadelphia - positive acute lymphoblastic leukaemia", "philadelphia - positive acute lymphoblastic leukemia" ], "HP:0004850": [ "recurrent deep vein thrombosis", "recurrent deep vein blood clot", "recurrent venous thrombosis" ], "HP:0004851": [ "folate - responsive megaloblastic anemia", "folate - responsive megaloblastic anaemia" ], "HP:0004852": [ "reduce leukocyte alkaline phosphatase", "reduced leukocyte alkaline phosphatase", "low leukocyte alkaline phosphatase", "reduce leukocyte alp", "reduced leukocyte alp" ], "HP:0004854": [ "intermittent thrombocytopenia" ], "HP:0004855": [ "reduce protein s activity", "reduced protein s activity", "protein s deficiency" ], "HP:0004856": [ "normochromic microcytic anemia", "normochromic microcytic anaemia" ], "HP:0004857": [ "hyperchromic macrocytic anemia", "hyperchromic macrocytic anaemia" ], "HP:0004859": [ "amegakaryocytic thrombocytopenia" ], "HP:0004860": [ "thiamine - responsive megaloblastic anemia", "thiamine - responsive megaloblastic anaemia" ], "HP:0004861": [ "refractory macrocytic anemia", "refractory macrocytic anaemia" ], "HP:0004863": [ "compensate hemolytic anemia", "compensated hemolytic anemia", "compensate hemolytic anaemia", "compensated hemolytic anaemia" ], "HP:0004864": [ "refractory sideroblastic anemia", "refractory sideroblastic anaemia" ], "HP:0004866": [ "impaired adp - induced platelet aggregation" ], "HP:0004870": [ "chronic hemolytic anemia", "chronic hemolytic anaemia", "hemolytic anemia , chronic" ], "HP:0004815": [ "chronic hemolytic anemia", "chronic hemolytic anaemia", "hemolytic anemia , chronic" ], "HP:0004871": [ "perineal fistula" ], "HP:0004872": [ "incisional hernia", "recurrent abdominal hernia" ], "HP:0004875": [ "neonatal inspiratory stridor" ], "HP:0004876": [ "spontaneous neonatal pneumothorax", "neonatal pneumothorax" ], "HP:0004878": [ "intercostal muscle weakness", "dependence on diaphragmatic breathing", "muscle weakness between rib", "muscle weakness between ribs" ], "HP:0004879": [ "intermittent hyperventilation", "episodic hyperventilation", "intermittent overbreathing" ], "HP:0004880": [ "respiratory infection in early life", "respiratory infections in early life" ], "HP:0004881": [ "episodic hypoventilation", "episodic slow breathing", "episodic under breathe", "episodic under breathing" ], "HP:0004885": [ "episodic respiratory distress", "episodic difficulty breathe", "episodic difficulty breathing", "respiratory distress , episodic" ], "HP:0004886": [ "congenital laryngeal stridor" ], "HP:0004887": [ "respiratory failure require assist ventilation", "respiratory failure requiring assisted ventilation", "respiratory distress necessitate mechanical ventilation", "respiratory distress necessitating mechanical ventilation", "respiratory distress require endotracheal intubation", "respiratory distress requiring endotracheal intubation", "respiratory distress require mechanical ventilation", "respiratory distress requiring mechanical ventilation" ], "HP:0004883": [ "respiratory failure require assist ventilation", "respiratory failure requiring assisted ventilation", "respiratory distress necessitate mechanical ventilation", "respiratory distress necessitating mechanical ventilation", "respiratory distress require endotracheal intubation", "respiratory distress requiring endotracheal intubation", "respiratory distress require mechanical ventilation", "respiratory distress requiring mechanical ventilation" ], "HP:0004889": [ "intermittent episode of respiratory insufficiency due to muscle weakness", "intermittent episodes of respiratory insufficiency due to muscle weakness" ], "HP:0004890": [ "elevate pulmonary artery pressure", "elevated pulmonary artery pressure", "elevate lung artery pressure", "elevated lung artery pressure", "increase pulmonary artery pressure", "increased pulmonary artery pressure" ], "HP:0004958": [ "elevate pulmonary artery pressure", "elevated pulmonary artery pressure", "elevate lung artery pressure", "elevated lung artery pressure", "increase pulmonary artery pressure", "increased pulmonary artery pressure" ], "HP:0004891": [ "recurrent infection due to aspiration", "recurrent infections due to aspiration" ], "HP:0004894": [ "laryngotracheal stenosis" ], "HP:0004897": [ "stress / infection - induced lactic acidosis", "metabolic crisis during febrile infection", "metabolic crises during febrile infections" ], "HP:0004898": [ "persistent lactic acidosis" ], "HP:0004900": [ "severe lactic acidosis" ], "HP:0004901": [ "exercise - induced lactic acidemia", "exercise - induced lactic acidosis" ], "HP:0004902": [ "congenital lactic acidosis" ], "HP:0004904": [ "maturity - onset diabetes of the young", "maturity onset diabetes of the young" ], "HP:0004905": [ "low level of vitamin a", "low levels of vitamin a", "vitamin a deficiency" ], "HP:0004906": [ "hypernatremic dehydration" ], "HP:0004909": [ "hypokalemic hypochloremic metabolic alkalosis" ], "HP:0004910": [ "bicarbonate - waste renal tubular acidosis", "bicarbonate - wasting renal tubular acidosis", "hco3 - waste renal tubular acidosis", "hco3 - wasting renal tubular acidosis", "renal bicarbonate wasting" ], "HP:0004911": [ "episodic metabolic acidosis", "recurrent episode of acidosis", "recurrent episodes of acidosis" ], "HP:0005963": [ "episodic metabolic acidosis", "recurrent episode of acidosis", "recurrent episodes of acidosis" ], "HP:0004912": [ "hypophosphatemic rickets" ], "HP:0004913": [ "intermittent lactic acidemia" ], "HP:0004914": [ "recurrent infantile hypoglycemia", "episodic infantile hypoglycemia", "recurrent low blood sugar in infant" ], "HP:0004917": [ "recurrent infantile hypoglycemia", "episodic infantile hypoglycemia", "recurrent low blood sugar in infant" ], "HP:0004915": [ "impairment of galactose metabolism", "impaired galactose metabolism" ], "HP:0004916": [ "generalize distal tubular acidosis", "generalized distal tubular acidosis", "generalise distal tubular acidosis", "generalised distal tubular acidosis" ], "HP:0004918": [ "hyperchloremic metabolic acidosis", "non - gap acidosis" ], "HP:0004919": [ "galactose intolerance" ], "HP:0004920": [ "phenylpyruvic acidemia" ], "HP:0004921": [ "abnormal magnesium concentration", "abnormal magnesium metabolism", "abnormal mg concentration", "abnormality of magnesium homeostasis" ], "HP:0008274": [ "abnormal magnesium concentration", "abnormal magnesium metabolism", "abnormal mg concentration", "abnormality of magnesium homeostasis" ], "HP:0004922": [ "atypical hyperphenylalaninemia" ], "HP:0004923": [ "hyperphenylalaninemia" ], "HP:0004924": [ "abnormal oral glucose tolerance", "abnormal glucose oral tolerance test" ], "HP:0004925": [ "chronic lactic acidosis" ], "HP:0004899": [ "chronic lactic acidosis" ], "HP:0004926": [ "orthostatic hypotension due to autonomic dysfunction" ], "HP:0004927": [ "pulmonary artery dilatation" ], "HP:0004928": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease" ], "HP:0004930": [ "abnormality of the pulmonary vasculature", "abnormality of the lung blood vessel", "abnormality of the lung blood vessels" ], "HP:0004931": [ "arteriosclerosis of small cerebral artery", "arteriosclerosis of small cerebral arteries", "harden artery wall in small cerebral artery", "hardened artery wall in small cerebral arteries" ], "HP:0004933": [ "ascend aortic dissection", "ascending aortic dissection", "type a aortic dissection" ], "HP:0004934": [ "vascular calcification" ], "HP:0004935": [ "pulmonary artery atresia", "pulmonary atresia" ], "HP:0004936": [ "venous thrombosis", "blood clot in vein" ], "HP:0004937": [ "pulmonary artery aneurysm" ], "HP:0004938": [ "tortuous cerebral artery", "tortuous cerebral arteries", "twisted cerebral artery", "twisted cerebral arteries" ], "HP:0004940": [ "generalize arterial calcification", "generalized arterial calcification", "generalise arterial calcification", "generalised arterial calcification" ], "HP:0004967": [ "generalize arterial calcification", "generalized arterial calcification", "generalise arterial calcification", "generalised arterial calcification" ], "HP:0004941": [ "extrahepatic portal hypertension" ], "HP:0004942": [ "obsolete aortic dilatation", "aortic aneurysm", "aortic dilatation", "bulge in wall of large artery that carry blood away from heart", "bulge in wall of large artery that carries blood away from heart" ], "HP:0004943": [ "accelerate atherosclerosis", "accelerated atherosclerosis", "accelerate plaque build - up in artery", "accelerated plaque build - up in arteries" ], "HP:0004944": [ "dilatation of the cerebral artery", "brain aneurysm", "cerebral aneurysm", "cerebral artery aneurysm", "intracranial aneurysm" ], "HP:0002618": [ "dilatation of the cerebral artery", "brain aneurysm", "cerebral aneurysm", "cerebral artery aneurysm", "intracranial aneurysm" ], "HP:0006816": [ "dilatation of the cerebral artery", "brain aneurysm", "cerebral aneurysm", "cerebral artery aneurysm", "intracranial aneurysm" ], "HP:0004945": [ "extracranial internal carotid artery dissection" ], "HP:0004947": [ "arteriovenous fistula", "arteriovenous fistulas" ], "HP:0004946": [ "arteriovenous fistula", "arteriovenous fistulas" ], "HP:0004948": [ "vascular tortuosity", "twist blood vessel", "twisted blood vessels" ], "HP:0004950": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0004973": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0005296": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0005299": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0005309": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0005315": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0005794": [ "obsolete peripheral arterial stenosis", "peripheral arterial stenosis", "arterial disease of leg", "arterial disease of legs", "occlusive arterial disease", "occlusive vascular disease", "peripheral artery disease", "peripheral artery occlusive disease", "peripheral vascular disease", "obsolete occlusive vascular disease", "obsolete premature peripheral vascular disease", "obsolete peripheral vascular insufficiency", "obsolete peripheral artery occlusive disease", "obsolete arterial disease of leg", "obsolete arterial disease of legs" ], "HP:0004952": [ "pulmonary arteriovenous fistula", "pulmonary arteriovenous fistulas" ], "HP:0004953": [ "obsolete dilatation of abdominal aorta", "abdominal aortic aneurysm", "dilatation of the abdominal aorta" ], "HP:0004954": [ "obsolete dilatation of the descending aorta", "descend thoracic aorta aneurysm", "descending thoracic aorta aneurysm", "dilatation of the descend thoracic aorta", "dilatation of the descending thoracic aorta" ], "HP:0004955": [ "generalize arterial tortuosity", "generalized arterial tortuosity", "arterial tortuosity , general", "arterial tortuosity , generalise", "arterial tortuosity , generalised", "arterial tortuosity , generalize", "arterial tortuosity , generalized", "generalise arterial tortuosity", "generalised arterial tortuosity", "generalise twisted artery", "generalised twisted arteries", "generalize twisted artery", "generalized twisted arteries" ], "HP:0004959": [ "obsolete dilatation of the descending aorta", "descend thoracic aorta aneurysm", "descending thoracic aorta aneurysm", "dilatation of the descend thoracic aorta", "dilatation of the descending thoracic aorta" ], "HP:0004960": [ "absent pulmonary artery", "absent lung artery", "miss pulmonary artery", "missing pulmonary artery" ], "HP:0004961": [ "pulmonary artery sling" ], "HP:0004962": [ "thoracic aorta calcification" ], "HP:0004963": [ "calcification of the aorta" ], "HP:0004964": [ "pulmonary arterial medial hypertrophy", "hypertrophy of the pulmonary artery wall" ], "HP:0004939": [ "pulmonary arterial medial hypertrophy", "hypertrophy of the pulmonary artery wall" ], "HP:0004966": [ "medial calcification of large artery", "medial calcification of large arteries" ], "HP:0004968": [ "recurrent cerebral hemorrhage", "recurrent cerebral haemorrhage", "recurrent hemorrhagic stroke" ], "HP:0004969": [ "peripheral pulmonary artery stenosis", "narrowing of peripheral lung artery", "peripheral pulmonary stenosis", "peripheral pulmonic stenosis" ], "HP:0004957": [ "peripheral pulmonary artery stenosis", "narrowing of peripheral lung artery", "peripheral pulmonary stenosis", "peripheral pulmonic stenosis" ], "HP:0004970": [ "ascend tubular aorta aneurysm", "ascending tubular aorta aneurysm", "aneurysm of the ascend tubular aorta", "aneurysm of the ascending tubular aorta", "ascend aorta dilation", "ascending aorta dilation", "ascend aortic aneurysm", "ascending aortic aneurysm", "ascend aortic dilation", "ascending aortic dilation", "bulging of wall of large artery locate above heart", "bulging of wall of large artery located above heart", "dilatation of ascend aorta", "dilatation of ascending aorta", "obsolete dilatation of the ascending aorta" ], "HP:0005111": [ "ascend tubular aorta aneurysm", "ascending tubular aorta aneurysm", "aneurysm of the ascend tubular aorta", "aneurysm of the ascending tubular aorta", "ascend aorta dilation", "ascending aorta dilation", "ascend aortic aneurysm", "ascending aortic aneurysm", "ascend aortic dilation", "ascending aortic dilation", "bulging of wall of large artery locate above heart", "bulging of wall of large artery located above heart", "dilatation of ascend aorta", "dilatation of ascending aorta", "obsolete dilatation of the ascending aorta" ], "HP:0005128": [ "ascend tubular aorta aneurysm", "ascending tubular aorta aneurysm", "aneurysm of the ascend tubular aorta", "aneurysm of the ascending tubular aorta", "ascend aorta dilation", "ascending aorta dilation", "ascend aortic aneurysm", "ascending aortic aneurysm", "ascend aortic dilation", "ascending aortic dilation", "bulging of wall of large artery locate above heart", "bulging of wall of large artery located above heart", "dilatation of ascend aorta", "dilatation of ascending aorta", "obsolete dilatation of the ascending aorta" ], "HP:0004971": [ "pulmonary artery hypoplasia", "underdeveloped lung artery", "underdeveloped pulmonary artery" ], "HP:0004972": [ "elevate mean arterial pressure", "elevated mean arterial pressure" ], "HP:0004974": [ "coarctation of abdominal aorta" ], "HP:0004975": [ "erlenmeyer flask deformity of the femur", "erlenmeyer flask deformity of the femurs", "erlenmeyer flask deformity of distal femur", "erlenmeyer flask femur", "erlenmeyer flask femora", "erlenmeyer flask shape thighbone", "erlenmeyer flask shaped thighbone" ], "HP:0006422": [ "erlenmeyer flask deformity of the femur", "erlenmeyer flask deformity of the femurs", "erlenmeyer flask deformity of distal femur", "erlenmeyer flask femur", "erlenmeyer flask femora", "erlenmeyer flask shape thighbone", "erlenmeyer flask shaped thighbone" ], "HP:0004976": [ "knee dislocation", "dislocation of the knee", "dislocations of the knees", "knee dislocations" ], "HP:0006469": [ "knee dislocation", "dislocation of the knee", "dislocations of the knees", "knee dislocations" ], "HP:0004977": [ "bilateral radial aplasia", "bilateral absence of radius" ], "HP:0005870": [ "bilateral radial aplasia", "bilateral absence of radius" ], "HP:0004979": [ "metaphyseal sclerosis", "increase bone density in wide portion of long bone", "increased bone density in wide portion of long bone", "sclerotic metaphyses" ], "HP:0004980": [ "metaphyseal rarefaction", "rarefaction of the metaphyses" ], "HP:0004981": [ "prominent styloid process of ulna" ], "HP:0004986": [ "obsolete rudimentary to absent fibula", "obsolete rudimentary to absent fibulae", "rudimentary fibula", "rudimentary to absent fibula", "rudimentary to absent fibulae", "small to absent calf bone", "small to absent fibula" ], "HP:0004987": [ "mesomelic leg shorten", "mesomelic leg shortening", "mesomelia of the low limb", "mesomelia of the lower limbs", "mesomelic low limb shorten", "mesomelic lower limb shortening" ], "HP:0004990": [ "epiphyseal streak", "epiphyseal streaking" ], "HP:0004991": [ "rhizomelic arm shortening" ], "HP:0004993": [ "slender long bone with narrow diaphysis", "slender long bones with narrow diaphyses", "slender long bone with narrow shaft", "slender long bones with narrow shaft" ], "HP:0004997": [ "multicentric ossification of proximal humeral epiphysis", "multicentric ossification of proximal humeral epiphyses" ], "HP:0005001": [ "recurrent patellar dislocation", "recurrent dislocation of patella", "recurrent dislocation of patellas" ], "HP:0005003": [ "aplasia / hypoplasia of the capital femoral epiphysis", "absent / small end part of innermost thighbone", "absent / underdeveloped end part of innermost thighbone" ], "HP:0005004": [ "flatten proximal radial epiphysis", "flattened proximal radial epiphyses" ], "HP:0005005": [ "femoral bow present at birth , straighten with time", "femoral bowing present at birth , straightening with time", "bowing of thighbone at birth , straighten with time", "bowing of thighbone at birth , straightening with time" ], "HP:0005008": [ "large joint dislocation", "large joint dislocations" ], "HP:0005009": [ "dumbbell - shape humerus", "dumbbell - shaped humerus", "dumbbell - shape long bone in upper arm", "dumbbell - shaped long bone in upper arm" ], "HP:0005010": [ "osteomyelitis lead to amputation due to slow healing fracture", "osteomyelitis leading to amputation due to slow healing fractures" ], "HP:0005011": [ "mesomelic arm shortening", "mesomelia of the upper limb", "mesomelia of the upper limbs", "upper limb brachymesomelia" ], "HP:0005024": [ "mesomelic arm shortening", "mesomelia of the upper limb", "mesomelia of the upper limbs", "upper limb brachymesomelia" ], "HP:0006455": [ "mesomelic arm shortening", "mesomelia of the upper limb", "mesomelia of the upper limbs", "upper limb brachymesomelia" ], "HP:0005013": [ "dysplastic distal radial epiphysis", "dysplastic distal radial epiphyses" ], "HP:0005017": [ "polyarticular chondrocalcinosis" ], "HP:0005019": [ "diaphyseal thicken", "diaphyseal thickening", "thickening of shaft or central part of long bone", "thickening of shaft or central part of long bones" ], "HP:0005021": [ "bilateral elbow dislocation", "bilateral elbow dislocations", "dislocate elbow on both side", "dislocated elbows on both sides" ], "HP:0005025": [ "hypoplastic distal humerus", "hypoplastic distal humeri" ], "HP:0005026": [ "mesomelic / rhizomelic limb shorten", "mesomelic / rhizomelic limb shortening" ], "HP:0005028": [ "widen proximal tibial metaphyses", "widened proximal tibial metaphyses", "wide innermost wide portion of shankbone bone", "wide innermost wide portion of shinbone bone" ], "HP:0005033": [ "distal ulnar hypoplasia", "distal shortening of ulna", "hypoplastic distal ulna" ], "HP:0006474": [ "distal ulnar hypoplasia", "distal shortening of ulna", "hypoplastic distal ulna" ], "HP:0005035": [ "shortening of all phalanx of the toe", "shortening of all phalanges of the toes", "short toe bone", "short toe bones" ], "HP:0005036": [ "unilateral ulnar hypoplasia" ], "HP:0005037": [ "proximal radio - ulnar synostosis" ], "HP:0005039": [ "multiple long - bone exostosis", "multiple long - bone exostoses", "multiple exostosis of long tubular bone", "multiple exostoses of long tubular bones" ], "HP:0005041": [ "irregular capital femoral epiphysis", "irregular capital femoral epiphyses", "irregular end part of innermost thighbone", "irregular proximal femoral epiphysis", "irregular proximal femoral epiphyses" ], "HP:0008806": [ "irregular capital femoral epiphysis", "irregular capital femoral epiphyses", "irregular end part of innermost thighbone", "irregular proximal femoral epiphysis", "irregular proximal femoral epiphyses" ], "HP:0005042": [ "irregular , rachitic - like metaphyses" ], "HP:0005043": [ "proximal humeral metaphyseal irregularity", "irregular proximal humeral metaphyses" ], "HP:0005045": [ "diaphyseal cortical sclerosis" ], "HP:0005048": [ "synostosis of carpal bone", "synostosis of carpal bones", "fusion of wrist bone", "fusion of wrist bones" ], "HP:0005050": [ "anterolateral radial head dislocation", "anterior / lateral radial head dislocation" ], "HP:0005054": [ "metaphyseal spur", "metaphyseal spurs" ], "HP:0005088": [ "metaphyseal spur", "metaphyseal spurs" ], "HP:0005059": [ "arthralgia / arthritis", "joint pain / joint inflammation" ], "HP:0005060": [ "limited elbow flexion / extension" ], "HP:0005063": [ "fragment , irregular epiphysis", "fragmented , irregular epiphyses", "fragment , irregular end part of bone", "fragmented , irregular end part of bone" ], "HP:0005066": [ "cone - shaped epiphysis fuse within their metaphyses", "cone - shaped epiphyses fused within their metaphyses", "cone - shaped end part of long bone fuse within their wide portion of wide bone", "cone - shaped end part of long bone fused within their wide portion of wide bone" ], "HP:0005067": [ "proximal fibular overgrowth", "overgrowth of innermost part of calf bone" ], "HP:0005068": [ "absent styloid process of ulna" ], "HP:0005069": [ "rhizo - meso - acromelic limb shorten", "rhizo - meso - acromelic limb shortening" ], "HP:0005070": [ "proximal radial head dislocation" ], "HP:0005072": [ "hyperextensibility at wrist", "hyperextensibility at wrists", "increase laxity of wrist", "increased laxity of wrists", "increase wrist mobility", "increased wrist mobility" ], "HP:0005084": [ "anterior radial head dislocation", "anterior dislocation of radial head" ], "HP:0005085": [ "limited knee flexion / extension" ], "HP:0005086": [ "knee osteoarthritis" ], "HP:0005089": [ "abnormal metaphyseal trabeculation" ], "HP:0006360": [ "abnormal metaphyseal trabeculation" ], "HP:0005090": [ "lateral femoral bowing" ], "HP:0005022": [ "lateral femoral bowing" ], "HP:0005092": [ "streaky metaphyseal sclerosis", "streak increase in bone density in wide portion of wide bone" ], "HP:0005093": [ "absent proximal radial epiphysis", "absent proximal radial epiphyses" ], "HP:0005096": [ "distal femoral bowing" ], "HP:0005099": [ "severe hydrops fetalis", "severe hydrops" ], "HP:0005100": [ "premature birth follow premature rupture of fetal membrane", "premature birth following premature rupture of fetal membranes", "premature birth follow premature rupture of foetal membrane", "premature birth following premature rupture of foetal membranes" ], "HP:0005101": [ "high - frequency hearing impairment", "hearing loss , high - frequency", "high frequency hearing loss", "high - frequency deafness", "progressive high frequency hearing loss", "progressive high - frequency hearing loss" ], "HP:0008522": [ "high - frequency hearing impairment", "hearing loss , high - frequency", "high frequency hearing loss", "high - frequency deafness", "progressive high frequency hearing loss", "progressive high - frequency hearing loss" ], "HP:0008584": [ "high - frequency hearing impairment", "hearing loss , high - frequency", "high frequency hearing loss", "high - frequency deafness", "progressive high frequency hearing loss", "progressive high - frequency hearing loss" ], "HP:0008597": [ "high - frequency hearing impairment", "hearing loss , high - frequency", "high frequency hearing loss", "high - frequency deafness", "progressive high frequency hearing loss", "progressive high - frequency hearing loss" ], "HP:0005102": [ "cochlear degeneration", "progressive cochlear degeneration" ], "HP:0008156": [ "cochlear degeneration", "progressive cochlear degeneration" ], "HP:0005103": [ "calcification of the auricular cartilage", "cartilaginous ossification of pinna", "cartilaginous ossification of pinnae", "ear cartilage calcification", "ossification of pinna", "ossification of pinnae", "petrified ear" ], "HP:0008549": [ "calcification of the auricular cartilage", "cartilaginous ossification of pinna", "cartilaginous ossification of pinnae", "ear cartilage calcification", "ossification of pinna", "ossification of pinnae", "petrified ear" ], "HP:0005104": [ "hypoplastic nasal septum", "decreased size of nasal septum", "decreased size of septum of nose", "hypoplasia of septum of nose", "small nasal septum", "small septum of nose" ], "HP:0005105": [ "abnormal nasal morphology", "abnormal nose morphology", "abnormal of morphology of nose", "abnormal of nasal shape", "abnormal of shape of nose" ], "HP:0005106": [ "abnormality of the vertebral endplate", "abnormality of the vertebral endplates" ], "HP:0005107": [ "abnormal sacrum morphology", "abnormality of the sacrum" ], "HP:0005108": [ "abnormality of the intervertebral disk", "abnormality of the intervertebral disc" ], "HP:0005109": [ "abnormality of the achilles tendon", "abnormality of the calcaneal tendon" ], "HP:0005110": [ "atrial fibrillation", "quiver upper heart chamber result in irregular heartbeat", "quivering upper heart chambers resulting in irregular heartbeat" ], "HP:0001715": [ "atrial fibrillation", "quiver upper heart chamber result in irregular heartbeat", "quivering upper heart chambers resulting in irregular heartbeat" ], "HP:0005179": [ "atrial fibrillation", "quiver upper heart chamber result in irregular heartbeat", "quivering upper heart chambers resulting in irregular heartbeat" ], "HP:0005112": [ "obsolete dilatation of abdominal aorta", "abdominal aortic aneurysm", "dilatation of the abdominal aorta" ], "HP:0005113": [ "aortic arch aneurysm", "aortic arch dilatation", "dilatation of the aortic arch" ], "HP:0004965": [ "aortic arch aneurysm", "aortic arch dilatation", "dilatation of the aortic arch" ], "HP:0005114": [ "obsolete abnormality of the peripheral artery", "obsolete abnormalities of the peripheral arteries", "abnormal systemic arterial morphology", "abnormal systemic artery morphology", "abnormality of the systemic arterial tree", "arterial abnormality", "arterial abnormalities", "systemic artery abnormality" ], "HP:0005115": [ "supraventricular arrhythmia", "arrhythmia , supraventricular", "arrhythmias , supraventricular" ], "HP:0005116": [ "arterial tortuosity" ], "HP:0005117": [ "elevate diastolic blood pressure", "elevated diastolic blood pressure", "elevate diastolic bp", "elevated diastolic bp" ], "HP:0005120": [ "abnormal cardiac atrium morphology", "abnormality of cardiac atrium morphology", "abnormality of heart atrium" ], "HP:0005121": [ "posterior scalloping of vertebral body", "posterior scalloping of vertebral bodies", "posterior vertebral body scallop", "posterior vertebral body scalloping" ], "HP:0004572": [ "posterior scalloping of vertebral body", "posterior scalloping of vertebral bodies", "posterior vertebral body scallop", "posterior vertebral body scalloping" ], "HP:0004579": [ "posterior scalloping of vertebral body", "posterior scalloping of vertebral bodies", "posterior vertebral body scallop", "posterior vertebral body scalloping" ], "HP:0005129": [ "congenital hypertrophy of left ventricle" ], "HP:0005132": [ "pericardial constriction" ], "HP:0005133": [ "right ventricular dilatation", "dilate heart right ventricle", "dilated heart right ventricle" ], "HP:0005134": [ "absence of the pulmonary valve", "absent pulmonary valve" ], "HP:0005131": [ "absence of the pulmonary valve", "absent pulmonary valve" ], "HP:0005135": [ "abnormal t - wave", "ekg : t - wave abnormality", "ekg : t - wave abnormalities", "t - wave abnormality", "t - wave abnormalities" ], "HP:0005136": [ "mitral annular calcification", "premature calcification of mitral annulus" ], "HP:0005143": [ "anomalous origin of right pulmonary artery from ascend aorta", "anomalous origin of right pulmonary artery from ascending aorta" ], "HP:0005144": [ "ventricular septal hypertrophy", "thicken interventricular septum", "thickened interventricular septum" ], "HP:0005145": [ "coronary artery stenosis", "narrowing of coronary artery" ], "HP:0005146": [ "cardiac valve calcification", "calcification of the cardiac valve", "calcifications of the cardiac valves" ], "HP:0005147": [ "bidirectional ventricular ectopy" ], "HP:0005148": [ "pulmonary valve defect", "pulmonary valve defects" ], "HP:0005150": [ "abnormal atrioventricular conduction" ], "HP:0005151": [ "preductal coarctation of the aorta", "proximal aortic coarctation" ], "HP:0005152": [ "histiocytoid cardiomyopathy", "arachnocytosis of the myocardium", "foamy myocardial transformation", "focal lipid cardiomyopathy", "infantile cardiomyopathy with histiocytoid change", "infantile cardiomyopathy with histiocytoid changes", "infantile xanthomatous cardiomyopathy", "isolated cardiac lipidosis", "myocardial or conduction system hamartoma", "oncocytic cardiomyopathy" ], "HP:0005155": [ "ventricular escape rhythm", "idioventricular escape rhythm" ], "HP:0005156": [ "hypoplastic leave atrium", "hypoplastic left atrium", "left atrium hypoplasia", "underdeveloped leave heart atrium", "underdeveloped left heart atrium" ], "HP:0005157": [ "concentric hypertrophic cardiomyopathy", "symmetric , concentric , hypertrophic cardiomyopathy" ], "HP:0001672": [ "concentric hypertrophic cardiomyopathy", "symmetric , concentric , hypertrophic cardiomyopathy" ], "HP:0005160": [ "total anomalous pulmonary venous return", "total anomalous pulmonary venous connection", "total anomalous pulmonary venous drainage" ], "HP:0005153": [ "total anomalous pulmonary venous return", "total anomalous pulmonary venous connection", "total anomalous pulmonary venous drainage" ], "HP:0005175": [ "total anomalous pulmonary venous return", "total anomalous pulmonary venous connection", "total anomalous pulmonary venous drainage" ], "HP:0005162": [ "abnormal leave ventricular function", "abnormal left ventricular function", "impaired leave ventricular function", "impaired left ventricular function", "leave ventricular dysfunction", "left ventricular dysfunction", "leave ventricular failure", "left ventricular failure", "leave ventricular impairment", "left ventricular impairment", "left - side heart failure", "left - sided heart failure" ], "HP:0005154": [ "abnormal leave ventricular function", "abnormal left ventricular function", "impaired leave ventricular function", "impaired left ventricular function", "leave ventricular dysfunction", "left ventricular dysfunction", "leave ventricular failure", "left ventricular failure", "leave ventricular impairment", "left ventricular impairment", "left - side heart failure", "left - sided heart failure" ], "HP:0005164": [ "dysplastic pulmonary valve" ], "HP:0005165": [ "shorten pr interval", "shortened pr interval", "electrocardiographic short pr interval", "short p - r interval", "shorten pr interval on ekg", "shortened pr interval on ekg" ], "HP:0005168": [ "elevate right atrial pressure", "elevated right atrial pressure" ], "HP:0005170": [ "complete heart block with broad qrs complex", "complete heart block with broad qrs complexes" ], "HP:0005172": [ "leave posterior fascicular block", "left posterior fascicular block", "leave posterior hemiblock", "left posterior hemiblock" ], "HP:0005174": [ "membranous subvalvular aortic stenosis" ], "HP:0005176": [ "dysplastic aortic valve" ], "HP:0005177": [ "premature arteriosclerosis", "premature hardening of artery", "premature hardening of arteries" ], "HP:0005178": [ "complete heart block with narrow qrs complex", "complete heart block with narrow qrs complexes" ], "HP:0005180": [ "tricuspid regurgitation", "tricuspid insufficiency", "tricuspid valve regurgitation" ], "HP:0004753": [ "tricuspid regurgitation", "tricuspid insufficiency", "tricuspid valve regurgitation" ], "HP:0005181": [ "premature coronary artery atherosclerosis", "premature coronary artery disease" ], "HP:0005182": [ "bicuspid pulmonary valve" ], "HP:0005183": [ "pericardial lymphangiectasia" ], "HP:0005184": [ "prolonged qtc interval" ], "HP:0005185": [ "global systolic dysfunction" ], "HP:0005186": [ "synovial hypertrophy" ], "HP:0005187": [ "progressive joint destruction" ], "HP:0005190": [ "proximal finger joint hyperextensibility" ], "HP:0005191": [ "congenital knee dislocation", "dislocate knee since birth", "dislocated knee since birth" ], "HP:0005193": [ "restrict large joint movement", "restricted large joint movement" ], "HP:0005194": [ "flatten metatarsal head", "flattened metatarsal heads", "flatten head of long bone of foot", "flattened head of long bone of foot" ], "HP:0005195": [ "polyarticular arthropathy" ], "HP:0005197": [ "generalize morning stiffness", "generalized morning stiffness", "generalise morning stiffness", "generalised morning stiffness" ], "HP:0005198": [ "stiff interphalangeal joint", "stiff interphalangeal joints", "stiff hinge joint", "stiff hinge joints" ], "HP:0005199": [ "aplasia of the abdominal wall musculature", "absent abdominal musculature" ], "HP:0005200": [ "retroperitoneal fibrosis" ], "HP:0005201": [ "anomalous splenoportal venous system" ], "HP:0005202": [ "helicobacter pylorus infection", "helicobacter pylori infection" ], "HP:0005203": [ "spontaneous esophageal perforation", "boerhaave syndrome", "spontaneous esophageal rupture" ], "HP:0005251": [ "spontaneous esophageal perforation", "boerhaave syndrome", "spontaneous esophageal rupture" ], "HP:0005206": [ "pancreatic pseudocyst" ], "HP:0005207": [ "gastric hypertrophy", "increase stomach size", "increased stomach size" ], "HP:0005208": [ "secretory diarrhea", "secretory diarrhoea" ], "HP:0005209": [ "intrahepatic bile duct cyst", "intrahepatic bile duct cysts" ], "HP:0005210": [ "hypoplastic colon", "hypoplasia of the colon", "underdeveloped colon" ], "HP:0005211": [ "midgut malrotation" ], "HP:0005212": [ "anal mucosal leukoplakia" ], "HP:0005213": [ "pancreatic calcification", "pancreatic calcifications" ], "HP:0005214": [ "intestinal obstruction", "bowel obstruction", "intestinal blockage" ], "HP:0005239": [ "intestinal obstruction", "bowel obstruction", "intestinal blockage" ], "HP:0005215": [ "frequent giardia lamblia infestation" ], "HP:0005216": [ "impaired mastication", "chew difficulty", "chewing difficulties", "chewing difficulty", "difficulty chew", "difficulty chewing" ], "HP:0005217": [ "duplication of internal organ", "duplication of internal organs" ], "HP:0005218": [ "anoperineal fistula", "perianal fistula" ], "HP:0005219": [ "absence of intrinsic factor", "intrinsic factor absent from gastric juice" ], "HP:0005220": [ "multiple intestinal neurofibromatosis" ], "HP:0005222": [ "bowel diverticulosis", "bowel diverticulum", "bowel diverticula" ], "HP:0005223": [ "duplicate colon", "duplicated colon" ], "HP:0005224": [ "rectal abscess", "perirectal abscess" ], "HP:0002567": [ "rectal abscess", "perirectal abscess" ], "HP:0005225": [ "intestinal edema", "intestinal oedema" ], "HP:0005227": [ "adenomatous colonic polyposis", "multiple adenomatous colon polyp", "multiple adenomatous colon polyps", "multiple colonic adenomatous polyp", "multiple colonic adenomatous polyps" ], "HP:0005226": [ "adenomatous colonic polyposis", "multiple adenomatous colon polyp", "multiple adenomatous colon polyps", "multiple colonic adenomatous polyp", "multiple colonic adenomatous polyps" ], "HP:0005229": [ "jejunoileal ulceration" ], "HP:0005230": [ "biliary tract obstruction" ], "HP:0005231": [ "chronic gastritis" ], "HP:0005232": [ "pancreatic dysplasia" ], "HP:0005233": [ "hypoplasia of the gallbladder", "hypoplastic gallbladder" ], "HP:0005234": [ "neonatal intestinal obstruction" ], "HP:0005235": [ "jejunal atresia" ], "HP:0011101": [ "jejunal atresia" ], "HP:0005236": [ "chronic calcifying pancreatitis" ], "HP:0005237": [ "degenerative liver disease" ], "HP:0005238": [ "discrete intestinal polyp", "discrete intestinal polyps" ], "HP:0005240": [ "esophageal obstruction" ], "HP:0005241": [ "total intestinal aganglionosis" ], "HP:0005242": [ "extrahepatic biliary duct atresia", "biliary atresia , extrahepatic" ], "HP:0006553": [ "extrahepatic biliary duct atresia", "biliary atresia , extrahepatic" ], "HP:0005243": [ "partial abdominal muscle agenesis" ], "HP:0005244": [ "gastrointestinal infarction", "gastrointestinal infarctions", "death of digestive organ tissue due to poor blood supply", "gi infarction", "gi infarctions" ], "HP:0005245": [ "intestinal hypoplasia", "hypoplastic intestine", "hypoplastic intestines", "underdeveloped instestine" ], "HP:0005246": [ "giant hypertrophic gastritis", "menetrier disease" ], "HP:0005247": [ "hypoplasia of the abdominal wall musculature", "abdominal muscular hypoplasia" ], "HP:0005248": [ "intrahepatic biliary atresia", "bile duct paucity", "intrahepatic atresia of biliary duct" ], "HP:0005249": [ "functional intestinal obstruction" ], "HP:0005250": [ "high intestinal obstruction" ], "HP:0005253": [ "increase anterioposterior diameter of thorax", "increased anterioposterior diameter of thorax", "increase anterioposterior diameter of chest", "increased anterioposterior diameter of chest" ], "HP:0005254": [ "unilateral chest hypoplasia", "small chest on one side", "underdeveloped chest on one side" ], "HP:0005255": [ "absence of pectoralis minor muscle", "pectoralis minor aplasia" ], "HP:0005256": [ "unilateral absence of pectoralis major muscle", "unilateral aplasia of pectoralis major muscle" ], "HP:0005257": [ "thoracic hypoplasia", "small chest", "small thorax" ], "HP:0001590": [ "thoracic hypoplasia", "small chest", "small thorax" ], "HP:0005258": [ "pectoral muscle hypoplasia / aplasia", "small / absent pec muscle", "underdeveloped / absent pec muscle" ], "HP:0005259": [ "abnormal facility in oppose the shoulder", "abnormal facility in opposing the shoulders" ], "HP:0005261": [ "joint hemorrhage", "bleed within a joint", "bleeding within a joint", "hemarthroses", "hemarthrosis", "joint haemorrhage", "spontaneous joint haemorrhage", "spontaneous joint hemorrhage" ], "HP:0001391": [ "joint hemorrhage", "bleed within a joint", "bleeding within a joint", "hemarthroses", "hemarthrosis", "joint haemorrhage", "spontaneous joint haemorrhage", "spontaneous joint hemorrhage" ], "HP:0005196": [ "joint hemorrhage", "bleed within a joint", "bleeding within a joint", "hemarthroses", "hemarthrosis", "joint haemorrhage", "spontaneous joint haemorrhage", "spontaneous joint hemorrhage" ], "HP:0005262": [ "abnormality of the synovia" ], "HP:0005263": [ "gastritis", "stomach inflammation" ], "HP:0005264": [ "abnormality of the gallbladder", "anomaly of the gallbladder" ], "HP:0005265": [ "abnormal jejunum morphology", "abnormality of the jejunum" ], "HP:0005266": [ "intestinal polyp", "intestinal polyps" ], "HP:0005267": [ "premature delivery because of cervical insufficiency or membrane fragility" ], "HP:0005268": [ "spontaneous abortion", "miscarriage" ], "HP:0005272": [ "prominent nasolabial fold", "deep laugh line", "deep laugh lines", "deep nasolabial crease", "deep nasolabial fold", "deep nasolabial groove", "deep smile line", "deep smile lines", "nasolabial crease , prominent", "prominent laugh line", "prominent laugh lines", "prominent nasolabial groove", "prominent smile line", "prominent smile lines" ], "HP:0005273": [ "absent nasal septal cartilage", "absent nasal septum", "ageneis of nasal septal cartilage", "failure of development of nasal septal cartilage" ], "HP:0005274": [ "prominent nasal tip", "bulbous tip of nose", "hyperplasia of nasal tip", "hyperplasia of tip of nose", "hypertrophy of nasal tip", "hypertrophy of tip of nose", "large nasal tip", "large tip of nose", "prominent tip of nose", "pronounce nasal tip", "pronounced nasal tip", "pronounced tip of nose" ], "HP:0005275": [ "cartilaginous ossification of nose", "cartilaginous nasal ossification" ], "HP:0005278": [ "hypoplastic nasal tip", "aplasia of nasal tip", "decreased size of nasal tip", "decreased size of tip of nose", "deficient nasal tip", "hypoplasia of tip of nose", "hypotrophic nasal tip", "hypotrophic tip of nose", "small nasal tip", "small tip of nose", "underdevelopment of nasal tip", "underdevelopment of tip of nose" ], "HP:0005280": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0000425": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0000428": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0000439": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0000459": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0004413": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0004505": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0004506": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0004666": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0005119": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0005284": [ "depress nasal bridge", "depressed nasal bridge", "concave bridge of nose", "concave nasal bridge", "depressed bridge of nose", "depress nasal root", "depressed nasal root", "depress nasal root / bridge", "depressed nasal root / bridge", "flat bridge of nose", "flat nasal bridge", "flat nasal root", "flat , nasal bridge", "flatten nasal bridge", "flattened nasal bridge", "low nasal bridge", "low nasal root", "retruded bridge of nose", "retruded nasal bridge" ], "HP:0005281": [ "hypoplastic nasal bridge", "decreased size of bridge of nose", "decreased size of nasal bridge", "hypoplastic bridge of nose", "hypotrophic bridge of nose", "hypotrophic nasal bridge", "small bridge of nose", "small nasal bridge" ], "HP:0005285": [ "absent nasal bridge", "absent bridge of nose", "agenesis of bridge of nose", "agenesis of nasal bridge", "miss bridge of nose", "missing bridge of nose", "miss nasal bridge", "missing nasal bridge" ], "HP:0005288": [ "abnormality of the naris", "abnormality of the nares", "abnormality of the nostril", "abnormality of the nostrils", "anomaly of the naris", "anomaly of the nares", "deformity of the naris", "deformity of the nares", "deformity of the nostril", "deformity of the nostrils", "malformation of the naris", "malformation of the nares", "malformation of the nostril", "malformation of the nostrils" ], "HP:0005289": [ "abnormality of the nasolabial region", "anomaly of the nasolabial region", "deformity of the nasolabial region", "malformation of the nasolabial region" ], "HP:0005290": [ "internal carotid artery hypoplasia", "aplasia of internal carotid artery", "decreased size of internal carotid artery", "deficiency of internal carotid artery", "hypotrophic internal carotid artery", "small internal carotid artery" ], "HP:0005291": [ "inflammatory arteriopathy" ], "HP:0005292": [ "intimal thickening in the coronary artery", "intimal thickening in the coronary arteries" ], "HP:0005293": [ "venous insufficiency", "poorly functioning vein", "poorly functioning veins" ], "HP:0005294": [ "arterial dissection" ], "HP:0005295": [ "pseudocoarctation of the aorta" ], "HP:0005297": [ "premature occlusive vascular stenosis" ], "HP:0005298": [ "obsolete atrioventricular canal defect with right ventricle aorta and pulmonary atresia", "atrioventricular canal defect", "atrioventricular septal defect", "endocardial cushion defect", "hole in center of heart", "hole in centre of heart" ], "HP:0005300": [ "nodular inflammatory vasculitis" ], "HP:0005301": [ "persistent leave superior vena cava", "persistent left superior vena cava" ], "HP:0005302": [ "carotid artery tortuosity", "tortuous carotid artery", "tortuous carotid arteries" ], "HP:0005303": [ "aortic arch calcification" ], "HP:0005304": [ "hypoplastic pulmonary vein", "hypoplastic pulmonary veins", "underdeveloped lung vein", "underdeveloped lung veins" ], "HP:0005305": [ "cerebral venous thrombosis", "blood clot in cerebral vein", "cerebral thrombosis", "cerebral vein thrombosis" ], "HP:0005306": [ "capillary hemangioma", "strawberry birthmark" ], "HP:0005307": [ "postural hypotension with compensatory tachycardia" ], "HP:0005308": [ "pulmonary artery vasoconstriction" ], "HP:0005310": [ "large vessel vasculitis" ], "HP:0005311": [ "agenesis of pulmonary vessel", "agenesis of pulmonary vessels", "absent lung vessel", "absent lung vessels" ], "HP:0005312": [ "pulmonary aterial intimal fibrosis" ], "HP:0005313": [ "arterial fibromuscular dysplasia" ], "HP:0005314": [ "anomalous branch of internal carotid artery", "anomalous branches of internal carotid artery" ], "HP:0005316": [ "peripheral pulmonary vessel aplasia" ], "HP:0005317": [ "increase pulmonary vascular resistance", "increased pulmonary vascular resistance" ], "HP:0005318": [ "cerebral vasculitis" ], "HP:0005320": [ "lack of facial subcutaneous fat", "lack of facial fat below the skin" ], "HP:0005321": [ "mandibulofacial dysostosis", "treacher collins syndrome" ], "HP:0005322": [ "prominent nasal septum", "low hang nasal septum", "low hanging nasal septum", "low hang septum of nose", "low hanging septum of nose", "prominent septum of nose", "visible nasal septum", "visible septum of nose" ], "HP:0005323": [ "hemifacial hypertrophy", "enlargement of half of face", "facial hemihyperplasia", "facial hemihypertophy", "friedreich 's disease", "hemifacial enlargement", "hypertrophy of half of face", "increase in size of half of face", "overgrowth of half of face" ], "HP:0005324": [ "disturbance of facial expression" ], "HP:0005325": [ "extension of hair growth on temple to lateral eyebrow", "extension of hair growth on temples to lateral eyebrow", "unusual hairline with hair growth on temple extend to lateral eyebrow", "unusual hairline with hair growth on temples extending to lateral eyebrow" ], "HP:0005326": [ "hypoplastic philtrum", "small philtrum" ], "HP:0005331": [ "hypoplastic philtrum", "small philtrum" ], "HP:0005327": [ "loss of facial expression" ], "HP:0005328": [ "progeroid facial appearance", "age facial appearance", "aged facial appearance", "premature age appearance", "premature aged appearance", "prematurely age face", "prematurely aged face", "prematurely age facial appearance", "prematurely aged facial appearance", "wizened face" ], "HP:0000335": [ "progeroid facial appearance", "age facial appearance", "aged facial appearance", "premature age appearance", "premature aged appearance", "prematurely age face", "prematurely aged face", "prematurely age facial appearance", "prematurely aged facial appearance", "wizened face" ], "HP:0005333": [ "progeroid facial appearance", "age facial appearance", "aged facial appearance", "premature age appearance", "premature aged appearance", "prematurely age face", "prematurely aged face", "prematurely age facial appearance", "prematurely aged facial appearance", "wizened face" ], "HP:0005329": [ "fix facial expression", "fixed facial expression", "unchanging facial expression" ], "HP:0005332": [ "recurrent mandibular subluxation", "recurrent mandibular subluxations" ], "HP:0005335": [ "sleepy facial expression", "somnolent facial expression" ], "HP:0005336": [ "forehead hyperpigmentation", "darkening of the forehead" ], "HP:0005338": [ "sparse lateral eyebrow", "lateral hypoplasia of eyebrow", "lateral hypoplasia of eyebrows", "lateral thinning of eyebrow", "lateral thinning of eyebrows", "laterally sparse eyebrow", "laterally sparse eyebrows", "limited hair on end of eyebrow", "sparse lateral eyebrows" ], "HP:0004521": [ "sparse lateral eyebrow", "lateral hypoplasia of eyebrow", "lateral hypoplasia of eyebrows", "lateral thinning of eyebrow", "lateral thinning of eyebrows", "laterally sparse eyebrow", "laterally sparse eyebrows", "limited hair on end of eyebrow", "sparse lateral eyebrows" ], "HP:0009923": [ "sparse lateral eyebrow", "lateral hypoplasia of eyebrow", "lateral hypoplasia of eyebrows", "lateral thinning of eyebrow", "lateral thinning of eyebrows", "laterally sparse eyebrow", "laterally sparse eyebrows", "limited hair on end of eyebrow", "sparse lateral eyebrows" ], "HP:0005339": [ "abnormality of complement system", "obsolete decrease activity of complement receptor", "obsolete decreased activity of complement receptor" ], "HP:0025541": [ "abnormality of complement system", "obsolete decrease activity of complement receptor", "obsolete decreased activity of complement receptor" ], "HP:0005340": [ "spastic / hyperactive bladder" ], "HP:0005341": [ "autonomic bladder dysfunction" ], "HP:0005343": [ "hypoplasia of the bladder", "hypoplastic bladder", "underdeveloped bladder" ], "HP:0005342": [ "hypoplasia of the bladder", "hypoplastic bladder", "underdeveloped bladder" ], "HP:0005344": [ "abnormal carotid artery morphology", "abnormality of the carotid artery", "abnormality of the carotid arteries" ], "HP:0005345": [ "abnormal vena cava morphology", "abnormality of the vena cava", "obsolete abnormal vena cava morphology" ], "HP:0030971": [ "abnormal vena cava morphology", "abnormality of the vena cava", "obsolete abnormal vena cava morphology" ], "HP:0005346": [ "abnormal facial expression" ], "HP:0005347": [ "cartilaginous trachea" ], "HP:0005348": [ "inspiratory stridor" ], "HP:0005349": [ "hypoplasia of the epiglottis", "hypoplastic epiglottis" ], "HP:0008746": [ "hypoplasia of the epiglottis", "hypoplastic epiglottis" ], "HP:0005352": [ "severe t - cell immunodeficiency" ], "HP:0005353": [ "recurrent herpes", "susceptibility to herpesvirus" ], "HP:0005354": [ "lack of t cell function", "absent cellular immunity" ], "HP:0005356": [ "decrease serum complement factor i", "decreased serum complement factor i" ], "HP:0005357": [ "defective b cell differentiation" ], "HP:0005359": [ "aplasia of the thymus", "absent thymic shadow", "absent thymus", "athymia", "lack of thymic shadow" ], "HP:0005360": [ "susceptibility to chickenpox" ], "HP:0005363": [ "humoral immunodeficiency" ], "HP:0005365": [ "severe b lymphocytopenia", "absence of b cell", "absence of b cells", "absent b cell", "absent b cells" ], "HP:0002856": [ "severe b lymphocytopenia", "absence of b cell", "absence of b cells", "absent b cell", "absent b cells" ], "HP:0005366": [ "recurrent streptococcus pneumoniae infection", "recurrent streptococcus pneumoniae infections" ], "HP:0005368": [ "abnormality of humoral immunity", "defective humoral immunity" ], "HP:0005369": [ "decrease serum complement factor h", "decreased serum complement factor h" ], "HP:0005372": [ "abnormality of b cell physiology", "reduce b cell function", "reduced b cell function" ], "HP:0005398": [ "abnormality of b cell physiology", "reduce b cell function", "reduced b cell function" ], "HP:0005374": [ "cellular immunodeficiency", "obsolete partial cellular immunodeficiency" ], "HP:0005375": [ "cellular immunodeficiency", "obsolete partial cellular immunodeficiency" ], "HP:0005376": [ "recurrent haemophilus influenzae infection", "recurrent haemophilus influenzae infections", "recurrent h. influenzae infection", "recurrent h. influenzae infections" ], "HP:0005379": [ "obsolete severe t lymphocytopenia" ], "HP:0005381": [ "recurrent meningococcal disease", "increase susceptibility to neisseria meningitidis infection", "increased susceptibility to neisseria meningitidis infections" ], "HP:0005414": [ "recurrent meningococcal disease", "increase susceptibility to neisseria meningitidis infection", "increased susceptibility to neisseria meningitidis infections" ], "HP:0005384": [ "defective b cell activation" ], "HP:0005386": [ "recurrent protozoan infection", "recurrent protozoan infections" ], "HP:0005387": [ "combine immunodeficiency", "combined immunodeficiency" ], "HP:0005389": [ "depletion of component of the alternative complement pathway", "depletion of components of the alternative complement pathway" ], "HP:0005390": [ "recurrent opportunistic infection", "recurrent opportunistic infections", "frequent opportunistic infection", "frequent opportunistic infections" ], "HP:0005426": [ "recurrent opportunistic infection", "recurrent opportunistic infections", "frequent opportunistic infection", "frequent opportunistic infections" ], "HP:0005396": [ "susceptibility to coronavirus 229e" ], "HP:0005397": [ "obsolete exaggerated cellular immune process", "obsolete exaggerated cellular immune processes" ], "HP:0005400": [ "reduction of neutrophil motility" ], "HP:0005401": [ "recurrent candida infection", "recurrent candida infections", "frequent candida infection", "frequent candida infections" ], "HP:0005402": [ "obsolete primary t - lymphocyte immune abnormality", "obsolete primary t - lymphocyte immune abnormalities", "abnormality of t cell physiology" ], "HP:0005403": [ "t lymphocytopenia", "decrease in t cell count", "decrease in t cell number", "decreased number of circulate t cell", "decreased numbers of circulating t cells", "low t cell count", "reduced number of t cell", "reduced number of t cells" ], "HP:0005412": [ "t lymphocytopenia", "decrease in t cell count", "decrease in t cell number", "decreased number of circulate t cell", "decreased numbers of circulating t cells", "low t cell count", "reduced number of t cell", "reduced number of t cells" ], "HP:0045071": [ "t lymphocytopenia", "decrease in t cell count", "decrease in t cell number", "decreased number of circulate t cell", "decreased numbers of circulating t cells", "low t cell count", "reduced number of t cell", "reduced number of t cells" ], "HP:0005404": [ "increase b cell count", "increased b cell count", "increase in b cell count", "increase in b cell number", "increased number of b cell", "increased number of b cells" ], "HP:0005406": [ "recurrent bacterial skin infection", "recurrent bacterial skin infections", "recurrent cutaneous pyogenic infection", "recurrent cutaneous pyogenic infections", "recurrent episode of impetigo", "recurrent episodes of impetigo", "recurrent episode of infectious dermatitis", "recurrent episodes of infectious dermatitis", "recurrent pyogenic skin infection", "recurrent pyogenic skin infections" ], "HP:0000983": [ "recurrent bacterial skin infection", "recurrent bacterial skin infections", "recurrent cutaneous pyogenic infection", "recurrent cutaneous pyogenic infections", "recurrent episode of impetigo", "recurrent episodes of impetigo", "recurrent episode of infectious dermatitis", "recurrent episodes of infectious dermatitis", "recurrent pyogenic skin infection", "recurrent pyogenic skin infections" ], "HP:0005407": [ "decreased proportion of cd4 - positive helper t cell", "decreased proportion of cd4 - positive helper t cells", "abnormality of cd4+ t cell", "abnormality of cd4+ t cells", "cd4 t cell lymphopenia", "cd4+ t - cell lymphopenia" ], "HP:0005480": [ "decreased proportion of cd4 - positive helper t cell", "decreased proportion of cd4 - positive helper t cells", "abnormality of cd4+ t cell", "abnormality of cd4+ t cells", "cd4 t cell lymphopenia", "cd4+ t - cell lymphopenia" ], "HP:0005409": [ "obsolete markedly reduce t cell function", "obsolete markedly reduced t cell function", "impaired t cell function", "t - cell dysfunction" ], "HP:0005411": [ "chronic intestinal candidiasis", "candida overgrowth syndrome" ], "HP:0005413": [ "increase alpha - globulin", "increased alpha - globulin" ], "HP:0005415": [ "decreased proportion of cd8 - positive t cell", "decreased proportion of cd8 - positive t cells", "cd8+ t - cell lymphopenia", "decreased proportion of cd8+ t cell", "decreased proportion of cd8+ t cells", "decreased proportion of cd8 - positive , alpha - beta t cell", "decreased proportion of cd8 - positive , alpha - beta t cells" ], "HP:0005481": [ "decreased proportion of cd8 - positive t cell", "decreased proportion of cd8 - positive t cells", "cd8+ t - cell lymphopenia", "decreased proportion of cd8+ t cell", "decreased proportion of cd8+ t cells", "decreased proportion of cd8 - positive , alpha - beta t cell", "decreased proportion of cd8 - positive , alpha - beta t cells" ], "HP:0005416": [ "decrease serum complement factor b", "decreased serum complement factor b", "decrease serum factor b", "decreased serum factor b" ], "HP:0005419": [ "decrease t cell activation", "decreased t cell activation", "decrease t lymphocyte activation", "decreased t lymphocyte activation", "decrease t - cell activation", "decreased t - cell activation", "decrease t - lymphocyte activation", "decreased t - lymphocyte activation", "defective t cell activation", "profound depletion of t4+ lymphocyte", "profound depletion of t4+ lymphocytes" ], "HP:0005370": [ "decrease t cell activation", "decreased t cell activation", "decrease t lymphocyte activation", "decreased t lymphocyte activation", "decrease t - cell activation", "decreased t - cell activation", "decrease t - lymphocyte activation", "decreased t - lymphocyte activation", "defective t cell activation", "profound depletion of t4+ lymphocyte", "profound depletion of t4+ lymphocytes" ], "HP:0005436": [ "decrease t cell activation", "decreased t cell activation", "decrease t lymphocyte activation", "decreased t lymphocyte activation", "decrease t - cell activation", "decreased t - cell activation", "decrease t - lymphocyte activation", "decreased t - lymphocyte activation", "defective t cell activation", "profound depletion of t4+ lymphocyte", "profound depletion of t4+ lymphocytes" ], "HP:0005420": [ "recurrent gram - negative bacterial infection", "recurrent gram - negative bacterial infections" ], "HP:0005395": [ "recurrent gram - negative bacterial infection", "recurrent gram - negative bacterial infections" ], "HP:0005421": [ "decrease serum complement c3", "decreased serum complement c3", "decrease serum c3", "decreased serum c3", "decrease serum complement c3 level", "decreased serum complement c3 level" ], "HP:0005408": [ "decrease serum complement c3", "decreased serum complement c3", "decrease serum c3", "decreased serum c3", "decrease serum complement c3 level", "decreased serum complement c3 level" ], "HP:0005422": [ "absence of cd8 - positive t cell", "absence of cd8 - positive t cells", "absence of cd8+ t cell", "absence of cd8+ t cells" ], "HP:0005423": [ "dysfunctional alternative complement pathway" ], "HP:0005424": [ "absent specific antibody response" ], "HP:0005425": [ "recurrent sinopulmonary infection", "recurrent sinopulmonary infections", "chronic sinopulmonary infection", "recurrent sinus and lung infection", "recurrent sinus and lung infections" ], "HP:0005428": [ "severe recurrent varicella" ], "HP:0005429": [ "recurrent systemic pyogenic infection", "recurrent systemic pyogenic infections" ], "HP:0005430": [ "recurrent neisserial infection", "recurrent neisserial infections", "episode of neisserial infection", "episodes of neisserial infection", "recurrent neisseria infection", "recurrent neisseria infections" ], "HP:0005377": [ "recurrent neisserial infection", "recurrent neisserial infections", "episode of neisserial infection", "episodes of neisserial infection", "recurrent neisseria infection", "recurrent neisseria infections" ], "HP:0005378": [ "recurrent neisserial infection", "recurrent neisserial infections", "episode of neisserial infection", "episodes of neisserial infection", "recurrent neisseria infection", "recurrent neisseria infections" ], "HP:0005432": [ "transient hypogammaglobulinemia of infancy", "newborn gammaglobulin deficiency" ], "HP:0005435": [ "obsolete markedly reduce t cell function", "obsolete markedly reduced t cell function", "impaired t cell function", "t - cell dysfunction" ], "HP:0002844": [ "impaired t cell function", "t - cell dysfunction" ], "HP:0005373": [ "impaired t cell function", "t - cell dysfunction" ], "HP:0005383": [ "impaired t cell function", "t - cell dysfunction" ], "HP:0005437": [ "recurrent infection in infancy and early childhood", "recurrent infections in infancy and early childhood" ], "HP:0005439": [ "maxillozygomatic hypoplasia", "decreased projection of zygomaticomaxillary bone complex", "decreased size of zygomaticomaxillary bone complex", "deficiency of zygomaticomaxillary bone complex", "hypoplasia of malar bone complex", "hypoplasia of zygomaticomaxillary complex", "underdevelopment of zygomaticomaxillary bone complex" ], "HP:0005441": [ "sclerotic cranial suture", "sclerotic cranial sutures" ], "HP:0005442": [ "widely patent coronal suture" ], "HP:0005445": [ "enlarge posterior fossa", "enlarged posterior fossa", "widen posterior fossa", "widened posterior fossa" ], "HP:0005446": [ "obtuse angle of mandible", "high mandibular plane angle", "steep mandibular plane angle" ], "HP:0005449": [ "bridge sella turcica", "bridged sella turcica" ], "HP:0005450": [ "calvarial osteosclerosis" ], "HP:0005451": [ "decrease cranial base ossification", "decreased cranial base ossification" ], "HP:0005453": [ "absent / hypoplastic paranasal sinus", "absent / hypoplastic paranasal sinuses" ], "HP:0005456": [ "absent ethmoidal sinus", "absent ethmoidal sinuses", "agenesis of ethmoid sinus", "agenesis of ethmoid sinuses", "failure of development of ethmoid sinus", "failure of development of ethmoid sinuses", "miss ethmoid sinus", "missing ethmoid sinuses" ], "HP:0005458": [ "premature closure of fontanelle", "premature closure of fontanelles", "early closure of the bregma suture", "early closure of the bregma sutures", "early closure of the cranial suture", "early closure of the cranial sutures", "early closure of the fontanelle", "early closure of the fontanelles", "obliterate fontanelle", "obliterated fontanelles", "premature closure of the bregma suture", "premature closure of the bregma sutures", "premature closure of the cranial suture", "premature closure of the cranial sutures" ], "HP:0005461": [ "craniofacial disproportion" ], "HP:0005462": [ "calcification of falx cerebri" ], "HP:0005463": [ "elongate sella turcica", "elongated sella turcica" ], "HP:0005464": [ "craniofacial osteosclerosis", "cranial sclerosis" ], "HP:0005465": [ "facial hyperostosis", "enlargement of facial bone", "enlargement of facial bones", "enlargement of facial skeleton", "enlargment of the facial bone", "enlargment of the facial bones", "excessive growth of facial bone", "excessive growth of facial bones", "excessive growth of facial skeleton", "hyperostosis of facial bone", "hyperostosis of facial bones", "hyperostosis of facial skeleton", "hypertrophy of facial bone", "hypertrophy of facial bones", "hypertrophy of facial skeleton", "hypertrophy of the facial bone", "hypertrophy of the facial bones", "increase in size of the facial bone", "increase in size of the facial bones", "increase ossification of facial bone", "increased ossification of facial bones", "increase ossification of facial skeleton", "increased ossification of facial skeleton", "overgrowth of facial bone", "overgrowth of facial bones", "overgrowth of facial skeleton", "overgrowth of the facial bone", "overgrowth of the facial bones" ], "HP:0008508": [ "facial hyperostosis", "enlargement of facial bone", "enlargement of facial bones", "enlargement of facial skeleton", "enlargment of the facial bone", "enlargment of the facial bones", "excessive growth of facial bone", "excessive growth of facial bones", "excessive growth of facial skeleton", "hyperostosis of facial bone", "hyperostosis of facial bones", "hyperostosis of facial skeleton", "hypertrophy of facial bone", "hypertrophy of facial bones", "hypertrophy of facial skeleton", "hypertrophy of the facial bone", "hypertrophy of the facial bones", "increase in size of the facial bone", "increase in size of the facial bones", "increase ossification of facial bone", "increased ossification of facial bones", "increase ossification of facial skeleton", "increased ossification of facial skeleton", "overgrowth of facial bone", "overgrowth of facial bones", "overgrowth of facial skeleton", "overgrowth of the facial bone", "overgrowth of the facial bones" ], "HP:0005466": [ "hypoplasia of the frontal bone", "decreased size of bone of forehead", "hypoplastic frontal bone", "hypoplastic frontal bones", "hypotrophic frontal bone", "hypotrophic frontal bones", "small bone of forehead", "thin bone of forehead", "underdevelopment of bone of forehead" ], "HP:0005493": [ "hypoplasia of the frontal bone", "decreased size of bone of forehead", "hypoplastic frontal bone", "hypoplastic frontal bones", "hypotrophic frontal bone", "hypotrophic frontal bones", "small bone of forehead", "thin bone of forehead", "underdevelopment of bone of forehead" ], "HP:0005469": [ "flat occiput", "flat back of skull", "flat back of the head", "flat back of the skull", "flat posterior cranium", "flat posterior head", "posterior flattening of the skull" ], "HP:0000247": [ "flat occiput", "flat back of skull", "flat back of the head", "flat back of the skull", "flat posterior cranium", "flat posterior head", "posterior flattening of the skull" ], "HP:0000249": [ "flat occiput", "flat back of skull", "flat back of the head", "flat back of the skull", "flat posterior cranium", "flat posterior head", "posterior flattening of the skull" ], "HP:0005472": [ "orbital craniosynostosis" ], "HP:0005473": [ "fusion of middle ear ossicle", "fusion of middle ear ossicles" ], "HP:0005474": [ "decrease calvarial ossification", "decreased calvarial ossification", "poorly ossify calvaria", "poorly ossified calvaria", "poorly ossify calvarium", "poorly ossified calvarium", "skull soft on palpation", "soft calvaria", "soft skullcap", "undermineralized calvarium" ], "HP:0002701": [ "decrease calvarial ossification", "decreased calvarial ossification", "poorly ossify calvaria", "poorly ossified calvaria", "poorly ossify calvarium", "poorly ossified calvarium", "skull soft on palpation", "soft calvaria", "soft skullcap", "undermineralized calvarium" ], "HP:0002702": [ "decrease calvarial ossification", "decreased calvarial ossification", "poorly ossify calvaria", "poorly ossified calvaria", "poorly ossify calvarium", "poorly ossified calvarium", "skull soft on palpation", "soft calvaria", "soft skullcap", "undermineralized calvarium" ], "HP:0005454": [ "decrease calvarial ossification", "decreased calvarial ossification", "poorly ossify calvaria", "poorly ossified calvaria", "poorly ossify calvarium", "poorly ossified calvarium", "skull soft on palpation", "soft calvaria", "soft skullcap", "undermineralized calvarium" ], "HP:0005471": [ "decrease calvarial ossification", "decreased calvarial ossification", "poorly ossify calvaria", "poorly ossified calvaria", "poorly ossify calvarium", "poorly ossified calvarium", "skull soft on palpation", "soft calvaria", "soft skullcap", "undermineralized calvarium" ], "HP:0005476": [ "widely patent sagittal suture" ], "HP:0005477": [ "progressive sclerosis of skull base" ], "HP:0005478": [ "prominent frontal sinus", "prominent frontal sinuses", "hyperplasia of frontal sinus", "hypertrophy of frontal sinus", "increase size of frontal sinus", "increased size of frontal sinus", "increased volume of frontal sinus", "large frontal sinus" ], "HP:0005479": [ "decrease circulating ige", "decreased circulating ige", "decrease ige", "decreased ige", "ige deficiency" ], "HP:0002854": [ "decrease circulating ige", "decreased circulating ige", "decrease ige", "decreased ige", "ige deficiency" ], "HP:0005482": [ "abnormality of the alternative complement pathway" ], "HP:0005483": [ "abnormal epiglottis morphology", "abnormality of the epiglottis" ], "HP:0005484": [ "secondary microcephaly", "acquire microcephaly", "acquired microcephaly", "deceleration of head growth", "development of small head that be not present at birth", "development of small head that was not present at birth", "microcephaly , acquire", "microcephaly , acquired", "microcephaly , postnatal", "postnatal deceleration of head circumference", "postnatal microcephaly" ], "HP:0000241": [ "secondary microcephaly", "acquire microcephaly", "acquired microcephaly", "deceleration of head growth", "development of small head that be not present at birth", "development of small head that was not present at birth", "microcephaly , acquire", "microcephaly , acquired", "microcephaly , postnatal", "postnatal deceleration of head circumference", "postnatal microcephaly" ], "HP:0000259": [ "secondary microcephaly", "acquire microcephaly", "acquired microcephaly", "deceleration of head growth", "development of small head that be not present at birth", "development of small head that was not present at birth", "microcephaly , acquire", "microcephaly , acquired", "microcephaly , postnatal", "postnatal deceleration of head circumference", "postnatal microcephaly" ], "HP:0005499": [ "secondary microcephaly", "acquire microcephaly", "acquired microcephaly", "deceleration of head growth", "development of small head that be not present at birth", "development of small head that was not present at birth", "microcephaly , acquire", "microcephaly , acquired", "microcephaly , postnatal", "postnatal deceleration of head circumference", "postnatal microcephaly" ], "HP:0005486": [ "small fontanelle", "little cranial suture", "little cranial sutures", "little fontanelle", "microfontanelle", "small bregma suture", "small bregma sutures", "small cranial suture", "small cranial sutures", "small soft spot" ], "HP:0005487": [ "prominent metopic ridge", "prominent frontal ridge", "prominent frontal suture", "prominent metopic suture", "ridging of frontal suture", "ridging of metopic suture" ], "HP:0005488": [ "prominent metopic ridge", "prominent frontal ridge", "prominent frontal suture", "prominent metopic suture", "ridging of frontal suture", "ridging of metopic suture" ], "HP:0005751": [ "prominent metopic ridge", "prominent frontal ridge", "prominent frontal suture", "prominent metopic suture", "ridging of frontal suture", "ridging of metopic suture" ], "HP:0005490": [ "postnatal macrocephaly", "macrocephaly , postnatal" ], "HP:0005494": [ "premature posterior fontanelle closure" ], "HP:0005495": [ "metopic suture patent to nasal root" ], "HP:0005498": [ "midline skin dimple over anterior / posterior fontanelle", "midline skin dimples over anterior / posterior fontanelles" ], "HP:0005502": [ "increase red cell osmotic fragility", "increased red cell osmotic fragility", "increase erythrocyte osmotic fragility", "increased erythrocyte osmotic fragility", "increase red cell fragility", "increased red cell fragility" ], "HP:0005505": [ "refractory anemia", "refractory anaemia" ], "HP:0005506": [ "chronic myelogenous leukemia", "chronic myelocytic leukaemia", "chronic myelocytic leukemia", "chronic myelogenous leukaemia", "chronic myeloid leukaemia", "chronic myeloid leukemia" ], "HP:0005544": [ "chronic myelogenous leukemia", "chronic myelocytic leukaemia", "chronic myelocytic leukemia", "chronic myelogenous leukaemia", "chronic myeloid leukaemia", "chronic myeloid leukemia" ], "HP:0005507": [ "hemoglobin bart", "hemoglobin barts", "haemoglobin bart", "haemoglobin barts", "hb bart", "hb barts" ], "HP:0005508": [ "monoclonal immunoglobulin m proteinemia", "waldenstrom macroglobulinemia" ], "HP:0005510": [ "transient erythroblastopenia", "transient decrease in blood erythrocyte number" ], "HP:0005511": [ "heinz body anemia", "heinz body anaemia" ], "HP:0005512": [ "impaired neutrophil killing of staphylococci" ], "HP:0005513": [ "increase megakaryocyte count", "increased megakaryocyte count" ], "HP:0005517": [ "t - cell lymphoma / leukemia" ], "HP:0005518": [ "increase mean corpuscular volume", "increased mean corpuscular volume", "erythrocyte macrocytosis", "increase mcv", "increased mcv" ], "HP:0005536": [ "increase mean corpuscular volume", "increased mean corpuscular volume", "erythrocyte macrocytosis", "increase mcv", "increased mcv" ], "HP:0005520": [ "chronic disseminate intravascular coagulation", "chronic disseminated intravascular coagulation", "chronic consumption coagulopathy", "compensate disseminate intravascular coagulation", "compensated disseminated intravascular coagulation" ], "HP:0005521": [ "disseminate intravascular coagulation", "disseminated intravascular coagulation" ], "HP:0005522": [ "pyridoxine - responsive sideroblastic anemia", "pyridoxine - responsive sideroblastic anaemia" ], "HP:0005523": [ "lymphoproliferative disorder", "lymphoproliferative disorders" ], "HP:0005524": [ "macrocytic hemolytic disease" ], "HP:0005525": [ "spontaneous hemolytic crisis", "spontaneous hemolytic crises" ], "HP:0005526": [ "lymphoid leukemia", "lymphoid leukaemia" ], "HP:0005527": [ "reduce kininogen activity", "reduced kininogen activity", "fitzgerald factor deficiency", "kininogen deficiency", "williams factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ], "HP:0004867": [ "reduce kininogen activity", "reduced kininogen activity", "fitzgerald factor deficiency", "kininogen deficiency", "williams factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ], "HP:0005500": [ "reduce kininogen activity", "reduced kininogen activity", "fitzgerald factor deficiency", "kininogen deficiency", "williams factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ], "HP:0005530": [ "reduce kininogen activity", "reduced kininogen activity", "fitzgerald factor deficiency", "kininogen deficiency", "williams factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ], "HP:0005538": [ "reduce kininogen activity", "reduced kininogen activity", "fitzgerald factor deficiency", "kininogen deficiency", "williams factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ], "HP:0005528": [ "bone marrow hypocellularity", "bone marrow failure", "bone marrow hypoplasia", "hypoplastic bone marrow" ], "HP:0005529": [ "bone marrow hypocellularity", "bone marrow failure", "bone marrow hypoplasia", "hypoplastic bone marrow" ], "HP:0100549": [ "bone marrow hypocellularity", "bone marrow failure", "bone marrow hypoplasia", "hypoplastic bone marrow" ], "HP:0005531": [ "biphenotypic acute leukemia", "acute biphenotypic leukaemia", "biphenotypic acute leukaemia", "myeloid / lymphoid leukaemia", "myeloid / lymphoid leukemia" ], "HP:0005532": [ "macrocytic dyserythropoietic anemia", "macrocytic dyserythropoietic anaemia" ], "HP:0005534": [ "transient myeloproliferative syndrome", "transient leukaemia of down syndrome", "transient leukemia of down syndrome", "transient myeloproliferative disorder" ], "HP:0005535": [ "exercise - induced hemolysis" ], "HP:0005537": [ "decrease mean platelet volume", "decreased mean platelet volume", "small platelet size", "small platelet", "small platelets", "small platelets size" ], "HP:0001938": [ "decrease mean platelet volume", "decreased mean platelet volume", "small platelet size", "small platelet", "small platelets", "small platelets size" ], "HP:0005539": [ "t cell chronic lymphocytic lymphoma / leukemia" ], "HP:0005540": [ "red blood cell keratocytosis", "distort red blood cell resemble keratocytes", "distorted red blood cells resembling keratocytes", "rbc keratocytosis" ], "HP:0005541": [ "congenital agranulocytosis" ], "HP:0005542": [ "prolonged whole - blood clotting time", "prolong clotting time", "prolonged clotting time" ], "HP:0003229": [ "prolonged whole - blood clotting time", "prolong clotting time", "prolonged clotting time" ], "HP:0005543": [ "reduce protein c activity", "reduced protein c activity", "protein c deficiency" ], "HP:0005546": [ "increase red cell osmotic resistance", "increased red cell osmotic resistance" ], "HP:0005547": [ "myeloproliferative disorder" ], "HP:0005548": [ "megakaryocytopenia" ], "HP:0005549": [ "obsolete congenital neutropenia" ], "HP:0005550": [ "chronic lymphatic leukemia", "chronic lymphatic leukaemia", "chronic lymphocytic leukaemia", "chronic lymphocytic leukemia" ], "HP:0006734": [ "chronic lymphatic leukemia", "chronic lymphatic leukaemia", "chronic lymphocytic leukaemia", "chronic lymphocytic leukemia" ], "HP:0006760": [ "chronic lymphatic leukemia", "chronic lymphatic leukaemia", "chronic lymphocytic leukaemia", "chronic lymphocytic leukemia" ], "HP:0005556": [ "abnormality of the metopic suture" ], "HP:0005557": [ "abnormality of the zygomatic arch", "abnormality of the malar arch", "anomaly of the malar arch", "anomaly of the zygomatic arch", "deformity of the malar arch", "deformity of the zygomatic arch", "malformation of the malar arch", "malformation of the zygomatic arch" ], "HP:0005558": [ "chronic leukemia", "chronic blood cancer", "chronic leukaemia" ], "HP:0005559": [ "abnormality of the kinin - kallikrein system" ], "HP:0005560": [ "imbalanced hemoglobin synthesis", "imbalanced haemoglobin synthesis", "imbalanced hb synthesis" ], "HP:0005561": [ "abnormality of bone marrow cell morphology", "anomaly of the bone marrow cell", "anomaly of the bone marrow cells", "bone marrow disease" ], "HP:0005562": [ "multiple renal cyst", "multiple renal cysts", "multiple kidney cyst", "multiple kidney cysts" ], "HP:0005563": [ "decreased number of nephron", "decreased numbers of nephrons", "decreased number of glomerulus", "decreased numbers of glomeruli", "oligonephronia" ], "HP:0005564": [ "absence of renal corticomedullary differentiation", "absent renal corticomedullary differentiation", "loss of corticomedullary differentiation" ], "HP:0005581": [ "absence of renal corticomedullary differentiation", "absent renal corticomedullary differentiation", "loss of corticomedullary differentiation" ], "HP:0005565": [ "reduce renal corticomedullary differentiation", "reduced renal corticomedullary differentiation", "loss of definition of corticomedullary differentiation" ], "HP:0005573": [ "reduce renal corticomedullary differentiation", "reduced renal corticomedullary differentiation", "loss of definition of corticomedullary differentiation" ], "HP:0005567": [ "renal magnesium wasting" ], "HP:0005571": [ "increase renal tubular phosphate reabsorption", "increased renal tubular phosphate reabsorption", "increase percent tubular reabsorption of phosphorus", "increased percent tubular reabsorption of phosphorus" ], "HP:0005572": [ "decrease renal tubular phosphate excretion", "decreased renal tubular phosphate excretion" ], "HP:0005574": [ "non - acidotic proximal tubulopathy" ], "HP:0005575": [ "hemolytic - uremic syndrome", "hemolytic uremic syndrome" ], "HP:0005576": [ "tubulointerstitial fibrosis", "tubulointerstitial renal fibrosis", "tubulointerstitial scarring" ], "HP:0000129": [ "tubulointerstitial fibrosis", "tubulointerstitial renal fibrosis", "tubulointerstitial scarring" ], "HP:0004714": [ "tubulointerstitial fibrosis", "tubulointerstitial renal fibrosis", "tubulointerstitial scarring" ], "HP:0008171": [ "tubulointerstitial fibrosis", "tubulointerstitial renal fibrosis", "tubulointerstitial scarring" ], "HP:0005579": [ "impaired reabsorption of chloride", "impaired reabsorption of cl", "impaired reabsorption of cl -" ], "HP:0005580": [ "duplication of renal pelvis" ], "HP:0005583": [ "tubular basement membrane disintegration", "disintegration of the tubular basement membrane" ], "HP:0005577": [ "tubular basement membrane disintegration", "disintegration of the tubular basement membrane" ], "HP:0005584": [ "renal cell carcinoma", "cancer start in small tube in kidney", "cancer starting in small tubes in kidneys", "hypernephroma", "renal carcinoma" ], "HP:0006720": [ "renal cell carcinoma", "cancer start in small tube in kidney", "cancer starting in small tubes in kidneys", "hypernephroma", "renal carcinoma" ], "HP:0005585": [ "spotty hyperpigmentation", "patchy hyperpigmentation", "spotty increase pigmentation", "spotty increased pigmentation" ], "HP:0005586": [ "hyperpigmentation in sun - expose area", "hyperpigmentation in sun - exposed areas", "hyperpigmentation of expose area", "hyperpigmentation of exposed areas", "increase pigmentation in sun - expose area", "increased pigmentation in sun - exposed areas" ], "HP:0005587": [ "profuse pigment skin lesion", "profuse pigmented skin lesions" ], "HP:0005588": [ "patchy palmoplantar hyperkeratosis", "palmoplantar keratoderma , patchy", "patchy palmoplantar keratoderma" ], "HP:0005590": [ "spotty hypopigmentation", "patchy depigmentation", "patchy hypopigmentation", "spotty decrease pigmentation", "spotty decreased pigmentation" ], "HP:0005592": [ "giant melanosomes in melanocyte", "giant melanosomes in melanocytes", "macromelanosomes" ], "HP:0003342": [ "giant melanosomes in melanocyte", "giant melanosomes in melanocytes", "macromelanosomes" ], "HP:0005593": [ "macular hypopigmented whorl , streak , and patch", "macular hypopigmented whorls , streaks , and patches" ], "HP:0005595": [ "generalize hyperkeratosis", "generalized hyperkeratosis", "generalise hyperkeratosis", "generalised hyperkeratosis", "hyperkeratosis , generalise", "hyperkeratosis , generalised", "hyperkeratosis , generalize", "hyperkeratosis , generalized" ], "HP:0005597": [ "congenital alopecia totalis" ], "HP:0005598": [ "facial telangiectasia in butterfly midface distribution", "butterfly facial telangiectasia" ], "HP:0005599": [ "hypopigmentation of hair", "hair hypopigmentation", "loss of hair color", "loss of hair colour" ], "HP:0005600": [ "congenital giant melanocytic nevus", "giant pigment hairy nevus", "giant pigmented hairy nevus", "giant pigment mole", "giant pigmented mole", "giant pigment nevus", "giant pigmented nevus" ], "HP:0005604": [ "congenital giant melanocytic nevus", "giant pigment hairy nevus", "giant pigmented hairy nevus", "giant pigment mole", "giant pigmented mole", "giant pigment nevus", "giant pigmented nevus" ], "HP:0005602": [ "progressive vitiligo" ], "HP:0005603": [ "numerous congenital melanocytic nevus", "numerous congenital melanocytic nevi" ], "HP:0005605": [ "large cafe - au - lait macule with irregular margin", "large cafe - au - lait macules with irregular margins" ], "HP:0005606": [ "hyperpigmented nevus and streak", "hyperpigmented nevi and streak" ], "HP:0005607": [ "abnormal tracheobronchial morphology", "tracheobronchial anomaly", "tracheobronchial anomalies" ], "HP:0005940": [ "abnormal tracheobronchial morphology", "tracheobronchial anomaly", "tracheobronchial anomalies" ], "HP:0005608": [ "bilobate gallbladder", "bilobed gallbladder", "double gallbladder", "gallbladder duplication" ], "HP:0005609": [ "gallbladder dysfunction" ], "HP:0005612": [ "arthrogryposis - like hand anomaly" ], "HP:0005613": [ "aplasia / hypoplasia of the femur", "absent / small thighbone", "absent / underdevelop thighbone", "absent / underdeveloped thighbone", "hypoplastic to absent femur", "hypoplastic to absent femora", "hypoplastic / aplastic femur", "hypoplastic / aplastic femora" ], "HP:0006396": [ "aplasia / hypoplasia of the femur", "absent / small thighbone", "absent / underdevelop thighbone", "absent / underdeveloped thighbone", "hypoplastic to absent femur", "hypoplastic to absent femora", "hypoplastic / aplastic femur", "hypoplastic / aplastic femora" ], "HP:0006425": [ "aplasia / hypoplasia of the femur", "absent / small thighbone", "absent / underdevelop thighbone", "absent / underdeveloped thighbone", "hypoplastic to absent femur", "hypoplastic to absent femora", "hypoplastic / aplastic femur", "hypoplastic / aplastic femora" ], "HP:0005616": [ "accelerate skeletal maturation", "accelerated skeletal maturation", "advanced bone age", "early bone maturation" ], "HP:0002649": [ "accelerate skeletal maturation", "accelerated skeletal maturation", "advanced bone age", "early bone maturation" ], "HP:0005854": [ "accelerate skeletal maturation", "accelerated skeletal maturation", "advanced bone age", "early bone maturation" ], "HP:0005617": [ "bilateral camptodactyly" ], "HP:0005619": [ "thoracolumbar kyphosis", "thoracolumbar gibbus", "thoracolumbar gibbus deformity" ], "HP:0003439": [ "thoracolumbar kyphosis", "thoracolumbar gibbus", "thoracolumbar gibbus deformity" ], "HP:0005620": [ "hypermobility of interphalangeal joint", "hypermobility of interphalangeal joints", "increase mobility of hinge joint", "increased mobility of hinge joints" ], "HP:0005621": [ "trapezoidal shape vertebral body", "trapezoidal shaped vertebral bodies" ], "HP:0005622": [ "broad long bone", "broad long bones", "wide long bone", "wide long bones", "widen long bone", "widened long bones" ], "HP:0005623": [ "absent ossification of calvaria", "absent bone maturation of skullcap", "absent ossification of skull vault" ], "HP:0005625": [ "osteoporosis of vertebra", "osteoporosis of vertebrae" ], "HP:0005626": [ "posterior fusion of lumbosacral vertebra", "posterior fusion of lumbosacral vertebrae" ], "HP:0005627": [ "type d brachydactyly", "brachydactyly type d" ], "HP:0005632": [ "absent forearm", "absent forearms" ], "HP:0005638": [ "decrease anterioposterior diameter of lumbar vertebral body", "decreased anterioposterior diameter of lumbar vertebral bodies" ], "HP:0005639": [ "hyperextensible hand joint", "hyperextensible hand joints" ], "HP:0005640": [ "abnormal vertebral segmentation and fusion" ], "HP:0005643": [ "short 3rd toe", "brachydactyly of third toe", "brachydactyly of third toes", "short third toe" ], "HP:0005645": [ "intervertebral disk calcification", "intervertebral disc calcification", "multiple intervertebral disc calcification", "multiple intervertebral disc calcifications", "multiple intervertebral disk calcification", "multiple intervertebral disk calcifications" ], "HP:0005648": [ "bilateral ulnar hypoplasia" ], "HP:0005650": [ "cutaneous syndactyly between finger 2 and 5", "cutaneous syndactyly between fingers 2 and 5" ], "HP:0005652": [ "cortical sclerosis" ], "HP:0005653": [ "moderate generalize osteoporosis", "moderate generalized osteoporosis", "moderate generalise osteoporosis", "moderate generalised osteoporosis" ], "HP:0005655": [ "multiple digital exostosis", "multiple digital exostoses" ], "HP:0005656": [ "positional foot deformity" ], "HP:0005659": [ "thoracic kyphoscoliosis" ], "HP:0005661": [ "salmonella osteomyelitis", "salmonella bone infection" ], "HP:0005665": [ "massively thicken long bone cortex", "massively thickened long bone cortices" ], "HP:0005667": [ "o odontoideum", "os odontoideum" ], "HP:0005671": [ "bilateral intracerebral calcification", "bilateral intracerebral calcifications", "bilateral intracranial calcification", "bilateral intracranial calcifications" ], "HP:0005676": [ "rudimentary postaxial polydactyly of hand", "rudimentary postaxial polydactyly of hands" ], "HP:0005678": [ "anterior atlanto - occipital dislocation" ], "HP:0005679": [ "dupuytren contracture" ], "HP:0005680": [ "tongue - like lumbar vertebral deformity", "tongue - like lumbar vertebral deformities" ], "HP:0005681": [ "juvenile rheumatoid arthritis", "juvenile idiopathic arthritis", "juvenile ra", "rheumatoid arthritis , juvenile" ], "HP:0005682": [ "talocalcaneal synostosis", "fusion of foot joint", "fusion of the subtalar joint" ], "HP:0005684": [ "distal arthrogryposis" ], "HP:0005686": [ "patchy osteosclerosis", "patchy increase of bone mineral density", "uneven increase in bone density" ], "HP:0005687": [ "deform humeral head", "deformed humeral heads", "deform head of long bone in upper arm", "deformed head of long bone in upper arm" ], "HP:0005688": [ "dysplastic distal thumb phalanx with a central hole", "dysplastic distal thumb phalanges with a central hole" ], "HP:0005689": [ "dermatoglyphic ridge abnormal", "dermatoglyphic ridges abnormal" ], "HP:0005692": [ "joint hyperflexibility", "joint move beyond expect range of motion", "joints move beyond expected range of motion" ], "HP:0005694": [ "partial fusion of proximal row of carpal bone", "partial fusion of proximal row of carpal bones", "partial fusion of innermost row of wrist bone", "partial fusion of innermost row of wrist bones" ], "HP:0005696": [ "postaxial polydactyly type a" ], "HP:0005700": [ "increase bone density with cystic change", "increased bone density with cystic changes" ], "HP:0005701": [ "multiple enchondromatosis" ], "HP:0005707": [ "bilateral triphalangeal thumb", "bilateral triphalangeal thumbs", "bilateral digitalize thumb", "bilateral digitalized thumb" ], "HP:0005709": [ "2 - 3 toe cutaneous syndactyly", "complete cutaneous syndactyly of second and third toe", "complete cutaneous syndactyly of second and third toes", "cutaneous 2,3 toe syndactyly", "cutaneous syndactyly of second and third toe", "cutaneous syndactyly of second and third toes", "webbed skin of 2nd - 3rd toe", "webbed skin of 2nd - 3rd toes" ], "HP:0005715": [ "flatten knee epiphysis", "flattened knee epiphyses", "flatten end part of knee bone", "flattened end part of knee bone" ], "HP:0005716": [ "lethal skeletal dysplasia", "lethal dwarfism identifiable at birth" ], "HP:0008898": [ "lethal skeletal dysplasia", "lethal dwarfism identifiable at birth" ], "HP:0005720": [ "shortening of all metacarpal", "shortening of all metacarpals" ], "HP:0005722": [ "hyperextensible thumb", "double joint thumb", "double jointed thumb" ], "HP:0005723": [ "shoe - shape sella turcica", "shoe - shaped sella turcica" ], "HP:0005725": [ "nonopposable triphalangeal thumb" ], "HP:0005726": [ "thumb hypoplastic with bulbous tip", "thumbs hypoplastic with bulbous tips", "short thumb with bulbous tip", "short thumbs with bulbous tips" ], "HP:0005731": [ "cortical irregularity" ], "HP:0005733": [ "spinal stenosis with reduced interpedicular distance", "spinal stenosis due to short pedicle", "spinal stenosis due to short pedicles" ], "HP:0004597": [ "spinal stenosis with reduced interpedicular distance", "spinal stenosis due to short pedicle", "spinal stenosis due to short pedicles" ], "HP:0005736": [ "short tibia", "hypoplasia of the tibia", "hypoplastic tibia", "short shinbone", "short skankbone", "short tibiae", "shortening of the shankbone", "shortening of the shinbone", "shortening of the tibia", "obsolete shortening of the tibia" ], "HP:0002993": [ "short tibia", "hypoplasia of the tibia", "hypoplastic tibia", "short shinbone", "short skankbone", "short tibiae", "shortening of the shankbone", "shortening of the shinbone", "shortening of the tibia", "obsolete shortening of the tibia" ], "HP:0006436": [ "short tibia", "hypoplasia of the tibia", "hypoplastic tibia", "short shinbone", "short skankbone", "short tibiae", "shortening of the shankbone", "shortening of the shinbone", "shortening of the tibia", "obsolete shortening of the tibia" ], "HP:0006445": [ "short tibia", "hypoplasia of the tibia", "hypoplastic tibia", "short shinbone", "short skankbone", "short tibiae", "shortening of the shankbone", "shortening of the shinbone", "shortening of the tibia", "obsolete shortening of the tibia" ], "HP:0005739": [ "posterior subluxation of radial head" ], "HP:0005743": [ "avascular necrosis of the capital femoral epiphysis", "coxa plana", "legg - calve - perthes syndrome", "legg - perthes disease", "morbus legg - calve - perthes", "osteochondrosis of the femoral head", "osteonecrosis of the femoral head", "perthes - like femoral head change", "perthes - like femoral head changes" ], "HP:0003280": [ "avascular necrosis of the capital femoral epiphysis", "coxa plana", "legg - calve - perthes syndrome", "legg - perthes disease", "morbus legg - calve - perthes", "osteochondrosis of the femoral head", "osteonecrosis of the femoral head", "perthes - like femoral head change", "perthes - like femoral head changes" ], "HP:0006448": [ "avascular necrosis of the capital femoral epiphysis", "coxa plana", "legg - calve - perthes syndrome", "legg - perthes disease", "morbus legg - calve - perthes", "osteochondrosis of the femoral head", "osteonecrosis of the femoral head", "perthes - like femoral head change", "perthes - like femoral head changes" ], "HP:0010887": [ "avascular necrosis of the capital femoral epiphysis", "coxa plana", "legg - calve - perthes syndrome", "legg - perthes disease", "morbus legg - calve - perthes", "osteochondrosis of the femoral head", "osteonecrosis of the femoral head", "perthes - like femoral head change", "perthes - like femoral head changes" ], "HP:0005744": [ "obsolete generalize osteoporosis with pathologic fracture", "obsolete generalized osteoporosis with pathologic fractures", "generalize osteoporosis", "generalized osteoporosis", "generalise osteoporosis", "generalised osteoporosis", "generalise osteoporosis with pathologic fracture", "generalised osteoporosis with pathologic fractures", "generalize osteoporosis with pathologic fracture", "generalized osteoporosis with pathologic fractures" ], "HP:0005745": [ "congenital foot contracture", "congenital foot contractures" ], "HP:0005746": [ "osteosclerosis of the base of the skull", "osteosclerosis of the skull base" ], "HP:0005747": [ "easily subluxate first metacarpophalangeal joint", "easily subluxated first metacarpophalangeal joints" ], "HP:0005750": [ "contracture of the joint of the low limb", "contractures of the joints of the lower limbs", "contracture , low limb", "contractures , lower limbs" ], "HP:0005752": [ "flatten moderately deformed vertebra", "flattened moderately deformed vertebrae" ], "HP:0005756": [ "neonatal epiphyseal stipple", "neonatal epiphyseal stippling", "epiphyseal stipple in neonate", "epiphyseal stippling in neonates", "speckled calcification in bone end part in neonate", "speckled calcifications in bone end parts in neonates" ], "HP:0005758": [ "basilar impression" ], "HP:0005759": [ "small flat posterior fossa", "small and flat posterior fossa of skull", "small and flat posterior skull bone", "small and flat posterior skull bones" ], "HP:0005764": [ "polyarticular arthritis" ], "HP:0005765": [ "sacral meningocele" ], "HP:0005766": [ "disproportionate shortening of the tibia", "disproportionate shortening of the shankbone", "disproportionate shortening of the shinbone", "marked shortening of tibia" ], "HP:0005767": [ "1 - 2 toe complete cutaneous syndactyly" ], "HP:0005768": [ "2 - 4 toe cutaneous syndactyly", "soft tissue syndactyly of toe 2 , 3 , and 4", "soft tissue syndactyly of toes 2 , 3 , and 4", "webbed 2nd , 3rd and 4th toe", "webbed 2nd , 3rd and 4th toes", "webbed second , third and fourth toe", "webbed second , third and fourth toes" ], "HP:0005769": [ "fifth finger distal phalanx clinodactyly", "curvature of outermost bone of little finger", "curvature of outermost bone of pinkie finger", "curvature of outermost bone of pinky finger" ], "HP:0005772": [ "aplasia / hypoplasia of the tibia", "absent / hypoplastic tibia", "absent / small shankbone", "absent / small shinbone", "absent / underdevelop shankbone", "absent / underdeveloped shankbone", "absent / underdevelop shinbone", "absent / underdeveloped shinbone", "aplastic / hypoplastic tibia" ], "HP:0005773": [ "short forearm" ], "HP:0005775": [ "multiple skeletal anomaly", "multiple skeletal anomalies" ], "HP:0005776": [ "carpal bone malsegmentation" ], "HP:0005780": [ "absent fourth finger distal interphalangeal crease", "no fourth finger distal interphalangeal crease" ], "HP:0005781": [ "contracture of the large joint", "contractures of the large joints" ], "HP:0005787": [ "lumbar platyspondyly" ], "HP:0004588": [ "lumbar platyspondyly" ], "HP:0005788": [ "abnormal cervical myelogram" ], "HP:0005789": [ "generalize osteosclerosis", "generalized osteosclerosis", "diffuse , symmetrical osteosclerosis", "generalise osteosclerosis", "generalised osteosclerosis", "increase bone density in skeletal bone", "increased bone density in skeletal bones", "osteosclerosis , diffuse symmetrical" ], "HP:0005805": [ "generalize osteosclerosis", "generalized osteosclerosis", "diffuse , symmetrical osteosclerosis", "generalise osteosclerosis", "generalised osteosclerosis", "increase bone density in skeletal bone", "increased bone density in skeletal bones", "osteosclerosis , diffuse symmetrical" ], "HP:0005790": [ "short mandibular condyle", "short mandibular condyles", "bilateral hypoplasia of condylar process of mandible", "bilateral hypoplasia of mandibular condylar head", "bilateral hypoplasia of mandibular condylar neck", "decreased height of condylar process of mandible", "decreased length of condylar process of mandible", "short condylar head of mandible", "short condylar neck of mandible", "short condylar process of mandible" ], "HP:0005791": [ "cortical thickening of long bone diaphysis", "cortical thickening of long bone diaphyses" ], "HP:0005792": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0002989": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0003014": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0003064": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0006419": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0006464": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0006468": [ "short humerus", "humeral hypoplasia", "humeral shortening", "hypoplastic humerus", "short humeri", "short long bone of upper arm", "short upper arm", "short upper arms" ], "HP:0005793": [ "shortening of all distal phalanx of the toe", "shortening of all distal phalanges of the toes", "shortening of all outermost bone of the toe", "shortening of all outermost bone of the toes" ], "HP:0005798": [ "posterior radial head dislocation" ], "HP:0005802": [ "coalescence of tarsal bone", "coalescence of tarsal bones" ], "HP:0005807": [ "absent distal phalanx", "absent distal phalanges", "absent outermost digital bone", "absent outermost digital bones" ], "HP:0005815": [ "supernumerary rib", "supernumerary ribs", "extra rib", "extra ribs" ], "HP:0000901": [ "supernumerary rib", "supernumerary ribs", "extra rib", "extra ribs" ], "HP:0005817": [ "postaxial polysyndactyly of foot" ], "HP:0005819": [ "short middle phalanx of finger", "brachymesophalangy", "disproportionately short middle phalanx", "disproportionately short middle phalanges", "hypoplasia of the middle phalanx of the hand", "hypoplasia of the middle phalanges of the hand", "hypoplastic middle phalanx", "hypoplastic middle phalanges", "midphalangeal hypoplasia", "short middle bone of finger", "short middle phalanx", "short middle phalanges", "shorten middle finger bone", "shortened middle finger bones" ], "HP:0001208": [ "short middle phalanx of finger", "brachymesophalangy", "disproportionately short middle phalanx", "disproportionately short middle phalanges", "hypoplasia of the middle phalanx of the hand", "hypoplasia of the middle phalanges of the hand", "hypoplastic middle phalanx", "hypoplastic middle phalanges", "midphalangeal hypoplasia", "short middle bone of finger", "short middle phalanx", "short middle phalanges", "shorten middle finger bone", "shortened middle finger bones" ], "HP:0006068": [ "short middle phalanx of finger", "brachymesophalangy", "disproportionately short middle phalanx", "disproportionately short middle phalanges", "hypoplasia of the middle phalanx of the hand", "hypoplasia of the middle phalanges of the hand", "hypoplastic middle phalanx", "hypoplastic middle phalanges", "midphalangeal hypoplasia", "short middle bone of finger", "short middle phalanx", "short middle phalanges", "shorten middle finger bone", "shortened middle finger bones" ], "HP:0006081": [ "short middle phalanx of finger", "brachymesophalangy", "disproportionately short middle phalanx", "disproportionately short middle phalanges", "hypoplasia of the middle phalanx of the hand", "hypoplasia of the middle phalanges of the hand", "hypoplastic middle phalanx", "hypoplastic middle phalanges", "midphalangeal hypoplasia", "short middle bone of finger", "short middle phalanx", "short middle phalanges", "shorten middle finger bone", "shortened middle finger bones" ], "HP:0010240": [ "short middle phalanx of finger", "brachymesophalangy", "disproportionately short middle phalanx", "disproportionately short middle phalanges", "hypoplasia of the middle phalanx of the hand", "hypoplasia of the middle phalanges of the hand", "hypoplastic middle phalanx", "hypoplastic middle phalanges", "midphalangeal hypoplasia", "short middle bone of finger", "short middle phalanx", "short middle phalanges", "shorten middle finger bone", "shortened middle finger bones" ], "HP:0005820": [ "superior rib anomaly", "superior rib anomalies" ], "HP:0005824": [ "clinodactyly of the 2nd toe", "clinodactyly of second toe", "clinodactyly of second toes", "curvature of 2nd toe" ], "HP:0005825": [ "mixed sclerosis of humeral metaphyses" ], "HP:0005828": [ "transient pulmonary infiltrates" ], "HP:0005829": [ "maldevelopment of radioulnar joint" ], "HP:0005830": [ "flexion contracture of toe", "contracture involve the toe", "contractures involving the toes", "contracture of the toe", "contractures of the toes", "toe contracture", "toe contractures" ], "HP:0001860": [ "flexion contracture of toe", "contracture involve the toe", "contractures involving the toes", "contracture of the toe", "contractures of the toes", "toe contracture", "toe contractures" ], "HP:0008128": [ "flexion contracture of toe", "contracture involve the toe", "contractures involving the toes", "contracture of the toe", "contractures of the toes", "toe contracture", "toe contractures" ], "HP:0008367": [ "flexion contracture of toe", "contracture involve the toe", "contractures involving the toes", "contracture of the toe", "contractures of the toes", "toe contracture", "toe contractures" ], "HP:0200027": [ "flexion contracture of toe", "contracture involve the toe", "contractures involving the toes", "contracture of the toe", "contractures of the toes", "toe contracture", "toe contractures" ], "HP:0005831": [ "type b brachydactyly" ], "HP:0005832": [ "dysharmonic delay bone age", "dysharmonic delayed bone age" ], "HP:0005840": [ "dysharmonic delay bone age", "dysharmonic delayed bone age" ], "HP:0005833": [ "obsolete joint swell onset late infancy", "obsolete joint swelling onset late infancy" ], "HP:0005834": [ "obsolete thumb hypo / aplastic", "obsolete thumbs hypo / aplastic", "aplasia / hypoplasia of the phalanx of the thumb", "aplasia / hypoplasia of the phalanges of the thumb", "absent / small thumb bone", "absent / small thumb bones", "absent / underdevelop thumb bone", "absent / underdeveloped thumb bones" ], "HP:0005841": [ "calcific stippling of infantile cartilaginous skeleton" ], "HP:0005844": [ "round middle phalanx of finger", "rounded middle phalanx of finger", "round middle bone of finger", "rounded middle bone of finger" ], "HP:0005848": [ "obsolete bifid thumb distal phalanx", "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0005849": [ "diffuse cerebral calcification" ], "HP:0005850": [ "congenital talipes calcaneovalgus" ], "HP:0005852": [ "limited elbow extension and supination" ], "HP:0005853": [ "congenital foot contraction deformity", "congenital foot contraction deformities" ], "HP:0005855": [ "multiple prenatal fracture", "multiple prenatal fractures", "congenital bone fracture", "congenital bone fractures", "multiple fracture present at birth", "multiple fractures present at birth", "multiple fracture , present at birth", "multiple fractures , present at birth", "numerous multiple fracture present at birth", "numerous multiple fractures present at birth", "numerous multiple fracture that be present at birth", "numerous multiple fractures that are present at birth" ], "HP:0002811": [ "multiple prenatal fracture", "multiple prenatal fractures", "congenital bone fracture", "congenital bone fractures", "multiple fracture present at birth", "multiple fractures present at birth", "multiple fracture , present at birth", "multiple fractures , present at birth", "numerous multiple fracture present at birth", "numerous multiple fractures present at birth", "numerous multiple fracture that be present at birth", "numerous multiple fractures that are present at birth" ], "HP:0005761": [ "multiple prenatal fracture", "multiple prenatal fractures", "congenital bone fracture", "congenital bone fractures", "multiple fracture present at birth", "multiple fractures present at birth", "multiple fracture , present at birth", "multiple fractures , present at birth", "numerous multiple fracture present at birth", "numerous multiple fractures present at birth", "numerous multiple fracture that be present at birth", "numerous multiple fractures that are present at birth" ], "HP:0005856": [ "ulnar radial head dislocation", "ulnar dislocation of radial head", "ulnar dislocation of radial heads" ], "HP:0005857": [ "cervical spina bifida" ], "HP:0005863": [ "type e brachydactyly" ], "HP:0006115": [ "type e brachydactyly" ], "HP:0005864": [ "pseudoarthrosis", "pseudoarthroses" ], "HP:0005866": [ "opposable triphalangeal thumb" ], "HP:0005867": [ "4 - 5 metacarpal synostosis", "fuse 4th - 5th long bone of hand", "fused 4th - 5th long bones of hand", "fuse 4th - 5th metacarpal", "fused 4th - 5th metacarpals", "fuse fourth and fifth metacarpal", "fused fourth and fifth metacarpals", "ring finger and little finger metacarpal synostosis", "synostosis of the fourth and fifth metacarpal bone", "synostosis of the fourth and fifth metacarpal bones" ], "HP:0005868": [ "metaphyseal enchondromatosis" ], "HP:0005871": [ "metaphyseal chondrodysplasia" ], "HP:0006377": [ "metaphyseal chondrodysplasia" ], "HP:0005872": [ "brachytelomesophalangy", "progressive brachydactyly of middle and distal phalanx", "progressive brachydactyly of middle and distal phalanges", "short middle and distal phalanx of digit ii through v", "short middle and distal phalanges of digits ii through v" ], "HP:0005777": [ "brachytelomesophalangy", "progressive brachydactyly of middle and distal phalanx", "progressive brachydactyly of middle and distal phalanges", "short middle and distal phalanx of digit ii through v", "short middle and distal phalanges of digits ii through v" ], "HP:0006093": [ "brachytelomesophalangy", "progressive brachydactyly of middle and distal phalanx", "progressive brachydactyly of middle and distal phalanges", "short middle and distal phalanx of digit ii through v", "short middle and distal phalanges of digits ii through v" ], "HP:0005873": [ "polysyndactyly of hallux", "polysyndactyly of big toe", "polysyndactyly of great toe" ], "HP:0005875": [ "increase dermatoglyphic whorl", "increased dermatoglyphic whorls" ], "HP:0005876": [ "progressive flexion contracture", "progressive flexion contractures", "joint contracture , progressive", "joint contractures , progressive" ], "HP:0005877": [ "multiple small vertebral fracture", "multiple small vertebral fractures" ], "HP:0005878": [ "enlarge sagittal diameter of the cervical canal", "enlarged sagittal diameter of the cervical canal" ], "HP:0005879": [ "congenital finger flexion contracture", "congenital finger flexion contractures", "congenital finger contracture", "congenital finger contractures" ], "HP:0005880": [ "metacarpophalangeal synostosis", "fuse long bone of hand with innermost finger bone", "fused long bone of hand with innermost finger bone" ], "HP:0100325": [ "metacarpophalangeal synostosis", "fuse long bone of hand with innermost finger bone", "fused long bone of hand with innermost finger bone" ], "HP:0005881": [ "spinal instability" ], "HP:0005882": [ "dermatoglyphic variant", "dermatoglyphic variants" ], "HP:0005885": [ "absent ossification of cervical vertebral body", "absent ossification of cervical vertebral bodies" ], "HP:0005886": [ "aphalangy of the hand", "aphalangy of the hands" ], "HP:0005890": [ "hyperostosis cranialis interna", "enlargement of the inner surface of the skull bone", "enlargement of the inner surface of the skull bones", "excessive growth of inner surface of the skull bone", "excessive growth of inner surface of the skull bones", "hyperostosis of the internal surface of the cranial bone", "hyperostosis of the internal surface of the cranial bones", "hypertrophy of the internal surface of the cranial bone", "hypertrophy of the internal surface of the cranial bones", "increase ossification of the internal surface of the cranial bone", "increased ossification of the internal surface of the cranial bones", "overgrowth of the inner surface of the skull bone", "overgrowth of the inner surface of the skull bones", "overgrowth of the inside of the skull", "thick inner surface of the skull bone", "thick inner surface of the skull bones", "thick internal surface of the cranial bone", "thick internal surface of the cranial bones" ], "HP:0005891": [ "progressive forearm bowing", "progressive forearm curvature" ], "HP:0005892": [ "proximal tibial and fibular fusion", "fusion of innermost shinbone and calf bone" ], "HP:0005894": [ "double first metacarpal", "double first metacarpals", "double 1st long bone of hand", "double 1st long bones of hand" ], "HP:0005895": [ "radial deviation of thumb terminal phalanx" ], "HP:0005897": [ "severe generalize osteoporosis", "severe generalized osteoporosis", "severe generalise osteoporosis", "severe generalised osteoporosis", "severe , generalise osteoporosis", "severe , generalised osteoporosis", "severe , generalize osteoporosis", "severe , generalized osteoporosis" ], "HP:0005838": [ "severe generalize osteoporosis", "severe generalized osteoporosis", "severe generalise osteoporosis", "severe generalised osteoporosis", "severe , generalise osteoporosis", "severe , generalised osteoporosis", "severe , generalize osteoporosis", "severe , generalized osteoporosis" ], "HP:0005899": [ "metaphyseal dysostosis" ], "HP:0005900": [ "fifth metacarpal with ulnar notch", "fifth metacarpal notch on ulnar side", "fifth metacarpal notched on ulnar side" ], "HP:0005905": [ "abnormal cervical curvature", "abnormal neck curve" ], "HP:0005906": [ "delay pneumatization of the mastoid process", "delayed pneumatization of the mastoid process", "mastoid process poorly pneumatized", "mastoid processes poorly pneumatized" ], "HP:0005910": [ "rhomboid or triangular shape 5th finger middle phalanx", "rhomboid or triangular shaped 5th finger middle phalanx", "rhomboid or triangular shape fifth finger middle phalanx", "rhomboid or triangular shaped fifth finger middle phalanx" ], "HP:0005912": [ "biliary atresia", "biliary duct atresia" ], "HP:0005913": [ "abnormality of metacarpal epiphysis", "abnormality of metacarpal epiphyses", "abnormality of end part of long bone of hand" ], "HP:0005914": [ "aplasia / hypoplasia involve the metacarpal bone", "aplasia / hypoplasia involving the metacarpal bones", "absent or hypoplastic metacarpal", "absent or hypoplastic metacarpals", "absent / small long bone of hand", "absent / small long bones of hand", "absent / underdevelop long bone of hand", "absent / underdeveloped long bones of hand", "aplastic / hypoplastic metacarpal", "aplastic / hypoplastic metacarpals", "hypoplastic metacarpal", "hypoplastic metacarpals", "hypoplastic / absent metacarpal bone", "hypoplastic / absent metacarpal bones", "hypoplastic / absent metacarpal", "hypoplastic / absent metacarpals", "metacarpal aplasia / hypoplasia" ], "HP:0006007": [ "aplasia / hypoplasia involve the metacarpal bone", "aplasia / hypoplasia involving the metacarpal bones", "absent or hypoplastic metacarpal", "absent or hypoplastic metacarpals", "absent / small long bone of hand", "absent / small long bones of hand", "absent / underdevelop long bone of hand", "absent / underdeveloped long bones of hand", "aplastic / hypoplastic metacarpal", "aplastic / hypoplastic metacarpals", "hypoplastic metacarpal", "hypoplastic metacarpals", "hypoplastic / absent metacarpal bone", "hypoplastic / absent metacarpal bones", "hypoplastic / absent metacarpal", "hypoplastic / absent metacarpals", "metacarpal aplasia / hypoplasia" ], "HP:0005916": [ "abnormal metacarpal morphology", "abnormal shape of long bone of hand", "abnormal shape of long bones of hand", "abnormal shape of metacarpal bone", "abnormal shape of metacarpal bones" ], "HP:0010556": [ "abnormal metacarpal morphology", "abnormal shape of long bone of hand", "abnormal shape of long bones of hand", "abnormal shape of metacarpal bone", "abnormal shape of metacarpal bones" ], "HP:0005917": [ "supernumerary metacarpal bone", "supernumerary metacarpal bones", "extra long bone of hand", "extra long bones of hand" ], "HP:0005918": [ "abnormal finger phalanx morphology", "abnormal form of phalanx of the hand", "abnormal form of phalanges of the hand", "abnormality of phalanx of finger", "abnormality of the finger bone", "abnormality of the finger bones", "abnormality of the phalanx", "abnormality of the phalanges", "abnormality of the phalanx of the hand", "abnormality of the phalanges of the hand" ], "HP:0005786": [ "abnormal finger phalanx morphology", "abnormal form of phalanx of the hand", "abnormal form of phalanges of the hand", "abnormality of phalanx of finger", "abnormality of the finger bone", "abnormality of the finger bones", "abnormality of the phalanx", "abnormality of the phalanges", "abnormality of the phalanx of the hand", "abnormality of the phalanges of the hand" ], "HP:0006259": [ "abnormal finger phalanx morphology", "abnormal form of phalanx of the hand", "abnormal form of phalanges of the hand", "abnormality of phalanx of finger", "abnormality of the finger bone", "abnormality of the finger bones", "abnormality of the phalanx", "abnormality of the phalanges", "abnormality of the phalanx of the hand", "abnormality of the phalanges of the hand" ], "HP:0005920": [ "abnormal epiphysis morphology of the phalanx of the hand", "abnormal epiphysis morphology of the phalanges of the hand" ], "HP:0009151": [ "abnormal epiphysis morphology of the phalanx of the hand", "abnormal epiphysis morphology of the phalanges of the hand" ], "HP:0005921": [ "obsolete abnormal ossification of hand bone", "obsolete abnormal ossification of hand bones", "abnormal hand bone ossification", "abnormal maturation of the hand bone", "abnormal maturation of the hand bones", "abnormal ossification of hand bone", "abnormal ossification of hand bones", "abnormality of the mineralisation and ossification of bone of the hand", "abnormality of the mineralisation and ossification of bones of the hand" ], "HP:0005922": [ "abnormal hand morphology", "abnormal shape of hand" ], "HP:0003098": [ "abnormal hand morphology", "abnormal shape of hand" ], "HP:0005923": [ "abnormality of the metaphyses of the hand", "abnormalities of the metaphyses of the hand", "abnormality of the wide portion of the hand bone" ], "HP:0005924": [ "abnormality of the epiphysis of the hand", "abnormality of the epiphyses of the hand", "abnormality of the end part of the hand bone", "abnormality of the end part of the hand bones", "abnormality of the epiphysis of the finger", "abnormality of the epiphyses of the fingers", "abnormality of the epiphysis of the phalanx of the hand", "abnormality of the epiphyses of the phalanges of the hand" ], "HP:0005925": [ "abnormality of the diaphysis of the hand", "abnormalities of the diaphyses of the hand", "abnormality of shaft of long bone of the hand", "abnormalities of shaft of long bone of the hand" ], "HP:0005926": [ "abnormality of hand cortical bone", "abnormality of the cortex of hand bone", "abnormality of the cortex of hand bones" ], "HP:0005927": [ "aplasia / hypoplasia involve bone of the hand", "aplasia / hypoplasia involving bones of the hand", "absent / small hand bone", "absent / small hand bones", "absent / underdeveloped hand bone", "absent / underdeveloped hand bones", "hypoplasia / absence of hand bone", "hypoplasia / absence of hand bones" ], "HP:0005928": [ "synostosis involve the fibula", "synostosis involving the fibula", "bone fusion involve the calf bone", "bone fusion involving the calf bones" ], "HP:0005929": [ "synostosis involve the tibia", "synostosis involving the tibia", "bone fusion involve the shinbone", "bone fusion involving the shinbone" ], "HP:0005930": [ "abnormality of epiphysis morphology", "abnormal shape of end part of bone", "abnormality of the epiphysis", "abnormality of the epiphyses", "anomaly of the epiphysis", "anomaly of the epiphyses", "epiphyseal abnormality" ], "HP:0000936": [ "abnormality of epiphysis morphology", "abnormal shape of end part of bone", "abnormality of the epiphysis", "abnormality of the epiphyses", "anomaly of the epiphysis", "anomaly of the epiphyses", "epiphyseal abnormality" ], "HP:0005932": [ "abnormal renal corticomedullary differentiation" ], "HP:0005934": [ "imperfect vocal cord adduction" ], "HP:0005938": [ "abnormal respiratory motile cilium morphology" ], "HP:0005939": [ "multiple bilateral pneumothoraces" ], "HP:0005941": [ "intermittent hyperpnea at rest" ], "HP:0005942": [ "desquamative interstitial pneumonitis", "filling of the alveolus with alveolar macrophage", "filling of the alveoli with alveolar macrophages", "filling of the alveolus with desquamated epithelial cell", "filling of the alveoli with desquamated epithelial cells", "intra - alveolar accumulation of macrophage", "intra - alveolar accumulation of macrophages" ], "HP:0005943": [ "respiratory arrest", "breathe cessation", "breathing cessation" ], "HP:0005944": [ "bilateral lung agenesis", "absent lung", "absent lungs", "bilateral pulmonary agenesis" ], "HP:0006550": [ "bilateral lung agenesis", "absent lung", "absent lungs", "bilateral pulmonary agenesis" ], "HP:0005945": [ "laryngeal obstruction" ], "HP:0005946": [ "ventilator dependence with inability to wean" ], "HP:0005947": [ "decrease sensitivity to hypoxemia", "decreased sensitivity to hypoxemia", "decrease sensitivity to hypoxaemia", "decreased sensitivity to hypoxaemia" ], "HP:0005948": [ "multiple pulmonary cyst", "multiple pulmonary cysts", "cystic lung disease", "multiple lung cyst", "multiple lung cysts" ], "HP:0005949": [ "apneic episode in infancy", "apneic episodes in infancy" ], "HP:0005950": [ "laryngeal web", "laryngeal webs", "partial laryngeal atresia" ], "HP:0005951": [ "progressive inspiratory stridor" ], "HP:0005952": [ "decrease pulmonary function", "decreased pulmonary function", "decrease lung function", "decreased lung function", "impaired lung function", "impaired pulmonary function" ], "HP:0005954": [ "pulmonary capillary hemangiomatosis", "pulmonary hemangioma", "pulmonary hemangiomas" ], "HP:0005956": [ "anteroposteriorly shorten larynx", "anteroposteriorly shortened larynx" ], "HP:0005957": [ "breathe dysregulation", "breathing dysregulation" ], "HP:0005959": [ "impaired gluconeogenesis", "gluconeogenesis impair", "gluconeogenesis impaired" ], "HP:0005961": [ "hypoargininemia", "arginine deficiency", "low blood arginine level", "low blood arginine levels" ], "HP:0005964": [ "intermittent hypothermia", "intermittent abnormally low body temperature" ], "HP:0005970": [ "intermittent hypothermia", "intermittent abnormally low body temperature" ], "HP:0005967": [ "mixed respiratory and metabolic acidosis" ], "HP:0005968": [ "temperature instability", "body temperature instability" ], "HP:0005972": [ "respiratory acidosis" ], "HP:0005973": [ "fructose intolerance", "fructose malabsorption" ], "HP:0005974": [ "episodic ketoacidosis", "ketoacidosis , episodic" ], "HP:0005981": [ "episodic ketoacidosis", "ketoacidosis , episodic" ], "HP:0005983": [ "episodic ketoacidosis", "ketoacidosis , episodic" ], "HP:0005976": [ "hyperkalemic metabolic acidosis" ], "HP:0005977": [ "hypochloremic metabolic alkalosis" ], "HP:0005978": [ "type ii diabetes mellitus", "diabetes mellitus type 2", "diabetes mellitus type ii", "diabetes mellitus , noninsulin - dependent", "niddm diabetes mellitus", "non - insulin dependent diabetes", "noninsulin dependent diabetes mellitus", "noninsulin - dependent diabetes", "noninsulin - dependent diabetes mellitus", "type 2 diabetes", "type ii diabetes" ], "HP:0005965": [ "type ii diabetes mellitus", "diabetes mellitus type 2", "diabetes mellitus type ii", "diabetes mellitus , noninsulin - dependent", "niddm diabetes mellitus", "non - insulin dependent diabetes", "noninsulin dependent diabetes mellitus", "noninsulin - dependent diabetes", "noninsulin - dependent diabetes mellitus", "type 2 diabetes", "type ii diabetes" ], "HP:0100652": [ "type ii diabetes mellitus", "diabetes mellitus type 2", "diabetes mellitus type ii", "diabetes mellitus , noninsulin - dependent", "niddm diabetes mellitus", "non - insulin dependent diabetes", "noninsulin dependent diabetes mellitus", "noninsulin - dependent diabetes", "noninsulin - dependent diabetes mellitus", "type 2 diabetes", "type ii diabetes" ], "HP:0005979": [ "metabolic ketoacidosis", "starvation ketoacidosis" ], "HP:0005971": [ "metabolic ketoacidosis", "starvation ketoacidosis" ], "HP:0005982": [ "reduce phenylalanine hydroxylase level", "reduced phenylalanine hydroxylase level", "phenylalanine hydroxylase deficiency" ], "HP:0005984": [ "elevate maternal serum alpha - fetoprotein", "elevated maternal serum alpha - fetoprotein" ], "HP:0005986": [ "limitation of neck motion", "limited neck mobility", "restrict neck movement", "restricted neck movement" ], "HP:0005987": [ "multinodular goiter", "multinodular goitre" ], "HP:0005988": [ "congenital muscular torticollis", "torticollis , congenital" ], "HP:0005989": [ "redundant neck skin", "excess neck skin", "excess skin over the neck", "excessive nuchal skin", "redundant nuchal skin", "redundant skin fold of neck", "redundant skin folds of neck", "redundant skin over the neck" ], "HP:0005993": [ "redundant neck skin", "excess neck skin", "excess skin over the neck", "excessive nuchal skin", "redundant nuchal skin", "redundant skin fold of neck", "redundant skin folds of neck", "redundant skin over the neck" ], "HP:0005996": [ "redundant neck skin", "excess neck skin", "excess skin over the neck", "excessive nuchal skin", "redundant nuchal skin", "redundant skin fold of neck", "redundant skin folds of neck", "redundant skin over the neck" ], "HP:0005990": [ "thyroid hypoplasia", "hypoplastic thyroid", "small thyroid gland" ], "HP:0005991": [ "limited neck flexion", "limited cervical flexion", "limited neck flexibility" ], "HP:0005994": [ "nodular goiter", "nodular goitre" ], "HP:0005995": [ "decrease adipose tissue around neck", "decreased adipose tissue around neck", "loss of adipose tissue around the neck", "loss of fat around neck" ], "HP:0005997": [ "restrict neck movement due to contracture", "restricted neck movement due to contractures", "neck flexion contracture", "restrict neck mobility due to contracture", "restricted neck mobility due to contractures" ], "HP:0005999": [ "ureteral atresia" ], "HP:0006000": [ "ureteral obstruction" ], "HP:0006006": [ "hypotrophy of the small hand muscle", "hypotrophy of the small hand muscles", "degeneration of small hand muscle", "degeneration of small hand muscles" ], "HP:0006008": [ "unilateral brachydactyly", "short digit on one side", "short digits on one side" ], "HP:0006009": [ "broad phalanx", "broad phalanges", "wide digital bone", "wide digital bones", "wide phalanx", "wide phalanges", "widen phalanx", "widened phalanges" ], "HP:0006030": [ "broad phalanx", "broad phalanges", "wide digital bone", "wide digital bones", "wide phalanx", "wide phalanges", "widen phalanx", "widened phalanges" ], "HP:0006249": [ "broad phalanx", "broad phalanges", "wide digital bone", "wide digital bones", "wide phalanx", "wide phalanges", "widen phalanx", "widened phalanges" ], "HP:0006011": [ "cuboidal metacarpal", "short , cube shape long bone of hand", "short , cube shaped long bone of hand" ], "HP:0006012": [ "widen metacarpal shaft", "widened metacarpal shaft", "broad shaft of long bone of hand" ], "HP:0006014": [ "abnormally shape carpal bone", "abnormally shaped carpal bones", "abnormally shaped wrist bone", "abnormally shaped wrist bones" ], "HP:0006016": [ "delay phalangeal epiphyseal ossification", "delayed phalangeal epiphyseal ossification", "delay bone maturation of end part of digital bone", "delayed bone maturation of end part of digital bone", "delay phalangeal epiphyseal bone maturation", "delayed phalangeal epiphyseal bone maturation" ], "HP:0006019": [ "reduce proximal interphalangeal joint space", "reduced proximal interphalangeal joint space", "decreased space in hinge joint" ], "HP:0006026": [ "round epiphysis", "rounded epiphyses", "rounded end part of bone" ], "HP:0006028": [ "metaphyseal cupping of metacarpal", "metaphyseal cupping of metacarpals", "cupping of wide portion of long bone of hand", "metacarpal / metaphyseal cup", "metacarpal / metaphyseal cupping" ], "HP:0006131": [ "metaphyseal cupping of metacarpal", "metaphyseal cupping of metacarpals", "cupping of wide portion of long bone of hand", "metacarpal / metaphyseal cup", "metacarpal / metaphyseal cupping" ], "HP:0006035": [ "cone - shaped epiphysis of phalanx 2 to 5", "cone - shaped epiphyses of phalanges 2 to 5", "cone - shaped end part of digital bone 2 to 5", "cone - shaped end part of digital bones 2 to 5" ], "HP:0006040": [ "long second metacarpal", "long 2nd long bone of hand" ], "HP:0006042": [ "y - shape metacarpal", "y - shaped metacarpals", "y - shape long bone of hand", "y - shaped long bone of hand" ], "HP:0006045": [ "short point phalanx", "short pointed phalanges", "short point digital bone", "short pointed digital bones" ], "HP:0006048": [ "distal widening of metacarpal", "distal widening of metacarpals", "wide outermost end of long bone" ], "HP:0006051": [ "metacarpal periosteal thicken", "metacarpal periosteal thickening" ], "HP:0006055": [ "ulnar deviate club hand", "ulnar deviated club hands" ], "HP:0006059": [ "cone - shape metacarpal epiphysis", "cone - shaped metacarpal epiphyses", "cone - shaped end part of long bone", "metacarpal cone - shaped epiphysis", "metacarpal cone - shaped epiphyses" ], "HP:0006060": [ "tombstone - shape proximal phalanx", "tombstone - shaped proximal phalanges", "tombstone - shape innermost digital bone", "tombstone - shaped innermost digital bones" ], "HP:0006064": [ "limited interphalangeal movement", "limited movement of hinge joint", "limited movement of hinge joints" ], "HP:0006067": [ "multiple carpal ossification center", "multiple carpal ossification centers", "multiple carpal ossification centre", "multiple carpal ossification centres" ], "HP:0006069": [ "severe carpal ossification delay", "severe delay in maturation of wrist bone" ], "HP:0006070": [ "metacarpophalangeal joint contracture", "metacarpal / phalangeal joint contracture", "metacarpal / phalangeal joint contractures" ], "HP:0005674": [ "metacarpophalangeal joint contracture", "metacarpal / phalangeal joint contracture", "metacarpal / phalangeal joint contractures" ], "HP:0006077": [ "absent proximal finger flexion crease", "absent proximal finger flexion creases" ], "HP:0006086": [ "thin metacarpal cortex", "thin metacarpal cortices" ], "HP:0006088": [ "1 - 5 finger complete cutaneous syndactyly" ], "HP:0006089": [ "palmar hyperhidrosis", "excessive sweating of hand", "excessive sweating of hands" ], "HP:0006092": [ "malaligned carpal bone", "incorrect alignment of wrist bone" ], "HP:0006094": [ "finger joint hypermobility", "increase mobility in finger joint", "increased mobility in finger joint" ], "HP:0006095": [ "wide tuft of distal phalanx", "wide tufts of distal phalanges", "wide tip of outermost digital bone", "wide tips of outermost digital bone" ], "HP:0006097": [ "3 - 4 finger syndactyly", "partial or complete syndactyly 3rd - 4th finger", "partial or complete syndactyly 3rd - 4th fingers", "web 3rd - 4th finger", "webbed 3rd - 4th finger", "webbed 3rd - 4th fingers" ], "HP:0006133": [ "3 - 4 finger syndactyly", "partial or complete syndactyly 3rd - 4th finger", "partial or complete syndactyly 3rd - 4th fingers", "web 3rd - 4th finger", "webbed 3rd - 4th finger", "webbed 3rd - 4th fingers" ], "HP:0006099": [ "metacarpophalangeal joint hyperextensibility" ], "HP:0006101": [ "finger syndactyly", "partial syndactyly" ], "HP:0006057": [ "finger syndactyly", "partial syndactyly" ], "HP:0006106": [ "absent trapezoid bone" ], "HP:0006107": [ "fingerpad telangiectases", "finger pad telangiectases", "small dilate blood vessel in fingerpads", "small dilated blood vessels in fingerpads" ], "HP:0006246": [ "fingerpad telangiectases", "finger pad telangiectases", "small dilate blood vessel in fingerpads", "small dilated blood vessels in fingerpads" ], "HP:0006108": [ "taper metacarpal", "tapered metacarpals", "taper long bone of hand", "tapered long bones of hand" ], "HP:0006109": [ "absent phalangeal crease", "absent interphalangeal crease", "absent interphalangeal creases", "aplasia of the interphalangeal crease", "aplasia of the interphalangeal creases" ], "HP:0006031": [ "absent phalangeal crease", "absent interphalangeal crease", "absent interphalangeal creases", "aplasia of the interphalangeal crease", "aplasia of the interphalangeal creases" ], "HP:0006110": [ "shortening of all middle phalanx of the finger", "shortening of all middle phalanges of the fingers" ], "HP:0006112": [ "expand phalanx with widened medullary cavity", "expanded phalanges with widened medullary cavities" ], "HP:0006114": [ "multiple palmar crease", "multiple palmar creases", "multiple palm line", "multiple palm lines" ], "HP:0006118": [ "shortening of all distal phalanx of the finger", "shortening of all distal phalanges of the fingers", "brachytelephalangy", "shortening of all outermost bone of the finger", "shortening of all outermost bones of the fingers" ], "HP:0005658": [ "shortening of all distal phalanx of the finger", "shortening of all distal phalanges of the fingers", "brachytelephalangy", "shortening of all outermost bone of the finger", "shortening of all outermost bones of the fingers" ], "HP:0006119": [ "proximal tapering of metacarpal", "proximal tapering of metacarpals", "point innermost long bone of hand", "pointed innermost long bone of hand", "point proximal metacarpal", "pointed proximal metacarpals" ], "HP:0006121": [ "obsolete acral ulceration and osteomyelitis lead to autoamputation of the digit ( foot )", "obsolete acral ulceration and osteomyelitis leading to autoamputation of the digits ( feet )", "obsolete acral ulceration and osteomyelitis lead to autoamputation of digit", "obsolete acral ulceration and osteomyelitis leading to autoamputation of digits", "acral ulceration" ], "HP:0005040": [ "obsolete acral ulceration and osteomyelitis lead to autoamputation of the digit ( foot )", "obsolete acral ulceration and osteomyelitis leading to autoamputation of the digits ( feet )", "obsolete acral ulceration and osteomyelitis lead to autoamputation of digit", "obsolete acral ulceration and osteomyelitis leading to autoamputation of digits", "acral ulceration" ], "HP:0006127": [ "long proximal phalanx of finger", "long innermost finger bone" ], "HP:0006129": [ "drumstick terminal phalanx", "drumstick terminal phalanges", "drumstick shape digital bone", "drumstick shaped digital bones" ], "HP:0006134": [ "enlarge metacarpal epiphysis", "enlarged metacarpal epiphyses", "enlarged end part of long bone of hand" ], "HP:0006135": [ "decrease finger mobility", "decreased finger mobility", "decrease finger movement", "decreased finger movement" ], "HP:0006136": [ "bilateral postaxial polydactyly" ], "HP:0006140": [ "premature fusion of phalangeal epiphysis", "premature fusion of phalangeal epiphyses", "premature fusion of end part of digital bone" ], "HP:0006143": [ "abnormal finger flexion crease", "abnormal finger flexion creases" ], "HP:0006144": [ "shortening of all proximal phalanx of the finger", "shortening of all proximal phalanges of the fingers", "shortening of all innermost bone of the finger", "shortening of all innermost bones of the fingers" ], "HP:0006021": [ "shortening of all proximal phalanx of the finger", "shortening of all proximal phalanges of the fingers", "shortening of all innermost bone of the finger", "shortening of all innermost bones of the fingers" ], "HP:0006145": [ "central y - shape metacarpal", "central y - shaped metacarpal", "y - shaped central long bone of hand", "y - shaped central long bones of hand" ], "HP:0006146": [ "broad metacarpal epiphysis", "broad metacarpal epiphyses", "broad end part of long bone of hand" ], "HP:0006147": [ "progressive fusion 2nd - 5th pip joint", "progressive fusion 2nd - 5th pip joints" ], "HP:0006149": [ "increase laxity of finger", "increased laxity of fingers" ], "HP:0006150": [ "swan neck - like deformity of the finger", "swan neck - like deformities of the fingers" ], "HP:0006152": [ "proximal symphalangism of hand", "proximal symphalangism of hands", "fuse innermost hinge joint", "fused innermost hinge joints", "proximal interphalangeal joint synostoses" ], "HP:0006005": [ "proximal symphalangism of hand", "proximal symphalangism of hands", "fuse innermost hinge joint", "fused innermost hinge joints", "proximal interphalangeal joint synostoses" ], "HP:0006153": [ "disharmonious carpal bone", "disharmonious wrist bone" ], "HP:0006155": [ "long phalanx of finger", "long finger bone" ], "HP:0006156": [ "ulnar deviation of thumb", "curve thumb deviate towards palm", "curved thumb deviated towards palm", "ulnar deviation of the 1st finger" ], "HP:0006157": [ "prominent palmar flexion crease", "prominent palmar flexion creases", "prominent life line" ], "HP:0006159": [ "mesoaxial hand polydactyly", "central hand polydactyly", "interdigital finger polydactyly" ], "HP:0001496": [ "mesoaxial hand polydactyly", "central hand polydactyly", "interdigital finger polydactyly" ], "HP:0004056": [ "mesoaxial hand polydactyly", "central hand polydactyly", "interdigital finger polydactyly" ], "HP:0006160": [ "irregular metacarpal", "irregular metacarpals", "irregular long bone of hand", "irregular long bones of hand" ], "HP:0006161": [ "short metacarpal with rounded proximal end", "short metacarpals with rounded proximal ends", "short long bone of hand with rounded innermost end", "short long bone of hand with rounded innermost ends" ], "HP:0006162": [ "soft tissue swelling of interphalangeal joint", "soft tissue swelling of interphalangeal joints", "soft tissue swelling of hinge joint", "soft tissue swelling of hinge joints" ], "HP:0006163": [ "enlarge metacarpophalangeal joint", "enlarged metacarpophalangeal joints" ], "HP:0006165": [ "proportionate shortening of all digit", "proportionate shortening of all digits" ], "HP:0006166": [ "tubular metacarpal bone", "tubular metacarpal bones", "cylindrical shape long bone of hand", "cylindrical shaped long bones of hand" ], "HP:0006167": [ "prominent proximal interphalangeal joint", "prominent proximal interphalangeal joints", "prominent innermost hinge joint", "prominent innermost hinge joints" ], "HP:0006169": [ "decrease mobility 3rd - 5th finger", "decreased mobility 3rd - 5th fingers" ], "HP:0006170": [ "chess - pawn distal phalanx", "chess - pawn distal phalanges", "chess - pawn shape outermost bone", "chess - pawn shaped outermost bone" ], "HP:0006172": [ "flatten , square - off epiphysis of tubular bone", "flattened , squared - off epiphyses of tubular bones", "flatten , square - off end part of tubular bone", "flattened , squared - off end part of tubular bones" ], "HP:0006174": [ "metacarpal diaphyseal endosteal sclerosis" ], "HP:0006175": [ "proximal phalangeal periosteal thicken", "proximal phalangeal periosteal thickening", "thickening of connective tissue of innermost finger bone" ], "HP:0006176": [ "two carpal ossification center present at birth", "two carpal ossification centers present at birth", "two carpal ossification centre present at birth", "two carpal ossification centres present at birth" ], "HP:0006179": [ "pseudoepiphyses of second metacarpal", "extra bone on end of second long bone of hand", "pseudoepiphysis of the 2nd metacarpal", "obsolete pseudoepiphysis of the 2nd metacarpal" ], "HP:0010221": [ "pseudoepiphyses of second metacarpal", "extra bone on end of second long bone of hand", "pseudoepiphysis of the 2nd metacarpal", "obsolete pseudoepiphysis of the 2nd metacarpal" ], "HP:0006180": [ "crowd carpal bone", "crowded carpal bones", "crowd wrist bone", "crowded wrist bones" ], "HP:0006184": [ "decrease palmar crease", "decreased palmar creases", "hypoplastic palmar crease", "hypoplastic palmar creases", "poorly form palmar crease", "poorly formed palmar creases", "shallow palm line", "shallow palmar crease", "shallow palmar creases" ], "HP:0006178": [ "decrease palmar crease", "decreased palmar creases", "hypoplastic palmar crease", "hypoplastic palmar creases", "poorly form palmar crease", "poorly formed palmar creases", "shallow palm line", "shallow palmar crease", "shallow palmar creases" ], "HP:0006185": [ "enlarge proximal interphalangeal joint", "enlarged proximal interphalangeal joints", "enlarge innermost hinge joint", "enlarged innermost hinge joint" ], "HP:0006187": [ "fusion of midphalangeal joint", "fusion of midphalangeal joints" ], "HP:0006189": [ "prominent interdigital fold", "prominent interdigital folds" ], "HP:0006190": [ "radially deviate wrist", "radially deviated wrists" ], "HP:0006191": [ "deep palmar crease", "deep palm line", "deep palmar creases" ], "HP:0006192": [ "tapered phalanx of finger", "taper finger bone", "tapered finger bone" ], "HP:0006193": [ "thimble - shape middle phalanx of hand", "thimble - shaped middle phalanges of hand", "thimble - shape middle bone of hand", "thimble - shaped middle bones of hand" ], "HP:0006200": [ "widen distal phalanx", "widened distal phalanges", "widen outermost bone of limb", "widened outermost bone of limb" ], "HP:0006201": [ "hypermobility of distal interphalangeal joint", "hypermobility of distal interphalangeal joints", "increase mobility of outermost hinge joint", "increased mobility of outermost hinge joint" ], "HP:0006202": [ "osteolysis of scaphoids" ], "HP:0006203": [ "decrease movement range in interphalangeal joint", "decreased movement range in interphalangeal joints", "decreased range of movement range in hinge joint", "decreased range of movement range in hinge joints" ], "HP:0006205": [ "irregular phalanx", "irregular phalanges", "irregular finger bone", "irregular finger bones" ], "HP:0006206": [ "hypersegmentation of proximal phalanx of second finger" ], "HP:0006207": [ "partial fusion of carpal", "partial fusion of carpals" ], "HP:0006208": [ "metaphyseal cupping of proximal phalanx", "metaphyseal cupping of proximal phalanges" ], "HP:0006209": [ "partial - complete absence of 5th phalanx", "partial - complete absence of 5th phalanges", "partial - complete absence of 5th digital bone" ], "HP:0006210": [ "postaxial oligodactyly" ], "HP:0006213": [ "thin proximal phalanx with broad epiphysis of the hand", "thin proximal phalanges with broad epiphyses of the hand", "thin innermost bone with broad end part of the hand bone", "thin proximal phalanx with broad epiphysis", "thin proximal phalanges with broad epiphyses" ], "HP:0006216": [ "single interphalangeal crease of fifth finger", "fifth finger single interphalangeal crease" ], "HP:0006245": [ "single interphalangeal crease of fifth finger", "fifth finger single interphalangeal crease" ], "HP:0006217": [ "limited mobility of proximal interphalangeal joint", "limited mobility of innermost hinge joint" ], "HP:0006224": [ "taper point end of distal finger phalanx", "tapering pointed ends of distal finger phalanges" ], "HP:0006226": [ "osteoarthritis of the first carpometacarpal joint" ], "HP:0006228": [ "valgus hand deformity" ], "HP:0006230": [ "unilateral oligodactyly" ], "HP:0006232": [ "expand metacarpal with widened medullary cavity", "expanded metacarpals with widened medullary cavities" ], "HP:0006233": [ "osteoarthritis of the distal interphalangeal joint" ], "HP:0006234": [ "osteolysis involve tarsal bone", "osteolysis involving tarsal bones", "tarsal bone osteolysis", "tarsal osteolysis" ], "HP:0001858": [ "osteolysis involve tarsal bone", "osteolysis involving tarsal bones", "tarsal bone osteolysis", "tarsal osteolysis" ], "HP:0006236": [ "slender metacarpal", "slender metacarpals", "slender long bone of hand", "slender long bones of hand" ], "HP:0006237": [ "prominent interphalangeal joint", "prominent interphalangeal joints", "prominent hinge joint", "prominent hinge joints" ], "HP:0006239": [ "shortening of all middle phalanx of the toe", "shortening of all middle phalanges of the toes", "brachymesophalangy of foot", "brachymesophalangy of feet", "shortening of all the middle bone of the toe", "shortening of all the middle bones of the toes" ], "HP:0006243": [ "phalangeal dislocation" ], "HP:0006247": [ "enlarge interphalangeal joint", "enlarged interphalangeal joints", "enlarged hinge joint", "enlarged hinge joints" ], "HP:0006248": [ "limited wrist movement", "limited movement of the wrist" ], "HP:0006251": [ "limited wrist extension" ], "HP:0006252": [ "interphalangeal joint erosion", "interphalangeal joint erosions" ], "HP:0006253": [ "swell of proximal interphalangeal joint", "swelling of proximal interphalangeal joints", "swell of innermost hinge joint", "swelling of innermost hinge joints" ], "HP:0006254": [ "elevate alpha - fetoprotein", "elevated alpha - fetoprotein", "alpha fetoprotein abnormal", "increased level of alpha fetoprotein", "increased levels of alpha fetoprotein", "increase serum alpha - fetoprotein", "increased serum alpha - fetoprotein", "serum alpha - fetoprotein increase", "serum alpha - fetoprotein increased" ], "HP:0006256": [ "abnormality of hand joint mobility" ], "HP:0006257": [ "abnormality of carpal bone ossification", "abnormal ankle bone maturation" ], "HP:0006261": [ "abnormal phalangeal joint morphology of the hand", "abnormality of phalangeal joint of the hand", "abnormality of phalangeal joints of the hand", "abnormality of the small joint of the hand", "abnormality of the small joints of the hand" ], "HP:0004266": [ "abnormal phalangeal joint morphology of the hand", "abnormality of phalangeal joint of the hand", "abnormality of phalangeal joints of the hand", "abnormality of the small joint of the hand", "abnormality of the small joints of the hand" ], "HP:0006262": [ "aplasia / hypoplasia of the 5th finger", "absent / small little finger", "absent / small pinkie finger", "absent / small pinky finger", "absent / underdevelop little finger", "absent / underdeveloped little finger", "absent / underdevelop pinkie finger", "absent / underdeveloped pinkie finger", "absent / underdevelop pinky finger", "absent / underdeveloped pinky finger" ], "HP:0006263": [ "abnormality of the epiphysis of the 2nd finger", "abnormality of the epiphyses of the 2nd finger", "abnormality of the end part of the index finger bone" ], "HP:0006264": [ "aplasia / hypoplasia of the 2nd finger", "absent / small index finger", "absent / underdevelop index finger", "absent / underdeveloped index finger" ], "HP:0006265": [ "aplasia / hypoplasia of finger", "aplasia / hypoplasia of fingers", "absent / small finger", "absent / small fingers", "absent / underdevelop finger", "absent / underdeveloped fingers" ], "HP:0006266": [ "small placenta" ], "HP:0006267": [ "large placenta", "placental enlargement" ], "HP:0006268": [ "fluctuate splenomegaly", "fluctuating splenomegaly" ], "HP:0006270": [ "hypoplastic spleen", "underdeveloped spleen" ], "HP:0006273": [ "pancreatic lymphangiectasis" ], "HP:0006274": [ "reduce pancreatic beta cell", "reduced pancreatic beta cells" ], "HP:0006276": [ "hyperechogenic pancreas" ], "HP:0006277": [ "pancreatic hyperplasia" ], "HP:0006278": [ "ectopic pancreatic tissue", "abnormal pancreas location" ], "HP:0006279": [ "beta - cell dysfunction" ], "HP:0006280": [ "chronic pancreatitis", "chronic pancreas inflammation" ], "HP:0006282": [ "generalize hypoplasia of dental enamel", "generalized hypoplasia of dental enamel", "generalised dysplasia of tooth enamel", "generalised hypoplasia of dental enamel", "generalised hypoplasia of tooth enamel", "generalize dysplasia of tooth enamel", "generalized dysplasia of tooth enamel", "generalize hypoplasia of tooth enamel", "generalized hypoplasia of tooth enamel" ], "HP:0006283": [ "multiple unerupted teeth", "failure of eruption of multiple teeth", "multiple non - erupt teeth", "multiple non - erupting teeth" ], "HP:0006285": [ "enamel hypomineralization", "decrease enamel mineralisation", "decreased enamel mineralisation", "fluorosis of tooth enamel", "hypomineralization of enamel", "increase porosity of tooth enamel", "increased porosity of tooth enamel", "mottle tooth enamel", "mottled tooth enamel", "poorly mineralize tooth enamel", "poorly mineralized tooth enamel", "white spot lesion of tooth enamel", "white spot lesions of tooth enamel" ], "HP:0006359": [ "enamel hypomineralization", "decrease enamel mineralisation", "decreased enamel mineralisation", "fluorosis of tooth enamel", "hypomineralization of enamel", "increase porosity of tooth enamel", "increased porosity of tooth enamel", "mottle tooth enamel", "mottled tooth enamel", "poorly mineralize tooth enamel", "poorly mineralized tooth enamel", "white spot lesion of tooth enamel", "white spot lesions of tooth enamel" ], "HP:0006286": [ "yellow - brown discoloration of the teeth", "yellow - brown discolor teeth", "yellow - brown discolored teeth", "yellow - brown discolour teeth", "yellow - brown discoloured teeth", "yellow - brown tooth shade" ], "HP:0006288": [ "advanced eruption of teeth", "advanced dental eruption", "advanced tooth eruption", "early dental eruption", "early eruption of teeth", "eruption , advance", "eruption , advanced", "premature dental eruption", "premature eruption of teeth", "premature tooth eruption" ], "HP:0006317": [ "advanced eruption of teeth", "advanced dental eruption", "advanced tooth eruption", "early dental eruption", "early eruption of teeth", "eruption , advance", "eruption , advanced", "premature dental eruption", "premature eruption of teeth", "premature tooth eruption" ], "HP:0006289": [ "agenesis of central incisor", "absent central incisor", "absent central incisors", "failure of development of central incisor", "miss central incisor", "missing central incisors" ], "HP:0006320": [ "agenesis of central incisor", "absent central incisor", "absent central incisors", "failure of development of central incisor", "miss central incisor", "missing central incisors" ], "HP:0006290": [ "discolored lateral incisor", "discolored lateral incisors", "abnormality of color of front teeth", "abnormality of color of lateral incisor", "abnormality of colour of front teeth", "abnormality of colour of lateral incisor", "abnormality of shade of lateral incisor", "discolor front teeth", "discolored front teeth", "discolour front teeth", "discoloured front teeth", "discoloured lateral incisor", "discoloured lateral incisors" ], "HP:0006291": [ "mark delay in eruption of permanent teeth", "marked delay in eruption of permanent teeth", "severe delay of eruption of adult teeth", "severe delay of eruption of permanent teeth", "very late eruption of adult teeth", "very late eruption of permanent teeth" ], "HP:0006292": [ "abnormality of dental eruption", "abnormal dental eruption", "abnormality of tooth eruption", "anomaly of dental eruption", "anomaly of tooth eruption", "disorder of dental eruption", "disorder of tooth eruption", "disturbance of dental eruption", "disturbance of tooth eruption" ], "HP:0006293": [ "agenesis of maxillary central incisor", "absence of maxillary central incisor", "failure of development of maxillary central incisor", "miss maxillary central incisor", "missing maxillary central incisor", "miss upper central incisor", "missing upper central incisor" ], "HP:0006297": [ "enamel hypoplasia", "defective enamel matrix", "dental enamel hypoplasia", "dysplasia of tooth enamel", "enamel dysplasia", "enamel hypotrophy", "enamel , underdevelop", "enamel , underdeveloped", "hypoplasia of dental enamel", "hypoplasia of tooth enamel", "thin dental enamel", "thin tooth enamel", "underdeveloped teeth enamel" ], "HP:0000671": [ "enamel hypoplasia", "defective enamel matrix", "dental enamel hypoplasia", "dysplasia of tooth enamel", "enamel dysplasia", "enamel hypotrophy", "enamel , underdevelop", "enamel , underdeveloped", "hypoplasia of dental enamel", "hypoplasia of tooth enamel", "thin dental enamel", "thin tooth enamel", "underdeveloped teeth enamel" ], "HP:0001565": [ "enamel hypoplasia", "defective enamel matrix", "dental enamel hypoplasia", "dysplasia of tooth enamel", "enamel dysplasia", "enamel hypotrophy", "enamel , underdevelop", "enamel , underdeveloped", "hypoplasia of dental enamel", "hypoplasia of tooth enamel", "thin dental enamel", "thin tooth enamel", "underdeveloped teeth enamel" ], "HP:0003770": [ "enamel hypoplasia", "defective enamel matrix", "dental enamel hypoplasia", "dysplasia of tooth enamel", "enamel dysplasia", "enamel hypotrophy", "enamel , underdevelop", "enamel , underdeveloped", "hypoplasia of dental enamel", "hypoplasia of tooth enamel", "thin dental enamel", "thin tooth enamel", "underdeveloped teeth enamel" ], "HP:0006298": [ "prolong bleeding after dental extraction", "prolonged bleeding after dental extraction" ], "HP:0006302": [ "dagger - shaped pulp calcification", "dagger - shaped pulp calcifications", "dagger shape pulp denticle", "dagger shaped pulp denticles", "dagger shape pulp stone", "dagger shaped pulp stones" ], "HP:0006304": [ "widely - space incisor", "widely - spaced incisors", "anterior diastema of teeth", "diastema between front teeth", "diastema between incisor", "diastema between incisors", "gap between front teeth", "widely space front teeth", "widely spaced front teeth" ], "HP:0006308": [ "atrophy of alveolar ridge", "atrophy of alveolar ridges", "alveolar bone loss", "atrophy of alveolar margin", "atrophy of alveolar margins", "atrophy of alveolar process of jaw", "atrophy of alveolar processes of jaw", "flattening of alveolar margin", "flattening of alveolar process of jaw", "flattening of alveolar processes of jaw", "flattening of alveolar ridge", "flattening of alveolar ridges", "flattening of gum ridge", "flattening of gum ridges", "resorption of alveolar margin", "resorption of alveolar margins", "resorption of alveolar process of jaw", "resorption of alveolar processes of jaw", "resorption of alveolar ridge", "resorption of alveolar ridges", "shrinking of alveolar ridge", "shrinking of alveolar ridges", "shrinking of gum ridge", "shrinking of gum ridges" ], "HP:0006311": [ "generalize microdontia", "generalized microdontia", "decreased size of all teeth", "decrease tooth mass", "decreased tooth mass", "decrease width of all teeth", "decreased width of all teeth", "generalise microdontia", "generalised microdontia", "hypotrophy of all teeth", "tooth mass insufficiency" ], "HP:0006313": [ "widely space primary teeth", "widely spaced primary teeth", "generalised spacing of primary teeth", "generalize spacing of primary teeth", "generalized spacing of primary teeth", "wide gap between baby teeth", "wide gaps between baby teeth", "wide gap between primary teeth", "wide gaps between primary teeth", "widely space baby teeth", "widely spaced baby teeth", "widely space deciduous teeth", "widely spaced deciduous teeth", "widely space milk teeth", "widely spaced milk teeth" ], "HP:0006315": [ "solitary median maxillary central incisor", "only one upper front tooth", "single central incisor", "single central upper incisor", "single maxillary central incisor", "single median incisor", "single median maxillary central incisor", "single median maxillary incisor", "single midline maxillary incisor", "single midline upper front tooth", "solitary median maxillary central incisor syndrome", "solitary midline maxillary central incisor" ], "HP:0001568": [ "solitary median maxillary central incisor", "only one upper front tooth", "single central incisor", "single central upper incisor", "single maxillary central incisor", "single median incisor", "single median maxillary central incisor", "single median maxillary incisor", "single midline maxillary incisor", "single midline upper front tooth", "solitary median maxillary central incisor syndrome", "solitary midline maxillary central incisor" ], "HP:0001573": [ "solitary median maxillary central incisor", "only one upper front tooth", "single central incisor", "single central upper incisor", "single maxillary central incisor", "single median incisor", "single median maxillary central incisor", "single median maxillary incisor", "single midline maxillary incisor", "single midline upper front tooth", "solitary median maxillary central incisor syndrome", "solitary midline maxillary central incisor" ], "HP:0006356": [ "solitary median maxillary central incisor", "only one upper front tooth", "single central incisor", "single central upper incisor", "single maxillary central incisor", "single median incisor", "single median maxillary central incisor", "single median maxillary incisor", "single midline maxillary incisor", "single midline upper front tooth", "solitary median maxillary central incisor syndrome", "solitary midline maxillary central incisor" ], "HP:0006316": [ "irregularly space teeth", "irregularly spaced teeth", "irregular dental spacing", "variability of dental spacing", "variability of space between teeth", "variability of spacing between teeth" ], "HP:0009081": [ "irregularly space teeth", "irregularly spaced teeth", "irregular dental spacing", "variability of dental spacing", "variability of space between teeth", "variability of spacing between teeth" ], "HP:0006321": [ "multiple non - erupt secondary teeth", "multiple non - erupting secondary teeth", "failure of eruption of multiple adult teeth", "failure of eruption of multiple permanent teeth", "multiple non - erupt adult teeth", "multiple non - erupting adult teeth", "multiple non - erupt permanent teeth", "multiple non - erupting permanent teeth", "multiple unerupted adult teeth", "multiple unerupted permanent teeth" ], "HP:0006323": [ "premature loss of primary teeth", "early loss of baby teeth", "early loss of deciduous teeth", "early loss of primary teeth", "premature deciduous tooth loss", "premature exfoliation of deciduous teeth", "premature exfoliation of primary teeth", "premature loss of baby teeth", "premature loss of deciduous teeth" ], "HP:0006319": [ "premature loss of primary teeth", "early loss of baby teeth", "early loss of deciduous teeth", "early loss of primary teeth", "premature deciduous tooth loss", "premature exfoliation of deciduous teeth", "premature exfoliation of primary teeth", "premature loss of baby teeth", "premature loss of deciduous teeth" ], "HP:0006351": [ "premature loss of primary teeth", "early loss of baby teeth", "early loss of deciduous teeth", "early loss of primary teeth", "premature deciduous tooth loss", "premature exfoliation of deciduous teeth", "premature exfoliation of primary teeth", "premature loss of baby teeth", "premature loss of deciduous teeth" ], "HP:0006326": [ "bury teeth encase in mucopolysaccharide", "buried teeth encased in mucopolysaccharide", "failure of dental eruption due to mucopolysaccharidoses", "failure of tooth eruption due to mucopolysaccharidoses", "impact teeth due to mucopolysaccharidoses", "impacted teeth due to mucopolysaccharidoses", "unerupted dentition due to mucopolysaccharidoses", "unerupted teeth due to mucopolysaccharidoses" ], "HP:0006329": [ "alveolar process hypoplasia", "decreased size of alveolar process of jaw", "decreased size of alveolar ridge", "deficiency of alveolar process of jaw", "deficiency of alveolar ridge", "hypoplasia of alveolar ridge", "hypoplastic alveolar bone", "hypotrophic alveolar process of jaw", "hypotrophic alveolar ridge", "small alveolar process of jaw", "small alveolar ridge", "underdevelopment of alveolar process of jaw", "underdevelopment of alveolar ridge" ], "HP:0006312": [ "alveolar process hypoplasia", "decreased size of alveolar process of jaw", "decreased size of alveolar ridge", "deficiency of alveolar process of jaw", "deficiency of alveolar ridge", "hypoplasia of alveolar ridge", "hypoplastic alveolar bone", "hypotrophic alveolar process of jaw", "hypotrophic alveolar ridge", "small alveolar process of jaw", "small alveolar ridge", "underdevelopment of alveolar process of jaw", "underdevelopment of alveolar ridge" ], "HP:0006330": [ "rotate maxillary central incisor", "rotated maxillary central incisors", "rotate upper central incisor", "rotated upper central incisors", "rotate upper front teeth", "rotated upper front teeth", "turn upper front teeth", "turned upper front teeth", "twist upper front teeth", "twisted upper front teeth" ], "HP:0006332": [ "supernumerary maxillary incisor", "extra upper front tooth" ], "HP:0006333": [ "crowd maxillary incisor", "crowded maxillary incisors", "crowd upper front teeth", "crowded upper front teeth", "crowd upper incisor", "crowded upper incisors", "overlap maxillary incisor", "overlapped maxillary incisors", "overlap upper front teeth", "overlapped upper front teeth" ], "HP:0006334": [ "hypoplasia of the primary teeth", "decreased size of baby teeth", "decreased size of deciduous teeth", "decreased size of milk teeth", "decreased size of primary teeth", "hypoplastic deciduous teeth", "small baby teeth", "small milk teeth", "small primary teeth", "underdevelopment of baby teeth", "underdevelopment of milk teeth", "underdevelopment of primary teeth" ], "HP:0006318": [ "hypoplasia of the primary teeth", "decreased size of baby teeth", "decreased size of deciduous teeth", "decreased size of milk teeth", "decreased size of primary teeth", "hypoplastic deciduous teeth", "small baby teeth", "small milk teeth", "small primary teeth", "underdevelopment of baby teeth", "underdevelopment of milk teeth", "underdevelopment of primary teeth" ], "HP:0006335": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0003772": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0006299": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0006305": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0006341": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0006354": [ "persistence of primary teeth", "deciduous teeth retention", "delayed loss of baby teeth", "delayed loss of deciduous teeth", "delayed loss of primary teeth", "failure to exfoliate deciduous teeth", "failure to exfoliate primary teeth", "failure to lose baby teeth", "persistence of deciduous teeth", "persistent deciduous dentition", "persistent primary dentition", "persistent primary teeth", "retain baby teeth", "retained baby teeth", "retain deciduous teeth", "retained deciduous teeth", "retain primary teeth", "retained primary teeth" ], "HP:0006336": [ "short dental root", "decreased length of dental root", "decreased length of dental roots", "decreased length of tooth root", "decreased length of tooth roots", "dental root hypoplasia", "dental root hypotrophy", "rhizomicry", "root dwarfism", "short dental roots", "short tooth root", "short tooth roots", "underdeveloped dental root", "underdeveloped dental roots", "underdeveloped tooth root", "underdeveloped tooth roots" ], "HP:0006337": [ "premature eruption of permanent teeth", "early eruption of adult teeth", "early eruption of permanent teeth", "precocious eruption of secondary dentition", "precocious eruption of secondary teeth", "premature eruption of adult teeth" ], "HP:0006338": [ "malformation of mandibular premolar", "malformation of low premolar", "malformation of lower premolar", "malformation of mandibular bicuspid" ], "HP:0006339": [ "conical mandibular incisor", "cone shape low front tooth", "cone shaped lower front tooth", "conoid mandibular incisor", "low front shark tooth", "lower front shark tooth", "peg shape low front tooth", "peg shaped lower front tooth", "peg shape mandibular incisor", "peg shaped mandibular incisor", "point mandibular incisor", "pointed mandibular incisor", "pointed mandibular incisors" ], "HP:0006342": [ "peg - shaped maxillary lateral incisor", "peg - shaped maxillary lateral incisors", "cone shape upper lateral incisor", "cone shaped upper lateral incisors", "conical maxillary lateral incisor", "conical maxillary lateral incisors", "conoid upper lateral incisor", "conoid upper lateral incisors", "peg lateral", "peg laterals", "peg shape upper lateral incisor", "peg shaped upper lateral incisors", "peg - shape tooth", "peg - shaped tooth", "point upper lateral incisor", "pointed upper lateral incisors" ], "HP:0006344": [ "abnormality of primary molar morphology", "abnormality of deciduous molar morphology", "abnormality of shape of baby molar", "abnormality of shape of primary molar" ], "HP:0006346": [ "screwdriver - shaped incisor", "screwdriver - shaped incisors", "screwdriver shape front teeth", "screwdriver shaped front teeth" ], "HP:0006347": [ "microdontia of primary teeth", "decreased size of primary tooth", "decrease width of baby teeth", "decreased width of baby teeth", "decrease width of deciduous teeth", "decreased width of deciduous teeth", "decrease width of milk teeth", "decreased width of milk teeth", "decrease width of primary tooth", "decreased width of primary tooth", "microdontia of deciduous teeth", "small deciduous teeth" ], "HP:0006349": [ "agenesis of permanent teeth", "absence of permanent teeth", "absent permanent teeth", "agenesis of permanent dentition", "agenesis of secondary dentition", "failure of development of permanent teeth", "failure of development of secondary teeth", "miss teeth", "missing teeth" ], "HP:0000681": [ "agenesis of permanent teeth", "absence of permanent teeth", "absent permanent teeth", "agenesis of permanent dentition", "agenesis of secondary dentition", "failure of development of permanent teeth", "failure of development of secondary teeth", "miss teeth", "missing teeth" ], "HP:0006287": [ "agenesis of permanent teeth", "absence of permanent teeth", "absent permanent teeth", "agenesis of permanent dentition", "agenesis of secondary dentition", "failure of development of permanent teeth", "failure of development of secondary teeth", "miss teeth", "missing teeth" ], "HP:0006350": [ "pulp obliteration", "crescent / chevron - shaped pulp chamber", "crescent / chevron - shaped pulp chambers", "narrowing of pulp chamber of tooth", "obliteration of the pulp chamber", "pulp canal obliteration", "reduce size of pulp chamber of tooth", "reduced size of pulp chamber of tooth", "small pulp chamber of tooth" ], "HP:0006352": [ "failure of eruption of permanent teeth", "failure of eruption of adult teeth", "unerupted adult dentition", "unerupted adult teeth", "unerupted permanent dentition", "unerupted permanent teeth" ], "HP:0006309": [ "failure of eruption of permanent teeth", "failure of eruption of adult teeth", "unerupted adult dentition", "unerupted adult teeth", "unerupted permanent dentition", "unerupted permanent teeth" ], "HP:0006353": [ "hypoplasia of the tooth germ", "decreased size of tooth bud", "decreased size of tooth germ", "hypoplastic tooth bud", "hypoplastic tooth buds", "hypotrophic tooth germ", "small tooth bud", "small tooth germ", "underdevelopment of tooth bud", "underdevelopment of tooth germ" ], "HP:0006355": [ "agenesis of mandibular central incisor", "absence of low central incisor", "absence of lower central incisor", "absence of mandibular central incisor", "failure of development of mandibular central incisor", "miss low central incisor", "missing lower central incisor", "miss mandibular central incisor", "missing mandibular central incisor" ], "HP:0006357": [ "premature loss of permanent teeth", "early loss of adult teeth", "early loss of permanent teeth", "early loss of secondary dentition", "premature loss of adult teeth", "premature loss of secondary teeth" ], "HP:0006358": [ "shovel - shape maxillary central incisor", "shovel - shaped maxillary central incisors", "shovel tooth", "shovel - shape upper front teeth", "shovel - shaped upper front teeth" ], "HP:0006361": [ "irregular femoral epiphysis", "irregular thighbone end part" ], "HP:0006362": [ "varus deformity of humeral neck" ], "HP:0006366": [ "adductor longus contracture", "adductor longus contractures" ], "HP:0006367": [ "crumple long bone", "crumpled long bones" ], "HP:0006368": [ "forearm reduction defect", "forearm reduction defects" ], "HP:0006369": [ "irregular patella", "irregular patellae", "irregular patellar contour", "irregular patellar margin", "irregular patellar margins" ], "HP:0006458": [ "irregular patella", "irregular patellae", "irregular patellar contour", "irregular patellar margin", "irregular patellar margins" ], "HP:0006370": [ "distal ulnar epiphyseal stipple", "distal ulnar epiphyseal stippling", "distal ulnar epiphyseal calcification", "distal ulnar epiphyseal calcifications" ], "HP:0006371": [ "broad long bone diaphysis", "broad long bone diaphyses", "broad shaft of long bone", "wide shaft of long bone" ], "HP:0006375": [ "dumbbell - shape femur", "dumbbell - shaped femur", "dumbbell - shape thighbone", "dumbbell - shaped thighbone" ], "HP:0006376": [ "limited elbow flexion" ], "HP:0006378": [ "osteolysis of patella", "osteolysis of patellae" ], "HP:0006379": [ "proximal tibial hypoplasia", "proximal tibial hypopolasia" ], "HP:0006380": [ "knee flexion contracture", "contracture of knee", "contractures of knees", "contracture of the knee", "contractures of the knees", "flexion contracture of knee", "flexion contracture of knees", "flexion contracture at both knee", "flexion contractures at both knees", "flexion contractures of knees", "flexion deformity of the knee", "inability to straighten knee", "knee contracture", "knee contractures", "knee flexion contractures", "knee flexion deformity" ], "HP:0002978": [ "knee flexion contracture", "contracture of knee", "contractures of knees", "contracture of the knee", "contractures of the knees", "flexion contracture of knee", "flexion contracture of knees", "flexion contracture at both knee", "flexion contractures at both knees", "flexion contractures of knees", "flexion deformity of the knee", "inability to straighten knee", "knee contracture", "knee contractures", "knee flexion contractures", "knee flexion deformity" ], "HP:0006381": [ "obsolete rudimentary to absent fibula", "obsolete rudimentary to absent fibulae", "rudimentary fibula", "rudimentary to absent fibula", "rudimentary to absent fibulae", "small to absent calf bone", "small to absent fibula" ], "HP:0006383": [ "progressive bowing of long bone", "progressive bowing of long bones" ], "HP:0006384": [ "club - shaped distal femur", "club - shaped distal femora", "club - shape outermost end of thighbone", "club - shaped outermost end of thighbone" ], "HP:0006447": [ "club - shaped distal femur", "club - shaped distal femora", "club - shape outermost end of thighbone", "club - shaped outermost end of thighbone" ], "HP:0006385": [ "short low limb", "short lower limbs", "short leg", "short legs" ], "HP:0003054": [ "short low limb", "short lower limbs", "short leg", "short legs" ], "HP:0006386": [ "hypoplastic distal radial epiphysis", "hypoplastic distal radial epiphyses" ], "HP:0006387": [ "wide distal femoral metaphysis", "broad outermost wide portion of thighbone", "wide distal metaphysis of femur" ], "HP:0006389": [ "limited knee flexion" ], "HP:0006390": [ "anterior tibial bowing", "anterior bowing of tibia" ], "HP:0006391": [ "overtubulated long bone", "overtubulated long bones" ], "HP:0006392": [ "increase density of long bone", "increased density of long bones" ], "HP:0006394": [ "limited pronation / supination of forearm" ], "HP:0006397": [ "lateral displacement of patella", "lateral displacement of patellae" ], "HP:0006398": [ "flat distal femoral epiphysis", "flat end part of outermost thighbone", "flatten distal femoral epiphysis", "flattened distal femoral epiphyses" ], "HP:0006400": [ "absent knee epiphysis", "absent knee epiphyses", "absent knee end part" ], "HP:0006402": [ "distal shortening of limb", "distal shortening of limbs", "short out part of limb", "short outer part of limbs" ], "HP:0006406": [ "club - shape proximal femur", "club - shaped proximal femur", "club - shape innermost end of thighbone", "club - shaped innermost end of thighbone" ], "HP:0006407": [ "irregular distal femoral epiphysis", "irregular outermost thighbone end part" ], "HP:0006408": [ "distal tapering femur", "tapering of outermost end of thighbone" ], "HP:0006409": [ "progressive leg bowing" ], "HP:0006413": [ "broad tibial metaphyses", "broad wide portion of shankbone", "broad wide portion of shinbone" ], "HP:0006414": [ "distal tibial bowing", "bowing of the distal tibia", "tibial bowing at ankle" ], "HP:0006415": [ "cortically dense long tubular bone", "cortically dense long tubular bones" ], "HP:0006417": [ "broad femoral metaphyses", "broad wide portion of thigh bone" ], "HP:0006420": [ "asymmetric radial dysplasia" ], "HP:0006423": [ "peg - like central prominence of distal tibial metaphyses" ], "HP:0006424": [ "elongate radius", "elongated radius" ], "HP:0006426": [ "rudimentary to absent tibia", "rudimentary to absent tibiae" ], "HP:0006429": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0003369": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0003372": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0008781": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0008782": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0008836": [ "broad femoral neck", "broadening of femoral neck", "wide femoral neck", "wide neck of thigh bone", "widen femoral neck", "widened femoral necks" ], "HP:0006431": [ "proximal femoral metaphyseal abnormality", "abnormal wide portion of innermost thighbone" ], "HP:0006432": [ "trapezoidal distal femoral condyle", "trapezoidal distal femoral condyles" ], "HP:0006433": [ "radial dysplasia", "dysplastic radius", "dysplastic radii", "radial longitudinal deficiency" ], "HP:0006434": [ "hypoplasia of proximal radius", "proximal radial shortening" ], "HP:0006365": [ "hypoplasia of proximal radius", "proximal radial shortening" ], "HP:0006437": [ "disproportionate prominence of the femoral medial condyle" ], "HP:0006438": [ "enlargement of the distal femoral epiphysis", "enlargement of the outermost thighbone end part", "large distal femoral epiphysis", "large distal femoral epiphyses" ], "HP:0006439": [ "radioulnar dislocation", "dislocate radioulnar joint", "dislocated radioulnar joints" ], "HP:0003972": [ "radioulnar dislocation", "dislocate radioulnar joint", "dislocated radioulnar joints" ], "HP:0006440": [ "increase density of long bone diaphysis", "increased density of long bone diaphyses", "increase density of shaft of long bone", "increased density of shaft of long bone" ], "HP:0006441": [ "lateral humeral condyle aplasia" ], "HP:0006442": [ "hypoplasia of proximal fibula", "small innermost upper end of calf bone", "underdeveloped innermost upper end of calf bone" ], "HP:0006443": [ "patellar aplasia", "absent kneecap", "absent patella", "absent patellae", "absent patellas", "aplastic patella", "aplastic patellae" ], "HP:0003046": [ "patellar aplasia", "absent kneecap", "absent patella", "absent patellae", "absent patellas", "aplastic patella", "aplastic patellae" ], "HP:0006475": [ "patellar aplasia", "absent kneecap", "absent patella", "absent patellae", "absent patellas", "aplastic patella", "aplastic patellae" ], "HP:0006446": [ "dysplastic patella" ], "HP:0006449": [ "distal radial epiphyseal osteolysis" ], "HP:0006450": [ "multicentric ossification of proximal femoral epiphysis", "multicentric ossification of proximal femoral epiphyses" ], "HP:0006453": [ "lateral displacement of the femoral head", "laterally displaced femoral head", "laterally displaced femoral heads" ], "HP:0006454": [ "delay patellar ossification", "delayed patellar ossification", "delay bone maturation of the knee cap", "delayed bone maturation of the knee cap", "delay patella ossification", "delayed patellae ossification" ], "HP:0006456": [ "irregular proximal tibial epiphysis", "irregular proximal tibial epiphyses", "irregular innermost shankbone end part", "irregular innermost shinbone end part" ], "HP:0006459": [ "dorsal subluxation of ulna" ], "HP:0006460": [ "increase laxity of ankle", "increased laxity of ankles" ], "HP:0006461": [ "proximal femoral epiphysiolysis", "slip capilal femoral epiphysis", "slipped capilal femoral epiphysis", "slipped capital femoral epiphysis", "slipped capital femoral epiphyses", "slipped end part of innermost thighbone" ], "HP:0003000": [ "proximal femoral epiphysiolysis", "slip capilal femoral epiphysis", "slipped capilal femoral epiphysis", "slipped capital femoral epiphysis", "slipped capital femoral epiphyses", "slipped end part of innermost thighbone" ], "HP:0006462": [ "generalize bone demineralization", "generalized bone demineralization", "generalise bone demineralization", "generalised bone demineralization" ], "HP:0006463": [ "rickets of the low limb", "rickets of the lower limbs" ], "HP:0006465": [ "periosteal thickening of long tubular bone", "periosteal thickening of long tubular bones" ], "HP:0006466": [ "ankle flexion contracture", "ankle contracture", "ankle contractures", "contracture of the ankle", "contractures of the ankles" ], "HP:0004985": [ "ankle flexion contracture", "ankle contracture", "ankle contractures", "contracture of the ankle", "contractures of the ankles" ], "HP:0006403": [ "ankle flexion contracture", "ankle contracture", "ankle contractures", "contracture of the ankle", "contractures of the ankles" ], "HP:0006467": [ "limited shoulder movement" ], "HP:0006470": [ "thin long bone diaphysis", "thin long bone diaphyses", "thin diaphysis of long bone", "thin diaphyses of long bones", "thin shaft of long bone" ], "HP:0006471": [ "fix elbow flexion", "fixed elbow flexion" ], "HP:0006473": [ "anterior bowing of long bone", "anterior bowing of long bones" ], "HP:0006476": [ "abnormality of the pancreatic islet cell", "abnormality of the pancreatic islet cells" ], "HP:0100567": [ "abnormality of the pancreatic islet cell", "abnormality of the pancreatic islet cells" ], "HP:0006477": [ "abnormality of the alveolar ridge", "abnormality of the alveolar ridges", "abnormality of alveolar margin", "abnormality of alveolar process of jaw", "abnormality of alveolar processes of jaw", "abnormality of dentoalveolar ridge", "abnormality of dentoalveolar ridges", "abnormality of gum ridge", "defect in alveolar ridge" ], "HP:0006479": [ "abnormal dental pulp morphology", "abnormality of the dental pulp", "abnormality of tooth pulp", "endodontic abnormality" ], "HP:0006480": [ "premature loss of teeth", "early tooth loss", "loss of teeth", "premature exfoliation of teeth", "premature teeth loss", "premature tooth loss" ], "HP:0000701": [ "premature loss of teeth", "early tooth loss", "loss of teeth", "premature exfoliation of teeth", "premature teeth loss", "premature tooth loss" ], "HP:0001564": [ "premature loss of teeth", "early tooth loss", "loss of teeth", "premature exfoliation of teeth", "premature teeth loss", "premature tooth loss" ], "HP:0006343": [ "premature loss of teeth", "early tooth loss", "loss of teeth", "premature exfoliation of teeth", "premature teeth loss", "premature tooth loss" ], "HP:0006481": [ "abnormality of primary teeth", "abnormality of baby teeth", "abnormality of deciduous teeth", "abnormality of milk teeth" ], "HP:0006482": [ "abnormality of dental morphology", "abnormality of dental shape", "abnormality of shape of tooth", "abnormally shape teeth", "abnormally shaped teeth", "deformity of teeth", "dental deformity", "dental malformation", "dental malformations", "malformation of teeth", "malformed teeth", "misshapen teeth", "misshapened teeth" ], "HP:0000697": [ "abnormality of dental morphology", "abnormality of dental shape", "abnormality of shape of tooth", "abnormally shape teeth", "abnormally shaped teeth", "deformity of teeth", "dental deformity", "dental malformation", "dental malformations", "malformation of teeth", "malformed teeth", "misshapen teeth", "misshapened teeth" ], "HP:0006483": [ "abnormal number of teeth", "abnormal complement of teeth", "abnormal tooth count" ], "HP:0006485": [ "agenesis of incisor", "absence of front tooth", "absence of incisor", "absence of incisors", "failure of development of incisor", "miss front tooth", "missing front tooth", "miss incisor", "missing incisors" ], "HP:0006486": [ "abnormal dental root morphology", "abnormality of the dental root", "abnormality of tooth root", "dental root anomaly" ], "HP:0006487": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0002976": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0005087": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0005908": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0006404": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0006451": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0006452": [ "bowing of the long bone", "bowing of the long bones", "bow long bone", "bowed long bones", "bowing of long bone", "bowing of long bones", "camptomelia", "diaphyseal bowing", "diaphyseal bowing of long bone", "diaphyseal bowing of long bones" ], "HP:0006488": [ "bowing of the arm", "bending of the arm" ], "HP:0006489": [ "abnormality of the femoral metaphysis", "abnormality of the wide portion of the femoral bone" ], "HP:0006490": [ "abnormality of low - limb metaphyses", "abnormality of lower - limb metaphyses", "abnormality of the wide portion of the low - limb bone", "abnormality of the wide portion of the lower - limb bone" ], "HP:0006491": [ "abnormality of the tibial metaphysis", "abnormality of the wide portion of shankbone", "abnormality of the wide portion of shinbone" ], "HP:0006492": [ "aplasia / hypoplasia of the fibula", "absent / small calf bone", "absent / underdevelop calf bone", "absent / underdeveloped calf bone", "fibular aplasia / hypoplasia", "hypoplastic / aplastic fibula", "hypoplastic / aplastic fibulae" ], "HP:0005672": [ "aplasia / hypoplasia of the fibula", "absent / small calf bone", "absent / underdevelop calf bone", "absent / underdeveloped calf bone", "fibular aplasia / hypoplasia", "hypoplastic / aplastic fibula", "hypoplastic / aplastic fibulae" ], "HP:0006421": [ "aplasia / hypoplasia of the fibula", "absent / small calf bone", "absent / underdevelop calf bone", "absent / underdeveloped calf bone", "fibular aplasia / hypoplasia", "hypoplastic / aplastic fibula", "hypoplastic / aplastic fibulae" ], "HP:0006493": [ "aplasia / hypoplasia involve bone of the low limb", "aplasia / hypoplasia involving bones of the lower limbs", "absent / small low limb bone", "absent / small lower limb bones", "absent / underdevelop low limb bone", "absent / underdeveloped lower limb bones" ], "HP:0006494": [ "aplasia / hypoplasia involve bone of the foot", "aplasia / hypoplasia involving bones of the feet", "absent / small foot bone", "absent / small foot bones", "absent / underdeveloped foot bone", "absent / underdeveloped foot bones" ], "HP:0006495": [ "aplasia / hypoplasia of the ulna", "absence / underdevelopment of inner forearm bone", "absent - hypoplastic ulna", "absent - hypoplastic ulnae", "absent / small ulna", "hypoplasia or unilateral / bilateral absence of ulna", "ulnar hypoplasia / aplasia" ], "HP:0005097": [ "aplasia / hypoplasia of the ulna", "absence / underdevelopment of inner forearm bone", "absent - hypoplastic ulna", "absent - hypoplastic ulnae", "absent / small ulna", "hypoplasia or unilateral / bilateral absence of ulna", "ulnar hypoplasia / aplasia" ], "HP:0006372": [ "aplasia / hypoplasia of the ulna", "absence / underdevelopment of inner forearm bone", "absent - hypoplastic ulna", "absent - hypoplastic ulnae", "absent / small ulna", "hypoplasia or unilateral / bilateral absence of ulna", "ulnar hypoplasia / aplasia" ], "HP:0006410": [ "aplasia / hypoplasia of the ulna", "absence / underdevelopment of inner forearm bone", "absent - hypoplastic ulna", "absent - hypoplastic ulnae", "absent / small ulna", "hypoplasia or unilateral / bilateral absence of ulna", "ulnar hypoplasia / aplasia" ], "HP:0006496": [ "aplasia / hypoplasia involve bone of the upper limb", "aplasia / hypoplasia involving bones of the upper limbs", "absent / small bone of the upper limb", "absent / small bones of the upper limbs", "absent / underdeveloped bone of the upper limb", "absent / underdeveloped bones of the upper limbs" ], "HP:0006498": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0005006": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0005027": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0005702": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0005729": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0006374": [ "aplasia / hypoplasia of the patella", "absent or hypoplastic patella", "absent or hypoplastic patellae", "absent / hypoplastic patella", "absent / small kneecap", "absent / underdevelop kneecap", "absent / underdeveloped kneecap", "aplastic or hypoplastic patella", "aplastic or hypoplastic patellae", "hypoplastic or absent patella", "patellar aplasia / hypoplasia", "small to absent patella", "small to absent patellae" ], "HP:0006499": [ "abnormality of femoral epiphysis", "abnormality of thighbone end part" ], "HP:0006412": [ "abnormality of femoral epiphysis", "abnormality of thighbone end part" ], "HP:0008811": [ "abnormality of femoral epiphysis", "abnormality of thighbone end part" ], "HP:0006500": [ "abnormality of low limb epiphysis morphology", "abnormality of lower limb epiphysis morphology", "abnormal shape of end part of low limb end bone", "abnormal shape of end part of lower limb end bone", "abnormality involve the epiphysis of the low limb", "abnormality involving the epiphyses of the lower limbs" ], "HP:0006501": [ "aplasia / hypoplasia of the radius", "absence or underdevelopment of the radius bone of the arm", "absent / small radius", "absent / underdevelop radius", "absent / underdeveloped radius", "radial aplasia / hypoplasia" ], "HP:0005718": [ "aplasia / hypoplasia of the radius", "absence or underdevelopment of the radius bone of the arm", "absent / small radius", "absent / underdevelop radius", "absent / underdeveloped radius", "radial aplasia / hypoplasia" ], "HP:0006502": [ "aplasia / hypoplasia involve the carpal bone", "aplasia / hypoplasia involving the carpal bones", "absent / small wrist bone", "absent / small wrist bones", "absent / underdeveloped wrist bone", "absent / underdeveloped wrist bones" ], "HP:0006503": [ "aplasia / hypoplasia involve forearm bone", "aplasia / hypoplasia involving forearm bones", "absent / small forearm bone", "absent / small forearm bones", "absent / underdevelop forearm bone", "absent / underdeveloped forearm bones" ], "HP:0006505": [ "abnormality of limb epiphysis morphology", "abnormal shape of end part of limb bone", "abnormal shape of end part of limb bones", "abnormality involve the epiphysis of the limb", "abnormality involving the epiphyses of the limbs" ], "HP:0006507": [ "aplasia / hypoplasia of the humerus", "absent / small long bone in upper arm", "absent / underdevelop long bone in upper arm", "absent / underdeveloped long bone in upper arm" ], "HP:0006508": [ "abnormality of tibial epiphysis", "abnormality of tibial epiphyses", "abnormality of end part of shinbone" ], "HP:0006509": [ "diverticulosis of trachea", "paratracheal air cyst", "tracheal diverticulosis", "tracheal diverticulum", "tracheocele" ], "HP:0006510": [ "chronic pulmonary obstruction", "chronic obstructive pulmonary disease", "obsolete chronic obstructive airway disease from birth" ], "HP:0006541": [ "chronic pulmonary obstruction", "chronic obstructive pulmonary disease", "obsolete chronic obstructive airway disease from birth" ], "HP:0006511": [ "laryngeal stridor", "laryngeal stidor" ], "HP:0006514": [ "intraalveolar nodular calcification", "intraalveolar nodular calcifications" ], "HP:0006515": [ "interstitial pneumonitis" ], "HP:0006516": [ "hypersensitivity pneumonitis" ], "HP:0006517": [ "intraalveolar phospholipid accumulation", "alveolar proteinosis", "detection of pas - positive extracellular material in broncho - alveolar lavage", "pulmonary alveolar proteinosis", "obsolete intraalveolar phospholipid accumulation" ], "HP:0032982": [ "intraalveolar phospholipid accumulation", "alveolar proteinosis", "detection of pas - positive extracellular material in broncho - alveolar lavage", "pulmonary alveolar proteinosis", "obsolete intraalveolar phospholipid accumulation" ], "HP:0006518": [ "pulmonary venous occlusion", "pulmonary venoocclusive disease", "pulmonary venous stenosis" ], "HP:0006519": [ "alveolar cell carcinoma" ], "HP:0006757": [ "alveolar cell carcinoma" ], "HP:0006520": [ "progressive pulmonary function impairment" ], "HP:0006521": [ "pulmonary lymphangiectasia", "pulmonary lymphangiectasis" ], "HP:0006526": [ "pulmonary lymphangiectasia", "pulmonary lymphangiectasis" ], "HP:0006551": [ "pulmonary lymphangiectasia", "pulmonary lymphangiectasis" ], "HP:0006522": [ "repeat pneumothoraces", "repeated pneumothoraces", "repeat pneumothorax", "repeated pneumothorax" ], "HP:0006524": [ "tracheobronchial leiomyomatosis" ], "HP:0006527": [ "lymphocytic interstitial pneumonia", "lymphocytic interstitial pneumonitis", "lymphoid interstitial pneumonia", "lymphoid interstitial pneumonitis" ], "HP:0006528": [ "chronic lung disease" ], "HP:0006529": [ "abnormal pulmonary lymphatics" ], "HP:0006530": [ "abnormal pulmonary interstitial morphology", "abnormal lung parenchyma morphology", "abnormality in area between air sac in lung", "abnormality in area between air sacs in lung", "interstitial lung disease", "interstitial pulmonary disease" ], "HP:0006513": [ "abnormal pulmonary interstitial morphology", "abnormal lung parenchyma morphology", "abnormality in area between air sac in lung", "abnormality in area between air sacs in lung", "interstitial lung disease", "interstitial pulmonary disease" ], "HP:0006547": [ "abnormal pulmonary interstitial morphology", "abnormal lung parenchyma morphology", "abnormality in area between air sac in lung", "abnormality in area between air sacs in lung", "interstitial lung disease", "interstitial pulmonary disease" ], "HP:0006531": [ "pleural lymphangiectasia" ], "HP:0006532": [ "recurrent pneumonia", "multiple pulmonary infection", "multiple pulmonary infections", "pneumonia , recurrent", "pneumonia , recurrent episode", "pneumonia , recurrent episodes", "pulmonary infection", "pulmonary infections", "pulmonary infection , recurrent", "pulmonary infections , recurrent", "recurrent pulmonary infection", "recurrent pulmonary infections" ], "HP:0002095": [ "recurrent pneumonia", "multiple pulmonary infection", "multiple pulmonary infections", "pneumonia , recurrent", "pneumonia , recurrent episode", "pneumonia , recurrent episodes", "pulmonary infection", "pulmonary infections", "pulmonary infection , recurrent", "pulmonary infections , recurrent", "recurrent pulmonary infection", "recurrent pulmonary infections" ], "HP:0002096": [ "recurrent pneumonia", "multiple pulmonary infection", "multiple pulmonary infections", "pneumonia , recurrent", "pneumonia , recurrent episode", "pneumonia , recurrent episodes", "pulmonary infection", "pulmonary infections", "pulmonary infection , recurrent", "pulmonary infections , recurrent", "recurrent pulmonary infection", "recurrent pulmonary infections" ], "HP:0006533": [ "bronchodysplasia" ], "HP:0006535": [ "recurrent intrapulmonary hemorrhage", "recurrent bleed into lung", "recurrent bleeding into lungs", "recurrent intrapulmonary haemorrhage", "recurrent pulmonary haemorrhage", "recurrent pulmonary hemorrhage" ], "HP:0006536": [ "airway obstruction", "obstructive lung disease", "pulmonary obstruction" ], "HP:0006512": [ "airway obstruction", "obstructive lung disease", "pulmonary obstruction" ], "HP:0006538": [ "recurrent bronchopulmonary infection", "recurrent bronchopulmonary infections", "recurrent infection in bronchus and lung", "recurrent infections in bronchi and lungs" ], "HP:0006539": [ "bronchial cartilage hypoplasia", "underdevelopment of the bronical cartilage" ], "HP:0006543": [ "cardiorespiratory arrest" ], "HP:0006544": [ "extrapulmonary sequestrum", "diaphragmatic sequestrum" ], "HP:0006548": [ "pulmonary arteriovenous malformation", "pulmonary av malformation" ], "HP:0002114": [ "pulmonary arteriovenous malformation", "pulmonary av malformation" ], "HP:0006537": [ "pulmonary arteriovenous malformation", "pulmonary av malformation" ], "HP:0006549": [ "unilateral primary pulmonary dysgenesis", "primary pulmonary dysgenesis , unilateral" ], "HP:0006552": [ "fibrocystic lung disease" ], "HP:0006554": [ "acute hepatic failure", "acute liver failure" ], "HP:0006556": [ "acute hepatic failure", "acute liver failure" ], "HP:0006555": [ "diffuse hepatic steatosis", "hepatic steatosis , diffuse" ], "HP:0006557": [ "polycystic liver disease" ], "HP:0006558": [ "decreased mitochondrial complex iii activity in liver tissue" ], "HP:0006559": [ "hepatic calcification", "liver calcification", "liver calcifications" ], "HP:0006560": [ "biliary hyperplasia", "bile duct hyperplasia" ], "HP:0006561": [ "lipid accumulation in hepatocytes" ], "HP:0006562": [ "viral hepatitis" ], "HP:0006563": [ "malformation of the hepatic ductal plate" ], "HP:0006564": [ "fluctuate hepatomegaly", "fluctuating hepatomegaly" ], "HP:0006565": [ "increase hepatocellular lipid droplet", "increased hepatocellular lipid droplets" ], "HP:0006566": [ "neonatal cholestatic liver disease" ], "HP:0006568": [ "increase hepatic glycogen content", "increased hepatic glycogen content", "increase liver glycogen content", "increased liver glycogen content" ], "HP:0006571": [ "reduced number of intrahepatic bile duct", "reduced number of intrahepatic bile ducts", "hepatic ductopenia", "intrahepatic duct deficiency" ], "HP:0006572": [ "subacute progressive viral hepatitis" ], "HP:0006573": [ "acute hepatic steatosis", "acute fatty liver" ], "HP:0006574": [ "hepatic arteriovenous malformation", "liver arteriovenous malformation" ], "HP:0006569": [ "hepatic arteriovenous malformation", "liver arteriovenous malformation" ], "HP:0006575": [ "intrahepatic cholestasis with episodic jaundice" ], "HP:0006576": [ "hepatic vascular malformation", "hepatic vascular malformations", "liver vascular malformation", "liver vascular malformations" ], "HP:0006577": [ "macronodular cirrhosis" ], "HP:0006579": [ "prolonged neonatal jaundice", "jaundice , neonatal", "neonatal jaundice", "prolonged yellowing of skin in newborn" ], "HP:0000986": [ "prolonged neonatal jaundice", "jaundice , neonatal", "neonatal jaundice", "prolonged yellowing of skin in newborn" ], "HP:0006580": [ "portal fibrosis", "portal fibrosis show on biopsy", "portal fibrosis shown on biopsy" ], "HP:0006581": [ "depletion of mitochondrial dna in liver" ], "HP:0006582": [ "reye syndrome - like episode", "reye syndrome - like episodes" ], "HP:0006583": [ "fatal liver failure in infancy" ], "HP:0006584": [ "small abnormally form scapula", "small abnormally formed scapulae", "small abnormally formed scapula", "small abnormally form shoulder blade", "small abnormally formed shoulder blade" ], "HP:0006629": [ "small abnormally form scapula", "small abnormally formed scapulae", "small abnormally formed scapula", "small abnormally form shoulder blade", "small abnormally formed shoulder blade" ], "HP:0006585": [ "congenital pseudoarthrosis of the clavicle", "bipartite clavicle", "clavicle pseudoarthrosis", "pseudoarthrosis of clavicle" ], "HP:0006612": [ "congenital pseudoarthrosis of the clavicle", "bipartite clavicle", "clavicle pseudoarthrosis", "pseudoarthrosis of clavicle" ], "HP:0006661": [ "congenital pseudoarthrosis of the clavicle", "bipartite clavicle", "clavicle pseudoarthrosis", "pseudoarthrosis of clavicle" ], "HP:0006587": [ "straight clavicle", "straight clavicles", "straight collarbone" ], "HP:0006589": [ "flaring of low rib cage", "flaring of lower rib cage" ], "HP:0006590": [ "premature sternal synostosis", "prematurely close sternal suture", "prematurely closed sternal sutures" ], "HP:0006591": [ "absent glenoid fossa", "aplasia of the glenoid fossa" ], "HP:0006593": [ "anomalous rib insertion to vertebrae" ], "HP:0006595": [ "scapulohumeral synostosis", "fusion of shoulder blade to long bone in upper arm", "humero - scapulo synostosis", "humeroscapular synostosis", "synostosis of shoulder joint" ], "HP:0010792": [ "scapulohumeral synostosis", "fusion of shoulder blade to long bone in upper arm", "humero - scapulo synostosis", "humeroscapular synostosis", "synostosis of shoulder joint" ], "HP:0006596": [ "restrict chest movement", "restricted chest movement" ], "HP:0006597": [ "diaphragmatic paralysis", "paralyse diaphragm", "paralysed diaphragm", "paralyze diaphragm", "paralyzed diaphragm" ], "HP:0006598": [ "irregular ossification at anterior rib end", "irregular ossification at anterior rib ends" ], "HP:0006599": [ "medial widening of clavicle", "medial widening of clavicles" ], "HP:0006600": [ "progressive calcification of costochondral cartilage" ], "HP:0006603": [ "flare , irregular rib end", "flared , irregular rib ends" ], "HP:0006606": [ "irregular chondrocostal junction", "irregular chondrocostal junctions", "irregular costochondral margin", "irregular costochondral margins" ], "HP:0006658": [ "irregular chondrocostal junction", "irregular chondrocostal junctions", "irregular costochondral margin", "irregular costochondral margins" ], "HP:0006607": [ "precocious costochondral ossification" ], "HP:0006608": [ "midclavicular hypoplasia", "underdeveloped middle portion of the collarbone" ], "HP:0006610": [ "wide intermamillary distance", "wide - space nipple", "wide - spaced nipples", "widely space nipple", "widely spaced nipples", "widely - space nipple", "widely - spaced nipples" ], "HP:0000779": [ "wide intermamillary distance", "wide - space nipple", "wide - spaced nipples", "widely space nipple", "widely spaced nipples", "widely - space nipple", "widely - spaced nipples" ], "HP:0001554": [ "wide intermamillary distance", "wide - space nipple", "wide - spaced nipples", "widely space nipple", "widely spaced nipples", "widely - space nipple", "widely - spaced nipples" ], "HP:0006611": [ "decreased number of sternal ossification center", "decreased number of sternal ossification centers", "decreased number of sternal ossification centre", "decreased number of sternal ossification centres" ], "HP:0006615": [ "absent in utero rib ossification", "absent rib calcification in utero" ], "HP:0006619": [ "anterior rib punctate calcification", "anterior rib punctate calcifications" ], "HP:0006623": [ "costochondral joint sclerosis", "sclerotic costochondral joint", "sclerotic costochondral joints" ], "HP:0006625": [ "multifocal breast carcinoma", "multifocal breast cancer" ], "HP:0006628": [ "absent sternal ossification", "absent bone maturation in sternum", "absent sternal mineralization", "lack of sternal ossification" ], "HP:0006654": [ "absent sternal ossification", "absent bone maturation in sternum", "absent sternal mineralization", "lack of sternal ossification" ], "HP:0006666": [ "absent sternal ossification", "absent bone maturation in sternum", "absent sternal mineralization", "lack of sternal ossification" ], "HP:0006631": [ "hypoplastic distal segment of scapula", "hypoplastic distal segments of scapulae", "small distal segment of the shoulder blade", "small distal segments of the shoulder blade", "small outermost segment of shoulder blade", "small outermost segments of shoulder blade", "underdeveloped outermost segment of shoulder blade", "underdeveloped outermost segments of shoulder blade" ], "HP:0006633": [ "glenoid fossa hypoplasia", "glenoid hypoplasia", "hypoplastic glenoid fossa" ], "HP:0006632": [ "glenoid fossa hypoplasia", "glenoid hypoplasia", "hypoplastic glenoid fossa" ], "HP:0006634": [ "osteosclerosis of rib", "osteosclerosis of ribs", "increase bone density in rib", "increased bone density in ribs" ], "HP:0006637": [ "sternal punctate calcification", "sternal punctate calcifications" ], "HP:0006638": [ "midclavicular aplasia", "miss middle part of collarbone", "missing middle part of collarbone" ], "HP:0006640": [ "multiple rib fracture", "multiple rib fractures" ], "HP:0006641": [ "prominent float rib", "prominent floating ribs" ], "HP:0006642": [ "large sternal ossification center", "large sternal ossification centers", "large sternal ossification centre", "large sternal ossification centres" ], "HP:0006643": [ "fuse sternal ossification center", "fused sternal ossification centers", "fuse sternal ossification centre", "fused sternal ossification centres" ], "HP:0006644": [ "thoracic dysplasia" ], "HP:0006645": [ "thin clavicle", "thin clavicles", "thin collarbone" ], "HP:0006646": [ "costal cartilage calcification", "cartilaginous ossification of rib" ], "HP:0006662": [ "costal cartilage calcification", "cartilaginous ossification of rib" ], "HP:0006647": [ "congenital microthorax" ], "HP:0006649": [ "costochondral pain", "costochondral junction pain" ], "HP:0006650": [ "thickening of the lateral border of the scapula", "thickening of the lateral border of the shoulder blade" ], "HP:0006655": [ "rib segmentation abnormality", "rib segmentation abnormalities" ], "HP:0006657": [ "hypoplasia of first rib", "hypoplasia of first ribs", "hypoplastic first rib", "hypoplastic first ribs", "small first rib", "underdeveloped first rib" ], "HP:0006614": [ "hypoplasia of first rib", "hypoplasia of first ribs", "hypoplastic first rib", "hypoplastic first ribs", "small first rib", "underdeveloped first rib" ], "HP:0006653": [ "hypoplasia of first rib", "hypoplasia of first ribs", "hypoplastic first rib", "hypoplastic first ribs", "small first rib", "underdeveloped first rib" ], "HP:0006659": [ "internally rotate shoulder", "internally rotated shoulders" ], "HP:0006660": [ "aplastic clavicle", "absent clavicle", "absent clavicles", "absent collarbone", "aplastic clavicles" ], "HP:0006665": [ "coat hanger sign of rib", "coat hanger sign of ribs" ], "HP:0006668": [ "twelfth rib hypoplasia", "small twelfth rib", "underdeveloped twelfth rib" ], "HP:0006670": [ "impaired myocardial contractility" ], "HP:0006671": [ "paroxysmal atrial tachycardia" ], "HP:0006673": [ "reduce systolic function", "reduced systolic function" ], "HP:0006677": [ "prolonged qrs complex", "prolonged qrs complex on ekg" ], "HP:0006679": [ "granulomatous coronary arteritis" ], "HP:0006681": [ "absent atrioventricular node" ], "HP:0006682": [ "premature ventricular contraction", "extra heart beat", "miss heartbeat", "missed heartbeat", "premature ventricular beat", "premature ventricular contractions", "skip heartbeat", "skipped heartbeat", "ventricular ectopics", "ventricular extrasystole", "ventricular extrasystoles", "ventricular premature beat" ], "HP:0006678": [ "premature ventricular contraction", "extra heart beat", "miss heartbeat", "missed heartbeat", "premature ventricular beat", "premature ventricular contractions", "skip heartbeat", "skipped heartbeat", "ventricular ectopics", "ventricular extrasystole", "ventricular extrasystoles", "ventricular premature beat" ], "HP:0006683": [ "abnormal ventricular filling" ], "HP:0006684": [ "ventricular preexcitation with multiple accessory pathway", "ventricular preexcitation with multiple accessory pathways" ], "HP:0006685": [ "endocardial fibrosis", "endomyocardial fibrosis" ], "HP:0005169": [ "endocardial fibrosis", "endomyocardial fibrosis" ], "HP:0006687": [ "aortic tortuosity" ], "HP:0006688": [ "paroxysmal tachycardia" ], "HP:0006689": [ "bacterial endocarditis", "infective endocarditis" ], "HP:0006690": [ "myocardial calcification", "calcified myocardium" ], "HP:0006691": [ "pulmonic valve myxoma" ], "HP:0006692": [ "short chordae tendineae of the tricuspid valve" ], "HP:0006693": [ "myocardial steatosis" ], "HP:0006694": [ "early progressive calcific cardiac valvular disease" ], "HP:0006695": [ "obsolete atrioventricular canal defect with right ventricle aorta and pulmonary atresia", "atrioventricular canal defect", "atrioventricular septal defect", "endocardial cushion defect", "hole in center of heart", "hole in centre of heart" ], "HP:0005139": [ "atrioventricular canal defect", "atrioventricular septal defect", "endocardial cushion defect", "hole in center of heart", "hole in centre of heart" ], "HP:0010439": [ "obsolete atrioventricular canal defect with right ventricle aorta and pulmonary atresia", "atrioventricular canal defect", "atrioventricular septal defect", "endocardial cushion defect", "hole in center of heart", "hole in centre of heart" ], "HP:0006696": [ "polymorphic and polytopic ventricular extrasystole", "polymorphic and polytopic ventricular extrasystoles" ], "HP:0006698": [ "dilatation of the ventricular cavity", "ventricular aneurysm" ], "HP:0006699": [ "premature atrial contraction", "premature atrial contractions", "atrial ectopic beat", "atrial ectopic beats", "atrial premature complex", "ectopic supraventricular rhythm", "ectopic supraventricular rhythms", "pac", "pacs", "premature supraventricular beat", "premature supraventricular beats" ], "HP:0006702": [ "coronary artery dissection" ], "HP:0006703": [ "aplasia / hypoplasia of the lung", "aplasia / hypoplasia of the lungs", "absent / small lung", "absent / small lungs", "absent / underdevelop lung", "absent / underdeveloped lungs" ], "HP:0006704": [ "abnormal coronary artery morphology" ], "HP:0006705": [ "abnormal atrioventricular valve morphology", "abnormality of the atrioventricular valve", "abnormality of the atrioventricular valves" ], "HP:0006675": [ "abnormal atrioventricular valve morphology", "abnormality of the atrioventricular valve", "abnormality of the atrioventricular valves" ], "HP:0006706": [ "cystic liver disease" ], "HP:0006707": [ "abnormality of the hepatic vasculature", "abnormality of liver blood vessel", "abnormality of liver blood vessels", "abnormality of the liver vasculature" ], "HP:0006709": [ "aplasia / hypoplasia of the nipple", "aplasia / hypoplasia of the nipples", "absent / rudimentary nipple", "absent / rudimentary nipples", "absent / small nipple", "absent / small nipples", "absent / underdevelop nipple", "absent / underdeveloped nipples", "nipple absent or rudimentary", "nipples absent or rudimentary" ], "HP:0006602": [ "aplasia / hypoplasia of the nipple", "aplasia / hypoplasia of the nipples", "absent / rudimentary nipple", "absent / rudimentary nipples", "absent / small nipple", "absent / small nipples", "absent / underdevelop nipple", "absent / underdeveloped nipples", "nipple absent or rudimentary", "nipples absent or rudimentary" ], "HP:0006669": [ "aplasia / hypoplasia of the nipple", "aplasia / hypoplasia of the nipples", "absent / rudimentary nipple", "absent / rudimentary nipples", "absent / small nipple", "absent / small nipples", "absent / underdevelop nipple", "absent / underdeveloped nipples", "nipple absent or rudimentary", "nipples absent or rudimentary" ], "HP:0006710": [ "aplasia / hypoplasia of the clavicle", "aplasia / hypoplasia of the clavicles", "absent / small collarbone", "absent / underdevelop collarbone", "absent / underdeveloped collarbone" ], "HP:0006711": [ "aplasia / hypoplasia involve bone of the thorax", "aplasia / hypoplasia involving bones of the thorax", "absent / small outermost thorax bone", "absent / underdevelop thorax bone", "absent / underdeveloped thorax bone" ], "HP:0006712": [ "aplasia / hypoplasia of the rib", "aplasia / hypoplasia of the ribs", "absent / small rib", "absent / small ribs", "absent / underdevelop rib", "absent / underdeveloped ribs", "hypoplastic or miss rib", "hypoplastic or missing ribs" ], "HP:0006636": [ "aplasia / hypoplasia of the rib", "aplasia / hypoplasia of the ribs", "absent / small rib", "absent / small ribs", "absent / underdevelop rib", "absent / underdeveloped ribs", "hypoplastic or miss rib", "hypoplastic or missing ribs" ], "HP:0006713": [ "aplasia / hypoplasia of the scapula", "aplasia / hypoplasia of the scapulae", "absent / small shoulder blade", "absent / underdevelop shoulder blade", "absent / underdeveloped shoulder blade" ], "HP:0006714": [ "aplasia / hypoplasia of the sternum", "absent / small sternum", "absent / underdevelop sternum", "absent / underdeveloped sternum" ], "HP:0006715": [ "glomus tympanicum paraganglioma", "tympanic nerve tumor", "tympanic nerve tumors", "tympanic nerve tumour", "tympanic nerve tumours" ], "HP:0002892": [ "glomus tympanicum paraganglioma", "tympanic nerve tumor", "tympanic nerve tumors", "tympanic nerve tumour", "tympanic nerve tumours" ], "HP:0006716": [ "hereditary nonpolyposis colorectal carcinoma" ], "HP:0006717": [ "peripheral neuroepithelioma" ], "HP:0006719": [ "benign gastrointestinal tract tumor", "benign gastrointestinal tract tumors", "benign gastrointestinal tract tumour", "benign gastrointestinal tract tumours", "benign gi tract tumor", "benign gi tract tumors", "benign gi tract tumour", "benign gi tract tumours", "non - cancerous gi tumor", "non - cancerous gi tumors", "non - cancerous gi tumour", "non - cancerous gi tumours" ], "HP:0006721": [ "acute lymphoblastic leukemia", "acute lymphatic leukaemia", "acute lymphatic leukemia", "acute lymphoblastic leukaemia", "acute lymphocytic leukaemia", "acute lymphocytic leukemia", "acute lymphoid leukaemia", "acute lymphoid leukemia" ], "HP:0004803": [ "acute lymphoblastic leukemia", "acute lymphatic leukaemia", "acute lymphatic leukemia", "acute lymphoblastic leukaemia", "acute lymphocytic leukaemia", "acute lymphocytic leukemia", "acute lymphoid leukaemia", "acute lymphoid leukemia" ], "HP:0005555": [ "acute lymphoblastic leukemia", "acute lymphatic leukaemia", "acute lymphatic leukemia", "acute lymphoblastic leukaemia", "acute lymphocytic leukaemia", "acute lymphocytic leukemia", "acute lymphoid leukaemia", "acute lymphoid leukemia" ], "HP:0006722": [ "small intestine carcinoid" ], "HP:0006723": [ "intestinal carcinoid" ], "HP:0006725": [ "pancreatic adenocarcinoma" ], "HP:0006727": [ "t - cell acute lymphoblastic leukemia", "t - cell acute lymphoblastic leukemias" ], "HP:0006729": [ "retroperitoneal chemodectomas" ], "HP:0006731": [ "follicular thyroid carcinoma" ], "HP:0006732": [ "papillary renal cell carcinoma type 2" ], "HP:0006733": [ "acute megakaryocytic leukemia", "acute megakaryocytic leukaemia", "amegl" ], "HP:0006735": [ "renal cortical adenoma", "kidney cortical adenoma" ], "HP:0006737": [ "extraadrenal pheochromocytoma", "pheochromocytoma , extraadrenal" ], "HP:0006764": [ "extraadrenal pheochromocytoma", "pheochromocytoma , extraadrenal" ], "HP:0006739": [ "squamous cell carcinoma of the skin", "squamous skin carcinoma" ], "HP:0007614": [ "squamous cell carcinoma of the skin", "squamous skin carcinoma" ], "HP:0006740": [ "transitional cell carcinoma of the bladder", "transitional cell bladder carcinoma" ], "HP:0006742": [ "congenital neuroblastoma" ], "HP:0006743": [ "embryonal rhabdomyosarcoma" ], "HP:0006744": [ "adrenocortical carcinoma", "adrenal carcinoma", "adrenal gland carinoma" ], "HP:0002889": [ "adrenocortical carcinoma", "adrenal carcinoma", "adrenal gland carinoma" ], "HP:0006759": [ "adrenocortical carcinoma", "adrenal carcinoma", "adrenal gland carinoma" ], "HP:0006747": [ "ganglioneuroblastoma" ], "HP:0006748": [ "adrenal pheochromocytoma", "pheochromocytoma , adrenal", "pheochromocytomas , adrenal" ], "HP:0006752": [ "adrenal pheochromocytoma", "pheochromocytoma , adrenal", "pheochromocytomas , adrenal" ], "HP:0006749": [ "malignant gastrointestinal tract tumor", "malignant gastrointestinal tract tumors", "malignant gastrointestinal tract tumour", "malignant gastrointestinal tract tumours", "malignant gi tract tumor", "malignant gi tract tumors", "malignant gi tract tumour", "malignant gi tract tumours" ], "HP:0006751": [ "paraspinal neurofibroma", "paraspinal neurofibromas" ], "HP:0006753": [ "neoplasm of the stomach", "neoplasia of the stomach", "stomach tumor", "stomach tumour" ], "HP:0006755": [ "cutaneous leiomyosarcoma" ], "HP:0006756": [ "diffuse leiomyomatosis" ], "HP:0006758": [ "malignant genitourinary tract tumor", "malignant genitourinary tract tumour", "malignant gu tract tumor", "malignant gu tract tumour" ], "HP:0006762": [ "renal pelvic carcinoma" ], "HP:0006763": [ "anal canal squamous carcinoma" ], "HP:0006765": [ "chondrosarcoma" ], "HP:0006766": [ "papillary renal cell carcinoma" ], "HP:0006776": [ "papillary renal cell carcinoma" ], "HP:0006767": [ "pituitary prolactin cell adenoma", "pituitary prolactinoma", "prolactin - secrete pituitary adenoma", "prolactin - secreting pituitary adenoma" ], "HP:0006768": [ "localize neuroblastoma", "localized neuroblastoma", "localise neuroblastoma", "localised neuroblastoma" ], "HP:0006769": [ "myxoid subcutaneous tumor", "myxoid subcutaneous tumors", "myxoid subcutaneous tumour", "myxoid subcutaneous tumours" ], "HP:0006770": [ "clear cell renal cell carcinoma", "nonpapillary renal cell carcinoma" ], "HP:0006771": [ "duodenal adenocarcinoma", "duodenal cancer" ], "HP:0006772": [ "renal angiomyolipoma", "angiomyolipoma", "kidney angiomyolipoma" ], "HP:0100873": [ "renal angiomyolipoma", "angiomyolipoma", "kidney angiomyolipoma" ], "HP:0006773": [ "cutaneous angiolipomas" ], "HP:0006774": [ "ovarian papillary adenocarcinoma" ], "HP:0006775": [ "multiple myeloma", "kahler 's disease", "plasmocytoma" ], "HP:0006778": [ "benign genitourinary tract neoplasm", "benign genitourinary tract tumor", "benign genitourinary tract tumour", "benign gu tract neoplasm" ], "HP:0006779": [ "alveolar rhabdomyosarcoma" ], "HP:0006780": [ "parathyroid carcinoma", "parathyroid cancer" ], "HP:0006781": [ "hurthle cell thyroid adenoma" ], "HP:0006782": [ "malignant eosinophil proliferation" ], "HP:0006783": [ "posterior pharyngeal cleft" ], "HP:0006784": [ "paranasal sinus hypoplasia", "atelectasis of paranasal sinus", "decreased growth of paranasal sinus", "decreased pneumatization of paranasal sinus", "decreased size of paranasal sinus", "decreased volume of paranasal sinus", "hypotrophic paranasal sinus", "small paranasal sinus", "underdevelopment of paranasal sinus" ], "HP:0006785": [ "limb - girdle muscular dystrophy", "limb girdle muscular dystrophy" ], "HP:0009066": [ "limb - girdle muscular dystrophy", "limb girdle muscular dystrophy" ], "HP:0006789": [ "mitochondrial encephalopathy" ], "HP:0006790": [ "cerebral cortex with spongiform change", "cerebral cortex with spongiform changes" ], "HP:0006794": [ "loss of ability to walk in first decade" ], "HP:0006799": [ "basal ganglion cyst", "basal ganglia cysts", "cystic lesion in the basal ganglion", "cystic lesions in the basal ganglia" ], "HP:0007244": [ "basal ganglion cyst", "basal ganglia cysts", "cystic lesion in the basal ganglion", "cystic lesions in the basal ganglia" ], "HP:0006801": [ "hyperactive deep tendon reflex", "hyperactive deep tendon reflexes" ], "HP:0007259": [ "hyperactive deep tendon reflex", "hyperactive deep tendon reflexes" ], "HP:0006802": [ "abnormal anterior horn cell morphology", "abnormality of the anterior horn cell", "abnormality of the anterior horn cells", "anomaly of the anterior horn cell", "anomaly of the anterior horn cells", "anterior horn cell disease" ], "HP:0006803": [ "vivid hallucination", "vivid hallucinations" ], "HP:0006808": [ "cerebral hypomyelination", "hypomyelination of the brain" ], "HP:0006812": [ "white mater abnormality in the posterior periventricular region", "white mater abnormalities in the posterior periventricular region" ], "HP:0006813": [ "focal hemiclonic seizure", "hemiclonic seizure", "hemiclonic seizures", "unilateral clonic seizure", "unilateral clonic seizures" ], "HP:0006817": [ "aplasia / hypoplasia of the cerebellar vermis", "cerebellar vermis aplasia or hypoplasia", "cerebellar vermis aplasia / hypoplasia", "hypo / aplastic vermis" ], "HP:0005690": [ "aplasia / hypoplasia of the cerebellar vermis", "cerebellar vermis aplasia or hypoplasia", "cerebellar vermis aplasia / hypoplasia", "hypo / aplastic vermis" ], "HP:0007080": [ "aplasia / hypoplasia of the cerebellar vermis", "cerebellar vermis aplasia or hypoplasia", "cerebellar vermis aplasia / hypoplasia", "hypo / aplastic vermis" ], "HP:0006818": [ "4 - layer lissencephaly", "4 - layered lissencephaly", "classic lissencephaly", "four - layer lissencephaly", "four - layered lissencephaly", "lissencephaly , type i", "type 1 lissencephaly", "type i lissencephaly" ], "HP:0006821": [ "frontal polymicrogyria", "polymicrogyria , anterior to posterior gradient" ], "HP:0006824": [ "obsolete paraganglioma - relate cranial nerve palsy", "obsolete paraganglioma - related cranial nerve palsy", "cranial nerve paralysis", "cranial nerve palsy", "cranial nerve palsies", "cranial nerve paresis" ], "HP:0001353": [ "cranial nerve paralysis", "cranial nerve palsy", "cranial nerve palsies", "cranial nerve paresis" ], "HP:0006825": [ "pallor of dorsal column of the spinal cord", "pallor of dorsal columns of the spinal cord" ], "HP:0006827": [ "atrophy of the spinal cord", "degeneration of the spinal cord" ], "HP:0006829": [ "severe muscular hypotonia", "hypotonia , severe", "severely decreased muscle tone" ], "HP:0002347": [ "severe muscular hypotonia", "hypotonia , severe", "severely decreased muscle tone" ], "HP:0006834": [ "developmental stagnation at onset of seizure", "developmental stagnation at onset of seizures" ], "HP:0006837": [ "congenital horner syndrome" ], "HP:0006844": [ "absent patellar reflex", "absent patellar reflexes", "absent knee jerk reflex" ], "HP:0006846": [ "acute encephalopathy" ], "HP:0006849": [ "hypodysplasia of the corpus callosum" ], "HP:0006850": [ "hypoplasia of the ventral pons", "underdeveloped ventral pons" ], "HP:0006851": [ "symmetric spinal nerve root neurofibroma", "symmetric spinal nerve root neurofibromas", "spinal nerve root neurofibroma , symmetric , multiple", "spinal nerve root neurofibromas , symmetric , multiple" ], "HP:0006852": [ "episodic generalize hypotonia", "episodic generalized hypotonia", "episodic generalise hypotonia", "episodic generalised hypotonia" ], "HP:0006855": [ "cerebellar vermis atrophy", "atrophy of cerebellar vermis", "atrophy of the cerebellar vermis", "vermian atrophy" ], "HP:0007121": [ "cerebellar vermis atrophy", "atrophy of cerebellar vermis", "atrophy of the cerebellar vermis", "vermian atrophy" ], "HP:0007312": [ "cerebellar vermis atrophy", "atrophy of cerebellar vermis", "atrophy of the cerebellar vermis", "vermian atrophy" ], "HP:0006858": [ "impaired distal proprioception", "distal sensory loss of proprioception" ], "HP:0007056": [ "impaired distal proprioception", "distal sensory loss of proprioception" ], "HP:0007148": [ "impaired distal proprioception", "distal sensory loss of proprioception" ], "HP:0006859": [ "posterior leukoencephalopathy" ], "HP:0006863": [ "severe expressive language delay" ], "HP:0006865": [ "sensorimotor polyneuropathy affect arm more than leg", "sensorimotor polyneuropathy affecting arms more than legs" ], "HP:0006866": [ "midline central nervous system lipoma", "midline central nervous system lipomas", "midline cns lipoma", "midline cns lipomas" ], "HP:0006870": [ "lobar holoprosencephaly" ], "HP:0006872": [ "obsolete brain very small", "cerebral hypoplasia", "small cerebrum", "underdeveloped cerebrum" ], "HP:0006873": [ "symmetrical progressive peripheral demyelination" ], "HP:0006879": [ "pontocerebellar atrophy", "cerebellopontine atrophy" ], "HP:0006880": [ "cerebellar hemangioblastoma", "hemangioblastoma , sporadic cerebellar" ], "HP:0006761": [ "cerebellar hemangioblastoma", "hemangioblastoma , sporadic cerebellar" ], "HP:0006881": [ "diffuse peripheral demyelination" ], "HP:0006882": [ "severe hydrocephalus" ], "HP:0006886": [ "impaired distal vibration sensation", "decrease distal vibration sense", "decreased distal vibration sense" ], "HP:0006887": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0001261": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0006924": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0007025": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0007044": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0007243": [ "intellectual disability , progressive", "mental retardation , progressive", "progressive mental retardation" ], "HP:0006888": [ "meningoencephalocele" ], "HP:0006889": [ "intellectual disability , borderline", "mental retardation , borderline" ], "HP:0006891": [ "thick cerebral cortex" ], "HP:0006892": [ "frontotemporal cerebral atrophy", "cerebral atrophy , frontotemporal" ], "HP:0006893": [ "obsolete severely dysplastic cerebellum", "cerebellar dysplasia" ], "HP:0006894": [ "hypoplastic olfactory lobe", "hypoplastic olfactory lobes" ], "HP:0006895": [ "low limb hypertonia", "lower limb hypertonia" ], "HP:0006896": [ "hypnopompic hallucination", "hypnopompic hallucinations" ], "HP:0006897": [ "abducens palsy", "abducens nerve palsy", "abducens nerve paralysis", "abducens nerve paresis", "cranial nerve vi palsy", "lateral rectus muscle denervation paresis", "sixth nerve palsy", "obsolete abducens palsy" ], "HP:0011349": [ "abducens palsy", "abducens nerve palsy", "abducens nerve paralysis", "abducens nerve paresis", "cranial nerve vi palsy", "lateral rectus muscle denervation paresis", "sixth nerve palsy", "obsolete abducens palsy" ], "HP:0006899": [ "fusion of the cerebellar hemisphere", "fusion of the cerebellar hemispheres" ], "HP:0006901": [ "obsolete impair thermal sensitivity", "obsolete impaired thermal sensitivity", "impaired temperature sensation", "abnormality of temperature sensation", "impaired thermal sensitivity", "loss of temperature sensation" ], "HP:0006903": [ "congenital peripheral neuropathy" ], "HP:0006904": [ "late - onset spinocerebellar degeneration" ], "HP:0006906": [ "congenital intracerebral calcification" ], "HP:0006913": [ "frontal cortical atrophy", "frontal cortex degeneration" ], "HP:0006915": [ "inability to walk by childhood / adolescence" ], "HP:0006916": [ "intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material", "intraaxonal accumulation of curvilinear profile", "intraaxonal accumulation of curvilinear profiles" ], "HP:0006918": [ "diffuse cerebral sclerosis" ], "HP:0006919": [ "abnormal aggressive , impulsive or violent behavior", "abnormal aggressive , impulsive or violent behaviour", "aggressive / violent behavior", "aggressive / violent behaviour" ], "HP:0006921": [ "axial muscle stiffness" ], "HP:0006926": [ "metachromatic leukodystrophy variant" ], "HP:0007079": [ "metachromatic leukodystrophy variant" ], "HP:0006927": [ "unilateral polymicrogyria" ], "HP:0006929": [ "hypoglycemic encephalopathy" ], "HP:0006930": [ "frontoparietal cortical dysplasia" ], "HP:0006931": [ "pericallosal lipoma", "lipoma of corpus callosum" ], "HP:0006932": [ "transient psychotic episode", "transient psychotic episodes" ], "HP:0006934": [ "congenital nystagmus", "nystagmus , congenital" ], "HP:0006937": [ "impaired distal tactile sensation", "decrease distal touch sense", "decreased distal touch sense", "decrease touch sensation in extremity", "decreased touch sensation in extremities" ], "HP:0006981": [ "impaired distal tactile sensation", "decrease distal touch sense", "decreased distal touch sense", "decrease touch sensation in extremity", "decreased touch sensation in extremities" ], "HP:0006938": [ "impaired vibration sensation at ankle", "impaired vibration sensation at ankles", "decrease vibration sense at ankle", "decreased vibration sense at ankles", "decrease vibration sense in foot", "decreased vibration sense in feet" ], "HP:0007144": [ "impaired vibration sensation at ankle", "impaired vibration sensation at ankles", "decrease vibration sense at ankle", "decreased vibration sense at ankles", "decrease vibration sense in foot", "decreased vibration sense in feet" ], "HP:0006943": [ "diffuse spongiform leukoencephalopathy" ], "HP:0006944": [ "abolish vibration sense", "abolished vibration sense", "apallesthesia" ], "HP:0006946": [ "recurrent meningitis" ], "HP:0006949": [ "episodic peripheral neuropathy" ], "HP:0006951": [ "retrocerebellar cyst" ], "HP:0006955": [ "olivopontocerebellar hypoplasia" ], "HP:0007168": [ "olivopontocerebellar hypoplasia" ], "HP:0006956": [ "dilation of lateral ventricle", "dilation of lateral ventricles", "dilatation of lateral cerebral ventricle", "dilatation of lateral cerebral ventricles", "enlarged lateral ventricle", "enlarged lateral ventricles", "lateral ventricle dilatation" ], "HP:0006796": [ "dilation of lateral ventricle", "dilation of lateral ventricles", "dilatation of lateral cerebral ventricle", "dilatation of lateral cerebral ventricles", "enlarged lateral ventricle", "enlarged lateral ventricles", "lateral ventricle dilatation" ], "HP:0006945": [ "dilation of lateral ventricle", "dilation of lateral ventricles", "dilatation of lateral cerebral ventricle", "dilatation of lateral cerebral ventricles", "enlarged lateral ventricle", "enlarged lateral ventricles", "lateral ventricle dilatation" ], "HP:0007173": [ "dilation of lateral ventricle", "dilation of lateral ventricles", "dilatation of lateral cerebral ventricle", "dilatation of lateral cerebral ventricles", "enlarged lateral ventricle", "enlarged lateral ventricles", "lateral ventricle dilatation" ], "HP:0006957": [ "loss of ability to walk" ], "HP:0006958": [ "abnormal auditory evoke potential", "abnormal auditory evoked potentials", "abnormal brainstem auditory - evoked potential", "abnormal brainstem auditory - evoked potentials" ], "HP:0003151": [ "abnormal auditory evoke potential", "abnormal auditory evoked potentials", "abnormal brainstem auditory - evoked potential", "abnormal brainstem auditory - evoked potentials" ], "HP:0004462": [ "abnormal auditory evoke potential", "abnormal auditory evoked potentials", "abnormal brainstem auditory - evoked potential", "abnormal brainstem auditory - evoked potentials" ], "HP:0006923": [ "abnormal auditory evoke potential", "abnormal auditory evoked potentials", "abnormal brainstem auditory - evoked potential", "abnormal brainstem auditory - evoked potentials" ], "HP:0006959": [ "proximal spinal muscular atrophy" ], "HP:0006960": [ "choroid plexus calcification", "calcify choroid plexus", "calcified choroid plexus" ], "HP:0006961": [ "jerky head movement", "jerky head movements", "head jerking", "jerk head movement", "jerking head movements" ], "HP:0006962": [ "gait instability , bad in the dark", "gait instability , worse in the dark", "unstable walking , bad in the dark", "unstable walking , worse in the dark" ], "HP:0006964": [ "cerebral cortical neurodegeneration" ], "HP:0006965": [ "acute necrotizing encephalopathy" ], "HP:0006970": [ "periventricular leukomalacia" ], "HP:0006976": [ "necrotizing encephalopathy" ], "HP:0006977": [ "grammar - specific speech disorder" ], "HP:0006978": [ "dysmyelinating leukodystrophy" ], "HP:0006979": [ "sleep - wake cycle disturbance" ], "HP:0006980": [ "progressive leukoencephalopathy", "leukoencephalopathy , progressive" ], "HP:0006983": [ "slowly progressive spastic quadriparesis" ], "HP:0006984": [ "distal sensory loss of all modality", "distal sensory loss of all modalities" ], "HP:0006986": [ "upper limb spasticity", "uncontrollable movement in upper arm", "uncontrollable movement in upper arms" ], "HP:0006988": [ "alobar holoprosencephaly" ], "HP:0006989": [ "dysplastic corpus callosum", "dysgenesis of corpus callosum", "dysplasia of corpus callosum" ], "HP:0006996": [ "dysplastic corpus callosum", "dysgenesis of corpus callosum", "dysplasia of corpus callosum" ], "HP:0006990": [ "myelin - dependent gliosis" ], "HP:0006992": [ "anterior basal encephalocele" ], "HP:0006994": [ "diffuse leukoencephalopathy" ], "HP:0006999": [ "basal ganglion gliosis", "basal ganglia gliosis", "gliosis in the basal ganglion", "gliosis in the basal ganglia" ], "HP:0007000": [ "morning myoclonic jerk", "morning myoclonic jerks" ], "HP:0007001": [ "loss of purkinje cell in the cerebellar vermis", "loss of purkinje cells in the cerebellar vermis" ], "HP:0007002": [ "motor axonal neuropathy", "distal motor neuropathy", "length dependent motor neuropathy" ], "HP:0007349": [ "motor axonal neuropathy", "distal motor neuropathy", "length dependent motor neuropathy" ], "HP:0007006": [ "dorsal column degeneration" ], "HP:0007007": [ "cavitation of the basal ganglion", "cavitation of the basal ganglia" ], "HP:0007246": [ "cavitation of the basal ganglion", "cavitation of the basal ganglia" ], "HP:0007009": [ "central nervous system degeneration", "cns degeneration" ], "HP:0007010": [ "poor fine motor coordination", "fine motor disability", "fine motor impairment", "fine motor skill dysfunction", "impaired fine motor skill", "impaired fine motor skills" ], "HP:0007011": [ "fourth cranial nerve palsy", "trochlear nerve palsy" ], "HP:0007015": [ "poor gross motor coordination", "gross motor impairment" ], "HP:0007016": [ "corticospinal tract hypoplasia" ], "HP:0007017": [ "progressive forgetfulness", "forgetfullness" ], "HP:0007018": [ "attention deficit hyperactivity disorder", "attention deficit", "attention deficit disorder", "attention deficit - hyperactivity disorder", "attention deficits", "childhood attention deficit / hyperactivity disorder" ], "HP:0001576": [ "attention deficit hyperactivity disorder", "attention deficit", "attention deficit disorder", "attention deficit - hyperactivity disorder", "attention deficits", "childhood attention deficit / hyperactivity disorder" ], "HP:0001577": [ "attention deficit hyperactivity disorder", "attention deficit", "attention deficit disorder", "attention deficit - hyperactivity disorder", "attention deficits", "childhood attention deficit / hyperactivity disorder" ], "HP:0006973": [ "attention deficit hyperactivity disorder", "attention deficit", "attention deficit disorder", "attention deficit - hyperactivity disorder", "attention deficits", "childhood attention deficit / hyperactivity disorder" ], "HP:0007020": [ "progressive spastic paraplegia" ], "HP:0006875": [ "progressive spastic paraplegia" ], "HP:0007255": [ "progressive spastic paraplegia" ], "HP:0007021": [ "pain insensitivity", "absence of pain sensation" ], "HP:0003404": [ "pain insensitivity", "absence of pain sensation" ], "HP:0007023": [ "antenatal intracerebral hemorrhage", "antenatal intracerebral haemorrhage" ], "HP:0007024": [ "pseudobulbar paralysis", "pseudobulbar palsy", "pseudobulbar syndrome" ], "HP:0002201": [ "pseudobulbar paralysis", "pseudobulbar palsy", "pseudobulbar syndrome" ], "HP:0006819": [ "pseudobulbar paralysis", "pseudobulbar palsy", "pseudobulbar syndrome" ], "HP:0007027": [ "poorly form metencephalon", "poorly formed metencephalon" ], "HP:0007029": [ "cerebral berry aneurysm", "cerebral saccular aneurysm" ], "HP:0007030": [ "nonprogressive encephalopathy" ], "HP:0007033": [ "obsolete severely dysplastic cerebellum", "cerebellar dysplasia" ], "HP:0007034": [ "generalize hyperreflexia", "generalized hyperreflexia", "generalise hyperreflexia", "generalised hyperreflexia" ], "HP:0007035": [ "anterior encephalocele" ], "HP:0007036": [ "hypoplasia of olfactory tract", "underdeveloped olfactory tract" ], "HP:0007039": [ "symmetric lesion of the basal ganglion", "symmetric lesions of the basal ganglia" ], "HP:0007041": [ "chronic lymphocytic meningitis" ], "HP:0007042": [ "focal white matter lesion", "focal white matter lesions" ], "HP:0007045": [ "midline brain calcification", "midline brain calcifications" ], "HP:0007047": [ "atrophy of the dentate nucleus" ], "HP:0007048": [ "large basal ganglion", "large basal ganglia" ], "HP:0007052": [ "multifocal cerebral white matter abnormality", "multifocal cerebral white matter abnormalities" ], "HP:0007054": [ "hyperreflexia proximally" ], "HP:0007057": [ "poor hand - eye coordination" ], "HP:0007058": [ "generalize cerebral atrophy / hypoplasia", "generalized cerebral atrophy / hypoplasia", "generalised cerebral atrophy / hypoplasia", "generalised cerebral degeneration / underdevelopment", "generalize cerebral degeneration / underdevelopment", "generalized cerebral degeneration / underdevelopment" ], "HP:0007063": [ "aplasia of the inferior half of the cerebellar vermis", "absent inferior half of the cerebellar vermis" ], "HP:0007064": [ "progressive language deterioration" ], "HP:0007065": [ "disorganization of the anterior cerebellar vermis", "disorganisation of the anterior cerebellar vermis" ], "HP:0007066": [ "proximal limb muscle stiffness" ], "HP:0007067": [ "distal peripheral sensory neuropathy", "peripheral sensory neuropathy , distal" ], "HP:0007068": [ "inferior vermis hypoplasia", "hypoplasia of inferior vermis" ], "HP:0005724": [ "inferior vermis hypoplasia", "hypoplasia of inferior vermis" ], "HP:0007069": [ "profound static encephalopathy" ], "HP:0007074": [ "thick corpus callosum", "abnormal size of corpus callosum", "large corpus callosum" ], "HP:0006805": [ "thick corpus callosum", "abnormal size of corpus callosum", "large corpus callosum" ], "HP:0006807": [ "thick corpus callosum", "abnormal size of corpus callosum", "large corpus callosum" ], "HP:0200009": [ "thick corpus callosum", "abnormal size of corpus callosum", "large corpus callosum" ], "HP:0200010": [ "thick corpus callosum", "abnormal size of corpus callosum", "large corpus callosum" ], "HP:0007076": [ "extrapyramidal muscular rigidity" ], "HP:0007078": [ "decrease amplitude of sensory action potential", "decreased amplitude of sensory action potentials" ], "HP:0007081": [ "late - onset muscular dystrophy" ], "HP:0007082": [ "dilated third ventricle" ], "HP:0007083": [ "hyperactive patellar reflex", "brisk knee jerk", "hyperreflexia in knee", "hyperreflexia in knees", "overactive knee reflex" ], "HP:0007086": [ "social and occupational deterioration" ], "HP:0007089": [ "facial - lingual fasciculation", "facial - lingual fasciculations" ], "HP:0007095": [ "obsolete frontoparietal polymicrogyria", "perisylvian polymicrogyria", "frontoparietal polymicrogyria" ], "HP:0007096": [ "hypoplasia of the optic tract", "underdeveloped optic tract" ], "HP:0007097": [ "cranial nerve motor loss" ], "HP:0007098": [ "paroxysmal choreoathetosis", "choreoathetosis , episodic", "choreoathetosis , intermittent" ], "HP:0002351": [ "paroxysmal choreoathetosis", "choreoathetosis , episodic", "choreoathetosis , intermittent" ], "HP:0007099": [ "arnold - chiari type i malformation", "arnold chiari type i malformation", "chiari i malformation" ], "HP:0002440": [ "arnold - chiari type i malformation", "arnold chiari type i malformation", "chiari i malformation" ], "HP:0007100": [ "progressive ventriculomegaly" ], "HP:0007103": [ "hypointensity of cerebral white matter on mri", "white matter hypointensities on mri" ], "HP:0006804": [ "hypointensity of cerebral white matter on mri", "white matter hypointensities on mri" ], "HP:0007104": [ "prolonged somatosensory evoke potential", "prolonged somatosensory evoked potentials" ], "HP:0007105": [ "infantile encephalopathy" ], "HP:0006948": [ "infantile encephalopathy" ], "HP:0007309": [ "infantile encephalopathy" ], "HP:0007353": [ "infantile encephalopathy" ], "HP:0007107": [ "segmental peripheral demyelination" ], "HP:0007108": [ "demyelinate peripheral neuropathy", "demyelinating peripheral neuropathy" ], "HP:0007205": [ "demyelinate peripheral neuropathy", "demyelinating peripheral neuropathy" ], "HP:0007109": [ "periventricular cyst", "periventricular cysts" ], "HP:0007110": [ "central hypoventilation" ], "HP:0007111": [ "chronic hepatic encephalopathy" ], "HP:0007112": [ "temporal cortical atrophy" ], "HP:0007115": [ "orbital encephalocele" ], "HP:0007117": [ "corticospinal tract atrophy" ], "HP:0007123": [ "subcortical dementia" ], "HP:0007126": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0006792": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0006966": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0008943": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0008980": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0009041": [ "proximal amyotrophy", "muscle atrophy , proximal", "proximal muscle atrophy", "proximal muscle waste", "proximal muscle wasting", "symmetric proximal muscular atrophy", "symmetrical , proximal limb muscle atrophy", "wasting of muscle near the body", "wasting of muscles near the body" ], "HP:0007129": [ "cerebellar medulloblastoma" ], "HP:0007131": [ "acute demyelinate polyneuropathy", "acute demyelinating polyneuropathy" ], "HP:0007132": [ "pallidal degeneration" ], "HP:0007133": [ "progressive peripheral neuropathy", "progressive polyneuropathy" ], "HP:0007329": [ "progressive peripheral neuropathy", "progressive polyneuropathy" ], "HP:0007141": [ "sensorimotor neuropathy", "mixed polyneuropathy", "nerve damage cause decrease feeling and movement", "nerve damage causing decreased feeling and movement", "sensorimotor peripheral neuropathy" ], "HP:0007055": [ "sensorimotor neuropathy", "mixed polyneuropathy", "nerve damage cause decrease feeling and movement", "nerve damage causing decreased feeling and movement", "sensorimotor peripheral neuropathy" ], "HP:0007237": [ "sensorimotor neuropathy", "mixed polyneuropathy", "nerve damage cause decrease feeling and movement", "nerve damage causing decreased feeling and movement", "sensorimotor peripheral neuropathy" ], "HP:0007146": [ "bilateral basal ganglion lesion", "bilateral basal ganglia lesions" ], "HP:0007149": [ "distal upper limb amyotrophy", "distal upper limb muscle atrophy" ], "HP:0007153": [ "progressive extrapyramidal movement disorder" ], "HP:0007156": [ "asymmetric limb muscle stiffness" ], "HP:0007158": [ "progressive extrapyramidal muscular rigidity", "progressive extrapyramidal rigidity" ], "HP:0007159": [ "fluctuation in consciousness", "fluctuations in consciousness" ], "HP:0007162": [ "diffuse demyelination of the cerebral white matter" ], "HP:0007163": [ "obsolete corticospinal tract disease in low limb", "obsolete corticospinal tract disease in lower limbs" ], "HP:0007164": [ "slow slur speech", "slowed slurred speech" ], "HP:0007165": [ "periventricular heterotopia", "periventricular gray matter heterotopia", "periventricular grey matter heterotopia", "periventricular neuronal heterotopia", "subependymal gray matter heterotopia", "subependymal grey matter heterotopia", "subependymal neuronal heterotopia" ], "HP:0002272": [ "periventricular heterotopia", "periventricular gray matter heterotopia", "periventricular grey matter heterotopia", "periventricular neuronal heterotopia", "subependymal gray matter heterotopia", "subependymal grey matter heterotopia", "subependymal neuronal heterotopia" ], "HP:0007166": [ "paroxysmal dyskinesia", "involuntary dystonic or choreiform movement", "involuntary dystonic or choreiform movements" ], "HP:0007178": [ "motor polyneuropathy", "peripheral motor neuropathy" ], "HP:0007278": [ "motor polyneuropathy", "peripheral motor neuropathy" ], "HP:0007179": [ "absent smooth pursuit" ], "HP:0007181": [ "interosseus muscle atrophy", "interosseous muscular atrophy" ], "HP:0007182": [ "peripheral hypomyelination" ], "HP:0007012": [ "peripheral hypomyelination" ], "HP:0007160": [ "peripheral hypomyelination" ], "HP:0007226": [ "peripheral hypomyelination" ], "HP:0007183": [ "focal t2 hyperintense basal ganglion lesion", "focal t2 hyperintense basal ganglia lesion", "hyperintense lesion in the basal ganglion on mri", "hyperintense lesions in the basal ganglia on mri" ], "HP:0007185": [ "loss of consciousness", "pass out", "passing out" ], "HP:0007187": [ "focal lissencephaly" ], "HP:0007188": [ "congenital facial diplegia", "congenital bilateral facial palsy", "congenital bilateral facial weakness" ], "HP:0007190": [ "neuronal loss in the cerebral cortex" ], "HP:0007193": [ "bilateral tonic - clonic seizure on awaken", "bilateral tonic - clonic seizure on awakening", "generalise tonic - clonic seizure on awaken", "generalised tonic - clonic seizures on awakening", "generalize tonic - clonic seizure on awaken", "generalized tonic - clonic seizures on awakening", "morning generalise tonic - clonic seizure", "morning generalised tonic - clonic seizures", "morning generalize tonic - clonic seizure", "morning generalized tonic - clonic seizures" ], "HP:0007008": [ "bilateral tonic - clonic seizure on awaken", "bilateral tonic - clonic seizure on awakening", "generalise tonic - clonic seizure on awaken", "generalised tonic - clonic seizures on awakening", "generalize tonic - clonic seizure on awaken", "generalized tonic - clonic seizures on awakening", "morning generalise tonic - clonic seizure", "morning generalised tonic - clonic seizures", "morning generalize tonic - clonic seizure", "morning generalized tonic - clonic seizures" ], "HP:0007199": [ "progressive spastic paraparesis" ], "HP:0007200": [ "episodic hypersomnia" ], "HP:0007201": [ "cerebral artery atherosclerosis", "plaque build - up in cerebral artery" ], "HP:0007204": [ "diffuse white matter abnormality", "diffuse white matter abnormalities" ], "HP:0007206": [ "hemimegalencephaly" ], "HP:0007207": [ "photosensitive tonic - clonic seizure", "photically induce tonic - clonic seizure", "photically induced tonic - clonic seizure", "photosensitive tonic - clonic seizures", "seizure , tonic - clonic , photosensitive", "seizures , tonic - clonic , photosensitive" ], "HP:0007208": [ "irregular myelin loop", "irregular myelin loops" ], "HP:0007209": [ "facial paralysis", "facial paresis" ], "HP:0007358": [ "facial paralysis", "facial paresis" ], "HP:0007210": [ "low limb amyotrophy", "lower limb amyotrophy" ], "HP:0007215": [ "periodic hyperkalemic paralysis", "hyperkalemic periodic paralysis" ], "HP:0007220": [ "demyelinate motor neuropathy", "demyelinating motor neuropathy" ], "HP:0007221": [ "progressive truncal ataxia" ], "HP:0007227": [ "macrogyria" ], "HP:0007229": [ "intracerebral periventricular calcification", "intracerebral periventricular calcifications" ], "HP:0007230": [ "decrease distal sensory nerve action potential", "decreased distal sensory nerve action potential" ], "HP:0007232": [ "spinocerebellar tract disease in low limb", "spinocerebellar tract disease in lower limbs" ], "HP:0007233": [ "cluster of axonal regeneration", "clusters of axonal regeneration" ], "HP:0007236": [ "recurrent subcortical infarct", "recurrent subcortical infarcts" ], "HP:0007238": [ "nonarteriosclerotic cerebral calcification", "cerebral calcification , nonarteriosclerotic" ], "HP:0007239": [ "congenital encephalopathy" ], "HP:0007240": [ "progressive gait ataxia", "gait ataxia , progressive" ], "HP:0002142": [ "progressive gait ataxia", "gait ataxia , progressive" ], "HP:0007249": [ "decreased number of small peripheral myelinated nerve fiber", "decreased number of small peripheral myelinated nerve fibers", "decreased number of small peripheral myelinated nerve fibre", "decreased number of small peripheral myelinated nerve fibres" ], "HP:0007250": [ "recurrent external ophthalmoplegia" ], "HP:0007256": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0003488": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007161": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007225": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007275": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007324": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007347": [ "abnormal pyramidal sign", "corticospinal sign", "corticospinal signs", "pyramidal sign", "pyramidal signs", "pyramidal tract sign", "pyramidal tract signs" ], "HP:0007258": [ "severe demyelination of the white matter" ], "HP:0007260": [ "type ii lissencephaly", "cobblestone lissencephaly", "lissencephaly type ii", "type 2 lissencephaly" ], "HP:0006853": [ "type ii lissencephaly", "cobblestone lissencephaly", "lissencephaly type ii", "type 2 lissencephaly" ], "HP:0007262": [ "symmetric peripheral demyelination" ], "HP:0007263": [ "spinocerebellar atrophy" ], "HP:0007265": [ "absent mesencephalon" ], "HP:0007266": [ "cerebral dysmyelination", "area of dysmyelination on mri", "areas of dysmyelination on mri", "dysmyelination of the brain", "white matter dysmyelination / demyelination" ], "HP:0007134": [ "cerebral dysmyelination", "area of dysmyelination on mri", "areas of dysmyelination on mri", "dysmyelination of the brain", "white matter dysmyelination / demyelination" ], "HP:0007217": [ "cerebral dysmyelination", "area of dysmyelination on mri", "areas of dysmyelination on mri", "dysmyelination of the brain", "white matter dysmyelination / demyelination" ], "HP:0007267": [ "chronic axonal neuropathy", "chronic sural axonal neuropathy" ], "HP:0003446": [ "chronic axonal neuropathy", "chronic sural axonal neuropathy" ], "HP:0007268": [ "aprosencephaly" ], "HP:0007269": [ "spinal muscular atrophy", "spinal muscle degeneration", "spinal muscle waste", "spinal muscle wasting" ], "HP:0007270": [ "atypical absence seizure", "atypical absence", "atypical absence seizures", "atypical petit mal seizure", "atypical petit mal seizures" ], "HP:0007271": [ "occipital myelomeningocele" ], "HP:0007272": [ "progressive psychomotor deterioration", "progressive mental and motor deterioration" ], "HP:0006856": [ "progressive psychomotor deterioration", "progressive mental and motor deterioration" ], "HP:0007274": [ "recurrent bacterial meningitis" ], "HP:0007277": [ "paucity of anterior horn motor neuron", "paucity of anterior horn motor neurons" ], "HP:0007280": [ "acute infantile spinal muscular atrophy" ], "HP:0007281": [ "developmental stagnation", "developmental arrest" ], "HP:0007130": [ "developmental stagnation", "developmental arrest" ], "HP:0007198": [ "developmental stagnation", "developmental arrest" ], "HP:0007285": [ "facial palsy secondary to cranial hyperostosis", "facial palsy cause by enlargement of cranial bone", "facial palsy caused by enlargement of cranial bones", "facial palsy cause by excessive growth of facial bone", "facial palsy caused by excessive growth of facial bones", "facial palsy cause by overgrowth of cranial bone", "facial palsy caused by overgrowth of cranial bones", "facial palsy secondary to hypertrophy of cranial bone", "facial palsy secondary to hypertrophy of cranial bones" ], "HP:0007286": [ "horizontal jerk nystagmus" ], "HP:0007289": [ "limb fasciculation", "limb fasciculations" ], "HP:0007049": [ "limb fasciculation", "limb fasciculations" ], "HP:0007291": [ "posterior fossa cyst" ], "HP:0006985": [ "posterior fossa cyst" ], "HP:0007293": [ "anterior sacral meningocele" ], "HP:0007295": [ "chaotic rapid conjugate ocular movement", "chaotic rapid conjugate ocular movements" ], "HP:0007299": [ "dysfunction of lateral corticospinal tract", "dysfunction of lateral corticospinal tracts" ], "HP:0007301": [ "oromotor apraxia" ], "HP:0007302": [ "bipolar affective disorder", "bipolar disorder" ], "HP:0000755": [ "bipolar affective disorder", "bipolar disorder" ], "HP:0007305": [ "cns demyelination", "demyelination in central white matter" ], "HP:0007222": [ "cns demyelination", "demyelination in central white matter" ], "HP:0007307": [ "rapid neurologic deterioration" ], "HP:0007308": [ "extrapyramidal dyskinesia" ], "HP:0007311": [ "short step shuffle gait", "short stepped shuffling gait", "short step shuffle walk", "short stepped shuffling walk" ], "HP:0007313": [ "cerebral degeneration", "neuroaxonal degeneration in the brain" ], "HP:0006874": [ "cerebral degeneration", "neuroaxonal degeneration in the brain" ], "HP:0007321": [ "deep white matter hypodensities", "deep cerebral white matter hypodensities" ], "HP:0007325": [ "generalize dystonia", "generalized dystonia", "generalise dystonia", "generalised dystonia" ], "HP:0007326": [ "progressive choreoathetosis" ], "HP:0007327": [ "mixed demyelinating and axonal polyneuropathy" ], "HP:0007328": [ "impaired pain sensation", "decrease pain sensation", "decreased pain sensation", "decrease pinprick sensation", "decreased pinprick sensation" ], "HP:0002713": [ "impaired pain sensation", "decrease pain sensation", "decreased pain sensation", "decrease pinprick sensation", "decreased pinprick sensation" ], "HP:0007330": [ "frontal encephalocele" ], "HP:0007332": [ "focal hemifacial clonic seizure", "hemifacial seizure", "hemifacial seizures" ], "HP:0007333": [ "hypoplasia of the frontal lobe", "hypoplasia of the frontal lobes", "frontal lobe hypoplasia", "hypoplastic frontal lobe", "hypoplastic frontal lobes", "underdeveloped frontal lobe" ], "HP:0002424": [ "hypoplasia of the frontal lobe", "hypoplasia of the frontal lobes", "frontal lobe hypoplasia", "hypoplastic frontal lobe", "hypoplastic frontal lobes", "underdeveloped frontal lobe" ], "HP:0007334": [ "bilateral tonic - clonic seizure with focal onset", "'generalised ' tonic - clonic seizure with focal onset", "'generalised ' tonic - clonic seizure with partial onset", "'generalized ' tonic - clonic seizure with focal onset", "'generalized ' tonic - clonic seizure with partial onset", "focal seizure with secondary generalisation", "focal seizure with secondary generalization", "focal to bilateral tonic - clonic seizure", "generalise tonic - clonic seizure with focal onset", "generalised tonic - clonic seizures with focal onset", "generalize tonic - clonic seizure with focal onset", "generalized tonic - clonic seizures with focal onset", "partial seizure with secondary generalisation", "partial seizure with secondary generalization", "partial seizures with secondary generalisation", "partial seizures with secondary generalization", "secondarily generalise tonic - clonic seizure", "secondarily generalised tonic - clonic seizure", "secondarily generalised tonic - clonic seizures", "secondarily generalize tonic - clonic seizure", "secondarily generalized tonic - clonic seizure", "secondary generalise tonic clonic seizure", "secondary generalised tonic clonic seizures", "secondary generalise tonic - clonic seizure", "secondary generalised tonic - clonic seizures", "secondary generalize tonic clonic seizure", "secondary generalized tonic clonic seizures", "secondary generalize tonic - clonic seizure", "secondary generalized tonic - clonic seizures" ], "HP:0002602": [ "bilateral tonic - clonic seizure with focal onset", "'generalised ' tonic - clonic seizure with focal onset", "'generalised ' tonic - clonic seizure with partial onset", "'generalized ' tonic - clonic seizure with focal onset", "'generalized ' tonic - clonic seizure with partial onset", "focal seizure with secondary generalisation", "focal seizure with secondary generalization", "focal to bilateral tonic - clonic seizure", "generalise tonic - clonic seizure with focal onset", "generalised tonic - clonic seizures with focal onset", "generalize tonic - clonic seizure with focal onset", "generalized tonic - clonic seizures with focal onset", "partial seizure with secondary generalisation", "partial seizure with secondary generalization", "partial seizures with secondary generalisation", "partial seizures with secondary generalization", "secondarily generalise tonic - clonic seizure", "secondarily generalised tonic - clonic seizure", "secondarily generalised tonic - clonic seizures", "secondarily generalize tonic - clonic seizure", "secondarily generalized tonic - clonic seizure", "secondary generalise tonic clonic seizure", "secondary generalised tonic clonic seizures", "secondary generalise tonic - clonic seizure", "secondary generalised tonic - clonic seizures", "secondary generalize tonic clonic seizure", "secondary generalized tonic clonic seizures", "secondary generalize tonic - clonic seizure", "secondary generalized tonic - clonic seizures" ], "HP:0007335": [ "recurrent encephalopathy", "recurrent cerebellar and extrapyramidal encephalopathy" ], "HP:0006947": [ "recurrent encephalopathy", "recurrent cerebellar and extrapyramidal encephalopathy" ], "HP:0007338": [ "hypermetric saccade", "hypermetric saccades" ], "HP:0007340": [ "low limb muscle weakness", "lower limb muscle weakness", "leg weakness", "low extremity weakness", "lower extremity weakness", "low limb weakness", "lower limb weakness", "muscle weakness in low limb", "muscle weakness in lower limbs" ], "HP:0002065": [ "low limb muscle weakness", "lower limb muscle weakness", "leg weakness", "low extremity weakness", "lower extremity weakness", "low limb weakness", "lower limb weakness", "muscle weakness in low limb", "muscle weakness in lower limbs" ], "HP:0002477": [ "low limb muscle weakness", "lower limb muscle weakness", "leg weakness", "low extremity weakness", "lower extremity weakness", "low limb weakness", "lower limb weakness", "muscle weakness in low limb", "muscle weakness in lower limbs" ], "HP:0009047": [ "low limb muscle weakness", "lower limb muscle weakness", "leg weakness", "low extremity weakness", "lower extremity weakness", "low limb weakness", "lower limb weakness", "muscle weakness in low limb", "muscle weakness in lower limbs" ], "HP:0007341": [ "diffuse swelling of cerebral white matter" ], "HP:0007343": [ "abnormal morphology of the limbic system", "limbic malformation" ], "HP:0007344": [ "atrophy / degeneration involve the spinal cord", "atrophy / degeneration involving the spinal cord", "atrophic and degenerative change in the spinal cord", "atrophic and degenerative changes in the spinal cord" ], "HP:0007346": [ "subcortical white matter calcification", "subcortical white matter calcifications" ], "HP:0007348": [ "hypoplasia of the pyramidal tract" ], "HP:0007350": [ "hyperreflexia in upper limb", "hyperreflexia in upper limbs" ], "HP:0007351": [ "upper limb postural tremor", "postural tremor of arm", "postural tremor of arms" ], "HP:0007297": [ "upper limb postural tremor", "postural tremor of arm", "postural tremor of arms" ], "HP:0007352": [ "cerebellar calcification", "cerebellar calcifications" ], "HP:0007354": [ "amyotrophic lateral sclerosis", "lou gehrig 's disease" ], "HP:0007359": [ "focal - onset seizure", "focal onset seizure", "focal seizure", "focal seizures", "focal - onset seizures", "partial seizure", "partial seizures", "seizure affect one half of brain", "seizure affecting one half of brain", "obsolete focal seizure , afebril", "obsolete focal seizures , afebril" ], "HP:0002358": [ "focal - onset seizure", "focal onset seizure", "focal seizure", "focal seizures", "focal - onset seizures", "partial seizure", "partial seizures", "seizure affect one half of brain", "seizure affecting one half of brain", "obsolete focal seizure , afebril", "obsolete focal seizures , afebril" ], "HP:0040168": [ "focal - onset seizure", "focal onset seizure", "focal seizure", "focal seizures", "focal - onset seizures", "partial seizure", "partial seizures", "seizure affect one half of brain", "seizure affecting one half of brain", "obsolete focal seizure , afebril", "obsolete focal seizures , afebril" ], "HP:0007360": [ "aplasia / hypoplasia of the cerebellum", "absent / small cerebellum", "absent / underdevelop cerebellum", "absent / underdeveloped cerebellum", "atrophy / degeneration affect the cerebellum", "atrophy / degeneration affecting the cerebellum", "atrophy / hypoplasia of the cerebellum", "cerebellar hypoplasia / atrophy" ], "HP:0006857": [ "aplasia / hypoplasia of the cerebellum", "absent / small cerebellum", "absent / underdevelop cerebellum", "absent / underdeveloped cerebellum", "atrophy / degeneration affect the cerebellum", "atrophy / degeneration affecting the cerebellum", "atrophy / hypoplasia of the cerebellum", "cerebellar hypoplasia / atrophy" ], "HP:0007368": [ "aplasia / hypoplasia of the cerebellum", "absent / small cerebellum", "absent / underdevelop cerebellum", "absent / underdeveloped cerebellum", "atrophy / degeneration affect the cerebellum", "atrophy / degeneration affecting the cerebellum", "atrophy / hypoplasia of the cerebellum", "cerebellar hypoplasia / atrophy" ], "HP:0007361": [ "abnormal pons morphology", "abnormality of the pons" ], "HP:0007362": [ "aplasia / hypoplasia of the brainstem", "absent / small brainstem", "absent / underdevelop brainstem", "absent / underdeveloped brainstem" ], "HP:0007363": [ "aplasia / hypoplasia of the pyramidal tract" ], "HP:0007364": [ "aplasia / hypoplasia of the cerebrum", "absent / small cerebrum", "absent / underdevelop cerebrum", "absent / underdeveloped cerebrum" ], "HP:0007365": [ "aplasia / hypoplasia involve the corticospinal tract", "aplasia / hypoplasia involving the corticospinal tracts" ], "HP:0007366": [ "atrophy / degeneration affect the brainstem", "atrophy / degeneration affecting the brainstem", "brainstem atrophy" ], "HP:0007367": [ "atrophy / degeneration affect the central nervous system", "atrophy / degeneration affecting the central nervous system", "atrophy / degeneration affect the cns", "atrophy / degeneration affecting the cns" ], "HP:0007369": [ "atrophy / degeneration affect the cerebrum", "atrophy / degeneration affecting the cerebrum" ], "HP:0007370": [ "aplasia / hypoplasia of the corpus callosum", "absent / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum", "complete or partial absence of the corpus callosum", "hypoplasia or absence of the corpus callosum", "hypoplastic or absent corpus callosum" ], "HP:0007003": [ "aplasia / hypoplasia of the corpus callosum", "absent / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum", "complete or partial absence of the corpus callosum", "hypoplasia or absence of the corpus callosum", "hypoplastic or absent corpus callosum" ], "HP:0007060": [ "aplasia / hypoplasia of the corpus callosum", "absent / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum", "complete or partial absence of the corpus callosum", "hypoplasia or absence of the corpus callosum", "hypoplastic or absent corpus callosum" ], "HP:0007061": [ "aplasia / hypoplasia of the corpus callosum", "absent / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum", "complete or partial absence of the corpus callosum", "hypoplasia or absence of the corpus callosum", "hypoplastic or absent corpus callosum" ], "HP:0007137": [ "aplasia / hypoplasia of the corpus callosum", "absent / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum", "complete or partial absence of the corpus callosum", "hypoplasia or absence of the corpus callosum", "hypoplastic or absent corpus callosum" ], "HP:0007371": [ "corpus callosum atrophy", "atrophic corpus callosum", "atrophy of the corpus callosum", "atrophy / degeneration of the corpus callosum" ], "HP:0005712": [ "corpus callosum atrophy", "atrophic corpus callosum", "atrophy of the corpus callosum", "atrophy / degeneration of the corpus callosum" ], "HP:0007372": [ "atrophy / degeneration involve the corticospinal tract", "atrophy / degeneration involving the corticospinal tracts" ], "HP:0007373": [ "motor neuron atrophy", "motor neuron degeneration" ], "HP:0007374": [ "atrophy / degeneration involve the caudate nucleus", "atrophy / degeneration involving the caudate nucleus" ], "HP:0007375": [ "abnormality of the septum pellucidum" ], "HP:0007376": [ "abnormal choroid plexus morphology" ], "HP:0007377": [ "abnormality of somatosensory evoke potential", "abnormality of somatosensory evoked potentials", "abnormality of sseps" ], "HP:0007378": [ "neoplasm of the gastrointestinal tract", "gastrointestinal tract neoplasia", "gastrointestinal tract neoplasm", "gastrointestinal tract tumor", "gastrointestinal tract tumour", "gi tract tumor", "gi tract tumour", "neoplasm of the gi tract" ], "HP:0007379": [ "neoplasm of the genitourinary tract", "genitourinary tract neoplasia", "genitourinary tract neoplasm", "genitourinary tract tumor", "genitourinary tract tumors", "genitourinary tract tumour", "genitourinary tract tumours", "neoplasm of the gu tract" ], "HP:0007380": [ "facial telangiectasia", "facial telangiectatic vessel", "facial telangiectatic vessels", "telangiectasia , facial" ], "HP:0007520": [ "facial telangiectasia", "facial telangiectatic vessel", "facial telangiectatic vessels", "telangiectasia , facial" ], "HP:0007381": [ "congenital exfoliative erythroderma" ], "HP:0007383": [ "congenital localize absence of skin", "congenital localized absence of skin", "congenital localise absence of skin", "congenital localised absence of skin", "congenital localise skin absence", "congenital localised skin absence", "congenital localize skin absence", "congenital localized skin absence" ], "HP:0007557": [ "congenital localize absence of skin", "congenital localized absence of skin", "congenital localise absence of skin", "congenital localised absence of skin", "congenital localise skin absence", "congenital localised skin absence", "congenital localize skin absence", "congenital localized skin absence" ], "HP:0007384": [ "aberrant melanosome maturation" ], "HP:0007385": [ "aplasia cutis congenita of scalp", "defect of scalp", "focal absence of scalp tissue", "scalp aplasia cutis congenita", "scalp defect", "solitary scalp defect" ], "HP:0000994": [ "aplasia cutis congenita of scalp", "defect of scalp", "focal absence of scalp tissue", "scalp aplasia cutis congenita", "scalp defect", "solitary scalp defect" ], "HP:0007568": [ "aplasia cutis congenita of scalp", "defect of scalp", "focal absence of scalp tissue", "scalp aplasia cutis congenita", "scalp defect", "solitary scalp defect" ], "HP:0007387": [ "hypoplastic sweat gland", "hypoplastic sweat glands", "underdeveloped sweat gland", "underdeveloped sweat glands" ], "HP:0007390": [ "hyperkeratosis with erythema" ], "HP:0007392": [ "excessive wrinkle skin", "excessive wrinkled skin" ], "HP:0007394": [ "prominent superficial blood vessel", "prominent superficial blood vessels", "prominent superficial vasculature" ], "HP:0007577": [ "prominent superficial blood vessel", "prominent superficial blood vessels", "prominent superficial vasculature" ], "HP:0007395": [ "postnatal - onset ichthyosiform erythroderma", "postnatal - onset ichthyosis" ], "HP:0007396": [ "early cutaneous photosensitivity", "sun sensitivity occur early in life", "sun sensitivity occurring early in life" ], "HP:0007397": [ "axillary apocrine gland hypoplasia" ], "HP:0007398": [ "asymmetric , linear skin defect", "asymmetric , linear skin defects" ], "HP:0007400": [ "irregular hyperpigmentation" ], "HP:0007401": [ "macular atrophy" ], "HP:0007402": [ "area of hypopigmentation and hyperpigmentation that do not follow blaschko line", "areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines" ], "HP:0007403": [ "hypertrophy of skin of sol", "hypertrophy of skin of soles", "thick skin of sol", "thick skin of soles" ], "HP:0007404": [ "nonepidermolytic palmoplantar hyperkeratosis", "nonepidermolytic palmoplantar keratoderma" ], "HP:0007406": [ "hyperpigmentation of eyelid", "hyperpigmentation of eyelids", "brown eyelid", "brown eyelids", "dark eyelid", "dark eyelids", "pigmentation of eyelid", "pigmentation of eyelids" ], "HP:0007407": [ "excessive skin wrinkle on dorsum of hand and finger", "excessive skin wrinkling on dorsum of hands and fingers", "excessive skin wrinkle on back of hand and finger", "excessive skin wrinkling on back of hands and fingers" ], "HP:0007408": [ "tegumentary leishmaniasis susceptibility" ], "HP:0007410": [ "palmoplantar hyperhidrosis", "excessive sweating of palm and sol", "excessive sweating of palms and soles", "hyperhidrosis of palm and sol", "hyperhidrosis of palms and soles" ], "HP:0007624": [ "palmoplantar hyperhidrosis", "excessive sweating of palm and sol", "excessive sweating of palms and soles", "hyperhidrosis of palm and sol", "hyperhidrosis of palms and soles" ], "HP:0007411": [ "hypoplastic - absent sebaceous gland", "hypoplastic - absent sebaceous glands" ], "HP:0007412": [ "macular hyperpigmented dermopathy" ], "HP:0007413": [ "nevus flammeus of the forehead", "port - wine stain on forehead" ], "HP:0007414": [ "neonatal wrinkle skin of hand and foot", "neonatal wrinkled skin of hands and feet", "wrinkled skin of hand and foot in newborn", "wrinkled skin of hands and feet in newborn" ], "HP:0007417": [ "discoid lupus rash", "discoid lupus erythematosus" ], "HP:0000981": [ "discoid lupus rash", "discoid lupus erythematosus" ], "HP:0007418": [ "alopecia totalis", "total alopecia" ], "HP:0007420": [ "spontaneous hematoma", "spontaneous hematomas" ], "HP:0007421": [ "telangiectases of the cheek", "telangiectases of the cheeks", "telangiectasia on the cheek", "telangiectasia on the cheeks" ], "HP:0007425": [ "hyperextensible skin of face", "hyperelastic face skin", "stretchable face skin" ], "HP:0007427": [ "reticulate skin pigmentation", "reticulated skin pigmentation", "reticular pigmentation pattern" ], "HP:0007428": [ "telangiectasia of the oral mucosa", "angioectasia of the oral mucosa", "angioectasia of the oral mucous membrane", "spider vein of the oral mucosa", "spider veins of the oral mucosa", "telangiectasia of the oral mucous membrane" ], "HP:0007429": [ "few cafe - au - lait spot", "few cafe - au - lait spots" ], "HP:0007430": [ "generalize edema", "generalized edema", "generalise oedema", "generalised oedema", "generalise tissue oedema", "generalised tissue oedema", "generalize tissue edema", "generalized tissue edema" ], "HP:0007575": [ "generalize edema", "generalized edema", "generalise oedema", "generalised oedema", "generalise tissue oedema", "generalised tissue oedema", "generalize tissue edema", "generalized tissue edema" ], "HP:0007431": [ "congenital ichthyosiform erythroderma", "congenital ichthyosis", "ichthyosis , congenital" ], "HP:0007478": [ "congenital ichthyosiform erythroderma", "congenital ichthyosis", "ichthyosis , congenital" ], "HP:0007484": [ "congenital ichthyosiform erythroderma", "congenital ichthyosis", "ichthyosis , congenital" ], "HP:0007432": [ "intermittent generalize erythematous papular rash", "intermittent generalized erythematous papular rash", "intermittent generalise erythematous papular rash", "intermittent generalised erythematous papular rash" ], "HP:0007434": [ "plaque - like facial hemangioma", "hemangioma , facial , plaque - like" ], "HP:0007435": [ "obsolete diffuse palmoplantar keratoderma", "diffuse palmoplantar hyperkeratosis", "diffuse palmoplantar keratoderma", "hyperkeratosis , diffuse palmoplantar" ], "HP:0007436": [ "hair - nail ectodermal dysplasia" ], "HP:0007437": [ "multiple cutaneous leiomyoma", "multiple cutaneous leiomyomas" ], "HP:0007438": [ "mottle pigmentation of the trunk and proximal extremity", "mottled pigmentation of the trunk and proximal extremities" ], "HP:0007439": [ "generalize keratosis follicularis", "generalized keratosis follicularis", "generalise keratosis follicularis", "generalised keratosis follicularis" ], "HP:0007440": [ "generalize hyperpigmentation", "generalized hyperpigmentation", "generalise hyperpigmentation", "generalised hyperpigmentation" ], "HP:0007540": [ "generalize hyperpigmentation", "generalized hyperpigmentation", "generalise hyperpigmentation", "generalised hyperpigmentation" ], "HP:0007441": [ "hyperpigmented / hypopigmented macule", "hyperpigmented / hypopigmented macules" ], "HP:0007443": [ "partial albinism", "congenital partial albinism on face , trunk , or limb", "congenital partial albinism on face , trunk , or limbs", "congenital partial leucoderma", "partial absent skin pigmentation" ], "HP:0001044": [ "partial albinism", "congenital partial albinism on face , trunk , or limb", "congenital partial albinism on face , trunk , or limbs", "congenital partial leucoderma", "partial absent skin pigmentation" ], "HP:0007446": [ "palmoplantar blistering" ], "HP:0007447": [ "obsolete diffuse palmoplantar keratoderma", "diffuse palmoplantar hyperkeratosis", "diffuse palmoplantar keratoderma", "hyperkeratosis , diffuse palmoplantar" ], "HP:0007448": [ "hyperkeratosis over edematous area", "hyperkeratosis over edematous areas" ], "HP:0007449": [ "confetti - like hypopigmented macule", "confetti - like hypopigmented macules" ], "HP:0007450": [ "increase groin pigmentation with raindrop depigmentation", "increased groin pigmentation with raindrop depigmentation" ], "HP:0007451": [ "ipsilateral lack of facial sweating" ], "HP:0007452": [ "midface capillary hemangioma", "midfacial capillary hemangioma" ], "HP:0007611": [ "midface capillary hemangioma", "midfacial capillary hemangioma" ], "HP:0007453": [ "flexural lichenification" ], "HP:0007455": [ "adermatoglyphia" ], "HP:0007456": [ "progressive reticulate hyperpigmentation" ], "HP:0007457": [ "prominent vein on trunk", "prominent veins on trunk" ], "HP:0007458": [ "focal hyperextensible skin" ], "HP:0007459": [ "generalize anhidrosis", "generalized anhidrosis", "generalise anhidrosis", "generalised anhidrosis", "generalise anhydrosis", "generalised anhydrosis", "generalise inability to sweat", "generalised inability to sweat", "generalize anhydrosis", "generalized anhydrosis", "generalize inability to sweat", "generalized inability to sweat" ], "HP:0007460": [ "autoamputation of digit", "autoamputation of digits" ], "HP:0007461": [ "hemangiomatosis" ], "HP:0007462": [ "bitot spot of the conjunctiva", "bitot spots of the conjunctiva", "bitot 's spot", "bitot 's spots" ], "HP:0007464": [ "sparse facial hair" ], "HP:0007465": [ "honeycomb palmoplantar hyperkeratosis" ], "HP:0007466": [ "midfrontal capillary hemangioma" ], "HP:0007468": [ "perifollicular hyperkeratosis" ], "HP:0007469": [ "palmoplantar cutis gyrata", "cutis gyrata of palm and sol", "cutis gyrata of palms and soles" ], "HP:0007470": [ "periarticular subcutaneous nodule", "periarticular subcutaneous nodules" ], "HP:0007471": [ "axillary and groin hyperpigmentation and hypopigmentation" ], "HP:0007473": [ "crust erythematous dermatitis", "crusting erythematous dermatitis" ], "HP:0007475": [ "congenital bullous ichthyosiform erythroderma", "bullous congenital ichthyosiform erythroderma", "epidermolytic hyperkeratosis" ], "HP:0007476": [ "anhidrotic ectodermal dysplasia" ], "HP:0007477": [ "abnormal dermatoglyphic", "abnormal dermatoglyphics", "abnormal fingerprint", "abnormal fingerprints", "dermatoglyphic abnormality", "dermatoglyphic abnormalities" ], "HP:0007422": [ "abnormal dermatoglyphic", "abnormal dermatoglyphics", "abnormal fingerprint", "abnormal fingerprints", "dermatoglyphic abnormality", "dermatoglyphic abnormalities" ], "HP:0007479": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0001021": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0007388": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0007512": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0007619": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0007625": [ "congenital nonbullous ichthyosiform erythroderma", "collodion baby", "congenital lamellar ichthyosis", "congenital non - bullous ichthyosis", "ichthyosis lammellaris", "ichthyosis , congenital , nonblistering", "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosis" ], "HP:0007480": [ "decrease sweat due to autonomic dysfunction", "decreased sweating due to autonomic dysfunction" ], "HP:0007481": [ "hyperpigmented nevus", "hyperpigmented nevi" ], "HP:0007482": [ "generalize papillary lesion", "generalized papillary lesions", "generalise papillary lesion", "generalised papillary lesions" ], "HP:0007483": [ "depigmentation / hyperpigmentation of skin" ], "HP:0007485": [ "absence of subcutaneous fat", "absent fat below the skin", "general absence of subcutaneous fat", "lack of fatty tissue below the skin", "obsolete lack of subcutaneous fatty tissue" ], "HP:0007519": [ "absence of subcutaneous fat", "absent fat below the skin", "general absence of subcutaneous fat", "lack of fatty tissue below the skin", "obsolete lack of subcutaneous fatty tissue" ], "HP:0007486": [ "cavernous hemangioma of the face" ], "HP:0007488": [ "diffuse skin atrophy" ], "HP:0007489": [ "diffuse telangiectasia", "diffuse telangiectases", "telangiectases , random body distribution" ], "HP:0007405": [ "diffuse telangiectasia", "diffuse telangiectases", "telangiectases , random body distribution" ], "HP:0007490": [ "linear array of macular hyperkeratoses in flexural area", "linear arrays of macular hyperkeratoses in flexural areas" ], "HP:0007494": [ "discrete 2 to 5 - mm hyper - and hypopigmented macule", "discrete 2 to 5 - mm hyper - and hypopigmented macules" ], "HP:0007495": [ "prematurely age appearance", "prematurely aged appearance", "precociously senile appearance" ], "HP:0001599": [ "prematurely age appearance", "prematurely aged appearance", "precociously senile appearance" ], "HP:0007497": [ "focal friction - related palmoplantar hyperkeratosis", "hyperkeratosis , palmoplantar , focal friction - related" ], "HP:0007499": [ "recurrent staphylococcal infection", "recurrent staphylococcal infections" ], "HP:0007500": [ "decreased number of sweat gland", "decreased number of sweat glands", "decrease sweat gland", "decreased sweat glands", "decrease sweat pore", "decreased sweat pores" ], "HP:0007555": [ "decreased number of sweat gland", "decreased number of sweat glands", "decrease sweat gland", "decreased sweat glands", "decrease sweat pore", "decreased sweat pores" ], "HP:0007594": [ "decreased number of sweat gland", "decreased number of sweat glands", "decrease sweat gland", "decreased sweat glands", "decrease sweat pore", "decreased sweat pores" ], "HP:0007501": [ "streak of hyperkeratosis along each finger onto the palm", "streaks of hyperkeratosis along each finger onto the palm" ], "HP:0007502": [ "follicular hyperkeratosis", "hyperkeratosis follicularis" ], "HP:0007600": [ "follicular hyperkeratosis", "hyperkeratosis follicularis" ], "HP:0007503": [ "generalize ichthyosis", "generalized ichthyosis", "generalise ichthyosis", "generalised ichthyosis" ], "HP:0007504": [ "diffuse slow skin atrophy" ], "HP:0007505": [ "progressive hyperpigmentation" ], "HP:0007506": [ "congenital absence of skin of limb", "congenital absence of skin of limbs", "miss skin on limb since birth", "missing skin on limbs since birth" ], "HP:0007508": [ "punctate palmar hyperkeratosis" ], "HP:0007509": [ "patchy hypo - and hyperpigmentation", "patchy hypo - and hyper - pigmentation" ], "HP:0007487": [ "patchy hypo - and hyperpigmentation", "patchy hypo - and hyper - pigmentation" ], "HP:0007510": [ "focal dermal aplasia / hypoplasia" ], "HP:0007511": [ "mottle pigmentation of photoexposed area", "mottled pigmentation of photoexposed areas" ], "HP:0007513": [ "generalize hypopigmentation", "generalized hypopigmentation", "fair skin", "generalise hypopigmentation", "generalised hypopigmentation", "pale pigmentation" ], "HP:0000984": [ "generalize hypopigmentation", "generalized hypopigmentation", "fair skin", "generalise hypopigmentation", "generalised hypopigmentation", "pale pigmentation" ], "HP:0007419": [ "generalize hypopigmentation", "generalized hypopigmentation", "fair skin", "generalise hypopigmentation", "generalised hypopigmentation", "pale pigmentation" ], "HP:0007514": [ "edema of the dorsum of hand", "edema of the dorsum of hands", "edema of dorsum of hand", "edema of dorsum of hands", "oedema of dorsum of hand", "oedema of dorsum of hands", "oedema of the dorsum of hand", "oedema of the dorsum of hands" ], "HP:0007528": [ "edema of the dorsum of hand", "edema of the dorsum of hands", "edema of dorsum of hand", "edema of dorsum of hands", "oedema of dorsum of hand", "oedema of dorsum of hands", "oedema of the dorsum of hand", "oedema of the dorsum of hands" ], "HP:0007515": [ "hypoplastic pilosebaceous unit", "hypoplastic pilosebaceous units" ], "HP:0007516": [ "redundant skin on finger", "redundant skin on fingers", "extra skin on finger", "extra skin on fingers" ], "HP:0007517": [ "palmoplantar cutis laxa", "excessive wrinkle skin of palm and sol", "excessive wrinkled skin of palms and soles", "furrow palm and sol", "furrowed palms and soles", "increased wrinkle of palm and sol", "increased wrinkles of palms and soles", "wrinkle palm and sol", "wrinkled palms and soles", "wrinkled skin of hand and foot", "wrinkled skin of hands and feet" ], "HP:0001016": [ "palmoplantar cutis laxa", "excessive wrinkle skin of palm and sol", "excessive wrinkled skin of palms and soles", "furrow palm and sol", "furrowed palms and soles", "increased wrinkle of palm and sol", "increased wrinkles of palms and soles", "wrinkle palm and sol", "wrinkled palms and soles", "wrinkled skin of hand and foot", "wrinkled skin of hands and feet" ], "HP:0007521": [ "irregular hyperpigmentation of back" ], "HP:0007522": [ "increased number of skin fold", "increased number of skin folds" ], "HP:0007524": [ "atypical neurofibromatosis" ], "HP:0007525": [ "yellow subcutaneous tissue cover by thin , scaly skin", "yellow subcutaneous tissue covered by thin , scaly skin" ], "HP:0007526": [ "hypopigmented skin patch on arm", "hypopigmented skin patches on arms", "patchy loss of skin color on arm", "patchy loss of skin color on arms", "patchy loss of skin colour on arm", "patchy loss of skin colour on arms" ], "HP:0007529": [ "hidrotic ectodermal dysplasia" ], "HP:0007530": [ "punctate palmoplantar hyperkeratosis" ], "HP:0007534": [ "congenital posterior occipital alopecia" ], "HP:0007535": [ "hypopigmented streak", "hypopigmented streaks" ], "HP:0007536": [ "aplasia cutis congenita of midline scalp vertex" ], "HP:0007537": [ "severe photosensitivity", "severe sun sensitivity" ], "HP:0007541": [ "frontal cutaneous lipoma" ], "HP:0007542": [ "absent pigmentation of the ventral chest" ], "HP:0007543": [ "epidermal hyperkeratosis", "increased thickness of skin epidermis" ], "HP:0007544": [ "piebaldism" ], "HP:0007545": [ "congenital palmoplantar hyperkeratosis", "congenital palmoplantar keratoderma", "congenital palmoplantar keratodermia", "congenital palmoplantar keratosis", "obsolete congenital palmoplantar keratodermia" ], "HP:0007597": [ "congenital palmoplantar hyperkeratosis", "congenital palmoplantar keratoderma", "congenital palmoplantar keratodermia", "congenital palmoplantar keratosis", "obsolete congenital palmoplantar keratodermia" ], "HP:0007546": [ "linear hyperpigmentation" ], "HP:0007548": [ "palmoplantar keratosis with erythema and scale" ], "HP:0007549": [ "desquamation of skin soon after birth" ], "HP:0007550": [ "hypohidrosis or hyperhidrosis", "lack of sweating or excessive sweating" ], "HP:0007552": [ "abnormal subcutaneous fat tissue distribution", "abnormal fat tissue distribution below the skin" ], "HP:0007553": [ "congenital symmetrical palmoplantar keratosis" ], "HP:0007554": [ "confetti hypopigmentation pattern of low leg skin", "confetti hypopigmentation pattern of lower leg skin" ], "HP:0007556": [ "plantar hyperkeratosis", "plantar hyperkeratoses" ], "HP:0007382": [ "plantar hyperkeratosis", "plantar hyperkeratoses" ], "HP:0007445": [ "plantar hyperkeratosis", "plantar hyperkeratoses" ], "HP:0007559": [ "localize epidermolytic hyperkeratosis", "localized epidermolytic hyperkeratosis", "localise epidermolytic hyperkeratosis", "localised epidermolytic hyperkeratosis" ], "HP:0007560": [ "unusual dermatoglyphic", "unusual dermatoglyphics" ], "HP:0007561": [ "telangiectases in sun - expose and nonexposed skin", "telangiectases in sun - exposed and nonexposed skin" ], "HP:0007565": [ "multiple cafe - au - lait spot", "multiple cafe - au - lait spots", "multiple birthmark", "multiple birthmarks", "multiple flat light - brown mark on skin", "multiple flat light - brown marks on skin" ], "HP:0007416": [ "multiple cafe - au - lait spot", "multiple cafe - au - lait spots", "multiple birthmark", "multiple birthmarks", "multiple flat light - brown mark on skin", "multiple flat light - brown marks on skin" ], "HP:0007566": [ "index finger dermatoglyphic radial loop" ], "HP:0007569": [ "generalize seborrheic dermatitis", "generalized seborrheic dermatitis", "generalise seborrheic dermatitis", "generalised seborrheic dermatitis", "generalise seborrheic eczema", "generalised seborrheic eczema", "generalize seborrheic eczema", "generalized seborrheic eczema" ], "HP:0007570": [ "hyperkeratosis lenticularis perstans", "flegel disease" ], "HP:0007572": [ "hyperpigmented streak", "hyperpigmented streaks" ], "HP:0007573": [ "late onset atopic dermatitis", "late onset baby eczema" ], "HP:0007574": [ "generalize bronze hyperpigmentation", "generalized bronze hyperpigmentation", "bronze skin", "generalise bronze hyperpigmentation", "generalised bronze hyperpigmentation" ], "HP:0007576": [ "palmar neurofibroma", "palmar neurofibromas" ], "HP:0007581": [ "mediosternal , longitudinal streak of hypopigmentation" ], "HP:0007583": [ "telangiectasia macularis eruptiva perstans" ], "HP:0007585": [ "skin fragility with non - scarring blistering" ], "HP:0007586": [ "telangiectases produce 'marbled ' skin", "telangiectases producing 'marbled ' skin" ], "HP:0007587": [ "numerous pigment freckle", "numerous pigmented freckles" ], "HP:0007588": [ "reticular hyperpigmentation", "reticulate hyperpigmentation" ], "HP:0007579": [ "reticular hyperpigmentation", "reticulate hyperpigmentation" ], "HP:0007589": [ "aplasia cutis congenita on trunk or limb", "aplasia cutis congenita on trunk or limbs" ], "HP:0007590": [ "aplasia cutis congenita over posterior parietal area" ], "HP:0007592": [ "aplasia / hypoplastia of the eccrine sweat gland", "aplasia / hypoplastia of the eccrine sweat glands", "hypoplastic - absent eccrine sweat gland", "hypoplastic - absent eccrine sweat glands" ], "HP:0007595": [ "redundant skin in infancy", "excess skin in infancy" ], "HP:0007596": [ "painful subcutaneous lipoma", "painful subcutaneous lipomas", "painful noncancerous fat tissue tumor under the skin", "painful noncancerous fat tissue tumour under the skin" ], "HP:0007598": [ "bilateral single transverse palmar crease", "bilateral single transverse palmar creases" ], "HP:0007599": [ "generalize reticulate brown pigmentation", "generalized reticulate brown pigmentation", "generalise reticulate brown pigmentation", "generalised reticulate brown pigmentation" ], "HP:0007601": [ "midline facial capillary hemangioma" ], "HP:0007602": [ "complex palmar dermatoglyphic pattern" ], "HP:0007603": [ "freckle in sun - expose area", "freckles in sun - exposed areas" ], "HP:0007605": [ "excessive wrinkling of palmar skin", "redundant , wrinkle skin of palm", "redundant , wrinkled skin of palms" ], "HP:0007531": [ "excessive wrinkling of palmar skin", "redundant , wrinkle skin of palm", "redundant , wrinkled skin of palms" ], "HP:0007606": [ "multiple cutaneous malignancy", "multiple cutaneous malignancies" ], "HP:0007607": [ "hypohidrotic ectodermal dysplasia" ], "HP:0007608": [ "abnormal palmar dermal ridge", "abnormal palmar dermal ridges" ], "HP:0007609": [ "hypoproteinemic edema", "hypoproteinemic oedema" ], "HP:0007610": [ "blotch pigmentation of the skin", "blotching pigmentation of the skin" ], "HP:0007613": [ "spinous keratoses of palm and sol", "spinous keratoses of palms and soles" ], "HP:0007616": [ "nevus flammeus nucha", "nevus flammeus nuchae", "angel 's kiss", "port - wine stain on neck", "salmon patch", "stork bite" ], "HP:0007617": [ "fine , reticulate skin pigmentation" ], "HP:0007618": [ "subcutaneous calcification", "skin calcification" ], "HP:0007620": [ "cutaneous leiomyoma", "cutaneous leiomyomas", "cutaneous leiomyomata" ], "HP:0007507": [ "cutaneous leiomyoma", "cutaneous leiomyomas", "cutaneous leiomyomata" ], "HP:0007621": [ "telangiectasia of extensor surface", "telangiectasia of extensor surfaces" ], "HP:0007623": [ "pigmentation anomaly of sun - expose skin", "pigmentation anomalies of sun - exposed skin", "abnormal pigmentation in sun - expose skin", "abnormal pigmentation in sun - exposed skin" ], "HP:0007626": [ "mandibular osteomyelitis", "low jaw bone infection", "lower jaw bone infection", "osteomyelitis , especially of the mandible" ], "HP:0005869": [ "mandibular osteomyelitis", "low jaw bone infection", "lower jaw bone infection", "osteomyelitis , especially of the mandible" ], "HP:0007627": [ "mandibular condyle aplasia", "absence of the condylar head of mandible", "absence of the condylar neck of mandible", "absence of the condylar process of mandible", "agenesis of condylar head of mandible", "agenesis of condylar neck of mandible", "agenesis of condylar process of mandible", "failure of development of condylar head of mandible", "failure of development of condylar neck of mandible", "failure of development of the condylar process of mandible", "underdevelopment of condylar head of mandible", "underdevelopment of condylar neck of mandible", "underdevelopment of condylar process of mandible" ], "HP:0007628": [ "mandibular condyle hypoplasia", "decreased size of condylar process of mandible", "decreased size of mandibular condyle", "hypoplasia of condylar head of mandible", "hypoplasia of condylar neck of mandible", "hypoplasia of condylar process of mandible", "hypoplasia of mandibular condyle", "hypoplasia of subcondylar region of mandible", "hypotrophic condylar process of mandible", "hypotrophic mandibular condyle", "small condylar head of mandible", "small condylar neck of mandible", "small mandibular condyle" ], "HP:0007633": [ "bilateral microphthalmos", "abnormally small eyeball on both side", "abnormally small eyeball on both sides", "bilateral nanophthalmos", "decreased size of eyeball", "decreased size of eyeballs", "decreased size of globe of eye", "decreased size of globes of eyes", "microphthalmia , bilateral" ], "HP:0001143": [ "bilateral microphthalmos", "abnormally small eyeball on both side", "abnormally small eyeball on both sides", "bilateral nanophthalmos", "decreased size of eyeball", "decreased size of eyeballs", "decreased size of globe of eye", "decreased size of globes of eyes", "microphthalmia , bilateral" ], "HP:0001585": [ "bilateral microphthalmos", "abnormally small eyeball on both side", "abnormally small eyeball on both sides", "bilateral nanophthalmos", "decreased size of eyeball", "decreased size of eyeballs", "decreased size of globe of eye", "decreased size of globes of eyes", "microphthalmia , bilateral" ], "HP:0007634": [ "nonarteritic anterior ischemic optic neuropathy", "nonarteritic anterior ischaemic optic neuropathy" ], "HP:0007641": [ "dyschromatopsia", "color blindness", "colour blindness" ], "HP:0007642": [ "congenital stationary night blindness", "congenital night blindness", "night blindness since birth", "night blindness , congenital", "night blindness , congenital stationary", "night blindness , congenital stationary , complete", "night blindness , stationary", "static congenital hemeralopia" ], "HP:0007684": [ "congenital stationary night blindness", "congenital night blindness", "night blindness since birth", "night blindness , congenital", "night blindness , congenital stationary", "night blindness , congenital stationary , complete", "night blindness , stationary", "static congenital hemeralopia" ], "HP:0007861": [ "congenital stationary night blindness", "congenital night blindness", "night blindness since birth", "night blindness , congenital", "night blindness , congenital stationary", "night blindness , congenital stationary , complete", "night blindness , stationary", "static congenital hemeralopia" ], "HP:0007953": [ "congenital stationary night blindness", "congenital night blindness", "night blindness since birth", "night blindness , congenital", "night blindness , congenital stationary", "night blindness , congenital stationary , complete", "night blindness , stationary", "static congenital hemeralopia" ], "HP:0007643": [ "peripheral tractional retinal detachment", "peripheral traction retinal detachment", "tractional retinal detachment at the periphery of the retina" ], "HP:0007646": [ "absent low eyelash", "absent lower eyelashes", "agenesis of low eyelash", "agenesis of lower eyelashes", "aplasia of low eyelash", "aplasia of lower eyelashes", "atrichia of low eyelash", "atrichia of lower eyelashes", "failure of development of low eyelash", "failure of development of lower eyelashes" ], "HP:0007647": [ "congenital extraocular muscle anomaly" ], "HP:0007648": [ "punctate cataract", "punctate lenticular opacity", "punctate lenticular opacities" ], "HP:0007649": [ "congenital hypertrophy of retinal pigment epithelium" ], "HP:0007650": [ "progressive ophthalmoplegia" ], "HP:0007651": [ "ectropion of low eyelid", "ectropion of lower eyelids", "evert low eyelid", "everted lower eyelids", "low eyelid fold out", "lower eyelid folded out", "low eyelid turn out", "lower eyelid turned out" ], "HP:0007654": [ "obsolete retinal striation", "hypermyelinated retinal nerve fiber", "hypermyelinated retinal nerve fibers", "hypermyelinated retinal nerve fibre", "hypermyelinated retinal nerve fibres", "retinal striation" ], "HP:0007655": [ "eversion of lateral third of low eyelid", "eversion of lateral third of lower eyelids" ], "HP:0007656": [ "lacrimal gland aplasia", "absent tear gland" ], "HP:0007657": [ "diffuse nuclear cataract" ], "HP:0007658": [ "large hyperpigmented retinal spot", "large hyperpigmented retinal spots" ], "HP:0007659": [ "obsolete decrease retinal pigmentation with dispersion", "obsolete decreased retinal pigmentation with dispersion" ], "HP:0007661": [ "abnormality of chorioretinal pigmentation" ], "HP:0007663": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0001091": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0007693": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0007739": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0007969": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0008008": [ "reduce visual acuity", "reduced visual acuity", "decreased central vision", "decreased clarity of vision", "decrease visual acuity", "decreased visual acuity", "poor visual acuity", "obsolete mildly reduce visual acuity", "obsolete mildly reduced visual acuity", "obsolete progressive central visual loss" ], "HP:0007665": [ "curly eyelash", "curly eyelashes" ], "HP:0007667": [ "peripheral cystoid retinal degeneration", "cystic retinal degeneration", "peripheral cystoid degeneration" ], "HP:0007668": [ "impaired pursuit initiation and maintenance" ], "HP:0007670": [ "abnormal vestibulo - ocular reflex", "abnormal vestibuloocular reflex" ], "HP:0007675": [ "progressive night blindness" ], "HP:0007676": [ "hypoplasia of the iris", "hypoplastic iris", "iris hypoplasia", "underdeveloped iris" ], "HP:0000638": [ "hypoplasia of the iris", "hypoplastic iris", "iris hypoplasia", "underdeveloped iris" ], "HP:0007724": [ "hypoplasia of the iris", "hypoplastic iris", "iris hypoplasia", "underdeveloped iris" ], "HP:0007998": [ "hypoplasia of the iris", "hypoplastic iris", "iris hypoplasia", "underdeveloped iris" ], "HP:0007677": [ "vitelliform - like macular lesion", "vitelliform - like macular lesions", "vitelliform macular dystrophy", "vitelliform macular lesion", "vitelliform macular lesions" ], "HP:0007878": [ "vitelliform - like macular lesion", "vitelliform - like macular lesions", "vitelliform macular dystrophy", "vitelliform macular lesion", "vitelliform macular lesions" ], "HP:0007678": [ "lacrimal duct stenosis", "narrowing of the tear duct", "nasolacrimal duct stenosis" ], "HP:0007669": [ "lacrimal duct stenosis", "narrowing of the tear duct", "nasolacrimal duct stenosis" ], "HP:0007680": [ "depigmented fundus" ], "HP:0007685": [ "peripheral retinal avascularization" ], "HP:0007686": [ "abnormal pupillary function" ], "HP:0007687": [ "unilateral ptosis", "dropping of one upper eyelid" ], "HP:0007688": [ "undetectable light - and dark - adapt electroretinogram", "undetectable light - and dark - adapted electroretinogram", "absent cone and rod function by electroretinogram", "absent cone and rod functions by electroretinogram", "absent rod - and cone - mediate response on erg", "absent rod - and cone - mediated responses on erg" ], "HP:0003230": [ "undetectable light - and dark - adapt electroretinogram", "undetectable light - and dark - adapted electroretinogram", "absent cone and rod function by electroretinogram", "absent cone and rod functions by electroretinogram", "absent rod - and cone - mediate response on erg", "absent rod - and cone - mediated responses on erg" ], "HP:0008280": [ "undetectable light - and dark - adapt electroretinogram", "undetectable light - and dark - adapted electroretinogram", "absent cone and rod function by electroretinogram", "absent cone and rod functions by electroretinogram", "absent rod - and cone - mediate response on erg", "absent rod - and cone - mediated responses on erg" ], "HP:0007690": [ "map - dot - fingerprint corneal dystrophy" ], "HP:0007691": [ "obsolete short curly eyelash", "obsolete short curly eyelashes" ], "HP:0007695": [ "abnormal pupillary light reflex" ], "HP:0007697": [ "hypoplasia of the low eyelid", "hypoplasia of the lower eyelids", "decreased size of low eyelid", "decreased size of lower eyelid", "hypotrophic low eyelid", "hypotrophic lower eyelid", "short low eyelid", "short lower eyelid", "small low eyelid", "small lower eyelid", "underdevelopment of low eyelid", "underdevelopment of lower eyelid" ], "HP:0007698": [ "obsolete retinal pigment epithelial atrophy", "retinal pigment epithelial atrophy" ], "HP:0007700": [ "ocular anterior segment dysgenesis", "anterior chamber cleavage defect", "anterior chamber cleavage disorder", "anterior chamber malformation", "anterior chamber mesodermal anomaly", "anterior chamber mesodermal anomalies", "anterior segment developmental abnormality", "anterior segment dysgenesis", "anterior segment mesencyhmal dysgenesis", "anterior segment ocular dysgenesis" ], "HP:0007696": [ "ocular anterior segment dysgenesis", "anterior chamber cleavage defect", "anterior chamber cleavage disorder", "anterior chamber malformation", "anterior chamber mesodermal anomaly", "anterior chamber mesodermal anomalies", "anterior segment developmental abnormality", "anterior segment dysgenesis", "anterior segment mesencyhmal dysgenesis", "anterior segment ocular dysgenesis" ], "HP:0007699": [ "ocular anterior segment dysgenesis", "anterior chamber cleavage defect", "anterior chamber cleavage disorder", "anterior chamber malformation", "anterior chamber mesodermal anomaly", "anterior chamber mesodermal anomalies", "anterior segment developmental abnormality", "anterior segment dysgenesis", "anterior segment mesencyhmal dysgenesis", "anterior segment ocular dysgenesis" ], "HP:0008040": [ "ocular anterior segment dysgenesis", "anterior chamber cleavage defect", "anterior chamber cleavage disorder", "anterior chamber malformation", "anterior chamber mesodermal anomaly", "anterior chamber mesodermal anomalies", "anterior segment developmental abnormality", "anterior segment dysgenesis", "anterior segment mesencyhmal dysgenesis", "anterior segment ocular dysgenesis" ], "HP:0007703": [ "abnormality of retinal pigmentation", "abnormal retinal pigmentation", "abnormality of retinal pigment epithelium", "abnormality of rpe", "abnormality of the retinal pigment epithelium", "retinal pigmentary anomaly", "obsolete abnormality of the retinal pigment epithelium" ], "HP:0007741": [ "abnormality of retinal pigmentation", "abnormal retinal pigmentation", "abnormality of retinal pigment epithelium", "abnormality of rpe", "abnormality of the retinal pigment epithelium", "retinal pigmentary anomaly", "obsolete abnormality of the retinal pigment epithelium" ], "HP:0007743": [ "abnormality of retinal pigmentation", "abnormal retinal pigmentation", "abnormality of retinal pigment epithelium", "abnormality of rpe", "abnormality of the retinal pigment epithelium", "retinal pigmentary anomaly", "obsolete abnormality of the retinal pigment epithelium" ], "HP:0008051": [ "abnormality of retinal pigmentation", "abnormal retinal pigmentation", "abnormality of retinal pigment epithelium", "abnormality of rpe", "abnormality of the retinal pigment epithelium", "retinal pigmentary anomaly", "obsolete abnormality of the retinal pigment epithelium" ], "HP:0007704": [ "paroxysmal involuntary eye movement", "paroxysmal involuntary eye movements", "abnormal eye movement , paroxysmal", "abnormal eye movements , paroxysmal" ], "HP:0007705": [ "corneal degeneration" ], "HP:0007707": [ "congenital aphakia", "lens agenesis" ], "HP:0007708": [ "absent inner eyelash", "absent inner eyelashes" ], "HP:0007709": [ "band - shaped corneal dystrophy" ], "HP:0007710": [ "peripheral vitreous opacity", "peripheral vitreous opacities" ], "HP:0007713": [ "obsolete juvenile zonular cataract", "obsolete juvenile zonular cataracts", "zonular cataract" ], "HP:0007715": [ "weak extraocular muscle", "weak extraocular muscles" ], "HP:0007716": [ "uveal melanoma", "intraocular melanoma" ], "HP:0007717": [ "chronic irritative conjunctivitis" ], "HP:0007720": [ "flat cornea", "cornea plana" ], "HP:0007721": [ "saccular conjunctival dilatation", "saccular conjunctival dilatations", "saccular conjunctival aneurysm", "saccular conjunctival aneurysms" ], "HP:0007722": [ "obsolete retinal pigment epithelial atrophy", "retinal pigment epithelial atrophy", "obsolete depigmented lesion of the retinal pigment epithelium", "obsolete depigmented lesions of the retinal pigment epithelium" ], "HP:0008017": [ "obsolete retinal pigment epithelial atrophy", "retinal pigment epithelial atrophy", "obsolete depigmented lesion of the retinal pigment epithelium", "obsolete depigmented lesions of the retinal pigment epithelium" ], "HP:0007727": [ "opacification of the corneal epithelium", "superficial corneal opacity", "superficial corneal opacities" ], "HP:0007728": [ "congenital miosis" ], "HP:0007730": [ "iris hypopigmentation", "light eye color", "light eye colour", "reduce iris pigmentation", "reduced iris pigmentation" ], "HP:0007731": [ "chorioretinal dysplasia" ], "HP:0007732": [ "lacrimal gland hypoplasia", "hypoplastic lacrimal gland", "underdeveloped tear gland" ], "HP:0007733": [ "laterally curve eyebrow", "laterally curved eyebrow" ], "HP:0007734": [ "enlarge lacrimal gland", "enlarged lacrimal glands", "enlarge tear gland", "enlarged tear gland" ], "HP:0007737": [ "bone spicule pigmentation of the retina", "bone corpuscle fundus pigmentation", "fundus with peripheral bony spicule", "fundus with peripheral bony spicules", "retinal 'bone corpuscle ' pigmentation", "retinal bone corpuscle pigmentation", "retinal pigment bone spicule", "retinal pigmented bone spicules" ], "HP:0007644": [ "bone spicule pigmentation of the retina", "bone corpuscle fundus pigmentation", "fundus with peripheral bony spicule", "fundus with peripheral bony spicules", "retinal 'bone corpuscle ' pigmentation", "retinal bone corpuscle pigmentation", "retinal pigment bone spicule", "retinal pigmented bone spicules" ], "HP:0007683": [ "bone spicule pigmentation of the retina", "bone corpuscle fundus pigmentation", "fundus with peripheral bony spicule", "fundus with peripheral bony spicules", "retinal 'bone corpuscle ' pigmentation", "retinal bone corpuscle pigmentation", "retinal pigment bone spicule", "retinal pigmented bone spicules" ], "HP:0007823": [ "bone spicule pigmentation of the retina", "bone corpuscle fundus pigmentation", "fundus with peripheral bony spicule", "fundus with peripheral bony spicules", "retinal 'bone corpuscle ' pigmentation", "retinal bone corpuscle pigmentation", "retinal pigment bone spicule", "retinal pigmented bone spicules" ], "HP:0007738": [ "uncontrolled eye movement", "uncontrolled eye movements" ], "HP:0007740": [ "long eyelash in irregular row", "long eyelashes in irregular rows" ], "HP:0007747": [ "monocular horizontal nystagmus" ], "HP:0007750": [ "hypoplasia of the fovea", "dull foveal reflex", "foveal hypoplasia" ], "HP:0007754": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007638": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007798": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007914": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007919": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007999": [ "macular dystrophy", "obsolete foveal dystrophy" ], "HP:0007755": [ "juvenile epithelial corneal dystrophy" ], "HP:0007757": [ "obsolete hypoplasia of choroid" ], "HP:0007759": [ "opacification of the corneal stroma", "cloudy cornea", "cloudy corneas", "corneal stromal opacity" ], "HP:0000515": [ "opacification of the corneal stroma", "cloudy cornea", "cloudy corneas", "corneal stromal opacity" ], "HP:0007662": [ "opacification of the corneal stroma", "cloudy cornea", "cloudy corneas", "corneal stromal opacity" ], "HP:0007896": [ "opacification of the corneal stroma", "cloudy cornea", "cloudy corneas", "corneal stromal opacity" ], "HP:0007966": [ "opacification of the corneal stroma", "cloudy cornea", "cloudy corneas", "corneal stromal opacity" ], "HP:0007760": [ "crystalline corneal dystrophy" ], "HP:0007761": [ "pericentral scotoma" ], "HP:0007763": [ "retinal telangiectasia" ], "HP:0007765": [ "deep anterior chamber" ], "HP:0007766": [ "optic disc hypoplasia", "hypoplastic optic disc", "hypoplastic optic discs", "hypoplastic optic disk", "hypoplastic optic disks" ], "HP:0007794": [ "optic disc hypoplasia", "hypoplastic optic disc", "hypoplastic optic discs", "hypoplastic optic disk", "hypoplastic optic disks" ], "HP:0007890": [ "optic disc hypoplasia", "hypoplastic optic disc", "hypoplastic optic discs", "hypoplastic optic disk", "hypoplastic optic disks" ], "HP:0007768": [ "central retinal vessel vascular tortuosity", "tortuosity of main retinal vessel", "tortuosity of main retinal vessels" ], "HP:0008015": [ "central retinal vessel vascular tortuosity", "tortuosity of main retinal vessel", "tortuosity of main retinal vessels" ], "HP:0007769": [ "peripheral retinal degeneration", "obsolete peripheral retinal cone degeneration" ], "HP:0007782": [ "peripheral retinal degeneration", "obsolete peripheral retinal cone degeneration" ], "HP:0007805": [ "peripheral retinal degeneration", "obsolete peripheral retinal cone degeneration" ], "HP:0007770": [ "hypoplasia of the retina", "retinal hypoplasia", "underdeveloped retina" ], "HP:0007772": [ "impaired smooth pursuit", "abnormal visual pursuit", "abnormality of visual tracking", "impairment of visual pursuit" ], "HP:0008029": [ "impaired smooth pursuit", "abnormal visual pursuit", "abnormality of visual tracking", "impairment of visual pursuit" ], "HP:0007773": [ "obsolete vitreoretinal degeneration", "vitreoretinopathy", "vitreoretinal abnormality", "vitreoretinal degeneration" ], "HP:0007774": [ "hypoplasia of the ciliary body" ], "HP:0007776": [ "sparse lower eyelash", "sparse lower eyelashes", "hypotrichosis of low eyelash", "hypotrichosis of lower eyelashes", "partial absence of low eyelash", "partial absence of lower eyelashes", "scanty lower eyelash", "scanty lower eyelashes", "thin low eyelash", "thin lower eyelashes" ], "HP:0007785": [ "sparse lower eyelash", "sparse lower eyelashes", "hypotrichosis of low eyelash", "hypotrichosis of lower eyelashes", "partial absence of low eyelash", "partial absence of lower eyelashes", "scanty lower eyelash", "scanty lower eyelashes", "thin low eyelash", "thin lower eyelashes" ], "HP:0007777": [ "chorioretinal scar" ], "HP:0007778": [ "posterior retinal neovascularization", "neovascularization of peripheral and posterior retina", "posterior retinal neovascularisation" ], "HP:0007779": [ "anterior segment of eye aplasia" ], "HP:0007780": [ "cortical pulverulent cataract", "cataract , cortical pulverulent", "cataracts , cortical pulverulent" ], "HP:0007783": [ "obsolete butterfly retinal pigment epithelial dystrophy" ], "HP:0007786": [ "obsolete lacunar retinal depigmentation", "chorioretinal lacuna", "chorioretinal lacunae", "lacunar retinal depigmentation" ], "HP:0007787": [ "posterior subcapsular cataract", "posterior subcapsular cataracts", "posterior subcapsular opacity of the lens", "posterior subcapsular opacities of the lens" ], "HP:0007666": [ "posterior subcapsular cataract", "posterior subcapsular cataracts", "posterior subcapsular opacity of the lens", "posterior subcapsular opacities of the lens" ], "HP:0007857": [ "posterior subcapsular cataract", "posterior subcapsular cataracts", "posterior subcapsular opacity of the lens", "posterior subcapsular opacities of the lens" ], "HP:0007791": [ "patchy atrophy of the retinal pigment epithelium" ], "HP:0007792": [ "microsaccadic pursuit" ], "HP:0007793": [ "granular macular appearance", "macular retinal pigment epithelial mottling" ], "HP:0007795": [ "anterior cortical cataract" ], "HP:0007797": [ "retinal vascular malformation" ], "HP:0007799": [ "conjunctival whitish salt - like deposit", "conjunctival whitish salt - like deposits" ], "HP:0007800": [ "increase axial length of the globe", "increased axial length of the globe", "globe elongate", "globe elongated", "increase axial globe length", "increased axial globe length", "increase front to back length of eyeball", "increased front to back length of eyeball" ], "HP:0007801": [ "obsolete fishnet retinal pigmentation" ], "HP:0007802": [ "granular corneal dystrophy" ], "HP:0007803": [ "monochromacy", "complete achromatopsia", "total colorblindness" ], "HP:0007954": [ "monochromacy", "complete achromatopsia", "total colorblindness" ], "HP:0007807": [ "optic nerve compression" ], "HP:0008495": [ "optic nerve compression" ], "HP:0007809": [ "punctate corneal dystrophy" ], "HP:0007810": [ "obsolete progressive bifocal chorioretinal atrophy" ], "HP:0007811": [ "horizontal pendular nystagmus" ], "HP:0200069": [ "horizontal pendular nystagmus" ], "HP:0007812": [ "herpetiform corneal ulceration", "dendritic corneal epithelial ulcer", "herpetiform corneal ulcer", "herpetiform corneal ulcers" ], "HP:0007813": [ "nongranulomatous uveitis" ], "HP:0007814": [ "retinal pigment epithelial mottling", "focal hypopigmentation of the retinal pigment epithelium", "retinal pigment epithelium irregularity", "rpe irregularity", "rpe mottling", "salt and pepper retinal pigmentation", "salt and pepper retinopathy" ], "HP:0001124": [ "retinal pigment epithelial mottling", "focal hypopigmentation of the retinal pigment epithelium", "retinal pigment epithelium irregularity", "rpe irregularity", "rpe mottling", "salt and pepper retinal pigmentation", "salt and pepper retinopathy" ], "HP:0007815": [ "abnormal distribution of retinal arteriole and venule", "abnormal distribution of retinal arterioles and venules" ], "HP:0007817": [ "horizontal supranuclear gaze palsy" ], "HP:0007818": [ "central heterochromia", "ring iris heterochromia" ], "HP:0007819": [ "presenile cataract", "presenile cataracts" ], "HP:0007848": [ "presenile cataract", "presenile cataracts" ], "HP:0007820": [ "lacrimal punctal atresia", "atretic lacrimal puncta", "atretic lacrimal punctum" ], "HP:0007822": [ "central retinal exudate" ], "HP:0007824": [ "total ophthalmoplegia", "complete ophthalmoplegia", "global paralysis of gaze", "total internal and external ophthalmoplegia" ], "HP:0007827": [ "nodular corneal dystrophy" ], "HP:0007829": [ "obsolete diffuse retinal cone degeneration" ], "HP:0007830": [ "adult - onset night blindness" ], "HP:0007831": [ "nonprogressive restrictive external ophthalmoplegia" ], "HP:0007682": [ "nonprogressive restrictive external ophthalmoplegia" ], "HP:0007832": [ "pigmentation of the sclera", "pigmentation of the outer white part of the eyeball" ], "HP:0007833": [ "anterior chamber synechiae" ], "HP:0007834": [ "progressive cataract", "cataract , progressive" ], "HP:0007828": [ "progressive cataract", "cataract , progressive" ], "HP:0007835": [ "s - shaped palpebral fissure", "s - shaped palpebral fissures", "s - shaped eye", "s - shaped eyes", "s - shape open between the eyelid", "s - shaped opening between the eyelids" ], "HP:0007836": [ "mosaic corneal dystrophy" ], "HP:0007838": [ "progressive ptosis", "progressive drooping of upper eyelid" ], "HP:0007840": [ "long upper eyelash", "long upper eyelashes", "ciliary trichomegaly of upper eyelash", "ciliary trichomegaly of upper eyelashes", "increased length of upper eyelash", "increased length of upper eyelashes" ], "HP:0007841": [ "amyloid deposition in the vitreous humor", "amyloid deposition in the vitreous humour", "vitreous amyloid deposit", "vitreous amyloid deposits" ], "HP:0007843": [ "attenuation of retinal blood vessel", "attenuation of retinal blood vessels", "narrowing of blood vessel in back of eye", "narrowing of blood vessels in back of eye" ], "HP:0007850": [ "retinal vascular proliferation" ], "HP:0007851": [ "obsolete temporal displacement of macula", "obsolete temporal displacement of maculae" ], "HP:0007854": [ "glaucomatous visual field defect" ], "HP:0007856": [ "punctate opacification of the cornea", "punctate corneal opacity", "punctate corneal opacities" ], "HP:0008004": [ "punctate opacification of the cornea", "punctate corneal opacity", "punctate corneal opacities" ], "HP:0007858": [ "obsolete lacunar retinal depigmentation", "chorioretinal lacuna", "chorioretinal lacunae", "lacunar retinal depigmentation" ], "HP:0007859": [ "congenital horizontal nystagmus", "nystagmus , congenital horizontal" ], "HP:0007862": [ "retinal calcification" ], "HP:0007866": [ "retinal infarction" ], "HP:0007867": [ "restrictive partial external ophthalmoplegia" ], "HP:0007872": [ "choroidal hemangioma" ], "HP:0007873": [ "abnormally prominent line of schwalbe", "prominent schwalbe line", "prominent schwalbe lines" ], "HP:0007940": [ "abnormally prominent line of schwalbe", "prominent schwalbe line", "prominent schwalbe lines" ], "HP:0007874": [ "almond - shaped palpebral fissure", "almond shape eye", "almond shaped eyes", "almond - shape open between the eyelid", "almond - shaped opening between the eyelids" ], "HP:0007875": [ "congenital blindness", "blindness present at birth", "congenital amaurosis" ], "HP:0007706": [ "congenital blindness", "blindness present at birth", "congenital amaurosis" ], "HP:0007876": [ "obsolete juvenile cortical cataract", "cortical cataract" ], "HP:0007879": [ "allergic conjunctivitis" ], "HP:0007880": [ "marginal corneal dystrophy" ], "HP:0007881": [ "central corneal dystrophy" ], "HP:0007885": [ "slow horizontal saccade", "slowed horizontal saccades" ], "HP:0007886": [ "absent extraocular muscle", "absent extraocular muscles", "absent ocular muscle", "absent ocular muscles", "miss eye muscle", "missing eye muscles" ], "HP:0007889": [ "iridescent posterior subcapsular cataract", "cataract , posterior , subcapsular , iridescent", "cataracts , posterior , subcapsular , iridescent" ], "HP:0007892": [ "hypoplasia of the lacrimal punctum", "hypoplasia of the lacrimal puncta", "hypoplastic lacrimal puncta" ], "HP:0007894": [ "obsolete hypopigmented fundus", "obsolete hypopigmented fundi", "hypopigmentation of the fundus", "decrease fundus pigmentation", "decreased fundus pigmentation", "fundus hypopigmentation" ], "HP:0001111": [ "hypopigmentation of the fundus", "decrease fundus pigmentation", "decreased fundus pigmentation", "fundus hypopigmentation" ], "HP:0007746": [ "obsolete hypopigmented fundus", "obsolete hypopigmented fundi", "hypopigmentation of the fundus", "decrease fundus pigmentation", "decreased fundus pigmentation", "fundus hypopigmentation" ], "HP:0007752": [ "obsolete hypopigmented fundus", "obsolete hypopigmented fundi", "hypopigmentation of the fundus", "decrease fundus pigmentation", "decreased fundus pigmentation", "fundus hypopigmentation" ], "HP:0007898": [ "exudative retinopathy" ], "HP:0007899": [ "retinal nonattachment", "congenital retinal non - attachment" ], "HP:0007849": [ "retinal nonattachment", "congenital retinal non - attachment" ], "HP:0007900": [ "hypoplastic lacrimal duct", "underdeveloped tear duct" ], "HP:0007901": [ "obsolete retinal malformation", "retinal dysplasia", "retinal dysgenesis" ], "HP:0007902": [ "vitreous hemorrhage", "vitreous haemorrhage" ], "HP:0007903": [ "paravenous chorioretinal atrophy" ], "HP:0007905": [ "abnormal iris vasculature", "abnormality of iris blood vessel", "abnormality of iris blood vessels" ], "HP:0007906": [ "ocular hypertension", "elevate intraocular pressure", "elevated intraocular pressure", "elevate iop", "elevated iop", "high eye pressure", "increase intraocular pressure", "increased intraocular pressure", "increase iop", "increased iop", "raise intraocular pressure", "raised intraocular pressure", "raise iop", "raised iop" ], "HP:0007911": [ "congenital bilateral ptosis", "congenital drooping of both upper eyelid", "congenital drooping of both upper eyelids", "ptosis , bilateral congenital", "ptosis , congenital bilateral" ], "HP:0007719": [ "congenital bilateral ptosis", "congenital drooping of both upper eyelid", "congenital drooping of both upper eyelids", "ptosis , bilateral congenital", "ptosis , congenital bilateral" ], "HP:0007955": [ "congenital bilateral ptosis", "congenital drooping of both upper eyelid", "congenital drooping of both upper eyelids", "ptosis , bilateral congenital", "ptosis , congenital bilateral" ], "HP:0007913": [ "reticular retinal dystrophy" ], "HP:0007915": [ "polymorphous posterior corneal dystrophy" ], "HP:0007916": [ "obsolete small anterior lens surface opacity", "obsolete small anterior lens surface opacities" ], "HP:0007917": [ "tractional retinal detachment" ], "HP:0007922": [ "obsolete retinal striation", "hypermyelinated retinal nerve fiber", "hypermyelinated retinal nerve fibers", "hypermyelinated retinal nerve fibre", "hypermyelinated retinal nerve fibres", "retinal striation" ], "HP:0007923": [ "obsolete foveal hyperplasia" ], "HP:0007924": [ "slow decrease in visual acuity", "decrease visual acuity , slowly progressive", "decreased visual acuity , slowly progressive", "slow decrease in sharpness of vision", "subacute deterioration of visual acuity" ], "HP:0007652": [ "slow decrease in visual acuity", "decrease visual acuity , slowly progressive", "decreased visual acuity , slowly progressive", "slow decrease in sharpness of vision", "subacute deterioration of visual acuity" ], "HP:0007925": [ "lacrimal duct aplasia", "absent tear duct" ], "HP:0007928": [ "abnormal flash visual evoke potential", "abnormal flash visual evoked potentials" ], "HP:0007929": [ "peripheral retinal detachment" ], "HP:0007932": [ "bilateral congenital mydriasis" ], "HP:0007933": [ "broad lateral eyebrow", "wide lateral eyebrow" ], "HP:0007935": [ "juvenile posterior subcapsular lenticular opacity", "juvenile posterior subcapsular lenticular opacities" ], "HP:0007936": [ "restrictive external ophthalmoplegia", "restrictive external ophthalmoplegia , bilateral", "restrictive ophthalmoplegia" ], "HP:0007846": [ "restrictive external ophthalmoplegia", "restrictive external ophthalmoplegia , bilateral", "restrictive ophthalmoplegia" ], "HP:0007959": [ "restrictive external ophthalmoplegia", "restrictive external ophthalmoplegia , bilateral", "restrictive ophthalmoplegia" ], "HP:0008025": [ "restrictive external ophthalmoplegia", "restrictive external ophthalmoplegia , bilateral", "restrictive ophthalmoplegia" ], "HP:0007937": [ "reticular pigmentary degeneration", "fishnet retinal pigmentation", "honeycomb retinal degeneration" ], "HP:0007939": [ "blue cone monochromacy", "blue cone monochromatism", "incomplete achromatopsia", "s - cone monochromacy" ], "HP:0007941": [ "limited extraocular movement", "limited extraocular movements" ], "HP:0007942": [ "internal ophthalmoplegia" ], "HP:0007943": [ "congenital stapes ankylosis" ], "HP:0007944": [ "intermittent microsaccadic pursuit", "intermittent microsaccadic pursuits" ], "HP:0007945": [ "obsolete choroidal degeneration", "chorioretinal degeneration" ], "HP:0007946": [ "unilateral narrow palpebral fissure", "narrow palpebral fissure , unilateral", "unequal size of open between the eyelid", "unequal size of opening between the eyelids" ], "HP:0007947": [ "pericentral retinitis pigmentosa" ], "HP:0007948": [ "dense posterior cortical cataract" ], "HP:0007949": [ "obsolete progressive macular scarring", "macular scar", "macular scarring" ], "HP:0007950": [ "peripapillary chorioretinal atrophy" ], "HP:0007957": [ "corneal opacity", "corneal cloud", "corneal clouding", "corneal opacities", "reduction of corneal clarity", "scar or clouding of the cornea of the eye", "scarring or clouding of the cornea of the eye" ], "HP:0007844": [ "corneal opacity", "corneal cloud", "corneal clouding", "corneal opacities", "reduction of corneal clarity", "scar or clouding of the cornea of the eye", "scarring or clouding of the cornea of the eye" ], "HP:0007883": [ "corneal opacity", "corneal cloud", "corneal clouding", "corneal opacities", "reduction of corneal clarity", "scar or clouding of the cornea of the eye", "scarring or clouding of the cornea of the eye" ], "HP:0008502": [ "corneal opacity", "corneal cloud", "corneal clouding", "corneal opacities", "reduction of corneal clarity", "scar or clouding of the cornea of the eye", "scarring or clouding of the cornea of the eye" ], "HP:0007958": [ "optic atrophy from cranial nerve compression" ], "HP:0007962": [ "speckle corneal dystrophy", "speckled corneal dystrophy" ], "HP:0007963": [ "pattern dystrophy of the retina" ], "HP:0007964": [ "degenerative vitreoretinopathy" ], "HP:0007965": [ "undetectable visual evoke potential", "undetectable visual evoked potentials", "absence of visual evoked potential", "absence of visual evoked potentials", "non - detectable vep", "undetectable vep" ], "HP:0007968": [ "remnant of the hyaloid vascular system", "remnants of the hyaloid vascular system", "congenital retinal septum", "persistent fetal vasculature", "persistent foetal vasculature", "persistent hyperplasia of primary vitreous", "persistent hyperplastic primary vitreous", "persistent hypertrophic primary vitreous", "persistent posterior fetal fibrovascular sheath of the lens", "persistent posterior foetal fibrovascular sheath of the lens", "persistent tunica vasculosa lentis" ], "HP:0007970": [ "congenital ptosis", "congenital droop upper eyelid", "congenital drooping upper eyelid" ], "HP:0007971": [ "lamellar cataract" ], "HP:0007973": [ "obsolete retinal malformation", "retinal dysplasia", "retinal dysgenesis" ], "HP:0008022": [ "obsolete retinal malformation", "retinal dysplasia", "retinal dysgenesis" ], "HP:0007975": [ "hypometric horizontal saccade", "hypometric horizontal saccades" ], "HP:0007976": [ "cerulean cataract", "cataract , congenital , cerulean", "cataracts , congenital , cerulean" ], "HP:0007979": [ "gaze - evoked horizontal nystagmus", "nystagmus , horizontal gaze - evoke", "nystagmus , horizontal gaze - evoked", "nystagmus , horizontal , gaze - evoke", "nystagmus , horizontal , gaze - evoked" ], "HP:0007639": [ "gaze - evoked horizontal nystagmus", "nystagmus , horizontal gaze - evoke", "nystagmus , horizontal gaze - evoked", "nystagmus , horizontal , gaze - evoke", "nystagmus , horizontal , gaze - evoked" ], "HP:0007980": [ "absent retinal pigment epithelium" ], "HP:0007984": [ "electronegative electroretinogram", "electronegative erg", "electroretinogram : reduce b - wave amplitude", "electroretinogram : reduced b - wave amplitude", "reduce amplitude of dark - adapted bright flash electroretinogram b - wave", "reduced amplitude of dark - adapted bright flash electroretinogram b - wave", "reduce electroretinogram rod b - wave", "reduced electroretinogram rod b - wave", "reduce erg amplitude of b - wave", "reduced erg amplitude of b - wave" ], "HP:0007985": [ "retinal arteriolar occlusion", "block retinal artery", "blocked retinal artery" ], "HP:0007986": [ "increase retinal vascularity", "increased retinal vascularity" ], "HP:0007987": [ "progressive visual field defect", "progressive visual field defects" ], "HP:0007988": [ "macular hypopigmentation" ], "HP:0007989": [ "intraretinal exudate" ], "HP:0007990": [ "hypoplastic iris stroma", "hypoplastic iris stoma", "iris stromal hypoplasia", "underdeveloped iris stroma" ], "HP:0007991": [ "hypoplastic iris stroma", "hypoplastic iris stoma", "iris stromal hypoplasia", "underdeveloped iris stroma" ], "HP:0008027": [ "hypoplastic iris stroma", "hypoplastic iris stoma", "iris stromal hypoplasia", "underdeveloped iris stroma" ], "HP:0007992": [ "lattice retinal degeneration" ], "HP:0007993": [ "malformed lacrimal duct", "malformed tear duct", "malformed tear ducts" ], "HP:0007994": [ "peripheral visual field loss", "kalnienk vision", "loss of peripheral vision", "tunnel vision" ], "HP:0008000": [ "decrease corneal reflex", "decreased corneal reflex", "decrease blink reflex", "decreased blink reflex", "reduce corneal reflex", "reduced corneal reflex" ], "HP:0008001": [ "foveal hyperpigmentation" ], "HP:0008002": [ "abnormality of macular pigmentation", "macular pigmentary change", "macular pigmentary changes" ], "HP:0008003": [ "jerky ocular pursuit movement", "jerky ocular pursuit movements", "jerky smooth pursuit" ], "HP:0007897": [ "jerky ocular pursuit movement", "jerky ocular pursuit movements", "jerky smooth pursuit" ], "HP:0008005": [ "congenital corneal dystrophy" ], "HP:0008007": [ "primary congenital glaucoma" ], "HP:0008009": [ "three row of eyelash", "three rows of eyelashes", "triple row of eyelash", "triple row of eyelashes" ], "HP:0008011": [ "peripheral opacification of the cornea", "peripheral corneal opacity" ], "HP:0008014": [ "central fundal arteriolar microaneurysms" ], "HP:0008019": [ "superior lens subluxation", "superior subluxate lens", "superior subluxated lens" ], "HP:0008020": [ "cone dystrophy", "progressive cone degeneration", "progressive cone dystrophy" ], "HP:0007789": [ "cone dystrophy", "progressive cone degeneration", "progressive cone dystrophy" ], "HP:0008024": [ "obsolete congenital nuclear cataract", "nuclear cataract", "yellowish cloudy center of lens", "yellowish cloudy centre of lens" ], "HP:0008026": [ "horizontal opticokinetic nystagmus" ], "HP:0008028": [ "cystoid macular degeneration", "cystic macular degeneration" ], "HP:0007673": [ "cystoid macular degeneration", "cystic macular degeneration" ], "HP:0008030": [ "retinal arteritis" ], "HP:0008031": [ "posterior y - sutural cataract", "posterior y - sutural cataracts" ], "HP:0008034": [ "abnormal iris pigmentation" ], "HP:0008035": [ "retinitis pigmentosa inversa", "central retinitis pigmentosa" ], "HP:0008506": [ "retinitis pigmentosa inversa", "central retinitis pigmentosa" ], "HP:0008037": [ "absent anterior chamber of the eye" ], "HP:0008038": [ "aplastic / hypoplastic lacrimal gland", "aplastic / hypoplastic lacrimal glands", "absent / underdevelop lacrimal gland", "absent / underdeveloped lacrimal glands", "absent / underdevelop tear gland", "absent / underdeveloped tear glands" ], "HP:0008039": [ "subepithelial corneal opacity", "subepithelial corneal opacities" ], "HP:0008041": [ "late onset congenital glaucoma" ], "HP:0008043": [ "retinal arteriolar constriction", "constrict retinal arteriole", "constricted retinal arterioles", "narrow retinal arteriole", "narrow retinal arterioles", "retinal arteriolar narrowing" ], "HP:0007952": [ "retinal arteriolar constriction", "constrict retinal arteriole", "constricted retinal arterioles", "narrow retinal arteriole", "narrow retinal arterioles", "retinal arteriolar narrowing" ], "HP:0008510": [ "retinal arteriolar constriction", "constrict retinal arteriole", "constricted retinal arterioles", "narrow retinal arteriole", "narrow retinal arterioles", "retinal arteriolar narrowing" ], "HP:0008045": [ "enlarge flash visual evoke potential", "enlarged flash visual evoked potentials", "high flash visual evoke potential", "high flash visual evoked potentials" ], "HP:0008046": [ "abnormal retinal vascular morphology", "abnormality of retina blood vessel", "abnormality of retina blood vessels", "abnormality of the retinal vasculature" ], "HP:0008047": [ "abnormality of the vasculature of the eye", "abnormality of eye blood vessel", "abnormality of eye blood vessels" ], "HP:0008048": [ "abnormality of the line of schwalbe" ], "HP:0008049": [ "abnormality of the extraocular muscle", "abnormality of the extraocular muscles" ], "HP:0008050": [ "abnormality of the palpebral fissure", "abnormality of the palpebral fissures", "abnormality of the opening between the eyelid", "abnormality of the opening between the eyelids", "deformity of the palpebral fissure", "deformity of the palpebral fissures", "malformation of the palpebral fissure", "malformation of the palpebral fissures" ], "HP:0008052": [ "retinal fold", "retinal folds" ], "HP:0008053": [ "aplasia / hypoplasia of the iris", "absent / small iris", "absent / underdevelop iris", "absent / underdeveloped iris" ], "HP:0008054": [ "abnormal morphology of the conjunctival vasculature", "abnormal morphology of the conjunctiva vasculature", "abnormal vasculature of the conjunctiva morphology", "abnormality of the vasculature of the conjunctiva" ], "HP:0008055": [ "aplasia / hypoplasia affect the uvea", "aplasia / hypoplasia affecting the uvea", "absent / underdevelop uvea", "absent / underdeveloped uvea" ], "HP:0008056": [ "aplasia / hypoplasia affect the eye", "aplasia / hypoplasia affecting the eye", "absent / small eye", "absent / underdevelop eye", "absent / underdeveloped eye" ], "HP:0008057": [ "aplasia / hypoplasia affect the fundus", "aplasia / hypoplasia affecting the fundus", "absent / small fundus" ], "HP:0008058": [ "aplasia / hypoplasia of the optic nerve", "absent / small optic nerve", "absent / underdevelop optic nerve", "absent / underdeveloped optic nerve" ], "HP:0008059": [ "aplasia / hypoplasia of the macula", "absent / underdevelop macula", "absent / underdeveloped macula" ], "HP:0008060": [ "aplasia / hypoplasia of the fovea", "absent / underdevelop fovea", "absent / underdeveloped fovea" ], "HP:0008061": [ "aplasia / hypoplasia of the retina", "absent / small retina", "absent / underdevelop retina", "absent / underdeveloped retina" ], "HP:0008062": [ "aplasia / hypoplasia affect the anterior segment of the eye", "aplasia / hypoplasia affecting the anterior segment of the eye" ], "HP:0008063": [ "aplasia / hypoplasia of the lens", "absent / small lens", "absent / underdevelop lens", "absent / underdeveloped lens" ], "HP:0008064": [ "ichthyosis", "hypertrophic ichthyosis", "ichthyosiform abnormality of the skin", "ichthyotic skin" ], "HP:0000955": [ "ichthyosis", "hypertrophic ichthyosis", "ichthyosiform abnormality of the skin", "ichthyotic skin" ], "HP:0007547": [ "ichthyosis", "hypertrophic ichthyosis", "ichthyosiform abnormality of the skin", "ichthyotic skin" ], "HP:0008065": [ "aplasia / hypoplasia of the skin", "absent / small skin", "absent / underdevelop skin", "absent / underdeveloped skin" ], "HP:0008066": [ "abnormal blistering of the skin", "blister", "blistering , generalise", "blistering , generalised", "blistering , generalize", "blistering , generalized", "blisters", "skin blister", "skin blisters", "skin bulla", "skin bullae" ], "HP:0007467": [ "abnormal blistering of the skin", "blister", "blistering , generalise", "blistering , generalised", "blistering , generalize", "blistering , generalized", "blisters", "skin blister", "skin blisters", "skin bulla", "skin bullae" ], "HP:0007496": [ "abnormal blistering of the skin", "blister", "blistering , generalise", "blistering , generalised", "blistering , generalize", "blistering , generalized", "blisters", "skin blister", "skin blisters", "skin bulla", "skin bullae" ], "HP:0200038": [ "abnormal blistering of the skin", "blister", "blistering , generalise", "blistering , generalised", "blistering , generalize", "blistering , generalized", "blisters", "skin blister", "skin blisters", "skin bulla", "skin bullae" ], "HP:0008067": [ "abnormally lax or hyperextensible skin", "abnormally loose or hyperelastic skin", "abnormally loose or stretchable skin" ], "HP:0008069": [ "neoplasm of the skin", "dermatological tumor", "dermatological tumors", "dermatological tumour", "dermatological tumours", "neoplasia of the skin", "skin cancer", "skin cancer ( non - melanoma )", "skin tumor", "skin tumors", "skin tumour", "skin tumours", "tumor of the skin", "tumour of the skin" ], "HP:0008070": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0002237": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0002291": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0002551": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0004522": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0004525": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0004538": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0004874": [ "obsolete hypotrichosis", "sparse hair", "decrease hair growth", "decreased hair growth", "decrease hair growth on body", "decreased hair growth on body", "hypotrichosis", "mark hypotrichosis", "marked hypotrichosis", "sparse hair since birth", "thin , sparse hair" ], "HP:0008071": [ "maternal hypertension" ], "HP:0008072": [ "maternal virilization in pregnancy" ], "HP:0008073": [ "low maternal serum estriol" ], "HP:0008074": [ "metatarsal periosteal thicken", "metatarsal periosteal thickening" ], "HP:0008075": [ "progressive pe cavus", "progressive pes cavus" ], "HP:0008076": [ "osteoporotic tarsal", "osteoporotic tarsals" ], "HP:0008078": [ "thin metatarsal cortex", "thin metatarsal cortices" ], "HP:0008079": [ "absent fifth metatarsal", "absent 5th long bone of foot", "absent 5th metatarsal", "absent 5th metatarsals", "aplasia of the fifth metatarsal bone" ], "HP:0010670": [ "absent fifth metatarsal", "absent 5th long bone of foot", "absent 5th metatarsal", "absent 5th metatarsals", "aplasia of the fifth metatarsal bone" ], "HP:0008080": [ "hallux varus", "medially deviate hallux", "medially deviated halluces" ], "HP:0008081": [ "pe valgus", "pes valgus", "valgus foot deformity" ], "HP:0008082": [ "medial deviation of the foot" ], "HP:0008083": [ "2nd - 5th toe middle phalangeal hypoplasia", "underdeveloped 2nd - 5th middle toe bone", "underdeveloped 2nd - 5th middle toe bones" ], "HP:0008087": [ "nonossified fifth metatarsal" ], "HP:0008089": [ "abnormality of the fifth metatarsal bone", "abnormality of the 5th long bone of foot" ], "HP:0008090": [ "ankylosis of foot small joint", "ankylosis of feet small joints" ], "HP:0008093": [ "short 4th toe", "short fourth toe" ], "HP:0008094": [ "widely space toe", "widely spaced toes" ], "HP:0008077": [ "widely space toe", "widely spaced toes" ], "HP:0008095": [ "osteolysis of talus", "osteolysis of tali" ], "HP:0008096": [ "medially deviate second toe", "medially deviated second toe" ], "HP:0008097": [ "partial fusion of tarsal", "partial fusion of tarsals" ], "HP:0008102": [ "expand metatarsal with widened medullary cavity", "expanded metatarsals with widened medullary cavities" ], "HP:0008103": [ "delay tarsal ossification", "delayed tarsal ossification", "delay ankle bone maturation", "delayed ankle bone maturation", "tarsal delay ossification", "tarsal delayed ossification" ], "HP:0008145": [ "delay tarsal ossification", "delayed tarsal ossification", "delay ankle bone maturation", "delayed ankle bone maturation", "tarsal delay ossification", "tarsal delayed ossification" ], "HP:0008107": [ "plantar crease between first and second toe", "plantar crease between first and second toes" ], "HP:0008108": [ "advanced tarsal ossification", "accelerate ankle bone maturation", "accelerated ankle bone maturation", "precociously ossify tarsal bone", "precociously ossified tarsal bones" ], "HP:0008137": [ "advanced tarsal ossification", "accelerate ankle bone maturation", "accelerated ankle bone maturation", "precociously ossify tarsal bone", "precociously ossified tarsal bones" ], "HP:0008110": [ "equinovarus deformity" ], "HP:0008111": [ "broad distal hallux", "broad distal big toe" ], "HP:0008112": [ "plantar flexion contracture", "plantar flexion contractures" ], "HP:0008113": [ "multiple plantar crease", "multiple plantar creases" ], "HP:0008114": [ "metatarsal diaphyseal endosteal sclerosis" ], "HP:0008115": [ "clinodactyly of the 3rd toe", "3rd toe clinodactyly", "curvature of 3rd toe" ], "HP:0008116": [ "flexion limitation of toe", "flexion limitation of toes" ], "HP:0008117": [ "shortening of the talar neck" ], "HP:0008119": [ "deform tarsal bone", "deformed tarsal bones", "deform ankle bone", "deformed ankle bones" ], "HP:0008122": [ "calcaneonavicular fusion" ], "HP:0008124": [ "talipes calcaneovarus" ], "HP:0008125": [ "second metatarsal posteriorly place", "second metatarsal posteriorly placed" ], "HP:0008127": [ "bipartite calcaneus", "delay coalescence of bipartite calcaneus", "delayed coalescence of bipartite calcanei", "delay coalescence of calcaneal ossification center", "delayed coalescence of calcaneal ossification centers", "delay coalescence of calcaneal ossification centre", "delayed coalescence of calcaneal ossification centres", "delay fusion of bipartite calcaneus", "delayed fusion of bipartite calcanei", "double calcaneal ossification center", "double calcaneal ossification centre", "extra calcaneal ossification center", "extra calcaneal ossification centre" ], "HP:0008104": [ "bipartite calcaneus", "delay coalescence of bipartite calcaneus", "delayed coalescence of bipartite calcanei", "delay coalescence of calcaneal ossification center", "delayed coalescence of calcaneal ossification centers", "delay coalescence of calcaneal ossification centre", "delayed coalescence of calcaneal ossification centres", "delay fusion of bipartite calcaneus", "delayed fusion of bipartite calcanei", "double calcaneal ossification center", "double calcaneal ossification centre", "extra calcaneal ossification center", "extra calcaneal ossification centre" ], "HP:0008130": [ "bipartite calcaneus", "delay coalescence of bipartite calcaneus", "delayed coalescence of bipartite calcanei", "delay coalescence of calcaneal ossification center", "delayed coalescence of calcaneal ossification centers", "delay coalescence of calcaneal ossification centre", "delayed coalescence of calcaneal ossification centres", "delay fusion of bipartite calcaneus", "delayed fusion of bipartite calcanei", "double calcaneal ossification center", "double calcaneal ossification centre", "extra calcaneal ossification center", "extra calcaneal ossification centre" ], "HP:0008146": [ "bipartite calcaneus", "delay coalescence of bipartite calcaneus", "delayed coalescence of bipartite calcanei", "delay coalescence of calcaneal ossification center", "delayed coalescence of calcaneal ossification centers", "delay coalescence of calcaneal ossification centre", "delayed coalescence of calcaneal ossification centres", "delay fusion of bipartite calcaneus", "delayed fusion of bipartite calcanei", "double calcaneal ossification center", "double calcaneal ossification centre", "extra calcaneal ossification center", "extra calcaneal ossification centre" ], "HP:0008131": [ "tarsal stipple", "tarsal stippling", "punctate calcification of tarsal", "punctate calcifications of tarsals", "punctate tarsal calcification" ], "HP:0008132": [ "medial rotation of the medial malleolus" ], "HP:0008133": [ "distal tapering of metatarsal", "distal tapering of metatarsals" ], "HP:0008134": [ "irregular tarsal ossification", "irregular ankle bone maturation", "irregular tarsal center", "irregular tarsal centers", "irregular tarsal centre", "irregular tarsal centres" ], "HP:0008140": [ "irregular tarsal ossification", "irregular ankle bone maturation", "irregular tarsal center", "irregular tarsal centers", "irregular tarsal centre", "irregular tarsal centres" ], "HP:0008138": [ "equinus calcaneus", "equinus deformity of the calcaneus", "hindfoot equinus" ], "HP:0008141": [ "dislocation of toe", "dislocation of toes" ], "HP:0008142": [ "delay calcaneal ossification", "delayed calcaneal ossification", "delay heel bone maturation", "delayed heel bone maturation" ], "HP:0008144": [ "flattening of the talar dome" ], "HP:0008148": [ "impaired epinephrine - induced platelet aggregation" ], "HP:0008150": [ "elevate serum transaminase during infection", "elevated serum transaminases during infections" ], "HP:0008151": [ "prolong prothrombin time", "prolonged prothrombin time", "increase inr", "increased inr", "increase international normalised ratio", "increased international normalised ratio", "increase international normalized ratio", "increased international normalized ratio", "low factor ii activity", "prolong pt", "prolonged pt", "reduce factor ii activity", "reduced factor ii activity", "reduce prothrombin activity", "reduced prothrombin activity", "obsolete reduce prothrombin activity", "obsolete reduced prothrombin activity" ], "HP:0012201": [ "prolong prothrombin time", "prolonged prothrombin time", "increase inr", "increased inr", "increase international normalised ratio", "increased international normalised ratio", "increase international normalized ratio", "increased international normalized ratio", "low factor ii activity", "prolong pt", "prolonged pt", "reduce factor ii activity", "reduced factor ii activity", "reduce prothrombin activity", "reduced prothrombin activity", "obsolete reduce prothrombin activity", "obsolete reduced prothrombin activity" ], "HP:0008153": [ "periodic hypokalemic paresis", "hypokalemic periodic paresis" ], "HP:0008155": [ "mucopolysacchariduria" ], "HP:0003567": [ "mucopolysacchariduria" ], "HP:0008158": [ "hyperapobetalipoproteinemia" ], "HP:0008160": [ "3 - hydroxydicarboxylic aciduria" ], "HP:0008161": [ "absent leukocyte alkaline phosphatase", "absent leukocyte alp" ], "HP:0008162": [ "asymptomatic hyperammonemia", "hyperammonemia , asymptomatic" ], "HP:0008163": [ "decrease circulate cortisol level", "decreased circulating cortisol level", "decrease cortisol production", "decreased cortisol production", "glucocorticoid insufficiency", "hypocortisolemia", "hypocortisolism", "low blood cortisol level", "low to undetectable plasma cortisol", "plasma cortisol low" ], "HP:0000874": [ "decrease circulate cortisol level", "decreased circulating cortisol level", "decrease cortisol production", "decreased cortisol production", "glucocorticoid insufficiency", "hypocortisolemia", "hypocortisolism", "low blood cortisol level", "low to undetectable plasma cortisol", "plasma cortisol low" ], "HP:0003291": [ "decrease circulate cortisol level", "decreased circulating cortisol level", "decrease cortisol production", "decreased cortisol production", "glucocorticoid insufficiency", "hypocortisolemia", "hypocortisolism", "low blood cortisol level", "low to undetectable plasma cortisol", "plasma cortisol low" ], "HP:0004317": [ "decrease circulate cortisol level", "decreased circulating cortisol level", "decrease cortisol production", "decreased cortisol production", "glucocorticoid insufficiency", "hypocortisolemia", "hypocortisolism", "low blood cortisol level", "low to undetectable plasma cortisol", "plasma cortisol low" ], "HP:0008220": [ "decrease circulate cortisol level", "decreased circulating cortisol level", "decrease cortisol production", "decreased cortisol production", "glucocorticoid insufficiency", "hypocortisolemia", "hypocortisolism", "low blood cortisol level", "low to undetectable plasma cortisol", "plasma cortisol low" ], "HP:0008165": [ "decrease helper t cell proportion", "decreased helper t cell proportion", "decrease proportion circulate t - helper cell", "decreased proportion circulating t - helper cells", "reduce helper t cell proportion", "reduced helper t cell proportion" ], "HP:0008166": [ "decrease beta - galactosidase activity", "decreased beta - galactosidase activity", "beta - galactosidase deficiency in fibroblast and white blood cell", "beta - galactosidase deficiency in fibroblasts and white blood cells", "beta - galactosidase - 1 deficiency", "decrease beta galactosidase activity", "decreased beta galactosidase activity" ], "HP:0003644": [ "decrease beta - galactosidase activity", "decreased beta - galactosidase activity", "beta - galactosidase deficiency in fibroblast and white blood cell", "beta - galactosidase deficiency in fibroblasts and white blood cells", "beta - galactosidase - 1 deficiency", "decrease beta galactosidase activity", "decreased beta galactosidase activity" ], "HP:0008300": [ "decrease beta - galactosidase activity", "decreased beta - galactosidase activity", "beta - galactosidase deficiency in fibroblast and white blood cell", "beta - galactosidase deficiency in fibroblasts and white blood cells", "beta - galactosidase - 1 deficiency", "decrease beta galactosidase activity", "decreased beta galactosidase activity" ], "HP:0008167": [ "very long chain fatty acid accumulation" ], "HP:0008169": [ "reduce factor vii activity", "reduced factor vii activity", "factor vii deficiency" ], "HP:0008176": [ "neonatal unconjugated hyperbilirubinemia" ], "HP:0008178": [ "abnormal cartilage matrix" ], "HP:0008179": [ "decrease arden ratio of electrooculogram", "decreased arden ratio of electrooculogram", "decrease arden ratio of eog", "decreased arden ratio of eog" ], "HP:0008180": [ "mildly elevated creatine kinase", "mildly elevate cpk", "mildly elevated cpk", "mildly elevated creatine phosphokinase", "mildly elevate serum ck", "mildly elevated serum ck", "mildly elevate serum cpk", "mildly elevated serum cpk", "mildly elevate serum phospho - ck", "mildly elevated serum phospho - ck", "mildly increased creatine kinase", "mildly increase serum creatine kinase", "mildly increased serum creatine kinase", "moderately elevate serum ck", "moderately elevated serum ck", "moderately elevate serum cpk", "moderately elevated serum cpk", "moderately increased serum creatine kinase" ], "HP:0003211": [ "mildly elevated creatine kinase", "mildly elevate cpk", "mildly elevated cpk", "mildly elevated creatine phosphokinase", "mildly elevate serum ck", "mildly elevated serum ck", "mildly elevate serum cpk", "mildly elevated serum cpk", "mildly elevate serum phospho - ck", "mildly elevated serum phospho - ck", "mildly increased creatine kinase", "mildly increase serum creatine kinase", "mildly increased serum creatine kinase", "moderately elevate serum ck", "moderately elevated serum ck", "moderately elevate serum cpk", "moderately elevated serum cpk", "moderately increased serum creatine kinase" ], "HP:0008181": [ "abetalipoproteinemia" ], "HP:0008182": [ "adrenocortical hypoplasia", "small adrenal cortex" ], "HP:0008185": [ "precocious puberty in male", "precocious puberty in males", "early onset of puberty in male", "early onset of puberty in males", "male precocious puberty" ], "HP:0008186": [ "adrenocortical cytomegaly" ], "HP:0008187": [ "absence of secondary sex characteristic", "absence of secondary sex characteristics", "no secondary sexual characteristic at puberty", "no secondary sexual characteristics at puberty" ], "HP:0008674": [ "absence of secondary sex characteristic", "absence of secondary sex characteristics", "no secondary sexual characteristic at puberty", "no secondary sexual characteristics at puberty" ], "HP:0008188": [ "thyroid dysgenesis", "thyroid dysplasia" ], "HP:0008189": [ "insulin insensitivity" ], "HP:0008191": [ "thyroid agenesis", "athyroidal hypothyroidism" ], "HP:0008193": [ "primary gonadal insufficiency" ], "HP:0008194": [ "multiple pancreatic beta - cell adenoma", "multiple pancreatic beta - cell adenomas" ], "HP:0008197": [ "absence of pubertal development" ], "HP:0008198": [ "congenital hypoparathyroidism", "neonatal hypoparathyroidism" ], "HP:0008199": [ "congenital hypoparathyroidism", "neonatal hypoparathyroidism" ], "HP:0008201": [ "congenital hypoparathyroidism", "neonatal hypoparathyroidism" ], "HP:0008200": [ "primary hyperparathyroidism" ], "HP:0008254": [ "primary hyperparathyroidism" ], "HP:0008202": [ "reduce circulate prolactin concentration", "reduced circulating prolactin concentration", "prolactin deficiency" ], "HP:0008204": [ "precocious puberty with sertoli cell tumor", "precocious puberty with sertoli cell tumour" ], "HP:0008205": [ "insulin - dependent but ketosis - resistant diabetes" ], "HP:0008207": [ "primary adrenal insufficiency", "addison disease", "addison 's disease", "adrenocortical insufficiency", "primary adrenocortical failure" ], "HP:0000862": [ "primary adrenal insufficiency", "addison disease", "addison 's disease", "adrenocortical insufficiency", "primary adrenocortical failure" ], "HP:0008219": [ "primary adrenal insufficiency", "addison disease", "addison 's disease", "adrenocortical insufficiency", "primary adrenocortical failure" ], "HP:0008252": [ "primary adrenal insufficiency", "addison disease", "addison 's disease", "adrenocortical insufficiency", "primary adrenocortical failure" ], "HP:0008208": [ "parathyroid hyperplasia", "enlarge parathyroid gland", "enlarged parathyroid glands" ], "HP:0008209": [ "obsolete primary ovarian failure", "premature ovarian insufficiency", "climacterium praecox", "early menopause", "hypergonadotropic amenorrhea", "menopause praecox", "premature menopause", "premature ovarian failure", "primary ovarian insufficiency", "obsolete precocious menopause" ], "HP:0100805": [ "obsolete primary ovarian failure", "premature ovarian insufficiency", "climacterium praecox", "early menopause", "hypergonadotropic amenorrhea", "menopause praecox", "premature menopause", "premature ovarian failure", "primary ovarian insufficiency", "obsolete precocious menopause" ], "HP:0008211": [ "parathyroid agenesis", "parathyroid absence", "parathyroid aplasia" ], "HP:0008213": [ "gonadotropin deficiency", "pituitary gonadotropin deficiency" ], "HP:0008192": [ "gonadotropin deficiency", "pituitary gonadotropin deficiency" ], "HP:0008214": [ "decrease serum estradiol", "decreased serum estradiol" ], "HP:0008216": [ "adrenal gland dysgenesis", "adrenal gland dysplasia", "dysplastic adrenal gland", "dysplastic adrenal glands" ], "HP:0008221": [ "adrenal hyperplasia", "enlarge adrenal gland", "enlarged adrenal glands" ], "HP:0008222": [ "female infertility" ], "HP:0008223": [ "compensate hypothyroidism", "compensated hypothyroidism", "mild hypothyroidism", "subclinical hypothyroidism" ], "HP:0008225": [ "thyroid follicular hyperplasia" ], "HP:0008226": [ "androgen insufficiency", "hypoandrogenism" ], "HP:0008227": [ "pituitary resistance to thyroid hormone" ], "HP:0008229": [ "thyroid lymphangiectasia", "thyroid lymphangiectasis" ], "HP:0008235": [ "thyroid lymphangiectasia", "thyroid lymphangiectasis" ], "HP:0008230": [ "obsolete decrease testosterone in male", "obsolete decreased testosterone in males", "decrease serum testosterone concentration", "decreased serum testosterone concentration", "decrease serum testosterone level", "decreased serum testosterone level", "decreased serum testosterone levels", "decrease testosterone", "decreased testosterone", "low serum testosterone level", "low serum testosterone levels" ], "HP:0008231": [ "macronodular adrenal hyperplasia" ], "HP:0008232": [ "elevate circulate follicle stimulate hormone level", "elevated circulating follicle stimulating hormone level", "elevate follicle stimulate hormone", "elevated follicle stimulating hormone", "elevate follicle - stimulating hormone", "elevated follicle - stimulating hormone", "elevate fsh level", "elevated fsh level", "elevate plasma follicle stimulate hormone", "elevated plasma follicle stimulating hormone", "increase circulate follicle stimulate hormone level", "increased circulating follicle stimulating hormone level" ], "HP:0008324": [ "elevate circulate follicle stimulate hormone level", "elevated circulating follicle stimulating hormone level", "elevate follicle stimulate hormone", "elevated follicle stimulating hormone", "elevate follicle - stimulating hormone", "elevated follicle - stimulating hormone", "elevate fsh level", "elevated fsh level", "elevate plasma follicle stimulate hormone", "elevated plasma follicle stimulating hormone", "increase circulate follicle stimulate hormone level", "increased circulating follicle stimulating hormone level" ], "HP:0008233": [ "decrease circulate progesterone", "decreased circulating progesterone", "decrease serum progesterone", "decreased serum progesterone" ], "HP:0008236": [ "isosexual precocious puberty" ], "HP:0008237": [ "hypothalamic hypothyroidism", "tertiary hypothyroidism" ], "HP:0008239": [ "adrenal medullary hypoplasia", "small adrenal medulla" ], "HP:0008240": [ "secondary growth hormone deficiency" ], "HP:0008242": [ "pseudohypoaldosteronism" ], "HP:0008228": [ "pseudohypoaldosteronism" ], "HP:0008244": [ "congenital adrenal hypoplasia", "congenital adrenal gland hypoplasia" ], "HP:0008246": [ "congenital adrenal hypoplasia", "congenital adrenal gland hypoplasia" ], "HP:0008245": [ "pituitary hypothyroidism", "low thyroid gland function due to abnormal pituitary gland", "secondary hypothyroidism", "thyroid stimulate hormone deficiency", "thyroid stimulating hormone deficiency", "thyrotropin deficiency", "tsh deficient hypothyroidism" ], "HP:0008248": [ "pituitary hypothyroidism", "low thyroid gland function due to abnormal pituitary gland", "secondary hypothyroidism", "thyroid stimulate hormone deficiency", "thyroid stimulating hormone deficiency", "thyrotropin deficiency", "tsh deficient hypothyroidism" ], "HP:0008247": [ "euthyroid hyperthyroxinemia", "asymptomatic hyperthyroxinemia" ], "HP:0008212": [ "euthyroid hyperthyroxinemia", "asymptomatic hyperthyroxinemia" ], "HP:0008249": [ "thyroid hyperplasia", "large thyroid" ], "HP:0008250": [ "infantile hypercalcemia" ], "HP:0008251": [ "congenital goiter", "congenital goitre" ], "HP:0008255": [ "transient neonatal diabetes mellitus" ], "HP:0008256": [ "adrenocortical adenoma", "adrenocortical adenomas" ], "HP:0008196": [ "adrenocortical adenoma", "adrenocortical adenomas" ], "HP:0008258": [ "congenital adrenal hyperplasia" ], "HP:0008259": [ "adrenocorticotropin receptor defect", "acth receptor defect", "acthr defect", "adrenocorticotropic hormone - resistant adrenal insufficiency" ], "HP:0008261": [ "pancreatic islet cell adenoma" ], "HP:0008263": [ "thyroid defect in oxidation and organification of iodide" ], "HP:0008264": [ "neutrophil inclusion body", "neutrophil inclusion bodies" ], "HP:0001932": [ "neutrophil inclusion body", "neutrophil inclusion bodies" ], "HP:0008265": [ "mitochondrial lysine transport defect" ], "HP:0008269": [ "increase red cell hemolysis by shear stress", "increased red cell hemolysis by shear stress" ], "HP:0008271": [ "abnormal cartilage collagen", "abnormal hyaline collagen", "abnormal type ii collagen" ], "HP:0008272": [ "renal tubular lysine transport defect" ], "HP:0008273": [ "transient aminoaciduria" ], "HP:0008275": [ "abnormal light - adapt electroretinogram", "abnormal light - adapted electroretinogram", "abnormal cone - mediate electroretinogram", "abnormal cone - mediated electroretinogram" ], "HP:0008277": [ "abnormal blood zinc concentration", "abnormal zinc metabolism", "abnormality of zinc homeostasis" ], "HP:0008278": [ "cerebellar cortical atrophy", "cerebellar cortex degeneration" ], "HP:0008279": [ "transient hyperlipidemia" ], "HP:0008281": [ "acute hyperammonemia", "hyperammonemia , acute" ], "HP:0008282": [ "unconjugated hyperbilirubinemia" ], "HP:0008289": [ "unconjugated hyperbilirubinemia" ], "HP:0008283": [ "fast hyperinsulinemia", "fasting hyperinsulinemia", "high blood insulin level while fast", "high blood insulin levels while fasting" ], "HP:0008285": [ "transient hypophosphatemia" ], "HP:0008288": [ "nonketotic hyperglycinemia" ], "HP:0008290": [ "partial complement factor h deficiency" ], "HP:0008291": [ "pituitary corticotropic cell adenoma", "acth - produce pituitary adenoma", "acth - producing pituitary adenoma", "corticotropin - secrete pituitary adenoma", "corticotropin - secreting pituitary adenoma" ], "HP:0008293": [ "long - chain dicarboxylic aciduria" ], "HP:0008297": [ "transient hyperphenylalaninemia" ], "HP:0008301": [ "dermatan sulfate excretion in urine", "dermatan sulphate excretion in urine" ], "HP:0008303": [ "olivary degeneration" ], "HP:0008305": [ "exercise - induced myoglobinuria", "exercise - induced myoglobinuria in adult", "exercise - induced myoglobinuria in adults" ], "HP:0008319": [ "exercise - induced myoglobinuria", "exercise - induced myoglobinuria in adult", "exercise - induced myoglobinuria in adults" ], "HP:0008306": [ "abnormal iron deposition in mitochondrion", "abnormal iron deposition in mitochondria" ], "HP:0008309": [ "medium chain dicarboxylic aciduria" ], "HP:0008311": [ "spinal cord posterior column myelin loss", "spinal cord posterior columns myelin loss" ], "HP:0008314": [ "decreased activity of mitochondrial complex ii", "respiratory complex ii deficiency" ], "HP:0008315": [ "decrease plasma free carnitine", "decreased plasma free carnitine" ], "HP:0008316": [ "abnormal mitochondrion in muscle tissue", "abnormal mitochondria in muscle tissue", "abnormal mitochondrion in muscle", "abnormal mitochondria in muscle" ], "HP:0008318": [ "elevate leukocyte alkaline phosphatase", "elevated leukocyte alkaline phosphatase", "elevate leukocyte alp", "elevated leukocyte alp" ], "HP:0008320": [ "impaired collagen - induced platelet aggregation" ], "HP:0008321": [ "reduce factor x activity", "reduced factor x activity", "decrease factor x activity", "decreased factor x activity", "factor x deficiency" ], "HP:0008322": [ "abnormal mitochondrial morphology", "abnormal mitochondrion morphology" ], "HP:0008323": [ "abnormal light - and dark - adapt electroretinogram", "abnormal light - and dark - adapted electroretinogram", "abnormal rod and cone electroretinogram" ], "HP:0008326": [ "reduce circulate vitamin b6 level", "reduced circulating vitamin b6 level", "reduce vitamin b6 level", "reduced vitamin b6 levels", "vitamin b6 deficiency" ], "HP:0008327": [ "microscopic nephrocalcinosis" ], "HP:0008330": [ "reduce von willebrand factor activity", "reduced von willebrand factor activity", "decrease von willebrand factor activity", "decreased von willebrand factor activity" ], "HP:0008331": [ "elevate creatine kinase after exercise", "elevated creatine kinase after exercise", "elevate ck after exercise", "elevated ck after exercise", "elevate cpk after exercise", "elevated cpk after exercise", "elevate creatine phosphokinase after exercise", "elevated creatine phosphokinase after exercise", "elevate phospho - ck after exercise", "elevated phospho - ck after exercise", "elevate phospho - creatine kinase after exercise", "elevated phospho - creatine kinase after exercise", "increase ck after exercise", "increased ck after exercise", "increase creatine kinase after exercise", "increased creatine kinase after exercise", "increase creatine phosphokinase after exercise", "increased creatine phosphokinase after exercise", "increase phospho - ck after exercise", "increased phospho - ck after exercise", "increase phospho - creatine kinase after exercise", "increased phospho - creatine kinase after exercise" ], "HP:0008336": [ "complex organic aciduria" ], "HP:0008338": [ "partial functional complement factor d deficiency", "partial functional adipsin deficiency", "partial functional factor d deficiency" ], "HP:0008339": [ "diaminoaciduria" ], "HP:0008341": [ "distal renal tubular acidosis", "renal tubular acidosis , type i" ], "HP:0008344": [ "elevate plasma branch chain amino acid", "elevated plasma branched chain amino acids" ], "HP:0008345": [ "hypoplasia of the iris dilator muscle", "hypoplasia of the pupil dilator muscle", "underdeveloped iris dilator muscle", "underdeveloped pupil dilator muscle" ], "HP:0008346": [ "increase red cell sickling tendency", "increased red cell sickling tendency", "increase sickling of erythrocyte", "increased sickling of erythrocytes", "increase sickling of red cell", "increased sickling of red cells" ], "HP:0008347": [ "decreased activity of mitochondrial complex iv", "respiratory complex iv deficiency" ], "HP:0008348": [ "decrease circulate igg2 level", "decreased circulating igg2 level", "decrease igg2 level in blood", "decreased igg2 level in blood", "immunoglobulin igg2 deficiency", "reduce igg2 level", "reduced igg2 levels" ], "HP:0008310": [ "decrease circulate igg2 level", "decreased circulating igg2 level", "decrease igg2 level in blood", "decreased igg2 level in blood", "immunoglobulin igg2 deficiency", "reduce igg2 level", "reduced igg2 levels" ], "HP:0008352": [ "impaired platelet adhesion", "impaired thrombocyte adhesion", "impaired thrombocytes adhesion" ], "HP:0008353": [ "neutral hyperaminoaciduria" ], "HP:0008354": [ "factor x activation deficiency" ], "HP:0008357": [ "reduce factor xiii activity", "reduced factor xiii activity" ], "HP:0008358": [ "hyperprolinemia", "prolinemia" ], "HP:0008360": [ "neonatal hypoproteinemia" ], "HP:0008361": [ "corticospinal tract pallor" ], "HP:0008362": [ "aplasia / hypoplasia of the hallux", "absent / small big toe", "absent / underdevelop big toe", "absent / underdeveloped big toe", "aplastic / hypoplastic hallux", "aplastic / hypoplastic halluces" ], "HP:0004694": [ "aplasia / hypoplasia of the hallux", "absent / small big toe", "absent / underdevelop big toe", "absent / underdeveloped big toe", "aplastic / hypoplastic hallux", "aplastic / hypoplastic halluces" ], "HP:0008118": [ "aplasia / hypoplasia of the hallux", "absent / small big toe", "absent / underdevelop big toe", "absent / underdeveloped big toe", "aplastic / hypoplastic hallux", "aplastic / hypoplastic halluces" ], "HP:0008126": [ "aplasia / hypoplasia of the hallux", "absent / small big toe", "absent / underdevelop big toe", "absent / underdeveloped big toe", "aplastic / hypoplastic hallux", "aplastic / hypoplastic halluces" ], "HP:0008363": [ "aplasia / hypoplasia of the tarsal bone", "aplasia / hypoplasia of the tarsal bones", "absent / small ankle bone", "absent / underdevelop ankle bone", "absent / underdeveloped ankle bone", "aplastic / hypoplastic tarsal", "aplastic / hypoplastic tarsals" ], "HP:0008109": [ "aplasia / hypoplasia of the tarsal bone", "aplasia / hypoplasia of the tarsal bones", "absent / small ankle bone", "absent / underdevelop ankle bone", "absent / underdeveloped ankle bone", "aplastic / hypoplastic tarsal", "aplastic / hypoplastic tarsals" ], "HP:0008364": [ "abnormality of the calcaneus", "abnormal heel bone" ], "HP:0008365": [ "abnormal talus morphology", "abnormal large bone of ankle" ], "HP:0008366": [ "contracture involve the joint of the foot", "contractures involving the joints of the feet", "contracture of the foot joint", "contractures of the foot joints" ], "HP:0008368": [ "tarsal synostosis", "fuse ankle bone", "fused ankle bones", "synostosis involve tarsal bone", "synostosis involving tarsal bones", "synostosis of tarsal bone", "synostosis of tarsal bones", "tarsal bone fusion", "tarsal bone synostosis", "tarsal fusion", "tarsal fusions" ], "HP:0001851": [ "tarsal synostosis", "fuse ankle bone", "fused ankle bones", "synostosis involve tarsal bone", "synostosis involving tarsal bones", "synostosis of tarsal bone", "synostosis of tarsal bones", "tarsal bone fusion", "tarsal bone synostosis", "tarsal fusion", "tarsal fusions" ], "HP:0001957": [ "tarsal synostosis", "fuse ankle bone", "fused ankle bones", "synostosis involve tarsal bone", "synostosis involving tarsal bones", "synostosis of tarsal bone", "synostosis of tarsal bones", "tarsal bone fusion", "tarsal bone synostosis", "tarsal fusion", "tarsal fusions" ], "HP:0008092": [ "tarsal synostosis", "fuse ankle bone", "fused ankle bones", "synostosis involve tarsal bone", "synostosis involving tarsal bones", "synostosis of tarsal bone", "synostosis of tarsal bones", "tarsal bone fusion", "tarsal bone synostosis", "tarsal fusion", "tarsal fusions" ], "HP:0100330": [ "tarsal synostosis", "fuse ankle bone", "fused ankle bones", "synostosis involve tarsal bone", "synostosis involving tarsal bones", "synostosis of tarsal bone", "synostosis of tarsal bones", "tarsal bone fusion", "tarsal bone synostosis", "tarsal fusion", "tarsal fusions" ], "HP:0008369": [ "abnormal tarsal ossification", "abnormal maturation of ankle bone", "abnormal maturation of ankle bones", "abnormal ossification of tarsal bone", "abnormal ossification of tarsal bones", "hardening of ankle bone", "hardening of ankle bones" ], "HP:0008371": [ "abnormal metatarsal ossification", "abnormal maturation of long bone of foot", "abnormal ossification involve metatarsal bone", "abnormal ossification involving metatarsal bones" ], "HP:0008372": [ "abnormality of vitamin a metabolism" ], "HP:0008373": [ "puberty and gonadal disorder", "puberty and gonadal disorders" ], "HP:0000827": [ "puberty and gonadal disorder", "puberty and gonadal disorders" ], "HP:0008376": [ "nasal , dysarthic speech", "breathy speech" ], "HP:0008383": [ "slow - grow nail", "slow - growing nails" ], "HP:0008411": [ "slow - grow nail", "slow - growing nails" ], "HP:0008386": [ "aplasia / hypoplasia of the nail", "aplasia / hypoplasia of the nails", "absent / hypoplastic nail", "absent / hypoplastic nails", "absent / small nail", "absent / small nails", "absent / underdevelop nail", "absent / underdeveloped nails", "nail aplasia / hypoplasia" ], "HP:0008385": [ "aplasia / hypoplasia of the nail", "aplasia / hypoplasia of the nails", "absent / hypoplastic nail", "absent / hypoplastic nails", "absent / small nail", "absent / small nails", "absent / underdevelop nail", "absent / underdeveloped nails", "nail aplasia / hypoplasia" ], "HP:0008388": [ "abnormal toenail morphology", "abnormality of the toenail", "abnormality of the toenails" ], "HP:0008390": [ "recurrent loss of toenail and fingernail", "recurrent loss of toenails and fingernails", "recurrent shed of toenail and fingernail", "recurrent shedding of toenails and fingernails" ], "HP:0008391": [ "dystrophic fingernail", "dystrophic fingernails", "poor fingernail formation" ], "HP:0008392": [ "subungual hyperkeratosis", "thicken , discolor skin under nail", "thickened , discolored skin under nail", "thicken , discolour skin under nail", "thickened , discoloured skin under nail" ], "HP:0008393": [ "congenital curve nail of fourth toe", "congenital curved nail of fourth toe" ], "HP:0008394": [ "congenital onychodystrophy", "congenital malformed nail", "congenital malformed nails" ], "HP:0008396": [ "chronic monilial nail infection" ], "HP:0008398": [ "hypoplastic fifth fingernail", "underdeveloped fifth fingernail", "underdeveloped fingernail of little finger", "underdeveloped fingernail of pinkie finger", "underdeveloped fingernail of pinky finger" ], "HP:0200103": [ "hypoplastic fifth fingernail", "underdeveloped fifth fingernail", "underdeveloped fingernail of little finger", "underdeveloped fingernail of pinkie finger", "underdeveloped fingernail of pinky finger" ], "HP:0008399": [ "circumungual hyperkeratosis", "thick skin around nail", "thick skin around nails" ], "HP:0008400": [ "onycholysis of distal fingernail", "onycholysis of distal fingernails", "detachment of outermost fingernail", "detachment of outermost fingernails" ], "HP:0008401": [ "onychogryposis of toenail", "onychogryposis of toenails", "overgrowth and curving of toenail", "overgrowth and curving of toenails" ], "HP:0008395": [ "onychogryposis of toenail", "onychogryposis of toenails", "overgrowth and curving of toenail", "overgrowth and curving of toenails" ], "HP:0008405": [ "onychogryposis of toenail", "onychogryposis of toenails", "overgrowth and curving of toenail", "overgrowth and curving of toenails" ], "HP:0008402": [ "ridge fingernail", "ridged fingernail", "longitudinally groove fingernail", "longitudinally grooved fingernails", "ridged fingernails" ], "HP:0008404": [ "nail dystrophy", "dystrophic nail", "dystrophic nails", "onychodystrophy", "poor nail formation" ], "HP:0008382": [ "nail dystrophy", "dystrophic nail", "dystrophic nails", "onychodystrophy", "poor nail formation" ], "HP:0008397": [ "nail dystrophy", "dystrophic nail", "dystrophic nails", "onychodystrophy", "poor nail formation" ], "HP:0008408": [ "nail dystrophy", "dystrophic nail", "dystrophic nails", "onychodystrophy", "poor nail formation" ], "HP:0008407": [ "hyperconvex thumb nail", "hyperconvex thumb nails", "tightly curve thumb nail", "tightly curved thumb nail" ], "HP:0008410": [ "subungual hyperkeratotic fragment", "subungual hyperkeratotic fragments" ], "HP:0008414": [ "lumbar kyphosis in infancy", "hunch back in infancy", "hunched back in infancy", "round back in infancy" ], "HP:0008416": [ "six lumbar vertebra", "six lumbar vertebrae" ], "HP:0008417": [ "vertebral hypoplasia", "underdeveloped vertebra", "underdeveloped vertebrae" ], "HP:0008431": [ "vertebral hypoplasia", "underdeveloped vertebra", "underdeveloped vertebrae" ], "HP:0008418": [ "square - off platyspondyly", "squared - off platyspondyly" ], "HP:0008419": [ "intervertebral disc degeneration", "degeneration of intervertebral disc", "degeneration of intervertebral discs", "degeneration of intervertebral disk", "degeneration of intervertebral disks", "degenerative disc disease", "degenerative intervertebral disc", "degenerative intervertebral disk" ], "HP:0008420": [ "punctate vertebral calcification", "punctate vertebral calcifications" ], "HP:0008421": [ "tall lumbar vertebral body", "tall lumbar vertebral bodies" ], "HP:0008422": [ "vertebral wedging", "anterior wedge", "anterior wedging", "wedge - shape vertebra", "wedge - shaped vertebrae", "wedge vertebra", "wedged vertebrae" ], "HP:0008423": [ "spinal dysplasia" ], "HP:0008424": [ "hypoplastic 5th lumbar vertebra", "hypoplastic 5th lumbar vertebrae", "underdeveloped 5th lumbar vertebra", "underdeveloped 5th lumbar vertebrae" ], "HP:0008425": [ "cuboid - shaped thoracolumbar vertebral body", "cuboid - shaped thoracolumbar vertebral bodies" ], "HP:0008428": [ "vertebral clefting", "vertebral cleft", "vertebral clefts" ], "HP:0000942": [ "vertebral clefting", "vertebral cleft", "vertebral clefts" ], "HP:0008430": [ "anterior beaking of lumbar vertebra", "anterior beaking of lumbar vertebrae", "anterior tongue - like protrusion of lumbar vertebral body", "anterior tongue - like protrusion of lumbar vertebral bodies" ], "HP:0005664": [ "anterior beaking of lumbar vertebra", "anterior beaking of lumbar vertebrae", "anterior tongue - like protrusion of lumbar vertebral body", "anterior tongue - like protrusion of lumbar vertebral bodies" ], "HP:0008432": [ "anterior wedging of l1" ], "HP:0008433": [ "reverse usual vertebral column curve", "reversed usual vertebral column curves" ], "HP:0008434": [ "hypoplastic cervical vertebra", "hypoplastic cervical vertebrae", "cervical vertebra hypoplasia", "cervical vertebrae hypoplasia", "underdeveloped cervical vertebra", "underdeveloped cervical vertebrae" ], "HP:0008415": [ "hypoplastic cervical vertebra", "hypoplastic cervical vertebrae", "cervical vertebra hypoplasia", "cervical vertebrae hypoplasia", "underdeveloped cervical vertebra", "underdeveloped cervical vertebrae" ], "HP:0008435": [ "absent in utero ossification of vertebral body", "absent in utero ossification of vertebral bodies" ], "HP:0008436": [ "absent / hypoplastic coccyx", "absent / small tailbone", "absent / underdevelop tailbone", "absent / underdeveloped tailbone" ], "HP:0008437": [ "bifid thoracic vertebra", "bifid thoracic vertebrae" ], "HP:0008438": [ "vertebral arch anomaly", "vertebral arch abnormality", "vertebral arch abnormalities" ], "HP:0008439": [ "lumbar hemivertebrae" ], "HP:0008440": [ "c1 - c2 vertebral abnormality" ], "HP:0008441": [ "herniation of intervertebral nucleus", "herniation of intervertebral nuclei", "herniated disc", "herniated disk", "herniated intervertebral nucleus", "herniated intervertebral nuclei" ], "HP:0008442": [ "vertebral hyperostosis" ], "HP:0008443": [ "spinal deformity", "spinal deformities" ], "HP:0008444": [ "posterior wedging of vertebral body", "posterior wedging of vertebral bodies", "posterior wedging" ], "HP:0008445": [ "cervical spinal canal stenosis", "narrow cervical spinal canal" ], "HP:0008447": [ "hypoplastic coccygeal vertebra", "hypoplastic coccygeal vertebrae" ], "HP:0008449": [ "progressive cervical vertebral spine fusion" ], "HP:0008450": [ "narrow vertebral interpedicular distance", "interpedicular narrowing", "narrow interpedicular space", "narrow interpediculate distance", "narrow interpediculate distances", "narrowing of interpediculate distance", "narrowing of interpediculate distances" ], "HP:0008426": [ "narrow vertebral interpedicular distance", "interpedicular narrowing", "narrow interpedicular space", "narrow interpediculate distance", "narrow interpediculate distances", "narrowing of interpediculate distance", "narrowing of interpediculate distances" ], "HP:0008448": [ "narrow vertebral interpedicular distance", "interpedicular narrowing", "narrow interpedicular space", "narrow interpediculate distance", "narrow interpediculate distances", "narrowing of interpediculate distance", "narrowing of interpediculate distances" ], "HP:0008474": [ "narrow vertebral interpedicular distance", "interpedicular narrowing", "narrow interpedicular space", "narrow interpediculate distance", "narrow interpediculate distances", "narrowing of interpediculate distance", "narrowing of interpediculate distances" ], "HP:0008451": [ "posterior vertebral hypoplasia" ], "HP:0008452": [ "wafer - thin platyspondyly" ], "HP:0008453": [ "congenital kyphoscoliosis" ], "HP:0008454": [ "lumbar kyphosis", "lumbar gibbus deformity", "round low back", "rounded lower back" ], "HP:0008487": [ "lumbar kyphosis", "lumbar gibbus deformity", "round low back", "rounded lower back" ], "HP:0008455": [ "dysplastic sacrum", "absence of some of the sacral and coccygeal bone", "absence of some of the sacral and coccygeal bones", "partial sacral agenesis", "sacral dysgenesis" ], "HP:0008456": [ "c2 - c3 subluxation" ], "HP:0008457": [ "caudal interpedicular narrowing", "caudal narrowing of interpedicular distance", "caudal narrowing of interpedicular distances" ], "HP:0008458": [ "progressive congenital scoliosis" ], "HP:0008459": [ "cervical vertebral agenesis", "cervical vertebra agenesis", "cervical vertebrae agenesis", "miss cervical vertebra", "missing cervical vertebrae" ], "HP:0008460": [ "hypoplastic spinal process", "hypoplastic spinal processes", "underdeveloped spinal process", "underdeveloped spinal processes" ], "HP:0008461": [ "cervical vertebral facet hypoplasia" ], "HP:0008462": [ "cervical instability" ], "HP:0008463": [ "central vertebral hypoplasia" ], "HP:0008464": [ "absent spinous process of low thoracic and lumbar vertebra", "absent spinous processes of lower thoracic and lumbar vertebrae" ], "HP:0008465": [ "absent vertebra", "absent vertebrae" ], "HP:0008467": [ "thoracic hemivertebrae", "midthoracic hemivertebrae" ], "HP:0004604": [ "thoracic hemivertebrae", "midthoracic hemivertebrae" ], "HP:0008468": [ "abnormal sacral segmentation" ], "HP:0008469": [ "cervical vertebral dysplasia" ], "HP:0008470": [ "low thoracic interpediculate narrowness", "lower thoracic interpediculate narrowness", "narrowness of interpediculate distance in low thoracic region", "narrowness of interpediculate distances in lower thoracic regions" ], "HP:0008472": [ "prominent protruding coccyx", "large tailbone", "prominent protrude tailbone", "prominent protruding tailbone" ], "HP:0008473": [ "narrow anterio - posterior vertebral body diameter", "reduce anterior - posterior diameter of vertebral body", "reduced anterior - posterior diameter of vertebral bodies", "reduce sagittal diameter of vertebra", "reduced sagittal diameter of vertebrae" ], "HP:0005732": [ "narrow anterio - posterior vertebral body diameter", "reduce anterior - posterior diameter of vertebral body", "reduced anterior - posterior diameter of vertebral bodies", "reduce sagittal diameter of vertebra", "reduced sagittal diameter of vertebrae" ], "HP:0008475": [ "hypoplastic sacral vertebra", "hypoplastic sacral vertebrae" ], "HP:0008476": [ "irregular sclerotic endplate", "irregular sclerotic endplates", "irregular , dense end plate" ], "HP:0004624": [ "irregular sclerotic endplate", "irregular sclerotic endplates", "irregular , dense end plate" ], "HP:0008477": [ "poorly ossify cervical vertebra", "poorly ossified cervical vertebrae" ], "HP:0008478": [ "scheuermann - like vertebral change", "scheuermann - like vertebral changes" ], "HP:0008479": [ "obsolete small vertebral body", "obsolete small vertebral bodies", "hypoplastic vertebral body", "hypoplastic vertebral bodies", "small vertebra", "small vertebrae", "small vertebral body", "small vertebral bodies", "underdeveloped back bone", "underdeveloped back bones" ], "HP:0008480": [ "cervical spondylosis", "cervical oestoarthritis", "neck arthritis" ], "HP:0008482": [ "asymmetry of spinal facet joint", "asymmetry of spinal facet joints" ], "HP:0008483": [ "cervical vertebral body with decreased anteroposterior diameter", "cervical vertebral bodies with decreased anteroposterior diameter" ], "HP:0008484": [ "thoracolumbar interpediculate narrowness", "narrow thoracolumbar interpediculate distance" ], "HP:0008486": [ "lumbar interpedicular narrowing", "decrease lumbar vertebra interpediculate distance", "decreasing lumbar vertebrae interpediculate distance" ], "HP:0008488": [ "anterior rounding of vertebral body", "anterior rounding of vertebral bodies" ], "HP:0008489": [ "spondylolisthesis at l5 - s1", "spondylolysis and spondylolisthesis of l5" ], "HP:0005779": [ "spondylolisthesis at l5 - s1", "spondylolysis and spondylolisthesis of l5" ], "HP:0008490": [ "sacral segmentation defect" ], "HP:0008491": [ "premature anterior fontanel closure" ], "HP:0008494": [ "inferior lens subluxation", "inferior subluxate lens", "inferior subluxated lens" ], "HP:0008496": [ "multiple row of eyelash", "multiple rows of eyelashes", "double row of eyelash", "double row of eyelashes", "extra row of eyelash", "extra rows of eyelashes", "two row of eyelash", "two rows of eyelashes" ], "HP:0008497": [ "congenital craniofacial dysostosis" ], "HP:0008498": [ "no permanent dentition", "absence of adult teeth", "absence of secondary dentition", "miss adult teeth", "missing adult teeth", "no adult dentition", "no secondary dentition" ], "HP:0008499": [ "high hypermetropia", "high hyperopia", "high - grade hypermetropia", "severe farsightedness", "severe long - sightedness" ], "HP:0008501": [ "median cleft lip and palate", "central cleft lip and palate", "medial cleft lip and palate", "midline cleft lip / palate", "wide midline cleft lip / palate" ], "HP:0009089": [ "median cleft lip and palate", "central cleft lip and palate", "medial cleft lip and palate", "midline cleft lip / palate", "wide midline cleft lip / palate" ], "HP:0008504": [ "moderate sensorineural hearing impairment", "moderate neural deafness" ], "HP:0008507": [ "static ophthalmoparesis" ], "HP:0008509": [ "age leonine appearance", "aged leonine appearance" ], "HP:0008511": [ "central posterior corneal opacity" ], "HP:0008513": [ "bilateral conductive hearing impairment", "bilateral conductive deafness", "bilateral conductive hearing loss" ], "HP:0008536": [ "bilateral conductive hearing impairment", "bilateral conductive deafness", "bilateral conductive hearing loss" ], "HP:0008515": [ "aplasia / hypoplasia of the vertebra", "aplasia / hypoplasia of the vertebrae", "absent / small vertebra", "absent / small vertebrae", "absent / underdevelop vertebra", "absent / underdeveloped vertebrae" ], "HP:0008516": [ "abnormality of the vertebral spinous process", "abnormality of the vertebral spinous processes" ], "HP:0008517": [ "aplasia / hypoplasia of the sacrum", "absent / small sacrum", "absent / underdevelop sacrum", "absent / underdeveloped sacrum" ], "HP:0008518": [ "aplasia / hypoplasia involve the vertebral column", "aplasia / hypoplasia involving the vertebral column", "absent / small backbone", "absent / small spine", "absent / small vertebral column", "absent / underdevelop backbone", "absent / underdeveloped backbone", "absent / underdevelop spine", "absent / underdeveloped spine", "absent / underdevelop vertebral column", "absent / underdeveloped vertebral column" ], "HP:0008519": [ "abnormal coccyx morphology", "abnormal tailbone", "abnormality of the coccyx" ], "HP:0002830": [ "abnormal coccyx morphology", "abnormal tailbone", "abnormality of the coccyx" ], "HP:0008523": [ "posterior helix pit", "ear , posterior helical groove", "ear , posterior helical notch", "helix , posterior pit", "indentation in back of outer ear", "pit in posterior aspect of ear helix", "pits in posterior aspect of ear helices" ], "HP:0008527": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0004455": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0004457": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008520": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008521": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008540": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008543": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008545": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008546": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008556": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008558": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008561": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008571": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008603": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008612": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008620": [ "congenital sensorineural hearing impairment", "bilateral congenital sensorineural deafness", "congenital neurosensory deafness", "congenital perceptive deafness", "congenital sensorineural deafness", "congenital sensorineural hearing loss", "hearing loss , congenital sensorineural" ], "HP:0008528": [ "long hair grow from helix of pinna", "long hairs growing from helix of pinna", "ear hair", "long hair grow from helix of ear", "long hairs growing from helix of ear" ], "HP:0008529": [ "absence of acoustic reflex", "absence of acoustic middle ear muscle reflex", "absence of acoustic middle ear muscle reflexes", "absent middle ear reflex", "absent middle ear reflexes" ], "HP:0008595": [ "absence of acoustic reflex", "absence of acoustic middle ear muscle reflex", "absence of acoustic middle ear muscle reflexes", "absent middle ear reflex", "absent middle ear reflexes" ], "HP:0008537": [ "cleft at the superior portion of the pinna", "cleft at the superior portion of the ear" ], "HP:0008541": [ "superiorly displace ear", "superiorly displaced ears", "high set ear", "high set ears" ], "HP:0008542": [ "low - frequency hearing loss" ], "HP:0008544": [ "abnormally fold helix", "abnormally folded helix" ], "HP:0008551": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0000393": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0000409": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0008550": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0008618": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0008621": [ "microtia", "bilateral microtia", "hypoplasia of the external ear", "hypoplastic ear", "hypoplastic ears", "hypoplastic pinna", "small ear", "small ears", "small pinna", "small pinnae", "underdeveloped ear", "underdeveloped ears" ], "HP:0008554": [ "cochlear malformation" ], "HP:0008555": [ "absent vestibular function" ], "HP:0008559": [ "hypoplastic superior helix", "underdeveloped superior helix", "underdeveloped superior helices" ], "HP:0008627": [ "hypoplastic superior helix", "underdeveloped superior helix", "underdeveloped superior helices" ], "HP:0008568": [ "vestibular areflexia", "vestibular ataxia" ], "HP:0008526": [ "vestibular areflexia", "vestibular ataxia" ], "HP:0008569": [ "microtia , second degree", "cockleshell ear", "constrict helix type iv", "constricted helix type iv", "ear , grade ii dysplasia", "mini ear", "severe cup ear , type iii", "severe cupped ear , type iii", "shell ear", "snail ear" ], "HP:0008572": [ "external ear malformation" ], "HP:0008594": [ "external ear malformation" ], "HP:0008573": [ "low - frequency sensorineural hearing impairment", "low - frequency sensorineural hearing loss" ], "HP:0008577": [ "underfolded helix", "poorly fold helix", "poorly folded helices" ], "HP:0008583": [ "underfolded superior helix", "underfolded superior helices" ], "HP:0008586": [ "hypoplasia of the cochlea", "hypoplastic cochlea", "underdeveloped cochlea" ], "HP:0008587": [ "mild neurosensory hearing impairment", "mild neurosensory hearing loss" ], "HP:0008588": [ "slit - like opening of the exterior auditory meatus" ], "HP:0008589": [ "hypoplastic helix", "hypoplastic helices", "underdeveloped helix", "underdeveloped helices" ], "HP:0008591": [ "congenital conductive hearing impairment", "congenital conductive deafness", "congenital conductive hearing loss" ], "HP:0008525": [ "congenital conductive hearing impairment", "congenital conductive deafness", "congenital conductive hearing loss" ], "HP:0008593": [ "prominent antitragus", "enlarge antitragus", "enlarged antitragus", "hyperplastic antitragus", "hypertrophic antitragus" ], "HP:0008596": [ "postlingual sensorineural hearing impairment" ], "HP:0008598": [ "mild conductive hearing impairment", "conductive hearing loss , mild" ], "HP:0008605": [ "unilateral external ear deformity", "deform external ear on one side", "deformed external ear on one side" ], "HP:0008606": [ "supraauricular pit", "pit above the ear", "supraauricular fistula", "supraauricular sinus", "supraauricular sinuses" ], "HP:0008607": [ "progressive conductive hearing impairment", "progressive conductive deafness" ], "HP:0008608": [ "hypertrophic auricular cartilage" ], "HP:0008609": [ "morphological abnormality of the middle ear", "middle ear malformation" ], "HP:0008610": [ "infantile sensorineural hearing impairment", "infantile sensorineural hearing loss" ], "HP:0008615": [ "adult onset sensorineural hearing impairment", "late sensorineural hearing loss", "sensorineural deafness , late - onset" ], "HP:0008532": [ "adult onset sensorineural hearing impairment", "late sensorineural hearing loss", "sensorineural deafness , late - onset" ], "HP:0008599": [ "adult onset sensorineural hearing impairment", "late sensorineural hearing loss", "sensorineural deafness , late - onset" ], "HP:0008619": [ "bilateral sensorineural hearing impairment", "bilateral nerve deafness", "bilateral sensorineural deafness", "bilateral sensorineural hearing loss", "hearing loss , sensorineural , bilateral" ], "HP:0008530": [ "bilateral sensorineural hearing impairment", "bilateral nerve deafness", "bilateral sensorineural deafness", "bilateral sensorineural hearing loss", "hearing loss , sensorineural , bilateral" ], "HP:0008539": [ "bilateral sensorineural hearing impairment", "bilateral nerve deafness", "bilateral sensorineural deafness", "bilateral sensorineural hearing loss", "hearing loss , sensorineural , bilateral" ], "HP:0008579": [ "bilateral sensorineural hearing impairment", "bilateral nerve deafness", "bilateral sensorineural deafness", "bilateral sensorineural hearing loss", "hearing loss , sensorineural , bilateral" ], "HP:0008585": [ "bilateral sensorineural hearing impairment", "bilateral nerve deafness", "bilateral sensorineural deafness", "bilateral sensorineural hearing loss", "hearing loss , sensorineural , bilateral" ], "HP:0008625": [ "severe sensorineural hearing impairment", "severe sensorineural deafness", "severe sensorineural hearing loss" ], "HP:0008534": [ "severe sensorineural hearing impairment", "severe sensorineural deafness", "severe sensorineural hearing loss" ], "HP:0008574": [ "severe sensorineural hearing impairment", "severe sensorineural deafness", "severe sensorineural hearing loss" ], "HP:0008628": [ "abnormality of the stapes", "stapedial abnormality", "stapedial abnormalities" ], "HP:0008629": [ "obsolete pulsatile tinnitus ( tympanic paraganglioma )", "pulsatile tinnitus" ], "HP:0008631": [ "ureteral dysgenesis" ], "HP:0008633": [ "agonadism", "absent gonadal tissue", "gonadal agenesis" ], "HP:0008635": [ "hypertrophy of the urinary bladder", "hypertrophic urinary bladder" ], "HP:0008636": [ "lobular glomerulopathy" ], "HP:0008639": [ "gonadal hypoplasia", "underdeveloped gonad" ], "HP:0008640": [ "congenital macroorchidism" ], "HP:0008643": [ "nephroblastomatosis" ], "HP:0008647": [ "pubertal developmental failure in female", "pubertal developmental failure in females" ], "HP:0008648": [ "anteriorly displace urethral meatus", "anteriorly displaced urethral meatus" ], "HP:0008651": [ "uric acid urolithiasis independent of gout" ], "HP:0008652": [ "autonomic erectile dysfunction", "impotence due to autonomic dysfunction" ], "HP:0008653": [ "crescentic glomerulonephritis" ], "HP:0008655": [ "aplasia / hypoplasia of the fallopian tube", "absent or rudimentary fallopian tube", "absent or rudimentary fallopian tubes", "absent / small fallopian tube", "absent / underdevelop fallopian tube", "absent / underdeveloped fallopian tube" ], "HP:0008656": [ "incomplete male pseudohermaphroditism" ], "HP:0008659": [ "multiple small medullary renal cyst", "multiple small medullary renal cysts", "medullary cystic disease", "medullary sponge kidney disease" ], "HP:0005569": [ "multiple small medullary renal cyst", "multiple small medullary renal cysts", "medullary cystic disease", "medullary sponge kidney disease" ], "HP:0100956": [ "multiple small medullary renal cyst", "multiple small medullary renal cysts", "medullary cystic disease", "medullary sponge kidney disease" ], "HP:0008660": [ "renotubular dysgenesis", "renal tubular dysgenesis" ], "HP:0008661": [ "urethral stenosis", "narrowing of the urethra" ], "HP:0008663": [ "renal sarcoma" ], "HP:0008664": [ "urethral sphincter sclerosis" ], "HP:0008665": [ "obsolete clitoromegaly", "clitoral hypertrophy", "clitoral enlargement", "clitoromegaly", "enlarge clitoris", "enlarged clitoris", "hypertrophic clitoris", "prominent clitoris" ], "HP:0008728": [ "obsolete clitoromegaly", "clitoral hypertrophy", "clitoral enlargement", "clitoromegaly", "enlarge clitoris", "enlarged clitoris", "hypertrophic clitoris", "prominent clitoris" ], "HP:0008666": [ "impaired histidine renal tubular absorption" ], "HP:0008668": [ "gonadal dysgenesis , male", "46 , xy gonadal dysgenesis" ], "HP:0008669": [ "abnormal spermatogenesis", "abnormal sperm development", "impaired spermatogenesis" ], "HP:0008670": [ "partial vaginal septum" ], "HP:0008672": [ "calcium oxalate nephrolithiasis", "ca oxalate kidney stone", "ca oxalate nephrolithiasis", "ca oxalate urolithiasis", "ca2+ oxalate kidney stone", "ca2+ oxalate nephrolithiasis", "ca2+ oxalate urolithiasis", "calcium oxalate kidney stone", "calcium oxalate kidney stones", "calcium oxalate urolithiasis", "oxalate nephrolithiasis" ], "HP:0008700": [ "calcium oxalate nephrolithiasis", "ca oxalate kidney stone", "ca oxalate nephrolithiasis", "ca oxalate urolithiasis", "ca2+ oxalate kidney stone", "ca2+ oxalate nephrolithiasis", "ca2+ oxalate urolithiasis", "calcium oxalate kidney stone", "calcium oxalate kidney stones", "calcium oxalate urolithiasis", "oxalate nephrolithiasis" ], "HP:0008725": [ "calcium oxalate nephrolithiasis", "ca oxalate kidney stone", "ca oxalate nephrolithiasis", "ca oxalate urolithiasis", "ca2+ oxalate kidney stone", "ca2+ oxalate nephrolithiasis", "ca2+ oxalate urolithiasis", "calcium oxalate kidney stone", "calcium oxalate kidney stones", "calcium oxalate urolithiasis", "oxalate nephrolithiasis" ], "HP:0008675": [ "enlarge polycystic ovary", "enlarged polycystic ovaries", "enlarged ovary with cyst", "enlarged ovaries with cysts" ], "HP:0008676": [ "congenital megaureter", "congenital megaloureter" ], "HP:0008677": [ "congenital nephrotic syndrome", "congenital nephrosis" ], "HP:0008678": [ "renal hypoplasia / aplasia", "absent / small kidney", "absent / underdevelop kidney", "absent / underdeveloped kidney", "renal agenesis / hypoplasia", "renal aplasia / hypoplasia" ], "HP:0004744": [ "renal hypoplasia / aplasia", "absent / small kidney", "absent / underdevelop kidney", "absent / underdeveloped kidney", "renal agenesis / hypoplasia", "renal aplasia / hypoplasia" ], "HP:0008701": [ "renal hypoplasia / aplasia", "absent / small kidney", "absent / underdevelop kidney", "absent / underdeveloped kidney", "renal agenesis / hypoplasia", "renal aplasia / hypoplasia" ], "HP:0008682": [ "renal tubular epithelial necrosis", "acute tubular necrosis", "renal tubular necrosis" ], "HP:0008683": [ "enlarge labium minora", "enlarged labia minora", "hypertrophic labium minora", "hypertrophic labia minora", "labia minora hypertrophy", "obsolete hypertrophic labium minora", "obsolete hypertrophic labia minora" ], "HP:0008662": [ "enlarge labium minora", "enlarged labia minora", "hypertrophic labium minora", "hypertrophic labia minora", "labia minora hypertrophy", "obsolete hypertrophic labium minora", "obsolete hypertrophic labia minora" ], "HP:0008694": [ "enlarge labium minora", "enlarged labia minora", "hypertrophic labium minora", "hypertrophic labia minora", "labia minora hypertrophy", "obsolete hypertrophic labium minora", "obsolete hypertrophic labia minora" ], "HP:0008684": [ "aplasia / hypoplasia of the uterus", "absent / small uterus", "absent / underdevelop uterus", "absent / underdeveloped uterus" ], "HP:0008687": [ "hypoplasia of the prostate", "hypoplastic prostate", "underdeveloped prostate" ], "HP:0008689": [ "bilateral cryptorchidism", "cryptorchidism , bilateral" ], "HP:0008686": [ "bilateral cryptorchidism", "cryptorchidism , bilateral" ], "HP:0008691": [ "solitary bladder diverticulum" ], "HP:0008695": [ "transient nephrotic syndrome", "transient nephrosis" ], "HP:0008696": [ "renal hamartoma" ], "HP:0008697": [ "hypoplasia of the fallopian tube", "rudimentary fallopian tube", "rudimentary fallopian tubes", "underdeveloped fallopian tube" ], "HP:0008702": [ "absent internal genitalia" ], "HP:0008703": [ "gonadal calcification" ], "HP:0008705": [ "ureteral triplication" ], "HP:0008706": [ "distal urethral duplication" ], "HP:0008707": [ "absent scrotum" ], "HP:0008708": [ "partial development of the penile shaft" ], "HP:0008711": [ "benign prostatic hyperplasia", "benign prostatic hypertrophy" ], "HP:0008714": [ "ureterovesical stenosis" ], "HP:0008715": [ "testicular dysgenesis" ], "HP:0008716": [ "urethrovaginal fistula", "urethrovaginal fistulae" ], "HP:0008717": [ "unilateral renal atrophy", "kidney degeneration on one side", "unilateral kidney wasting" ], "HP:0008718": [ "unilateral renal dysplasia" ], "HP:0008720": [ "primary testicular failure" ], "HP:0008722": [ "urethral diverticulum" ], "HP:0008723": [ "gonadal dysgenesis with female appearance , male", "xy female gonadal dysgenesis" ], "HP:0008724": [ "hypoplasia of the ovary", "hypoplastic ovary", "underdeveloped ovary" ], "HP:0008726": [ "hypoplasia of the vagina", "hypoplastic vagina", "rudimentary vagina", "underdeveloped vagina" ], "HP:0011938": [ "hypoplasia of the vagina", "hypoplastic vagina", "rudimentary vagina", "underdeveloped vagina" ], "HP:0008729": [ "absence of labium majora", "absence of labia majora", "absent vaginal lip", "absent vaginal lips" ], "HP:0008730": [ "female external genitalia in individual with 46 , xy karyotype", "male with female external genitalia", "males with female external genitalia" ], "HP:0008719": [ "female external genitalia in individual with 46 , xy karyotype", "male with female external genitalia", "males with female external genitalia" ], "HP:0008732": [ "renal hypophosphatemia" ], "HP:0008733": [ "dysplastic testis", "dysplastic testes" ], "HP:0008734": [ "decrease testicular size", "decreased testicular size", "hypoplastic testis", "hypoplastic testes", "small testis", "small testes", "testicular hypoplasia" ], "HP:0000043": [ "decrease testicular size", "decreased testicular size", "hypoplastic testis", "hypoplastic testes", "small testis", "small testes", "testicular hypoplasia" ], "HP:0008736": [ "hypoplasia of penis", "underdeveloped penis" ], "HP:0008632": [ "hypoplasia of penis", "underdeveloped penis" ], "HP:0008738": [ "partially duplicate kidney", "partially duplicated kidney" ], "HP:0008739": [ "labial pseudohypertrophy" ], "HP:0008740": [ "longitudinal vaginal septum", "vertical vaginal septum" ], "HP:0008698": [ "longitudinal vaginal septum", "vertical vaginal septum" ], "HP:0008742": [ "prominent prostate median bar" ], "HP:0008743": [ "coronal hypospadias", "subcoronal hypospadias" ], "HP:0008744": [ "abnormal aryepiglottic fold morphology", "abnormal aryepiglottic fold", "abnormal aryepiglottic folds", "abnormality of the aryepiglottic fold" ], "HP:0008747": [ "cartilaginous ossification of larynx" ], "HP:0008749": [ "laryngeal hypoplasia", "hypoplastic larynx" ], "HP:0005935": [ "laryngeal hypoplasia", "hypoplastic larynx" ], "HP:0008750": [ "laryngeal atresia" ], "HP:0008751": [ "laryngeal cleft", "laryngotracheal cleft", "laryngotracheoesophageal cleft i" ], "HP:0008752": [ "laryngeal cartilage malformation", "vocal impairment , severe , due to laryngeal cartilage abnormality", "vocal impairment , severe , due to laryngeal cartilage abnormalities" ], "HP:0008375": [ "laryngeal cartilage malformation", "vocal impairment , severe , due to laryngeal cartilage abnormality", "vocal impairment , severe , due to laryngeal cartilage abnormalities" ], "HP:0008753": [ "aplasia of the epiglottis", "absent epiglottis" ], "HP:0008754": [ "laryngeal calcification", "laryngeal calcifications" ], "HP:0008748": [ "laryngeal calcification", "laryngeal calcifications" ], "HP:0008755": [ "laryngotracheomalacia" ], "HP:0008756": [ "bowing of the vocal cord", "bowing of the vocal cords" ], "HP:0008757": [ "unilateral vocal cord paralysis", "unilateral paralysis of the vocal cord" ], "HP:0008760": [ "violent behavior", "violent behaviour" ], "HP:0008762": [ "repetitive compulsive behavior", "repetitive compulsive behaviour" ], "HP:0008763": [ "no social interaction" ], "HP:0008765": [ "auditory hallucination", "auditory hallucinations", "hallucination of sound", "hallucinations of sound", "hear sound", "hearing sounds" ], "HP:0000714": [ "auditory hallucination", "auditory hallucinations", "hallucination of sound", "hallucinations of sound", "hear sound", "hearing sounds" ], "HP:0008767": [ "self - mutilation of tongue and lip due to involuntary movement", "self - mutilation of tongue and lips due to involuntary movements" ], "HP:0008768": [ "inappropriate sexual behavior", "inappropriate sexual behaviour" ], "HP:0008770": [ "obsessive - compulsive trait", "obsessive - compulsive traits" ], "HP:0008761": [ "obsessive - compulsive trait", "obsessive - compulsive traits" ], "HP:0008771": [ "aplasia / hypoplasia of the ear", "absent / small ear", "absent / underdevelop ear", "absent / underdeveloped ear" ], "HP:0008772": [ "aplasia / hypoplasia of the external ear", "absent / small external ear", "absent / underdevelop external ear", "absent / underdeveloped external ear" ], "HP:0008773": [ "aplasia / hypoplasia of the middle ear", "absent / small middle ear", "absent / underdevelop middle ear", "absent / underdeveloped middle ear", "hypoplastic / aplastic middle ear structure", "hypoplastic / aplastic middle ear structures", "middle ear hypoplasia / aplasia" ], "HP:0008533": [ "aplasia / hypoplasia of the middle ear", "absent / small middle ear", "absent / underdevelop middle ear", "absent / underdeveloped middle ear", "hypoplastic / aplastic middle ear structure", "hypoplastic / aplastic middle ear structures", "middle ear hypoplasia / aplasia" ], "HP:0008548": [ "aplasia / hypoplasia of the middle ear", "absent / small middle ear", "absent / underdevelop middle ear", "absent / underdeveloped middle ear", "hypoplastic / aplastic middle ear structure", "hypoplastic / aplastic middle ear structures", "middle ear hypoplasia / aplasia" ], "HP:0008774": [ "aplasia / hypoplasia of the inner ear", "absent / small inner ear", "absent / underdevelop inner ear", "absent / underdeveloped inner ear" ], "HP:0008775": [ "abnormal prostate morphology", "abnormality of the prostate" ], "HP:0008776": [ "abnormal renal artery morphology", "abnormal kidney artery", "abnormality of the renal artery" ], "HP:0008777": [ "abnormal vocal cord morphology", "abnormality of the vocal cord", "abnormality of the vocal cords" ], "HP:0008780": [ "congenital bilateral hip dislocation" ], "HP:0008783": [ "wide proximal femoral metaphysis", "wide metaphysis of innermost thighbone" ], "HP:0008790": [ "wide proximal femoral metaphysis", "wide metaphysis of innermost thighbone" ], "HP:0008784": [ "wide capital femoral epiphysis", "wide capital femoral epiphyses", "wide end part of innermost thighbone" ], "HP:0008785": [ "delay ossification of pubic ramus", "delayed ossification of pubic rami" ], "HP:0008786": [ "iliac crest serration", "irregular lacy iliac crest", "lacy appearance of iliac crest" ], "HP:0008825": [ "iliac crest serration", "irregular lacy iliac crest", "lacy appearance of iliac crest" ], "HP:0008788": [ "delay pubic bone ossification", "delayed pubic bone ossification", "absent pubic ossification in infancy", "delay maturation fo pubic bone", "delayed maturation fo pubic bone", "delay mineralization of pubic bone", "delayed mineralization of pubic bone" ], "HP:0008795": [ "delay pubic bone ossification", "delayed pubic bone ossification", "absent pubic ossification in infancy", "delay maturation fo pubic bone", "delayed maturation fo pubic bone", "delay mineralization of pubic bone", "delayed mineralization of pubic bone" ], "HP:0008827": [ "delay pubic bone ossification", "delayed pubic bone ossification", "absent pubic ossification in infancy", "delay maturation fo pubic bone", "delayed maturation fo pubic bone", "delay mineralization of pubic bone", "delayed mineralization of pubic bone" ], "HP:0008789": [ "cone - shaped capital femoral epiphysis", "cone - shaped end part of innermost thighbone" ], "HP:0008794": [ "dysplastic iliac wing", "dysplastic iliac wings" ], "HP:0008796": [ "externally rotate hip", "externally rotated hips" ], "HP:0008797": [ "early ossification of capital femoral epiphysis", "early ossification of capital femoral epiphyses" ], "HP:0008798": [ "widen great sciatic notch", "widened greater sciatic notch", "widen sacrosciatic notch", "widened sacrosciatic notch", "widening of the sacrosciatic notch", "obsolete widening of the sacrosciatic notch" ], "HP:0010457": [ "widen great sciatic notch", "widened greater sciatic notch", "widen sacrosciatic notch", "widened sacrosciatic notch", "widening of the sacrosciatic notch", "obsolete widening of the sacrosciatic notch" ], "HP:0008800": [ "limited hip movement" ], "HP:0008801": [ "hypoplasia of the less trochanter", "hypoplasia of the lesser trochanter", "less trochanter hypoplasia", "lesser trochanter hypoplasia" ], "HP:0008802": [ "hypoplasia of the femoral head", "hypoplastic femoral head", "small femoral head", "small femoral heads", "small head of thigh bone" ], "HP:0008831": [ "hypoplasia of the femoral head", "hypoplastic femoral head", "small femoral head", "small femoral heads", "small head of thigh bone" ], "HP:0008804": [ "broad femoral head", "wide head of thigh bone" ], "HP:0008807": [ "acetabular dysplasia", "dysplastic acetabulae" ], "HP:0008799": [ "acetabular dysplasia", "dysplastic acetabulae" ], "HP:0008808": [ "high iliac wing", "high iliac wings", "narrow , high iliac wing", "narrow , high iliac wings" ], "HP:0008778": [ "high iliac wing", "high iliac wings", "narrow , high iliac wing", "narrow , high iliac wings" ], "HP:0008812": [ "flatten femoral head", "flattened femoral head", "flat head of thigh bone", "flattened femoral heads" ], "HP:0008817": [ "aplastic pubic bone", "aplastic pubic bones", "absent pubic bone", "absent pubic bones" ], "HP:0008818": [ "large iliac wing", "large iliac wings" ], "HP:0008819": [ "narrow femoral neck", "narrow femoral necks", "narrow neck of thigh bone" ], "HP:0008820": [ "absent ossification of capital femoral epiphysis", "absent ossification of femoral capital epiphysis", "absent ossification of femoral capital epiphyses" ], "HP:0008821": [ "hypoplastic inferior ilium", "hypoplastic inferior ilia" ], "HP:0008822": [ "hypoplastic ischiopubic ramus", "hypoplastic ischiopubic rami" ], "HP:0008823": [ "hypoplastic inferior pubic ramus", "hypoplastic inferior pubic rami" ], "HP:0008824": [ "hypoplastic iliac body", "hypoplastic iliac bodies", "small iliac body", "small iliac bodies" ], "HP:0005740": [ "hypoplastic iliac body", "hypoplastic iliac bodies", "small iliac body", "small iliac bodies" ], "HP:0008826": [ "dislocation of the femoral head", "dislocate femoral head", "dislocated femoral heads", "dislocate head of thigh bone", "dislocated head of thigh bone" ], "HP:0008828": [ "delay proximal femoral epiphyseal ossification", "delayed proximal femoral epiphyseal ossification", "delay ossification of the proximal femoral epiphysis", "delayed ossification of the proximal femoral epiphysis", "delay ossification proximal femoral epiphysis", "delayed ossification proximal femoral epiphyses" ], "HP:0008829": [ "delay femoral head ossification", "delayed femoral head ossification", "delay maturation of the head of the thigh bone", "delayed maturation of the head of the thigh bone" ], "HP:0008830": [ "hypoplastic pubic ramus", "hypoplastic pubic rami" ], "HP:0008833": [ "irregular acetabular roof" ], "HP:0008835": [ "multicentric femoral head ossification" ], "HP:0008838": [ "stipple calcification proximal humeral epiphysis", "stippled calcification proximal humeral epiphyses", "speckled calcification in end part of innermost long bone of upper arm", "speckled calcifications in end part of innermost long bone of upper arm" ], "HP:0008839": [ "hypoplastic pelvis", "hypoplastic pelvic bone", "hypoplastic pelvic bones", "small pelvis" ], "HP:0003373": [ "hypoplastic pelvis", "hypoplastic pelvic bone", "hypoplastic pelvic bones", "small pelvis" ], "HP:0008816": [ "hypoplastic pelvis", "hypoplastic pelvic bone", "hypoplastic pelvic bones", "small pelvis" ], "HP:0008843": [ "hip osteoarthritis", "osteoarthritis of hip" ], "HP:0008809": [ "hip osteoarthritis", "osteoarthritis of hip" ], "HP:0008845": [ "mesomelic short stature", "dwarfism , short limb mesomelic", "mesomelic dwarfism", "short stature , disproportionate mesomelic", "short stature , mesomelic" ], "HP:0008896": [ "mesomelic short stature", "dwarfism , short limb mesomelic", "mesomelic dwarfism", "short stature , disproportionate mesomelic", "short stature , mesomelic" ], "HP:0008903": [ "mesomelic short stature", "dwarfism , short limb mesomelic", "mesomelic dwarfism", "short stature , disproportionate mesomelic", "short stature , mesomelic" ], "HP:0008910": [ "mesomelic short stature", "dwarfism , short limb mesomelic", "mesomelic dwarfism", "short stature , disproportionate mesomelic", "short stature , mesomelic" ], "HP:0008846": [ "severe intrauterine growth retardation", "intrauterine growth retardation , severe", "severe prenatal growth deficiency" ], "HP:0008899": [ "severe intrauterine growth retardation", "intrauterine growth retardation , severe", "severe prenatal growth deficiency" ], "HP:0008906": [ "severe intrauterine growth retardation", "intrauterine growth retardation , severe", "severe prenatal growth deficiency" ], "HP:0008848": [ "moderately short stature", "moderate short stature", "short stature , moderate" ], "HP:0008891": [ "moderately short stature", "moderate short stature", "short stature , moderate" ], "HP:0008850": [ "severe postnatal growth retardation", "marked growth retardation", "severe growth delay in child", "severe growth delay in children", "severe postnatal growth deficiency", "severe postnatal growth failure" ], "HP:0001521": [ "severe postnatal growth retardation", "marked growth retardation", "severe growth delay in child", "severe growth delay in children", "severe postnatal growth deficiency", "severe postnatal growth failure" ], "HP:0008854": [ "severe postnatal growth retardation", "marked growth retardation", "severe growth delay in child", "severe growth delay in children", "severe postnatal growth deficiency", "severe postnatal growth failure" ], "HP:0008911": [ "severe postnatal growth retardation", "marked growth retardation", "severe growth delay in child", "severe growth delay in children", "severe postnatal growth deficiency", "severe postnatal growth failure" ], "HP:0008932": [ "severe postnatal growth retardation", "marked growth retardation", "severe growth delay in child", "severe growth delay in children", "severe postnatal growth deficiency", "severe postnatal growth failure" ], "HP:0008855": [ "moderate postnatal growth retardation", "moderate growth delay in child", "moderate growth delay in children" ], "HP:0008857": [ "neonatal short - trunk short stature", "short - trunk dwarfism identifiable at birth" ], "HP:0008866": [ "failure to thrive secondary to recurrent infection", "failure to thrive secondary to recurrent infections", "falter weight secondary to recurrent infection", "faltering weight secondary to recurrent infections", "weight falter secondary to recurrent infection", "weight faltering secondary to recurrent infections" ], "HP:0008872": [ "feed difficulty in infancy", "feeding difficulties in infancy" ], "HP:0002016": [ "feed difficulty in infancy", "feeding difficulties in infancy" ], "HP:0002022": [ "feed difficulty in infancy", "feeding difficulties in infancy" ], "HP:0002568": [ "feed difficulty in infancy", "feeding difficulties in infancy" ], "HP:0008873": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0001523": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0003505": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0003509": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008858": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008869": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008875": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008880": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008881": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008889": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008912": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008914": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008928": [ "disproportionate short - limb short stature", "brachymelic dwarfism", "disproportionate short limb dwarfism", "dwarfism , short - limbed", "micromelic dwarfism", "short limb dwarfism", "short limb dwarfism , disproportionate", "short stature , disproportionate short limb", "short stature , disproportionate short - limb", "short - limb dwarfism", "short - limbed dwarfism" ], "HP:0008883": [ "mild intrauterine growth retardation", "mild prenatal growth deficiency" ], "HP:0008861": [ "mild intrauterine growth retardation", "mild prenatal growth deficiency" ], "HP:0008887": [ "adipose tissue loss", "loss of fat tissue" ], "HP:0008938": [ "adipose tissue loss", "loss of fat tissue" ], "HP:0008890": [ "severe short - limb dwarfism" ], "HP:0008897": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008844": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008865": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008868": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008901": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008918": [ "postnatal growth retardation", "growth delay as child", "growth delay as children", "growth retardation as child", "growth retardation as children", "postnatal growth deceleration", "postnatal growth deficiency", "postnatal growth failure" ], "HP:0008905": [ "rhizomelia", "disproportionately short upper portion of limb", "rhizomelic dwarfism", "rhizomelic limb shorten", "rhizomelic limb shortening", "rhizomelic short limb", "rhizomelic short limbs", "rhizomelic short stature", "rhizomelic shortening", "short stature , rhizomelic", "symmetrical rhizomelic limb shorten", "symmetrical rhizomelic limb shortening" ], "HP:0002968": [ "rhizomelia", "disproportionately short upper portion of limb", "rhizomelic dwarfism", "rhizomelic limb shorten", "rhizomelic limb shortening", "rhizomelic short limb", "rhizomelic short limbs", "rhizomelic short stature", "rhizomelic shortening", "short stature , rhizomelic", "symmetrical rhizomelic limb shorten", "symmetrical rhizomelic limb shortening" ], "HP:0003520": [ "rhizomelia", "disproportionately short upper portion of limb", "rhizomelic dwarfism", "rhizomelic limb shorten", "rhizomelic limb shortening", "rhizomelic short limb", "rhizomelic short limbs", "rhizomelic short stature", "rhizomelic shortening", "short stature , rhizomelic", "symmetrical rhizomelic limb shorten", "symmetrical rhizomelic limb shortening" ], "HP:0008852": [ "rhizomelia", "disproportionately short upper portion of limb", "rhizomelic dwarfism", "rhizomelic limb shorten", "rhizomelic limb shortening", "rhizomelic short limb", "rhizomelic short limbs", "rhizomelic short stature", "rhizomelic shortening", "short stature , rhizomelic", "symmetrical rhizomelic limb shorten", "symmetrical rhizomelic limb shortening" ], "HP:0008877": [ "rhizomelia", "disproportionately short upper portion of limb", "rhizomelic dwarfism", "rhizomelic limb shorten", "rhizomelic limb shortening", "rhizomelic short limb", "rhizomelic short limbs", "rhizomelic short stature", "rhizomelic shortening", "short stature , rhizomelic", "symmetrical rhizomelic limb shorten", "symmetrical rhizomelic limb shortening" ], "HP:0008909": [ "lethal short - limbed short stature", "lethal micromelic dwarfism", "lethal short - limbed dwarfism" ], "HP:0003506": [ "lethal short - limbed short stature", "lethal micromelic dwarfism", "lethal short - limbed dwarfism" ], "HP:0008915": [ "childhood - onset truncal obesity", "truncal obesity apparent in childhood" ], "HP:0008874": [ "childhood - onset truncal obesity", "truncal obesity apparent in childhood" ], "HP:0008921": [ "neonatal short - limb short stature", "dwarfism , neonatal short - limbed", "neonatal short - limbed dwarfism", "short limb dwarfism recognisable at birth", "short limb dwarfism recognizable at birth", "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable neonatally", "short - limbed dwarfism identifiable at birth" ], "HP:0001536": [ "neonatal short - limb short stature", "dwarfism , neonatal short - limbed", "neonatal short - limbed dwarfism", "short limb dwarfism recognisable at birth", "short limb dwarfism recognizable at birth", "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable neonatally", "short - limbed dwarfism identifiable at birth" ], "HP:0008894": [ "neonatal short - limb short stature", "dwarfism , neonatal short - limbed", "neonatal short - limbed dwarfism", "short limb dwarfism recognisable at birth", "short limb dwarfism recognizable at birth", "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable neonatally", "short - limbed dwarfism identifiable at birth" ], "HP:0008902": [ "neonatal short - limb short stature", "dwarfism , neonatal short - limbed", "neonatal short - limbed dwarfism", "short limb dwarfism recognisable at birth", "short limb dwarfism recognizable at birth", "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable neonatally", "short - limbed dwarfism identifiable at birth" ], "HP:0008924": [ "neonatal short - limb short stature", "dwarfism , neonatal short - limbed", "neonatal short - limbed dwarfism", "short limb dwarfism recognisable at birth", "short limb dwarfism recognizable at birth", "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable neonatally", "short - limbed dwarfism identifiable at birth" ], "HP:0008922": [ "childhood - onset short - trunk short stature", "disproportionate short - trunk short stature , identifiable in childhood", "short - trunk dwarfism identifiable during childhood" ], "HP:0003522": [ "childhood - onset short - trunk short stature", "disproportionate short - trunk short stature , identifiable in childhood", "short - trunk dwarfism identifiable during childhood" ], "HP:0008929": [ "asymmetric short stature" ], "HP:0008935": [ "generalize neonatal hypotonia", "generalized neonatal hypotonia", "generalise low muscle tone in neonate", "generalised low muscle tone in neonate", "generalise neonatal hypotonia", "generalised neonatal hypotonia", "generalize low muscle tone in neonate", "generalized low muscle tone in neonate", "hypotonia , neonatal , generalise", "hypotonia , neonatal , generalised", "hypotonia , neonatal , generalize", "hypotonia , neonatal , generalized" ], "HP:0008936": [ "muscular hypotonia of the trunk", "axial hypotonia", "low muscle tone in trunk", "truncal hypotonia" ], "HP:0002320": [ "muscular hypotonia of the trunk", "axial hypotonia", "low muscle tone in trunk", "truncal hypotonia" ], "HP:0008940": [ "generalize lymphadenopathy", "generalized lymphadenopathy", "generalise lymphadenopathy", "generalised lymphadenopathy", "generalised swelling of lymph node", "generalised swelling of lymph nodes", "generalize swelling of lymph node", "generalized swelling of lymph nodes", "swollen lymph node affect all region of the body", "swollen lymph nodes affecting all regions of the body" ], "HP:0008942": [ "acute rhabdomyolysis", "rhabdomyolysis , acute" ], "HP:0008944": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0003442": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0003714": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0006975": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0008949": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0009001": [ "distal low limb amyotrophy", "distal lower limb amyotrophy", "low leg amyotrophy", "lower leg amyotrophy", "low limb atrophy", "lower limb atrophy", "low limb degeneration", "lower limb degeneration", "low limb muscle hypotrophy", "lower limb muscle hypotrophy", "muscle atrophy , low limb , distal", "muscle atrophy , lower limb , distal" ], "HP:0008945": [ "loss of ability to walk in early childhood" ], "HP:0008946": [ "pelvic girdle amyotrophy", "hip girdle amyotrophy" ], "HP:0008947": [ "infantile muscular hypotonia", "decreased muscle tone in infant", "hypotonia early", "hypotonia in infancy", "hypotonia , early", "infantile hypotonia" ], "HP:0002449": [ "infantile muscular hypotonia", "decreased muscle tone in infant", "hypotonia early", "hypotonia in infancy", "hypotonia , early", "infantile hypotonia" ], "HP:0002523": [ "infantile muscular hypotonia", "decreased muscle tone in infant", "hypotonia early", "hypotonia in infancy", "hypotonia , early", "infantile hypotonia" ], "HP:0010572": [ "infantile muscular hypotonia", "decreased muscle tone in infant", "hypotonia early", "hypotonia in infancy", "hypotonia , early", "infantile hypotonia" ], "HP:0008948": [ "proximal upper limb amyotrophy", "proximal muscle atrophy in upper limb", "proximal muscle atrophy in upper limbs", "proximal upper limb muscle atrophy" ], "HP:0008995": [ "proximal upper limb amyotrophy", "proximal muscle atrophy in upper limb", "proximal muscle atrophy in upper limbs", "proximal upper limb muscle atrophy" ], "HP:0008952": [ "shoulder muscle hypoplasia", "underdeveloped shoulder muscle" ], "HP:0008953": [ "pectoralis major hypoplasia", "pectoralis major muscle hypoplasia" ], "HP:0008954": [ "intrinsic hand muscle atrophy" ], "HP:0008955": [ "progressive distal muscular atrophy" ], "HP:0008956": [ "proximal low limb amyotrophy", "proximal lower limb amyotrophy", "amyotrophy involve the thigh", "amyotrophy involving the thigh", "amyotrophy of the thigh musculature", "proximal low limb muscle atrophy", "proximal lower limb muscle atrophy", "thigh muscle atrophy", "wasting of thigh muscle" ], "HP:0003748": [ "proximal low limb amyotrophy", "proximal lower limb amyotrophy", "amyotrophy involve the thigh", "amyotrophy involving the thigh", "amyotrophy of the thigh musculature", "proximal low limb muscle atrophy", "proximal lower limb muscle atrophy", "thigh muscle atrophy", "wasting of thigh muscle" ], "HP:0008974": [ "proximal low limb amyotrophy", "proximal lower limb amyotrophy", "amyotrophy involve the thigh", "amyotrophy involving the thigh", "amyotrophy of the thigh musculature", "proximal low limb muscle atrophy", "proximal lower limb muscle atrophy", "thigh muscle atrophy", "wasting of thigh muscle" ], "HP:0008959": [ "distal upper limb muscle weakness" ], "HP:0008962": [ "calf muscle hypoplasia", "hypoplastic calf muscle", "hypoplastic calf muscles", "underdeveloped calf muscle", "underdeveloped calf muscles" ], "HP:0008963": [ "tibialis muscle weakness" ], "HP:0008964": [ "nonprogressive muscular atrophy" ], "HP:0008967": [ "exercise - induced muscle stiffness", "muscle stiffness with exercise", "muscle stiffness , exercise - induced" ], "HP:0003633": [ "exercise - induced muscle stiffness", "muscle stiffness with exercise", "muscle stiffness , exercise - induced" ], "HP:0008968": [ "muscle hypertrophy of the low extremity", "muscle hypertrophy of the lower extremities" ], "HP:0008969": [ "leg muscle stiffness" ], "HP:0008970": [ "scapulohumeral muscular dystrophy" ], "HP:0008972": [ "decreased activity of mitochondrial respiratory chain", "decreased activity of mitochondrial - encoded respiratory chain complex", "decreased activities of mitochondrial - encoded respiratory chain complexes", "decreased activity of mitochondrial respiratory complex", "decreased activity of mitochondrial respiratory complexes" ], "HP:0008978": [ "necrotizing myopathy" ], "HP:0008981": [ "calf muscle hypertrophy", "calf hypertrophy", "increase size of calf muscle", "increased size of calf muscles", "muscular hypertrophy of the calf muscle", "muscular hypertrophy of the calf muscles" ], "HP:0003703": [ "calf muscle hypertrophy", "calf hypertrophy", "increase size of calf muscle", "increased size of calf muscles", "muscular hypertrophy of the calf muscle", "muscular hypertrophy of the calf muscles" ], "HP:0009024": [ "calf muscle hypertrophy", "calf hypertrophy", "increase size of calf muscle", "increased size of calf muscles", "muscular hypertrophy of the calf muscle", "muscular hypertrophy of the calf muscles" ], "HP:0008984": [ "neck muscle hypoplasia", "decreased size of neck muscle", "deficiency of neck muscle", "hypotrophic neck muscle", "small neck muscle", "underdevelopment of neck muscle" ], "HP:0008985": [ "increase intramuscular fat", "increased intramuscular fat", "increase im fat", "increased im fat" ], "HP:0008986": [ "agenesis of the diaphragm", "absent diaphragm", "agenesis of diaphragm" ], "HP:0008988": [ "pelvic girdle muscle atrophy", "pelvic girdle muscle waste", "pelvic girdle muscle wasting" ], "HP:0008992": [ "pelvic girdle muscle atrophy", "pelvic girdle muscle waste", "pelvic girdle muscle wasting" ], "HP:0008991": [ "exercise - induced leg cramp", "exercise - induced leg cramps" ], "HP:0008993": [ "increase intraabdominal fat", "increased intraabdominal fat" ], "HP:0008994": [ "proximal muscle weakness in low limb", "proximal muscle weakness in lower limbs", "muscle weakness , proximal , low limb", "muscle weakness , proximal , lower limbs" ], "HP:0002455": [ "proximal muscle weakness in low limb", "proximal muscle weakness in lower limbs", "muscle weakness , proximal , low limb", "muscle weakness , proximal , lower limbs" ], "HP:0008941": [ "proximal muscle weakness in low limb", "proximal muscle weakness in lower limbs", "muscle weakness , proximal , low limb", "muscle weakness , proximal , lower limbs" ], "HP:0008997": [ "proximal muscle weakness in upper limb", "proximal muscle weakness in upper limbs" ], "HP:0008998": [ "pectoralis hypoplasia", "hypoplastic pectoral muscle", "small pec muscle", "underdeveloped pec muscle" ], "HP:0009002": [ "loss of truncal subcutaneous adipose tissue", "loss of fat tissue in trunk", "loss of subcutaneous truncal adipose tissue", "loss of truncal adipose tissue" ], "HP:0008989": [ "loss of truncal subcutaneous adipose tissue", "loss of fat tissue in trunk", "loss of subcutaneous truncal adipose tissue", "loss of truncal adipose tissue" ], "HP:0009003": [ "increase subcutaneous truncal adipose tissue", "increased subcutaneous truncal adipose tissue", "increase fat below the skin in trunk", "increased fat below the skin in trunk" ], "HP:0009004": [ "hypoplasia of the musculature", "muscle hypoplasia", "poorly develop skeletal musculature", "poorly developed skeletal musculature", "underdeveloped muscle", "underdeveloped muscles" ], "HP:0009034": [ "hypoplasia of the musculature", "muscle hypoplasia", "poorly develop skeletal musculature", "poorly developed skeletal musculature", "underdeveloped muscle", "underdeveloped muscles" ], "HP:0009005": [ "weakness of the intrinsic hand muscle", "weakness of the intrinsic hand muscles", "intrinsic hand muscle weakness" ], "HP:0009007": [ "biceps hypoplasia", "hypoplastic biceps", "underdeveloped biceps" ], "HP:0009011": [ "hypoplasia of serratus anterior muscle" ], "HP:0009013": [ "congenital absence of gluteal muscle", "congenital absence of gluteal muscles" ], "HP:0009016": [ "upper limb muscle hypoplasia", "underdevelopment of upper limb muscle", "underdevelopment of upper limb muscles" ], "HP:0009017": [ "loss of gluteal subcutaneous adipose tissue", "loss of fat tissue below the skin in glut", "loss of fat tissue below the skin in gluts" ], "HP:0009019": [ "progressive loss of facial adipose tissue", "atrophy of facial adipose tissue", "facial fat atrophy", "facial fat wasting", "loss of subcutaneous adipose tissue from face , progressive", "progressive loss of facial fat", "progressive loss of facial subcutaneous adipose tissue", "progressive loss of subcutaneous adipose tissue from face" ], "HP:0009020": [ "exercise - induced muscle fatigue" ], "HP:0009023": [ "abdominal wall muscle weakness", "lax abdominal musculature" ], "HP:0001546": [ "abdominal wall muscle weakness", "lax abdominal musculature" ], "HP:0004873": [ "abdominal wall muscle weakness", "lax abdominal musculature" ], "HP:0009025": [ "increase connective tissue", "increased connective tissue" ], "HP:0009026": [ "hypoplasia of latissimus dorsi muscle" ], "HP:0009027": [ "foot dorsiflexor weakness", "foot drop", "foot extensor weakness", "footdrop", "inability to heel walk", "inability to walk on heel", "inability to walk on heels" ], "HP:0003377": [ "foot dorsiflexor weakness", "foot drop", "foot extensor weakness", "footdrop", "inability to heel walk", "inability to walk on heel", "inability to walk on heels" ], "HP:0009028": [ "generalized weakness of limb muscle", "generalized weakness of limb muscles", "generalised weakness of limb muscle", "generalised weakness of limb muscles" ], "HP:0009031": [ "amyotrophy of ankle musculature" ], "HP:0009037": [ "segmental spinal muscular atrophy" ], "HP:0009042": [ "mark muscular hypertrophy", "marked muscular hypertrophy" ], "HP:0009044": [ "obsolete hypoplasia of deltoid muscle", "hypoplasia of deltoid muscle", "deltoid muscle hypoplasia" ], "HP:0009045": [ "exercise - induced rhabdomyolysis", "rhabdomyolysis with exercise" ], "HP:0009046": [ "difficulty run", "difficulty running" ], "HP:0009049": [ "peroneal muscle atrophy", "peroneal atrophy" ], "HP:0008939": [ "peroneal muscle atrophy", "peroneal atrophy" ], "HP:0008982": [ "peroneal muscle atrophy", "peroneal atrophy" ], "HP:0009050": [ "quadriceps muscle atrophy", "wasting of quad muscle", "wasting of quad muscles" ], "HP:0009051": [ "increase muscle glycogen content", "increased muscle glycogen content" ], "HP:0009053": [ "distal low limb muscle weakness", "distal lower limb muscle weakness", "distal muscle weakness in low limb", "distal muscle weakness in lower limbs", "muscle weakness , low limb , distal", "muscle weakness , lower limb , distal" ], "HP:0003485": [ "distal low limb muscle weakness", "distal lower limb muscle weakness", "distal muscle weakness in low limb", "distal muscle weakness in lower limbs", "muscle weakness , low limb , distal", "muscle weakness , lower limb , distal" ], "HP:0009035": [ "distal low limb muscle weakness", "distal lower limb muscle weakness", "distal muscle weakness in low limb", "distal muscle weakness in lower limbs", "muscle weakness , low limb , distal", "muscle weakness , lower limb , distal" ], "HP:0009054": [ "scapuloperoneal myopathy" ], "HP:0009055": [ "generalize limb muscle atrophy", "generalized limb muscle atrophy", "generalise limb muscle atrophy", "generalised limb muscle atrophy", "generalised muscle atrophy , proximal and distal", "generalised muscle waste", "generalised muscle wasting", "generalize muscle atrophy , proximal and distal", "generalized muscle atrophy , proximal and distal", "generalize muscle waste", "generalized muscle wasting" ], "HP:0003788": [ "generalize limb muscle atrophy", "generalized limb muscle atrophy", "generalise limb muscle atrophy", "generalised limb muscle atrophy", "generalised muscle atrophy , proximal and distal", "generalised muscle waste", "generalised muscle wasting", "generalize muscle atrophy , proximal and distal", "generalized muscle atrophy , proximal and distal", "generalize muscle waste", "generalized muscle wasting" ], "HP:0009056": [ "loss of subcutaneous adipose tissue from upper limb", "loss of subcutaneous adipose tissue from upper limbs", "loss of fat tissue below the skin from upper limb", "loss of fat tissue below the skin from upper limbs" ], "HP:0009058": [ "increase muscle lipid content", "increased muscle lipid content", "fat accumulation in muscle fiber", "fat accumulation in muscle fibers", "fat accumulation in muscle fibre", "fat accumulation in muscle fibres", "fat deposit in muscle fiber", "fat deposits in muscle fibers", "fat deposit in muscle fibre", "fat deposits in muscle fibres", "lipid accumulation in skeletal muscle", "muscle lipidosis", "skeletal muscle lipid accumulation" ], "HP:0100949": [ "increase muscle lipid content", "increased muscle lipid content", "fat accumulation in muscle fiber", "fat accumulation in muscle fibers", "fat accumulation in muscle fibre", "fat accumulation in muscle fibres", "fat deposit in muscle fiber", "fat deposits in muscle fibers", "fat deposit in muscle fibre", "fat deposits in muscle fibres", "lipid accumulation in skeletal muscle", "muscle lipidosis", "skeletal muscle lipid accumulation" ], "HP:0009059": [ "congenital generalize lipodystrophy", "congenital generalized lipodystrophy", "congenital generalise lipodystrophy", "congenital generalised lipodystrophy" ], "HP:0009060": [ "scapular muscle atrophy" ], "HP:0009062": [ "infantile axial hypotonia", "hypotonia , axial , in infancy" ], "HP:0009063": [ "progressive distal muscle weakness", "muscle weakness , distal , progressive", "muscle weakness , progressive , distal" ], "HP:0008933": [ "progressive distal muscle weakness", "muscle weakness , distal , progressive", "muscle weakness , progressive , distal" ], "HP:0009022": [ "progressive distal muscle weakness", "muscle weakness , distal , progressive", "muscle weakness , progressive , distal" ], "HP:0009057": [ "progressive distal muscle weakness", "muscle weakness , distal , progressive", "muscle weakness , progressive , distal" ], "HP:0009064": [ "generalize lipodystrophy", "generalized lipodystrophy", "generalise lipodystrophy", "generalised lipodystrophy", "lipodystrophy , generalise", "lipodystrophy , generalised", "lipodystrophy , generalize", "lipodystrophy , generalized" ], "HP:0008966": [ "generalize lipodystrophy", "generalized lipodystrophy", "generalise lipodystrophy", "generalised lipodystrophy", "lipodystrophy , generalise", "lipodystrophy , generalised", "lipodystrophy , generalize", "lipodystrophy , generalized" ], "HP:0009067": [ "progressive spinal muscular atrophy", "progressive spinal muscle degeneration", "progressive spinal muscle waste", "progressive spinal muscle wasting" ], "HP:0009069": [ "lethal infantile mitochondrial myopathy" ], "HP:0009071": [ "inflammatory myopathy" ], "HP:0009072": [ "decrease achilles reflex", "decreased achilles reflex", "hyporeflexia at ankle joint", "hyporeflexia at ankle joints" ], "HP:0009073": [ "progressive proximal muscle weakness", "muscle weakness , progressive , proximal" ], "HP:0008965": [ "progressive proximal muscle weakness", "muscle weakness , progressive , proximal" ], "HP:0009077": [ "weakness of long finger extensor muscle", "weakness of long finger extensor muscles" ], "HP:0009084": [ "midline notch of upper alveolar ridge", "midline cleft of maxillary alveolar process", "midline cleft of upper alveolar ridge", "midline notch of maxillary alveolar process", "midline notch of maxillary alveolar ridge", "midline notch of upper gum ridge" ], "HP:0009085": [ "alveolar ridge overgrowth", "alveolar ridge excess", "enlarge alveolar ridge", "enlarged alveolar ridge", "hyperplasia of alveolar process of jaw", "hyperplasia of alveolar ridge", "hypertrophy alveolar ridge", "hypertrophied alveolar ridge", "increase size of alveolar ridge", "increased size of alveolar ridge", "increase size of gum ridge", "increased size of gum ridge", "overgrowth of alveolar ridge", "overgrowth of gum ridge", "thick alveolar ridge", "thick alveolar ridges", "thicken alveolar ridge", "thickened alveolar ridges" ], "HP:0009078": [ "alveolar ridge overgrowth", "alveolar ridge excess", "enlarge alveolar ridge", "enlarged alveolar ridge", "hyperplasia of alveolar process of jaw", "hyperplasia of alveolar ridge", "hypertrophy alveolar ridge", "hypertrophied alveolar ridge", "increase size of alveolar ridge", "increased size of alveolar ridge", "increase size of gum ridge", "increased size of gum ridge", "overgrowth of alveolar ridge", "overgrowth of gum ridge", "thick alveolar ridge", "thick alveolar ridges", "thicken alveolar ridge", "thickened alveolar ridges" ], "HP:0009083": [ "alveolar ridge overgrowth", "alveolar ridge excess", "enlarge alveolar ridge", "enlarged alveolar ridge", "hyperplasia of alveolar process of jaw", "hyperplasia of alveolar ridge", "hypertrophy alveolar ridge", "hypertrophied alveolar ridge", "increase size of alveolar ridge", "increased size of alveolar ridge", "increase size of gum ridge", "increased size of gum ridge", "overgrowth of alveolar ridge", "overgrowth of gum ridge", "thick alveolar ridge", "thick alveolar ridges", "thicken alveolar ridge", "thickened alveolar ridges" ], "HP:0009087": [ "posteriorly place tongue", "posteriorly placed tongue" ], "HP:0009088": [ "speech articulation difficulty", "speech articulation difficulties" ], "HP:0009090": [ "obsolete facial diplegic appearance" ], "HP:0009092": [ "progressive alveolar ridge hypertropy", "increase overgrowth of gum ridge", "increasing overgrowth of gum ridge", "increase size of gum ridge", "increasing size of gum ridge", "progressive hypertrophy of alveolar process of jaw" ], "HP:0009094": [ "cleft low alveolar ridge", "cleft lower alveolar ridge", "cleft of low alveolar process", "cleft of lower alveolar process", "cleft of low gingiva", "cleft of lower gingiva", "cleft of low gum ridge", "cleft of lower gum ridge", "cleft of mandibular alveolar process", "cleft of mandibular gingiva", "notch of low alveolar process", "notch of lower alveolar process", "notch of low alveolar ridge", "notch of lower alveolar ridge", "notch of low gum ridge", "notch of lower gum ridge", "notch of mandibular alveolar process", "notch of mandibular alveolar ridge" ], "HP:0009098": [ "chronic oral candidiasis", "chronic oral thrush" ], "HP:0009099": [ "median cleft palate", "central cleft palate", "midline cleft palate" ], "HP:0009100": [ "thick anterior alveolar ridge", "thick anterior alveolar ridges", "thick anterior alveolar process of jaw" ], "HP:0009101": [ "submucous cleft lip", "submucous labial cleft" ], "HP:0009102": [ "anterior open - bite malocclusion", "absence of overlap of anterior upper and low teeth", "absence of overlap of anterior upper and lower teeth", "anterior open bite", "anterior open bite between upper and low teeth", "anterior open bite between upper and lower teeth", "anterior openbite", "apertognathia malocclusion", "gap between upper and low front teeth when bite", "gap between upper and lower front teeth when biting", "obsolete anterior open bite" ], "HP:0200095": [ "anterior open - bite malocclusion", "absence of overlap of anterior upper and low teeth", "absence of overlap of anterior upper and lower teeth", "anterior open bite", "anterior open bite between upper and low teeth", "anterior open bite between upper and lower teeth", "anterior openbite", "apertognathia malocclusion", "gap between upper and low front teeth when bite", "gap between upper and lower front teeth when biting", "obsolete anterior open bite" ], "HP:0009103": [ "aplasia / hypoplasia involve the pelvis", "aplasia / hypoplasia involving the pelvis", "absent / small pelvis", "absent / underdevelop pelvis", "absent / underdeveloped pelvis" ], "HP:0009104": [ "aplasia / hypoplasia of the pubic bone", "absent / small pubic bone", "absent / small pubic bones", "absent / underdevelop pubic bone", "absent / underdeveloped pubic bones", "hypoplastic / aplastic pubic bone", "hypoplastic / aplastic pubic bones" ], "HP:0008841": [ "aplasia / hypoplasia of the pubic bone", "absent / small pubic bone", "absent / small pubic bones", "absent / underdevelop pubic bone", "absent / underdeveloped pubic bones", "hypoplastic / aplastic pubic bone", "hypoplastic / aplastic pubic bones" ], "HP:0009105": [ "abnormal ossification of the pubic bone", "abnormal maturation of the pubic bone" ], "HP:0009106": [ "abnormal pelvis bone ossification", "abnormal maturation of the pelvis bone", "abnormal ossification involve the bone of the pelvis", "abnormal ossification involving the bones of the pelvis" ], "HP:0009107": [ "abnormal ossification involve the femoral head and neck", "abnormal ossification involving the femoral head and neck", "abnormal maturation of thigh bone head and neck" ], "HP:0009108": [ "aplasia / hypoplasia involve the femoral head and neck", "aplasia / hypoplasia involving the femoral head and neck", "absent / small head and neck of thighbone", "absent / underdeveloped head and neck of thighbone" ], "HP:0009109": [ "denervation of the diaphragm" ], "HP:0009110": [ "diaphragmatic eventration", "eventration of the diaphragm" ], "HP:0009114": [ "diaphragmatic eventration", "eventration of the diaphragm" ], "HP:0009112": [ "aplasia of the left hemidiaphragm", "absent leave hemidiaphragm", "absent left hemidiaphragm", "leave diaphragmatic hernia", "left diaphragmatic hernia", "obsolete aplasia of the left hemidiaphragm" ], "HP:0040048": [ "aplasia of the left hemidiaphragm", "absent leave hemidiaphragm", "absent left hemidiaphragm", "leave diaphragmatic hernia", "left diaphragmatic hernia", "obsolete aplasia of the left hemidiaphragm" ], "HP:0009113": [ "diaphragmatic weakness", "diaphragmatic paraparesis", "diminish diaphragmatic motion", "diminished diaphragmatic motion", "weak diaphragm" ], "HP:0005953": [ "diaphragmatic weakness", "diaphragmatic paraparesis", "diminish diaphragmatic motion", "diminished diaphragmatic motion", "weak diaphragm" ], "HP:0009111": [ "diaphragmatic weakness", "diaphragmatic paraparesis", "diminish diaphragmatic motion", "diminished diaphragmatic motion", "weak diaphragm" ], "HP:0009115": [ "aplasia / hypoplasia involve the skeleton", "aplasia / hypoplasia involving the skeleton", "absent / small skeleton", "absent / underdevelop skeleton", "absent / underdeveloped skeleton" ], "HP:0009116": [ "aplasia / hypoplasia involve bone of the skull", "aplasia / hypoplasia involving bones of the skull" ], "HP:0009117": [ "aplasia / hypoplasia of the maxilla", "underdevelopment of maxilla", "underdevelopment of upper jaw bone", "underdevelopment of upper jaw bones" ], "HP:0009118": [ "aplasia / hypoplasia of the mandible" ], "HP:0009119": [ "aplasia / hypoplasia of the frontal sinus", "aplasia / hypoplasia of the frontal sinuses", "abnormally small frontal sinus" ], "HP:0009120": [ "aplasia / hypoplasia involve the sinus", "aplasia / hypoplasia involving the sinuses" ], "HP:0009121": [ "abnormal axial skeleton morphology", "abnormality of the axial skeleton" ], "HP:0009122": [ "aplasia / hypoplasia affect bone of the axial skeleton", "aplasia / hypoplasia affecting bones of the axial skeleton" ], "HP:0009123": [ "mixed hypo - and hyperpigmentation of the skin" ], "HP:0009124": [ "abnormal adipose tissue morphology", "abnormality of adipose tissue", "abnormality of fat tissue", "abnormality of fatty tissue" ], "HP:0009125": [ "lipodystrophy", "inability to make and keep healthy fat tissue" ], "HP:0009126": [ "increase adipose tissue", "increased adipose tissue", "increase fat tissue", "increased fat tissue" ], "HP:0009127": [ "abnormality of the musculature of the limb", "abnormality of the musculature of the limbs", "abnormal limb muscle", "abnormal limb muscles", "muscle issue in the arm and / or leg", "muscle issues in the arms and / or legs" ], "HP:0009128": [ "aplasia / hypoplasia involve the musculature of the extremity", "aplasia / hypoplasia involving the musculature of the extremities", "absent / small muscle of extremity", "absent / small muscles of extremities", "absent / underdevelop muscle of extremity", "absent / underdeveloped muscles of extremities" ], "HP:0009129": [ "upper limb amyotrophy", "amyotrophy involve the upper limb", "amyotrophy involving the upper limbs" ], "HP:0003471": [ "upper limb amyotrophy", "amyotrophy involve the upper limb", "amyotrophy involving the upper limbs" ], "HP:0009130": [ "hand muscle atrophy", "amyotrophy involve the musculature of the hand", "amyotrophy involving the musculature of the hand", "amyotrophy of hand muscle", "amyotrophy of hand muscles", "hand muscle degeneration", "hand muscle wasting", "hand muscle wasting , bilateral" ], "HP:0006967": [ "hand muscle atrophy", "amyotrophy involve the musculature of the hand", "amyotrophy involving the musculature of the hand", "amyotrophy of hand muscle", "amyotrophy of hand muscles", "hand muscle degeneration", "hand muscle wasting", "hand muscle wasting , bilateral" ], "HP:0008934": [ "hand muscle atrophy", "amyotrophy involve the musculature of the hand", "amyotrophy involving the musculature of the hand", "amyotrophy of hand muscle", "amyotrophy of hand muscles", "hand muscle degeneration", "hand muscle wasting", "hand muscle wasting , bilateral" ], "HP:0008951": [ "hand muscle atrophy", "amyotrophy involve the musculature of the hand", "amyotrophy involving the musculature of the hand", "amyotrophy of hand muscle", "amyotrophy of hand muscles", "hand muscle degeneration", "hand muscle wasting", "hand muscle wasting , bilateral" ], "HP:0009038": [ "hand muscle atrophy", "amyotrophy involve the musculature of the hand", "amyotrophy involving the musculature of the hand", "amyotrophy of hand muscle", "amyotrophy of hand muscles", "hand muscle degeneration", "hand muscle wasting", "hand muscle wasting , bilateral" ], "HP:0009131": [ "abnormality of the musculature of the thorax" ], "HP:0009132": [ "abnormal tarsal bone mineral density", "abnormality of bone mineral density involve tarsal bone", "abnormality of bone mineral density involving tarsal bones" ], "HP:0009134": [ "osteolysis involve bone of the foot", "osteolysis involving bones of the feet" ], "HP:0009136": [ "duplication involve bone of the foot", "duplication involving bones of the feet" ], "HP:0009138": [ "synostosis involve bone of the low limb", "synostosis involving bones of the lower limbs", "fusion involve the bone of the low limb", "fusion involving the bones of the lower limbs" ], "HP:0009139": [ "osteolysis involve bone of the low limb", "osteolysis involving bones of the lower limbs" ], "HP:0009140": [ "synostosis involve bone of the foot", "synostosis involving bones of the feet", "fusion involve the bone of the foot", "fusion involving the bones of the feet" ], "HP:0009141": [ "depletion of mitochondrial dna in muscle tissue", "depletion of mitochondrial dna in skeletal muscle tissue" ], "HP:0009070": [ "depletion of mitochondrial dna in muscle tissue", "depletion of mitochondrial dna in skeletal muscle tissue" ], "HP:0009142": [ "duplication of bone involve the upper extremity", "duplication of bones involving the upper extremities" ], "HP:0009144": [ "supernumerary bone of the axial skeleton", "supernumerary bones of the axial skeleton" ], "HP:0009145": [ "abnormal cerebral artery morphology", "abnormality of cerebral artery", "abnormality of the cerebral artery", "abnormality of the cerebral arteries" ], "HP:0009147": [ "enlarged epiphysis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0009148": [ "small epiphysis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0009149": [ "triangular 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 pinkie finger", "triangular end part of the outermost bone of pinky finger" ], "HP:0009137": [ "triangular 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 pinkie finger", "triangular end part of the outermost bone of pinky finger" ], "HP:0009150": [ "abnormality of the proximal phalanx of the 5th finger", "abnormality of the innermost bone little finger", "abnormality of the innermost bone pinkie finger", "abnormality of the innermost bone pinky finger" ], "HP:0009152": [ "abnormality of the epiphysis of the 5th finger", "abnormality of the epiphyses of the 5th finger", "abnormality of end part of little finger bone", "abnormality of end part of pinkie finger bone", "abnormality of end part of pinky finger bone" ], "HP:0009153": [ "abnormality of the epiphysis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009154": [ "triangular 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 pinkie finger", "triangular end part of the innermost bone of pinky finger" ], "HP:0009156": [ "triangular 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 pinkie finger", "triangular end part of the innermost bone of pinky finger" ], "HP:0009155": [ "cone - 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 pinkie finger", "cone - shaped end part of the innermost bone of pinky finger", "cone - shaped epiphysis of the proximal phalanx of the little finger" ], "HP:0009157": [ "ivory epiphysis of the proximal phalanx of the 5th 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 little 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 pinkie finger", "increase bone density of end part of the innermost bone of pinky finger", "increased bone density of end part of the innermost bone of pinky finger", "ivory epiphysis of the proximal phalanx of the little finger" ], "HP:0009158": [ "enlarged epiphysis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009159": [ "small epiphysis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009160": [ "absent epiphysis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009161": [ "aplasia / hypoplasia of the middle phalanx of the 5th finger", "absent / hypoplastic middle phalanx of 5th finger", "absent / small middle bone of pinky finger", "absent / underdevelop middle bone of little finger", "absent / underdeveloped middle bone of little finger", "absent / underdevelop middle bone of pinkie finger", "absent / underdeveloped middle bone of pinkie finger", "absent / underdevelop middle bone of pinky finger", "absent / underdeveloped middle bone of pinky finger" ], "HP:0006242": [ "aplasia / hypoplasia of the middle phalanx of the 5th finger", "absent / hypoplastic middle phalanx of 5th finger", "absent / small middle bone of pinky finger", "absent / underdevelop middle bone of little finger", "absent / underdeveloped middle bone of little finger", "absent / underdevelop middle bone of pinkie finger", "absent / underdeveloped middle bone of pinkie finger", "absent / underdevelop middle bone of pinky finger", "absent / underdeveloped middle bone of pinky finger" ], "HP:0009162": [ "absent middle phalanx of 5th finger", "absent middle bone of little finger", "absent middle bone of pinkie finger", "absent middle bone of pinky finger", "aplasia of the middle phalanx of the 5th finger" ], "HP:0005774": [ "absent middle phalanx of 5th finger", "absent middle bone of little finger", "absent middle bone of pinkie finger", "absent middle bone of pinky finger", "aplasia of the middle phalanx of the 5th finger" ], "HP:0009163": [ "obsolete abnormal form of the 5th finger" ], "HP:0009164": [ "abnormal calcification of the carpal bone", "abnormal calcification of the carpal bones", "abnormal calcification of the wrist bone", "abnormal calcification of the wrist bones", "carpal calcification", "carpal calcifications" ], "HP:0006154": [ "abnormal calcification of the carpal bone", "abnormal calcification of the carpal bones", "abnormal calcification of the wrist bone", "abnormal calcification of the wrist bones", "carpal calcification", "carpal calcifications" ], "HP:0009165": [ "stippling of the epiphysis of the distal phalanx of the 5th finger", "speckled calcification in end part of the outermost bone of little finger", "speckled calcifications in end part of the outermost bone of little finger", "speckled calcification in end part of the outermost bone of pinkie finger", "speckled calcifications in end part of the outermost bone of pinkie finger", "speckled calcification in end part of the outermost bone of pinky finger", "speckled calcifications in end part of the outermost bone of pinky finger" ], "HP:0009166": [ "fragmentation of the epiphysis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0009167": [ "irregular epiphysis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0009168": [ "bullet - shape middle phalanx of the 5th finger", "bullet - shaped middle phalanx of the 5th finger", "bullet - shape middle little finger bone", "bullet - shaped middle little finger bone", "bullet - shape middle pinkie finger bone", "bullet - shaped middle pinkie finger bone", "bullet - shape middle pinky finger bone", "bullet - shaped middle pinky finger bone" ], "HP:0009169": [ "broad middle phalanx of the 5th finger", "broad middle bone of little finger", "broad middle bone of pinkie finger", "broad middle bone of pinky finger", "wide middle phalanx of the 5th finger" ], "HP:0009170": [ "osteolytic defect of the middle phalanx of the 5th finger", "osteolytic defects of the middle phalanx of the 5th finger" ], "HP:0009171": [ "triangular epiphysis of the metacarpal", "triangular epiphyses of the metacarpals", "triangular end part of the long bone of hand" ], "HP:0009172": [ "abnormal 4th finger phalanx morphology", "abnormal bone of 4th finger", "abnormal bones of 4th finger", "abnormality of the phalanx of the ring finger", "abnormality of the phalanges of the ring finger" ], "HP:0004191": [ "abnormal 4th finger phalanx morphology", "abnormal bone of 4th finger", "abnormal bones of 4th finger", "abnormality of the phalanx of the ring finger", "abnormality of the phalanges of the ring finger" ], "HP:0009173": [ "curve middle phalanx of the 5th finger", "curved middle phalanx of the 5th finger", "curve middle bone of little finger", "curved middle bone of little finger", "curve middle bone of pinkie finger", "curved middle bone of pinkie finger", "curve middle bone of pinky finger", "curved middle bone of pinky finger" ], "HP:0009174": [ "abnormality of the epiphysis of the 4th finger", "abnormality of the epiphyses of the 4th finger", "abnormality of the end part of the ring finger" ], "HP:0009175": [ "patchy sclerosis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009177": [ "proximal / middle symphalangism of 5th finger", "fuse innermost and middle bone of little finger", "fused innermost and middle bones of little finger", "fuse innermost and middle bone of pinkie finger", "fused innermost and middle bones of pinkie finger", "fuse innermost and middle bone of pinky finger", "fused innermost and middle bones of pinky finger", "proximal 5th finger symphalangism", "proximal fifth finger symphalangism", "symphalangism of the proximal and middle phalanx of the 5th finger", "symphalangism of the proximal and middle phalanges of the 5th finger" ], "HP:0005835": [ "proximal / middle symphalangism of 5th finger", "fuse innermost and middle bone of little finger", "fused innermost and middle bones of little finger", "fuse innermost and middle bone of pinkie finger", "fused innermost and middle bones of pinkie finger", "fuse innermost and middle bone of pinky finger", "fused innermost and middle bones of pinky finger", "proximal 5th finger symphalangism", "proximal fifth finger symphalangism", "symphalangism of the proximal and middle phalanx of the 5th finger", "symphalangism of the proximal and middle phalanges of the 5th finger" ], "HP:0006025": [ "proximal / middle symphalangism of 5th finger", "fuse innermost and middle bone of little finger", "fused innermost and middle bones of little finger", "fuse innermost and middle bone of pinkie finger", "fused innermost and middle bones of pinkie finger", "fuse innermost and middle bone of pinky finger", "fused innermost and middle bones of pinky finger", "proximal 5th finger symphalangism", "proximal fifth finger symphalangism", "symphalangism of the proximal and middle phalanx of the 5th finger", "symphalangism of the proximal and middle phalanges of the 5th finger" ], "HP:0009235": [ "proximal / middle symphalangism of 5th finger", "fuse innermost and middle bone of little finger", "fused innermost and middle bones of little finger", "fuse innermost and middle bone of pinkie finger", "fused innermost and middle bones of pinkie finger", "fuse innermost and middle bone of pinky finger", "fused innermost and middle bones of pinky finger", "proximal 5th finger symphalangism", "proximal fifth finger symphalangism", "symphalangism of the proximal and middle phalanx of the 5th finger", "symphalangism of the proximal and middle phalanges of the 5th finger" ], "HP:0009178": [ "symphalangism of middle phalanx of 5th finger", "fuse middle bone of little finger", "fused middle bones of little finger", "fuse middle bone of pinkie finger", "fused middle bones of pinkie finger", "fuse middle bone of pinky finger", "fused middle bones of pinky finger" ], "HP:0009179": [ "deviation of the 5th finger", "displace little finger", "displaced little finger", "displace pinkie finger", "displaced pinkie finger", "displace pinky finger", "displaced pinky finger", "laterally displace fifth finger", "laterally displaced fifth finger" ], "HP:0006036": [ "deviation of the 5th finger", "displace little finger", "displaced little finger", "displace pinkie finger", "displaced pinkie finger", "displace pinky finger", "displaced pinky finger", "laterally displace fifth finger", "laterally displaced fifth finger" ], "HP:0009180": [ "ulnar deviation of the 5th finger" ], "HP:0009182": [ "triangular shape middle phalanx of the 5th finger", "triangular shaped middle phalanx of the 5th finger", "triangular shape middle little finger bone", "triangular shaped middle little finger bone", "triangular shape middle pinkie finger bone", "triangular shaped middle pinkie finger bone", "triangular shape middle pinky finger bone", "triangular shaped middle pinky finger bone" ], "HP:0009183": [ "joint contracture of the 5th finger", "5th finger camptodactyly", "fifth finger camptodactyly" ], "HP:0001184": [ "joint contracture of the 5th finger", "5th finger camptodactyly", "fifth finger camptodactyly" ], "HP:0009184": [ "contracture of the distal interphalangeal joint of the 5th finger" ], "HP:0009185": [ "contracture of the proximal interphalangeal joint of the 5th finger" ], "HP:0005047": [ "contracture of the proximal interphalangeal joint of the 5th finger" ], "HP:0006062": [ "contracture of the proximal interphalangeal joint of the 5th finger" ], "HP:0009186": [ "contracture of the metacarpophalangeal joint of the 5th finger" ], "HP:0009187": [ "bracket epiphysis of the distal phalanx of the 5th finger", "bracket shape end part of the outermost little finger bone", "bracket shaped end part of the outermost little finger bone", "bracket shape end part of the outermost pinkie finger bone", "bracket shaped end part of the outermost pinkie finger bone", "bracket shape end part of the outermost pinky finger bone", "bracket shaped end part of the outermost pinky finger bone" ], "HP:0009188": [ "pseudoepiphysis of the distal phalanx of the 5th finger" ], "HP:0009189": [ "fragmentation of the metacarpal epiphysis", "fragmentation of the metacarpal epiphyses", "fragmentation of end part of the long bone of hand" ], "HP:0009190": [ "irregular epiphysis of the metacarpal", "irregular epiphyses of the metacarpals", "irregular end part of the long bone of hand" ], "HP:0009191": [ "ivory epiphysis of the metacarpal", "ivory epiphyses of the metacarpals", "increase bone density of end part of the long bone of hand", "increased bone density of end part of the long bone of hands" ], "HP:0009192": [ "aplasia / hypoplasia of the proximal phalanx of the 5th finger", "absent / small innermost little finger bone", "absent / small innermost pinkie finger bone", "absent / small innermost pinky finger bone", "absent / underdevelop innermost pinky finger bone", "absent / underdeveloped innermost pinky finger bone" ], "HP:0009193": [ "pseudoepiphyses of the metacarpal", "pseudoepiphyses of the metacarpals", "accessory proximal metacarpal ossification center", "accessory proximal metacarpal ossification centers", "accessory proximal metacarpal ossification centre", "accessory proximal metacarpal ossification centres", "metacarpal pseudoepiphyses" ], "HP:0006091": [ "pseudoepiphyses of the metacarpal", "pseudoepiphyses of the metacarpals", "accessory proximal metacarpal ossification center", "accessory proximal metacarpal ossification centers", "accessory proximal metacarpal ossification centre", "accessory proximal metacarpal ossification centres", "metacarpal pseudoepiphyses" ], "HP:0006164": [ "pseudoepiphyses of the metacarpal", "pseudoepiphyses of the metacarpals", "accessory proximal metacarpal ossification center", "accessory proximal metacarpal ossification centers", "accessory proximal metacarpal ossification centre", "accessory proximal metacarpal ossification centres", "metacarpal pseudoepiphyses" ], "HP:0009194": [ "small epiphysis of the metacarpal", "small epiphyses of the metacarpals", "small end part of the long bone of hand" ], "HP:0009195": [ "epiphyseal stippling of the metacarpal", "epiphyseal stippling of the metacarpals", "speckled calcification in end part of the long bone of hand", "speckled calcifications in end part of the long bone of hand", "stippling of the epiphysis of the metacarpal", "stippling of the epiphyses of the metacarpals" ], "HP:0009196": [ "absent metacarpal epiphysis", "absent metacarpal epiphyses", "absent end part of the long bone of hand", "absent metacarpal ossification center", "absent metacarpal ossification centre" ], "HP:0006013": [ "absent metacarpal epiphysis", "absent metacarpal epiphyses", "absent end part of the long bone of hand", "absent metacarpal ossification center", "absent metacarpal ossification centre" ], "HP:0009197": [ "bracket epiphysis of the proximal phalanx of the 5th finger", "bracket shape end part of the innermost bone of the little finger", "bracket shaped end part of the innermost bone of the little finger", "bracket shape end part of the innermost bone of the pinkie finger", "bracket shaped end part of the innermost bone of the pinkie finger", "bracket shape end part of the innermost bone of the pinky finger", "bracket shaped end part of the innermost bone of the pinky finger" ], "HP:0009198": [ "abnormality of the epiphysis of the distal phalanx of the 5th 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 pinky finger", "abnormality of the epiphysis of the terminal phalanx of the little finger" ], "HP:0004228": [ "abnormality of the epiphysis of the distal phalanx of the 5th 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 pinky finger", "abnormality of the epiphysis of the terminal phalanx of the little finger" ], "HP:0009199": [ "irregular epiphysis of the proximal phalanx of the 5th finger", "irregular end part of the innermost little finger bone", "irregular end part of the innermost pinkie finger bone", "irregular end part of the innermost pinky finger bone" ], "HP:0009200": [ "pseudoepiphysis of the proximal phalanx of the 5th finger" ], "HP:0009201": [ "stippling of the epiphysis of the proximal phalanx of the 5th 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 little 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 pinkie finger", "speckled calcification in end part of the innnermost bone of the pinky finger", "speckled calcifications in end part of the innnermost bone of the pinky finger" ], "HP:0009202": [ "fragmentation of the epiphysis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009203": [ "absent epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009204": [ "bracket epiphysis of the middle phalanx of the 5th finger", "bracket shape end part of the middle bone of the little finger", "bracket shaped end part of the middle bone of the little finger", "bracket shape end part of the middle bone of the pinkie finger", "bracket shaped end part of the middle bone of the pinkie finger", "bracket shape end part of the middle bone of the pinky finger", "bracket shaped end part of the middle bone of the pinky finger" ], "HP:0009205": [ "cone - shaped epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009206": [ "enlarged epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009207": [ "fragmentation of the epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009208": [ "irregular epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009209": [ "ivory epiphysis of the middle phalanx of the 5th 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 little 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 pinkie finger", "increase bone density of end part of the middle bone of pinky finger", "increased bone density of end part of the middle bone of pinky finger" ], "HP:0009210": [ "pseudoepiphysis of the middle phalanx of the 5th finger" ], "HP:0009211": [ "small epiphysis of the middle phalanx of the 5th 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 pinky finger" ], "HP:0009212": [ "stippling of the epiphysis of the middle phalanx of the 5th 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 little 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 pinkie finger", "speckled calcification in end part of the middle bone of the pinky finger", "speckled calcifications in end part of the middle bone of the pinky finger" ], "HP:0009213": [ "triangular 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 pinkie finger", "triangular end part of the middle bone of the pinky finger" ], "HP:0009214": [ "absent epiphysis of the middle phalanx of the 4th finger", "absent end part of the middle bone of the ring finger" ], "HP:0009215": [ "bracket epiphysis of the middle phalanx of the 4th finger", "bracket shape end part of the middle bone of the ring finger", "bracket shaped end part of the middle bone of the ring finger" ], "HP:0009216": [ "cone - shaped epiphysis of the middle phalanx of the 4th finger", "cone - shaped end part of the middle bone of the ring finger" ], "HP:0009217": [ "enlarged epiphysis of the middle phalanx of the 4th finger", "enlarged end part of the middle bone of the ring finger" ], "HP:0009218": [ "fragmentation of the epiphysis of the middle phalanx of the 4th finger", "fragmentation of end part of the middle bone of the ring finger" ], "HP:0009219": [ "irregular epiphysis of the middle phalanx of the 4th finger", "irregular end part of the middle bone of the ring finger" ], "HP:0009220": [ "ivory epiphysis of the middle phalanx of the 4th finger", "increase bone density of end part of the middle ring finger bone", "increased bone density of end part of the middle ring finger bone" ], "HP:0009221": [ "pseudoepiphysis of the middle phalanx of the 4th finger" ], "HP:0009222": [ "small epiphysis of the middle phalanx of the 4th finger", "small end part of the middle bone of the ring finger" ], "HP:0009223": [ "stippling of the epiphysis of the middle phalanx of the 4th finger", "speckled calcification in end part of the middle bone of the ring finger", "speckled calcifications in end part of the middle bone of the ring finger" ], "HP:0009224": [ "triangular 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" ], "HP:0009225": [ "aplasia of the proximal phalanx of the 5th finger", "absent innermost bone of little finger", "absent innermost bone of pinkie finger", "absent innermost bone of pinky finger" ], "HP:0009226": [ "short proximal phalanx of the 5th finger", "hypoplastic / small proximal phalanx of the 5th finger", "short innermost little finger bone", "short innermost pinkie finger bone", "short innermost pinky finger bone", "short proximal phalanx of the fifth finger" ], "HP:0009227": [ "broad proximal phalanx of the 5th finger", "broad innermost little finger bone", "broad innermost pinkie finger bone", "broad innermost pinky finger bone", "wide proximal phalanx of the 5th finger" ], "HP:0009228": [ "bullet - shape proximal phalanx of the 5th finger", "bullet - shaped proximal phalanx of the 5th finger", "bullet - shape innermost little finger bone", "bullet - shaped innermost little finger bone", "bullet - shape innermost pinkie finger bone", "bullet - shaped innermost pinkie finger bone", "bullet - shape innermost pinky finger bone", "bullet - shaped innermost pinky finger bone" ], "HP:0009229": [ "curve proximal phalanx of the 5th finger", "curved proximal phalanx of the 5th finger", "curve innermost bone of little finger", "curved innermost bone of little finger", "curve innermost bone of pinkie finger", "curved innermost bone of pinkie finger", "curve innermost bone of pinky finger", "curved innermost bone of pinky finger" ], "HP:0009230": [ "osteolytic defect of the proximal phalanx of the 5th finger", "osteolytic defects of the proximal phalanx of the 5th finger" ], "HP:0009231": [ "patchy sclerosis of the proximal phalanx of the 5th 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 pinky finger" ], "HP:0009232": [ "symphalangism affect the proximal phalanx of the 5th finger", "symphalangism affecting the proximal phalanx of the 5th finger", "fuse innermost bone of little finger", "fused innermost bone of little finger", "fuse innermost bone of pinkie finger", "fused innermost bone of pinkie finger", "fuse innermost bone of pinky finger", "fused innermost bone of pinky finger" ], "HP:0009233": [ "triangular shape proximal phalanx of the 5th finger", "triangular shaped proximal phalanx of the 5th finger", "triangular shape innermost little finger bone", "triangular shaped innermost little finger bone", "triangular shape innermost pinkie finger bone", "triangular shaped innermost pinkie finger bone", "triangular shape innermost pinky finger bone", "triangular shaped innermost pinky finger bone" ], "HP:0009234": [ "symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal", "fuse innermost bone of little finger with 5th long bone of hand", "fused innermost bone of little finger with 5th long bone of hand", "fuse innermost bone of pinkie finger with 5th long bone of hand", "fused innermost bone of pinkie finger with 5th long bone of hand", "fuse innermost bone of pinky finger with 5th long bone of hand", "fused innermost bone of pinky finger with 5th long bone of hand" ], "HP:0009236": [ "rhomboid or triangular shape 5th finger proximal phalanx", "rhomboid or triangular shaped 5th finger proximal phalanx", "rhomboid or triangular shape innermost bone of little finger", "rhomboid or triangular shaped innermost bone of little finger", "rhomboid or triangular shape innermost bone of pinkie finger", "rhomboid or triangular shaped innermost bone of pinkie finger", "rhomboid or triangular shape innermost bone of pinky finger", "rhomboid or triangular shaped innermost bone of pinky finger" ], "HP:0009237": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0001205": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0004208": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0004210": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0004211": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0004215": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0004217": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0005804": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0005888": [ "short 5th finger", "fifth finger brachydactyly", "hypoplastic phalanx of the little finger", "hypoplastic phalanges of the little finger", "hypoplastic / small 5th finger", "hypoplastic / small little finger", "short fifth finger", "short fifth fingers", "short little finger", "short phalanx of the little finger", "short phalanges of the little finger", "short pinkie finger", "short pinky finger" ], "HP:0009238": [ "aplasia of the 5th finger", "absent little finger", "absent pinkie finger", "absent pinky finger" ], "HP:0009239": [ "aplasia / hypoplasia of the distal phalanx of the 5th finger", "absent / small outermost bone of little finger", "absent / small outermost bone of pinkie finger", "absent / small outermost bone of pinky finger", "absent / underdevelop outermost bone of pinky finger", "absent / underdeveloped outermost bone of pinky finger" ], "HP:0009240": [ "broad distal phalanx of the 5th finger", "broad outermost little finger bone", "broad outermost pinkie finger bone", "broad outermost pinky finger bone", "wide outermost pinky finger bone" ], "HP:0009241": [ "bullet - shaped distal phalanx of the 5th finger", "bullet - shape outermost little finger bone", "bullet - shaped outermost little finger bone", "bullet - shape outermost pinkie finger bone", "bullet - shaped outermost pinkie finger bone", "bullet - shape outermost pinky finger bone", "bullet - shaped outermost pinky finger bone" ], "HP:0009242": [ "osteolytic defect of the distal phalanx of the 5th finger", "osteolytic defects of the distal phalanx of the 5th finger" ], "HP:0009243": [ "patchy sclerosis of the distal phalanx of the 5th 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 pinky finger" ], "HP:0009244": [ "distal / middle symphalangism of 5th finger", "fifth finger distal interphalangeal joint symphalangism", "fused end and middle bone of little finger", "fused end and middle bones of little finger", "fused end and middle bone of pinkie finger", "fused end and middle bones of pinkie finger", "fused end and middle bone of pinky finger", "fused end and middle bones of pinky finger", "fusion of the terminal and middle phalanx of the 5th finger", "fusion of the terminal and middle phalanges of the 5th finger", "symphalangism of the distal and middle phalanx of the 5th finger", "symphalangism of the distal and middle phalanges of the 5th finger", "symphalangism of the terminal and middle phalanx of the 5th finger", "symphalangism of the terminal and middle phalanges of the 5th finger" ], "HP:0006250": [ "distal / middle symphalangism of 5th finger", "fifth finger distal interphalangeal joint symphalangism", "fused end and middle bone of little finger", "fused end and middle bones of little finger", "fused end and middle bone of pinkie finger", "fused end and middle bones of pinkie finger", "fused end and middle bone of pinky finger", "fused end and middle bones of pinky finger", "fusion of the terminal and middle phalanx of the 5th finger", "fusion of the terminal and middle phalanges of the 5th finger", "symphalangism of the distal and middle phalanx of the 5th finger", "symphalangism of the distal and middle phalanges of the 5th finger", "symphalangism of the terminal and middle phalanx of the 5th finger", "symphalangism of the terminal and middle phalanges of the 5th finger" ], "HP:0009176": [ "distal / middle symphalangism of 5th finger", "fifth finger distal interphalangeal joint symphalangism", "fused end and middle bone of little finger", "fused end and middle bones of little finger", "fused end and middle bone of pinkie finger", "fused end and middle bones of pinkie finger", "fused end and middle bone of pinky finger", "fused end and middle bones of pinky finger", "fusion of the terminal and middle phalanx of the 5th finger", "fusion of the terminal and middle phalanges of the 5th finger", "symphalangism of the distal and middle phalanx of the 5th finger", "symphalangism of the distal and middle phalanges of the 5th finger", "symphalangism of the terminal and middle phalanx of the 5th finger", "symphalangism of the terminal and middle phalanges of the 5th finger" ], "HP:0009245": [ "triangular shape distal phalanx of the 5th finger", "triangular shaped distal phalanx of the 5th finger", "triangular shape outermost little finger bone", "triangular shaped outermost little finger bone", "triangular shape outermost pinkie finger bone", "triangular shaped outermost pinkie finger bone", "triangular shape outermost pinky finger bone", "triangular shaped outermost pinky finger bone" ], "HP:0009246": [ "aplasia of the distal phalanx of the 5th finger", "absent outermost little finger bone", "absent outermost pinkie finger bone", "absent outermost pinky finger bone" ], "HP:0009247": [ "abnormality of the epiphysis of the middle phalanx of the 4th finger", "abnormality of the end part of the middle bone of the ring finger" ], "HP:0009248": [ "abnormality of the epiphysis of the proximal phalanx of the 4th finger", "abnormality of the end part of the innermost bone of the ring finger" ], "HP:0009249": [ "abnormality of the epiphysis of the distal phalanx of the 4th finger", "abnormality of the end part of the outermost bone of the ring finger" ], "HP:0009250": [ "absent epiphysis of the distal phalanx of the 4th finger", "absent end part of the outermost bone of the ring finger" ], "HP:0009251": [ "bracket epiphysis of the distal phalanx of the 4th finger", "bracket shape end part of the outermost bone of the ring finger", "bracket shaped end part of the outermost bone of the ring finger" ], "HP:0009252": [ "cone - shaped epiphysis of the distal phalanx of the 4th finger", "cone - shaped end part of the outermost bone of the ring finger" ], "HP:0009253": [ "enlarged epiphysis of the distal phalanx of the 4th finger", "enlarged end part of the outermost bone of the ring finger" ], "HP:0009254": [ "fragmentation of the epiphysis of the distal phalanx of the 4th finger", "fragmentation of end part of the outermost bone of the ring finger" ], "HP:0009255": [ "irregular epiphysis of the distal phalanx of the 4th finger", "irregular end part of the outermost bone of the ring finger" ], "HP:0009256": [ "ivory epiphysis of the distal phalanx of the 4th finger", "increase bone density of end part of the outermost ring finger bone", "increased bone density of end part of the outermost ring finger bone" ], "HP:0009257": [ "pseudoepiphysis of the distal phalanx of the 4th finger" ], "HP:0009258": [ "small epiphysis of the distal phalanx of the 4th finger", "small end part of the outermost bone of the ring finger" ], "HP:0009259": [ "stippling of the epiphysis of the distal phalanx of the 4th finger", "speckled calcification in the end part of the outermost bone of the ring finger", "speckled calcifications in the end part of the outermost bone of the ring finger" ], "HP:0009260": [ "triangular 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" ], "HP:0009261": [ "absent epiphysis of the proximal phalanx of the 4th finger", "absent end part of the innermost bone of the ring finger" ], "HP:0009262": [ "bracket epiphysis of the proximal phalanx of the 4th finger", "bracket proximal epiphysis of the ring finger", "bracket shape end part of the innermost bone of the ring finger", "bracket shaped end part of the innermost bone of the ring finger" ], "HP:0004200": [ "bracket epiphysis of the proximal phalanx of the 4th finger", "bracket proximal epiphysis of the ring finger", "bracket shape end part of the innermost bone of the ring finger", "bracket shaped end part of the innermost bone of the ring finger" ], "HP:0009263": [ "cone - shaped epiphysis of the proximal phalanx of the 4th finger", "cone - shaped end part of the innermost bone of the ring finger" ], "HP:0009264": [ "enlarged epiphysis of the proximal phalanx of the 4th finger", "enlarged end part of the innermost bone of the ring finger" ], "HP:0009265": [ "fragmentation of the epiphysis of the proximal phalanx of the 4th finger", "fragmentation of end part of the innermost bone of the ring finger" ], "HP:0009266": [ "irregular epiphysis of the proximal phalanx of the 4th finger", "irregular end part of the innermost bone of the ring finger" ], "HP:0009267": [ "ivory epiphysis of the proximal phalanx of the 4th finger", "increase bone density of end part of the innermost ring finger bone", "increased bone density of end part of the innermost ring finger bone" ], "HP:0009268": [ "pseudoepiphysis of the proximal phalanx of the 4th finger" ], "HP:0009269": [ "small epiphysis of the proximal phalanx of the 4th finger", "small end part of the innermost bone of the ring finger" ], "HP:0009270": [ "stippling of the epiphysis of the proximal phalanx of the 4th finger", "speckled calcification in end part of the innermost bone of ring finger", "speckled calcifications in end part of the innermost bone of ring finger" ], "HP:0009271": [ "triangular 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" ], "HP:0009272": [ "aplasia / hypoplasia of the 4th finger", "absent / small ring finger bone", "absent / underdevelop ring finger bone", "absent / underdeveloped ring finger bone" ], "HP:0009273": [ "deviation of the 4th finger", "deviation of the ring finger" ], "HP:0009274": [ "joint contracture of the 4th finger", "joint contracture of the fourth finger", "joint contractures of the fourth finger" ], "HP:0004189": [ "joint contracture of the 4th finger", "joint contracture of the fourth finger", "joint contractures of the fourth finger" ], "HP:0009275": [ "contracture of the distal interphalangeal joint of the 4th finger" ], "HP:0009276": [ "contracture of the proximal interphalangeal joint of the 4th finger", "4th finger camptodactyly", "camptodactyly of the 4th finger", "camptodactyly of the ring finger" ], "HP:0005845": [ "contracture of the proximal interphalangeal joint of the 4th finger", "4th finger camptodactyly", "camptodactyly of the 4th finger", "camptodactyly of the ring finger" ], "HP:0009277": [ "contracture of the metacarpophalangeal joint of the 4th finger" ], "HP:0009278": [ "ulnar deviation of the 4th finger", "ulnar deviation of the ring finger" ], "HP:0009279": [ "radial deviation of the 4th finger", "radial deviation of the ring finger" ], "HP:0009280": [ "short 4th finger", "hypoplastic / small 4th finger", "short ring finger" ], "HP:0004190": [ "short 4th finger", "hypoplastic / small 4th finger", "short ring finger" ], "HP:0006211": [ "short 4th finger", "hypoplastic / small 4th finger", "short ring finger" ], "HP:0009281": [ "aplasia of the 4th finger", "absent ring finger" ], "HP:0009282": [ "abnormality of the distal phalanx of the 4th finger", "abnormality of the outermost bone of ring finger" ], "HP:0009283": [ "abnormality of the middle phalanx of the 4th finger", "abnormal middle bone of ring finger", "abnormality of the middle phalanx of the ring finger" ], "HP:0004204": [ "abnormality of the middle phalanx of the 4th finger", "abnormal middle bone of ring finger", "abnormality of the middle phalanx of the ring finger" ], "HP:0009284": [ "abnormality of the proximal phalanx of the 4th finger", "abnormal innermost bone of ring finger", "abnormality of the proximal phalanx of the ring finger" ], "HP:0004199": [ "abnormality of the proximal phalanx of the 4th finger", "abnormal innermost bone of ring finger", "abnormality of the proximal phalanx of the ring finger" ], "HP:0009285": [ "curve phalanx of the 4th finger", "curved phalanges of the 4th finger", "curve ring finger bone", "curved ring finger bone" ], "HP:0009286": [ "curve distal phalanx of the 4th finger", "curved distal phalanx of the 4th finger", "curve outermost ring finger bone", "curved outermost ring finger bone" ], "HP:0009287": [ "curve middle phalanx of the 4th finger", "curved middle phalanx of the 4th finger", "curve middle ring finger bone", "curved middle ring finger bone" ], "HP:0009288": [ "curve proximal phalanx of the 4th finger", "curved proximal phalanx of the 4th finger", "curve innermost ring finger bone", "curved innermost ring finger bone" ], "HP:0009289": [ "aplasia / hypoplasia of the distal phalanx of the 4th finger", "absent / small outermost ring finger bone", "absent / underdevelop outermost ring finger bone", "absent / underdeveloped outermost ring finger bone" ], "HP:0009290": [ "short distal phalanx of the 4th finger", "hypoplastic / small distal phalanx of the 4th finger", "short distal phalanx of the fourth finger", "short outermost bone of ring finger" ], "HP:0009291": [ "aplasia of the distal phalanx of the 4th finger", "absent outermost bone of ring finger" ], "HP:0009292": [ "broad distal phalanx of the 4th finger", "broad outermost bone of ring finger", "wide outermost bone of ring finger" ], "HP:0009293": [ "broad middle phalanx of the 4th finger", "broad middle bone of the 4th finger" ], "HP:0009294": [ "absent middle phalanx of 4th finger", "absent middle bone of 4th finger", "aplasia of the middle phalanx of the 4th finger" ], "HP:0009295": [ "short middle phalanx of the 4th finger", "brachymesophalangy iv ( finger )", "hypoplastic / small middle phalanx of ring finger", "hypoplastic / small middle phalanx of the 4th finger", "short middle bone of 4th finger", "short middle phalanx of ring finger" ], "HP:0004205": [ "short middle phalanx of the 4th finger", "brachymesophalangy iv ( finger )", "hypoplastic / small middle phalanx of ring finger", "hypoplastic / small middle phalanx of the 4th finger", "short middle bone of 4th finger", "short middle phalanx of ring finger" ], "HP:0004206": [ "short middle phalanx of the 4th finger", "brachymesophalangy iv ( finger )", "hypoplastic / small middle phalanx of ring finger", "hypoplastic / small middle phalanx of the 4th finger", "short middle bone of 4th finger", "short middle phalanx of ring finger" ], "HP:0009296": [ "bullet - shape middle phalanx of the 4th finger", "bullet - shaped middle phalanx of the 4th finger", "bullet - shape middle bone of the 4th finger", "bullet - shaped middle bone of the 4th finger" ], "HP:0009297": [ "osteolytic defect of the middle phalanx of the 4th finger", "osteolytic defects of the middle phalanx of the 4th finger" ], "HP:0009298": [ "aplasia of the proximal phalanx of the 4th finger", "absent innermost ring finger bone" ], "HP:0009299": [ "aplasia / hypoplasia of the middle phalanx of the 4th finger", "absent / small middle ring finger bone", "absent / underdevelop middle ring finger bone", "absent / underdeveloped middle ring finger bone" ], "HP:0009300": [ "obsolete short proximal phalanx of the ring finger", "aplasia / hypoplasia of the proximal phalanx of the 4th finger", "absent / small innermost ring finger bone", "absent / underdevelop innermost ring finger bone", "absent / underdeveloped innermost ring finger bone" ], "HP:0009301": [ "short proximal phalanx of the 4th finger", "hypoplastic / small proximal phalanx of the 4th finger", "short innermost bone of the ring finger", "short proximal phalanx of the fourth finger" ], "HP:0009302": [ "bullet - shaped distal phalanx of the 4th finger", "bullet - shape outermost bone of ring finger", "bullet - shaped outermost bone of ring finger" ], "HP:0009303": [ "osteolytic defect of the distal phalanx of the 4th finger", "osteolytic defects of the distal phalanx of the 4th finger" ], "HP:0009304": [ "patchy sclerosis of the distal phalanx of the 4th finger", "uneven increase in bone density in the outermost bone of the ring finger" ], "HP:0009305": [ "distal / middle symphalangism of 4th finger", "fuse outermost and middle bone of ring finger", "fused outermost and middle bones of ring finger", "symphalangism of the distal and middle phalanx of the 4th finger", "symphalangism of the distal and middle phalanges of the 4th finger" ], "HP:0009474": [ "distal / middle symphalangism of 4th finger", "fuse outermost and middle bone of ring finger", "fused outermost and middle bones of ring finger", "symphalangism of the distal and middle phalanx of the 4th finger", "symphalangism of the distal and middle phalanges of the 4th finger" ], "HP:0009475": [ "distal / middle symphalangism of 4th finger", "fuse outermost and middle bone of ring finger", "fused outermost and middle bones of ring finger", "symphalangism of the distal and middle phalanx of the 4th finger", "symphalangism of the distal and middle phalanges of the 4th finger" ], "HP:0009306": [ "triangular shape distal phalanx of the 4th finger", "triangular shaped distal phalanx of the 4th finger", "triangular shape outermost bone of the ring finger", "triangular shaped outermost bone of the ring finger" ], "HP:0009307": [ "patchy sclerosis of the middle phalanx of the 4th finger", "uneven increase in bone density in the middle bone of the ring finger" ], "HP:0009308": [ "symphalangism of middle phalanx of 4th finger", "fuse middle bone of ring finger", "fused middle bone of ring finger" ], "HP:0009309": [ "triangular shape middle phalanx of the 4th finger", "triangular shaped middle phalanx of the 4th finger", "triangular shape middle bone of the ring finger", "triangular shaped middle bone of the ring finger" ], "HP:0009310": [ "obsolete expand proximal phalanx of the ring finger", "obsolete expanded proximal phalanx of the ring finger", "broad proximal phalanx of the 4th finger", "broad innermost ring finger bone" ], "HP:0009311": [ "bullet - shape proximal phalanx of the 4th finger", "bullet - shaped proximal phalanx of the 4th finger", "bullet - shape innermost ring finger bone", "bullet - shaped innermost ring finger bone" ], "HP:0009312": [ "obsolete lytic defect of the proximal phalanx of the ring finger", "obsolete lytic defects of the proximal phalanx of the ring finger", "osteolytic defect of the proximal phalanx of the 4th finger", "osteolytic defects of the proximal phalanx of the 4th finger" ], "HP:0009313": [ "patchy sclerosis of the proximal phalanx of the 4th finger", "uneven increase in bone density in the innermost bone of the ring finger" ], "HP:0009314": [ "symphalangism affect the proximal phalanx of the 4th finger", "symphalangism affecting the proximal phalanx of the 4th finger", "fuse innermost bone of ring finger", "fused innermost bone of ring finger" ], "HP:0009315": [ "triangular shape proximal phalanx of the 4th finger", "triangular shaped proximal phalanx of the 4th finger", "triangular shape innermost bone of the 4th finger", "triangular shaped innermost bone of the 4th finger", "triangular shape innermost bone of the ring finger", "triangular shaped innermost bone of the ring finger" ], "HP:0009316": [ "abnormal 3rd finger phalanx morphology", "abnormality of 3rd finger phalanx", "abnormality of 3rd finger phalanges", "abnormality of middle finger phalanx", "abnormality of middle finger phalanges", "abnormality of the middle finger bone", "abnormality of the middle finger bones", "abnormality of the phalanx of the 3rd finger", "abnormality of the phalanges of the 3rd finger" ], "HP:0004155": [ "abnormal 3rd finger phalanx morphology", "abnormality of 3rd finger phalanx", "abnormality of 3rd finger phalanges", "abnormality of middle finger phalanx", "abnormality of middle finger phalanges", "abnormality of the middle finger bone", "abnormality of the middle finger bones", "abnormality of the phalanx of the 3rd finger", "abnormality of the phalanges of the 3rd finger" ], "HP:0009317": [ "deviation of the 3rd finger", "deviate middle finger", "deviated middle finger" ], "HP:0004152": [ "deviation of the 3rd finger", "deviate middle finger", "deviated middle finger" ], "HP:0009318": [ "aplasia / hypoplasia of the 3rd finger", "absent / small middle finger", "absent / underdevelop middle finger", "absent / underdeveloped middle finger" ], "HP:0009319": [ "joint contracture of the 3rd finger", "camptodactyly of middle finger" ], "HP:0004151": [ "joint contracture of the 3rd finger", "camptodactyly of middle finger" ], "HP:0009320": [ "abnormality of the epiphysis of the 3rd finger", "abnormality of the epiphyses of the 3rd finger", "abnormality of end part of the middle bone of the middle finger" ], "HP:0009321": [ "absent epiphysis of the middle phalanx of the 3rd finger", "absent end part of the middle bone of the middle finger" ], "HP:0009322": [ "bracket epiphysis of the middle phalanx of the 3rd finger", "bracket shape end part of the middle bone of the middle finger", "bracket shaped end part of the middle bone of the middle finger" ], "HP:0009323": [ "cone - shaped epiphysis of the middle phalanx of the 3rd finger", "cone - shaped end part of the middle bone of the middle finger" ], "HP:0009324": [ "enlarged epiphysis of the middle phalanx of the 3rd finger", "enlarged end part of the middle bone of the middle finger" ], "HP:0009325": [ "fragmentation of the epiphysis of the middle phalanx of the 3rd finger", "fragmentation of end part of the middle bone of the middle finger" ], "HP:0009326": [ "irregular epiphysis of the middle phalanx of the 3rd finger", "irregular end part of the middle bone of the middle finger" ], "HP:0009327": [ "ivory epiphysis of the middle phalanx of the 3rd finger", "increase bone density of end part of the middle bone of the middle finger", "increased bone density of end part of the middle bone of the middle finger" ], "HP:0009328": [ "pseudoepiphysis of the middle phalanx of the 3rd finger", "pseudoepiphyses of middle phalanx of middle - finger" ], "HP:0004176": [ "pseudoepiphysis of the middle phalanx of the 3rd finger", "pseudoepiphyses of middle phalanx of middle - finger" ], "HP:0009329": [ "small epiphysis of the middle phalanx of the 3rd finger", "small end part of the middle bone of the middle finger" ], "HP:0009330": [ "stippling of the epiphysis of the middle phalanx of the 3rd finger", "speckled calcification in end part of the middle bone of the middle finger", "speckled calcifications in end part of the middle bone of the middle finger" ], "HP:0009331": [ "triangular 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" ], "HP:0009332": [ "abnormality of the epiphysis of the distal phalanx of the 3rd finger", "abnormality of the end part of the outermost bone of the middle finger" ], "HP:0009333": [ "abnormality of the epiphysis of the proximal phalanx of the 3rd finger", "abnormality of the end part of the innermost bone of the middle finger" ], "HP:0009334": [ "abnormality of the epiphysis of the middle phalanx of the 3rd finger", "abnormality of the middle part of the middle bone of the middle finger" ], "HP:0009335": [ "absent epiphysis of the distal phalanx of the 3rd finger", "absent end part of the outermost bone of the middle finger" ], "HP:0009336": [ "bracket epiphysis of the distal phalanx of the 3rd finger", "bracket shape end part of the outermost bone of the middle finger", "bracket shaped end part of the outermost bone of the middle finger" ], "HP:0009337": [ "cone - shaped epiphysis of the distal phalanx of the 3rd finger", "cone - shaped end part of the outermost bone of the middle finger" ], "HP:0009338": [ "enlarged epiphysis of the distal phalanx of the 3rd finger", "enlarged end part of the outermost bone of the 3rd finger" ], "HP:0009339": [ "fragmentation of the epiphysis of the distal phalanx of the 3rd finger", "fragmentation of end part of the outermost bone of the middle finger" ], "HP:0009340": [ "irregular epiphysis of the distal phalanx of the 3rd finger", "irregular end part of the outermost long bone of the middle finger" ], "HP:0009341": [ "ivory epiphysis of the distal phalanx of the 3rd finger", "increase bone density of end part of the outermost middle finger bone", "increased bone density of end part of the outermost middle finger bone" ], "HP:0009342": [ "pseudoepiphysis of the distal phalanx of the 3rd finger", "pseudoepiphysis of the outermost bone of the middle finger" ], "HP:0009343": [ "small epiphysis of the distal phalanx of the 3rd finger", "small end part of the outermost long bone of the middle finger" ], "HP:0009344": [ "stippling of the epiphysis of the distal phalanx of the 3rd finger", "speckled calcification in end part of the outermost long bone of the middle finger", "speckled calcifications in end part of the outermost long bone of the middle finger" ], "HP:0009345": [ "triangular 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" ], "HP:0009346": [ "absent epiphysis of the proximal phalanx of the 3rd finger", "absent end part of innermost long bone of the middle finger" ], "HP:0009347": [ "bracket epiphysis of the proximal phalanx of the 3rd finger", "bracket shape end part of innermost long bone of the middle finger", "bracket shaped end part of innermost long bone of the middle finger" ], "HP:0009348": [ "cone - shaped epiphysis of the proximal phalanx of the 3rd finger", "cone - shaped end part of the innermost bone of the middle finger" ], "HP:0009349": [ "enlarged epiphysis of the proximal phalanx of the 3rd finger", "enlarged end part of innermost long bone of the middle finger", "large epiphysis of proximal middle - finger phalanx" ], "HP:0004171": [ "enlarged epiphysis of the proximal phalanx of the 3rd finger", "enlarged end part of innermost long bone of the middle finger", "large epiphysis of proximal middle - finger phalanx" ], "HP:0009350": [ "fragmentation of the epiphysis of the proximal phalanx of the 3rd finger", "fragmentation of end part of innermost long bone of the middle finger" ], "HP:0009351": [ "irregular epiphysis of the proximal phalanx of the 3rd finger", "irregular end part of innermost long bone of the middle finger" ], "HP:0009352": [ "ivory epiphysis of the proximal phalanx of the 3rd finger", "increase bone density of end part of the innermost middle finger bone", "increased bone density of end part of the innermost middle finger bone" ], "HP:0009353": [ "pseudoepiphysis of the proximal phalanx of the 3rd finger" ], "HP:0009354": [ "small epiphysis of the proximal phalanx of the 3rd finger", "small end part of innermost long bone of the middle finger" ], "HP:0009355": [ "stippling of the epiphysis of the proximal phalanx of the 3rd finger", "speckled calcification in end part of innermost long bone of the middle finger", "speckled calcifications in end part of innermost long bone of the middle finger" ], "HP:0009356": [ "triangular 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" ], "HP:0009357": [ "abnormality of the distal phalanx of the 3rd finger", "abnormality of terminal phalanx of middle - finger", "abnormality of the outermost bone of the 3rd finger" ], "HP:0004179": [ "abnormality of the distal phalanx of the 3rd finger", "abnormality of terminal phalanx of middle - finger", "abnormality of the outermost bone of the 3rd finger" ], "HP:0009358": [ "abnormality of the proximal phalanx of the 3rd finger", "abnormal innermost bone of middle finger", "abnormality of proximal middle - finger phalanx" ], "HP:0004167": [ "abnormality of the proximal phalanx of the 3rd finger", "abnormal innermost bone of middle finger", "abnormality of proximal middle - finger phalanx" ], "HP:0009370": [ "type a brachydactyly" ], "HP:0009371": [ "type a1 brachydactyly" ], "HP:0009372": [ "type a2 brachydactyly", "short index finger and second toe", "short index fingers and second toes" ], "HP:0009373": [ "type c brachydactyly" ], "HP:0009374": [ "broad phalanx of the 5th finger", "broad phalanges of the 5th finger", "broad little finger bone", "broad little finger bones", "broad pinkie finger bone", "broad pinkie finger bones", "broad pinky finger bone", "broad pinky finger bones" ], "HP:0009375": [ "bullet - shaped phalanx of the 5th finger", "bullet - shaped phalanges of the 5th finger", "bullet - shape little finger bone", "bullet - shaped little finger bones", "bullet - shape pinkie finger bone", "bullet - shaped pinkie finger bones", "bullet - shape pinky finger bone", "bullet - shaped pinky finger bones" ], "HP:0009376": [ "aplasia / hypoplasia of the phalanx of the 5th finger", "aplasia / hypoplasia of the phalanges of the 5th finger", "absent / small little finger bone", "absent / small little finger bones", "absent / small pinkie finger bone", "absent / small pinkie finger bones", "absent / small pinky finger bone", "absent / small pinky finger bones", "absent / underdevelop pinky finger bone", "absent / underdeveloped pinky finger bones" ], "HP:0009377": [ "patchy sclerosis of 5th finger phalanx", "patchy sclerosis of the phalanx of the 5th finger", "patchy sclerosis of the phalanges of the 5th finger", "uneven increase in bone density in little finger bone", "uneven increase in bone density in pinkie finger bone", "uneven increase in bone density in pinky finger bone" ], "HP:0009378": [ "triangular shape phalanx of the 5th finger", "triangular shaped phalanges of the 5th finger", "triangular shape little finger bone", "triangular shaped little finger bones", "triangular shape pinkie finger bone", "triangular shaped pinkie finger bones", "triangular shape pinky finger bone", "triangular shaped pinky finger bones" ], "HP:0009379": [ "rhomboid or triangular shape 5th finger distal phalanx", "rhomboid or triangular shaped 5th finger distal phalanx", "rhomboid or triangular shape little finger bone", "rhomboid or triangular shaped little finger bone", "rhomboid or triangular shape pinkie finger bone", "rhomboid or triangular shaped pinkie finger bone", "rhomboid or triangular shape pinky finger bone", "rhomboid or triangular shaped pinky finger bone" ], "HP:0009380": [ "aplasia of the finger", "aplasia of the fingers", "absent finger", "absent fingers" ], "HP:0004093": [ "aplasia of the finger", "aplasia of the fingers", "absent finger", "absent fingers" ], "HP:0009381": [ "short finger", "hypoplastic digit", "hypoplastic digits", "hypoplastic finger", "hypoplastic fingers", "hypoplastic / small finger", "hypoplastic / small fingers", "stubby finger", "stubby fingers" ], "HP:0004098": [ "short finger", "hypoplastic digit", "hypoplastic digits", "hypoplastic finger", "hypoplastic fingers", "hypoplastic / small finger", "hypoplastic / small fingers", "stubby finger", "stubby fingers" ], "HP:0006015": [ "short finger", "hypoplastic digit", "hypoplastic digits", "hypoplastic finger", "hypoplastic fingers", "hypoplastic / small finger", "hypoplastic / small fingers", "stubby finger", "stubby fingers" ], "HP:0009382": [ "absent epiphysis of the 5th finger", "absent epiphyses of the 5th finger", "absent end part of little finger bone", "absent end part of pinkie finger bone", "absent end part of pinky finger bone" ], "HP:0009383": [ "bracket epiphysis of the 5th finger", "bracket epiphyses of the 5th finger", "bracket shape end part of little finger bone", "bracket shaped end part of little finger bone", "bracket shape end part of pinkie finger bone", "bracket shaped end part of pinkie finger bone", "bracket shape end part of pinky finger bone", "bracket shaped end part of pinky finger bone" ], "HP:0009384": [ "cone - shaped epiphysis of the 5th finger", "cone - shaped epiphyses of the 5th finger", "cone - shaped end part of the little finger bone", "cone - shaped end part of the little finger bones", "cone - shaped end part of the pinkie finger bone", "cone - shaped end part of the pinkie finger bones", "cone - shaped end part of the pinky finger bone", "cone - shaped end part of the pinky finger bones" ], "HP:0009385": [ "enlarged epiphysis of the 5th finger", "enlarged epiphyses of the 5th finger", "enlarged end part of the little finger bone", "enlarged end part of the little finger bones", "enlarged end part of the pinkie finger bone", "enlarged end part of the pinkie finger bones", "enlarged end part of the pinky finger bone", "enlarged end part of the pinky finger bones" ], "HP:0009386": [ "fragmentation of the epiphysis of the 5th finger", "fragmentation of the epiphyses of the 5th finger", "fragmentation of the end part of the little finger bone", "fragmentation of the end part of the little finger bones", "fragmentation of the end part of the pinkie finger bone", "fragmentation of the end part of the pinkie finger bones", "fragmentation of the end part of the pinky finger bone", "fragmentation of the end part of the pinky finger bones" ], "HP:0009387": [ "irregular epiphysis of the 5th finger", "irregular epiphyses of the 5th finger", "irregular end part of the little finger bone", "irregular end part of the little finger bones", "irregular end part of the pinkie finger bone", "irregular end part of the pinkie finger bones", "irregular end part of the pinky finger bone", "irregular end part of the pinky finger bones" ], "HP:0009388": [ "ivory epiphysis of the 5th finger", "ivory epiphyses of the 5th finger", "increase bone density of end part of the little finger", "increased bone density of end part of the little finger", "increase bone density of end part of the pinkie finger", "increased bone density of end part of the pinkie finger", "increase bone density of end part of the pinky finger", "increased bone density of end part of the pinky finger" ], "HP:0009389": [ "pseudoepiphyses of the 5th finger" ], "HP:0009390": [ "small epiphysis of the 5th finger", "small epiphyses of the 5th finger", "small end part of little finger bone", "small end part of pinkie finger bone", "small end part of pinky finger bone" ], "HP:0009391": [ "stippling of the epiphysis of the 5th finger", "stippling of the epiphyses of the 5th finger", "speckled calcification in end part of little finger bone", "speckled calcifications in end part of little finger bone", "speckled calcification in end part of pinkie finger bone", "speckled calcifications in end part of pinkie finger bone", "speckled calcification in end part of pinky finger bone", "speckled calcifications in end part of pinky finger bone" ], "HP:0009392": [ "triangular epiphysis of the 5th finger", "triangular epiphyses of the 5th finger", "delta - shaped epiphysis of the 5th finger", "delta - shaped epiphyses of the 5th finger", "triangular end part of the little finger", "triangular end part of the pinkie finger", "triangular end part of the pinky finger" ], "HP:0009393": [ "absent epiphysis of the 4th finger", "absent epiphyses of the 4th finger", "absent end part of the ring finger bone" ], "HP:0009394": [ "obsolete bracket epiphysis of the 4th finger", "obsolete bracket epiphyses of the 4th finger", "bracket epiphysis of the 4th finger", "bracket epiphyses of the 4th finger", "bracket shape end part of ring finger bone", "bracket shaped end part of ring finger bones" ], "HP:0009395": [ "cone - shaped epiphysis of the 4th finger", "cone - shaped epiphyses of the 4th finger", "cone - shaped end part of the ring finger bone", "cone - shaped end part of the ring finger bones" ], "HP:0009396": [ "enlarged epiphysis of the 4th finger", "enlarged epiphyses of the 4th finger", "enlarged end part of the ring finger bone", "enlarged end part of the ring finger bones" ], "HP:0009397": [ "fragmentation of the epiphysis of the 4th finger", "fragmentation of the epiphyses of the 4th finger", "fragmentation of the end part of the ring finger bone", "fragmentation of the end part of the ring finger bones" ], "HP:0009398": [ "irregular epiphysis of the 4th finger", "irregular epiphyses of the 4th finger", "irregular end part of the ring finger bone", "irregular end part of the ring finger bones" ], "HP:0009399": [ "ivory epiphysis of the 4th finger", "ivory epiphyses of the 4th finger", "increase bone density of end part of the ring finger bone", "increased bone density of end part of the ring finger bone" ], "HP:0009400": [ "pseudoepiphyses of the 4th finger" ], "HP:0009401": [ "small epiphysis of the 4th finger", "small epiphyses of the 4th finger", "small end part of ring finger bone" ], "HP:0009402": [ "stippling of the epiphysis of the 4th finger", "stippling of the epiphyses of the 4th finger", "speckled calcification in end part of ring finger bone", "speckled calcifications in end part of ring finger bone" ], "HP:0009403": [ "triangular epiphysis of the 4th finger", "triangular epiphyses of the 4th finger", "delta - shaped epiphysis of the 4th finger", "delta - shaped epiphyses of the 4th finger", "triangular end part of ring finger bone" ], "HP:0009404": [ "broad phalanx of the 4th finger", "broad phalanges of the 4th finger", "broad bone of ring finger", "broad bones of ring finger" ], "HP:0009405": [ "bullet - shaped phalanx of the 4th finger", "bullet - shaped phalanges of the 4th finger", "bullet - shaped of bone of ring finger" ], "HP:0009406": [ "patchy sclerosis of 4th finger phalanx", "patchy sclerosis of the phalanx of the 4th finger", "patchy sclerosis of the phalanges of the 4th finger", "uneven increase in bone density in ring finger bone" ], "HP:0009407": [ "triangular shape phalanx of the 4th finger", "triangular shaped phalanges of the 4th finger", "triangular shape bone of ring finger", "triangular shaped bone of ring finger" ], "HP:0009408": [ "aplasia / hypoplasia of the phalanx of the 4th finger", "aplasia / hypoplasia of the phalanges of the 4th finger", "absent / small ring finger bone", "absent / small ring finger bones", "absent / underdevelop ring finger bone", "absent / underdeveloped ring finger bones" ], "HP:0009410": [ "absent epiphysis of the 3rd finger", "absent epiphyses of the 3rd finger", "absent end part of middle finger bone" ], "HP:0009411": [ "bracket epiphysis of the 3rd finger", "bracket epiphyses of the 3rd finger", "bracket shape end part of middle finger bone", "bracket shaped end part of middle finger bone" ], "HP:0009412": [ "cone - shaped epiphysis of the 3rd finger", "cone - shaped epiphyses of the 3rd finger", "cone - shaped end part of middle finger bone" ], "HP:0009413": [ "enlarged epiphysis of the 3rd finger", "enlarged epiphyses of the 3rd finger", "enlarged end part of middle finger bone" ], "HP:0009414": [ "fragmentation of the epiphysis of the 3rd finger", "fragmentation of the epiphyses of the 3rd finger", "fragmentation of end part of middle finger bone" ], "HP:0009415": [ "irregular epiphysis of the 3rd finger", "irregular epiphyses of the 3rd finger", "irregular end part of middle finger bone" ], "HP:0009416": [ "ivory epiphysis of the 3rd finger", "ivory epiphyses of the 3rd finger", "increase bone density of end part of the middle finger bone", "increased bone density of end part of the middle finger bone" ], "HP:0009417": [ "pseudoepiphyses of the 3rd finger", "pseudoepiphyses of middle finger phalanx", "pseudoepiphyses of middle finger phalanges" ], "HP:0004163": [ "pseudoepiphyses of the 3rd finger", "pseudoepiphyses of middle finger phalanx", "pseudoepiphyses of middle finger phalanges" ], "HP:0009418": [ "small epiphysis of the 3rd finger", "small epiphyses of the 3rd finger", "small end part of middle finger bone" ], "HP:0009419": [ "stippling of the epiphysis of the 3rd finger", "stippling of the epiphyses of the 3rd finger", "speckled calcification in end part of middle finger bone", "speckled calcifications in end part of middle finger bone" ], "HP:0009420": [ "triangular epiphysis of the 3rd finger", "triangular epiphyses of the 3rd finger", "delta - shaped epiphysis of the 3rd finger", "delta - shaped epiphyses of the 3rd finger", "triangular end part of middle finger bone" ], "HP:0009421": [ "aplasia / hypoplasia of the distal phalanx of the 3rd finger", "absent / small outermost middle finger bone", "absent / underdevelop outermost middle finger bone", "absent / underdeveloped outermost middle finger bone" ], "HP:0009422": [ "broad distal phalanx of the 3rd finger", "broad outermost bone of middle finger" ], "HP:0009423": [ "bullet - shaped distal phalanx of the 3rd finger", "bullet - shape outermost bone of the middle finger", "bullet - shaped outermost bone of the middle finger" ], "HP:0009424": [ "osteolytic defect of the distal phalanx of the 3rd finger", "osteolytic defects of the distal phalanx of the 3rd finger", "lytic defect of terminal phalanx of middle finger" ], "HP:0004181": [ "osteolytic defect of the distal phalanx of the 3rd finger", "osteolytic defects of the distal phalanx of the 3rd finger", "lytic defect of terminal phalanx of middle finger" ], "HP:0009425": [ "patchy sclerosis of the distal phalanx of the 3rd finger", "uneven increase in bone density in the outermost bone of the 3rd finger" ], "HP:0009426": [ "distal / middle symphalangism of 3rd finger", "fuse outermost and middle bone of middle finger", "fused outermost and middle bones of middle finger", "symphalangism of the distal and middle phalanx of the 3rd finger", "symphalangism of the distal and middle phalanges of the 3rd finger" ], "HP:0009479": [ "distal / middle symphalangism of 3rd finger", "fuse outermost and middle bone of middle finger", "fused outermost and middle bones of middle finger", "symphalangism of the distal and middle phalanx of the 3rd finger", "symphalangism of the distal and middle phalanges of the 3rd finger" ], "HP:0009480": [ "distal / middle symphalangism of 3rd finger", "fuse outermost and middle bone of middle finger", "fused outermost and middle bones of middle finger", "symphalangism of the distal and middle phalanx of the 3rd finger", "symphalangism of the distal and middle phalanges of the 3rd finger" ], "HP:0009427": [ "triangular shape distal phalanx of the 3rd finger", "triangular shaped distal phalanx of the 3rd finger", "triangular shape outermost bone of the middle finger", "triangular shaped outermost bone of the middle finger" ], "HP:0009428": [ "curve distal phalanx of the 3rd finger", "curved distal phalanx of the 3rd finger", "curve outermost bone of the 3rd finger", "curved outermost bone of the 3rd finger" ], "HP:0009429": [ "aplasia of the distal phalanx of the 3rd finger", "absent of the outermost bone of the middle finger" ], "HP:0009430": [ "broad middle phalanx of the 3rd finger", "broad middle bone of middle finger", "wide / broad middle phalanx of middle - finger" ], "HP:0004178": [ "broad middle phalanx of the 3rd finger", "broad middle bone of middle finger", "wide / broad middle phalanx of middle - finger" ], "HP:0009431": [ "bullet - shape middle phalanx of the 3rd finger", "bullet - shaped middle phalanx of the 3rd finger", "bullet - shape middle bone of middle finger", "bullet - shaped middle bone of middle finger" ], "HP:0009432": [ "curve middle phalanx of the 3rd finger", "curved middle phalanx of the 3rd finger", "curve middle bone of the middle finger", "curved middle bone of the middle finger" ], "HP:0009433": [ "osteolytic defect of the middle phalanx of the 3rd finger", "osteolytic defects of the middle phalanx of the 3rd finger" ], "HP:0009434": [ "patchy sclerosis of the middle phalanx of the 3rd finger", "uneven increase in bone density in the middle bone of the middle finger" ], "HP:0009435": [ "symphalangism of middle phalanx of 3rd finger", "fuse middle bone of middle finger", "fused middle bone of middle finger" ], "HP:0009436": [ "triangular shape middle phalanx of the 3rd finger", "triangular shaped middle phalanx of the 3rd finger", "triangular shape middle bone of the middle finger", "triangular shaped middle bone of the middle finger" ], "HP:0009437": [ "aplasia / hypoplasia of the middle phalanx of the 3rd finger", "absent / small middle bone of the middle finger", "absent / underdevelop middle bone of the middle finger", "absent / underdeveloped middle bone of the middle finger" ], "HP:0009438": [ "absent middle phalanx of 3rd finger", "absent middle bone of middle finger", "absent middle phalanx of middle finger", "aplasia of the middle phalanx of the 3rd finger" ], "HP:0004173": [ "absent middle phalanx of 3rd finger", "absent middle bone of middle finger", "absent middle phalanx of middle finger", "aplasia of the middle phalanx of the 3rd finger" ], "HP:0009439": [ "short middle phalanx of the 3rd finger", "brachymesophalangy iii ( finger )", "hypoplastic / small middle phalanx of the 3rd finger", "short middle bone of middle finger" ], "HP:0004177": [ "short middle phalanx of the 3rd finger", "brachymesophalangy iii ( finger )", "hypoplastic / small middle phalanx of the 3rd finger", "short middle bone of middle finger" ], "HP:0006212": [ "short middle phalanx of the 3rd finger", "brachymesophalangy iii ( finger )", "hypoplastic / small middle phalanx of the 3rd finger", "short middle bone of middle finger" ], "HP:0009440": [ "broad phalanx of the 3rd finger", "broad phalanges of the 3rd finger", "wide bone of middle finger", "wide bones of middle finger", "wide / broad middle finger phalanx", "wide / broad middle finger phalanges" ], "HP:0004166": [ "broad phalanx of the 3rd finger", "broad phalanges of the 3rd finger", "wide bone of middle finger", "wide bones of middle finger", "wide / broad middle finger phalanx", "wide / broad middle finger phalanges" ], "HP:0009441": [ "bullet - shaped phalanx of the 3rd finger", "bullet - shaped phalanges of the 3rd finger", "bullet - shaped bone of middle finger", "bullet - shaped bones of middle finger" ], "HP:0009442": [ "curve phalanx of the 3rd finger", "curved phalanges of the 3rd finger", "curve bone of middle finger", "curved bones of middle finger" ], "HP:0009443": [ "osteolytic defect of the phalanx of the 3rd finger", "osteolytic defects of the phalanges of the 3rd finger", "lytic defect of middle finger phalanx", "lytic defects of middle finger phalanges" ], "HP:0004159": [ "osteolytic defect of the phalanx of the 3rd finger", "osteolytic defects of the phalanges of the 3rd finger", "lytic defect of middle finger phalanx", "lytic defects of middle finger phalanges" ], "HP:0009444": [ "patchy sclerosis of 3rd finger phalanx", "patchy sclerosis of middle finger phalanx", "patchy sclerosis of middle finger phalanges", "patchy sclerosis of the phalanx of the 3rd finger", "patchy sclerosis of the phalanges of the 3rd finger", "uneven increase in bone density in middle finger bone" ], "HP:0004160": [ "patchy sclerosis of 3rd finger phalanx", "patchy sclerosis of middle finger phalanx", "patchy sclerosis of middle finger phalanges", "patchy sclerosis of the phalanx of the 3rd finger", "patchy sclerosis of the phalanges of the 3rd finger", "uneven increase in bone density in middle finger bone" ], "HP:0009445": [ "symphalangism of the 3rd finger", "fuse middle finger", "fused middle finger" ], "HP:0009446": [ "triangular shape phalanx of the 3rd finger", "triangular shaped phalanges of the 3rd finger", "triangular shape bone of the middle finger", "triangular shaped bone of the middle finger" ], "HP:0009447": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0004156": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0004158": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0004164": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0004165": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0009449": [ "aplasia / hypoplasia of the phalanx of the 3rd finger", "aplasia / hypoplasia of the phalanges of the 3rd finger", "absent / small middle finger bone", "absent / underdevelop middle finger bone", "absent / underdeveloped middle finger bone", "hypoplastic middle finger phalanx", "hypoplastic middle finger phalanges", "short middle finger phalanx", "short middle finger phalanges", "small middle finger phalanx", "small middle finger phalanges", "obsolete hypoplastic / small phalanx of the 3rd finger", "obsolete hypoplastic / small phalanges of the 3rd finger" ], "HP:0009448": [ "obsolete aplasia of the phalanx of the 3rd finger", "obsolete aplasia of the phalanges of the 3rd finger" ], "HP:0009450": [ "broad proximal phalanx of the 3rd finger", "broad innermost bone of middle finger" ], "HP:0009451": [ "bullet - shape proximal phalanx of the 3rd finger", "bullet - shaped proximal phalanx of the 3rd finger", "bullet - shape innermost bone of the middle finger", "bullet - shaped innermost bone of the middle finger" ], "HP:0009452": [ "curve proximal phalanx of the 3rd finger", "curved proximal phalanx of the 3rd finger", "curve innermost bone of middle finger", "curved innermost bone of middle finger" ], "HP:0009453": [ "osteolytic defect of the proximal phalanx of the 3rd finger", "osteolytic defects of the proximal phalanx of the 3rd finger" ], "HP:0009454": [ "patchy sclerosis of the proximal phalanx of the 3rd finger", "uneven increase in bone density in the innermost bone of the middle finger" ], "HP:0009455": [ "symphalangism affect the proximal phalanx of the 3rd finger", "symphalangism affecting the proximal phalanx of the 3rd finger", "fuse innermost bone of middle finger", "fused innermost bone of middle finger" ], "HP:0009456": [ "triangular shape proximal phalanx of the 3rd finger", "triangular shaped proximal phalanx of the 3rd finger", "triangular shape innermost bone of middle finger", "triangular shaped innermost bone of middle finger" ], "HP:0009457": [ "aplasia / hypoplasia of the proximal phalanx of the 3rd finger", "absent / small innermost bone of middle finger", "absent / underdevelop innermost bone of middle finger", "absent / underdeveloped innermost bone of middle finger" ], "HP:0009458": [ "aplasia of the proximal phalanx of the 3rd finger", "absent innermost bone of middle finger" ], "HP:0009459": [ "short proximal phalanx of the 3rd finger", "hypoplastic / small proximal phalanx of the 3rd finger", "short innermost bone of middle finger", "short proximal middle - finger phalanx", "short proximal phalanx of the third finger", "small proximal middle - finger phalanx" ], "HP:0004169": [ "short proximal phalanx of the 3rd finger", "hypoplastic / small proximal phalanx of the 3rd finger", "short innermost bone of middle finger", "short proximal middle - finger phalanx", "short proximal phalanx of the third finger", "small proximal middle - finger phalanx" ], "HP:0004170": [ "short proximal phalanx of the 3rd finger", "hypoplastic / small proximal phalanx of the 3rd finger", "short innermost bone of middle finger", "short proximal middle - finger phalanx", "short proximal phalanx of the third finger", "small proximal middle - finger phalanx" ], "HP:0009460": [ "aplasia of the 3rd finger", "absent middle finger" ], "HP:0009461": [ "short 3rd finger", "hypoplastic / small 3rd finger", "short middle finger" ], "HP:0004154": [ "short 3rd finger", "hypoplastic / small 3rd finger", "short middle finger" ], "HP:0009462": [ "radial deviation of the 3rd finger", "inward turn middle finger", "inward turned middle finger" ], "HP:0009463": [ "ulnar deviation of the 3rd finger", "ulnar deviation of middle finger", "ulnar deviation of middle fingers" ], "HP:0005865": [ "ulnar deviation of the 3rd finger", "ulnar deviation of middle finger", "ulnar deviation of middle fingers" ], "HP:0006022": [ "ulnar deviation of the 3rd finger", "ulnar deviation of middle finger", "ulnar deviation of middle fingers" ], "HP:0009464": [ "ulnar deviation of the 2nd finger", "medially deviate index finger", "medially deviated index finger", "second finger ulnar deviation", "ulnar angulation of the index finger", "ulnar deviation of index finger", "ulnar deviation of index fingers" ], "HP:0004102": [ "ulnar deviation of the 2nd finger", "medially deviate index finger", "medially deviated index finger", "second finger ulnar deviation", "ulnar angulation of the index finger", "ulnar deviation of index finger", "ulnar deviation of index fingers" ], "HP:0005811": [ "ulnar deviation of the 2nd finger", "medially deviate index finger", "medially deviated index finger", "second finger ulnar deviation", "ulnar angulation of the index finger", "ulnar deviation of index finger", "ulnar deviation of index fingers" ], "HP:0009465": [ "ulnar deviation of finger", "finger bend toward pinky", "finger bends toward pinky", "ulnar drift" ], "HP:0001200": [ "ulnar deviation of finger", "finger bend toward pinky", "finger bends toward pinky", "ulnar drift" ], "HP:0004096": [ "ulnar deviation of finger", "finger bend toward pinky", "finger bends toward pinky", "ulnar drift" ], "HP:0009466": [ "radial deviation of finger", "radially deviate finger", "radially deviated fingers", "radially deviate phalanx", "radially deviated phalanges" ], "HP:0001157": [ "radial deviation of finger", "radially deviate finger", "radially deviated fingers", "radially deviate phalanx", "radially deviated phalanges" ], "HP:0001213": [ "radial deviation of finger", "radially deviate finger", "radially deviated fingers", "radially deviate phalanx", "radially deviated phalanges" ], "HP:0001503": [ "radial deviation of finger", "radially deviate finger", "radially deviated fingers", "radially deviate phalanx", "radially deviated phalanges" ], "HP:0009467": [ "radial deviation of the 2nd finger", "radially deviate index finger", "radially deviated index finger" ], "HP:0004103": [ "radial deviation of the 2nd finger", "radially deviate index finger", "radially deviated index finger" ], "HP:0006053": [ "radial deviation of the 2nd finger", "radially deviate index finger", "radially deviated index finger" ], "HP:0009468": [ "deviation of the 2nd finger", "deviate index finger", "deviated index finger", "displaced index finger" ], "HP:0004101": [ "deviation of the 2nd finger", "deviate index finger", "deviated index finger", "displaced index finger" ], "HP:0009469": [ "contracture of the distal interphalangeal joint of the 3rd finger", "contracture of the outermost hinge joint of the 3rd finger" ], "HP:0009470": [ "contracture of the metacarpophalangeal joint of the 3rd finger" ], "HP:0009471": [ "contracture of the proximal interphalangeal joint of the 3rd finger", "camptodactyly of the 3rd finger", "camptodactyly of the third finger" ], "HP:0009473": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0001160": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0001237": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0004094": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0005814": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0006096": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0006173": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0006215": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0006238": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0006255": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0009409": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0009472": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0010563": [ "joint contracture of the hand", "contracture involve the hand", "contractures involving the hands", "contracture of the hand", "contractures of the hands" ], "HP:0009477": [ "proximal / middle symphalangism of 4th finger", "fuse innermost and middle bone of fourth finger", "fused innermost and middle bone of fourth finger" ], "HP:0009476": [ "proximal / middle symphalangism of 4th finger", "fuse innermost and middle bone of fourth finger", "fused innermost and middle bone of fourth finger" ], "HP:0009478": [ "symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal", "fuse innermost bone of ring finger with 4th long bone of hand", "fused innermost bone of ring finger with 4th long bone of hand" ], "HP:0009482": [ "proximal / middle symphalangism of 3rd finger", "fuse of innermost and middle bone of middle finger", "fused of innermost and middle bones of middle finger" ], "HP:0009481": [ "proximal / middle symphalangism of 3rd finger", "fuse of innermost and middle bone of middle finger", "fused of innermost and middle bones of middle finger" ], "HP:0009483": [ "symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal", "fuse innermost bone of middle finger with middle long bone of hand", "fused innermost bones of middle finger with middle long bone of hand" ], "HP:0009484": [ "deviation of the hand or of finger of the hand", "deviation of the hand or of fingers of the hand", "displaced hand or finger of the hand", "displaced hand or fingers of the hand" ], "HP:0009485": [ "radial deviation of the hand or of finger of the hand", "radial deviation of the hand or of fingers of the hand" ], "HP:0009486": [ "radial deviation of the hand", "radial deviation of hand", "radial deviation of hands" ], "HP:0001203": [ "radial deviation of the hand", "radial deviation of hand", "radial deviation of hands" ], "HP:0009487": [ "ulnar deviation of the hand", "ulnar deviation of hand", "ulnar deviation of hands", "ulnar deviation of the hands" ], "HP:0009488": [ "absent epiphysis of the 2nd finger", "absent epiphyses of the 2nd finger", "absent end part of index finger" ], "HP:0009489": [ "bracket epiphysis of the 2nd finger", "bracket epiphyses of the 2nd finger", "bracket shape end part of index finger", "bracket shaped end part of index finger", "bracket - epiphysis of index finger", "bracket - epiphyses of index finger" ], "HP:0004109": [ "bracket epiphysis of the 2nd finger", "bracket epiphyses of the 2nd finger", "bracket shape end part of index finger", "bracket shaped end part of index finger", "bracket - epiphysis of index finger", "bracket - epiphyses of index finger" ], "HP:0009490": [ "cone - shaped epiphysis of the 2nd finger", "cone - shaped epiphyses of the 2nd finger", "cone - shaped end part of the index finger" ], "HP:0009491": [ "enlarged epiphysis of the 2nd finger", "enlarged epiphyses of the 2nd finger", "enlarged end part of the index finger" ], "HP:0009492": [ "fragmentation of the epiphysis of the 2nd finger", "fragmentation of the epiphyses of the 2nd finger", "fragmentation of end part of the index finger" ], "HP:0009493": [ "irregular epiphysis of the 2nd finger", "irregular epiphyses of the 2nd finger", "irregular end part of the index finger" ], "HP:0009494": [ "ivory epiphysis of the 2nd finger", "ivory epiphyses of the 2nd finger", "increase bone density of end part of the index finger bone", "increased bone density of end part of the index finger bone" ], "HP:0009495": [ "pseudoepiphyses of the 2nd finger", "accessory index finger phalanx", "accessory index finger phalanges" ], "HP:0004107": [ "pseudoepiphyses of the 2nd finger", "accessory index finger phalanx", "accessory index finger phalanges" ], "HP:0006142": [ "pseudoepiphyses of the 2nd finger", "accessory index finger phalanx", "accessory index finger phalanges" ], "HP:0009496": [ "small epiphysis of the 2nd finger", "small epiphyses of the 2nd finger", "small end part of the index finger" ], "HP:0009497": [ "stippling of the epiphysis of the 2nd finger", "stippling of the epiphyses of the 2nd finger", "speckled calcification in end part of the index finger", "speckled calcifications in end part of the index finger" ], "HP:0009498": [ "triangular epiphysis of the 2nd finger", "triangular epiphyses of the 2nd finger", "triangular end part of the index finger" ], "HP:0009499": [ "abnormality of the epiphysis of the distal phalanx of the 2nd finger", "abnormality of the end part of the outermost bone of the index finger", "epiphyseal abnormality of terminal index finger phalanx" ], "HP:0004146": [ "abnormality of the epiphysis of the distal phalanx of the 2nd finger", "abnormality of the end part of the outermost bone of the index finger", "epiphyseal abnormality of terminal index finger phalanx" ], "HP:0009500": [ "abnormality of the epiphysis of the middle phalanx of the 2nd finger", "abnormality of end part of the middle bone of the index finger", "epiphyseal abnormality of middle phalanx of the 2nd finger" ], "HP:0004135": [ "abnormality of the epiphysis of the middle phalanx of the 2nd finger", "abnormality of end part of the middle bone of the index finger", "epiphyseal abnormality of middle phalanx of the 2nd finger" ], "HP:0009501": [ "abnormality of the epiphysis of the proximal phalanx of the 2nd finger", "epiphyseal abnormality of the proximal phalanx of the 2nd finger" ], "HP:0004127": [ "abnormality of the epiphysis of the proximal phalanx of the 2nd finger", "epiphyseal abnormality of the proximal phalanx of the 2nd finger" ], "HP:0009502": [ "absent epiphysis of the distal phalanx of the 2nd finger", "absent end part of the outermost bone of the index finger", "absent ossification / absent epiphysis of terminal index finger phalanx" ], "HP:0004147": [ "absent epiphysis of the distal phalanx of the 2nd finger", "absent end part of the outermost bone of the index finger", "absent ossification / absent epiphysis of terminal index finger phalanx" ], "HP:0009503": [ "bracket epiphysis of the distal phalanx of the 2nd finger", "bracket shape end part of the outermost bone of the index finger", "bracket shaped end part of the outermost bone of the index finger" ], "HP:0009504": [ "cone - shaped epiphysis of the distal phalanx of the 2nd finger", "cone - shaped end part of the outermost bone of the index finger" ], "HP:0009505": [ "enlarged epiphysis of the distal phalanx of the 2nd finger", "enlarged end part of the outermost bone of the index finger" ], "HP:0009506": [ "fragmentation of the epiphysis of the distal phalanx of the 2nd finger", "fragmentation of end part of the outermost bone of the index finger" ], "HP:0009507": [ "irregular epiphysis of the distal phalanx of the 2nd finger", "irregular end part of the outermost bone of the index finger" ], "HP:0009508": [ "ivory epiphysis of the distal phalanx of the 2nd finger", "increase bone density of end part of the outermost bone of the index finger", "increased bone density of end part of the outermost bone of the index finger", "ivory epiphysis of terminal index finger phalanx" ], "HP:0004148": [ "ivory epiphysis of the distal phalanx of the 2nd finger", "increase bone density of end part of the outermost bone of the index finger", "increased bone density of end part of the outermost bone of the index finger", "ivory epiphysis of terminal index finger phalanx" ], "HP:0009509": [ "pseudoepiphysis of the distal phalanx of the 2nd finger" ], "HP:0009510": [ "small epiphysis of the distal phalanx of the 2nd finger", "small end part of the outermost bone of the index finger" ], "HP:0009511": [ "stippling of the epiphysis of the distal phalanx of the 2nd finger", "speckled calcification in end part of the outermost bone of the index finger", "speckled calcifications in end part of the outermost bone of the index finger" ], "HP:0009512": [ "triangular epiphysis of the distal phalanx of the 2nd finger", "triangular end part of the outermost bone of the index finger" ], "HP:0009513": [ "absent epiphysis of the middle phalanx of the 2nd finger", "absent epiphysis of middle phalanx of index finger", "absent epiphyses of middle phalanx of index finger", "miss end part of the middle long bone of the index finger", "missing end part of the middle long bone of the index finger" ], "HP:0004136": [ "absent epiphysis of the middle phalanx of the 2nd finger", "absent epiphysis of middle phalanx of index finger", "absent epiphyses of middle phalanx of index finger", "miss end part of the middle long bone of the index finger", "missing end part of the middle long bone of the index finger" ], "HP:0009514": [ "bracket epiphysis of the middle phalanx of the 2nd finger", "bracket shape end part of the middle long bone of the index finger", "bracket shaped end part of the middle long bone of the index finger" ], "HP:0009515": [ "cone - shaped epiphysis of the middle phalanx of the 2nd finger", "cone - shaped end part of the middle long bone of the index finger", "cone - shaped epiphysis of middle phalanx of index finger", "cone - shaped epiphyses of middle phalanx of index finger" ], "HP:0004137": [ "cone - shaped epiphysis of the middle phalanx of the 2nd finger", "cone - shaped end part of the middle long bone of the index finger", "cone - shaped epiphysis of middle phalanx of index finger", "cone - shaped epiphyses of middle phalanx of index finger" ], "HP:0009516": [ "enlarged epiphysis of the middle phalanx of the 2nd finger", "enlarged end part of the middle bone of the index finger" ], "HP:0009517": [ "fragmentation of the epiphysis of the middle phalanx of the 2nd finger", "fragmentation of end part of the middle long bone of the index finger" ], "HP:0009518": [ "irregular epiphysis of the middle phalanx of the 2nd finger", "irregular end part of the middle long bone of the index finger" ], "HP:0009519": [ "ivory epiphysis of the middle phalanx of the 2nd finger", "increase bone density of end part of the middle bone of the index finger", "increased bone density of end part of the middle bone of the index finger" ], "HP:0009520": [ "pseudoepiphysis of the middle phalanx of the 2nd finger" ], "HP:0009521": [ "small epiphysis of the middle phalanx of the 2nd finger", "small end part of the innermost long bone of index finger" ], "HP:0009522": [ "stippling of the epiphysis of the middle phalanx of the 2nd finger", "speckled calcification in end part of the middle bone of the index finger", "speckled calcifications in end part of the middle bone of the index finger" ], "HP:0009523": [ "triangular epiphysis of the middle phalanx of the 2nd finger", "triangular end part of the middle bone of the index finger" ], "HP:0009524": [ "absent epiphysis of the proximal phalanx of the 2nd finger", "absent end part of innermost long bone of index finger" ], "HP:0009525": [ "bracket epiphysis of the proximal phalanx of the 2nd finger", "bracket epiphysis of proximal index finger phalanx", "bracket epiphyses of proximal index finger phalanx", "bracket shape end part of innermost long bone of index finger", "bracket shaped end part of innermost long bone of index finger" ], "HP:0004120": [ "bracket epiphysis of the proximal phalanx of the 2nd finger", "bracket epiphysis of proximal index finger phalanx", "bracket epiphyses of proximal index finger phalanx", "bracket shape end part of innermost long bone of index finger", "bracket shaped end part of innermost long bone of index finger" ], "HP:0009526": [ "cone - shaped epiphysis of the proximal phalanx of the 2nd finger", "cone - shaped end part of innermost long bone of index finger", "cone - shaped epiphysis of proximal index finger phalanx" ], "HP:0004128": [ "cone - shaped epiphysis of the proximal phalanx of the 2nd finger", "cone - shaped end part of innermost long bone of index finger", "cone - shaped epiphysis of proximal index finger phalanx" ], "HP:0009527": [ "enlarged epiphysis of the proximal phalanx of the 2nd finger", "enlarged end part of innermost long bone of index finger", "large epiphysis of proximal index finger phalanx" ], "HP:0004129": [ "enlarged epiphysis of the proximal phalanx of the 2nd finger", "enlarged end part of innermost long bone of index finger", "large epiphysis of proximal index finger phalanx" ], "HP:0009528": [ "fragmentation of the epiphysis of the proximal phalanx of the 2nd finger", "fragmentation of end part of innermost long bone of index finger" ], "HP:0009529": [ "irregular epiphysis of the proximal phalanx of the 2nd finger", "irregular end part of innermost long bone of index finger" ], "HP:0009530": [ "ivory epiphysis of the proximal phalanx of the 2nd finger", "increase bone density of end part of the innermost bone of the index finger", "increased bone density of end part of the innermost bone of the index finger" ], "HP:0009531": [ "pseudoepiphysis of the proximal phalanx of the 2nd finger" ], "HP:0009532": [ "small epiphysis of the proximal phalanx of the 2nd finger", "small end part of proximal long bond of index finger" ], "HP:0009533": [ "stippling of the epiphysis of the proximal phalanx of the 2nd finger", "speckled calcification in end part of the innermost long bone of index finger", "speckled calcifications in end part of the innermost long bone of index finger" ], "HP:0009534": [ "triangular epiphysis of the proximal phalanx of the 2nd finger", "triangular end part of innermost long bone of index finger", "triangular epiphysis of proximal index finger phalanx" ], "HP:0004130": [ "triangular epiphysis of the proximal phalanx of the 2nd finger", "triangular end part of innermost long bone of index finger", "triangular epiphysis of proximal index finger phalanx" ], "HP:0009535": [ "aplasia of the 2nd finger", "absent index finger", "absent index finger phalanx", "absent index finger phalanges", "aplasia of the index finger" ], "HP:0004106": [ "aplasia of the 2nd finger", "absent index finger", "absent index finger phalanx", "absent index finger phalanges", "aplasia of the index finger" ], "HP:0009536": [ "short 2nd finger", "hypoplastic index finger phalanx", "hypoplastic index finger phalanges", "hypoplastic / small index finger", "short index finger", "short index finger phalanx", "short index finger phalanges", "short index fingers" ], "HP:0004104": [ "short 2nd finger", "hypoplastic index finger phalanx", "hypoplastic index finger phalanges", "hypoplastic / small index finger", "short index finger", "short index finger phalanx", "short index finger phalanges", "short index fingers" ], "HP:0004113": [ "short 2nd finger", "hypoplastic index finger phalanx", "hypoplastic index finger phalanges", "hypoplastic / small index finger", "short index finger", "short index finger phalanx", "short index finger phalanges", "short index fingers" ], "HP:0004115": [ "short 2nd finger", "hypoplastic index finger phalanx", "hypoplastic index finger phalanges", "hypoplastic / small index finger", "short index finger", "short index finger phalanx", "short index finger phalanges", "short index fingers" ], "HP:0005796": [ "short 2nd finger", "hypoplastic index finger phalanx", "hypoplastic index finger phalanges", "hypoplastic / small index finger", "short index finger", "short index finger phalanx", "short index finger phalanges", "short index fingers" ], "HP:0009537": [ "flexion contracture of the 2nd finger", "joint contracture of the 2nd finger", "joint contractures of the 2nd finger" ], "HP:0009538": [ "contracture of the distal interphalangeal joint of the 2nd finger" ], "HP:0009539": [ "contracture of the metacarpophalangeal joint of the 2nd finger" ], "HP:0009540": [ "contracture of the proximal interphalangeal joint of the 2nd finger", "camptodactyly of 2nd finger", "camptodactyly of index finger", "camptodactyly of second finger" ], "HP:0009541": [ "abnormality of the phalanx of the 2nd finger", "abnormality of the phalanges of the 2nd finger", "abnormal index finger bone", "abnormal index finger bones", "abnormality of 2nd finger phalanx", "abnormality of 2nd finger phalanges" ], "HP:0004105": [ "abnormality of the phalanx of the 2nd finger", "abnormality of the phalanges of the 2nd finger", "abnormal index finger bone", "abnormal index finger bones", "abnormality of 2nd finger phalanx", "abnormality of 2nd finger phalanges" ], "HP:0009542": [ "abnormality of the distal phalanx of the 2nd finger", "abnormality of terminal index finger phalanx", "abnormality of the outermost bone of the 2nd finger" ], "HP:0004111": [ "abnormality of the distal phalanx of the 2nd finger", "abnormality of terminal index finger phalanx", "abnormality of the outermost bone of the 2nd finger" ], "HP:0004140": [ "abnormality of the distal phalanx of the 2nd finger", "abnormality of terminal index finger phalanx", "abnormality of the outermost bone of the 2nd finger" ], "HP:0009543": [ "abnormality of the middle phalanx of the 2nd finger", "abnormal middle index finger bone", "abnormality of middle 2nd finger phalanx" ], "HP:0004131": [ "abnormality of the middle phalanx of the 2nd finger", "abnormal middle index finger bone", "abnormality of middle 2nd finger phalanx" ], "HP:0009544": [ "abnormality of the proximal phalanx of the 2nd finger", "abnormal innermost index finger bone", "abnormality of the proximal 2nd finger phalanx" ], "HP:0004119": [ "abnormality of the proximal phalanx of the 2nd finger", "abnormal innermost index finger bone", "abnormality of the proximal 2nd finger phalanx" ], "HP:0009545": [ "symphalangism of the 2nd finger", "fuse index finger bone", "fused index finger bones", "symphalangism of index finger phalanx", "symphalangism of index finger phalanges" ], "HP:0004116": [ "symphalangism of the 2nd finger", "fuse index finger bone", "fused index finger bones", "symphalangism of index finger phalanx", "symphalangism of index finger phalanges" ], "HP:0009546": [ "triangular shape phalanx of the 2nd finger", "triangular shaped phalanges of the 2nd finger", "triangular bone of index finger", "triangular bones of index finger", "triangular index finger phalanx", "triangular index finger phalanges" ], "HP:0004117": [ "triangular shape phalanx of the 2nd finger", "triangular shaped phalanges of the 2nd finger", "triangular bone of index finger", "triangular bones of index finger", "triangular index finger phalanx", "triangular index finger phalanges" ], "HP:0009547": [ "broad phalanx of the 2nd finger", "broad phalanges of the 2nd finger", "wide index finger bone", "wide index finger bones", "wide / broad index finger phalanx", "wide / broad index finger phalanges" ], "HP:0004118": [ "broad phalanx of the 2nd finger", "broad phalanges of the 2nd finger", "wide index finger bone", "wide index finger bones", "wide / broad index finger phalanx", "wide / broad index finger phalanges" ], "HP:0009548": [ "bullet - shaped phalanx of the 2nd finger", "bullet - shaped phalanges of the 2nd finger", "bullet - shaped index finger bone", "bullet - shaped index finger bones" ], "HP:0009549": [ "curve phalanx of the 2nd finger", "curved phalanges of the 2nd finger", "curve index finger bone", "curved index finger bones" ], "HP:0009550": [ "osteolytic defect of the phalanx of the 2nd finger", "osteolytic defects of the phalanges of the 2nd finger", "lytic defect in index finger phalanx", "lytic defect in index finger phalanges" ], "HP:0004114": [ "osteolytic defect of the phalanx of the 2nd finger", "osteolytic defects of the phalanges of the 2nd finger", "lytic defect in index finger phalanx", "lytic defect in index finger phalanges" ], "HP:0009551": [ "patchy sclerosis of 2nd finger phalanx", "patchy sclerosis of the phalanx of the 2nd finger", "patchy sclerosis of the phalanges of the 2nd finger", "uneven increase in bone density in index finger bone" ], "HP:0009552": [ "aplasia / hypoplasia of the phalanx of the 2nd finger", "aplasia / hypoplasia of the phalanges of the 2nd finger", "absent / small index finger bone", "absent / underdevelop index finger bone", "absent / underdeveloped index finger bone" ], "HP:0009553": [ "abnormality of the hairline" ], "HP:0009554": [ "preauricular hair displacement", "hair displacement , preauricular , towards lateral cheekbone", "hair grow down to cheek", "hair growing down to cheek", "projection of scalp hair onto lateral cheek" ], "HP:0009555": [ "hypoplasia of the pharynx", "decrease diameter of pharynx", "decreased diameter of pharynx", "decreased length of pharynx", "decreased size of pharynx", "decreased volume of pharynx", "decrease width of pharynx", "decreased width of pharynx", "hypotrophic pharynx", "small pharynx", "underdevelopment of pharynx" ], "HP:0009556": [ "absent tibia", "absent shankbone", "absent shinbone", "aplasia of the tibia" ], "HP:0009557": [ "aplasia / hypoplasia of the distal phalanx of the 2nd finger", "absent / small outermost index finger bone", "absent / underdevelop outermost index finger bone", "absent / underdeveloped outermost index finger bone" ], "HP:0009558": [ "broad distal phalanx of the 2nd finger", "wide outermost bone of the index finger" ], "HP:0009559": [ "bullet - shaped distal phalanx of the 2nd finger", "bullet - shape outermost bone of the index finger", "bullet - shaped outermost bone of the index finger" ], "HP:0009560": [ "curve distal phalanx of the 2nd finger", "curved distal phalanx of the 2nd finger", "curve outermost bone of the index finger", "curved outermost bone of the index finger" ], "HP:0009561": [ "osteolytic defect of the distal phalanx of the 2nd finger", "osteolytic defects of the distal phalanx of the 2nd finger", "acro - osteolysis of index finger", "acro - osteolysis of terminal index finger phalanx", "osteolytic defect of the outermost bone of the 2nd finger", "osteolytic defects of the outermost bone of the 2nd finger" ], "HP:0004108": [ "osteolytic defect of the distal phalanx of the 2nd finger", "osteolytic defects of the distal phalanx of the 2nd finger", "acro - osteolysis of index finger", "acro - osteolysis of terminal index finger phalanx", "osteolytic defect of the outermost bone of the 2nd finger", "osteolytic defects of the outermost bone of the 2nd finger" ], "HP:0004142": [ "osteolytic defect of the distal phalanx of the 2nd finger", "osteolytic defects of the distal phalanx of the 2nd finger", "acro - osteolysis of index finger", "acro - osteolysis of terminal index finger phalanx", "osteolytic defect of the outermost bone of the 2nd finger", "osteolytic defects of the outermost bone of the 2nd finger" ], "HP:0009562": [ "patchy sclerosis of the distal phalanx of the 2nd finger", "uneven increase in bone density in the outermost bone of the 2nd finger" ], "HP:0009563": [ "distal / middle symphalangism of 2nd finger", "fuse outermost and middle index finger bone", "fused outermost and middle index finger bones", "symphalangism of the distal and middle phalanx of the 2nd finger", "symphalangism of the distal and middle phalanges of the 2nd finger" ], "HP:0009567": [ "distal / middle symphalangism of 2nd finger", "fuse outermost and middle index finger bone", "fused outermost and middle index finger bones", "symphalangism of the distal and middle phalanx of the 2nd finger", "symphalangism of the distal and middle phalanges of the 2nd finger" ], "HP:0009578": [ "distal / middle symphalangism of 2nd finger", "fuse outermost and middle index finger bone", "fused outermost and middle index finger bones", "symphalangism of the distal and middle phalanx of the 2nd finger", "symphalangism of the distal and middle phalanges of the 2nd finger" ], "HP:0009564": [ "triangular shape distal phalanx of the 2nd finger", "triangular shaped distal phalanx of the 2nd finger", "triangular shape outermost bone of the 2nd finger", "triangular shaped outermost bone of the 2nd finger" ], "HP:0009565": [ "aplasia of the distal phalanx of the 2nd finger", "absent outermost index finger bone", "absent terminal index finger phalanx" ], "HP:0004141": [ "aplasia of the distal phalanx of the 2nd finger", "absent outermost index finger bone", "absent terminal index finger phalanx" ], "HP:0005748": [ "aplasia of the distal phalanx of the 2nd finger", "absent outermost index finger bone", "absent terminal index finger phalanx" ], "HP:0009566": [ "short distal phalanx of the 2nd finger", "hypoplastic terminal index finger phalanx", "hypoplastic / small distal phalanx of the 2nd finger", "short distal phalanx of the second finger", "short outermost bone of the index finger", "short terminal index finger phalanx" ], "HP:0004145": [ "short distal phalanx of the 2nd finger", "hypoplastic terminal index finger phalanx", "hypoplastic / small distal phalanx of the 2nd finger", "short distal phalanx of the second finger", "short outermost bone of the index finger", "short terminal index finger phalanx" ], "HP:0009568": [ "aplasia / hypoplasia of the middle phalanx of the 2nd finger", "absent / hypoplastic middle phalanx of 2nd finger", "absent / small middle index finger bone", "absent / underdevelop middle index finger bone", "absent / underdeveloped middle index finger bone", "hypoplastic / aplastic middle phalanx of index finger" ], "HP:0006221": [ "aplasia / hypoplasia of the middle phalanx of the 2nd finger", "absent / hypoplastic middle phalanx of 2nd finger", "absent / small middle index finger bone", "absent / underdevelop middle index finger bone", "absent / underdeveloped middle index finger bone", "hypoplastic / aplastic middle phalanx of index finger" ], "HP:0009569": [ "broad middle phalanx of the 2nd finger", "broad middle bone of the index finger" ], "HP:0009570": [ "bullet - shape middle phalanx of the 2nd finger", "bullet - shaped middle phalanx of the 2nd finger", "bullet - shape middle bone of index finger", "bullet - shaped middle bone of index finger" ], "HP:0009571": [ "curve middle phalanx of the 2nd finger", "curved middle phalanx of the 2nd finger", "curve middle bone of the index finger", "curved middle bone of the index finger" ], "HP:0009572": [ "osteolytic defect of the middle phalanx of the 2nd finger", "osteolytic defects of the middle phalanx of the 2nd finger", "lytic defect of middle index finger phalanx", "lytic defects of middle index finger phalanx" ], "HP:0004134": [ "osteolytic defect of the middle phalanx of the 2nd finger", "osteolytic defects of the middle phalanx of the 2nd finger", "lytic defect of middle index finger phalanx", "lytic defects of middle index finger phalanx" ], "HP:0009573": [ "patchy sclerosis of the middle phalanx of the 2nd finger", "uneven increase in bone density in the middle bone of the index finger" ], "HP:0009574": [ "symphalangism of middle phalanx of 2nd finger", "fuse middle bone of index finger", "fused middle bone of index finger" ], "HP:0009575": [ "triangular shape middle phalanx of the 2nd finger", "triangular shaped middle phalanx of the 2nd finger", "triangular shape middle bone of index finger", "triangular shaped middle bone of index finger" ], "HP:0009576": [ "absent middle phalanx of 2nd finger", "absent middle bone of index finger", "absent middle phalanx of index finger", "aplasia of the middle phalanx of the 2nd finger" ], "HP:0005760": [ "absent middle phalanx of 2nd finger", "absent middle bone of index finger", "absent middle phalanx of index finger", "aplasia of the middle phalanx of the 2nd finger" ], "HP:0009577": [ "short middle phalanx of the 2nd finger", "brachymesophalangy ii ( finger )", "hypoplastic middle index finger phalanx", "hypoplastic / small middle phalanx of the 2nd finger", "short middle bone of index finger" ], "HP:0004133": [ "short middle phalanx of the 2nd finger", "brachymesophalangy ii ( finger )", "hypoplastic middle index finger phalanx", "hypoplastic / small middle phalanx of the 2nd finger", "short middle bone of index finger" ], "HP:0009579": [ "proximal / middle symphalangism of the 2nd finger", "fuse innermost and middle index finger bone", "fused innermost and middle index finger bones" ], "HP:0009580": [ "aplasia / hypoplasia of the proximal phalanx of the 2nd finger", "absent / small innermost index finger bone", "absent / underdevelop innermost index finger bone", "absent / underdeveloped innermost index finger bone" ], "HP:0009581": [ "broad proximal phalanx of the 2nd finger", "wide innermost bone of index finger", "wide / broad proximal index finger phalanx" ], "HP:0004126": [ "broad proximal phalanx of the 2nd finger", "wide innermost bone of index finger", "wide / broad proximal index finger phalanx" ], "HP:0009582": [ "bullet - shape proximal phalanx of the 2nd finger", "bullet - shaped proximal phalanx of the 2nd finger", "bullet - shape innermost bone of index finger", "bullet - shaped innermost bone of index finger" ], "HP:0009583": [ "curve proximal phalanx of the 2nd finger", "curved proximal phalanx of the 2nd finger", "curve innermost bone of index finger", "curved innermost bone of index finger" ], "HP:0009584": [ "osteolytic defect of the proximal phalanx of the 2nd finger", "osteolytic defects of the proximal phalanx of the 2nd finger", "lytic defect of proximal index finger phalanx", "lytic defects of proximal index finger phalanx" ], "HP:0004123": [ "osteolytic defect of the proximal phalanx of the 2nd finger", "osteolytic defects of the proximal phalanx of the 2nd finger", "lytic defect of proximal index finger phalanx", "lytic defects of proximal index finger phalanx" ], "HP:0009585": [ "patchy sclerosis of the proximal phalanx of the 2nd finger", "uneven increase in bone density in innermost index finger bone" ], "HP:0009586": [ "symphalangism affect the proximal phalanx of the 2nd finger", "symphalangism affecting the proximal phalanx of the 2nd finger", "fuse innermost bone of index finger", "fused innermost bone of index finger" ], "HP:0009587": [ "triangular shape proximal phalanx of the 2nd finger", "triangular shaped proximal phalanx of the 2nd finger", "triangular proximal index finger phalanx", "triangular shape innermost bone of index finger", "triangular shaped innermost bone of index finger" ], "HP:0004125": [ "triangular shape proximal phalanx of the 2nd finger", "triangular shaped proximal phalanx of the 2nd finger", "triangular proximal index finger phalanx", "triangular shape innermost bone of index finger", "triangular shaped innermost bone of index finger" ], "HP:0009588": [ "vestibular schwannoma", "acoustic neuroma", "vestibular neurilemmoma", "vestibular neurinoma", "vestibular neurolemmoma", "vestibular schwann cell tumor", "vestibular schwann cell tumour" ], "HP:0009589": [ "bilateral vestibular schwannoma", "bilateral acoustic neuroma", "bilateral acoustic neuromas" ], "HP:0009590": [ "unilateral vestibular schwannoma" ], "HP:0009591": [ "abnormality of the vestibulocochlear nerve", "abnormality of the eighth cranial nerve", "abnormality of the viiith cranial nerve" ], "HP:0009592": [ "astrocytoma" ], "HP:0009593": [ "peripheral schwannoma" ], "HP:0009594": [ "retinal hamartoma" ], "HP:0009595": [ "occasional neurofibroma", "occasional neurofibromas" ], "HP:0009596": [ "aplasia of the proximal phalanx of the 2nd finger", "absent innermost bone of index finger" ], "HP:0009597": [ "short proximal phalanx of the 2nd finger", "hypoplastic / small proximal phalanx of the 2nd finger", "short proximal index finger phalanx", "short proximal phalanx of the second finger" ], "HP:0004124": [ "short proximal phalanx of the 2nd finger", "hypoplastic / small proximal phalanx of the 2nd finger", "short proximal index finger phalanx", "short proximal phalanx of the second finger" ], "HP:0009598": [ "symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal", "fuse innermost bone of index finger with 2nd long bone of hand", "fused innermost bone of index finger with 2nd long bone of hand" ], "HP:0009599": [ "abnormality of thumb epiphysis", "abnormality of end part of thumb long bone", "abnormality of the epiphysis of the thumb", "abnormality of the epiphyses of the thumb", "abnormality of thumb epiphyses" ], "HP:0004074": [ "abnormality of thumb epiphysis", "abnormality of end part of thumb long bone", "abnormality of the epiphysis of the thumb", "abnormality of the epiphyses of the thumb", "abnormality of thumb epiphyses" ], "HP:0009600": [ "flexion contracture of thumb", "contracture of thumb", "flexion deformity of thumb", "flexion deformities of thumbs", "joint contracture of the thumb", "joint contractures of the thumb" ], "HP:0004061": [ "flexion contracture of thumb", "contracture of thumb", "flexion deformity of thumb", "flexion deformities of thumbs", "joint contracture of the thumb", "joint contractures of the thumb" ], "HP:0006043": [ "flexion contracture of thumb", "contracture of thumb", "flexion deformity of thumb", "flexion deformities of thumbs", "joint contracture of the thumb", "joint contractures of the thumb" ], "HP:0009601": [ "aplasia / hypoplasia of the thumb", "absent or hypoplastic thumb", "absent or hypoplastic thumbs", "absent / hypoplastic thumb", "absent / hypoplastic thumbs", "absent / small thumb", "absent / underdevelop thumb", "absent / underdeveloped thumb", "aplasia / hypoplasia of thumb", "aplasia / hypoplasia of thumbs", "aplastic / hypoplastic thumb", "aplastic / hypoplastic thumbs", "hypoplastic to aplastic thumb", "hypoplastic to aplastic thumbs", "hypoplastic / absent thumb", "thumb aplasia / hypoplasia" ], "HP:0002950": [ "aplasia / hypoplasia of the thumb", "absent or hypoplastic thumb", "absent or hypoplastic thumbs", "absent / hypoplastic thumb", "absent / hypoplastic thumbs", "absent / small thumb", "absent / underdevelop thumb", "absent / underdeveloped thumb", "aplasia / hypoplasia of thumb", "aplasia / hypoplasia of thumbs", "aplastic / hypoplastic thumb", "aplastic / hypoplastic thumbs", "hypoplastic to aplastic thumb", "hypoplastic to aplastic thumbs", "hypoplastic / absent thumb", "thumb aplasia / hypoplasia" ], "HP:0006225": [ "aplasia / hypoplasia of the thumb", "absent or hypoplastic thumb", "absent or hypoplastic thumbs", "absent / hypoplastic thumb", "absent / hypoplastic thumbs", "absent / small thumb", "absent / underdevelop thumb", "absent / underdeveloped thumb", "aplasia / hypoplasia of thumb", "aplasia / hypoplasia of thumbs", "aplastic / hypoplastic thumb", "aplastic / hypoplastic thumbs", "hypoplastic to aplastic thumb", "hypoplastic to aplastic thumbs", "hypoplastic / absent thumb", "thumb aplasia / hypoplasia" ], "HP:0009602": [ "abnormality of thumb phalanx", "abnormality of the thumb bone", "abnormality of the thumb bones", "abnormality of thumb phalanges" ], "HP:0004063": [ "abnormality of thumb phalanx", "abnormality of the thumb bone", "abnormality of the thumb bones", "abnormality of thumb phalanges" ], "HP:0004064": [ "abnormality of thumb phalanx", "abnormality of the thumb bone", "abnormality of the thumb bones", "abnormality of thumb phalanges" ], "HP:0009603": [ "deviation of the thumb", "abnormal thumb placement", "deviate thumb", "deviated thumb", "displacement of the thumb" ], "HP:0004062": [ "deviation of the thumb", "abnormal thumb placement", "deviate thumb", "deviated thumb", "displacement of the thumb" ], "HP:0009606": [ "complete duplication of distal phalanx of the thumb", "complete duplication of outermost bone of the thumb" ], "HP:0004084": [ "complete duplication of distal phalanx of the thumb", "complete duplication of outermost bone of the thumb" ], "HP:0005784": [ "complete duplication of distal phalanx of the thumb", "complete duplication of outermost bone of the thumb" ], "HP:0009608": [ "complete duplication of proximal phalanx of the thumb", "complete duplication of the innermost bone of the thumb" ], "HP:0004078": [ "complete duplication of proximal phalanx of the thumb", "complete duplication of the innermost bone of the thumb" ], "HP:0009609": [ "duplication of the 1st metacarpal", "partial / complete duplication of the 1st long bone of hand", "partial / complete duplication of the 1st metacarpal" ], "HP:0009611": [ "obsolete bifid thumb distal phalanx", "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0004086": [ "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0005703": [ "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0005827": [ "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0006090": [ "obsolete bifid thumb distal phalanx", "bifid distal phalanx of the thumb", "bifid distal phalanx of thumb", "bifid terminal phalanx of thumb", "bifid terminal phalanges of thumbs", "bifid thumb distal phalanx", "incipient distal thumb phalanx duplication", "notch outermost bone of the thumb", "notched outermost bone of the thumb", "notch outermost bone of thumb", "notched outermost bone of thumb", "notched terminal thumb phalanx" ], "HP:0009612": [ "duplication of the distal phalanx of the thumb", "double thumb distal phalanx", "double thumb distal phalanges", "duplicate terminal phalanx of thumb", "duplicated terminal phalanx of thumb", "duplication of distal thumb phalanx", "duplication of terminal thumb phalanx", "duplication of the outermost bone of the thumb", "partial / complete duplication of the distal phalanx of the thumb" ], "HP:0009613": [ "duplication of the proximal phalanx of the thumb", "notch innermost bone of thumb", "notched innermost bone of thumb", "partial / complete duplication of the proximal phalanx of the thumb" ], "HP:0009614": [ "bifid proximal phalanx of the thumb", "notch thumb bone", "notched thumb bone" ], "HP:0009615": [ "complete duplication of the first metacarpal", "complete duplication of the first long bone of hand" ], "HP:0009616": [ "bifid first metacarpal", "notch first long bone of hand", "notched first long bone of hand", "partial duplication of the first metacarpal" ], "HP:0009617": [ "abnormality of the distal phalanx of the thumb", "abnormality of terminal thumb phalanx", "abnormality of the outermost bone of the thumb" ], "HP:0004081": [ "abnormality of the distal phalanx of the thumb", "abnormality of terminal thumb phalanx", "abnormality of the outermost bone of the thumb" ], "HP:0009618": [ "abnormality of the proximal phalanx of the thumb", "abnormal innermost thumb bone", "abnormality of proximal thumb phalanx" ], "HP:0004076": [ "abnormality of the proximal phalanx of the thumb", "abnormal innermost thumb bone", "abnormality of proximal thumb phalanx" ], "HP:0009620": [ "obsolete radial deviation of the thumb" ], "HP:0009621": [ "obsolete ulnar deviation of the thumb" ], "HP:0009622": [ "distally place thumb", "distally placed thumb" ], "HP:0005755": [ "distally place thumb", "distally placed thumb" ], "HP:0009623": [ "proximal placement of thumb", "attachment of thumb close to wrist", "low implantation of the thumb", "low - set thumb", "proximally place thumb", "proximally placed thumbs" ], "HP:0001170": [ "proximal placement of thumb", "attachment of thumb close to wrist", "low implantation of the thumb", "low - set thumb", "proximally place thumb", "proximally placed thumbs" ], "HP:0005668": [ "proximal placement of thumb", "attachment of thumb close to wrist", "low implantation of the thumb", "low - set thumb", "proximally place thumb", "proximally placed thumbs" ], "HP:0009624": [ "contracture of the carpometacarpal joint of the thumb", "contractures of the carpometacarpal joint of the thumb" ], "HP:0009625": [ "contracture of the metacarpophalangeal joint of the thumb", "contractures of the metacarpophalangeal joint of the thumb" ], "HP:0009626": [ "contracture of the interphalangeal joint of the thumb", "contractures of the interphalangeal joint of the thumb", "interphalangeal extension contracture of thumb", "interphalangeal extension contractures of thumbs" ], "HP:0005697": [ "contracture of the interphalangeal joint of the thumb", "contractures of the interphalangeal joint of the thumb", "interphalangeal extension contracture of thumb", "interphalangeal extension contractures of thumbs" ], "HP:0009629": [ "aplasia / hypoplasia of the proximal phalanx of the thumb", "absent / small innermost thumb bone", "absent / underdevelop innermost thumb bone", "absent / underdeveloped innermost thumb bone" ], "HP:0009630": [ "broad proximal phalanx of the thumb", "broad innermost thumb bone" ], "HP:0009631": [ "bullet - shape proximal phalanx of the thumb", "bullet - shaped proximal phalanx of the thumb", "bullet - shape innermost thumb bone", "bullet - shaped innermost thumb bone" ], "HP:0009632": [ "curve proximal phalanx of the thumb", "curved proximal phalanx of the thumb", "curve innermost thumb bone", "curved innermost thumb bone" ], "HP:0009633": [ "osteolytic defect of the proximal phalanx of the thumb", "osteolytic defects of the proximal phalanx of the thumb" ], "HP:0009634": [ "patchy sclerosis of the proximal phalanx of the thumb", "uneven increase in bone density in the innermost thumb bone" ], "HP:0009635": [ "synostosis of thumb phalanx", "fusion of thumb bone" ], "HP:0009636": [ "triangular shape proximal phalanx of the thumb", "triangular shaped proximal phalanx of the thumb", "triangular innermost thumb bone", "triangular proximal thumb phalanx" ], "HP:0004080": [ "triangular shape proximal phalanx of the thumb", "triangular shaped proximal phalanx of the thumb", "triangular innermost thumb bone", "triangular proximal thumb phalanx" ], "HP:0009637": [ "absent proximal phalanx of thumb", "absent innermost thumb bone", "absent ossification / absent proximal thumb phalanx", "aplasia of the proximal phalanx of the thumb" ], "HP:0004077": [ "absent proximal phalanx of thumb", "absent innermost thumb bone", "absent ossification / absent proximal thumb phalanx", "aplasia of the proximal phalanx of the thumb" ], "HP:0009638": [ "short proximal phalanx of thumb", "hypoplastic / small proximal phalanx of the thumb", "short proximal phalanges of thumb", "short proximal thumb bone", "short proximal thumb phalanx" ], "HP:0004079": [ "short proximal phalanx of thumb", "hypoplastic / small proximal phalanx of the thumb", "short proximal phalanges of thumb", "short proximal thumb bone", "short proximal thumb phalanx" ], "HP:0006073": [ "short proximal phalanx of thumb", "hypoplastic / small proximal phalanx of the thumb", "short proximal phalanges of thumb", "short proximal thumb bone", "short proximal thumb phalanx" ], "HP:0009640": [ "synostosis of the proximal phalanx of the thumb with the 1st metacarpal", "ankylosis of the metacarpophalangeal joint of the thumb", "fusion of the innermost bone of the thumb with the 1st long bone of hand" ], "HP:0009641": [ "aplasia / hypoplasia of the distal phalanx of the thumb", "absent / small outermost thumb bone", "absent / underdevelop outermost thumb bone", "absent / underdeveloped outermost thumb bone" ], "HP:0009642": [ "broad distal phalanx of the thumb", "broad outermost bone of the thumb", "broad terminal thumb phalanx", "wide distal phalanx of thumb", "wide outermost bone of thumb" ], "HP:0004088": [ "broad distal phalanx of the thumb", "broad outermost bone of the thumb", "broad terminal thumb phalanx", "wide distal phalanx of thumb", "wide outermost bone of thumb" ], "HP:0006198": [ "broad distal phalanx of the thumb", "broad outermost bone of the thumb", "broad terminal thumb phalanx", "wide distal phalanx of thumb", "wide outermost bone of thumb" ], "HP:0009643": [ "bullet - shaped distal phalanx of the thumb", "bullet - shape outermost bone of the thumb", "bullet - shaped outermost bone of the thumb" ], "HP:0009644": [ "curve distal phalanx of the thumb", "curved distal phalanx of the thumb", "curve outermost bone of the thumb", "curved outermost bone of the thumb" ], "HP:0009645": [ "osteolytic defect of the distal phalanx of the thumb", "osteolytic defects of the distal phalanx of the thumb", "osteolytic defect of the outermost bone of the thumb", "osteolytic defects of the outermost bone of the thumb" ], "HP:0009646": [ "patchy sclerosis of the distal phalanx of the thumb", "uneven increase in bone density in the outermost bone of the thumb" ], "HP:0009648": [ "triangular shape distal phalanx of the thumb", "triangular shaped distal phalanx of the thumb", "triangular shape outermost bone of the thumb", "triangular shaped outermost bone of the thumb" ], "HP:0009649": [ "aplasia of the distal phalanx of the thumb", "absence of the outermost bone of the thumb", "absent ossification / absent terminal thumb phalanx", "aplasia of the outermost bone of the thumb" ], "HP:0004082": [ "aplasia of the distal phalanx of the thumb", "absence of the outermost bone of the thumb", "absent ossification / absent terminal thumb phalanx", "aplasia of the outermost bone of the thumb" ], "HP:0009650": [ "short distal phalanx of the thumb", "hypoplastic terminal thumb phalanx", "hypoplastic / small distal phalanx of the thumb", "short outermost bone of the thumb", "short terminal thumb phalanx", "short thumb terminal phalanx", "small terminal thumb phalanx" ], "HP:0004085": [ "short distal phalanx of the thumb", "hypoplastic terminal thumb phalanx", "hypoplastic / small distal phalanx of the thumb", "short outermost bone of the thumb", "short terminal thumb phalanx", "short thumb terminal phalanx", "small terminal thumb phalanx" ], "HP:0004087": [ "short distal phalanx of the thumb", "hypoplastic terminal thumb phalanx", "hypoplastic / small distal phalanx of the thumb", "short outermost bone of the thumb", "short terminal thumb phalanx", "short thumb terminal phalanx", "small terminal thumb phalanx" ], "HP:0009652": [ "bullet - shaped thumb phalanx", "bullet - shaped phalanx of the thumb", "bullet - shaped phalanges of the thumb", "bullet - shaped thumb bone" ], "HP:0009653": [ "curve thumb phalanx", "curved thumb phalanx", "curve phalanx of the thumb", "curved phalanges of the thumb", "curve thumb bone", "curved thumb bone" ], "HP:0009654": [ "osteolytic defect of thumb phalanx", "osteolytic defect of the phalanx of the thumb", "osteolytic defects of the phalanges of the thumb" ], "HP:0009655": [ "patchy sclerosis of thumb phalanx", "patchy sclerosis of the phalanx of the thumb", "patchy sclerosis of the phalanges of the thumb", "uneven increase in bone density in thumb bone" ], "HP:0009656": [ "symphalangism of the thumb", "fuse thumb bone", "fused thumb bones", "fuse thumb phalanx", "fused thumb phalanges", "symphalangism of the distal and proximal phalanx of the thumb", "symphalangism of the distal and proximal phalanges of the thumb" ], "HP:0004068": [ "symphalangism of the thumb", "fuse thumb bone", "fused thumb bones", "fuse thumb phalanx", "fused thumb phalanges", "symphalangism of the distal and proximal phalanx of the thumb", "symphalangism of the distal and proximal phalanges of the thumb" ], "HP:0009639": [ "symphalangism of the thumb", "fuse thumb bone", "fused thumb bones", "fuse thumb phalanx", "fused thumb phalanges", "symphalangism of the distal and proximal phalanx of the thumb", "symphalangism of the distal and proximal phalanges of the thumb" ], "HP:0009647": [ "symphalangism of the thumb", "fuse thumb bone", "fused thumb bones", "fuse thumb phalanx", "fused thumb phalanges", "symphalangism of the distal and proximal phalanx of the thumb", "symphalangism of the distal and proximal phalanges of the thumb" ], "HP:0009657": [ "triangular shape thumb phalanx", "triangular shaped thumb phalanx", "triangular shape phalanx of the thumb", "triangular shaped phalanges of the thumb", "triangular shape thumb bone", "triangular shaped thumb bone", "triangular thumb phalanx", "triangular thumb phalanges" ], "HP:0004072": [ "triangular shape thumb phalanx", "triangular shaped thumb phalanx", "triangular shape phalanx of the thumb", "triangular shaped phalanges of the thumb", "triangular shape thumb bone", "triangular shaped thumb bone", "triangular thumb phalanx", "triangular thumb phalanges" ], "HP:0009658": [ "obsolete thumb hypo / aplastic", "obsolete thumbs hypo / aplastic", "aplasia / hypoplasia of the phalanx of the thumb", "aplasia / hypoplasia of the phalanges of the thumb", "absent / small thumb bone", "absent / small thumb bones", "absent / underdevelop thumb bone", "absent / underdeveloped thumb bones" ], "HP:0009659": [ "partial absence of thumb", "aplasia of the phalanx of the thumb", "aplasia of the phalanges of the thumb" ], "HP:0004065": [ "partial absence of thumb", "aplasia of the phalanx of the thumb", "aplasia of the phalanges of the thumb" ], "HP:0009660": [ "short phalanx of the thumb", "hypoplastic thumb phalanx", "hypoplastic thumb phalanges", "hypoplastic / small phalanx of the thumb", "hypoplastic / small phalanges of the thumb", "short thumb bone", "short thumb phalanx", "short thumb phalanges" ], "HP:0004069": [ "short phalanx of the thumb", "hypoplastic thumb phalanx", "hypoplastic thumb phalanges", "hypoplastic / small phalanx of the thumb", "hypoplastic / small phalanges of the thumb", "short thumb bone", "short thumb phalanx", "short thumb phalanges" ], "HP:0004071": [ "short phalanx of the thumb", "hypoplastic thumb phalanx", "hypoplastic thumb phalanges", "hypoplastic / small phalanx of the thumb", "hypoplastic / small phalanges of the thumb", "short thumb bone", "short thumb phalanx", "short thumb phalanges" ], "HP:0009662": [ "abnormality of the epiphysis of the distal phalanx of the thumb", "abnormality of terminal thumb epiphysis", "abnormality of the end part of the outermost bone of the thumb" ], "HP:0004089": [ "abnormality of the epiphysis of the distal phalanx of the thumb", "abnormality of terminal thumb epiphysis", "abnormality of the end part of the outermost bone of the thumb" ], "HP:0009663": [ "abnormality of the epiphysis of the proximal phalanx of the thumb", "abnormality of end part of thumb innermost long bone" ], "HP:0009664": [ "absent epiphysis of the proximal phalanx of the thumb", "absent end part of thumb innermost long bone" ], "HP:0009665": [ "bracket epiphysis of the proximal phalanx of the thumb", "bracket shape end part of thumb innermost long bone", "bracket shaped end part of thumb innermost long bone" ], "HP:0009666": [ "cone - shaped epiphysis of the proximal phalanx of the thumb", "cone - shaped end part of thumb innermost long bone" ], "HP:0009667": [ "enlarged epiphysis of the proximal phalanx of the thumb", "enlarged end part of thumb innermost long bone" ], "HP:0009668": [ "fragmentation of the epiphysis of the proximal phalanx of the thumb", "fragmentation of end part of thumb innermost long bone" ], "HP:0009669": [ "irregular epiphysis of the proximal phalanx of the thumb", "irregular end part of thumb innermost long bone" ], "HP:0009670": [ "ivory epiphysis of the proximal phalanx of the thumb", "increase bone density of end part of the innermost bone of the thumb", "increased bone density of end part of the innermost bone of the thumb" ], "HP:0009671": [ "pseudoepiphysis of the proximal phalanx of the thumb" ], "HP:0009672": [ "small epiphysis of the proximal phalanx of the thumb", "small end part of thumb innermost long bone" ], "HP:0009673": [ "stippling of the epiphysis of the proximal phalanx of the thumb", "speckled calcification in end part of thumb innermost long bone", "speckled calcifications in end part of thumb innermost long bone" ], "HP:0009674": [ "triangular epiphysis of the proximal phalanx of the thumb", "triangular end part of thumb innermost long bone" ], "HP:0009675": [ "absent epiphysis of the distal phalanx of the thumb", "absent end part of thumb outermost long bone" ], "HP:0009676": [ "bracket epiphysis of the distal phalanx of the thumb", "bracket shape end part of thumb outermost long bone", "bracket shaped end part of thumb outermost long bone" ], "HP:0009677": [ "cone - shaped epiphysis of the distal phalanx of the thumb", "cone - shaped end part of thumb outermost long bone", "cone - shape terminal thumb phalanx epiphysis", "cone - shaped terminal thumb phalanx epiphysis" ], "HP:0004091": [ "cone - shaped epiphysis of the distal phalanx of the thumb", "cone - shaped end part of thumb outermost long bone", "cone - shape terminal thumb phalanx epiphysis", "cone - shaped terminal thumb phalanx epiphysis" ], "HP:0009678": [ "enlarged epiphysis of the distal phalanx of the thumb", "enlarged end part of thumb outermost long bone", "large terminal thumb phalanx epiphysis" ], "HP:0004092": [ "enlarged epiphysis of the distal phalanx of the thumb", "enlarged end part of thumb outermost long bone", "large terminal thumb phalanx epiphysis" ], "HP:0009679": [ "fragmentation of the epiphysis of the distal phalanx of the thumb", "fragmentation of end part thumb outermost long bone" ], "HP:0009680": [ "irregular epiphysis of the distal phalanx of the thumb", "irregular end part of thumb outermost bone" ], "HP:0009681": [ "ivory epiphysis of the distal phalanx of the thumb", "increase bone density of end part of the outermost bone of the thumb", "increased bone density of end part of the outermost bone of the thumb" ], "HP:0009682": [ "pseudoepiphysis of the distal phalanx of the thumb", "pseudoepiphysis of the outermost bone of the thumb" ], "HP:0009683": [ "small epiphysis of the distal phalanx of the thumb", "small end part of thumb outermost bone" ], "HP:0009684": [ "stippling of the epiphysis of the distal phalanx of the thumb", "speckled calcification in the end part of the outermost thumb bone", "speckled calcifications in the end part of the outermost thumb bone" ], "HP:0009685": [ "triangular epiphysis of the distal phalanx of the thumb", "triangular end part of thumb outermost bone", "triangular epiphysis of the outermost bone of the thumb" ], "HP:0009686": [ "absent epiphysis of the thumb", "absent epiphyses of the thumb" ], "HP:0009687": [ "bracket epiphysis of the thumb", "bracket epiphyses of the thumb", "bracket shape end part of the thumb bone", "bracket shaped end part of the thumb bone" ], "HP:0009688": [ "cone - shaped epiphysis of the thumb", "cone - shaped end part of thumb long bone", "cone - shaped epiphyses of the thumb", "cone - shaped thumb epiphysis", "cone - shaped thumb epiphyses" ], "HP:0004075": [ "cone - shaped epiphysis of the thumb", "cone - shaped end part of thumb long bone", "cone - shaped epiphyses of the thumb", "cone - shaped thumb epiphysis", "cone - shaped thumb epiphyses" ], "HP:0009689": [ "enlarge thumb epiphysis", "enlarged thumb epiphysis", "enlarged end part of thumb long bone", "enlarged epiphysis of the thumb", "enlarged epiphyses of the thumb" ], "HP:0009690": [ "fragmentation of thumb epiphysis", "fragmentation of end part of long bone of thumb", "fragmentation of the epiphysis of the thumb", "fragmentation of the epiphyses of the thumb" ], "HP:0009691": [ "irregular thumb epiphysis", "irregular end part of thumb long bone", "irregular epiphysis of the thumb", "irregular epiphyses of the thumb" ], "HP:0009692": [ "ivory epiphysis of the thumb", "increase bone density of end part of the thumb", "increased bone density of end part of the thumb", "ivory epiphyses of the thumb" ], "HP:0009693": [ "pseudoepiphysis of the thumb", "pseudoepiphyses of the thumb" ], "HP:0009694": [ "small thumb epiphysis", "small end part of thumb long bone", "small epiphysis of the thumb", "small epiphyses of the thumb" ], "HP:0009695": [ "stippling of thumb epiphysis", "speckled calcification in end part of thumb bone", "speckled calcifications in end part of thumb bone", "stippling of the epiphysis of the thumb", "stippling of the epiphyses of the thumb" ], "HP:0009696": [ "triangular epiphysis of the thumb", "triangular epiphyses of the thumb", "triangular end part of the thumb bone" ], "HP:0009697": [ "contracture of the distal interphalangeal joint of the finger", "contracture of the distal interphalangeal joint of the fingers" ], "HP:0009699": [ "osteolytic defect of the hand bone", "osteolytic defects of the hand bones", "lytic defect of hand bone", "lytic defects of hand bones" ], "HP:0004282": [ "osteolytic defect of the hand bone", "osteolytic defects of the hand bones", "lytic defect of hand bone", "lytic defects of hand bones" ], "HP:0006082": [ "osteolytic defect of the hand bone", "osteolytic defects of the hand bones", "lytic defect of hand bone", "lytic defects of hand bones" ], "HP:0009700": [ "finger symphalangism", "fuse finger bone", "fused finger bones", "symphalangism of the hand", "synostosis involve bone of the finger", "synostosis involving bones of the fingers" ], "HP:0009701": [ "metacarpal synostosis", "fuse long bone of hand", "fused long bones of hand", "synostosis involve metacarpal bone", "synostosis involving metacarpal bones", "synostosis involve the metacarpal bone", "synostosis involving the metacarpal bones" ], "HP:0005915": [ "metacarpal synostosis", "fuse long bone of hand", "fused long bones of hand", "synostosis involve metacarpal bone", "synostosis involving metacarpal bones", "synostosis involve the metacarpal bone", "synostosis involving the metacarpal bones" ], "HP:0006041": [ "metacarpal synostosis", "fuse long bone of hand", "fused long bones of hand", "synostosis involve metacarpal bone", "synostosis involving metacarpal bones", "synostosis involve the metacarpal bone", "synostosis involving the metacarpal bones" ], "HP:0009702": [ "carpal synostosis", "carpal bone fusion", "carpal fusion", "fuse carpal bone", "fused carpal bones", "fuse wrist bone", "fused wrist bones", "fusion of carpal bone", "fusion of carpal bones", "synostosis involve the carpal bone", "synostosis involving the carpal bones" ], "HP:0001192": [ "carpal synostosis", "carpal bone fusion", "carpal fusion", "fuse carpal bone", "fused carpal bones", "fuse wrist bone", "fused wrist bones", "fusion of carpal bone", "fusion of carpal bones", "synostosis involve the carpal bone", "synostosis involving the carpal bones" ], "HP:0005799": [ "carpal synostosis", "carpal bone fusion", "carpal fusion", "fuse carpal bone", "fused carpal bones", "fuse wrist bone", "fused wrist bones", "fusion of carpal bone", "fusion of carpal bones", "synostosis involve the carpal bone", "synostosis involving the carpal bones" ], "HP:0009703": [ "synostosis involve the 1st metacarpal", "synostosis involving the 1st metacarpal", "first metacarpophalangeal joint synostosis", "fusion involve 1st long bone of hand", "fusion involving 1st long bone of hand", "symphalangism affect the 1st metacarpal", "symphalangism affecting the 1st metacarpal" ], "HP:0005614": [ "synostosis involve the 1st metacarpal", "synostosis involving the 1st metacarpal", "first metacarpophalangeal joint synostosis", "fusion involve 1st long bone of hand", "fusion involving 1st long bone of hand", "symphalangism affect the 1st metacarpal", "symphalangism affecting the 1st metacarpal" ], "HP:0010032": [ "synostosis involve the 1st metacarpal", "synostosis involving the 1st metacarpal", "first metacarpophalangeal joint synostosis", "fusion involve 1st long bone of hand", "fusion involving 1st long bone of hand", "symphalangism affect the 1st metacarpal", "symphalangism affecting the 1st metacarpal" ], "HP:0009704": [ "chronic csf lymphocytosis", "chronic cerebrospinal fluid lymphocytosis" ], "HP:0009705": [ "synostosis involve the 2nd metacarpal", "synostosis involving the 2nd metacarpal", "fusion involve the 2nd long bone of hand", "fusion involving the 2nd long bone of hand" ], "HP:0009706": [ "synostosis involve the 3rd metacarpal", "synostosis involving the 3rd metacarpal", "fusion involve the 3rd long bone of hand", "fusion involving the 3rd long bone of hand" ], "HP:0009707": [ "synostosis involve the 4th metacarpal", "synostosis involving the 4th metacarpal", "fusion involve the 4th long bone of hand", "fusion involving the 4th long bone of hand" ], "HP:0009708": [ "synostosis involve the 5th metacarpal", "synostosis involving the 5th metacarpal", "fusion involve the 5th long bone of hand", "fusion involving the 5th long bone of hand" ], "HP:0009709": [ "increase csf interferon alpha", "increased csf interferon alpha" ], "HP:0009710": [ "chilblain", "chilblains", "chilblain lesion", "chilblain lesions" ], "HP:0009711": [ "retinal capillary hemangioma", "retinal hemangioblastoma" ], "HP:0009713": [ "spinal hemangioblastoma" ], "HP:0009714": [ "abnormality of the epididymis" ], "HP:0009715": [ "papillary cystadenoma of the epididymis", "obsolete papillary cystadenoma of the epididymis" ], "HP:0030422": [ "papillary cystadenoma of the epididymis", "obsolete papillary cystadenoma of the epididymis" ], "HP:0009716": [ "subependymal nodule", "subependymal nodules" ], "HP:0009717": [ "cortical tuber", "cortical tubers" ], "HP:0009718": [ "subependymal giant - cell astrocytoma" ], "HP:0009719": [ "hypomelanotic macule", "hypomelanotic macules" ], "HP:0009720": [ "adenoma sebaceum", "facial angiofibromas", "sebaceous adenoma", "sebaceous adenomas" ], "HP:0009721": [ "shagreen patch" ], "HP:0009722": [ "dental enamel pit", "dental enamel pits", "dental enamel pitting", "pitting of tooth enamel", "tooth enamel pit", "tooth enamel pits" ], "HP:0009723": [ "abnormality of the subungual region" ], "HP:0009724": [ "subungual fibroma", "subungual fibromas" ], "HP:0009725": [ "bladder neoplasm", "bladder cancer", "bladder tumor", "bladder tumour" ], "HP:0009726": [ "renal neoplasm", "kidney cancer", "neoplasia of the kidney", "neoplasia of the kidneys", "renal neoplasia", "renal tumor", "renal tumors", "renal tumour", "renal tumours" ], "HP:0005933": [ "renal neoplasm", "kidney cancer", "neoplasia of the kidney", "neoplasia of the kidneys", "renal neoplasia", "renal tumor", "renal tumors", "renal tumour", "renal tumours" ], "HP:0009727": [ "achromatic retinal patch", "achromatic retinal patches", "punch out area of chorioretinal hypopigmentation", "punched out areas of chorioretinal hypopigmentation" ], "HP:0009728": [ "neoplasm of striated muscle", "tumor of striated muscle", "tumors of striated muscle", "tumour of striated muscle", "tumours of striated muscle" ], "HP:0009729": [ "cardiac rhabdomyoma" ], "HP:0009730": [ "rhabdomyoma" ], "HP:0009731": [ "cerebral hamartoma", "cerebral hamartomata" ], "HP:0009732": [ "plexiform neurofibroma" ], "HP:0009733": [ "glioma" ], "HP:0009734": [ "optic nerve glioma", "optic glioma" ], "HP:0009735": [ "spinal neurofibroma", "spinal neurofibromas" ], "HP:0007077": [ "spinal neurofibroma", "spinal neurofibromas" ], "HP:0009736": [ "tibial pseudarthrosis", "tibial pseudoarthrosis" ], "HP:0009737": [ "lisch nodule", "lisch nodules", "iris hamartoma", "iris hamartomas" ], "HP:0009738": [ "abnormality of the antihelix", "abnormal antehelix", "abnormal anthelix", "abnormal antihelix" ], "HP:0009739": [ "hypoplasia of the antihelix", "hypoplastic antihelix" ], "HP:0009740": [ "aplasia of the parotid gland", "abnormally small parotid gland", "absence of the parotid gland", "hypoplasia of parotid gland", "underdevelopment of parotid gland" ], "HP:0009741": [ "nephrosclerosis", "scarring of kidney artery", "scarring of kidney arteries", "thickening of kidney artiries" ], "HP:0009742": [ "stiff shoulder", "stiff shoulders" ], "HP:0009743": [ "distichiasis", "distichiasis of eyelid eyelash", "distichiasis of eyelid eyelashes" ], "HP:0009744": [ "abnormal spinal dura mater morphology", "abnormality of the spinal dura mater" ], "HP:0009745": [ "spinal arachnoid cyst", "epidural arachnoid cyst of the spinal canal", "epidural arachnoid cysts of the spinal canal" ], "HP:0009746": [ "thick nasal septum", "broad nasal septum", "broad septum of nose", "thick septum of nose", "wide nasal septum", "wide septum of nose" ], "HP:0009747": [ "lumbosacral hirsutism" ], "HP:0009748": [ "large earlobe", "fleshy earlobe", "fleshy earlobes", "prominent ear lobe", "prominent ear lobes", "prominent ear lobule", "prominent ear lobules" ], "HP:0004449": [ "large earlobe", "fleshy earlobe", "fleshy earlobes", "prominent ear lobe", "prominent ear lobes", "prominent ear lobule", "prominent ear lobules" ], "HP:0004456": [ "large earlobe", "fleshy earlobe", "fleshy earlobes", "prominent ear lobe", "prominent ear lobes", "prominent ear lobule", "prominent ear lobules" ], "HP:0009751": [ "aplasia of the pectoralis major muscle", "absent pectoralis major muscle" ], "HP:0009752": [ "cleft in skull base", "cleft in cranial base" ], "HP:0009754": [ "fibrous syngnathia", "alveolar synechiae", "fusion of the alveolar ridge", "fusion of the alveolar ridges" ], "HP:0009755": [ "ankyloblepharon", "adhesion of eyelid", "adhesion of eyelids", "ankyloblepharon filiforme adnatum", "eyelid synechiae", "eyelid stick together", "eyelids stuck together" ], "HP:0009756": [ "popliteal pterygium" ], "HP:0009757": [ "intercrural pterygium" ], "HP:0009758": [ "pyramidal skinfold extend from the base to the top of the nail", "pyramidal skinfold extending from the base to the top of the nails" ], "HP:0009759": [ "neck pterygium", "neck pterygia" ], "HP:0009760": [ "antecubital pterygium", "pterygium cubitale", "web elbow", "webbed elbow" ], "HP:0009761": [ "anterior clefting of vertebral body", "anterior clefting of vertebral bodies" ], "HP:0009762": [ "facial wrinkling" ], "HP:0009763": [ "limb pain", "pain in extremity", "pain in extremities" ], "HP:0009765": [ "low hang columella", "low hanging columella", "columella extend below the ala nasi", "columella extends below the ala nasi", "columella , low", "columella , low hanging", "extension of the columella below the ala nasi", "low - hanging columella", "prominent columella", "round columella", "rounded columella" ], "HP:0009766": [ "low hang columella", "low hanging columella", "columella extend below the ala nasi", "columella extends below the ala nasi", "columella , low", "columella , low hanging", "extension of the columella below the ala nasi", "low - hanging columella", "prominent columella", "round columella", "rounded columella" ], "HP:0009767": [ "aplasia / hypoplasia of the phalanx of the hand", "aplasia / hypoplasia of the phalanges of the hand", "aplastic / hypoplastic phalanx", "aplastic / hypoplastic phalanges", "aplastic / hypoplastic phalanx of the hand", "aplastic / hypoplastic phalanges of the hand", "hypoplastic / absent phalanx", "hypoplastic / absent phalanges" ], "HP:0006056": [ "aplasia / hypoplasia of the phalanx of the hand", "aplasia / hypoplasia of the phalanges of the hand", "aplastic / hypoplastic phalanx", "aplastic / hypoplastic phalanges", "aplastic / hypoplastic phalanx of the hand", "aplastic / hypoplastic phalanges of the hand", "hypoplastic / absent phalanx", "hypoplastic / absent phalanges" ], "HP:0006100": [ "aplasia / hypoplasia of the phalanx of the hand", "aplasia / hypoplasia of the phalanges of the hand", "aplastic / hypoplastic phalanx", "aplastic / hypoplastic phalanges", "aplastic / hypoplastic phalanx of the hand", "aplastic / hypoplastic phalanges of the hand", "hypoplastic / absent phalanx", "hypoplastic / absent phalanges" ], "HP:0009801": [ "aplasia / hypoplasia of the phalanx of the hand", "aplasia / hypoplasia of the phalanges of the hand", "aplastic / hypoplastic phalanx", "aplastic / hypoplastic phalanges", "aplastic / hypoplastic phalanx of the hand", "aplastic / hypoplastic phalanges of the hand", "hypoplastic / absent phalanx", "hypoplastic / absent phalanges" ], "HP:0009768": [ "broad phalanx of the hand", "broad phalanges of the hand", "wide hand bone", "wide hand bones", "widening of phalanx of the hand", "widening of phalanges of the hand" ], "HP:0001246": [ "broad phalanx of the hand", "broad phalanges of the hand", "wide hand bone", "wide hand bones", "widening of phalanx of the hand", "widening of phalanges of the hand" ], "HP:0006260": [ "broad phalanx of the hand", "broad phalanges of the hand", "wide hand bone", "wide hand bones", "widening of phalanx of the hand", "widening of phalanges of the hand" ], "HP:0009769": [ "bullet - shaped phalanx of the hand", "bullet - shaped phalanges of the hand", "bullet - shaped hand bone", "bullet - shaped hand bones", "bullet - shaped phalanges of the hands", "conical bullet - shaped distal end of phalanx", "conical bullet - shaped distal ends of phalanges" ], "HP:0004270": [ "bullet - shaped phalanx of the hand", "bullet - shaped phalanges of the hand", "bullet - shaped hand bone", "bullet - shaped hand bones", "bullet - shaped phalanges of the hands", "conical bullet - shaped distal end of phalanx", "conical bullet - shaped distal ends of phalanges" ], "HP:0006139": [ "bullet - shaped phalanx of the hand", "bullet - shaped phalanges of the hand", "bullet - shaped hand bone", "bullet - shaped hand bones", "bullet - shaped phalanges of the hands", "conical bullet - shaped distal end of phalanx", "conical bullet - shaped distal ends of phalanges" ], "HP:0009770": [ "curve phalanx of the hand", "curved phalanges of the hand", "curve hand bone", "curved hand bones" ], "HP:0009771": [ "osteolytic defect of the phalanx of the hand", "osteolytic defects of the phalanges of the hand", "acro - osteolysis", "acroosteolysis", "breakdown of small bone of finger", "breakdown of small bones of fingers" ], "HP:0001179": [ "osteolytic defect of the phalanx of the hand", "osteolytic defects of the phalanges of the hand", "acro - osteolysis", "acroosteolysis", "breakdown of small bone of finger", "breakdown of small bones of fingers" ], "HP:0009772": [ "patchy sclerosis of finger phalanx", "patchy sclerosis of the phalanx of the hand", "patchy sclerosis of the phalanges of the hand", "phalangeal sclerosis", "uneven increase in bone density in finger bone" ], "HP:0006071": [ "patchy sclerosis of finger phalanx", "patchy sclerosis of the phalanx of the hand", "patchy sclerosis of the phalanges of the hand", "phalangeal sclerosis", "uneven increase in bone density in finger bone" ], "HP:0009773": [ "symphalangism affect the phalanx of the hand", "symphalangism affecting the phalanges of the hand", "fuse finger bone of the hand", "fused finger bones of the hand", "synostosis involve phalanx of the hand", "synostosis involving phalanges of the hand" ], "HP:0006258": [ "symphalangism affect the phalanx of the hand", "symphalangism affecting the phalanges of the hand", "fuse finger bone of the hand", "fused finger bones of the hand", "synostosis involve phalanx of the hand", "synostosis involving phalanges of the hand" ], "HP:0009774": [ "triangular shape phalanx of the hand", "triangular shaped phalanges of the hand", "delta phalanx / delta - like phalanx", "triangular shape hand bone", "triangular shaped hand bones" ], "HP:0006085": [ "triangular shape phalanx of the hand", "triangular shaped phalanges of the hand", "delta phalanx / delta - like phalanx", "triangular shape hand bone", "triangular shaped hand bones" ], "HP:0009874": [ "triangular shape phalanx of the hand", "triangular shaped phalanges of the hand", "delta phalanx / delta - like phalanx", "triangular shape hand bone", "triangular shaped hand bones" ], "HP:0009775": [ "amniotic constriction ring", "amniotic band", "amniotic bands", "amniotic constriction band", "pseudoainhum" ], "HP:0001078": [ "amniotic constriction ring", "amniotic band", "amniotic bands", "amniotic constriction band", "pseudoainhum" ], "HP:0009776": [ "adactyly", "absent finger or toe", "absent fingers or toes", "aphalangy" ], "HP:0009777": [ "absent thumb", "absent thumbs", "aplasia of the thumb", "thumb aplasia" ], "HP:0001185": [ "absent thumb", "absent thumbs", "aplasia of the thumb", "thumb aplasia" ], "HP:0002802": [ "absent thumb", "absent thumbs", "aplasia of the thumb", "thumb aplasia" ], "HP:0009627": [ "absent thumb", "absent thumbs", "aplasia of the thumb", "thumb aplasia" ], "HP:0009778": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0001183": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0001186": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0001589": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0005699": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0006151": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0009628": [ "short thumb", "hypoplastic thumb", "hypoplastic thumbs", "hypoplastic / small thumb", "short thumbs", "small thumb", "small thumbs", "thumb brachydactyly", "thumb hypoplasia" ], "HP:0009779": [ "3 - 4 toe syndactyly", "syndactyly of 3rd - 4th toe", "syndactyly of 3rd - 4th toes", "web 3rd - 4th toe", "webbed 3rd - 4th toes" ], "HP:0004708": [ "3 - 4 toe syndactyly", "syndactyly of 3rd - 4th toe", "syndactyly of 3rd - 4th toes", "web 3rd - 4th toe", "webbed 3rd - 4th toes" ], "HP:0009780": [ "iliac horn", "iliac horns" ], "HP:0009781": [ "lester 's sign" ], "HP:0009782": [ "aplasia / hypoplasia of the biceps", "absent / small biceps", "absent / underdevelop biceps", "absent / underdeveloped biceps" ], "HP:0009783": [ "biceps aplasia", "absent biceps" ], "HP:0009784": [ "aplasia / hypoplasia of the triceps", "absent / small triceps", "absent / underdevelop triceps", "absent / underdeveloped triceps" ], "HP:0009785": [ "triceps aplasia", "absent triceps" ], "HP:0009786": [ "aplasia / hypoplasia of the musculature of the thigh", "absent / small thigh muscle", "absent / small thigh muscles", "absent / underdevelop thigh muscle", "absent / underdeveloped thigh muscles" ], "HP:0009787": [ "aplasia / hypoplasia of the quadriceps", "absent / small quadriceps", "absent / underdevelop quadriceps", "absent / underdeveloped quadriceps" ], "HP:0009788": [ "quadriceps aplasia", "absent quad", "absent quads" ], "HP:0009789": [ "perianal abscess" ], "HP:0009790": [ "hemisacrum" ], "HP:0009791": [ "bifid sacrum" ], "HP:0009792": [ "teratoma" ], "HP:0009793": [ "presacral teratoma", "altman type iv sacrococcygeal teratoma", "retrorectal teratoma" ], "HP:0009794": [ "branchial anomaly", "abnormality of branchial apparatus", "abnormality of branchial arch", "branchial abnormality", "branchial anomalies" ], "HP:0009795": [ "branchial fistula", "branchial cleft fistula" ], "HP:0009796": [ "branchial cyst", "branchial cleft cyst", "branchial cysts" ], "HP:0009797": [ "cholesteatoma" ], "HP:0009798": [ "euthyroid goiter", "euthyroid goitre" ], "HP:0009799": [ "supernumerary spleen", "supernumerary spleens", "extra spleen" ], "HP:0009800": [ "maternal diabetes", "gestational diabetes", "maternal hyperglycemia" ], "HP:0009802": [ "aplasia of the phalanx of the hand", "aplasia of the phalanges of the hand", "absent finger bone of the hand" ], "HP:0009803": [ "short phalanx of finger", "hypoplastic phalanx", "hypoplastic phalanges", "hypoplastic phalanx of hand", "hypoplastic phalanges of hands", "hypoplastic / small phalanx of the hand", "hypoplastic / small phalanges of the hand", "phalangeal hypoplasia", "rudimentary phalanx", "rudimentary phalanges", "short finger bone", "short finger bones", "short phalanx", "short phalanges", "shorten phalanx", "shortened phalanges" ], "HP:0001168": [ "short phalanx of finger", "hypoplastic phalanx", "hypoplastic phalanges", "hypoplastic phalanx of hand", "hypoplastic phalanges of hands", "hypoplastic / small phalanx of the hand", "hypoplastic / small phalanges of the hand", "phalangeal hypoplasia", "rudimentary phalanx", "rudimentary phalanges", "short finger bone", "short finger bones", "short phalanx", "short phalanges", "shorten phalanx", "shortened phalanges" ], "HP:0005771": [ "short phalanx of finger", "hypoplastic phalanx", "hypoplastic phalanges", "hypoplastic phalanx of hand", "hypoplastic phalanges of hands", "hypoplastic / small phalanx of the hand", "hypoplastic / small phalanges of the hand", "phalangeal hypoplasia", "rudimentary phalanx", "rudimentary phalanges", "short finger bone", "short finger bones", "short phalanx", "short phalanges", "shorten phalanx", "shortened phalanges" ], "HP:0006087": [ "short phalanx of finger", "hypoplastic phalanx", "hypoplastic phalanges", "hypoplastic phalanx of hand", "hypoplastic phalanges of hands", "hypoplastic / small phalanx of the hand", "hypoplastic / small phalanges of the hand", "phalangeal hypoplasia", "rudimentary phalanx", "rudimentary phalanges", "short finger bone", "short finger bones", "short phalanx", "short phalanges", "shorten phalanx", "shortened phalanges" ], "HP:0006126": [ "short phalanx of finger", "hypoplastic phalanx", "hypoplastic phalanges", "hypoplastic phalanx of hand", "hypoplastic phalanges of hands", "hypoplastic / small phalanx of the hand", "hypoplastic / small phalanges of the hand", "phalangeal hypoplasia", "rudimentary phalanx", "rudimentary phalanges", "short finger bone", "short finger bones", "short phalanx", "short phalanges", "shorten phalanx", "shortened phalanges" ], "HP:0009804": [ "tooth agenesis", "decreased number of teeth", "decrease tooth count", "decreased tooth count", "dental agenesis", "failure of development of some teeth", "few teeth than normal", "fewer teeth than normal", "miss some teeth", "missing some teeth", "reduced number of teeth", "teeth , agenesis" ], "HP:0009805": [ "low - output congestive heart failure" ], "HP:0009806": [ "nephrogenic diabetes insipidus" ], "HP:0009808": [ "anomaly of the upper limb diaphysis", "anomaly of the upper limb diaphyses", "abnormality involve the diaphysis of the upper limb", "abnormality involving the diaphyses of the upper limbs", "abnormality of shaft of long bone of the upper limb", "abnormality of shaft of long bone of the upper limbs", "diaphyseal abnormality of the upper limb", "diaphyseal abnormality of the upper limbs" ], "HP:0003857": [ "anomaly of the upper limb diaphysis", "anomaly of the upper limb diaphyses", "abnormality involve the diaphysis of the upper limb", "abnormality involving the diaphyses of the upper limbs", "abnormality of shaft of long bone of the upper limb", "abnormality of shaft of long bone of the upper limbs", "diaphyseal abnormality of the upper limb", "diaphyseal abnormality of the upper limbs" ], "HP:0009809": [ "abnormality of upper limb metaphysis", "abnormality of the wide portion of upper limb bone", "metaphyseal abnormality of the upper limb", "metaphyseal abnormality of the upper limbs" ], "HP:0003847": [ "abnormality of upper limb metaphysis", "abnormality of the wide portion of upper limb bone", "metaphyseal abnormality of the upper limb", "metaphyseal abnormality of the upper limbs" ], "HP:0009810": [ "abnormality of upper limb joint", "abnormality of the joint of the upper limb", "abnormality of the joints of the upper limbs" ], "HP:0009811": [ "abnormality of the elbow", "abnormality of the elbows" ], "HP:0002966": [ "abnormality of the elbow", "abnormality of the elbows" ], "HP:0009812": [ "amelia involve the upper limb", "amelia involving the upper limbs" ], "HP:0009813": [ "upper limb phocomelia" ], "HP:0009814": [ "upper limb peromelia" ], "HP:0009815": [ "aplasia / hypoplasia of the extremity", "aplasia / hypoplasia of the extremities", "absent / small extremity", "absent / small extremities", "absent / underdevelop extremity", "absent / underdeveloped extremities", "short or absent limb", "short or absent limbs", "shorten limb", "shortened limbs" ], "HP:0002969": [ "aplasia / hypoplasia of the extremity", "aplasia / hypoplasia of the extremities", "absent / small extremity", "absent / small extremities", "absent / underdevelop extremity", "absent / underdeveloped extremities", "short or absent limb", "short or absent limbs", "shorten limb", "shortened limbs" ], "HP:0006497": [ "aplasia / hypoplasia of the extremity", "aplasia / hypoplasia of the extremities", "absent / small extremity", "absent / small extremities", "absent / underdevelop extremity", "absent / underdeveloped extremities", "short or absent limb", "short or absent limbs", "shorten limb", "shortened limbs" ], "HP:0009816": [ "low limb undergrowth", "lower limb undergrowth", "hypoplasia involve bone of the low limb", "hypoplasia involving bones of the lower limbs", "hypoplasia of the low limb", "hypoplasia of the lower limbs", "underdeveloped low limb bone", "underdeveloped lower limb bones" ], "HP:0003087": [ "low limb undergrowth", "lower limb undergrowth", "hypoplasia involve bone of the low limb", "hypoplasia involving bones of the lower limbs", "hypoplasia of the low limb", "hypoplasia of the lower limbs", "underdeveloped low limb bone", "underdeveloped lower limb bones" ], "HP:0005884": [ "low limb undergrowth", "lower limb undergrowth", "hypoplasia involve bone of the low limb", "hypoplasia involving bones of the lower limbs", "hypoplasia of the low limb", "hypoplasia of the lower limbs", "underdeveloped low limb bone", "underdeveloped lower limb bones" ], "HP:0006399": [ "low limb undergrowth", "lower limb undergrowth", "hypoplasia involve bone of the low limb", "hypoplasia involving bones of the lower limbs", "hypoplasia of the low limb", "hypoplasia of the lower limbs", "underdeveloped low limb bone", "underdeveloped lower limb bones" ], "HP:0009817": [ "aplasia involve bone of the low limb", "aplasia involving bones of the lower limbs", "absent bone of the low limb", "absent bones of the lower limbs" ], "HP:0009818": [ "amelia involve the low limb", "amelia involving the lower limbs" ], "HP:0009819": [ "low limb phocomelia", "lower limb phocomelia" ], "HP:0009820": [ "low limb peromelia", "lower limb peromelia" ], "HP:0009821": [ "forearm undergrowth", "hypoplasia involve forearm bone", "hypoplasia involving forearm bones", "short forearm bone", "short forearm bones", "short forearm", "short forearms", "shorten forearm", "shortened forearm" ], "HP:0003024": [ "forearm undergrowth", "hypoplasia involve forearm bone", "hypoplasia involving forearm bones", "short forearm bone", "short forearm bones", "short forearm", "short forearms", "shorten forearm", "shortened forearm" ], "HP:0003968": [ "forearm undergrowth", "hypoplasia involve forearm bone", "hypoplasia involving forearm bones", "short forearm bone", "short forearm bones", "short forearm", "short forearms", "shorten forearm", "shortened forearm" ], "HP:0006405": [ "forearm undergrowth", "hypoplasia involve forearm bone", "hypoplasia involving forearm bones", "short forearm bone", "short forearm bones", "short forearm", "short forearms", "shorten forearm", "shortened forearm" ], "HP:0009822": [ "aplasia involve forearm bone", "aplasia involving forearm bones", "absent forearm bone", "absent forearm bones" ], "HP:0009823": [ "aplasia involve bone of the upper limb", "aplasia involving bones of the upper limbs", "absent bone of the upper limb", "absent bones of the upper limbs" ], "HP:0009824": [ "upper limb undergrowth", "hypoplasia involve bone of the upper limb", "hypoplasia involving bones of the upper limbs", "short arm", "short arms", "shortening of the arm", "shortening of the arms" ], "HP:0003056": [ "upper limb undergrowth", "hypoplasia involve bone of the upper limb", "hypoplasia involving bones of the upper limbs", "short arm", "short arms", "shortening of the arm", "shortening of the arms" ], "HP:0006364": [ "upper limb undergrowth", "hypoplasia involve bone of the upper limb", "hypoplasia involving bones of the upper limbs", "short arm", "short arms", "shortening of the arm", "shortening of the arms" ], "HP:0009825": [ "aplasia involve bone of the extremity", "aplasia involving bones of the extremities", "absent bone of the extremity", "absent bones of the extremities" ], "HP:0009826": [ "limb undergrowth", "hypoplasia involve bone of the extremity", "hypoplasia involving bones of the extremities", "limb shorten", "limb shortening", "short limb", "short limbs" ], "HP:0003058": [ "limb undergrowth", "hypoplasia involve bone of the extremity", "hypoplasia involving bones of the extremities", "limb shorten", "limb shortening", "short limb", "short limbs" ], "HP:0005049": [ "limb undergrowth", "hypoplasia involve bone of the extremity", "hypoplasia involving bones of the extremities", "limb shorten", "limb shortening", "short limb", "short limbs" ], "HP:0005057": [ "limb undergrowth", "hypoplasia involve bone of the extremity", "hypoplasia involving bones of the extremities", "limb shorten", "limb shortening", "short limb", "short limbs" ], "HP:0009827": [ "amelia" ], "HP:0009828": [ "peromelia" ], "HP:0009829": [ "phocomelia" ], "HP:0002994": [ "phocomelia" ], "HP:0009830": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0003157": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0003407": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0007088": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0007235": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0007355": [ "peripheral neuropathy", "neuropathy", "peripheral nerve damage", "peripheral neuritis" ], "HP:0009831": [ "mononeuropathy", "single damage nerve", "single damaged nerve" ], "HP:0009832": [ "abnormal distal phalanx morphology of finger", "abnormal terminal phalanx of the hand", "abnormal terminal phalanges of the hand", "abnormality of the distal phalanx of the hand", "abnormality of the distal phalanges of the hand", "abnormality of the distal phalanx of finger", "abnormality of the outermost finger bone" ], "HP:0005919": [ "abnormal distal phalanx morphology of finger", "abnormal terminal phalanx of the hand", "abnormal terminal phalanges of the hand", "abnormality of the distal phalanx of the hand", "abnormality of the distal phalanges of the hand", "abnormality of the distal phalanx of finger", "abnormality of the outermost finger bone" ], "HP:0009833": [ "abnormal middle phalanx morphology of the hand", "abnormality of the middle finger bone of the hand", "abnormality of the middle finger bones of the hand", "abnormality of the middle phalanx of the hand", "abnormality of the middle phalanges of the hand" ], "HP:0009834": [ "abnormal proximal phalanx morphology of the hand", "abnormality of the innermost finger bone of the hand", "abnormality of the innermost finger bones of the hand", "abnormality of the proximal phalanx of the hand", "abnormality of the proximal phalanges of the hand" ], "HP:0009835": [ "aplasia / hypoplasia of the distal phalanx of the hand", "aplasia / hypoplasia of the distal phalanges of the hand", "absent / hypoplastic distal phalanx", "absent / hypoplastic distal phalanges", "absent / small outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand", "absent / underdeveloped outermost finger bone of the hand", "aplasia / hypoplasia of the distal phalanx", "aplasia / hypoplasia of the distal phalanges", "aplastic / hypoplastic distal phalanx", "aplastic / hypoplastic distal phalanges", "hypoplastic to absent terminal phalanx", "hypoplastic to absent terminal phalanges", "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanges", "small or absent distal phalanx", "small or absent distal phalanges" ], "HP:0005635": [ "aplasia / hypoplasia of the distal phalanx of the hand", "aplasia / hypoplasia of the distal phalanges of the hand", "absent / hypoplastic distal phalanx", "absent / hypoplastic distal phalanges", "absent / small outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand", "absent / underdeveloped outermost finger bone of the hand", "aplasia / hypoplasia of the distal phalanx", "aplasia / hypoplasia of the distal phalanges", "aplastic / hypoplastic distal phalanx", "aplastic / hypoplastic distal phalanges", "hypoplastic to absent terminal phalanx", "hypoplastic to absent terminal phalanges", "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanges", "small or absent distal phalanx", "small or absent distal phalanges" ], "HP:0006037": [ "aplasia / hypoplasia of the distal phalanx of the hand", "aplasia / hypoplasia of the distal phalanges of the hand", "absent / hypoplastic distal phalanx", "absent / hypoplastic distal phalanges", "absent / small outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand", "absent / underdeveloped outermost finger bone of the hand", "aplasia / hypoplasia of the distal phalanx", "aplasia / hypoplasia of the distal phalanges", "aplastic / hypoplastic distal phalanx", "aplastic / hypoplastic distal phalanges", "hypoplastic to absent terminal phalanx", "hypoplastic to absent terminal phalanges", "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanges", "small or absent distal phalanx", "small or absent distal phalanges" ], "HP:0006066": [ "aplasia / hypoplasia of the distal phalanx of the hand", "aplasia / hypoplasia of the distal phalanges of the hand", "absent / hypoplastic distal phalanx", "absent / hypoplastic distal phalanges", "absent / small outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand", "absent / underdeveloped outermost finger bone of the hand", "aplasia / hypoplasia of the distal phalanx", "aplasia / hypoplasia of the distal phalanges", "aplastic / hypoplastic distal phalanx", "aplastic / hypoplastic distal phalanges", "hypoplastic to absent terminal phalanx", "hypoplastic to absent terminal phalanges", "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanges", "small or absent distal phalanx", "small or absent distal phalanges" ], "HP:0006235": [ "aplasia / hypoplasia of the distal phalanx of the hand", "aplasia / hypoplasia of the distal phalanges of the hand", "absent / hypoplastic distal phalanx", "absent / hypoplastic distal phalanges", "absent / small outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand", "absent / underdeveloped outermost finger bone of the hand", "aplasia / hypoplasia of the distal phalanx", "aplasia / hypoplasia of the distal phalanges", "aplastic / hypoplastic distal phalanx", "aplastic / hypoplastic distal phalanges", "hypoplastic to absent terminal phalanx", "hypoplastic to absent terminal phalanges", "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanges", "small or absent distal phalanx", "small or absent distal phalanges" ], "HP:0009836": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0003120": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0006113": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0006197": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0006241": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0009859": [ "broad distal phalanx of finger", "broad distal phalanx", "broad distal phalanges", "broad distal phalanx of the hand", "broad distal phalanges of the hand", "broad outermost finger bone", "broad terminal phalanx", "broad terminal phalanges", "broad , square end of distal phalanx", "broad , square ends of distal phalanges", "spatulate terminal phalanx", "spatulate terminal phalanges" ], "HP:0009837": [ "bullet - shaped distal phalanx of the hand", "bullet - shaped distal phalanges of the hand", "bullet - shape outermost finger bone of the hand", "bullet - shaped outermost finger bone of the hand" ], "HP:0009860": [ "bullet - shaped distal phalanx of the hand", "bullet - shaped distal phalanges of the hand", "bullet - shape outermost finger bone of the hand", "bullet - shaped outermost finger bone of the hand" ], "HP:0009838": [ "curve distal phalanx of the hand", "curved distal phalanges of the hand", "curve outermost finger bone of the hand", "curved outermost finger bone of the hand" ], "HP:0009862": [ "curve distal phalanx of the hand", "curved distal phalanges of the hand", "curve outermost finger bone of the hand", "curved outermost finger bone of the hand" ], "HP:0009839": [ "osteolytic defect of the distal phalanx of the hand", "osteolytic defects of the distal phalanges of the hand", "acro - osteolysis of distal phalanx", "acro - osteolysis of distal phalanges", "acroosteolysis of distal phalanx", "acroosteolysis of distal phalanges", "osteolytic defect of the outermost finger bone of the hand", "osteolytic defects of the outermost finger bone of the hand" ], "HP:0001219": [ "osteolytic defect of the distal phalanx of the hand", "osteolytic defects of the distal phalanges of the hand", "acro - osteolysis of distal phalanx", "acro - osteolysis of distal phalanges", "acroosteolysis of distal phalanx", "acroosteolysis of distal phalanges", "osteolytic defect of the outermost finger bone of the hand", "osteolytic defects of the outermost finger bone of the hand" ], "HP:0009865": [ "osteolytic defect of the distal phalanx of the hand", "osteolytic defects of the distal phalanges of the hand", "acro - osteolysis of distal phalanx", "acro - osteolysis of distal phalanges", "acroosteolysis of distal phalanx", "acroosteolysis of distal phalanges", "osteolytic defect of the outermost finger bone of the hand", "osteolytic defects of the outermost finger bone of the hand" ], "HP:0009840": [ "patchy sclerosis of distal phalanx of finger", "patchy sclerosis of the distal phalanx of the hand", "patchy sclerosis of the distal phalanges of the hand", "uneven increase in bone density in outermost finger bone" ], "HP:0009868": [ "patchy sclerosis of distal phalanx of finger", "patchy sclerosis of the distal phalanx of the hand", "patchy sclerosis of the distal phalanges of the hand", "uneven increase in bone density in outermost finger bone" ], "HP:0009843": [ "aplasia / hypoplasia of the middle phalanx of the hand", "aplasia / hypoplasia of the middle phalanges of the hand", "absent / hypoplastic middle phalanx", "absent / hypoplastic middle phalanges", "absent / small middle finger bone of the hand", "absent / underdevelop middle finger bone of the hand", "absent / underdeveloped middle finger bone of the hand", "aplasia / hypoplasia of middle phalanx", "aplasia / hypoplasia of middle phalanges", "aplastic / hypoplastic middle phalanx", "aplastic / hypoplastic middle phalanges", "hypoplastic / aplastic middle phalanx", "short to absent middle phalanx", "short to absent middle phalanges", "short / absent middle phalanx", "short / absent middle phalanges" ], "HP:0005810": [ "aplasia / hypoplasia of the middle phalanx of the hand", "aplasia / hypoplasia of the middle phalanges of the hand", "absent / hypoplastic middle phalanx", "absent / hypoplastic middle phalanges", "absent / small middle finger bone of the hand", "absent / underdevelop middle finger bone of the hand", "absent / underdeveloped middle finger bone of the hand", "aplasia / hypoplasia of middle phalanx", "aplasia / hypoplasia of middle phalanges", "aplastic / hypoplastic middle phalanx", "aplastic / hypoplastic middle phalanges", "hypoplastic / aplastic middle phalanx", "short to absent middle phalanx", "short to absent middle phalanges", "short / absent middle phalanx", "short / absent middle phalanges" ], "HP:0006063": [ "aplasia / hypoplasia of the middle phalanx of the hand", "aplasia / hypoplasia of the middle phalanges of the hand", "absent / hypoplastic middle phalanx", "absent / hypoplastic middle phalanges", "absent / small middle finger bone of the hand", "absent / underdevelop middle finger bone of the hand", "absent / underdeveloped middle finger bone of the hand", "aplasia / hypoplasia of middle phalanx", "aplasia / hypoplasia of middle phalanges", "aplastic / hypoplastic middle phalanx", "aplastic / hypoplastic middle phalanges", "hypoplastic / aplastic middle phalanx", "short to absent middle phalanx", "short to absent middle phalanges", "short / absent middle phalanx", "short / absent middle phalanges" ], "HP:0006148": [ "aplasia / hypoplasia of the middle phalanx of the hand", "aplasia / hypoplasia of the middle phalanges of the hand", "absent / hypoplastic middle phalanx", "absent / hypoplastic middle phalanges", "absent / small middle finger bone of the hand", "absent / underdevelop middle finger bone of the hand", "absent / underdeveloped middle finger bone of the hand", "aplasia / hypoplasia of middle phalanx", "aplasia / hypoplasia of middle phalanges", "aplastic / hypoplastic middle phalanx", "aplastic / hypoplastic middle phalanges", "hypoplastic / aplastic middle phalanx", "short to absent middle phalanx", "short to absent middle phalanges", "short / absent middle phalanx", "short / absent middle phalanges" ], "HP:0009844": [ "broad middle phalanx of finger", "broad middle finger bone", "broad middle finger bones", "broad middle phalanges of finger", "broad middle phalanx of the hand", "broad middle phalanges of the hand" ], "HP:0009845": [ "bullet - shape middle phalanx of the hand", "bullet - shaped middle phalanges of the hand" ], "HP:0006038": [ "bullet - shape middle phalanx of the hand", "bullet - shaped middle phalanges of the hand" ], "HP:0009846": [ "curve middle phalanx of the hand", "curved middle phalanges of the hand", "curve middle finger bond of the hand", "curved middle finger bonds of the hand" ], "HP:0009863": [ "curve middle phalanx of the hand", "curved middle phalanges of the hand", "curve middle finger bond of the hand", "curved middle finger bonds of the hand" ], "HP:0009847": [ "osteolytic defect of the middle phalanx of the hand", "osteolytic defects of the middle phalanges of the hand" ], "HP:0009866": [ "osteolytic defect of the middle phalanx of the hand", "osteolytic defects of the middle phalanges of the hand" ], "HP:0009848": [ "patchy sclerosis of middle phalanx of finger", "patchy sclerosis of the middle phalanx of the hand", "patchy sclerosis of the middle phalanges of the hand", "uneven increase in bone density in the middle finger bone of the hand", "uneven increase in bone density in the middle finger bones of the hand" ], "HP:0009870": [ "patchy sclerosis of middle phalanx of finger", "patchy sclerosis of the middle phalanx of the hand", "patchy sclerosis of the middle phalanges of the hand", "uneven increase in bone density in the middle finger bone of the hand", "uneven increase in bone density in the middle finger bones of the hand" ], "HP:0009849": [ "symphalangism of middle phalanx of finger", "fuse middle finger bone", "fused middle finger bone" ], "HP:0009872": [ "symphalangism of middle phalanx of finger", "fuse middle finger bone", "fused middle finger bone" ], "HP:0009850": [ "triangular shape middle phalanx of the hand", "triangular shaped middle phalanges of the hand", "triangular shape middle finger bone of the hand", "triangular shaped middle finger bones of the hand" ], "HP:0009876": [ "triangular shape middle phalanx of the hand", "triangular shaped middle phalanges of the hand", "triangular shape middle finger bone of the hand", "triangular shaped middle finger bones of the hand" ], "HP:0009851": [ "aplasia / hypoplasia of the proximal phalanx of the hand", "aplasia / hypoplasia of the proximal phalanges of the hand", "absent / small innermost finger bone of the hand", "absent / small innermost finger bones of the hand", "absent / underdevelop innermost finger bone of the hand", "absent / underdeveloped innermost finger bones of the hand" ], "HP:0009852": [ "broad proximal phalanx of the hand", "broad proximal phalanges of the hand", "broad innermost finger bone of the hand", "broad innermost finger bones of the hand", "wide innermost finger bone of the hand", "wide innermost finger bones of the hand" ], "HP:0006168": [ "broad proximal phalanx of the hand", "broad proximal phalanges of the hand", "broad innermost finger bone of the hand", "broad innermost finger bones of the hand", "wide innermost finger bone of the hand", "wide innermost finger bones of the hand" ], "HP:0009853": [ "bullet - shape proximal phalanx of the hand", "bullet - shaped proximal phalanges of the hand", "bullet - shape innermost finger bone of the hand", "bullet - shaped innermost finger bones of the hand" ], "HP:0009861": [ "bullet - shape proximal phalanx of the hand", "bullet - shaped proximal phalanges of the hand", "bullet - shape innermost finger bone of the hand", "bullet - shaped innermost finger bones of the hand" ], "HP:0009854": [ "curve proximal phalanx of the hand", "curved proximal phalanges of the hand", "curve innermost finger bone of the hand", "curved innermost finger bones of the hand" ], "HP:0009864": [ "curve proximal phalanx of the hand", "curved proximal phalanges of the hand", "curve innermost finger bone of the hand", "curved innermost finger bones of the hand" ], "HP:0009855": [ "osteolytic defect of the proximal phalanx of the hand", "osteolytic defects of the proximal phalanges of the hand", "proximal phalanx osteolysis", "proximal phalanges osteolysis" ], "HP:0006050": [ "osteolytic defect of the proximal phalanx of the hand", "osteolytic defects of the proximal phalanges of the hand", "proximal phalanx osteolysis", "proximal phalanges osteolysis" ], "HP:0009867": [ "osteolytic defect of the proximal phalanx of the hand", "osteolytic defects of the proximal phalanges of the hand", "proximal phalanx osteolysis", "proximal phalanges osteolysis" ], "HP:0009856": [ "patchy sclerosis of proximal phalanx of finger", "patchy sclerosis of the proximal phalanx of the hand", "patchy sclerosis of the proximal phalanges of the hand", "uneven increase in bone density in innermost finger bone" ], "HP:0009869": [ "patchy sclerosis of proximal phalanx of finger", "patchy sclerosis of the proximal phalanx of the hand", "patchy sclerosis of the proximal phalanges of the hand", "uneven increase in bone density in innermost finger bone" ], "HP:0009857": [ "symphalangism affect the proximal phalanx of the hand", "symphalangism affecting the proximal phalanges of the hand", "fuse innermost hand bone", "fused innermost hand bones" ], "HP:0009873": [ "symphalangism affect the proximal phalanx of the hand", "symphalangism affecting the proximal phalanges of the hand", "fuse innermost hand bone", "fused innermost hand bones" ], "HP:0009858": [ "triangular shape proximal phalanx of the hand", "triangular shaped proximal phalanges of the hand", "triangular shape innermost finger bone", "triangular shaped innermost finger bone" ], "HP:0009877": [ "triangular shape proximal phalanx of the hand", "triangular shaped proximal phalanges of the hand", "triangular shape innermost finger bone", "triangular shaped innermost finger bone" ], "HP:0009875": [ "triangular shape distal phalanx of the hand", "triangular shaped distal phalanges of the hand", "triangular shape outermost bone of the hand", "triangular shaped outermost bone of the hand" ], "HP:0006061": [ "triangular shape distal phalanx of the hand", "triangular shaped distal phalanges of the hand", "triangular shape outermost bone of the hand", "triangular shaped outermost bone of the hand" ], "HP:0009842": [ "triangular shape distal phalanx of the hand", "triangular shaped distal phalanges of the hand", "triangular shape outermost bone of the hand", "triangular shaped outermost bone of the hand" ], "HP:0009878": [ "cerebellar ataxia associate with quadrupedal gait", "cerebellar ataxia associated with quadrupedal gait" ], "HP:0009879": [ "simplify gyral pattern", "simplified gyral pattern", "cortical gyral simplification" ], "HP:0009880": [ "broad distal phalanx of all finger", "broad distal phalanges of all fingers", "broad outermost hand bone", "broad outermost hand bones" ], "HP:0005816": [ "broad distal phalanx of all finger", "broad distal phalanges of all fingers", "broad outermost hand bone", "broad outermost hand bones" ], "HP:0009881": [ "aplasia of the distal phalanx of the hand", "aplasia of the distal phalanges of the hand", "absent distal phalanx of the hand", "absent distal phalanges of the hand", "absent outermost hand bone", "aplasia of outermost hand bone" ], "HP:0009882": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0001198": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0001202": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0001221": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0001229": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0005669": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0006075": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0006076": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0006132": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0006199": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0006223": [ "short distal phalanx of finger", "brachytelophalangy", "distal phalangeal hypoplasia", "hypoplasia of the distal phalanx", "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx of the hand", "hypoplasia of the distal phalanges of the hand", "hypoplasic terminal phalanx", "hypoplasic terminal phalanges", "hypoplastic distal phalanx", "hypoplastic distal phalanges", "hypoplastic terminal phalanx", "hypoplastic terminal phalanges", "short distal phalanx", "short distal phalanges", "short outermost finger bone", "terminal phalangeal hypoplasia of hand" ], "HP:0009883": [ "duplication of the distal phalanx of hand", "bifid terminal phalanx", "bifid terminal phalanges", "duplication of the outermost bone of hand", "notch outermost bone of hand", "notched outermost bone of hand", "partial / complete duplication of the distal phalanx of the hand", "partial / complete duplication of the distal phalanges of the hand" ], "HP:0001228": [ "duplication of the distal phalanx of hand", "bifid terminal phalanx", "bifid terminal phalanges", "duplication of the outermost bone of hand", "notch outermost bone of hand", "notched outermost bone of hand", "partial / complete duplication of the distal phalanx of the hand", "partial / complete duplication of the distal phalanges of the hand" ], "HP:0010007": [ "duplication of the distal phalanx of hand", "bifid terminal phalanx", "bifid terminal phalanges", "duplication of the outermost bone of hand", "notch outermost bone of hand", "notched outermost bone of hand", "partial / complete duplication of the distal phalanx of the hand", "partial / complete duplication of the distal phalanges of the hand" ], "HP:0009884": [ "taper distal phalanx of finger", "tapered distal phalanges of finger", "taper distal phalanx", "tapered distal phalanges", "taper distal phalanx of the hand", "tapered distal phalanges of the hand", "taper outermost finger bone", "tapered outermost finger bone" ], "HP:0006052": [ "taper distal phalanx of finger", "tapered distal phalanges of finger", "taper distal phalanx", "tapered distal phalanges", "taper distal phalanx of the hand", "tapered distal phalanges of the hand", "taper outermost finger bone", "tapered outermost finger bone" ], "HP:0009885": [ "obsolete prenatal short stature" ], "HP:0009886": [ "trichorrhexis nodosa" ], "HP:0009887": [ "abnormality of hair pigmentation", "abnormality of hair color", "abnormality of hair colour" ], "HP:0009888": [ "abnormality of secondary sexual hair" ], "HP:0009889": [ "localize hirsutism", "localized hirsutism", "localise abnormal hair growth", "localised abnormal hair growth", "localise hirsutism", "localised hirsutism", "localize abnormal hair growth", "localized abnormal hair growth" ], "HP:0009890": [ "high anterior hairline", "high frontal hairline" ], "HP:0009891": [ "underdeveloped supraorbital ridge", "underdeveloped supraorbital ridges", "depressed supraorbital margin", "depressed supraorbital margins", "depressed supraorbital ridge", "flat supraorbital margin", "flat supraorbital margins", "flat supraorbital ridge", "flatten bony protrusion above eye", "flattened bony protrusion above eyes", "hypoplasia of supraorbital margin", "hypoplasia of supraorbital margins", "hypoplasia of the supraorbital ridge", "hypoplasia of the supraorbital ridges", "hypoplastic supraorbital ridge", "hypoplastic supraorbital ridges", "shallow orbital ridge", "shallow orbital ridges", "shallow supraorbital ridge", "underdeveloped brow", "underdeveloped brows" ], "HP:0004667": [ "underdeveloped supraorbital ridge", "underdeveloped supraorbital ridges", "depressed supraorbital margin", "depressed supraorbital margins", "depressed supraorbital ridge", "flat supraorbital margin", "flat supraorbital margins", "flat supraorbital ridge", "flatten bony protrusion above eye", "flattened bony protrusion above eyes", "hypoplasia of supraorbital margin", "hypoplasia of supraorbital margins", "hypoplasia of the supraorbital ridge", "hypoplasia of the supraorbital ridges", "hypoplastic supraorbital ridge", "hypoplastic supraorbital ridges", "shallow orbital ridge", "shallow orbital ridges", "shallow supraorbital ridge", "underdeveloped brow", "underdeveloped brows" ], "HP:0004672": [ "underdeveloped supraorbital ridge", "underdeveloped supraorbital ridges", "depressed supraorbital margin", "depressed supraorbital margins", "depressed supraorbital ridge", "flat supraorbital margin", "flat supraorbital margins", "flat supraorbital ridge", "flatten bony protrusion above eye", "flattened bony protrusion above eyes", "hypoplasia of supraorbital margin", "hypoplasia of supraorbital margins", "hypoplasia of the supraorbital ridge", "hypoplasia of the supraorbital ridges", "hypoplastic supraorbital ridge", "hypoplastic supraorbital ridges", "shallow orbital ridge", "shallow orbital ridges", "shallow supraorbital ridge", "underdeveloped brow", "underdeveloped brows" ], "HP:0005337": [ "underdeveloped supraorbital ridge", "underdeveloped supraorbital ridges", "depressed supraorbital margin", "depressed supraorbital margins", "depressed supraorbital ridge", "flat supraorbital margin", "flat supraorbital margins", "flat supraorbital ridge", "flatten bony protrusion above eye", "flattened bony protrusion above eyes", "hypoplasia of supraorbital margin", "hypoplasia of supraorbital margins", "hypoplasia of the supraorbital ridge", "hypoplasia of the supraorbital ridges", "hypoplastic supraorbital ridge", "hypoplastic supraorbital ridges", "shallow orbital ridge", "shallow orbital ridges", "shallow supraorbital ridge", "underdeveloped brow", "underdeveloped brows" ], "HP:0009892": [ "anotia", "absent ear", "absent ears", "congenital absence of external ear" ], "HP:0009893": [ "telangiectasia of the ear" ], "HP:0009894": [ "thickened ear", "thickened ears" ], "HP:0009895": [ "abnormality of the crus of the helix", "abnormality of the crus of the ear" ], "HP:0009896": [ "abnormality of the antitragus" ], "HP:0009897": [ "horizontal crus of helix", "helix , crus , horizontal", "horizontal orientation of the crus of helix", "horizontal orientation of the ear crus", "railroad track ear", "railroad track ears", "railroad track sign" ], "HP:0009898": [ "underdeveloped crus of the helix", "hypoplasia of the crus of the ear", "underdeveloped crus of the ear" ], "HP:0009899": [ "prominent crus of helix", "abnormal prominence of the crus of the ear", "helix , crus , prominent", "hyperplastic helix crus", "hypertrophic helix crus" ], "HP:0009900": [ "unilateral deafness", "deafness in one ear", "deafness , unilateral" ], "HP:0009901": [ "crumple ear", "crumpled ear" ], "HP:0009902": [ "cleft helix", "notch helix", "notched helix", "notching of the ear helix" ], "HP:0009903": [ "conjunctival nodule" ], "HP:0009904": [ "prominent ear helix", "large helix" ], "HP:0009905": [ "thin ear helix" ], "HP:0009906": [ "aplasia / hypoplasia of the earlobe", "aplasia / hypoplasia of the earlobes", "absent / small ear lobe", "absent / small ear lobes", "absent / underdevelop ear lobe", "absent / underdeveloped ear lobes" ], "HP:0009907": [ "attach earlobe", "attached earlobe", "adherent earlobe" ], "HP:0009908": [ "anterior crease of earlobe", "anterior creases of earlobe", "earlobe crease", "transverse earlobe crease", "transverse earlobe creases" ], "HP:0008604": [ "anterior crease of earlobe", "anterior creases of earlobe", "earlobe crease", "transverse earlobe crease", "transverse earlobe creases" ], "HP:0009909": [ "uplifted earlobe", "fleshy upturned lobule", "fleshy upturned lobules", "lobe , uplift", "lobe , uplifted", "uplifted earlobes", "upturned earlobe", "upturned earlobes" ], "HP:0009764": [ "uplifted earlobe", "fleshy upturned lobule", "fleshy upturned lobules", "lobe , uplift", "lobe , uplifted", "uplifted earlobes", "upturned earlobe", "upturned earlobes" ], "HP:0009910": [ "aplasia of the middle ear ossicle", "aplasia of the middle ear ossicles", "absent middle ear bone", "absent middle ear bones", "absent middle ear ossicle", "absent middle ear ossicles" ], "HP:0009911": [ "abnormal temporal bone morphology", "abnormality of the temporal bone" ], "HP:0009912": [ "abnormality of the tragus" ], "HP:0009913": [ "aplasia / hypoplasia of the tragus", "absent / small tragus", "absent / underdevelop tragus", "absent / underdeveloped tragus" ], "HP:0009914": [ "cyclopia", "cyclops eye", "single central eye" ], "HP:0009915": [ "corneal asymmetry", "asymmetry of the cornea", "asymmetry of the corneas" ], "HP:0009916": [ "anisocoria", "asymmetric pupil size", "asymmetric pupil sizes", "asymmetry of the pupil", "asymmetry of the pupils", "unequal pupil dilatation", "unequal pupil size" ], "HP:0009917": [ "persistent pupillary membrane" ], "HP:0009918": [ "ectopia pupillae", "corectopia", "displace pupil", "displaced pupil" ], "HP:0009919": [ "retinoblastoma", "retina tumor", "retina tumour" ], "HP:0009920": [ "nevus of ota", "congenital melanosis bulbi", "naevus fuscoceruleus ophthalmomaxillaris", "nevus fuscoceruleus ophthalmomaxillaris", "oculodermal melanocytosis" ], "HP:0009921": [ "duane anomaly", "globe retraction and deviation on adduction", "limited eye motility from duane anomaly", "limited eye movement from duane anomaly" ], "HP:0001109": [ "duane anomaly", "globe retraction and deviation on adduction", "limited eye motility from duane anomaly", "limited eye movement from duane anomaly" ], "HP:0009922": [ "vascular remnant arise from the disc", "vascular remnant arising from the disc", "persistence of the hyaloid artery", "persistent hyaloid artery" ], "HP:0009924": [ "aplasia / hypoplasia involve the nose", "aplasia / hypoplasia involving the nose", "decrease nasal size", "decreased nasal size", "decreased size of nose", "hypoplasia of the nose", "hypotrophic nose" ], "HP:0009926": [ "epiphora", "increase lacrimation", "increased lacrimation", "increase tear", "increased tears", "tear", "tearing", "watery eye", "watery eyes" ], "HP:0001486": [ "epiphora", "increase lacrimation", "increased lacrimation", "increase tear", "increased tears", "tear", "tearing", "watery eye", "watery eyes" ], "HP:0009927": [ "aplasia of the nose", "absent nose", "arrhinia", "failure of development of nose", "miss nose", "missing nose", "nasal underdevelopment", "underdevelopment of nose" ], "HP:0009928": [ "thick nasal ala", "thick nasal alae", "ala nasi , thick", "thickening of the ala nasi", "thickening of the alae nasi" ], "HP:0009929": [ "abnormality of the columella", "anomaly of the columella", "deformity of the columella", "malformation of the columella" ], "HP:0009930": [ "asymmetry of the naris", "asymmetry of the nares", "asymmetry of nostril", "asymmetry of nostrils", "crook nostril", "crooked nostrils", "unequal nostril shape", "unequal nostril size", "uneven nostril shape", "uneven nostril size" ], "HP:0009931": [ "enlarge naris", "enlarged naris", "broad nostril", "dilate naris", "dilated nares", "dilate nostril", "dilated nostril", "enlarged nares", "enlarge nostril", "enlarged nostril", "increase diameter of naris", "increased diameter of nares", "increase diameter of nostril", "increased diameter of nostril", "increase width of naris", "increased width of nares", "large naris", "large nares", "naris , broad", "naris , enlarge", "naris , enlarged", "wide naris", "wide nares", "wide nostril" ], "HP:0009932": [ "single naris", "mono nostril", "one nostril", "single nare", "single nostril" ], "HP:0009933": [ "narrow naris", "collapse nostril", "collapsed nostrils", "naris , narrow", "naris , slit - like", "narrow nares", "narrow nostril", "narrow nostrils", "slit - like nostril", "slit - like nostrils", "small nostril", "small nostrils", "thin naris", "thin nares", "thin nostril", "thin nostrils" ], "HP:0009934": [ "supernumerary naris", "accessory naris", "accessory nares", "accessory nostril", "extra nostril", "supernumerary nares", "supernumerary nostril", "supernumerary nostrils" ], "HP:0009935": [ "aplasia / hypoplasia of the nasal septum", "ageneis of nasal septum", "failure of development of nasal septum", "underdevelopment of nasal septum" ], "HP:0009936": [ "narrow nasal septum", "decrease width of nasal septum", "decreased width of nasal septum", "narrow septum of nose", "thin nasal septum", "thin septum of nose" ], "HP:0009937": [ "facial hirsutism", "excessive face hair" ], "HP:0009938": [ "sunken cheek", "sunken cheeks", "depressed cheek", "depressed cheeks", "hollow cheek", "hollow cheeks" ], "HP:0009939": [ "mandibular aplasia", "absence of low jaw", "absence of lower jaw", "absence of low jaw bone", "absence of lower jaw bone", "absence of lower jaw bones", "absence of mandible", "absent mandible", "agenesis of the mandible", "agnathia", "aplasia of the low jaw bone", "aplasia of the lower jaw bone", "failure of development of low jaw", "failure of development of lower jaw", "failure of development of mandible", "miss low jaw", "missing lower jaw" ], "HP:0009940": [ "asymmetry of the mandible", "asymmetry of low jaw", "asymmetry of lower jaw", "cant low jaw", "canted lower jaw", "cant mandible", "canted mandible", "crook low jaw", "crooked lower jaw", "deviation of low jaw", "deviation of lower jaw", "deviation of mandible", "deviation of the low jaw", "deviation of the lower jaw", "deviation of the mandible", "low jaw shift to one side", "lower jaw shifted to one side", "tilt low jaw", "tilted lower jaw", "tilt mandible", "tilted mandible", "uneven low jaw", "uneven lower jaw", "uneven mandible" ], "HP:0009941": [ "asymmetry of the mouth", "asymmetry of oral cavity", "cant mouth", "canted mouth", "crook mouth", "crooked mouth", "tilt mouth", "tilted mouth", "uneven mouth" ], "HP:0009942": [ "duplication of thumb phalanx", "complete / partial duplication of phalanx of the thumb", "complete / partial duplication of phalanges of the thumb", "duplicate thumb", "duplicated thumb", "duplicated thumbs", "duplication of phalanx of thumb" ], "HP:0009661": [ "duplication of thumb phalanx", "complete / partial duplication of phalanx of the thumb", "complete / partial duplication of phalanges of the thumb", "duplicate thumb", "duplicated thumb", "duplicated thumbs", "duplication of phalanx of thumb" ], "HP:0009943": [ "complete duplication of thumb phalanx", "complete duplication of the phalanx of the thumb", "complete duplication of the phalanges of the thumb", "complete duplication of thumb bone", "complete duplication of thumb bones", "digitalization of thumb", "digitalization of thumbs" ], "HP:0002801": [ "complete duplication of thumb phalanx", "complete duplication of the phalanx of the thumb", "complete duplication of the phalanges of the thumb", "complete duplication of thumb bone", "complete duplication of thumb bones", "digitalization of thumb", "digitalization of thumbs" ], "HP:0004067": [ "complete duplication of thumb phalanx", "complete duplication of the phalanx of the thumb", "complete duplication of the phalanges of the thumb", "complete duplication of thumb bone", "complete duplication of thumb bones", "digitalization of thumb", "digitalization of thumbs" ], "HP:0009944": [ "partial duplication of thumb phalanx", "bifid thumb", "notching of thumb phalanx", "notching of thumb phalanges", "partial duplication of the phalanx of the thumb", "partial duplication of the phalanges of the thumb", "partial duplication of the thumb bone", "partial duplication of the thumb bones" ], "HP:0001244": [ "partial duplication of thumb phalanx", "bifid thumb", "notching of thumb phalanx", "notching of thumb phalanges", "partial duplication of the phalanx of the thumb", "partial duplication of the phalanges of the thumb", "partial duplication of the thumb bone", "partial duplication of the thumb bones" ], "HP:0004070": [ "partial duplication of thumb phalanx", "bifid thumb", "notching of thumb phalanx", "notching of thumb phalanges", "partial duplication of the phalanx of the thumb", "partial duplication of the phalanges of the thumb", "partial duplication of the thumb bone", "partial duplication of the thumb bones" ], "HP:0009945": [ "duplication of phalanx of 2nd finger", "duplication of the bone of index finger", "duplication of the bones of index finger", "partial / complete duplication of phalanx of the 2nd finger", "partial / complete duplication of phalanges of the 2nd finger" ], "HP:0009946": [ "polydactyly affect the 2nd finger", "polydactyly affecting the 2nd finger", "extra index finger" ], "HP:0009947": [ "duplication of the proximal phalanx of the 2nd finger", "duplication of the proximal bone of the index finger", "duplication of the proximal bones of the index finger", "partial / complete duplication of the proximal phalanx of the 2nd finger" ], "HP:0009948": [ "obsolete duplication of terminal index finger phalanx", "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" ], "HP:0009949": [ "duplication of the middle phalanx of the 2nd finger", "partial / complete duplication of the middle bone of the index finger", "partial / complete duplication of the middle bones of the index finger", "partial / complete duplication of the middle phalanx of the 2nd finger" ], "HP:0009950": [ "complete duplication of the distal phalanx of the 2nd finger", "complete duplication of the outermost bone of the index finger" ], "HP:0009951": [ "partial duplication of the distal phalanx of the 2nd finger", "bifid terminal phalanx of the 2nd finger", "notch outermost bone of the index finger", "notched outermost bone of the index finger", "partial duplication of the outermost bone of the 2nd finger" ], "HP:0009952": [ "complete duplication of the middle phalanx of the 2nd finger", "complete duplication of the middle bone of the index finger" ], "HP:0009953": [ "partial duplication of the middle phalanx of the 2nd finger", "partial duplication of the middle bone of the index finger" ], "HP:0009954": [ "complete duplication of the proximal phalanx of the 2nd finger", "complete duplication of the proximal bone of the index finger" ], "HP:0009955": [ "partial duplication of the proximal phalanx of the 2nd finger", "partial duplication of the proximal bone of the index finger", "partial duplication of the proximal bones of the index finger" ], "HP:0009956": [ "partial duplication of the phalanx of the 2nd finger", "partial duplication of the phalanges of the 2nd finger", "partial duplication of the bone of the index finger", "partial duplication of the bones of the index finger" ], "HP:0009957": [ "complete duplication of the phalanx of the 2nd finger", "complete duplication of the phalanges of the 2nd finger", "complete duplication of the bone of the index finger", "complete duplication of the bones of the index finger" ], "HP:0009958": [ "polydactyly affect the 3rd finger", "polydactyly affecting the 3rd finger", "extra middle finger" ], "HP:0009959": [ "duplication of phalanx of 3rd finger", "duplication of middle finger bone", "partial / complete duplication of phalanx of the 3rd finger", "partial / complete duplication of phalanges of the 3rd finger" ], "HP:0009960": [ "complete duplication of the phalanx of the 3rd finger", "complete duplication of the phalanges of the 3rd finger", "complete duplication of middle finger bone", "complete duplication of middle finger bones" ], "HP:0009961": [ "partial duplication of the phalanx of the 3rd finger", "partial duplication of the phalanges of the 3rd finger", "partial duplication of middle finger bone", "partial duplication of middle finger bones" ], "HP:0009962": [ "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" ], "HP:0009963": [ "obsolete accessory middle phalanx of middle finger", "obsolete accessory middle - finger phalanx", "obsolete accessory middle - finger phalanges", "duplication of the middle phalanx of the 3rd finger", "duplication of the middle bone of the middle finger", "partial / complete duplication of the middle phalanx of the 3rd finger" ], "HP:0009964": [ "duplication of the proximal phalanx of the 3rd finger", "duplication of the proximal bone of the middle finger", "partial / complete duplication of the proximal phalanx of the 3rd finger" ], "HP:0009965": [ "complete duplication of the distal phalanx of the 3rd finger", "complete duplication of the outermost bone of the 3rd finger" ], "HP:0009966": [ "complete duplication of the middle phalanx of the 3rd finger", "complete duplication of the middle bone of the middle finger" ], "HP:0009967": [ "complete duplication of the proximal phalanx of the 3rd finger", "complete duplication of the innermost bone of the 3rd finger" ], "HP:0009968": [ "partial duplication of the distal phalanx of the 3rd finger", "bifid terminal phalanx of the 3rd finger", "notch outermost bone of the middle finger", "notched outermost bone of the middle finger", "partial duplication of the outermost bone of the middle finger" ], "HP:0009969": [ "partial duplication of the middle phalanx of the 3rd finger", "partial duplication of the middle bone of the 3rd finger" ], "HP:0009970": [ "partial duplication of the proximal phalanx of the 3rd finger", "partial duplication of the proximal bone of the middle finger" ], "HP:0009971": [ "polydactyly affect the 4th finger", "polydactyly affecting the 4th finger", "extra ring finger" ], "HP:0009972": [ "duplication of phalanx of 4th finger", "duplication of bone of the ring finger", "duplication of bones of the ring finger", "partial / complete duplication of phalanx of the 4th finger", "partial / complete duplication of phalanges of the 4th finger" ], "HP:0009973": [ "complete duplication of the phalanx of the 4th finger", "complete duplication of the phalanges of the 4th finger", "complete duplication of the bone of the ring finger", "complete duplication of the bones of the ring finger" ], "HP:0009974": [ "partial duplication of the phalanx of the 4th finger", "partial duplication of the phalanges of the 4th finger", "partial duplication of the bone of the ring finger", "partial duplication of the bones of the ring finger" ], "HP:0009975": [ "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" ], "HP:0009976": [ "duplication of the middle phalanx of the 4th finger", "partial / complete duplication of the middle bone of the ring finger", "partial / complete duplication of the middle phalanx of the 4th finger" ], "HP:0009977": [ "duplication of the proximal phalanx of the 4th finger", "duplication of the proximal bone of the ring finger", "partial / complete duplication of the proximal phalanx of the 4th finger" ], "HP:0009978": [ "complete duplication of the distal phalanx of the 4th finger", "complete duplication of the outermost bone of the ring finger" ], "HP:0009979": [ "complete duplication of the middle phalanx of the 4th finger", "complete duplication of the middle bone of the ring finger" ], "HP:0009980": [ "complete duplication of the proximal phalanx of the 4th finger", "complete duplication of the proximal bone of the ring finger" ], "HP:0009981": [ "partial duplication of the distal phalanx of the 4th finger", "bifid terminal phalanx of the 4th finger", "notch outermost bone of the ring finger", "notched outermost bone of the ring finger", "partial duplication of the outermost bone of the ring finger" ], "HP:0009982": [ "partial duplication of the middle phalanx of the 4th finger", "partial duplication of the middle bone of the ring finger" ], "HP:0009983": [ "partial duplication of the proximal phalanx of the 4th finger", "partial duplication of the innermost bone of the ring finger" ], "HP:0009985": [ "duplication of phalanx of 5th finger", "partial / complete duplication of little finger bone", "partial / complete duplication of phalanx of the 5th finger", "partial / complete duplication of phalanges of the 5th finger", "partial / complete duplication of pinkie finger bone", "partial / complete duplication of pinky finger bone" ], "HP:0009986": [ "complete duplication of the phalanx of the 5th finger", "complete duplication of the phalanges of the 5th finger", "complete duplication of the little finger bone", "complete duplication of the pinkie finger bone", "complete duplication of the pinky finger bone" ], "HP:0009987": [ "partial duplication of the phalanx of the 5th finger", "partial duplication of the phalanges of the 5th finger", "partial duplication of the little finger bone", "partial duplication of the pinkie finger bone", "partial duplication of the pinky finger bone" ], "HP:0009988": [ "duplication of the distal phalanx of the 5th finger", "duplication of the outermost little finger bone", "duplication of the outermost pinkie finger bone", "duplication of the outermost pinky finger bone", "partial / complete duplication of the distal phalanx of the 5th finger" ], "HP:0009989": [ "duplication of the middle phalanx of the 5th finger", "duplication of the middle little finger bone", "duplication of the middle pinkie finger bone", "duplication of the middle pinky finger bone", "partial / complete duplication of the middle phalanx of the 5th finger" ], "HP:0009990": [ "duplication of the proximal phalanx of the 5th finger", "duplication of the innermost little finger bone", "duplication of the innermost pinkie finger bone", "duplication of the innermost pinky finger bone", "partial / complete duplication of the proximal phalanx of the 5th finger" ], "HP:0009991": [ "complete duplication of the distal phalanx of the 5th finger", "complete duplication of the outermost little finger bone", "complete duplication of the outermost pinkie finger bone", "complete duplication of the outermost pinky finger bone" ], "HP:0009992": [ "complete duplication of the middle phalanx of the 5th finger", "complete duplication of the middle little finger bone", "complete duplication of the middle pinkie finger bone", "complete duplication of the middle pinky finger bone" ], "HP:0009993": [ "complete duplication of the proximal phalanx of the 5th finger", "complete duplication of the innermost little finger bone", "complete duplication of the innermost pinkie finger bone", "complete duplication of the innermost pinky finger bone" ], "HP:0009994": [ "partial duplication of the distal phalanx of the 5th finger", "bifid terminal phalanx of the 5th finger", "notch outermost pinky finger bone", "notched outermost pinky finger bone", "partial duplication of outermost little finger bone", "partial duplication of outermost pinkie finger bone", "partial duplication of outermost pinky finger bone" ], "HP:0009995": [ "partial duplication of the middle phalanx of the 5th finger", "partial duplication of the middle little finger bone", "partial duplication of the middle pinkie finger bone", "partial duplication of the middle pinky finger bone" ], "HP:0009996": [ "partial duplication of the proximal phalanx of the 5th finger", "partial duplication of the innermost little finger bone", "partial duplication of the innermost pinkie finger bone", "partial duplication of the innermost pinky finger bone" ], "HP:0009997": [ "duplication of phalanx of hand", "duplication of finger bone", "duplication of finger bones" ], "HP:0009143": [ "duplication of phalanx of hand", "duplication of finger bone", "duplication of finger bones" ], "HP:0009998": [ "complete duplication of phalanx of hand", "complete duplication of hand bone", "complete duplication of hand bones" ], "HP:0009999": [ "partial duplication of the phalanx of hand", "partial duplication of hand bone", "partial duplication of hand bones" ], "HP:0010000": [ "complete duplication of the proximal phalanx of the hand", "complete duplication of the proximal phalanges of the hand", "complete duplication of the innermost bone of the hand", "complete duplication of the innermost bones of the hand" ], "HP:0010001": [ "complete duplication of the distal phalanx of the hand", "complete duplication of the distal phalanges of the hand", "complete duplication of the outermost bone of the hand", "complete duplication of the outermost bones of the hand" ], "HP:0010002": [ "complete duplication of the middle phalanx of the hand", "complete duplication of the middle phalanges of the hand", "complete duplication of the middle bone of the hand", "complete duplication of the middle bones of the hand" ], "HP:0010003": [ "partial duplication of the proximal phalanx of the hand", "partial duplication of the proximal phalanges of the hand", "partial duplication of the innermost bone of the hand", "partial duplication of the innermost bones of the hand" ], "HP:0010004": [ "partial duplication of the distal phalanx of the hand", "partial duplication of the distal phalanges of the hand", "bifid terminal phalanx of the hand", "bifid terminal phalanges of the hand", "partial duplication of the outermost bone of the hand" ], "HP:0006196": [ "partial duplication of the distal phalanx of the hand", "partial duplication of the distal phalanges of the hand", "bifid terminal phalanx of the hand", "bifid terminal phalanges of the hand", "partial duplication of the outermost bone of the hand" ], "HP:0010005": [ "partial duplication of the middle phalanx of the hand", "partial duplication of the middle phalanges of the hand", "partial duplication of the middle bone of hand", "partial duplication of the middle bones of hand" ], "HP:0010006": [ "duplication of the proximal phalanx of hand", "duplication of the innermost bone of hand", "duplication of the innermost bones of hand", "partial / complete duplication of the proximal phalanx of the hand", "partial / complete duplication of the proximal phalanges of the hand" ], "HP:0010008": [ "duplication of the middle phalanx of hand", "duplication of the middle bone of hand", "duplication of the middle bones of hand", "partial / complete duplication of the middle phalanx of the hand", "partial / complete duplication of the middle phalanges of the hand" ], "HP:0010009": [ "abnormality of the 1st metacarpal", "abnormality of the 1st long bone of hand" ], "HP:0010010": [ "abnormality of the 2nd metacarpal", "abnormality of the 2nd long bone of hand" ], "HP:0010011": [ "abnormality of the 3rd metacarpal", "abnormality of the 3rd long bone of hand" ], "HP:0010012": [ "abnormality of the 4th metacarpal", "abnormality of the 4th long bone of hand" ], "HP:0010013": [ "abnormality of the 5th metacarpal", "abnormality of the 5th long bone of hand" ], "HP:0010014": [ "abnormality of the epiphysis of the 1st metacarpal", "abnormality of the end part of the 1st long bone of hand" ], "HP:0010015": [ "absent epiphysis of the 1st metacarpal", "absent end part of the 1st long bone of hand" ], "HP:0010016": [ "bracket epiphysis of the 1st metacarpal", "bracket shape end part of 1st long bone of hand", "bracket shaped end part of 1st long bone of hand" ], "HP:0010017": [ "cone - shaped epiphysis of the 1st metacarpal", "cone - shaped end part of the 1st long bone of hand" ], "HP:0010018": [ "enlarged epiphysis of the 1st metacarpal", "enlarged end part of the 1st long bone of hand" ], "HP:0010019": [ "fragmentation of the epiphysis of the 1st metacarpal", "fragmentation of the end part of the 1st long bone of hand" ], "HP:0010020": [ "irregular epiphysis of the 1st metacarpal", "irregular end part of the 1st long bone of hand" ], "HP:0010021": [ "ivory epiphysis of the 1st metacarpal", "increase bone density of end part of the 1st long bone of hand", "increased bone density of end part of the 1st long bone of hand" ], "HP:0010022": [ "pseudoepiphysis of the 1st metacarpal" ], "HP:0010023": [ "small epiphysis of the 1st metacarpal", "small end part of the 1st long bone of hand" ], "HP:0010024": [ "epiphyseal stippling of the first metacarpal", "speckled calcification in the end part of the first long bone of hand", "speckled calcifications in the end part of the first long bone of hand", "stippling of the epiphysis of the 1st metacarpal" ], "HP:0010025": [ "triangular epiphysis of the 1st metacarpal", "triangular end part of the 1st long bone of hand" ], "HP:0010026": [ "aplasia / hypoplasia of the 1st metacarpal", "absent / small 1st long bone of hand", "absent / underdevelop 1st long bone of hand", "absent / underdeveloped 1st long bone of hand" ], "HP:0010027": [ "broad 1st metacarpal", "wide 1st long bone of hand" ], "HP:0010028": [ "bullet - shape 1st metacarpal", "bullet - shaped 1st metacarpal", "bullet - shape 1st long bone of hand", "bullet - shaped 1st long bone of hand" ], "HP:0010029": [ "curve 1st metacarpal", "curved 1st metacarpal", "curve 1st long bone of hand", "curved 1st long bone of hand" ], "HP:0010030": [ "osteolytic defect of the 1st metacarpal", "osteolytic defects of the 1st metacarpal" ], "HP:0010031": [ "patchy sclerosis of the 1st metacarpal", "uneven increase in bone density in 1st long bone of hand" ], "HP:0010033": [ "triangular shape 1st metacarpal", "triangular shaped 1st metacarpal", "triangular shape 1st long bone of hand", "triangular shaped 1st long bone of hand" ], "HP:0010034": [ "short 1st metacarpal", "first metacarpal hypoplasia", "first metacarpal hypoplastic", "first metacarpals hypoplastic", "hypoplastic 1st metacarpal", "short first metacarpal", "short first metacarpals", "shorten 1st long bone of hand", "shortened 1st long bone of hand" ], "HP:0001190": [ "short 1st metacarpal", "first metacarpal hypoplasia", "first metacarpal hypoplastic", "first metacarpals hypoplastic", "hypoplastic 1st metacarpal", "short first metacarpal", "short first metacarpals", "shorten 1st long bone of hand", "shortened 1st long bone of hand" ], "HP:0001499": [ "short 1st metacarpal", "first metacarpal hypoplasia", "first metacarpal hypoplastic", "first metacarpals hypoplastic", "hypoplastic 1st metacarpal", "short first metacarpal", "short first metacarpals", "shorten 1st long bone of hand", "shortened 1st long bone of hand" ], "HP:0005898": [ "short 1st metacarpal", "first metacarpal hypoplasia", "first metacarpal hypoplastic", "first metacarpals hypoplastic", "hypoplastic 1st metacarpal", "short first metacarpal", "short first metacarpals", "shorten 1st long bone of hand", "shortened 1st long bone of hand" ], "HP:0006141": [ "short 1st metacarpal", "first metacarpal hypoplasia", "first metacarpal hypoplastic", "first metacarpals hypoplastic", "hypoplastic 1st metacarpal", "short first metacarpal", "short first metacarpals", "shorten 1st long bone of hand", "shortened 1st long bone of hand" ], "HP:0010035": [ "aplasia of the 1st metacarpal", "absent 1st long bone of hand", "absent first metacarpal" ], "HP:0006027": [ "aplasia of the 1st metacarpal", "absent 1st long bone of hand", "absent first metacarpal" ], "HP:0010036": [ "aplasia / hypoplasia of the 2nd metacarpal", "absent / small 2nd long bone of hand", "absent / underdevelop 2nd long bone of hand", "absent / underdeveloped 2nd long bone of hand" ], "HP:0010037": [ "aplasia of the 2nd metacarpal", "absent 2nd long bone of hand" ], "HP:0010038": [ "short 2nd metacarpal", "hypoplastic 2nd metacarpal", "rudimentary 2nd metacarpal", "shorten 2nd long bone of hand", "shortened 2nd long bone of hand" ], "HP:0006231": [ "short 2nd metacarpal", "hypoplastic 2nd metacarpal", "rudimentary 2nd metacarpal", "shorten 2nd long bone of hand", "shortened 2nd long bone of hand" ], "HP:0010039": [ "aplasia / hypoplasia of the 3rd metacarpal", "absent / small 3rd long bone of hand", "absent / underdevelop 3rd long bone of hand", "absent / underdeveloped 3rd long bone of hand" ], "HP:0010040": [ "aplasia of the 3rd metacarpal", "absent 3rd long bone of hand" ], "HP:0010041": [ "short 3rd metacarpal", "hypoplastic 3rd metacarpal", "short third metacarpal", "short third metacarpals", "shorten 3rd long bone of hand", "shortened 3rd long bone of hand", "small 3rd metacarpal", "small 3rd metacarpals" ], "HP:0005624": [ "short 3rd metacarpal", "hypoplastic 3rd metacarpal", "short third metacarpal", "short third metacarpals", "shorten 3rd long bone of hand", "shortened 3rd long bone of hand", "small 3rd metacarpal", "small 3rd metacarpals" ], "HP:0006074": [ "short 3rd metacarpal", "hypoplastic 3rd metacarpal", "short third metacarpal", "short third metacarpals", "shorten 3rd long bone of hand", "shortened 3rd long bone of hand", "small 3rd metacarpal", "small 3rd metacarpals" ], "HP:0006120": [ "short 3rd metacarpal", "hypoplastic 3rd metacarpal", "short third metacarpal", "short third metacarpals", "shorten 3rd long bone of hand", "shortened 3rd long bone of hand", "small 3rd metacarpal", "small 3rd metacarpals" ], "HP:0010042": [ "aplasia / hypoplasia of the 4th metacarpal", "absent / small 4th long bone of hand", "absent / underdevelop 4th long bone of hand", "absent / underdeveloped 4th long bone of hand" ], "HP:0010043": [ "aplasia of the 4th metacarpal", "absent 4th long bone of hand" ], "HP:0010044": [ "short 4th metacarpal", "hypoplastic fourth metacarpal", "short 4th metacarpals", "short fourth metacarpal", "short fourth metacarpals", "shorten 4th long bone of hand", "shortened 4th long bone of hand" ], "HP:0005094": [ "short 4th metacarpal", "hypoplastic fourth metacarpal", "short 4th metacarpals", "short fourth metacarpal", "short fourth metacarpals", "shorten 4th long bone of hand", "shortened 4th long bone of hand" ], "HP:0010045": [ "aplasia / hypoplasia of the 5th metacarpal", "absent / small 5th long bone of hand", "absent / underdevelop 5th long bone of hand", "absent / underdeveloped 5th long bone of hand" ], "HP:0010046": [ "aplasia of the 5th metacarpal", "absent 5th long bone of hand", "absent 5th metacarpal" ], "HP:0006103": [ "aplasia of the 5th metacarpal", "absent 5th long bone of hand", "absent 5th metacarpal" ], "HP:0010047": [ "short 5th metacarpal", "fifth metacarpal hypoplasia", "hypoplastic 5th metacarpal", "short fifth metacarpal", "short fifth metacarpals", "shorten 5th long bone of hand", "shortened 5th long bone of hand" ], "HP:0005737": [ "short 5th metacarpal", "fifth metacarpal hypoplasia", "hypoplastic 5th metacarpal", "short fifth metacarpal", "short fifth metacarpals", "shorten 5th long bone of hand", "shortened 5th long bone of hand" ], "HP:0006004": [ "short 5th metacarpal", "fifth metacarpal hypoplasia", "hypoplastic 5th metacarpal", "short fifth metacarpal", "short fifth metacarpals", "shorten 5th long bone of hand", "shortened 5th long bone of hand" ], "HP:0006222": [ "short 5th metacarpal", "fifth metacarpal hypoplasia", "hypoplastic 5th metacarpal", "short fifth metacarpal", "short fifth metacarpals", "shorten 5th long bone of hand", "shortened 5th long bone of hand" ], "HP:0010048": [ "aplasia of metacarpal bone", "aplasia of metacarpal bones", "absent long bone of hand", "absent metacarpal", "absent metacarpals" ], "HP:0005911": [ "aplasia of metacarpal bone", "aplasia of metacarpal bones", "absent long bone of hand", "absent metacarpal", "absent metacarpals" ], "HP:0010049": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0001164": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0005695": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0005717": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0005909": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0006047": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0006183": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0006186": [ "short metacarpal", "brachymetacarpalia", "hypoplastic metacarpal", "metacarpal hypoplasia", "short metacarpal bone", "short metacarpal bones", "short metacarpals", "shorten long bone of hand", "shortened long bone of hand", "shortened long bones of hand", "shorten metacarpal", "shortened metacarpals", "shortening of metacarpal", "shortening of metacarpals" ], "HP:0010051": [ "deviation of the hallux", "displacement of big toe", "displacement of the hallux" ], "HP:0004700": [ "deviation of the hallux", "displacement of big toe", "displacement of the hallux" ], "HP:0010052": [ "abnormal morphology of the proximal phalanx of the hallux", "abnormal innermost big toe bone", "abnormality of the proximal phalanx of the hallux" ], "HP:0010053": [ "abnormality of the distal phalanx of the hallux", "abnormality of the outermost bone of the big toe" ], "HP:0010054": [ "abnormality of the first metatarsal bone", "abnormality of the 1st long bone of foot" ], "HP:0010055": [ "broad hallux", "abnormally broad great toe", "abnormally broad great toes", "broad big toe", "broad great toe", "broad great toes", "broad halluces", "wide big toe" ], "HP:0001834": [ "broad hallux", "abnormally broad great toe", "abnormally broad great toes", "broad big toe", "broad great toe", "broad great toes", "broad halluces", "wide big toe" ], "HP:0003094": [ "broad hallux", "abnormally broad great toe", "abnormally broad great toes", "broad big toe", "broad great toe", "broad great toes", "broad halluces", "wide big toe" ], "HP:0004710": [ "broad hallux", "abnormally broad great toe", "abnormally broad great toes", "broad big toe", "broad great toe", "broad great toes", "broad halluces", "wide big toe" ], "HP:0005883": [ "broad hallux", "abnormally broad great toe", "abnormally broad great toes", "broad big toe", "broad great toe", "broad great toes", "broad halluces", "wide big toe" ], "HP:0010056": [ "abnormality of the epiphysis of the hallux", "abnormality of the epiphyses of the hallux", "abnormality of the end part of the big toe bone" ], "HP:0010057": [ "abnormality of the phalanx of the hallux", "abnormality of the phalanges of the hallux", "abnormal big toe bone", "abnormal big toe bones" ], "HP:0010058": [ "aplasia / hypoplasia of the phalanx of the hallux", "aplasia / hypoplasia of the phalanges of the hallux", "absent / small big toe bone", "absent / underdevelop big toe bone", "absent / underdeveloped big toe bone" ], "HP:0010059": [ "broad hallux phalanx", "broad bone of big toe", "broad phalanx of the hallux", "broad phalanges of the hallux", "wide bone of big toe" ], "HP:0010060": [ "bullet - shape hallux phalanx", "bullet - shaped hallux phalanx", "bullet - shape bone of big toe", "bullet - shaped bone of big toe", "bullet - shaped phalanx of the hallux", "bullet - shaped phalanges of the hallux" ], "HP:0010061": [ "curve hallux phalanx", "curved hallux phalanx", "curve bone of big toe", "curve bones of big toe", "curve phalanx of the hallux", "curved phalanges of the hallux" ], "HP:0010062": [ "osteolytic defect of the phalanx of the hallux", "osteolytic defects of the phalanges of the hallux" ], "HP:0010063": [ "patchy sclerosis of hallux phalanx", "patchy sclerosis of the phalanx of the hallux", "patchy sclerosis of the phalanges of the hallux", "uneven increase in bone density in big toe bone" ], "HP:0010064": [ "symphalangism affect the phalanx of the hallux", "symphalangism affecting the phalanges of the hallux", "fuse big toe bone", "fused big toe bones", "hallucal symphalangism" ], "HP:0004687": [ "symphalangism affect the phalanx of the hallux", "symphalangism affecting the phalanges of the hallux", "fuse big toe bone", "fused big toe bones", "hallucal symphalangism" ], "HP:0010065": [ "triangular shape phalanx of the hallux", "triangular shaped phalanges of the hallux", "triangular shape bone of big toe", "triangular shaped bones of big toe" ], "HP:0010066": [ "duplication of phalanx of hallux", "duplicate hallux", "duplicated hallux", "duplication of big toe bone", "duplication of great toe", "duplication of great toes", "duplication of phalanx of big toe", "hallucal duplication", "partial / complete duplication of the phalanx of the hallux", "partial / complete duplication of the phalanges of the hallux" ], "HP:0001784": [ "duplication of phalanx of hallux", "duplicate hallux", "duplicated hallux", "duplication of big toe bone", "duplication of great toe", "duplication of great toes", "duplication of phalanx of big toe", "hallucal duplication", "partial / complete duplication of the phalanx of the hallux", "partial / complete duplication of the phalanges of the hallux" ], "HP:0005785": [ "duplication of phalanx of hallux", "duplicate hallux", "duplicated hallux", "duplication of big toe bone", "duplication of great toe", "duplication of great toes", "duplication of phalanx of big toe", "hallucal duplication", "partial / complete duplication of the phalanx of the hallux", "partial / complete duplication of the phalanges of the hallux" ], "HP:0005851": [ "duplication of phalanx of hallux", "duplicate hallux", "duplicated hallux", "duplication of big toe bone", "duplication of great toe", "duplication of great toes", "duplication of phalanx of big toe", "hallucal duplication", "partial / complete duplication of the phalanx of the hallux", "partial / complete duplication of the phalanges of the hallux" ], "HP:0010067": [ "aplasia / hypoplasia of the 1st metatarsal", "absent / small 1st long bone of foot", "absent / underdevelop 1st long bone of foot", "absent / underdeveloped 1st long bone of foot" ], "HP:0010068": [ "broad first metatarsal", "broad 1st metatarsal", "enlarge first metatarsal", "enlarged first metatarsal", "wide 1st long bone of foot" ], "HP:0004709": [ "broad first metatarsal", "broad 1st metatarsal", "enlarge first metatarsal", "enlarged first metatarsal", "wide 1st long bone of foot" ], "HP:0008085": [ "broad first metatarsal", "broad 1st metatarsal", "enlarge first metatarsal", "enlarged first metatarsal", "wide 1st long bone of foot" ], "HP:0008139": [ "broad first metatarsal", "broad 1st metatarsal", "enlarge first metatarsal", "enlarged first metatarsal", "wide 1st long bone of foot" ], "HP:0010069": [ "bullet - shape 1st metatarsal", "bullet - shaped 1st metatarsal", "bullet - shape 1st long bone of foot", "bullet - shaped 1st long bone of foot" ], "HP:0010070": [ "curve 1st metatarsal", "curved 1st metatarsal", "curve 1st long bone of foot", "curved 1st long bone of foot" ], "HP:0010071": [ "osteolytic defect of the 1st metatarsal", "osteolytic defects of the 1st metatarsal" ], "HP:0010072": [ "patchy sclerosis of the 1st metatarsal", "uneven increase in bone density of the 1st long bone of foot" ], "HP:0010073": [ "synostosis involve the 1st metatarsal", "synostosis involving the 1st metatarsal", "fusion involve the 1st long bone of foot", "fusion involving the 1st long bone of foot" ], "HP:0010074": [ "triangular shape 1st metatarsal", "triangular shaped 1st metatarsal", "triangular shape 1st long bone of foot", "triangular shaped 1st long bone of foot" ], "HP:0010075": [ "duplication of the 1st metatarsal", "duplicate 1st long bone of foot", "duplicated 1st long bone of foot", "duplicate first metatarsal", "duplicated first metatarsals" ], "HP:0010076": [ "aplasia / hypoplasia of the distal phalanx of the hallux", "absent / small outermost big toe bone", "absent / underdevelop outermost big toe bone", "absent / underdeveloped outermost big toe bone" ], "HP:0010077": [ "broad distal phalanx of the hallux", "broad outermost bone of big toe", "wide outermost bone of big toe" ], "HP:0010078": [ "bullet - shaped distal phalanx of the hallux", "bullet - shape outermost bone of big toe", "bullet - shaped outermost bone of big toe" ], "HP:0010079": [ "curve distal phalanx of the hallux", "curved distal phalanx of the hallux", "curve outermost bone of big toe", "curved outermost bone of big toe" ], "HP:0010080": [ "osteolytic defect of the distal phalanx of the hallux", "osteolytic defects of the distal phalanx of the hallux" ], "HP:0010081": [ "patchy sclerosis of the distal phalanx of the hallux", "uneven increase in bone density in the outermost bone of big toe" ], "HP:0010082": [ "symphalangism affect the distal phalanx of the hallux", "symphalangism affecting the distal phalanx of the hallux", "fuse outermost bone of big toe", "fused outermost bone of big toe" ], "HP:0010083": [ "triangular shape distal phalanx of the hallux", "triangular shaped distal phalanx of the hallux", "triangular shape outermost bone of the big toe", "triangular shaped outermost bone of the big toe" ], "HP:0010084": [ "duplication of the distal phalanx of the hallux", "duplication of the outermost bone of big toe", "partial / complete duplication of the distal phalanx of the hallux" ], "HP:0010085": [ "aplasia / hypoplasia of the proximal phalanx of the hallux", "absent / small innermost big toe bone", "absent / underdevelop innermost big toe bone", "absent / underdeveloped innermost big toe bone" ], "HP:0010086": [ "broad proximal phalanx of the hallux", "broad innermost bone of the big toe", "broad proximal phalanx of the big toe" ], "HP:0010087": [ "bullet - shape proximal phalanx of the hallux", "bullet - shaped proximal phalanx of the hallux", "bullet - shape innermost bone of the big toe", "bullet - shaped innermost bone of the big toe" ], "HP:0010088": [ "curve proximal phalanx of the hallux", "curved proximal phalanx of the hallux", "curve innermost bone of the big toe", "curved innermost bone of the big toe" ], "HP:0010089": [ "osteolytic defect of the proximal phalanx of the hallux", "osteolytic defects of the proximal phalanx of the hallux" ], "HP:0010090": [ "patchy sclerosis of the proximal phalanx of the hallux", "uneven increase in bone density in the innermost bone of the big toe" ], "HP:0010091": [ "symphalangism affect the proximal phalanx of the hallux", "symphalangism affecting the proximal phalanx of the hallux", "fuse innermost bone of big toe", "fused innermost bone of big toe" ], "HP:0010092": [ "triangular shape proximal phalanx of the hallux", "triangular shaped proximal phalanx of the hallux", "triangular shape innermost bone of big toe", "triangular shaped innermost bone of big toe" ], "HP:0010093": [ "duplication of the proximal phalanx of the hallux", "duplication of the innermost bone of big toe" ], "HP:0010094": [ "complete duplication of the proximal phalanx of the hallux", "complete duplication of the innermost bone of big toe" ], "HP:0010095": [ "partial duplication of the proximal phalanx of the hallux", "partial duplication of the innermost bone of big toe" ], "HP:0010096": [ "complete duplication of the distal phalanx of the hallux", "complete duplication of the outermost bone of the big toe" ], "HP:0010097": [ "partial duplication of the distal phalanx of the hallux", "bifid distal phalanx of hallux", "notch outermost bone of big toe", "notched outermost bone of big toe", "partial duplication of the outermost bone of big toe" ], "HP:0008091": [ "partial duplication of the distal phalanx of the hallux", "bifid distal phalanx of hallux", "notch outermost bone of big toe", "notched outermost bone of big toe", "partial duplication of the outermost bone of big toe" ], "HP:0010098": [ "complete duplication of the 1st metatarsal", "complete duplication of the 1st long bone of foot" ], "HP:0008121": [ "complete duplication of the 1st metatarsal", "complete duplication of the 1st long bone of foot" ], "HP:0010099": [ "partial duplication of the 1st metatarsal", "partial duplication of the 1st long bone of foot" ], "HP:0010100": [ "complete duplication of hallux phalanx", "complete duplication of big toe bone", "complete duplication of big toe bones", "complete duplication of the phalanx of the hallux", "complete duplication of the phalanges of the hallux" ], "HP:0010101": [ "partial duplication of the phalanx of the hallux", "partial duplication of the phalanges of the hallux", "partial duplication of big toe", "partial duplication of hallux" ], "HP:0004678": [ "partial duplication of the phalanx of the hallux", "partial duplication of the phalanges of the hallux", "partial duplication of big toe", "partial duplication of hallux" ], "HP:0010102": [ "aplasia of the distal phalanx of the hallux", "absent outermost bone of big toe" ], "HP:0010103": [ "short distal phalanx of hallux", "hypoplastic / small distal phalanx of the hallux", "small distal phalanx of big toe", "small distal phalanx of hallux", "small outermost bone of big toe" ], "HP:0010104": [ "absent first metatarsal", "absent 1st long bone of foot", "absent 1st metatarsal", "aplasia of the 1st metatarsal" ], "HP:0006124": [ "absent first metatarsal", "absent 1st long bone of foot", "absent 1st metatarsal", "aplasia of the 1st metatarsal" ], "HP:0010105": [ "short first metatarsal", "first metatarsal hypoplasia", "first metatarsal hypoplastic", "first metatarsals hypoplastic", "short 1st long bone of foot" ], "HP:0004680": [ "short first metatarsal", "first metatarsal hypoplasia", "first metatarsal hypoplastic", "first metatarsals hypoplastic", "short 1st long bone of foot" ], "HP:0010106": [ "aplasia of the proximal phalanx of the hallux", "absent innermost bone of big toe" ], "HP:0010107": [ "short proximal phalanx of hallux", "hypoplastic proximal phalanx of the hallux", "short innermost big toe bone", "short proximal phalanges of halluces", "short proximal phalanx of halluces", "small proximal phalanx of big toe", "small proximal phalanx of hallux" ], "HP:0008101": [ "short proximal phalanx of hallux", "hypoplastic proximal phalanx of the hallux", "short innermost big toe bone", "short proximal phalanges of halluces", "short proximal phalanx of halluces", "small proximal phalanx of big toe", "small proximal phalanx of hallux" ], "HP:0008129": [ "short proximal phalanx of hallux", "hypoplastic proximal phalanx of the hallux", "short innermost big toe bone", "short proximal phalanges of halluces", "short proximal phalanx of halluces", "small proximal phalanx of big toe", "small proximal phalanx of hallux" ], "HP:0010109": [ "short hallux", "hypoplastic big toe", "hypoplastic big toes", "hypoplastic hallux", "short big toe", "short halluces", "small hallux" ], "HP:0001843": [ "short hallux", "hypoplastic big toe", "hypoplastic big toes", "hypoplastic hallux", "short big toe", "short halluces", "small hallux" ], "HP:0001861": [ "short hallux", "hypoplastic big toe", "hypoplastic big toes", "hypoplastic hallux", "short big toe", "short halluces", "small hallux" ], "HP:0005610": [ "short hallux", "hypoplastic big toe", "hypoplastic big toes", "hypoplastic hallux", "short big toe", "short halluces", "small hallux" ], "HP:0008105": [ "short hallux", "hypoplastic big toe", "hypoplastic big toes", "hypoplastic hallux", "short big toe", "short halluces", "small hallux" ], "HP:0010110": [ "aplasia of the phalanx of the hallux", "aplasia of the phalanges of the hallux", "absent bone of big toe" ], "HP:0010111": [ "short phalanx of hallux", "hypoplastic phalanx of the hallux", "hypoplastic phalanges of the hallux", "short bone of big toe" ], "HP:0010112": [ "mesoaxial foot polydactyly", "central polydactyly of foot", "central polydactyly of feet" ], "HP:0010113": [ "absent hallux epiphysis", "absent end part of big toe bone", "absent epiphysis of the hallux", "absent epiphyses of the hallux" ], "HP:0010114": [ "bracket epiphysis of the hallux", "bracket epiphyses of the hallux", "bracket shape end part of big toe bone", "bracket shaped end part of big toe bone" ], "HP:0010115": [ "cone - shaped epiphysis of the hallux", "cone - shaped epiphyses of the hallux", "cone - shaped end part of the big toe bone" ], "HP:0010116": [ "enlarged epiphysis of the hallux", "enlarged epiphyses of the hallux", "enlarged end part of the big toe bone" ], "HP:0010117": [ "fragmentation of the epiphysis of the hallux", "fragmentation of the epiphyses of the hallux", "fragmentation of the end part of the big toe bone" ], "HP:0010118": [ "irregular epiphysis of the hallux", "irregular epiphyses of the hallux", "irregular end part of big toe bone" ], "HP:0010119": [ "ivory epiphysis of the hallux", "ivory epiphyses of the hallux", "increase bone density of end part of the big toe bone", "increased bone density of end part of the big toe bone" ], "HP:0010120": [ "pseudoepiphyses of the hallux" ], "HP:0010121": [ "small epiphysis of the hallux", "small epiphyses of the hallux", "small end part of the big toe bone" ], "HP:0010122": [ "stippling of the epiphysis of the hallux", "stippling of the epiphyses of the hallux", "speckled calcification in the end part of the big toe bone", "speckled calcifications in the end part of the big toe bone" ], "HP:0010123": [ "triangular epiphysis of the hallux", "triangular epiphyses of the hallux", "triangular end part of the big toe bone" ], "HP:0010124": [ "abnormality of the epiphysis of the distal phalanx of the hallux", "abnormality of the end part of the outermost bone of the big toe bone" ], "HP:0010125": [ "abnormality of the epiphysis of the 1st metatarsal", "abnormality of the end part of the 1st long bone of foot" ], "HP:0010126": [ "abnormality of the epiphysis of the proximal phalanx of the hallux", "abnormality of the end part of the innermost bone of the big toe" ], "HP:0010127": [ "absent epiphysis of the proximal phalanx of the hallux", "absent end part of the innermost bone of the big toe" ], "HP:0010128": [ "bracket epiphysis of the proximal phalanx of the hallux", "bracket shape end part of the innermost bone of big toe", "bracket shaped end part of the innermost bone of big toe" ], "HP:0010129": [ "cone - shaped epiphysis of the proximal phalanx of the hallux", "cone - shaped end part of the innermost bone of the big toe" ], "HP:0010130": [ "enlarged epiphysis of the proximal phalanx of the hallux", "enlarged end part of the innermost bone of the big toe" ], "HP:0010131": [ "fragmentation of the epiphysis of the proximal phalanx of the hallux", "fragmentation of the end part of the innermost bone of the big toe" ], "HP:0010132": [ "irregular epiphysis of the proximal phalanx of the hallux", "irregular end part of the innermost bone of the big toe" ], "HP:0010133": [ "ivory epiphysis of the proximal phalanx of the hallux", "increase bone density of end part of the innermost bone of the big toe", "increased bone density of end part of the innermost bone of the big toe" ], "HP:0010134": [ "pseudoepiphysis of the proximal phalanx of the hallux" ], "HP:0010135": [ "small epiphysis of the proximal phalanx of the hallux", "small end part of the innermost bone of the big toe" ], "HP:0010136": [ "stippling of the epiphysis of the proximal phalanx of the hallux", "speckled calcification in the end part of the innermost bone of the big toe", "speckled calcifications in the end part of the innermost bone of the big toe" ], "HP:0010137": [ "triangular epiphysis of the proximal phalanx of the hallux", "triangular end part of the innermost bone of the big toe" ], "HP:0010138": [ "absent epiphysis of the distal phalanx of the hallux", "absent end part of the outermost bone of the big toe" ], "HP:0010139": [ "bracket epiphysis of the distal phalanx of the hallux", "bracket shape end part of the outermost bone of big toe", "bracket shaped end part of the outermost bone of big toe" ], "HP:0010140": [ "cone - shaped epiphysis of the distal phalanx of the hallux", "cone - shaped end part of the outermost bone of the big toe" ], "HP:0010141": [ "enlarged epiphysis of the distal phalanx of the hallux", "enlarged end part of the outermost bone of the big toe" ], "HP:0010142": [ "fragmentation of the epiphysis of the distal phalanx of the hallux", "fragmentation of the end part of the outermost bone of the big toe" ], "HP:0010143": [ "irregular epiphysis of the distal phalanx of the hallux", "irregular end part of the outermost bone of the big toe" ], "HP:0010144": [ "ivory epiphysis of the distal phalanx of the hallux", "increase bone density of end part of the outermost bone of the big toe", "increased bone density of end part of the outermost bone of the big toe" ], "HP:0010145": [ "pseudoepiphysis of the distal phalanx of the hallux" ], "HP:0010146": [ "small epiphysis of the distal phalanx of the hallux", "small end part of the outermost bone of the big toe" ], "HP:0010147": [ "stippling of the epiphysis of the distal phalanx of the hallux", "speckled calcification in the end part of the outermost bone of the big toe", "speckled calcifications in the end part of the outermost bone of the big toe" ], "HP:0010148": [ "triangular epiphysis of the distal phalanx of the hallux", "triangular end part of the outermost bone of the big toe" ], "HP:0010149": [ "absent epiphysis of the 1st metatarsal", "absent end part of the 1st long bone of foot" ], "HP:0010150": [ "bracket epiphysis of the 1st metatarsal", "bracket shape end part of 1st long bone of foot", "bracket shaped end part of 1st long bone of foot" ], "HP:0010151": [ "cone - shaped epiphysis of the 1st metatarsal", "cone - shaped end part of the 1st long bone of foot" ], "HP:0010152": [ "enlarged epiphysis of the 1st metatarsal", "enlarged end part of the 1st long bone of foot" ], "HP:0010153": [ "fragmentation of the epiphysis of the 1st metatarsal", "fragmentation of the end part of the 1st long bone of foot" ], "HP:0010154": [ "irregular epiphysis of the 1st metatarsal", "irregular end part of the 1st long bone of foot" ], "HP:0010155": [ "ivory epiphysis of the 1st metatarsal", "increase bone density of end part of the 1st long bone of foot", "increased bone density of end part of the 1st long bone of foot" ], "HP:0010156": [ "pseudoepiphysis of the 1st metatarsal" ], "HP:0010157": [ "small epiphysis of the 1st metatarsal", "small end part of the 1st long bone of foot" ], "HP:0010158": [ "stippling of the epiphysis of the 1st metatarsal", "speckled calcification in the end part of the 1st long bone of foot", "speckled calcifications in the end part of the 1st long bone of foot" ], "HP:0010159": [ "triangular epiphysis of the 1st metatarsal", "triangular end part of the 1st long bone of foot" ], "HP:0010160": [ "abnormality of the epiphysis of the toe", "abnormality of the epiphyses of the toes", "abnormality of the end part of the toe bone", "abnormality of the end part of the toe bones" ], "HP:0010161": [ "abnormality of the phalanx of the toe", "abnormality of the phalanges of the toes", "abnormality of the long bone of the toe", "abnormality of the long bones of the toes" ], "HP:0010162": [ "absent epiphysis of the toe", "absent epiphyses of the toes", "absent end part of the toe bone", "absent end part of the toe bones" ], "HP:0010163": [ "bracket epiphysis of the toe", "bracket epiphyses of the toes", "bracket shape end part of the toe bone", "bracket shaped end part of the toe bones" ], "HP:0010164": [ "cone - shaped epiphysis of the toe", "cone - shaped epiphyses of the toes", "cone - shaped end part of the toe bone", "cone - shaped end part of the toe bones" ], "HP:0010165": [ "enlarged epiphysis of the toe", "enlarged epiphyses of the toes", "enlarged end part of the toe bone", "enlarged end part of the toe bones" ], "HP:0010166": [ "fragmentation of the epiphysis of the toe", "fragmentation of the epiphyses of the toes", "fragmentation of the end part of the toe bone", "fragmentation of the end part of the toe bones" ], "HP:0010167": [ "irregular epiphysis of the toe", "irregular epiphyses of the toes", "irregular end part of the toe bone", "irregular end part of the toe bones" ], "HP:0010168": [ "ivory epiphysis of the toe", "ivory epiphyses of the toes", "increase bone density of end part of the toe", "increased bone density of end part of the toes" ], "HP:0010169": [ "pseudoepiphyses of the toe", "pseudoepiphyses of the toes" ], "HP:0010170": [ "small epiphysis of the toe", "small epiphyses of the toes", "small end part of the toe bone", "small end part of the toe bones" ], "HP:0010171": [ "epiphyseal stippling of toe phalanx", "epiphyseal stippling of toe phalanges", "speckled calcification in long toe bone", "speckled calcifications in long toe bones", "stippling of the epiphysis of the toe", "stippling of the epiphyses of the toes" ], "HP:0010172": [ "triangular epiphysis of the toe", "triangular epiphyses of the toes", "triangular end part of the toe bone", "triangular end part of the toe bones" ], "HP:0010173": [ "aplasia / hypoplasia of the phalanx of the toe", "aplasia / hypoplasia of the phalanges of the toes", "absent / small toe bone", "absent / small toe bones", "absent / underdevelop toe bone", "absent / underdeveloped toe bones" ], "HP:0010174": [ "broad phalanx of the toe", "broad phalanx of the toes", "wide toe bone", "wide toe bones" ], "HP:0010175": [ "bullet - shape toe phalanx", "bullet - shaped toe phalanx", "bullet - shaped phalanx of the toe", "bullet - shaped phalanges of the toes", "bullet - shape toe bone", "bullet - shaped toe bone" ], "HP:0010176": [ "curve toe phalanx", "curved toe phalanx", "curve phalanx of the toe", "curved phalanges of the toes", "curve toe bone", "curved toe bone" ], "HP:0010177": [ "osteolytic defect of the phalanx of the toe", "osteolytic defects of the phalanges of the toes" ], "HP:0010178": [ "patchy sclerosis of toe phalanx", "patchy sclerosis of the phalanx of the toe", "patchy sclerosis of the phalanges of the toes", "uneven increase in bone density in toe bone" ], "HP:0010179": [ "symphalangism affect the phalanx of the toe", "symphalangism affecting the phalanges of the toes", "fuse toe bone", "fused toe bones" ], "HP:0010180": [ "triangular shape phalanx of the toe", "triangular shaped phalanges of the toes", "triangular shape toe bone", "triangular shaped toe bones" ], "HP:0010181": [ "duplication of phalanx of toe", "duplicate toe bone", "duplicated toe bone", "partial / complete duplication of the phalanx of the toe", "partial / complete duplication of the phalanges of the toes" ], "HP:0010182": [ "abnormality of the distal phalanx of the toe", "abnormality of the distal phalanges of the toes", "abnormality of the outermost bone of the toe", "abnormality of the outermost bone of the toes" ], "HP:0010183": [ "abnormality of the middle phalanx of the toe", "abnormality of the middle phalanges of the toes", "abnormal middle bone of toe", "abnormal middle bones of toe" ], "HP:0010184": [ "abnormality of toe proximal phalanx", "abnormal innermost toe bone", "abnormality of the proximal phalanx of the toe", "abnormality of the proximal phalanges of the toes" ], "HP:0010185": [ "aplasia / hypoplasia of the distal phalanx of the toe", "aplasia / hypoplasia of the distal phalanges of the toes", "absent / hypoplastic terminal phalanx of toe", "absent / hypoplastic terminal phalanges of toes", "absent / small outermost bone of toe", "absent / small outermost bones of toe", "absent / underdevelop outermost bone of toe", "absent / underdeveloped outermost bones of toe", "hypoplasia / agenesis of distal phalanx of toe", "hypoplasia / agenesis of distal phalanges of toes" ], "HP:0005735": [ "aplasia / hypoplasia of the distal phalanx of the toe", "aplasia / hypoplasia of the distal phalanges of the toes", "absent / hypoplastic terminal phalanx of toe", "absent / hypoplastic terminal phalanges of toes", "absent / small outermost bone of toe", "absent / small outermost bones of toe", "absent / underdevelop outermost bone of toe", "absent / underdeveloped outermost bones of toe", "hypoplasia / agenesis of distal phalanx of toe", "hypoplasia / agenesis of distal phalanges of toes" ], "HP:0005818": [ "aplasia / hypoplasia of the distal phalanx of the toe", "aplasia / hypoplasia of the distal phalanges of the toes", "absent / hypoplastic terminal phalanx of toe", "absent / hypoplastic terminal phalanges of toes", "absent / small outermost bone of toe", "absent / small outermost bones of toe", "absent / underdevelop outermost bone of toe", "absent / underdeveloped outermost bones of toe", "hypoplasia / agenesis of distal phalanx of toe", "hypoplasia / agenesis of distal phalanges of toes" ], "HP:0010186": [ "broad distal phalanx of the toe", "broad distal phalanx of the toes", "broad outermost bone of the toe", "wide outermost bone of the toe" ], "HP:0010187": [ "bullet - shaped distal toe phalanx", "bullet - shaped distal phalanx of the toe", "bullet - shaped distal phalanges of the toes", "bullet - shape outermost bone of the toe", "bullet - shaped outermost bone of the toe" ], "HP:0010188": [ "curve distal toe phalanx", "curved distal toe phalanx", "curve distal phalanx of the toe", "curved distal phalanges of the toes", "curve outermost bone of the toe", "curved outermost bone of the toe" ], "HP:0010189": [ "osteolytic defect of the distal phalanx of the toe", "osteolytic defects of the distal phalanges of the toes" ], "HP:0010190": [ "patchy sclerosis of distal toe phalanx", "patchy sclerosis of the distal phalanx of the toe", "patchy sclerosis of the distal phalanges of the toes", "uneven increase in bone density in outermost toe bone" ], "HP:0010191": [ "symphalangism affect the distal phalanx of the toe", "symphalangism affecting the distal phalanges of the toes", "fuse outermost bone of toe", "fused outermost bones of toes" ], "HP:0010192": [ "triangular shape distal phalanx of the toe", "triangular shaped distal phalanges of the toes", "triangular shape outermost bone of the toe", "triangular shaped outermost bone of the toes" ], "HP:0010193": [ "duplication of distal phalanx of toe", "duplication of outermost bone of toe", "partial / complete duplication of the distal phalanx of the toe", "partial / complete duplication of the distal phalanges of the toes" ], "HP:0010194": [ "aplasia / hypoplasia of the middle phalanx of the toe", "aplasia / hypoplasia of the middle phalanges of the toes", "absent / small middle bone of toe", "absent / small middle bones of toe", "absent / underdevelop middle bone of toe", "absent / underdeveloped middle bones of toe" ], "HP:0010195": [ "broad middle phalanx of the toe", "broad middle phalanges of the toes", "broad middle bone of the toe", "broad middle bones of the toes" ], "HP:0010196": [ "bullet - shape middle toe phalanx", "bullet - shaped middle toe phalanx", "bullet - shape middle bone of the toe", "bullet - shaped middle bones of the toes", "bullet - shape middle phalanx of the toe", "bullet - shaped middle phalanges of the toes" ], "HP:0010197": [ "curve middle toe phalanx", "curved middle toe phalanx", "curve middle bone of the toe", "curved middle bones of the toes", "curve middle phalanx of the toe", "curved middle phalanges of the toes" ], "HP:0010198": [ "osteolytic defect of the middle phalanx of the toe", "osteolytic defects of the middle phalanges of the toes" ], "HP:0010199": [ "patchy sclerosis of middle toe phalanx", "patchy sclerosis of the middle phalanx of the toe", "patchy sclerosis of the middle phalanges of the toes", "uneven increase in bone density in middle toe bone" ], "HP:0010200": [ "symphalangism affect the middle phalanx of the toe", "symphalangism affecting the middle phalanges of the toes", "fuse middle bone of toe", "fused middle bones of toes" ], "HP:0010201": [ "triangular shape middle phalanx of the toe", "triangular shaped middle phalanges of the toes", "triangular shape middle bone of toe", "triangular shaped middle bones of toes" ], "HP:0010202": [ "duplication of middle phalanx of toe", "partial / complete duplication of the middle bone of the toe", "partial / complete duplication of the middle bones of the toes", "partial / complete duplication of the middle phalanx of the toe", "partial / complete duplication of the middle phalanges of the toes" ], "HP:0010203": [ "aplasia / hypoplasia of proximal toe phalanx", "absent / small innermost toe bone", "absent / small innermost toe bones", "absent / underdevelop innermost toe bone", "absent / underdeveloped innermost toe bones", "aplasia / hypoplasia of the proximal phalanx of the toe", "aplasia / hypoplasia of the proximal phalanges of the toes" ], "HP:0010204": [ "broad proximal phalanx of toe", "broad innermost toe bone" ], "HP:0010205": [ "bullet - shape proximal toe phalanx", "bullet - shaped proximal toe phalanx", "bullet - shape innermost toe bone", "bullet - shaped innermost toe bone", "bullet - shape proximal phalanx of the toe", "bullet - shaped proximal phalanges of the toes", "bullet - shape proximal phalanx of toe", "bullet - shaped proximal phalanges of toe" ], "HP:0010206": [ "curve proximal toe phalanx", "curved proximal toe phalanx", "curve innermost toe bone", "curved innermost toe bones", "curve proximal phalanx of the toe", "curved proximal phalanges of the toes" ], "HP:0010207": [ "osteolytic defect of the proximal toe phalanx", "osteolytic defect of the proximal phalanx of the toe", "osteolytic defects of the proximal phalanges of the toes" ], "HP:0010208": [ "patchy sclerosis of proximal toe phalanx", "patchy sclerosis of the proximal phalanx of the toe", "patchy sclerosis of the proximal phalanges of the toes", "uneven increase in bone density in innermost toe bone" ], "HP:0010209": [ "symphalangism affect the proximal phalanx of the toe", "symphalangism affecting the proximal phalanges of the toes", "fuse innermost bone of toe", "fused innermost bones of toes" ], "HP:0010210": [ "triangular shape proximal phalanx of the toe", "triangular shaped proximal phalanges of the toes", "triangular shape innermost toe bone", "triangular shaped innermost toe bones" ], "HP:0010211": [ "duplication of proximal phalanx of toe", "duplication of innermost toe bone", "duplication of innermost toe bones", "partial / complete duplication of the proximal phalanx of the toe", "partial / complete duplication of the proximal phalanges of the toes" ], "HP:0010212": [ "flexion contracture of the hallux", "joint contracture of the big toe", "joint contracture of the hallux" ], "HP:0010213": [ "contracture of the tarsometatarsal joint of the hallux" ], "HP:0010214": [ "contracture of the interphalangeal joint of the hallux" ], "HP:0010215": [ "contracture of the metatarsophalangeal joint of the hallux", "contractures of the metatarsophalangeal joint of the hallux" ], "HP:0010219": [ "structural foot deformity" ], "HP:0010220": [ "abnormality of the epiphysis of the 2nd metacarpal", "abnormality of the end part of the 2nd long bone of hand" ], "HP:0010222": [ "abnormality of the epiphysis of the 3rd metacarpal", "abnormality of the end part of the 3rd long bone of hand" ], "HP:0010223": [ "pseudoepiphysis of the 3rd metacarpal" ], "HP:0010224": [ "abnormality of the epiphysis of the 4th metacarpal", "abnormality of the end part of the 4th long bone of hand" ], "HP:0010225": [ "pseudoepiphysis of the 4th metacarpal" ], "HP:0010226": [ "abnormality of the epiphysis of the 5th metacarpal", "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 pinky finger" ], "HP:0010227": [ "pseudoepiphysis of the 5th metacarpal" ], "HP:0010228": [ "absent epiphysis of the phalanx of the hand", "absent epiphyses of the phalanges of the hand", "absent end part of finger", "absent end part of fingers", "absent epiphysis of the finger", "absent epiphyses of the fingers" ], "HP:0009359": [ "absent epiphysis of the phalanx of the hand", "absent epiphyses of the phalanges of the hand", "absent end part of finger", "absent end part of fingers", "absent epiphysis of the finger", "absent epiphyses of the fingers" ], "HP:0010229": [ "bracket epiphysis of the phalanx of the hand", "bracket epiphyses of the phalanges of the hand", "bracket epiphysis of the finger", "bracket epiphyses of the fingers", "bracket shape end part of finger bone", "bracket shaped end part of finger bones" ], "HP:0009360": [ "bracket epiphysis of the phalanx of the hand", "bracket epiphyses of the phalanges of the hand", "bracket epiphysis of the finger", "bracket epiphyses of the fingers", "bracket shape end part of finger bone", "bracket shaped end part of finger bones" ], "HP:0010230": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0001175": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0001207": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0001242": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0003766": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0005803": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0009361": [ "cone - shaped epiphysis of the phalanx of the hand", "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped end part of finger bone", "cone - shaped end part of finger bones", "cone - shaped epiphysis of hand", "cone - shaped epiphyses of hand", "cone - shaped epiphysis of phalanx", "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of the finger", "cone - shaped epiphyses of the fingers", "cone - shaped phalangeal epiphysis", "cone - shaped phalangeal epiphyses", "con epiphysis", "coned epiphyses", "coned epiphysis of hand", "coned epiphyses of hands", "conical phalangeal epiphysis", "conical phalangeal epiphyses", "phalangeal cone - shaped epiphysis", "phalangeal cone - shaped epiphyses" ], "HP:0010231": [ "enlarged epiphysis of the phalanx of the hand", "enlarged epiphyses of the phalanges of the hand", "enlarged end part of finger bone", "enlarged end part of finger bones", "enlarged epiphysis of the finger", "enlarged epiphyses of the fingers", "enlarge phalangeal epiphysis", "enlarged phalangeal epiphyses" ], "HP:0006023": [ "enlarged epiphysis of the phalanx of the hand", "enlarged epiphyses of the phalanges of the hand", "enlarged end part of finger bone", "enlarged end part of finger bones", "enlarged epiphysis of the finger", "enlarged epiphyses of the fingers", "enlarge phalangeal epiphysis", "enlarged phalangeal epiphyses" ], "HP:0009362": [ "enlarged epiphysis of the phalanx of the hand", "enlarged epiphyses of the phalanges of the hand", "enlarged end part of finger bone", "enlarged end part of finger bones", "enlarged epiphysis of the finger", "enlarged epiphyses of the fingers", "enlarge phalangeal epiphysis", "enlarged phalangeal epiphyses" ], "HP:0010232": [ "fragmentation of the epiphysis of the phalanx of the hand", "fragmentation of the epiphyses of the phalanges of the hand", "fragmentation of end part of finger bone", "fragmentation of end part of finger bones", "fragmentation of the epiphysis of the finger", "fragmentation of the epiphyses of the fingers" ], "HP:0009363": [ "fragmentation of the epiphysis of the phalanx of the hand", "fragmentation of the epiphyses of the phalanges of the hand", "fragmentation of end part of finger bone", "fragmentation of end part of finger bones", "fragmentation of the epiphysis of the finger", "fragmentation of the epiphyses of the fingers" ], "HP:0010233": [ "irregular epiphysis of the phalanx of the hand", "irregular epiphyses of the phalanges of the hand", "irregular end part of finger bone", "irregular end part of finger bones", "irregular epiphysis of the finger", "irregular epiphyses of the fingers" ], "HP:0009364": [ "irregular epiphysis of the phalanx of the hand", "irregular epiphyses of the phalanges of the hand", "irregular end part of finger bone", "irregular end part of finger bones", "irregular epiphysis of the finger", "irregular epiphyses of the fingers" ], "HP:0010234": [ "ivory epiphysis of the phalanx of the hand", "ivory epiphyses of the phalanges of the hand", "increase bone density of end part of the hand bone", "increased bone density of end part of the hand bones", "ivory epiphysis of the finger", "ivory epiphyses of the fingers", "sclerotic ivory phalangeal epiphysis", "sclerotic ivory phalangeal epiphyses" ], "HP:0001210": [ "ivory epiphysis of the phalanx of the hand", "ivory epiphyses of the phalanges of the hand", "increase bone density of end part of the hand bone", "increased bone density of end part of the hand bones", "ivory epiphysis of the finger", "ivory epiphyses of the fingers", "sclerotic ivory phalangeal epiphysis", "sclerotic ivory phalangeal epiphyses" ], "HP:0009365": [ "ivory epiphysis of the phalanx of the hand", "ivory epiphyses of the phalanges of the hand", "increase bone density of end part of the hand bone", "increased bone density of end part of the hand bones", "ivory epiphysis of the finger", "ivory epiphyses of the fingers", "sclerotic ivory phalangeal epiphysis", "sclerotic ivory phalangeal epiphyses" ], "HP:0010235": [ "pseudoepiphyses of the phalanx of the hand", "pseudoepiphyses of the phalanges of the hand", "pseudoepiphysis of the finger", "pseudoepiphysis of the fingers" ], "HP:0009366": [ "pseudoepiphyses of the phalanx of the hand", "pseudoepiphyses of the phalanges of the hand", "pseudoepiphysis of the finger", "pseudoepiphysis of the fingers" ], "HP:0010236": [ "small epiphysis of the phalanx of the hand", "small epiphyses of the phalanges of the hand", "small end part of finger bone", "small end part of finger bones", "small epiphysis of the finger", "small epiphyses of the fingers" ], "HP:0009367": [ "small epiphysis of the phalanx of the hand", "small epiphyses of the phalanges of the hand", "small end part of finger bone", "small end part of finger bones", "small epiphysis of the finger", "small epiphyses of the fingers" ], "HP:0010237": [ "epiphyseal stippling of finger phalanx", "epiphyseal stippling of finger phalanges", "speckled calcification in end part of finger bone", "speckled calcifications in end part of finger bones", "stippling of the epiphysis of the finger", "stippling of the epiphyses of the fingers", "stippling of the epiphysis of the phalanx of the hand", "stippling of the epiphyses of the phalanges of the hand" ], "HP:0009368": [ "epiphyseal stippling of finger phalanx", "epiphyseal stippling of finger phalanges", "speckled calcification in end part of finger bone", "speckled calcifications in end part of finger bones", "stippling of the epiphysis of the finger", "stippling of the epiphyses of the fingers", "stippling of the epiphysis of the phalanx of the hand", "stippling of the epiphyses of the phalanges of the hand" ], "HP:0010238": [ "triangular epiphysis of the phalanx of the hand", "triangular epiphyses of the phalanges of the hand", "delta - shaped epiphysis of the finger", "delta - shaped epiphyses of the fingers", "triangular end part of finger bone", "triangular end part of finger bones", "triangular epiphysis of the finger", "triangular epiphyses of the fingers" ], "HP:0009369": [ "triangular epiphysis of the phalanx of the hand", "triangular epiphyses of the phalanges of the hand", "delta - shaped epiphysis of the finger", "delta - shaped epiphyses of the fingers", "triangular end part of finger bone", "triangular end part of finger bones", "triangular epiphysis of the finger", "triangular epiphyses of the fingers" ], "HP:0010239": [ "aplasia of the middle phalanx of the hand", "absent middle bone of hand", "absent middle bones of hand", "absent middle phalanx", "absent middle phalanges", "miss middle phalanx", "missing middle phalanges" ], "HP:0005778": [ "aplasia of the middle phalanx of the hand", "absent middle bone of hand", "absent middle bones of hand", "absent middle phalanx", "absent middle phalanges", "miss middle phalanx", "missing middle phalanges" ], "HP:0010241": [ "short proximal phalanx of finger", "hypoplasia of the proximal phalanx of the hand", "hypoplasia of the proximal phalanges of the hand", "short innermost finger bone", "short innermost finger bones", "short proximal phalanx", "short proximal phalanges", "shorten in proximal phalanx", "shortening in proximal phalanges" ], "HP:0005670": [ "short proximal phalanx of finger", "hypoplasia of the proximal phalanx of the hand", "hypoplasia of the proximal phalanges of the hand", "short innermost finger bone", "short innermost finger bones", "short proximal phalanx", "short proximal phalanges", "shorten in proximal phalanx", "shortening in proximal phalanges" ], "HP:0006138": [ "short proximal phalanx of finger", "hypoplasia of the proximal phalanx of the hand", "hypoplasia of the proximal phalanges of the hand", "short innermost finger bone", "short innermost finger bones", "short proximal phalanx", "short proximal phalanges", "shorten in proximal phalanx", "shortening in proximal phalanges" ], "HP:0010242": [ "aplasia of the proximal phalanx of the hand", "aplasia of the proximal phalanges of the hand", "absent innermost bone", "absent innermost bones", "absent proximal phalanx", "absent proximal phalanges" ], "HP:0006102": [ "aplasia of the proximal phalanx of the hand", "aplasia of the proximal phalanges of the hand", "absent innermost bone", "absent innermost bones", "absent proximal phalanx", "absent proximal phalanges" ], "HP:0010243": [ "abnormality of the epiphysis of the distal phalanx of finger", "abnormality of the epiphyses of the distal phalanx of finger", "abnormality of the end part of the outermost bone of finger" ], "HP:0010244": [ "abnormality of the epiphysis of the middle phalanx of the hand", "abnormality of the epiphyses of the middle phalanges of the hand", "abnormality of the end part of the middle hand bone", "abnormality of the end part of the middle hand bones" ], "HP:0010245": [ "abnormality of the epiphysis of the proximal phalanx of the hand", "abnormality of the epiphyses of the proximal phalanges of the hand", "abnormality of the end part of the innermost hand bone", "abnormality of the end part of the innermost hand bones" ], "HP:0010246": [ "absent epiphysis of the distal phalanx of the hand", "absent epiphyses of the distal phalanges of the hand", "absent end part of the outermost hand bone", "absent end part of the outermost hand bones" ], "HP:0010247": [ "bracket epiphysis of the distal phalanx of the hand", "bracket epiphyses of the distal phalanges of the hand", "bracket shape end part of the outermost hand bone", "bracket shaped end part of the outermost hand bones" ], "HP:0010248": [ "cone - shaped epiphysis of the distal phalanx of the hand", "cone - shaped epiphyses of the distal phalanges of the hand", "cone - shaped end part of the outermost hand bone", "cone - shaped end part of the outermost hand bones" ], "HP:0010249": [ "enlarged epiphysis of the distal phalanx of the hand", "enlarged epiphyses of the distal phalanges of the hand", "enlarged end part of the outermost hand bone", "enlarged end part of the outermost hand bones" ], "HP:0010250": [ "fragmentation of the epiphysis of the distal phalanx of the hand", "fragmentation of the epiphyses of the distal phalanges of the hand", "fragmentation of the end part of the outermost hand bone", "fragmentation of the end part of the outermost hand bones" ], "HP:0010251": [ "irregular epiphysis of the distal phalanx of the hand", "irregular epiphyses of the distal phalanges of the hand", "irregular end part of the outermost hand bone", "irregular end part of the outermost hand bones" ], "HP:0010252": [ "ivory epiphysis of the distal phalanx of the hand", "ivory epiphyses of the distal phalanges of the hand", "eburnated epiphysis of distal phalanx", "eburnated epiphyses of distal phalanges", "increase bone density of end part of the outermost hand bone", "increased bone density of end part of the outermost hand bones" ], "HP:0006105": [ "ivory epiphysis of the distal phalanx of the hand", "ivory epiphyses of the distal phalanges of the hand", "eburnated epiphysis of distal phalanx", "eburnated epiphyses of distal phalanges", "increase bone density of end part of the outermost hand bone", "increased bone density of end part of the outermost hand bones" ], "HP:0010253": [ "pseudoepiphyses of the distal phalanx of the hand", "pseudoepiphyses of the distal phalanges of the hand" ], "HP:0010254": [ "small epiphysis of the distal phalanx of the hand", "small epiphyses of the distal phalanges of the hand", "small end part of the outermost hand bone", "small end part of the outermost hand bones" ], "HP:0010255": [ "stippling of the epiphysis of the distal phalanx of the hand", "stippling of the epiphyses of the distal phalanges of the hand", "speckled calcification in the end part of the outermost hand bone", "speckled calcifications in the end part of the outermost hand bones" ], "HP:0010256": [ "triangular epiphysis of the distal phalanx of the hand", "triangular epiphyses of the distal phalanges of the hand", "triangular end part of the outermost hand bone", "triangular end part of the outermost hand bones" ], "HP:0010257": [ "absent epiphysis of the middle phalanx of the hand", "absent epiphyses of the middle phalanges of the hand", "absent end part of the middle hand bone", "absent end part of the middle hand bones" ], "HP:0010258": [ "bracket epiphysis of the middle phalanx of the hand", "bracket epiphyses of the middle phalanges of the hand", "bracket shape end part of the middle hand bone", "bracket shaped end part of the middle hand bones" ], "HP:0010259": [ "cone - shaped epiphysis of the middle phalanx of the hand", "cone - shaped epiphyses of the middle phalanges of the hand", "cone - shaped end part of the middle hand bone", "cone - shaped end part of the middle hand bones", "cone - shaped epiphysis of middle phalanx", "cone - shaped epiphyses of middle phalanges" ], "HP:0006033": [ "cone - shaped epiphysis of the middle phalanx of the hand", "cone - shaped epiphyses of the middle phalanges of the hand", "cone - shaped end part of the middle hand bone", "cone - shaped end part of the middle hand bones", "cone - shaped epiphysis of middle phalanx", "cone - shaped epiphyses of middle phalanges" ], "HP:0006058": [ "cone - shaped epiphysis of the middle phalanx of the hand", "cone - shaped epiphyses of the middle phalanges of the hand", "cone - shaped end part of the middle hand bone", "cone - shaped end part of the middle hand bones", "cone - shaped epiphysis of middle phalanx", "cone - shaped epiphyses of middle phalanges" ], "HP:0010260": [ "enlarged epiphysis of the middle phalanx of the hand", "enlarged epiphyses of the middle phalanges of the hand", "enlarged end part of the middle hand bone", "enlarged end part of the middle hand bones" ], "HP:0010261": [ "fragmentation of the epiphysis of the middle phalanx of the hand", "fragmentation of the epiphyses of the middle phalanges of the hand", "fragmentation of the end part of the middle hand bone", "fragmentation of the end part of the middle hand bones" ], "HP:0010262": [ "irregular epiphysis of the middle phalanx of the hand", "irregular epiphyses of the middle phalanges of the hand", "irregular end part of middle hand bone", "irregular end part of middle hand bones" ], "HP:0010263": [ "ivory epiphysis of the middle phalanx of the hand", "ivory epiphyses of the middle phalanges of the hand", "increase bone density of end part of the middle hand bone", "increased bone density of end part of the middle hand bones" ], "HP:0010264": [ "pseudoepiphyses of the middle phalanx of the hand", "pseudoepiphyses of the middle phalanges of the hand" ], "HP:0010265": [ "small epiphysis of the middle phalanx of the hand", "small epiphyses of the middle phalanges of the hand", "small end part of the middle hand bone", "small end part of the middle hand bones" ], "HP:0010266": [ "stippling of the epiphysis of the middle phalanx of the hand", "stippling of the epiphyses of the middle phalanges of the hand", "speckled calcification in the end part of the middle hand bone", "speckled calcifications in the end part of the middle hand bones" ], "HP:0010267": [ "triangular epiphysis of the middle phalanx of the hand", "triangular epiphyses of the middle phalanges of the hand", "triangular end part of the middle hand bone", "triangular end part of the middle hand bones" ], "HP:0010268": [ "absent epiphysis of the proximal phalanx of the hand", "absent epiphyses of the proximal phalanges of the hand", "absent end part of the innermost hand bone", "absent end part of the innermost hand bones" ], "HP:0010269": [ "bracket epiphysis of the proximal phalanx of the hand", "bracket epiphyses of the proximal phalanges of the hand", "bracket shape end part of the innermost hand bone", "bracket shaped end part of the innermost hand bones" ], "HP:0010270": [ "cone - shaped epiphysis of the proximal phalanx of the hand", "cone - shaped epiphyses of the proximal phalanges of the hand", "cone - shaped end part of the innermost hand bone", "cone - shaped end part of the innermost hand bones" ], "HP:0010271": [ "enlarged epiphysis of the proximal phalanx of the hand", "enlarged epiphyses of the proximal phalanges of the hand", "enlarged end part of the innermost hand bone", "enlarged end part of the innermost hand bones" ], "HP:0010272": [ "fragmentation of the epiphysis of the proximal phalanx of the hand", "fragmentation of the epiphyses of the proximal phalanges of the hand", "fragmentation of the end part of the innermost hand bone", "fragmentation of the end part of the innermost hand bones" ], "HP:0010273": [ "irregular epiphysis of the proximal phalanx of the hand", "irregular epiphyses of the proximal phalanges of the hand", "irregular end part of the innermost hand bone", "irregular end part of the innermost hand bones" ], "HP:0010274": [ "ivory epiphysis of the proximal phalanx of the hand", "ivory epiphyses of the proximal phalanges of the hand", "increase bone density of end part of the innermost hand bone", "increased bone density of end part of the innermost hand bones" ], "HP:0010275": [ "pseudoepiphyses of the proximal phalanx of the hand", "pseudoepiphyses of the proximal phalanges of the hand" ], "HP:0010276": [ "small epiphysis of the proximal phalanx of the hand", "small epiphyses of the proximal phalanges of the hand", "small end part of the innermost hand bone", "small end part of the innermost hand bones" ], "HP:0010277": [ "stippling of the epiphysis of the proximal phalanx of the hand", "stippling of the epiphyses of the proximal phalanges of the hand", "speckled calcification in the end part of the innermost hand bone", "speckled calcifications in the end part of the innermost hand bones" ], "HP:0010278": [ "triangular epiphysis of the proximal phalanx of the hand", "triangular epiphyses of the proximal phalanges of the hand", "triangular end part of the innermost hand bone", "triangular end part of the innermost hand bones" ], "HP:0010280": [ "stomatitis", "gingivostomatitis", "inflammation of the mouth" ], "HP:0010281": [ "cleft lower lip", "cleft of the low lip", "cleft of the lower lip", "low labial cleft", "lower labial cleft" ], "HP:0010282": [ "thin low lip vermilion", "thin lower lip vermilion", "decreased height of low lip vermilion", "decreased height of lower lip vermilion", "decreased volume of low lip", "decreased volume of lower lip", "decreased volume of low lip vermilion", "decreased volume of lower lip vermilion", "thin low lip", "thin lower lip", "thin red part of the low lip", "thin red part of the lower lip", "thin vermilion border of low lip", "thin vermilion border of lower lip" ], "HP:0010284": [ "intra - oral hyperpigmentation", "dark color of gum", "dark color of gums", "dark colour of gum", "dark colour of gums", "gingival hyperpigmentation", "gingival melanin pigmentation", "hyperpigmentation of oral mucosa", "oral mucosa melanin pigmentation", "oral racial pigmentation", "pigment gum", "pigmented gums" ], "HP:0010285": [ "oral synechia", "oral fibrous band", "oral fibrous bands", "synechiae of the mouth" ], "HP:0010286": [ "abnormal salivary gland morphology", "abnormality of the salivary gland", "abnormality of the salivary glands", "salivary gland disease" ], "HP:0010287": [ "abnormality of the submandibular gland", "abnormality of the submandibular glands", "abnormality of the submaxillary gland", "abnormality of the submaxillary glands" ], "HP:0010288": [ "abnormality of the sublingual gland", "abnormality of the sublingual glands" ], "HP:0010289": [ "cleft of alveolar ridge of maxilla", "alveolar ridge cleft", "cleft of alveolar process", "cleft of gum ridge", "notch of alveolar process", "notch of alveolar ridge", "notch of gum ridge" ], "HP:0010290": [ "short hard palate", "decreased length of hard palate", "hypoplastic palate", "short palate" ], "HP:0010291": [ "prominent palatine ridge", "prominent palatine ridges", "large lateral palatal fold", "large lateral palatal folds", "large lateral palatal ridge", "large lateral palatal ridges", "prominent lateral palatal fold", "prominent lateral palatal folds", "prominent lateral palatal ridge", "prominent lateral palatal ridges", "prominent palatine fold", "prominent palatine folds" ], "HP:0010292": [ "absent uvula", "absent palatine uvula", "agenesis of uvula", "congenital absence of uvula", "miss uvula", "missing uvula", "uvula aplasia" ], "HP:0010293": [ "aplasia / hypoplasia of the uvula", "aplasia / hypoplasia of palatine uvula" ], "HP:0010294": [ "palate fistula", "hole in roof of mouth", "palatal hole", "palatal perforation" ], "HP:0010295": [ "aplasia / hypoplasia of the tongue", "lingual aplasia / hypoplasia" ], "HP:0010296": [ "ankyloglossia", "tongue tie", "tongue tied" ], "HP:0010297": [ "bifid tongue", "bifurcate tongue", "bifurcated tongue", "bilobed tongue", "cleft tongue", "fork tongue", "forked tongue", "snake tongue", "split tongue" ], "HP:0010298": [ "smooth tongue", "atrophy of dorsum of tongue", "atrophy of lingual surface", "atrophy of tongue surface", "smooth dorsum of tongue", "smooth lingual surface", "smooth surface of tongue" ], "HP:0010299": [ "abnormal dentin morphology", "abnormal dentin", "abnormality of dentin", "abnormality of dentine", "dentin anomaly" ], "HP:0010300": [ "abnormally low - pitch voice", "abnormally low - pitched voice" ], "HP:0010301": [ "spinal dysraphism", "incomplete closure of the vertebral arch" ], "HP:0010302": [ "spinal cord tumor", "spinal cord tumour", "spinal tumor", "spinal tumors", "spinal tumour", "spinal tumours", "tumor of the spinal cord", "tumour of the spinal cord" ], "HP:0009712": [ "spinal cord tumor", "spinal cord tumour", "spinal tumor", "spinal tumors", "spinal tumour", "spinal tumours", "tumor of the spinal cord", "tumour of the spinal cord" ], "HP:0010303": [ "abnormal spinal meningeal morphology", "abnormality of the spinal meninges" ], "HP:0010304": [ "spinal meningeal diverticulum" ], "HP:0010305": [ "absence of the sacrum", "absent sacrum", "sacral agenesis", "sacrococcygeal agenesis" ], "HP:0010306": [ "short thorax", "short than typical length between neck and abdomen", "shorter than typical length between neck and abdomen" ], "HP:0010307": [ "stridor", "noisy breathe", "noisy breathing" ], "HP:0010308": [ "asternia", "aplasia of the sternum", "breast bone aplasia" ], "HP:0010309": [ "bifid sternum", "sternal cleft" ], "HP:0010310": [ "chylothorax" ], "HP:0010311": [ "aplasia / hypoplasia of the breast", "aplasia / hypoplasia of the breasts", "absent / small breast", "absent / small breasts", "absent / underdevelop breast", "absent / underdeveloped breasts" ], "HP:0010312": [ "asymmetry of the breast", "asymmetry of the breasts" ], "HP:0010313": [ "breast hypertrophy", "breast enlargement", "breast enlarge", "breasts enlarged", "gigantomastia", "hypertrophy of the breast", "hypertrophy of the breasts", "large breast", "macromastia" ], "HP:0010314": [ "premature thelarche", "premature breast development" ], "HP:0010315": [ "aplasia / hypoplasia of the diaphragm", "absent / small diaprhagm", "absent / underdevelop diaprhagm", "absent / underdeveloped diaprhagm" ], "HP:0010316": [ "ebstein anomaly of the tricuspid valve", "ebstein 's anomaly", "ebstein 's anomaly of the tricuspid valve", "ebstein 's malformation" ], "HP:0006674": [ "ebstein anomaly of the tricuspid valve", "ebstein 's anomaly", "ebstein 's anomaly of the tricuspid valve", "ebstein 's malformation" ], "HP:0010317": [ "scapular aplasia", "absent scapula", "absent shoulder blade" ], "HP:0010318": [ "aplasia / hypoplasia of the abdominal wall musculature", "absent / small abdominal wall muscle", "absent / small abdominal wall muscles", "absent / underdevelop abdominal wall muscle", "absent / underdeveloped abdominal wall muscles" ], "HP:0010319": [ "abnormality of the 2nd toe" ], "HP:0010320": [ "abnormality of the 3rd toe" ], "HP:0010321": [ "abnormality of the 4th toe" ], "HP:0010322": [ "abnormality of the 5th toe", "abnormality of the little toe", "abnormality of the pinkie toe", "abnormality of the pinky toe" ], "HP:0010323": [ "abnormality of the epiphysis of the 2nd toe", "abnormality of the epiphyses of the 2nd toe", "abnormality of the end part of the 2nd toe bone" ], "HP:0010324": [ "abnormal morphology of phalanx of the 2nd toe", "abnormality of the 2nd toe bone" ], "HP:0010325": [ "aplasia / hypoplasia of the 2nd toe", "absent / small 2nd toe", "absent / underdevelop 2nd toe", "absent / underdeveloped 2nd toe" ], "HP:0010326": [ "deviation of the 2nd toe", "displacement of the 2nd toe" ], "HP:0010327": [ "flexion contracture of the 2nd toe", "joint contracture of the 2nd toe", "joint contractures of the 2nd toe" ], "HP:0010328": [ "polydactyly affect the 2nd toe", "polydactyly affecting the 2nd toe" ], "HP:0010329": [ "abnormality of the epiphysis of the 3rd toe", "abnormality of the epiphyses of the 3rd toe", "abnormality of the end part of the 3rd toe bone" ], "HP:0010330": [ "abnormality of the phalanx of the 3rd toe", "abnormality of the phalanges of the 3rd toe", "abnormality of the bone of the 3rd toe", "abnormality of the bones of the 3rd toe" ], "HP:0010331": [ "aplasia / hypoplasia of the 3rd toe", "absent / hypoplastic third toe", "absent / small 3rd toe", "absent / underdevelop 3rd toe", "absent / underdeveloped 3rd toe" ], "HP:0008100": [ "aplasia / hypoplasia of the 3rd toe", "absent / hypoplastic third toe", "absent / small 3rd toe", "absent / underdevelop 3rd toe", "absent / underdeveloped 3rd toe" ], "HP:0010332": [ "deviation of the 3rd toe", "displacement of the 3rd toe" ], "HP:0010333": [ "flexion contracture of 3rd toe", "joint contracture of the 3rd toe", "joint contractures of the 3rd toe" ], "HP:0010334": [ "polydactyly affect the 3rd toe", "polydactyly affecting the 3rd toe" ], "HP:0010335": [ "abnormality of the epiphysis of the 4th toe", "abnormality of the epiphyses of the 4th toe", "abnormality of the end part of the 4th toe bone" ], "HP:0010336": [ "abnormality of the phalanx of the 4th toe", "abnormality of the phalanges of the 4th toe" ], "HP:0010337": [ "aplasia / hypoplasia of the 4th toe", "absent / small 4th toe", "absent / underdevelop 4th toe", "absent / underdeveloped 4th toe" ], "HP:0010338": [ "deviation of the 4th toe", "displacement of the 4th toe" ], "HP:0010339": [ "flexion contracture of the 4th toe", "joint contracture of the 4th toe", "joint contractures of the 4th toe" ], "HP:0010340": [ "polydactyly affect the 4th toe", "polydactyly affecting the 4th toe" ], "HP:0010341": [ "abnormality of the epiphysis of the 5th toe", "abnormality of the epiphyses of the 5th toe", "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 pinky toe bone" ], "HP:0010342": [ "abnormality of the phalanx of the 5th toe", "abnormality of the phalanges of the 5th toe", "abnormality of the little toe bone", "abnormality of the little toe bones", "abnormality of the pinkie toe bone", "abnormality of the pinkie toe bones", "abnormality of the pinky toe bone", "abnormality of the pinky toe bones" ], "HP:0010343": [ "aplasia / hypoplasia of the 5th toe", "absent / small little toe", "absent / small pinkie toe", "absent / small pinky toe", "absent / underdevelop pinky toe", "absent / underdeveloped pinky toe" ], "HP:0010344": [ "deviation of the 5th toe", "displacement of the 5th toe", "displacement of the little toe", "displacement of the pinkie toe", "displacement of the pinky toe" ], "HP:0010345": [ "flexion contracture of the 5th toe", "joint contracture of the 5th toe", "joint contractures of the 5th toe" ], "HP:0010347": [ "aplasia / hypoplasia of the phalanx of the 2nd toe", "aplasia / hypoplasia of the phalanges of the 2nd toe", "absent / small bone of 2nd toe", "absent / small bones of 2nd toe", "absent / underdeveloped bone of 2nd toe", "absent / underdeveloped bones of 2nd toe" ], "HP:0010348": [ "broad phalanx of the 2nd toe", "broad phalanges of the 2nd toe", "broad bone of the 2nd toe", "broad bones of the 2nd toe" ], "HP:0010349": [ "bullet - shape 2nd toe phalanx", "bullet - shaped 2nd toe phalanx", "bullet - shaped bone of the 2nd toe", "bullet - shaped bones of the 2nd toe", "bullet - shaped phalanx of the 2nd toe", "bullet - shaped phalanges of the 2nd toe" ], "HP:0010350": [ "curve 2nd toe phalanx", "curved 2nd toe phalanx", "curve bone of the 2nd toe", "curved bones of the 2nd toe", "curve phalanx of the 2nd toe", "curved phalanges of the 2nd toe" ], "HP:0010351": [ "osteolytic defect of the phalanx of the 2nd toe", "osteolytic defects of the phalanges of the 2nd toe" ], "HP:0010352": [ "patchy sclerosis of 2nd toe phalanx", "patchy sclerosis of the phalanx of the 2nd toe", "patchy sclerosis of the phalanges of the 2nd toe", "uneven increase in bone density in 2nd toe bone" ], "HP:0010353": [ "second toe symphalangism", "2nd toe symphalangism", "fuse bone of 2nd toe", "fused bones of 2nd toe", "symphalangism affect the phalanx of the 2nd toe", "symphalangism affecting the phalanges of the 2nd toe" ], "HP:0010354": [ "triangular shape phalanx of the 2nd toe", "triangular shaped phalanges of the 2nd toe", "triangular shape bone of 2nd toe", "triangular shaped bone of 2nd toe", "triangular shape bone of second toe", "triangular shaped bone of second toe" ], "HP:0010355": [ "duplication of the phalanx of the 2nd toe", "duplication of the phalanges of the 2nd toe", "duplication of the bone of the 2nd toe", "duplication of the bones of the 2nd toe", "partial / complete duplication of the phalanx of the 2nd toe", "partial / complete duplication of the phalanges of the 2nd toe" ], "HP:0010356": [ "abnormality of the distal phalanx of the 2nd toe", "abnormality of the outermost bone of the 2nd toe" ], "HP:0010357": [ "abnormality of the middle phalanx of the 2nd toe", "abnormality of the middle bone of the 2nd toe" ], "HP:0010358": [ "abnormal morphology of the proximal phalanx of the 2nd toe", "abnormality of the innermost bone of the 2nd toe" ], "HP:0010359": [ "aplasia / hypoplasia of the phalanx of the 3rd toe", "aplasia / hypoplasia of the phalanges of the 3rd toe", "absent / small bone of 3rd toe", "absent / small bones of 3rd toe", "absent / underdeveloped bone of 3rd toe", "absent / underdeveloped bones of 3rd toe" ], "HP:0010360": [ "broad phalanx of the 3rd toe", "broad phalanges of the 3rd toe", "wide bone of 3rd toe", "wide bones of 3rd toe" ], "HP:0010361": [ "bullet - shape 3rd toe phalanx", "bullet - shaped 3rd toe phalanx", "bullet - shaped bone of 3rd toe", "bullet - shaped bones of 3rd toe", "bullet - shaped phalanx of the 3rd toe", "bullet - shaped phalanges of the 3rd toe" ], "HP:0010362": [ "curve 3rd toe phalanx", "curved 3rd toe phalanx", "curve bone of 3rd toe", "curved bones of 3rd toe", "curve phalanx of the 3rd toe", "curved phalanges of the 3rd toe" ], "HP:0010363": [ "osteolytic defect of the phalanx of the 3rd toe", "osteolytic defects of the phalanges of the 3rd toe" ], "HP:0010364": [ "patchy sclerosis of 3rd toe phalanx", "patchy sclerosis of the phalanx of the 3rd toe", "patchy sclerosis of the phalanges of the 3rd toe", "uneven increase in bone density in 3rd toe bone" ], "HP:0010365": [ "symphalangism affect the phalanx of the 3rd toe", "symphalangism affecting the phalanges of the 3rd toe", "fuse bone of 3rd toe", "fused bones of 3rd toe" ], "HP:0010366": [ "triangular shape phalanx of the 3rd toe", "triangular shaped phalanges of the 3rd toe", "triangular shape 3rd toe bone", "triangular shaped 3rd toe bones" ], "HP:0010367": [ "duplication of phalanx of the 3rd toe", "duplication of 3rd toe bone", "duplication of phalanx of the third toe", "partial / complete duplication of the phalanx of the 3rd toe", "partial / complete duplication of the phalanges of the 3rd toe" ], "HP:0010368": [ "abnormality of the distal phalanx of the 3rd toe", "abnormality of the outermost bone of the 3rd toe" ], "HP:0010369": [ "abnormality of the middle phalanx of the 3rd toe", "abnormality of the middle bone of 3rd toe" ], "HP:0010370": [ "abnormal morphology of the proximal phalanx of the 3rd toe", "abnormality of the innermost bone of 3rd toe" ], "HP:0010371": [ "aplasia / hypoplasia of the phalanx of the 4th toe", "aplasia / hypoplasia of the phalanges of the 4th toe", "absent / small bone of 4th toe", "absent / small bones of 4th toe", "absent / underdeveloped bone of 4th toe", "absent / underdeveloped bones of 4th toe" ], "HP:0010372": [ "broad phalanx of the 4th toe", "broad phalanges of the 4th toe", "broad bone of the 4th toe", "broad bones of the 4th toe" ], "HP:0010373": [ "bullet - shape 4th toe phalanx", "bullet - shaped 4th toe phalanx", "bullet - shaped bone of the 4th toe", "bullet - shaped bones of the 4th toe", "bullet - shaped phalanx of the 4th toe", "bullet - shaped phalanges of the 4th toe" ], "HP:0010374": [ "curve 4th toe phalanx", "curved 4th toe phalanx", "curve bone of 4th toe", "curved bones of 4th toe", "curve phalanx of the 4th toe", "curved phalanges of the 4th toe" ], "HP:0010375": [ "osteolytic defect of the phalanx of the 4th toe", "osteolytic defects of the phalanges of the 4th toe" ], "HP:0010376": [ "patchy sclerosis of 4th toe phalanx", "patchy sclerosis of the phalanx of the 4th toe", "patchy sclerosis of the phalanges of the 4th toe", "uneven increase in bone density in 4th toe bone" ], "HP:0010377": [ "symphalangism affect the phalanx of the 4th toe", "symphalangism affecting the phalanges of the 4th toe", "fuse bone of 4th toe", "fused bones of 4th toe" ], "HP:0010378": [ "triangular shape phalanx of the 4th toe", "triangular shaped phalanges of the 4th toe", "triangular shape bone of 4th toe", "triangular shaped bones of 4th toe" ], "HP:0010379": [ "duplication of phalanx of the 4th toe", "duplication of 4th toe bone", "duplication of phalanx of the fourth toe", "partial / complete duplication of the phalanx of the 4th toe", "partial / complete duplication of the phalanges of the 4th toe" ], "HP:0010380": [ "abnormality of the distal phalanx of the 4th toe", "abnormality of the outermost 4th toe bone" ], "HP:0010381": [ "abnormality of the middle phalanx of the 4th toe", "abnormality of middle 4th toe bone" ], "HP:0010382": [ "abnormal morphology of the proximal phalanx of the 4th toe", "abnormal innermost 4th toe bone" ], "HP:0010383": [ "aplasia / hypoplasia of the phalanx of the 5th toe", "aplasia / hypoplasia of the phalanges of the 5th toe", "absent / small little toe bone", "absent / small little toe bones", "absent / small pinkie toe bone", "absent / small pinkie toe bones", "absent / small pinky toe bone", "absent / small pinky toe bones", "absent / underdevelop pinky toe bone", "absent / underdeveloped pinky toe bones" ], "HP:0010384": [ "broad phalanx of the 5th toe", "broad phalanges of the 5th toe", "broad bone of the little toe", "broad bones of the little toe", "broad bone of the pinkie toe", "broad bones of the pinkie toe", "broad bone of the pinky toe", "broad bones of the pinky toe" ], "HP:0010385": [ "bullet - shape 5th toe phalanx", "bullet - shaped 5th toe phalanx", "bullet - shaped bone of the little toe", "bullet - shaped bones of the little toe", "bullet - shaped bone of the pinkie toe", "bullet - shaped bones of the pinkie toe", "bullet - shaped bone of the pinky toe", "bullet - shaped bones of the pinky toe", "bullet - shaped phalanx of the 5th toe", "bullet - shaped phalanges of the 5th toe" ], "HP:0010386": [ "curve 5th toe phalanx", "curved 5th toe phalanx", "curve little toe bone", "curved little toe bones", "curve phalanx of the 5th toe", "curved phalanges of the 5th toe", "curve pinkie toe bone", "curved pinkie toe bones", "curve pinky toe bone", "curved pinky toe bones" ], "HP:0010387": [ "osteolytic defect of the phalanx of the 5th toe", "osteolytic defects of the phalanges of the 5th toe" ], "HP:0010388": [ "patchy sclerosis of 5th toe phalanx", "patchy sclerosis of the phalanx of the 5th toe", "patchy sclerosis of the phalanges of the 5th toe", "uneven increase in bone density in little toe bone", "uneven increase in bone density in pinkie toe bone", "uneven increase in bone density in pinky toe bone" ], "HP:0010389": [ "symphalangism affect the phalanx of the 5th toe", "symphalangism affecting the phalanges of the 5th toe", "fuse bone in the little toe", "fused bones in the little toe", "fuse bone in the pinkie toe", "fused bones in the pinkie toe", "fuse bone in the pinky toe", "fused bones in the pinky toe" ], "HP:0010390": [ "triangular shape phalanx of the 5th toe", "triangular shaped phalanges of the 5th toe", "triangular shape little toe bone", "triangular shaped little toe bone", "triangular shape pinkie toe bone", "triangular shaped pinkie toe bone", "triangular shape pinky toe bone", "triangular shaped pinky toe bone" ], "HP:0010391": [ "duplication of the phalanx of the 5th toe", "duplication of the phalanges of the 5th toe", "duplication of the bone of the little toe", "duplication of the bones of the little toe", "duplication of the bone of the pinkie toe", "duplication of the bones of the pinkie toe", "duplication of the bone of the pinky toe", "duplication of the bones of the pinky toe", "duplication of the phalanx of the fifth toe", "duplication of the phalanges of the fifth toe", "partial / complete duplication of the phalanx of the 5th toe", "partial / complete duplication of the phalanges of the 5th toe" ], "HP:0010392": [ "abnormality of the distal phalanx of the 5th 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 pinky toe" ], "HP:0010393": [ "abnormality of the middle phalanx of the 5th 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 pinky toe" ], "HP:0010394": [ "abnormal morphology of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0010395": [ "aplasia / hypoplasia of the proximal phalanx of the 2nd toe", "absent / small innermost 2nd toe bone", "absent / underdevelop innermost 2nd toe bone", "absent / underdeveloped innermost 2nd toe bone" ], "HP:0010396": [ "broad proximal phalanx of the 2nd toe", "broad innermost bone of 2nd toe" ], "HP:0010397": [ "bullet - shape proximal phalanx of the 2nd toe", "bullet - shaped proximal phalanx of the 2nd toe", "bullet - shape innermost bone of 2nd toe", "bullet - shaped innermost bone of 2nd toe" ], "HP:0010398": [ "curve proximal phalanx of the 2nd toe", "curved proximal phalanx of the 2nd toe", "curve innermost bone of 2nd toe", "curved innermost bone of 2nd toe" ], "HP:0010399": [ "osteolytic defect of the proximal phalanx of the 2nd toe", "osteolytic defects of the proximal phalanx of the 2nd toe" ], "HP:0010400": [ "patchy sclerosis of the proximal phalanx of the 2nd toe", "uneven increase in bone density in the innermost bone of the 2nd toe" ], "HP:0010401": [ "symphalangism affect the proximal phalanx of the 2nd toe", "symphalangism affecting the proximal phalanx of the 2nd toe", "fuse innermost bone of the 2nd toe", "fused innermost bone of the 2nd toe" ], "HP:0010402": [ "triangular shape proximal phalanx of the 2nd toe", "triangular shaped proximal phalanx of the 2nd toe", "triangular shape innermost 2nd toe bone", "triangular shaped innermost 2nd toe bone" ], "HP:0010403": [ "duplication of the proximal phalanx of the 2nd toe", "duplication of innermost 2nd toe bone", "duplication of the proximal phalanx of the second toe", "partial / complete duplication of the proximal phalanx of the 2nd toe" ], "HP:0010404": [ "aplasia / hypoplasia of the middle phalanx of the 2nd toe", "absent / small middle bone of 2nd toe", "absent / underdevelop middle bone of 2nd toe", "absent / underdeveloped middle bone of 2nd toe" ], "HP:0010405": [ "broad middle phalanx of the 2nd toe", "broad middle bone of 2nd toe" ], "HP:0010406": [ "bullet - shape middle phalanx of the 2nd toe", "bullet - shaped middle phalanx of the 2nd toe", "bullet - shape middle bone of 2nd toe", "bullet - shaped middle bone of 2nd toe" ], "HP:0010407": [ "curve middle phalanx of the 2nd toe", "curved middle phalanx of the 2nd toe", "curve middle bone of 2nd toe", "curved middle bone of 2nd toe" ], "HP:0010408": [ "osteolytic defect of the middle phalanx of the 2nd toe", "osteolytic defects of the middle phalanx of the 2nd toe" ], "HP:0010409": [ "patchy sclerosis of the middle phalanx of the 2nd toe", "uneven increase in bone density in the middle bone of the 2nd toe" ], "HP:0010410": [ "symphalangism affect the middle phalanx of the 2nd toe", "symphalangism affecting the middle phalanx of the 2nd toe", "fuse middle bone of 2nd toe", "fused middle bone of 2nd toe" ], "HP:0010411": [ "triangular shape middle phalanx of the 2nd toe", "triangular shaped middle phalanx of the 2nd toe", "triangular shape middle bone of 2nd toe", "triangular shaped middle bone of 2nd toe" ], "HP:0010412": [ "duplication of the middle phalanx of the 2nd toe", "duplication of middle bone of 2nd toe", "partial / complete duplication of the middle phalanx of the 2nd toe" ], "HP:0010413": [ "aplasia / hypoplasia of the distal phalanx of the 2nd toe", "absent / small outermost 2nd toe bone", "absent / underdevelop outermost 2nd toe bone", "absent / underdeveloped outermost 2nd toe bone" ], "HP:0010414": [ "broad distal phalanx of the 2nd toe", "broad outermost bone of the 2nd toe", "wide outermost bone of the 2nd toe" ], "HP:0010415": [ "bullet - shaped distal phalanx of the 2nd toe", "bullet - shape outermost bone of the 2nd toe", "bullet - shaped outermost bone of the 2nd toe" ], "HP:0010416": [ "curve distal phalanx of the 2nd toe", "curved distal phalanx of the 2nd toe", "curve outermost bone of the 2nd toe", "curved outermost bone of the 2nd toe" ], "HP:0010417": [ "osteolytic defect of the distal phalanx of the 2nd toe", "osteolytic defects of the distal phalanx of the 2nd toe" ], "HP:0010418": [ "patchy sclerosis of the distal phalanx of the 2nd toe", "uneven increase in bone density in the outermost bone of the 2nd toe" ], "HP:0010419": [ "symphalangism affect the distal phalanx of the 2nd toe", "symphalangism affecting the distal phalanx of the 2nd toe", "fuse outermost bone of the 2nd toe", "fused outermost bone of the 2nd toe" ], "HP:0010420": [ "triangular shape distal phalanx of the 2nd toe", "triangular shaped distal phalanx of the 2nd toe", "triangular shape outermost 2nd toe bone", "triangular shaped outermost 2nd toe bone" ], "HP:0010421": [ "duplication of the distal phalanx of the 2nd toe", "duplication of the outermost bone of the 2nd toe", "partial / complete duplication of the distal phalanx of the 2nd toe" ], "HP:0010422": [ "complete duplication of the proximal phalanx of the 2nd toe", "complete duplication of the innermost 2nd toe bone", "complete duplication of the proximal phalanx of the second toe" ], "HP:0010423": [ "partial duplication of the proximal phalanx of the 2nd toe", "partial duplication of the innermost 2nd toe bone", "partial duplication of the proximal phalanx of the second toe" ], "HP:0010424": [ "complete duplication of the distal phalanx of the 2nd toe", "complete duplication of the outermost bone of the 2nd toe" ], "HP:0010425": [ "partial duplication of the distal phalanx of the 2nd toe", "partial duplication of the outermost bone of the 2nd toe" ], "HP:0010426": [ "complete duplication of the middle phalanx of the 2nd toe", "complete duplication of the middle bone of the 2nd toe" ], "HP:0010427": [ "partial duplication of the middle phalanx of the 2nd toe", "partial duplication of the middle bone of the 2nd toe" ], "HP:0010428": [ "partial duplication of phalanx of the 2nd toe", "partial duplication of 2nd toe bone" ], "HP:0010429": [ "complete duplication of the phalanx of the 2nd toe", "complete duplication of the phalanges of the 2nd toe", "complete duplication of the 2nd toe bone", "complete duplication of the 2nd toe bones" ], "HP:0010430": [ "aplasia of the phalanx of the 2nd toe", "aplasia of the phalanges of the 2nd toe", "absent 2nd toe bone", "absent 2nd toe bones" ], "HP:0100361": [ "aplasia of the phalanx of the 2nd toe", "aplasia of the phalanges of the 2nd toe", "absent 2nd toe bone", "absent 2nd toe bones" ], "HP:0010431": [ "short phalanx of the 2nd toe", "hypoplastic / small phalanx of the 2nd toe", "hypoplastic / small phalanges of the 2nd toe", "short 2nd toe bone", "short phalanx of the second toe" ], "HP:0100365": [ "short phalanx of the 2nd toe", "hypoplastic / small phalanx of the 2nd toe", "hypoplastic / small phalanges of the 2nd toe", "short 2nd toe bone", "short phalanx of the second toe" ], "HP:0010432": [ "absent distal phalanx of the 2nd toe", "absent distal phalanx of the second toe", "absent outermost bone of the 2nd toe", "aplasia of the distal phalanx of the 2nd toe" ], "HP:0010433": [ "short distal phalanx of the 2nd toe", "hypoplastic / small distal phalanx of the 2nd toe", "short distal phalanx of the second toe", "short outermost bone of the 2nd toe" ], "HP:0010434": [ "aplasia of the middle phalanx of the 2nd toe", "absent middle bone of 2nd toe" ], "HP:0010435": [ "short middle phalanx of the 2nd toe", "hypoplastic / small middle phalanx of the 2nd toe", "short middle 2nd toe bone", "short middle phalanx of the second toe" ], "HP:0010436": [ "aplasia of the proximal phalanx of the 2nd toe", "absent innermost 2nd toe bone" ], "HP:0010437": [ "short proximal phalanx of the 2nd toe", "hypoplastic / small proximal phalanx of the 2nd toe", "short innermost 2nd toe bone", "short proximal phalanx of the second toe" ], "HP:0010438": [ "abnormal ventricular septum morphology", "abnormal interventricular septum morphology", "abnormality of the ventricular septum", "ventricular septum abnormality" ], "HP:0001628": [ "abnormal ventricular septum morphology", "abnormal interventricular septum morphology", "abnormality of the ventricular septum", "ventricular septum abnormality" ], "HP:0010440": [ "ectopic accesory toe - like appendage" ], "HP:0010441": [ "ectopic accessory finger - like appendage" ], "HP:0010442": [ "polydactyly", "more than five finger or toe on hand or foot", "more than five fingers or toes on hands or feet" ], "HP:0006034": [ "polydactyly", "more than five finger or toe on hand or foot", "more than five fingers or toes on hands or feet" ], "HP:0006046": [ "polydactyly", "more than five finger or toe on hand or foot", "more than five fingers or toes on hands or feet" ], "HP:0006123": [ "polydactyly", "more than five finger or toe on hand or foot", "more than five fingers or toes on hands or feet" ], "HP:0009605": [ "polydactyly", "more than five finger or toe on hand or foot", "more than five fingers or toes on hands or feet" ], "HP:0010443": [ "bifid femur", "notch thighbone", "notched thighbone", "split thighbone" ], "HP:0010444": [ "pulmonary insufficiency", "pulmonary incompetence", "puolmonary valve insufficiency" ], "HP:0010445": [ "primum atrial septal defect", "atrial septal defect , primum type", "ostium primum atrial septal defect", "primum atrioventricular canal defect", "septum primum defect" ], "HP:0010446": [ "tricuspid stenosis" ], "HP:0010447": [ "anal fistula", "fistula in ano" ], "HP:0010448": [ "colonic atresia", "atresia of the large intestine", "large intestinal atresia" ], "HP:0010450": [ "esophageal stenosis", "narrowing of the esophagus", "narrowing of the oesophagus" ], "HP:0010451": [ "aplasia / hypoplasia of the spleen", "absent / small spleen", "absent / underdevelop spleen", "absent / underdeveloped spleen" ], "HP:0010452": [ "ectopia of the spleen", "abnormal spleen location", "ectopic spleen" ], "HP:0010453": [ "pelvic bone asymmetry", "asymmetric pelvis", "pelvic asymmetry" ], "HP:0010454": [ "acetabular spur", "acetabular spurs" ], "HP:0010455": [ "steep acetabular roof" ], "HP:0010456": [ "abnormal great sciatic notch morphology", "abnormal greater sciatic notch morphology", "abnormality of great sciatic notch", "abnormality of greater sciatic notch", "abnormality of the great sacrosciatic notch", "abnormality of the greater sacrosciatic notch", "abnormality of the sacroiliac notch", "obsolete abnormality of the sacroiliac notch" ], "HP:0030266": [ "abnormal great sciatic notch morphology", "abnormal greater sciatic notch morphology", "abnormality of great sciatic notch", "abnormality of greater sciatic notch", "abnormality of the great sacrosciatic notch", "abnormality of the greater sacrosciatic notch", "abnormality of the sacroiliac notch", "obsolete abnormality of the sacroiliac notch" ], "HP:0010458": [ "female pseudohermaphroditism" ], "HP:0010459": [ "true hermaphroditism", "testicular and ovarian tissue present" ], "HP:0003242": [ "true hermaphroditism", "testicular and ovarian tissue present" ], "HP:0010460": [ "abnormality of the female genitalia" ], "HP:0010461": [ "abnormality of the male genitalia", "abnormal male genitals" ], "HP:0010462": [ "aplasia / hypoplasia of the ovary", "absent / small ovary", "absent / underdevelop ovary", "absent / underdeveloped ovary" ], "HP:0010463": [ "aplasia of the ovary", "absent ovary", "aplasia of the ovaries", "bilateral absent ovary", "bilateral absent ovaries" ], "HP:0010464": [ "streak ovary" ], "HP:0010465": [ "precocious puberty in female", "precocious puberty in females" ], "HP:0010468": [ "aplasia / hypoplasia of the testis", "aplasia / hypoplasia of the testes", "absent / small testis", "absent / small testes", "absent / underdevelop testis", "absent / underdeveloped testes" ], "HP:0010469": [ "absent testis", "absence of palpable testicules", "absent testes", "aplasia of the testis", "aplasia of the testes" ], "HP:0010470": [ "supernumerary testis", "supernumerary testes", "extra testis", "extra testes", "polyorchidism" ], "HP:0010471": [ "oligosacchariduria" ], "HP:0010472": [ "abnormal circulate porphyrin concentration", "abnormal circulating porphyrin concentration" ], "HP:0010473": [ "porphyrinuria" ], "HP:0010474": [ "bladder stone", "bladder stones" ], "HP:0010475": [ "cloacal exstrophy" ], "HP:0010476": [ "aplasia / hypoplasia of the bladder", "absent / small bladder", "absent / underdevelop bladder", "absent / underdeveloped bladder" ], "HP:0010477": [ "aplasia of the bladder", "absent bladder" ], "HP:0010478": [ "abnormality of the urachus" ], "HP:0010479": [ "patent urachus", "persistent urachus" ], "HP:0010480": [ "urethral fistula" ], "HP:0010481": [ "urethral valve" ], "HP:0010482": [ "acromelia of the upper limb", "acromelia of the upper limbs" ], "HP:0010483": [ "amniotic constriction ring of arm", "amniotic constriction rings of arms" ], "HP:0010484": [ "hypertrophy of the upper limb", "increase size of upper limb", "increased size of upper limb" ], "HP:0010485": [ "hyperextensibility at elbow" ], "HP:0010486": [ "abnormality of the hypothenar eminence" ], "HP:0010487": [ "small hypothenar eminence", "hypoplasia of the hypothenar eminence", "hypothenar hypoplasia" ], "HP:0005721": [ "small hypothenar eminence", "hypoplasia of the hypothenar eminence", "hypothenar hypoplasia" ], "HP:0010488": [ "aplasia / hypoplasia of the palmar crease", "aplasia / hypoplasia of the palmar creases", "absent / small palm crease", "absent / underdevelop palm crease", "absent / underdeveloped palm crease" ], "HP:0010489": [ "absent palmar crease", "absence of the palmar crease", "absence of the palmar creases", "absent palm line", "absent palm lines", "aplasia of the palmar crease", "aplasia of the palmar creases" ], "HP:0010490": [ "abnormality of the palmar crease", "abnormality of the palmar creases", "abnormality of the palm line", "abnormality of the palm lines" ], "HP:0010491": [ "digital constriction ring", "amniotic constriction ring of digit", "amniotic constriction rings of digits" ], "HP:0010492": [ "osseous finger syndactyly", "osseous syndactyly of the finger", "osseous syndactyly of the fingers" ], "HP:0010493": [ "long metacarpal", "long metacarpals", "elongate long bone of hand", "elongated long bone of hand", "increased length of metacarpal", "increased length of metacarpals" ], "HP:0010494": [ "acromelia of the low limb", "acromelia of the lower limbs" ], "HP:0010495": [ "amniotic constriction ring of leg", "amniotic constriction rings of legs" ], "HP:0010496": [ "hypertrophy of the low limb", "hypertrophy of the lower limb" ], "HP:0010497": [ "sirenomelia", "sympodia" ], "HP:0010498": [ "bipartite patella" ], "HP:0010499": [ "patellar subluxation", "partial knee cap dislocation", "subluxation of patella" ], "HP:0010500": [ "hyperextensibility of the knee" ], "HP:0010501": [ "limitation of knee mobility", "limited knee movement" ], "HP:0005030": [ "limitation of knee mobility", "limited knee movement" ], "HP:0005192": [ "limitation of knee mobility", "limited knee movement" ], "HP:0010502": [ "fibular bowing", "bow calf bone", "bowed calf bone" ], "HP:0010503": [ "fibular duplication", "duplicate calf bone", "duplicated calf bone" ], "HP:0010504": [ "increased length of the tibia", "increased length of shankbone", "increased length of shinbone" ], "HP:0010505": [ "limitation of movement at ankle", "limitation of movement at ankles" ], "HP:0010506": [ "abnormal plantar dermatoglyphic", "abnormal plantar dermatoglyphics", "abnormal dermatoglyphic on foot", "abnormal dermatoglyphics on feet", "abnormal print on foot", "abnormal prints on feet" ], "HP:0010507": [ "foot asymmetry" ], "HP:0010508": [ "metatarsus valgus" ], "HP:0010509": [ "aplasia of the tarsal bone", "aplasia of the tarsal bones", "absent ankle bone", "absent tarsal", "absent tarsals" ], "HP:0010510": [ "hypermobility of toe joint", "hypermobility of toe joints" ], "HP:0010511": [ "long toe", "increased length of toe", "increased length of toes", "long toes" ], "HP:0010512": [ "adrenal calcification" ], "HP:0010513": [ "pituitary calcification" ], "HP:0010514": [ "hyperpituitarism" ], "HP:0010515": [ "aplasia / hypoplasia of the thymus", "absent / small thymus", "absent / underdevelop thymus", "absent / underdeveloped thymus", "thymic hypoplasia or aplasia" ], "HP:0010516": [ "thymus hyperplasia", "enlarge thymus", "enlarged thymus", "thymic hyperplasia" ], "HP:0010517": [ "ectopic thymus tissue", "abnormal thymus position" ], "HP:0010518": [ "thyroglossal cyst", "thyroglossal duct cyst" ], "HP:0010519": [ "increase fetal movement", "increased fetal movement", "fetal hyperkinesia", "foetal hyperkinesia", "increase foetal movement", "increased foetal movement" ], "HP:0010521": [ "gait apraxia" ], "HP:0010522": [ "dyslexia", "reading disability" ], "HP:0006871": [ "dyslexia", "reading disability" ], "HP:0010523": [ "alexia", "text blindness", "word blindness" ], "HP:0010524": [ "agnosia" ], "HP:0010525": [ "finger agnosia" ], "HP:0010526": [ "dysgraphia" ], "HP:0010527": [ "astereognosia", "astereognosis", "somatosensory agnosia" ], "HP:0010528": [ "prosopagnosia", "face blindness", "facial agnosia" ], "HP:0010529": [ "echolalia", "echo another person 's speech", "echoing another person 's speech", "echologia", "echophrasia", "repeat speech", "repeated speech" ], "HP:0010530": [ "palatal myoclonus" ], "HP:0010531": [ "spinal myoclonus" ], "HP:0010532": [ "paroxysmal vertigo" ], "HP:0010533": [ "spasmus nutans" ], "HP:0010534": [ "transient global amnesia" ], "HP:0010535": [ "sleep apnea", "pause in breathe while sleep", "pauses in breathing while sleeping", "sleep apnoea" ], "HP:0010536": [ "central sleep apnea", "central sleep apnoea" ], "HP:0010537": [ "wide cranial suture", "wide cranial sutures", "broad cranial suture", "broad cranial sutures", "large cranial suture", "open cranial suture", "open cranial sutures", "persistent open cranial suture", "persistent open cranial sutures", "widen cranial suture", "widened cranial sutures" ], "HP:0010538": [ "small sella turcica", "hypoplasia of hypophseal fossa", "hypoplasia of pituitary fossa", "hypoplasia of sella turcica", "small hypophyseal fossa", "small pituitary fossa" ], "HP:0010539": [ "thin calvarium", "thin cranial bone", "thin skull bone" ], "HP:0010540": [ "advanced pneumatization of cranial sinus", "advanced pneumatization of cranial sinuses" ], "HP:0010541": [ "cutis gyrata of scalp", "cutis verticis gyrata", "furrow in thickened skin on top of scalp", "furrows in thickened skin on top of scalp", "scalp fold", "scalp folds", "scalp furrow", "scalp furrows", "thicken fold on top of scalp", "thickened folds on top of scalp", "thickening of the scalp" ], "HP:0010542": [ "vestibular nystagmus" ], "HP:0010543": [ "opsoclonus" ], "HP:0010544": [ "vertical nystagmus" ], "HP:0010545": [ "downbeat nystagmus" ], "HP:0010546": [ "muscle fibrillation", "twitch", "twitching" ], "HP:0010547": [ "muscle flaccidity" ], "HP:0010548": [ "percussion myotonia", "transient swelling of muscle induce by percussion", "transient swelling of muscle induced by percussion" ], "HP:0004304": [ "percussion myotonia", "transient swelling of muscle induce by percussion", "transient swelling of muscle induced by percussion" ], "HP:0010549": [ "weakness due to upper motor neuron dysfunction", "paralysis due to lesion of the principle motor tract", "paralysis due to lesions of the principle motor tracts" ], "HP:0010550": [ "paraplegia", "leg paralysis" ], "HP:0010551": [ "paraplegia / paraparesis" ], "HP:0010553": [ "oculogyric crisis" ], "HP:0010554": [ "cutaneous finger syndactyly", "cutaneous syndactyly of finger", "cutaneous syndactyly of fingers", "cutaneous syndactyly of hand", "cutaneous syndactyly of hands", "webbed finger", "webbed fingers", "webbed skin of finger", "webbed skin of fingers" ], "HP:0001214": [ "cutaneous finger syndactyly", "cutaneous syndactyly of finger", "cutaneous syndactyly of fingers", "cutaneous syndactyly of hand", "cutaneous syndactyly of hands", "webbed finger", "webbed fingers", "webbed skin of finger", "webbed skin of fingers" ], "HP:0005637": [ "cutaneous finger syndactyly", "cutaneous syndactyly of finger", "cutaneous syndactyly of fingers", "cutaneous syndactyly of hand", "cutaneous syndactyly of hands", "webbed finger", "webbed fingers", "webbed skin of finger", "webbed skin of fingers" ], "HP:0006054": [ "cutaneous finger syndactyly", "cutaneous syndactyly of finger", "cutaneous syndactyly of fingers", "cutaneous syndactyly of hand", "cutaneous syndactyly of hands", "webbed finger", "webbed fingers", "webbed skin of finger", "webbed skin of fingers" ], "HP:0006220": [ "cutaneous finger syndactyly", "cutaneous syndactyly of finger", "cutaneous syndactyly of fingers", "cutaneous syndactyly of hand", "cutaneous syndactyly of hands", "webbed finger", "webbed fingers", "webbed skin of finger", "webbed skin of fingers" ], "HP:0010557": [ "overlap finger", "overlapping fingers" ], "HP:0010558": [ "abnormality of the clivus" ], "HP:0010559": [ "vertical clivus" ], "HP:0010560": [ "undulate clavicle", "undulate clavicles", "wavy clavicle", "wavy clavicles", "wavy collarbone" ], "HP:0010561": [ "undulate rib", "undulate ribs", "wavy rib", "wavy ribs" ], "HP:0010562": [ "keloid", "keloids" ], "HP:0010564": [ "bifid epiglottis" ], "HP:0010565": [ "aplasia / hypoplasia of the epiglottis" ], "HP:0010566": [ "hamartoma" ], "HP:0010567": [ "y - shape metatarsal", "y - shaped metatarsals", "y - shape long bone of foot", "y - shaped long bone of foot" ], "HP:0010568": [ "hamartoma of the eye" ], "HP:0010569": [ "elevate 7 - dehydrocholesterol", "elevated 7 - dehydrocholesterol", "elevated level of cholesta - 5,7 - dien - 3beta - ol", "elevated levels of cholesta - 5,7 - dien - 3beta - ol" ], "HP:0010570": [ "low maternal serum alpha - fetoprotein" ], "HP:0010571": [ "elevated level of phytanic acid", "elevated levels of phytanic acid" ], "HP:0010574": [ "abnormality of the epiphysis of the femoral head", "abnormality of the end part of the innermost thighbone", "abnormality of the proximal femoral epiphysis" ], "HP:0010589": [ "abnormality of the epiphysis of the femoral head", "abnormality of the end part of the innermost thighbone", "abnormality of the proximal femoral epiphysis" ], "HP:0010575": [ "dysplasia of the femoral head", "abnormality of femoral head development", "dysplastic femoral head" ], "HP:0010576": [ "intracranial cystic lesion", "cerebral cystic malformation" ], "HP:0010577": [ "absent epiphysis", "absent epiphyses", "absent end part of bone" ], "HP:0010578": [ "bracket epiphysis", "bracket epiphyses", "bracket shape end part of long bone", "bracket shaped end part of long bone" ], "HP:0010579": [ "cone - shaped epiphysis", "cone - shaped end part of bone", "cone - shaped epiphyses" ], "HP:0000937": [ "cone - shaped epiphysis", "cone - shaped end part of bone", "cone - shaped epiphyses" ], "HP:0006078": [ "cone - shaped epiphysis", "cone - shaped end part of bone", "cone - shaped epiphyses" ], "HP:0010580": [ "enlarge epiphysis", "enlarged epiphyses", "large end part of bone", "large epiphysis", "large epiphyses", "widen , distorted epiphysis", "widened , distorted epiphyses" ], "HP:0003018": [ "enlarge epiphysis", "enlarged epiphyses", "large end part of bone", "large epiphysis", "large epiphyses", "widen , distorted epiphysis", "widened , distorted epiphyses" ], "HP:0003055": [ "enlarge epiphysis", "enlarged epiphyses", "large end part of bone", "large epiphysis", "large epiphyses", "widen , distorted epiphysis", "widened , distorted epiphyses" ], "HP:0005082": [ "enlarge epiphysis", "enlarged epiphyses", "large end part of bone", "large epiphysis", "large epiphyses", "widen , distorted epiphysis", "widened , distorted epiphyses" ], "HP:0010582": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0002765": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0003039": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0005007": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0005023": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0005749": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0010581": [ "irregular epiphysis", "irregular epiphyses", "irregular end part of long bone" ], "HP:0010583": [ "ivory epiphysis", "ivory epiphyses", "epiphyseal sclerosis", "increase bone density in end part of bone", "increased bone density in end part of bone" ], "HP:0010584": [ "pseudoepiphyses" ], "HP:0010585": [ "small epiphysis", "small epiphyses", "small end part of bone" ], "HP:0005730": [ "small epiphysis", "small epiphyses", "small end part of bone" ], "HP:0010587": [ "triangular epiphysis", "triangular epiphyses", "triangular end part of bone" ], "HP:0010588": [ "premature epimetaphyseal fusion", "premature closure of epiphysis", "premature closure of epiphyses" ], "HP:0010590": [ "abnormality of the distal femoral epiphysis", "abnormality of the end part of the outermost thighbone" ], "HP:0010591": [ "abnormality of the proximal tibial epiphysis", "abnormality of the end part of innermost shankbone", "abnormality of the end part of innermost shinbone" ], "HP:0010592": [ "abnormality of the distal tibial epiphysis", "abnormality of the end part of outermost shankbone", "abnormality of the end part of outermost shinbone" ], "HP:0010593": [ "abnormality of fibular epiphysis", "abnormality of fibular epiphyses", "abnormality of the end part of the calf bone" ], "HP:0010594": [ "abnormality of the proximal fibular epiphysis", "abnormality of the innermost end part of calf bone" ], "HP:0010595": [ "abnormality of the distal fibular epiphysis", "abnormality of the outermost end part of calf bone" ], "HP:0010596": [ "abnormality of the proximal radial epiphysis" ], "HP:0010597": [ "abnormality of the distal radial epiphysis" ], "HP:0010598": [ "abnormality of the proximal humeral epiphysis", "abnormality of the end part of the innermost long bone in upper arm" ], "HP:0010599": [ "abnormality of the distal humeral epiphysis", "abnormality of the end part of the outermost long bone in upper arm" ], "HP:0010600": [ "abnormality of the distal ulnar epiphysis" ], "HP:0010601": [ "abnormality of the proximal ulnar epiphysis" ], "HP:0010602": [ "type 2 muscle fiber predominance", "type 2 muscle fibre predominance", "type ii muscle fiber predominance", "type ii muscle fibre predominance" ], "HP:0010603": [ "odontogenic keratocysts of the jaw", "keratocystic odontogenic tumor", "keratocystic odontogenic tumour", "keratocysts of the jaw" ], "HP:0010604": [ "cyst of the eyelid", "eyelid bump", "eyelid mass", "lesion of the eyelid" ], "HP:0010605": [ "chalazion", "meibomian gland lipogranuloma" ], "HP:0010606": [ "hordeolum", "red bump on eyelid", "stye of eyelid" ], "HP:0010607": [ "hordeolum externum" ], "HP:0010608": [ "hordeolum internum", "red bump on inner eyelid", "stye of inner eyelid" ], "HP:0010609": [ "skin tag", "skin tags", "acrochorda" ], "HP:0010610": [ "palmar pit", "palmar pits" ], "HP:0010612": [ "plantar pit", "plantar pits" ], "HP:0010614": [ "fibroma" ], "HP:0010615": [ "angiofibromas" ], "HP:0010616": [ "lung fibroma" ], "HP:0010617": [ "cardiac fibroma" ], "HP:0010618": [ "ovarian fibroma" ], "HP:0010619": [ "fibroadenoma of the breast", "breast fibroadenoma", "breast fibroadenomas", "breast fibroadenosis", "fibroadenosis - breast", "fibroadenosis of breast" ], "HP:0010620": [ "malar prominence", "hyperplasia of malar bone", "hyperplasia of malar bones", "malar excess", "malar hyperplasia", "prominent malar region" ], "HP:0000310": [ "malar prominence", "hyperplasia of malar bone", "hyperplasia of malar bones", "malar excess", "malar hyperplasia", "prominent malar region" ], "HP:0010621": [ "cutaneous syndactyly of toe", "cutaneous syndactyly of toes", "cutaneous syndactyly of foot", "cutaneous syndactyly of feet", "soft tissue syndactyly of toe", "soft tissue syndactyly of toes", "webbed skin of toe", "webbed skin of toes" ], "HP:0001990": [ "cutaneous syndactyly of toe", "cutaneous syndactyly of toes", "cutaneous syndactyly of foot", "cutaneous syndactyly of feet", "soft tissue syndactyly of toe", "soft tissue syndactyly of toes", "webbed skin of toe", "webbed skin of toes" ], "HP:0004707": [ "cutaneous syndactyly of toe", "cutaneous syndactyly of toes", "cutaneous syndactyly of foot", "cutaneous syndactyly of feet", "soft tissue syndactyly of toe", "soft tissue syndactyly of toes", "webbed skin of toe", "webbed skin of toes" ], "HP:0010555": [ "cutaneous syndactyly of toe", "cutaneous syndactyly of toes", "cutaneous syndactyly of foot", "cutaneous syndactyly of feet", "soft tissue syndactyly of toe", "soft tissue syndactyly of toes", "webbed skin of toe", "webbed skin of toes" ], "HP:0010622": [ "neoplasm of the skeletal system", "bone neoplasm", "neoplasia of the skeletal system", "skeletal tumor", "skeletal tumour" ], "HP:0010624": [ "aplastic / hypoplastic toenail", "absent / small toenail", "absent / small toenails", "absent / underdevelop toenail", "absent / underdeveloped toenails", "aplastic / hypoplastic toenails", "hypoplastic - absent toenail", "hypoplastic - absent toenails" ], "HP:0008381": [ "aplastic / hypoplastic toenail", "absent / small toenail", "absent / small toenails", "absent / underdevelop toenail", "absent / underdeveloped toenails", "aplastic / hypoplastic toenails", "hypoplastic - absent toenail", "hypoplastic - absent toenails" ], "HP:0008389": [ "aplastic / hypoplastic toenail", "absent / small toenail", "absent / small toenails", "absent / underdevelop toenail", "absent / underdeveloped toenails", "aplastic / hypoplastic toenails", "hypoplastic - absent toenail", "hypoplastic - absent toenails" ], "HP:0010625": [ "anterior pituitary dysgenesis", "adenohypophysis" ], "HP:0010626": [ "anterior pituitary agenesis", "absent pituitary gland", "aplasia of the pituitary gland" ], "HP:0010627": [ "anterior pituitary hypoplasia", "hypoplasia of the pituitary gland", "underdeveloped pituitary gland" ], "HP:0008238": [ "anterior pituitary hypoplasia", "hypoplasia of the pituitary gland", "underdeveloped pituitary gland" ], "HP:0010628": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0000296": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0000302": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0000344": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0000353": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0002008": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0002259": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0002517": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0004670": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0007212": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0200004": [ "facial palsy", "bell 's palsy", "cranial nerve vii palsy", "facial muscle weakness of muscle innervate by cn vii", "facial muscle weakness of muscles innervated by cn vii", "facial nerve palsy", "facial nerve paralysis", "facial palsy , unilateral or bilateral", "seventh cranial nerve palsy", "vii th cranial nerve palsy" ], "HP:0010629": [ "abnormal morphology of the cortex of the humerus" ], "HP:0010630": [ "abnormality of metatarsal epiphysis", "abnormality of end part of long bone of foot", "abnormality of the epiphysis of the metatarsal", "abnormality of the epiphyses of the metatarsals" ], "HP:0010631": [ "abnormality of the epiphysis of the foot", "abnormality of the epiphyses of the feet", "abnormality of the end part of the foot bone" ], "HP:0010632": [ "total anosmia" ], "HP:0010633": [ "partial anosmia" ], "HP:0010634": [ "total hyposmia" ], "HP:0010635": [ "partial hyposmia" ], "HP:0010636": [ "schizencephaly" ], "HP:0010637": [ "conjunctival amyloidosis" ], "HP:0010638": [ "elevate alkaline phosphatase of hepatic origin", "elevated alkaline phosphatase of hepatic origin", "elevate alp of hepatic origin", "elevated alp of hepatic origin" ], "HP:0010639": [ "elevate alkaline phosphatase of bone origin", "elevated alkaline phosphatase of bone origin", "elevate alp of bone origin", "elevated alp of bone origin", "increase serum bone - specific alkaline phosphatase", "increased serum bone - specific alkaline phosphatase" ], "HP:0008266": [ "elevate alkaline phosphatase of bone origin", "elevated alkaline phosphatase of bone origin", "elevate alp of bone origin", "elevated alp of bone origin", "increase serum bone - specific alkaline phosphatase", "increased serum bone - specific alkaline phosphatase" ], "HP:0010640": [ "abnormality of the nasal cavity" ], "HP:0010641": [ "abnormality of the midnasal cavity" ], "HP:0010643": [ "midnasal atresia" ], "HP:0010644": [ "midnasal stenosis", "midnasal atresia or stenosis" ], "HP:0010642": [ "midnasal stenosis", "midnasal atresia or stenosis" ], "HP:0010645": [ "aplasia of the distal phalanx of the toe", "aplasia of the distal phalanges of the toes", "absent outermost bone of the toe", "absent outermost bone of the toes" ], "HP:0010646": [ "cervical spine instability" ], "HP:0010647": [ "abnormal elasticity of skin" ], "HP:0010648": [ "dermal translucency", "translucent skin" ], "HP:0010649": [ "flat nasal ala", "flat nasal alae", "depress nasal ala", "depressed nasal alae", "flat nasal alar cartilage" ], "HP:0010650": [ "hypoplasia of the premaxilla", "decreased size of premaxilla", "decreased size of the primary palate bone", "hypoplasia of the intermaxillary bone", "hypoplasia of the primary palate bone", "premaxillary bone deficiency", "premaxillary bone retrusion", "premaxillary retrusion", "premaxillary underdevelopment", "primary palate bone deficiency", "primary palate bone retrusion", "small premaxilla", "small primary palate bone", "underdevelopment of premaxilla", "underdevelopment of the premaxilla", "underdevelopment of the primary palate bone" ], "HP:0010651": [ "abnormal meningeal morphology", "abnormality of the meninges" ], "HP:0010652": [ "abnormal dura mater morphology", "abnormality of the dura mater" ], "HP:0010653": [ "abnormality of the falx cerebri", "abnormality of the cerebral falx" ], "HP:0010654": [ "aplasia of the falx cerebri", "absent cerebral falx" ], "HP:0010655": [ "epiphyseal stipple", "epiphyseal stippling", "epiphyseal punctate calcification", "epiphyseal punctate calcifications", "speckled calcification in end part of bone", "speckled calcifications in end part of bone", "stipple epiphysis", "stippled epiphyses", "stippling of the epiphysis", "stippling of the epiphyses" ], "HP:0002658": [ "epiphyseal stipple", "epiphyseal stippling", "epiphyseal punctate calcification", "epiphyseal punctate calcifications", "speckled calcification in end part of bone", "speckled calcifications in end part of bone", "stipple epiphysis", "stippled epiphyses", "stippling of the epiphysis", "stippling of the epiphyses" ], "HP:0010586": [ "epiphyseal stipple", "epiphyseal stippling", "epiphyseal punctate calcification", "epiphyseal punctate calcifications", "speckled calcification in end part of bone", "speckled calcifications in end part of bone", "stipple epiphysis", "stippled epiphyses", "stippling of the epiphysis", "stippling of the epiphyses" ], "HP:0010656": [ "abnormal epiphyseal ossification", "abnormal maturation of the end part of a bone", "abnormality of the mineralisation or ossification of the epiphysis", "abnormality of the mineralisation or ossification of the epiphyses" ], "HP:0010657": [ "patchy reduction of bone mineral density" ], "HP:0010658": [ "patchy change of bone mineral density", "patchy changes of bone mineral density" ], "HP:0010659": [ "patchy variation in bone mineral density", "patchy increase and decrease bone mineral density", "patchy increased and decreased bone mineral density" ], "HP:0010660": [ "obsolete abnormal ossification of hand bone", "obsolete abnormal ossification of hand bones", "abnormal hand bone ossification", "abnormal maturation of the hand bone", "abnormal maturation of the hand bones", "abnormal ossification of hand bone", "abnormal ossification of hand bones", "abnormality of the mineralisation and ossification of bone of the hand", "abnormality of the mineralisation and ossification of bones of the hand" ], "HP:0010661": [ "absence of the third cerebral ventricle" ], "HP:0010662": [ "abnormality of the diencephalon" ], "HP:0010663": [ "abnormality of thalamus morphology", "abnormal shape of thalamus", "abnormality of the thalamus" ], "HP:0010664": [ "fusion of the left and right thalamus", "fusion of the left and right thalami", "fuse thalamus", "fused thalami", "fusion of thamali", "undivided thalamus", "undivided thalami" ], "HP:0010665": [ "bilateral coxa valga" ], "HP:0010666": [ "hypoplasia of the anterior nasal spine", "decreased length of anterior nasal spine", "decreased projection of anterior nasal spine", "decreased size of anterior nasal spine", "deficiency of anterior nasal spine", "hypotrophic anterior nasal spine", "small anterior nasal spine", "underdevelopment of anterior nasal spine" ], "HP:0010667": [ "aplasia of the maxilla", "absence of the maxilla", "absence of upper jaw bone", "absence of upper jaw bones", "agenesis of the maxilla", "aplasia of the upper jaw bone", "aplasia of the upper jaw bones", "failure of development of maxilla", "failure of development of upper jaw bone", "failure of development of upper jaw bones", "miss upper jaw bone", "missing upper jaw bones" ], "HP:0010668": [ "abnormality of the zygomatic bone", "abnormality of the cheekbone", "anomaly of the zygomatic bone", "deformity of the cheekbone", "deformity of the zygomatic bone", "malformation of the zygomatic bone" ], "HP:0010669": [ "hypoplasia of the zygomatic bone", "cheekbone underdevelopment", "decreased size of cheekbone", "decreased size of zygomatic bone", "depressed cheekbone", "depress zygomatic bone", "depressed zygomatic bone", "flattening of the zygomatic bone", "hypoplasia of cheekbone", "hypotrophic cheekbone", "hypotrophic zygomatic bone", "hypotrophy of the cheekbone", "hypotrophy of the zygomatic bone", "small cheekbone", "small malar bone", "small zygomatic bone", "underdevelopment of cheekbone", "underdevelopment of zygomatic bone" ], "HP:0010672": [ "abnormality of the third metatarsal bone", "abnormality of the 3rd long bone of foot" ], "HP:0010674": [ "abnormality of the curvature of the vertebral column", "abnormal curve of the backbone", "abnormal curve of the spine", "abnormal curving of the spine", "curvature of spine", "curve spine", "curved spine" ], "HP:0010675": [ "abnormal foot bone ossification", "abnormal maturation of foot bone", "abnormal maturation of foot bones", "abnormal ossification involve bone of the foot", "abnormal ossification involving bones of the feet", "abnormality of the mineralisation and ossification of bone of the foot", "abnormality of the mineralisation and ossification of bones of the feet" ], "HP:0008370": [ "abnormal foot bone ossification", "abnormal maturation of foot bone", "abnormal maturation of foot bones", "abnormal ossification involve bone of the foot", "abnormal ossification involving bones of the feet", "abnormality of the mineralisation and ossification of bone of the foot", "abnormality of the mineralisation and ossification of bones of the feet" ], "HP:0009133": [ "abnormal foot bone ossification", "abnormal maturation of foot bone", "abnormal maturation of foot bones", "abnormal ossification involve bone of the foot", "abnormal ossification involving bones of the feet", "abnormality of the mineralisation and ossification of bone of the foot", "abnormality of the mineralisation and ossification of bones of the feet" ], "HP:0010676": [ "mechanical ileus" ], "HP:0010677": [ "enuresis nocturna", "nocturnal enuresis" ], "HP:0010678": [ "enuresis diurna" ], "HP:0010679": [ "elevate tissue non - specific alkaline phosphatase", "elevated tissue non - specific alkaline phosphatase", "elevate alkaline phosphatase , liver / bone / kidney", "elevated alkaline phosphatase , liver / bone / kidney", "elevate tissue non - specific alp", "elevated tissue non - specific alp" ], "HP:0010680": [ "elevate alkaline phosphatase of renal origin", "elevated alkaline phosphatase of renal origin", "elevate alp of renal origin", "elevated alp of renal origin" ], "HP:0010681": [ "elevate intestinal alkaline phosphatase", "elevated intestinal alkaline phosphatase", "elevate intestinal alp", "elevated intestinal alp" ], "HP:0010682": [ "elevate placental alkaline phosphatase", "elevated placental alkaline phosphatase", "elevate placental alp", "elevated placental alp" ], "HP:0010683": [ "low tissue non - specific alkaline phosphatase", "low tissue non - specific alp" ], "HP:0010684": [ "low alkaline phosphatase of bone origin", "low alp of bone origin" ], "HP:0010685": [ "low alkaline phosphatase of renal origin", "low alp of renal origin" ], "HP:0010686": [ "low alkaline phosphatase of hepatic origin", "low alp of hepatic origin" ], "HP:0010687": [ "low intestinal alkaline phosphatase", "low intestinal alp" ], "HP:0010688": [ "low placental alkaline phosphatase", "low placental alp" ], "HP:0010689": [ "mirror image polydactyly", "mirror image duplication of digit", "mirror image duplication of digits" ], "HP:0010690": [ "mirror image hand polydactyly", "mirror image dupliction of finger", "mirror image dupliction of fingers" ], "HP:0010691": [ "mirror image foot polydactyly", "mirror image dupliction of toe", "mirror image dupliction of toes" ], "HP:0010692": [ "2 - 5 finger syndactyly", "web 2nd - 5th finger", "webbed 2nd - 5th fingers", "webbed index , middle and little finger", "webbed index , middle and pinkie finger", "webbed index , middle and pinky finger" ], "HP:0010693": [ "pulverulent cataract" ], "HP:0010694": [ "lamellar pulverulent cataract" ], "HP:0010695": [ "sutural cataract" ], "HP:0010696": [ "polar cataract" ], "HP:0010697": [ "anterior pyramidal cataract", "pyramidal cataract" ], "HP:0010698": [ "nuclear pulverulent cataract", "cataracta pulverulenta centralis", "central pulverulent cataract", "coppock - like cataract", "pulverulent nuclear cataract" ], "HP:0010699": [ "triangular nuclear cataract" ], "HP:0010701": [ "abnormal immunoglobulin level", "abnormal immunoglobulin concentration", "abnormal serum immunoglobulin concentration", "abnormal serum immunoglobulin level", "abnormal serum immunoglobulin levels", "abnormal serum level of immunoglobulin", "immunoglobulin abnormality" ], "HP:0100032": [ "abnormal immunoglobulin level", "abnormal immunoglobulin concentration", "abnormal serum immunoglobulin concentration", "abnormal serum immunoglobulin level", "abnormal serum immunoglobulin levels", "abnormal serum level of immunoglobulin", "immunoglobulin abnormality" ], "HP:0010702": [ "increase circulate antibody level", "increased circulating antibody level", "elevate immunoglobulin level", "elevated immunoglobulin levels", "hypergammaglobulinaemia", "hypergammaglobulinemia", "hyperglobulinemia", "increase antibody level in blood", "increased antibody level in blood", "increase gamma globulin", "increased gamma globulin", "increase immunoglobulin level", "increased immunoglobulin level", "increase serum gamma globulin", "increased serum gamma globulin", "raise immunoglobulin level", "raised immunoglobulin levels" ], "HP:0002852": [ "increase circulate antibody level", "increased circulating antibody level", "elevate immunoglobulin level", "elevated immunoglobulin levels", "hypergammaglobulinaemia", "hypergammaglobulinemia", "hyperglobulinemia", "increase antibody level in blood", "increased antibody level in blood", "increase gamma globulin", "increased gamma globulin", "increase immunoglobulin level", "increased immunoglobulin level", "increase serum gamma globulin", "increased serum gamma globulin", "raise immunoglobulin level", "raised immunoglobulin levels" ], "HP:0004314": [ "increase circulate antibody level", "increased circulating antibody level", "elevate immunoglobulin level", "elevated immunoglobulin levels", "hypergammaglobulinaemia", "hypergammaglobulinemia", "hyperglobulinemia", "increase antibody level in blood", "increased antibody level in blood", "increase gamma globulin", "increased gamma globulin", "increase immunoglobulin level", "increased immunoglobulin level", "increase serum gamma globulin", "increased serum gamma globulin", "raise immunoglobulin level", "raised immunoglobulin levels" ], "HP:0004435": [ "increase circulate antibody level", "increased circulating antibody level", "elevate immunoglobulin level", "elevated immunoglobulin levels", "hypergammaglobulinaemia", "hypergammaglobulinemia", "hyperglobulinemia", "increase antibody level in blood", "increased antibody level in blood", "increase gamma globulin", "increased gamma globulin", "increase immunoglobulin level", "increased immunoglobulin level", "increase serum gamma globulin", "increased serum gamma globulin", "raise immunoglobulin level", "raised immunoglobulin levels" ], "HP:0010704": [ "1 - 2 finger syndactyly", "web 1st - 2nd finger", "webbed 1st - 2nd finger", "web thumb and index finger", "webbed thumb and index finger" ], "HP:0010705": [ "4 - 5 finger syndactyly", "web 4th - 5th finger", "webbed 4th - 5th finger" ], "HP:0010706": [ "1 - 3 finger syndactyly", "web 1st - 3rd finger", "webbed 1st - 3rd finger" ], "HP:0010707": [ "1 - 4 finger syndactyly", "web 1st - 4th finger", "webbed 1st - 4th finger" ], "HP:0010708": [ "1 - 5 finger syndactyly", "web 1 - 5 finger", "webbed 1 - 5 fingers", "web 1st - 5th finger", "webbed 1st - 5th fingers" ], "HP:0010709": [ "2 - 4 finger syndactyly", "syndactyly of second to fourth finger", "syndactyly of second to fourth fingers", "webbed index through ring finger", "webbed index through ring fingers" ], "HP:0005797": [ "2 - 4 finger syndactyly", "syndactyly of second to fourth finger", "syndactyly of second to fourth fingers", "webbed index through ring finger", "webbed index through ring fingers" ], "HP:0006018": [ "2 - 4 finger syndactyly", "syndactyly of second to fourth finger", "syndactyly of second to fourth fingers", "webbed index through ring finger", "webbed index through ring fingers" ], "HP:0010710": [ "3 - 5 finger syndactyly", "webbed third , fourth and fifth toe", "webbed third , fourth and fifth toes" ], "HP:0010711": [ "1 - 2 toe syndactyly", "web 1st - 2nd toe", "webbed 1st - 2nd toes", "web first and second toe", "webbed first and second toes" ], "HP:0010712": [ "1 - 4 toe syndactyly", "web first through fourth toe", "webbed first through fourth toes" ], "HP:0010713": [ "1 - 5 toe syndactyly", "syndactyly of all toe", "syndactyly of all toes", "web 1st - 5th toe", "webbed 1st - 5th toes" ], "HP:0005812": [ "1 - 5 toe syndactyly", "syndactyly of all toe", "syndactyly of all toes", "web 1st - 5th toe", "webbed 1st - 5th toes" ], "HP:0010714": [ "2 - 4 toe syndactyly", "syndactyly of toe 2 , 3 and 4", "syndactyly of toes 2 , 3 and 4", "syndactyly toe 2 - 4", "syndactyly toes 2 - 4", "web 2nd - 4th toe", "webbed 2nd - 4th toes" ], "HP:0005642": [ "2 - 4 toe syndactyly", "syndactyly of toe 2 , 3 and 4", "syndactyly of toes 2 , 3 and 4", "syndactyly toe 2 - 4", "syndactyly toes 2 - 4", "web 2nd - 4th toe", "webbed 2nd - 4th toes" ], "HP:0005708": [ "2 - 4 toe syndactyly", "syndactyly of toe 2 , 3 and 4", "syndactyly of toes 2 , 3 and 4", "syndactyly toe 2 - 4", "syndactyly toes 2 - 4", "web 2nd - 4th toe", "webbed 2nd - 4th toes" ], "HP:0010715": [ "2 - 5 toe syndactyly", "web 2nd - 5th toe", "webbed 2nd - 5th toes" ], "HP:0010716": [ "3 - 5 toe syndactyly", "web 3rd - 5th toe", "webbed 3rd - 5th toes" ], "HP:0010717": [ "osseous syndactyly of toe", "osseous syndactyly of toes", "osseous syndactyly of the toe", "osseous syndactyly of the toes" ], "HP:0010719": [ "abnormality of hair texture", "abnormality of hair consistency", "abnormality of hair curl pattern", "abnormality of hair volume" ], "HP:0002295": [ "abnormality of hair texture", "abnormality of hair consistency", "abnormality of hair curl pattern", "abnormality of hair volume" ], "HP:0003776": [ "abnormality of hair texture", "abnormality of hair consistency", "abnormality of hair curl pattern", "abnormality of hair volume" ], "HP:0010720": [ "abnormal hair pattern", "abnormal distribution of hair" ], "HP:0010721": [ "abnormal hair whorl", "abnormal hair whorls", "abnormal whorl of hair" ], "HP:0010722": [ "asymmetry of the ear", "asymmetry of the ears", "asymmetric ear", "asymmetric ears" ], "HP:0010723": [ "cystic lesion of the pinna", "cystic lesions of the pinnae" ], "HP:0008557": [ "cystic lesion of the pinna", "cystic lesions of the pinnae" ], "HP:0010724": [ "advanced pneumatization of the mastoid process" ], "HP:0010726": [ "prominent corneal nerve fiber", "prominent corneal nerve fibers", "prominent corneal nerve fibre", "prominent corneal nerve fibres", "visible corneal nerve fiber", "visible corneal nerve fibers", "visible corneal nerve fibre", "visible corneal nerve fibres" ], "HP:0010727": [ "spontaneous rupture of the globe" ], "HP:0010728": [ "aplasia of the retina", "absent retina" ], "HP:0010729": [ "cherry red spot of the macula", "macular cherry red spot" ], "HP:0010730": [ "double eyebrow", "duplication of eyebrow" ], "HP:0010731": [ "extension of eyebrow towards upper eyelid", "extension of eyebrows towards upper eyelid" ], "HP:0010732": [ "nodular change affect the eyelid", "nodular changes affecting the eyelids", "eyelid nodule", "eyelid nodules" ], "HP:0010733": [ "naevus flammeus of the eyelid", "port - wine stain on eyelid" ], "HP:0010734": [ "fibrous dysplasia of the bone", "fibrous dysplasia of the bones" ], "HP:0010735": [ "polyostotic fibrous dysplasia" ], "HP:0010736": [ "monostotic fibrous dysplasia" ], "HP:0010739": [ "osteopoikilosis" ], "HP:0010740": [ "osteopathia striata" ], "HP:0010741": [ "pedal edema", "dependant edema", "dependant oedema", "edema of the low limb", "edema of the lower limbs", "fluid accumulation in low limb", "fluid accumulation in lower limbs", "leg edema", "leg oedema", "low leg swell", "lower leg swelling", "oedema of the low limb", "oedema of the lower limbs", "pedal oedema", "peripheral edema of low extremity", "peripheral edema of lower extremity", "peripheral oedema of low extremity", "peripheral oedema of lower extremity" ], "HP:0010742": [ "edema of the upper limb", "edema of the upper limbs", "fluid accumulation in upper limb", "fluid accumulation in upper limbs", "oedema of the upper limb", "oedema of the upper limbs" ], "HP:0010743": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0001779": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0001865": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0003092": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0004706": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0005754": [ "short metatarsal", "hypoplasia of the metatarsal bone", "hypoplasia of the metatarsal bones", "hypoplastic metatarsal", "hypoplastic metatarsals", "short long bone of foot", "short metatarsal bone", "short metatarsal bones", "short metatarsals", "shorten metatarsal", "shortened metatarsals" ], "HP:0010744": [ "absent metatarsal bone", "absent long bone of foot", "aplasia of the metatarsal bone", "aplasia of the metatarsal bones" ], "HP:0010745": [ "aplasia of the phalanx of the toe", "aplasia of the phalanges of the toes", "absent bone of the toe", "absent bones of the toes", "aphalangia of the toe", "aphalangia of the toes" ], "HP:0010746": [ "hypoplasia of the phalanx of the toe", "hypoplasia of the phalanges of the toes", "small toe bone", "small toe bones" ], "HP:0010747": [ "medial flaring of the eyebrow" ], "HP:0010748": [ "ectopic lacrimal punctum", "abnormal position of the lacrimal punctum" ], "HP:0010749": [ "blepharochalasis", "saggy upper eyelid skin" ], "HP:0010750": [ "dermatochalasis", "baggy eye", "baggy eyes", "droopy eyelid skin", "extra eyelid skin", "eyelid dermatochalasia", "hooding of eyelid", "hooding of eyelids", "redundant eyelid skin" ], "HP:0010751": [ "dimple chin", "chin butt", "chin dent", "chin dimple", "chin dimples", "chin skin dimple", "gelasin of chin", "indentation of chin" ], "HP:0010752": [ "cleft mandible", "cleft lower jaw", "mandibular cleft" ], "HP:0010753": [ "midline defect of mandible", "midline cleft of mandible" ], "HP:0010754": [ "abnormality of the temporomandibular joint", "abnormality of the jaw joint", "anomaly of the temporomandibular joint", "deformity of the jaw joint", "deformity of the temporomandibular joint", "derangement of the temporomandibular joint", "malformation of jaw joint", "malformation of the temporomandibular joint" ], "HP:0010755": [ "asymmetry of the maxilla", "asymmetry of right and leave side of the maxilla", "asymmetry of right and left side of the maxilla", "asymmetry of the upper jaw", "asymmetry of upper jaw", "cant maxilla", "canted maxilla", "cant upper jaw", "canted upper jaw", "crook maxilla", "crooked maxilla", "crook upper jaw", "crooked upper jaw", "deviation of the maxilla", "deviation of the upper jaw", "tilt maxilla", "tilted maxilla", "tilt upper jaw", "tilted upper jaw", "unequal side of maxilla", "unequal sides of maxilla", "uneven maxilla", "uneven upper jaw" ], "HP:0010756": [ "aplasia / hypoplasia of the premaxilla", "aplasia / hypoplasia of the intermaxillary bone", "aplasia / hypoplasia of the primary palate bone" ], "HP:0010757": [ "aplasia of the premaxilla", "absence of the intermaxillary bone", "absence of the premaxilla", "absence of the primary palate bone", "aplasia of the intermaxillary bone", "aplasia of the primary palate bone", "failure of development of premaxilla", "failure of development of the primary palate bone", "miss premaxilla", "missing premaxilla", "miss primary palate bone", "missing primary palate bone" ], "HP:0010758": [ "abnormality of the premaxilla", "abnormality of the intermaxillary bone", "abnormality of the intermaxillary segment of the maxilla", "abnormality of the premaxillary bone", "abnormality of the primary palate bone" ], "HP:0010759": [ "prominence of the premaxilla", "anterior position of the premaxilla", "anterior position of the primary palate bone", "premaxillary bone excess", "prominence of the intermaxillary bone", "prominence of the primary palate bone" ], "HP:0010760": [ "absent toe", "absent toes", "aplasia of the toe", "aplasia of the toes", "aplasia of toe" ], "HP:0008084": [ "absent toe", "absent toes", "aplasia of the toe", "aplasia of the toes", "aplasia of toe" ], "HP:0010108": [ "absent toe", "absent toes", "aplasia of the toe", "aplasia of the toes", "aplasia of toe" ], "HP:0011306": [ "absent toe", "absent toes", "aplasia of the toe", "aplasia of the toes", "aplasia of toe" ], "HP:0010761": [ "broad columella", "columella , broad", "columella , wide", "fullness of columella", "hyperplasia of columella", "increase width of columella", "increased width of columella" ], "HP:0010762": [ "chordoma" ], "HP:0010763": [ "low insertion of columella", "ala high than columella", "ala higher than columella", "columella , low insertion" ], "HP:0010764": [ "short eyelash", "short eyelashes", "decreased length of eyelash", "decreased length of eyelashes" ], "HP:0010765": [ "palmar hyperkeratosis" ], "HP:0010766": [ "ectopic calcification" ], "HP:0010767": [ "sacrococcygeal pilonidal abnormality" ], "HP:0010769": [ "pilonidal sinus", "pilonidal cyst" ], "HP:0010768": [ "pilonidal sinus", "pilonidal cyst" ], "HP:0010770": [ "pilonidal fistula" ], "HP:0010771": [ "pilonidal abscess", "sacrococcygeal fistula" ], "HP:0010772": [ "anomalous pulmonary venous return" ], "HP:0010773": [ "partial anomalous pulmonary venous return", "partial anomalous pulmonary venous connection" ], "HP:0010774": [ "cor triatriatum", "triatrial heart" ], "HP:0010775": [ "vascular ring", "vascular ring of aorta" ], "HP:0010776": [ "tracheobronchmegaly" ], "HP:0010777": [ "bronchomegaly" ], "HP:0010778": [ "tracheomegaly" ], "HP:0010779": [ "large pelvis bone", "large pelvis" ], "HP:0010780": [ "hyperacusis", "loudness intolerance", "sensitivity to noise" ], "HP:0010781": [ "skin dimple", "skin dimples" ], "HP:0010782": [ "shoulder dimple", "acromial dimple", "bi - acromial dimple", "bi - acromial dimples", "shoulder dimples" ], "HP:0010783": [ "erythema", "redness of skin or mucous membrane" ], "HP:0010784": [ "uterine neoplasm", "uterine cancer", "uterine neoplasia", "uterine tumor", "uterine tumour" ], "HP:0010785": [ "gonadal neoplasm", "gonadal neoplasia" ], "HP:0010786": [ "urinary tract neoplasm", "urinary tract neoplasia" ], "HP:0010787": [ "genital neoplasm", "genital neoplasia", "genital tumor", "genital tumour" ], "HP:0010788": [ "testicular neoplasm", "testicular cancer", "testicular neoplasia", "testicular tumor", "testicular tumour" ], "HP:0010789": [ "abnormality of the leydig cell", "abnormality of the leydig cells" ], "HP:0010790": [ "hyoplasia of the leydig cell", "hyoplasia of the leydig cells" ], "HP:0010791": [ "hyperplasia of the leydig cell", "hyperplasia of the leydig cells" ], "HP:0010793": [ "bifid nail", "duplicate nail", "duplicated nail", "notch nail", "notched nail" ], "HP:0010794": [ "impaired visuospatial constructive cognition" ], "HP:0010795": [ "cerebellar glioma" ], "HP:0010796": [ "brainstem glioma" ], "HP:0010797": [ "hemangioblastoma", "haemangioblastoma" ], "HP:0010798": [ "lip freckle", "ephelis of lip", "labial lentigo", "lip lentigo" ], "HP:0010799": [ "pinealoma" ], "HP:0010800": [ "absent cupid 's bow", "agenesis of cupid 's bow", "aplasia of cupid 's bow", "failure of development of cupid 's bow", "lack of cupid 's bow", "miss cupid 's bow", "missing cupid 's bow" ], "HP:0010801": [ "underdeveloped nasolabial fold", "flat nasolabial fold", "nasolabial crease , hypoplastic", "nasolabial crease , underdevelop", "nasolabial crease , underdeveloped", "nasolabial fold , hypoplastic", "shallow nasolabial fold" ], "HP:0010802": [ "perioral hyperpigmentation", "darkening of skin around the mouth", "increase pigmentation around the mouth", "increased pigmentation around the mouth" ], "HP:0010803": [ "evert upper lip vermilion", "everted upper lip vermilion", "droop upper lip", "drooping upper lip", "eclabium of upper lip", "evert prominent upper lip", "everted prominent upper lip", "evert upper lip", "everted upper lip", "outward turn upper lip", "outward turned upper lip", "protrude upper lip", "protruding upper lip" ], "HP:0010804": [ "tent upper lip vermilion", "tented upper lip vermilion", "invert v - shape upper lip", "inverted v - shaped upper lip", "tent mouth", "tented mouth", "tent upper lip", "tented upper lip" ], "HP:0100895": [ "tent upper lip vermilion", "tented upper lip vermilion", "invert v - shape upper lip", "inverted v - shaped upper lip", "tent mouth", "tented mouth", "tent upper lip", "tented upper lip" ], "HP:0010805": [ "upturned corner of mouth", "upturned corners of mouth", "upturned mouth", "upturned oral commisures" ], "HP:0010806": [ "u - shape upper lip vermilion", "u - shaped upper lip vermilion", "carp - like mouth", "carp - shape mouth", "carp - shaped mouth", "fish mouth", "large , carp - shape mouth", "large , carp - shaped mouth", "wide , carp - shape mouth", "wide , carp - shaped mouth" ], "HP:0000186": [ "u - shape upper lip vermilion", "u - shaped upper lip vermilion", "carp - like mouth", "carp - shape mouth", "carp - shaped mouth", "fish mouth", "large , carp - shape mouth", "large , carp - shaped mouth", "wide , carp - shape mouth", "wide , carp - shaped mouth" ], "HP:0010807": [ "open bite", "absence of overlap of upper and low teeth", "absence of overlap of upper and lower teeth", "open bite between upper and low teeth", "open bite between upper and lower teeth" ], "HP:0010808": [ "protrude tongue", "protruding tongue", "lingual prolapse", "lingual prominence", "lingual protrusion", "prolapse of tongue", "prominent tongue", "tongue protrusion", "tongue stick out of mouth", "tongue sticking out of mouth" ], "HP:0010809": [ "broad uvula", "wide uvula" ], "HP:0010810": [ "long uvula", "elongate uvula", "elongated uvula", "hyperplasia of uvula", "long palatine uvula" ], "HP:0010811": [ "narrow uvula", "narrow palatine uvula", "thin uvula" ], "HP:0010812": [ "short uvula", "blunt uvula", "hypoplastic uvula", "short palatine uvula" ], "HP:0010813": [ "abnormal number of hair whorl", "abnormal number of hair whorls", "abnormal number of hair swirl", "abnormal number of hair swirls", "double crown ( hair whorl )", "double crown ( hair whorls )", "extra hair swirl", "extra hair swirls", "extra hair whorl", "supernumary hair swirl", "supernumary hair swirls", "supernumary hair whorl" ], "HP:0010814": [ "abnormal position of hair whorl", "abnormal location of hair swirl" ], "HP:0010815": [ "nevus sebaceous", "naevus sebaceous", "organoid nevus", "sebaceous mole", "sebaceous naevus", "sebaceous nevus" ], "HP:0010816": [ "epidermal nevus", "epidermal nevi" ], "HP:0010817": [ "linear nevus sebaceous" ], "HP:0010818": [ "generalize tonic seizure", "generalized tonic seizure", "generalise hypertonic seizure", "generalised hypertonic seizure", "generalise tonic seizure", "generalised tonic seizure", "generalised tonic seizures", "generalize hypertonic seizure", "generalized hypertonic seizure", "generalized tonic seizures", "hypertonic seizure", "hypertonic seizures" ], "HP:0002184": [ "generalize tonic seizure", "generalized tonic seizure", "generalise hypertonic seizure", "generalised hypertonic seizure", "generalise tonic seizure", "generalised tonic seizure", "generalised tonic seizures", "generalize hypertonic seizure", "generalized hypertonic seizure", "generalized tonic seizures", "hypertonic seizure", "hypertonic seizures" ], "HP:0010819": [ "atonic seizure", "astatic seizure", "astatic seizures", "atonic seizures", "drop attack", "drop attacks", "drop seizure", "drop seizures", "hypotonic seizure", "hypotonic seizures", "sudden loss of muscle tone" ], "HP:0002124": [ "atonic seizure", "astatic seizure", "astatic seizures", "atonic seizures", "drop attack", "drop attacks", "drop seizure", "drop seizures", "hypotonic seizure", "hypotonic seizures", "sudden loss of muscle tone" ], "HP:0010820": [ "focal emotional seizure with cry", "focal emotional seizure with crying", "dacrystic seizure", "dacrystic seizures" ], "HP:0010821": [ "focal emotional seizure with laugh", "focal emotional seizure with laughing", "gelastic seizure", "gelastic seizures" ], "HP:0010822": [ "scintillate scotoma", "scintillating scotoma" ], "HP:0010823": [ "ridge cranial suture", "ridged cranial sutures", "cranial suture ridge", "cranial suture ridges" ], "HP:0010824": [ "abnormal fifth cranial nerve morphology", "abnormal trigeminal nerve morphology", "abnormality of the fifth cranial nerve", "abnormality of the nervus trigeminus" ], "HP:0010825": [ "abnormality of the eleventh cranial nerve", "abnormality of cranial nerve xi", "abnormality of the accessory nerve" ], "HP:0010826": [ "abnormality of the twelfth cranial nerve", "abnormality of cranial nerve 12", "abnormality of cranial nerve xii", "abnormality of the hypoglossal nerve" ], "HP:0010827": [ "abnormality of the seventh cranial nerve", "abnormality of the facial nerve" ], "HP:0010828": [ "hemifacial spasm", "hemifacial spasms", "spasm on one side of the face", "spasms on one side of the face" ], "HP:0010829": [ "obsolete impair thermal sensitivity", "obsolete impaired thermal sensitivity", "impaired temperature sensation", "abnormality of temperature sensation", "impaired thermal sensitivity", "loss of temperature sensation" ], "HP:0100772": [ "obsolete impair thermal sensitivity", "obsolete impaired thermal sensitivity", "impaired temperature sensation", "abnormality of temperature sensation", "impaired thermal sensitivity", "loss of temperature sensation" ], "HP:0010830": [ "impaired tactile sensation", "abnormal thigmesthesia", "impaired touch sensation", "loss of tactile sensation" ], "HP:0010831": [ "impaired proprioception", "abnormality of proprioception" ], "HP:0010870": [ "impaired proprioception", "abnormality of proprioception" ], "HP:0010832": [ "abnormality of pain sensation" ], "HP:0010833": [ "spontaneous pain sensation" ], "HP:0010834": [ "trophic change relate to pain", "trophic changes related to pain", "trophic change", "trophic changes" ], "HP:0010835": [ "dissociated sensory loss" ], "HP:0010836": [ "abnormal circulate copper concentration", "abnormal circulating copper concentration", "abnormal copper level", "abnormal copper levels" ], "HP:0010837": [ "decrease circulate ceruloplasmin concentration", "decreased circulating ceruloplasmin concentration", "decrease serum ceruloplasmin", "decreased serum ceruloplasmin", "decrease serum ceruloplasmina", "decreased serum ceruloplasmina", "hypoceruloplasminaemia", "hypoceruloplasminemia" ], "HP:0010838": [ "high nonceruloplasmin - bound serum copper" ], "HP:0010839": [ "increase urinary copper concentration", "increased urinary copper concentration" ], "HP:0010841": [ "multifocal epileptiform discharge", "multifocal epileptiform discharges", "multifocal eeg abnormality" ], "HP:0010843": [ "eeg with focal slow activity", "eeg : focal slow activity", "eeg : localised slow activity", "eeg : localized slow activity" ], "HP:0010844": [ "eeg with multifocal slow activity" ], "HP:0010845": [ "eeg with generalized slow activity", "eeg with generalised slow activity", "eeg : generalised slow activity", "eeg : generalized slow activity" ], "HP:0010846": [ "eeg with persistent abnormal rhythmic activity", "eeg : persistent abnormal rhythmic activity" ], "HP:0010847": [ "eeg with spike - wave complex ( < 2.5 hz )", "eeg with spike - wave complexes ( < 2.5 hz )", "electroencephalogram demonstrate spike - slow wave discharge", "electroencephalogram demonstrated spike - slow wave discharges" ], "HP:0010848": [ "eeg with spike - wave complex ( 2.5 - 3.5 hz )", "eeg with spike - wave complexes ( 2.5 - 3.5 hz )" ], "HP:0010849": [ "eeg with spike - wave complex ( > 3.5 hz )", "eeg with spike - wave complexes ( > 3.5 hz )", "eeg with 3 - 4 - hz spike wave", "eeg with 3 - 4 - hz spike waves" ], "HP:0007261": [ "eeg with spike - wave complex ( > 3.5 hz )", "eeg with spike - wave complexes ( > 3.5 hz )", "eeg with 3 - 4 - hz spike wave", "eeg with 3 - 4 - hz spike waves" ], "HP:0010850": [ "eeg with spike - wave complex", "eeg with spike - wave complexes" ], "HP:0010851": [ "eeg with burst suppression" ], "HP:0010852": [ "eeg with photoparoxysmal response", "photoparoxysmal response on eeg" ], "HP:0001330": [ "eeg with photoparoxysmal response", "photoparoxysmal response on eeg" ], "HP:0010853": [ "eeg with periodic lateralize epileptiform discharge", "eeg with periodic lateralized epileptiform discharges", "eeg : periodic lateralized epileptiform discharge", "eeg : periodic lateralized epileptiform discharges" ], "HP:0010854": [ "eeg with generalized low amplitude activity", "eeg with generalised low amplitude activity", "eeg : generalise low amplitude activity", "eeg : generalised low amplitude activity" ], "HP:0010855": [ "eeg with localized low amplitude activity", "eeg with localised low amplitude activity", "eeg : localise low amplitude activity", "eeg : localised low amplitude activity" ], "HP:0010856": [ "eeg with periodic complex", "eeg with periodic complexes", "eeg : periodic complex", "eeg : periodic complexes", "radermecker complex", "radermecker complexes" ], "HP:0010857": [ "eeg with periodic abnormality", "eeg with periodic abnormalities", "eeg : periodic abnormality", "eeg : periodic abnormalities" ], "HP:0010858": [ "eeg with hyperventilation - induced epileptiform discharge", "eeg with hyperventilation - induced epileptiform discharges" ], "HP:0010859": [ "frank breech presentation" ], "HP:0010860": [ "complete breech presentation" ], "HP:0010861": [ "incomplete breech presentation" ], "HP:0010862": [ "delay fine motor development", "delayed fine motor development" ], "HP:0010863": [ "receptive language delay" ], "HP:0010864": [ "intellectual disability , severe", "early and severe mental retardation", "mental retardation , severe", "severe mental retardation" ], "HP:0007196": [ "intellectual disability , severe", "early and severe mental retardation", "mental retardation , severe", "severe mental retardation" ], "HP:0010865": [ "oppositional defiant disorder" ], "HP:0010866": [ "abdominal wall defect", "congenital anterior abdominal wall defect" ], "HP:0010867": [ "dyssynergia" ], "HP:0010868": [ "ocular dyssynergia" ], "HP:0010869": [ "asynergia" ], "HP:0010871": [ "sensory ataxia", "afferent ataxia", "ataxia , sensory", "spinal ataxia" ], "HP:0010872": [ "t - wave inversion", "ekg : t - wave inversion" ], "HP:0010873": [ "cervical spinal cord atrophy" ], "HP:0010874": [ "tendon xanthomatosis", "tendon xanthoma", "tendon xanthomas" ], "HP:0010875": [ "chaddock reflex" ], "HP:0010876": [ "abnormal circulate protein concentration", "abnormal circulating protein concentration", "abnormal circulate protein level", "abnormal circulating protein level", "abnormality of circulate protein level", "abnormality of circulating protein level", "blood protein disease", "serum protein abnormality" ], "HP:0010877": [ "monocular strabismus", "unilateral strabismus" ], "HP:0010878": [ "fetal cystic hygroma", "foetal cystic hygroma" ], "HP:0010879": [ "postnatal cystic hygroma" ], "HP:0010880": [ "increase nuchal translucency", "increased nuchal translucency" ], "HP:0010881": [ "abnormality of the umbilical cord", "umbilical cord issue" ], "HP:0010882": [ "pulmonary valve atresia" ], "HP:0010883": [ "aortic valve atresia", "aortic atresia" ], "HP:0010884": [ "acromelia" ], "HP:0010885": [ "avascular necrosis", "aseptic bone necrosis", "aseptic necrosis", "bone infarction", "death of bone due to decreased blood supply", "ischaemic bone necrosis", "ischemic bone necrosis", "osteochondronecrosis", "osteonecrosis" ], "HP:0010886": [ "osteochondritis dissecans", "osteochondrosis dissecans" ], "HP:0010888": [ "morbus koehler" ], "HP:0010889": [ "morbus kienboeck", "kienboeck 's disease", "kienb\u00f6ck 's disease", "lunatomalacia" ], "HP:0010890": [ "morbus osgood - schlatter", "osgood schlatter disease" ], "HP:0010891": [ "morbus scheuermann", "calve disease", "juvenile osteochondrosis of the spine", "scheuermann disease", "scheuermann kyphosis", "sherman 's disease" ], "HP:0010892": [ "abnormal circulate branch chain amino acid concentration", "abnormal circulating branched chain amino acid concentration" ], "HP:0010893": [ "abnormal circulate phenylalanine concentration", "abnormal circulating phenylalanine concentration", "abnormality of phenylalanine metabolism" ], "HP:0010894": [ "abnormal circulate serine family amino acid concentration", "abnormal circulating serine family amino acid concentration", "abnormality of serine family amino acid metabolism" ], "HP:0010895": [ "abnormal circulate glycine concentration", "abnormal circulating glycine concentration" ], "HP:0010896": [ "hypersarcosinemia", "high plasma sarcosine level", "high plasma sarcosine levels" ], "HP:0010897": [ "hypersarcosinuria", "high urine sarcosine level", "high urine sarcosine levels" ], "HP:0010898": [ "abnormal circulate sarcosine concentration", "abnormal circulating sarcosine concentration" ], "HP:0010899": [ "abnormal circulate aspartate family amino acid concentration", "abnormal circulating aspartate family amino acid concentration" ], "HP:0010900": [ "abnormal circulate threonine concentration", "abnormal circulating threonine concentration", "abnormality of threonine metabolism" ], "HP:0010901": [ "abnormal circulate methionine concentration", "abnormal circulating methionine concentration", "abnormality of methionine metabolism" ], "HP:0010902": [ "abnormal circulate glutamine family amino acid concentration", "abnormal circulating glutamine family amino acid concentration" ], "HP:0010903": [ "abnormal circulate glutamine concentration", "abnormal circulating glutamine concentration" ], "HP:0010904": [ "abnormal circulate histidine concentration", "abnormal circulating histidine concentration", "abnormality of histidine metabolism" ], "HP:0010906": [ "hyperhistidinemia", "high blood histidine level", "histidinemia" ], "HP:0010907": [ "abnormal circulate proline concentration", "abnormal circulating proline concentration" ], "HP:0010908": [ "abnormal circulate lysine concentration", "abnormal circulating lysine concentration", "abnormality of lysine metabolism" ], "HP:0010909": [ "abnormal circulate arginine concentration", "abnormal circulating arginine concentration", "abnormality of arginine metabolism" ], "HP:0010910": [ "hypervalinemia", "high blood valine concentration" ], "HP:0010911": [ "hyperleucinemia", "high blood leucine concentration" ], "HP:0010912": [ "abnormal circulate isoleucine concentration", "abnormal circulating isoleucine concentration" ], "HP:0010913": [ "hyperisoleucinemia", "high blood isoleucine concentration" ], "HP:0010914": [ "abnormal circulate valine concentration", "abnormal circulating valine concentration", "abnormality of valine metabolism" ], "HP:0010915": [ "abnormal circulate pyruvate family amino acid concentration", "abnormal circulating pyruvate family amino acid concentration", "abnormality of pyruvate family amino acid metabolism" ], "HP:0010916": [ "abnormal circulate alanine concentration", "abnormal circulating alanine concentration", "abnormality of alanine metabolism" ], "HP:0010917": [ "abnormal circulate tyrosine concentration", "abnormal circulating tyrosine concentration" ], "HP:0010918": [ "abnormal circulate cysteine concentration", "abnormal circulating cysteine concentration" ], "HP:0010919": [ "abnormal circulate homocysteine concentration", "abnormal circulating homocysteine concentration" ], "HP:0010920": [ "obsolete juvenile zonular cataract", "obsolete juvenile zonular cataracts", "zonular cataract" ], "HP:0010921": [ "coralliform cataract" ], "HP:0010922": [ "membranous cataract" ], "HP:0010923": [ "anterior subcapsular cataract" ], "HP:0010924": [ "posterior cortical cataract" ], "HP:0010925": [ "nuclear punctate cataract" ], "HP:0010926": [ "aculeiform cataract", "fasciculiform cataract", "frost cataract", "frosted cataract", "needle - shape cataract", "needle - shaped cataract" ], "HP:0010927": [ "abnormal blood inorganic cation concentration", "abnormality of divalent inorganic cation homeostasis" ], "HP:0010929": [ "abnormal blood cation concentration", "abnormality of cation homeostasis" ], "HP:0010930": [ "abnormal blood monovalent inorganic cation concentration", "abnormality of monovalent inorganic cation homeostasis" ], "HP:0010931": [ "abnormal blood sodium concentration", "abnormal blood na+ level", "abnormal blood na+ levels", "abnormal circulate na concentration", "abnormal circulating na concentration", "abnormality of sodium homeostasis" ], "HP:0010932": [ "abnormal circulate nucleobase concentration", "abnormal circulating nucleobase concentration", "abnormal nucleoside level", "abnormal nucleoside levels" ], "HP:0010933": [ "hyperxanthinemia" ], "HP:0010934": [ "xanthinuria", "increase urinary xanthine", "increased urinary xanthine" ], "HP:0010935": [ "abnormality of the upper urinary tract" ], "HP:0010936": [ "abnormality of the low urinary tract", "abnormality of the lower urinary tract" ], "HP:0010937": [ "abnormality of the nasal skeleton", "anomaly of the nasal skeleton", "deformity of the bone of the nose", "deformity of the bones of the nose", "deformity of the nasal skeleton", "distortion of the bone of the nose", "distortion of the bones of the nose", "distortion of the nasal skeleton", "malformation of the bone of the nose", "malformation of the bones of the nose", "malformation of the nasal skeleton" ], "HP:0010938": [ "abnormality of the external nose", "anomaly of the external nose", "deformity of the external nose", "malformation of the external nose" ], "HP:0010939": [ "abnormality of the nasal bone", "anomaly of the nasal bone", "anomaly of the nasal bones", "deformity of the nasal bone", "deformity of the nasal bones", "malformation of the nasal bone", "malformation of the nasal bones" ], "HP:0010940": [ "aplasia / hypoplasia of the nasal bone" ], "HP:0010941": [ "aplasia of the nasal bone", "absence of the nasal bone", "agenesis of the nasal bone", "failure of development of the nasal bone", "lack of development of the nasal bone", "miss nasal bone", "missing nasal bone" ], "HP:0010942": [ "echogenic intracardiac focus" ], "HP:0010943": [ "echogenic fetal bowel", "echogenic bowel", "echogenic foetal bowel" ], "HP:0010944": [ "abnormal renal pelvis morphology", "abnormality of the renal pelvis" ], "HP:0010945": [ "fetal pyelectasis", "fetal renal pelvic dilatation", "foetal pyelectasis", "foetal renal pelvic dilatation", "mild fetal hydronephrosis", "mild foetal hydronephrosis" ], "HP:0010946": [ "dilatation of the renal pelvis" ], "HP:0010947": [ "abnormality of ductus venosus blood flow" ], "HP:0010948": [ "abnormality of the fetal cardiovascular system", "abnormality of the fetal circulation system", "abnormality of the foetal cardiovascular system", "abnormality of the foetal circulation system" ], "HP:0010949": [ "abnormality of umbilical vein blood flow" ], "HP:0010950": [ "abnormal fourth ventricle morphology", "abnormality of the fourth ventricle" ], "HP:0010951": [ "abnormal third ventricle morphology", "abnormality of the third ventricle" ], "HP:0010952": [ "mild fetal ventriculomegaly", "mild foetal ventriculomegaly" ], "HP:0010953": [ "noncommunicating hydrocephalus" ], "HP:0010954": [ "hypoplastic right heart", "hypoplastic right heart syndrome", "underdeveloped right heart" ], "HP:0010955": [ "dilatation of the bladder" ], "HP:0010956": [ "fetal megacystis", "foetal megacystis" ], "HP:0010957": [ "congenital posterior urethral valve", "posterior urethral valve", "posterior urethral valves" ], "HP:0010958": [ "bilateral renal agenesis" ], "HP:0010959": [ "congenital cystic adenomatoid malformation of the lung", "congenital cystic disease of the lung", "cystic adenomatoid lung disease" ], "HP:0006540": [ "congenital cystic adenomatoid malformation of the lung", "congenital cystic disease of the lung", "cystic adenomatoid lung disease" ], "HP:0006545": [ "congenital cystic adenomatoid malformation of the lung", "congenital cystic disease of the lung", "cystic adenomatoid lung disease" ], "HP:0010960": [ "bronchopulmonary sequestration" ], "HP:0010961": [ "intralobar sequestration" ], "HP:0010962": [ "extralobar sequestration" ], "HP:0010963": [ "absence of stomach bubble on fetal sonography", "absence of stomach bubble on foetal sonography" ], "HP:0010964": [ "abnormal circulate long - chain fatty - acid concentration", "abnormal circulating long - chain fatty - acid concentration" ], "HP:0010965": [ "abnormal circulate phytanic acid concentration", "abnormal circulating phytanic acid concentration", "abnormal circulate phytanic acid level", "abnormal circulating phytanic acid level" ], "HP:0010966": [ "abnormal circulate fatty - acid anion concentration", "abnormal circulating fatty - acid anion concentration", "abnormality of fatty acid anion" ], "HP:0010967": [ "abnormal circulate carnitine concentration", "abnormal circulating carnitine concentration", "carnitine level abnormal", "carnitine levels abnormal" ], "HP:0010968": [ "abnormality of liposaccharide metabolism" ], "HP:0010969": [ "abnormality of glycolipid metabolism" ], "HP:0010970": [ "blood group antigen abnormality" ], "HP:0010971": [ "absence of lutheran antigen on erythrocyte", "absence of lutheran antigen on erythrocytes" ], "HP:0010972": [ "anemia of inadequate production", "anaemia of inadequate production", "anemia , dyserythropoietic", "defective erythropoiesis", "dyserythropoietic anaemia", "dyserythropoietic anemia", "ineffective erythropoiesis" ], "HP:0005501": [ "anemia of inadequate production", "anaemia of inadequate production", "anemia , dyserythropoietic", "defective erythropoiesis", "dyserythropoietic anaemia", "dyserythropoietic anemia", "ineffective erythropoiesis" ], "HP:0005504": [ "anemia of inadequate production", "anaemia of inadequate production", "anemia , dyserythropoietic", "defective erythropoiesis", "dyserythropoietic anaemia", "dyserythropoietic anemia", "ineffective erythropoiesis" ], "HP:0005553": [ "anemia of inadequate production", "anaemia of inadequate production", "anemia , dyserythropoietic", "defective erythropoiesis", "dyserythropoietic anaemia", "dyserythropoietic anemia", "ineffective erythropoiesis" ], "HP:0010974": [ "abnormal myeloid leukocyte morphology", "abnormality of myeloid leukocyte", "abnormality of myeloid leukocytes" ], "HP:0010975": [ "abnormal b cell count", "abnormal number of b cell", "abnormal number of b cells", "abnormal numbers of b cells", "abnormality of b cell count", "abnormality of b cell number", "abnormality of b cell numbers" ], "HP:0010976": [ "b lymphocytopenia", "b cell deficiency", "b cell lymphopenia", "decrease b cell count", "decreased b cell count", "low b cell count", "reduction in b cell number" ], "HP:0002956": [ "b lymphocytopenia", "b cell deficiency", "b cell lymphopenia", "decrease b cell count", "decreased b cell count", "low b cell count", "reduction in b cell number" ], "HP:0010977": [ "abnormal phagocytosis" ], "HP:0010978": [ "abnormality of immune system physiology" ], "HP:0010979": [ "abnormality of lipoprotein cholesterol concentration", "abnormality of the level of lipoprotein cholesterol" ], "HP:0010980": [ "hyperlipoproteinemia" ], "HP:0010981": [ "hypolipoproteinemia", "lack of fat in blood" ], "HP:0010982": [ "polygenic inheritance" ], "HP:0010983": [ "oligogenic inheritance" ], "HP:0010984": [ "digenic inheritance" ], "HP:0010985": [ "gonosomal inheritance" ], "HP:0010987": [ "abnormal cellular immune system morphology" ], "HP:0010988": [ "abnormality of the extrinsic pathway" ], "HP:0010989": [ "abnormality of the intrinsic pathway" ], "HP:0010990": [ "abnormality of the common coagulation pathway" ], "HP:0010991": [ "abnormal morphology of the abdominal musculature", "abnormality of the abdominal musculature" ], "HP:0010992": [ "stress urinary incontinence" ], "HP:0010993": [ "abnormality of the cerebral subcortex", "abnormality of the cerebral medulla" ], "HP:0010994": [ "abnormal corpus striatum morphology", "abnormality of the neostriatum", "abnormality of the striate nucleus", "abnormality of the striatum" ], "HP:0010995": [ "abnormal circulate dicarboxylic acid concentration", "abnormal circulating dicarboxylic acid concentration" ], "HP:0010996": [ "abnormal circulate monocarboxylic acid cocentration", "abnormal circulating monocarboxylic acid cocentration" ], "HP:0010997": [ "chromosomal breakage induce by ionize radiation", "chromosomal breakage induced by ionizing radiation", "chromosomal breakage induce by ionise radiation", "chromosomal breakage induced by ionising radiation", "increase cellular radiosensitivity", "increased cellular radiosensitivity", "radiation - induced chromosome instability" ], "HP:0010998": [ "increase susceptibility to spontaneous sister chromatid exchange", "increased susceptibility to spontaneous sister chromatid exchange" ], "HP:0010999": [ "aplasia of the optic tract", "absent optic tract" ], "HP:0011000": [ "aplasia / hypoplasia of the optic tract", "absent / small optic tract", "absent / underdevelop optic tract", "absent / underdeveloped optic tract" ], "HP:0011001": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0002796": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0004350": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0005711": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0005741": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0010738": [ "increase bone mineral density", "increased bone mineral density", "increase bone density", "increased bone density", "osteosclerosis", "osteosclerosis of bone", "osteosclerosis of bones" ], "HP:0011002": [ "osteopetrosis", "albers - schoenberg disease", "albers - schonberg disease", "albers - sch\u00f6nberg disease", "harder , denser , fracture - prone bone", "harder , denser , fracture - prone bones", "marble bone disease" ], "HP:0011003": [ "high myopia", "severe myopia", "severe myopia ( > - 6.00 diopter )", "severe myopia ( > - 6.00 diopters )", "severe near sightedness", "severely close sighted", "severely near sight", "severely near sighted" ], "HP:0000569": [ "high myopia", "severe myopia", "severe myopia ( > - 6.00 diopter )", "severe myopia ( > - 6.00 diopters )", "severe near sightedness", "severely close sighted", "severely near sight", "severely near sighted" ], "HP:0011004": [ "obsolete abnormality of the peripheral artery", "obsolete abnormalities of the peripheral arteries", "abnormal systemic arterial morphology", "abnormal systemic artery morphology", "abnormality of the systemic arterial tree", "arterial abnormality", "arterial abnormalities", "systemic artery abnormality" ], "HP:0002620": [ "abnormal systemic arterial morphology", "abnormal systemic artery morphology", "abnormality of the systemic arterial tree", "arterial abnormality", "arterial abnormalities", "systemic artery abnormality" ], "HP:0011005": [ "mixed cirrhosis" ], "HP:0011006": [ "abnormal morphology of the musculature of the neck", "abnormality of cervical musculature", "abnormality of the musculature of the neck", "neck muscle issue" ], "HP:0011008": [ "temporal pattern", "speed of onset" ], "HP:0011009": [ "acute", "acute onset" ], "HP:0011010": [ "chronic" ], "HP:0011011": [ "subacute" ], "HP:0011012": [ "abnormal circulate polysaccharide concentration", "abnormal circulating polysaccharide concentration" ], "HP:0011013": [ "abnormal circulate carbohydrate concentration", "abnormal circulating carbohydrate concentration" ], "HP:0011014": [ "abnormal glucose homeostasis" ], "HP:0011015": [ "abnormal blood glucose concentration", "abnormality of blood glucose concentration" ], "HP:0011017": [ "abnormal cellular physiology", "abnormality of cell physiology", "obsolete abnormal cellular physiology" ], "HP:0025462": [ "abnormal cellular physiology", "abnormality of cell physiology", "obsolete abnormal cellular physiology" ], "HP:0011018": [ "abnormality of the cell cycle" ], "HP:0011019": [ "abnormality of chromosome condensation" ], "HP:0011020": [ "abnormality of mucopolysaccharide metabolism" ], "HP:0011021": [ "abnormality of circulate enzyme level", "abnormality of circulating enzyme level" ], "HP:0011022": [ "abnormal circulating unsaturated fatty acid concentration" ], "HP:0011023": [ "abnormal circulate prostaglandin circulation", "abnormal circulating prostaglandin circulation" ], "HP:0011024": [ "abnormality of the gastrointestinal tract", "abnormality of the gi tract", "digestive system disease", "gastrointestinal disease" ], "HP:0011025": [ "abnormal cardiovascular system physiology", "abnormality of cardiovascular system physiology" ], "HP:0011026": [ "aplasia / hypoplasia of the vagina", "absent / small vagina", "absent / underdevelop vagina", "absent / underdeveloped vagina" ], "HP:0011027": [ "abnormal fallopian tube morphology", "abnormality of the fallopian tube" ], "HP:0011028": [ "abnormality of blood circulation", "blood circulation disorder" ], "HP:0011029": [ "internal hemorrhage", "internal bleeding", "internal haemorrhage" ], "HP:0011030": [ "abnormal blood transition element cation concentration", "abnormality of transition element cation homeostasis" ], "HP:0011031": [ "abnormality of iron homeostasis" ], "HP:0011032": [ "abnormality of fluid regulation", "fluid imbalance" ], "HP:0011033": [ "impairment of fructose metabolism" ], "HP:0011034": [ "amyloidosis", "amyloid disease" ], "HP:0011035": [ "abnormal renal cortex morphology", "abnormality of renal cortex morphology" ], "HP:0011036": [ "abnormality of renal excretion" ], "HP:0011037": [ "decrease urine output", "decreased urine output" ], "HP:0011038": [ "abnormal renal resorption", "abnormality of renal resorption" ], "HP:0011039": [ "abnormality of the helix", "abnormal helix", "abnormal helices", "helix abnormal" ], "HP:0000380": [ "abnormality of the helix", "abnormal helix", "abnormal helices", "helix abnormal" ], "HP:0011040": [ "abnormality of the intrahepatic bile duct" ], "HP:0011041": [ "aplasia / hypoplasia of the cervical spine", "absent / small cervical spine", "absent / underdevelop cervical spine", "absent / underdeveloped cervical spine" ], "HP:0011042": [ "abnormal blood potassium concentration", "abnormal blood k concentration", "abnormality of potassium homeostasis" ], "HP:0011043": [ "abnormality of circulate adrenocorticotropin level", "abnormality of circulating adrenocorticotropin level", "abnormality of circulate acth level", "abnormality of circulating acth level", "abnormality of circulate adrenocorticotropic hormone level", "abnormality of circulating adrenocorticotropic hormone level", "abnormality of circulate corticotropin level", "abnormality of circulating corticotropin level" ], "HP:0011044": [ "abnormal number of permanent teeth", "abnormal complement of permanent teeth", "abnormal number of adult teeth", "abnormal number of secondary dentition", "abnormal permanent tooth count" ], "HP:0011045": [ "agenesis of permanent maxillary central incisor", "absence of permanent maxillary central incisor", "absence of permanent upper central incisor", "absence of permanent upper front tooth", "agenesis of adult maxillary central incisor", "failure of development of permanent maxillary central incisor", "miss adult upper central incisor", "missing adult upper central incisor", "miss permanent maxillary central incisor", "missing permanent maxillary central incisor", "miss permanent upper central incisor", "missing permanent upper central incisor", "miss permanent upper front tooth", "missing permanent upper front tooth" ], "HP:0011046": [ "agenesis of primary maxillary central incisor", "absence of deciduous maxillary central incisor", "absence of primary maxillary central incisor", "absence of upper front baby tooth", "agenesis of deciduous maxillary central incisor", "failure of development of deciduous maxillary central incisor", "failure of development of primary maxillary central incisor", "miss deciduous maxillary central incisor", "missing deciduous maxillary central incisor", "miss primary maxillary central incisor", "missing primary maxillary central incisor", "miss upper front baby tooth", "missing upper front baby tooth", "miss upper front milk tooth", "missing upper front milk tooth" ], "HP:0011047": [ "agenesis of primary mandibular central incisor", "absence of deciduous mandibular central incisor", "absence of primary mandibular central incisor", "agenesis of deciduous low central incisor", "agenesis of deciduous lower central incisor", "agenesis of primary low central incisor", "agenesis of primary lower central incisor", "failure of development of deciduous mandibular central incisor", "failure of development of primary mandibular central incisor", "miss deciduous mandibular central incisor", "missing deciduous mandibular central incisor", "miss low central incisor milk tooth", "missing lower central incisor milk tooth", "miss low front baby tooth", "missing lower front baby tooth", "miss low front milk tooth", "missing lower front milk tooth", "miss low front primary tooth", "missing lower front primary tooth", "miss primary mandibular central incisor", "missing primary mandibular central incisor" ], "HP:0011048": [ "agenesis of permanent mandibular central incisor", "absence of permanent low central incisor", "absence of permanent lower central incisor", "absence of permanent low front tooth", "absence of permanent lower front tooth", "absence of permanent mandibular central incisor", "agenesis of adult mandibular central incisor", "failure of development of permanent mandibular central incisor", "miss adult lower central incisor", "missing adult lower central incisor", "miss permanent low central incisor", "missing permanent lower central incisor", "miss permanent low front tooth", "missing permanent lower front tooth", "miss permanent mandibular central incisor", "missing permanent mandibular central incisor" ], "HP:0011049": [ "agenesis of primary maxillary lateral incisor", "absence of deciduous maxillary lateral incisor", "absence of primary maxillary lateral incisor", "agenesis of deciduous maxillary lateral incisor", "failure of development of deciduous maxillary lateral incisor", "failure of development of primary maxillary lateral incisor", "miss deciduous maxillary lateral incisor", "missing deciduous maxillary lateral incisor", "miss primary maxillary lateral incisor", "missing primary maxillary lateral incisor" ], "HP:0011050": [ "agenesis of permanent maxillary lateral incisor", "absence of permanent maxillary lateral incisor", "agenesis of permanent upper lateral incisor", "failure of development of permanent maxillary lateral incisor", "failure of development of permanent upper lateral incisor", "miss permanent maxillary lateral incisor", "missing permanent maxillary lateral incisor", "miss permanent upper lateral incisor", "missing permanent upper lateral incisor" ], "HP:0011051": [ "agenesis of premolar", "absence of bicuspid", "absence of premolar", "agenesis of bicuspid", "failure of development of bicuspid", "failure of development of premolar", "miss bicuspid", "missing bicuspid", "miss premolar", "missing premolar" ], "HP:0011052": [ "agenesis of maxillary premolar", "absence of maxillary bicuspid", "absence of maxillary premolar", "absence of upper premolar", "agenesis of maxillary bicuspid", "failure of development of maxillary bicuspid", "failure of development of maxillary premolar", "miss maxillary premolar", "missing maxillary premolar", "miss upper bicuspid", "missing upper bicuspid", "miss upper premolar", "missing upper premolar" ], "HP:0011053": [ "agenesis of mandibular premolar", "absence of low premolar", "absence of lower premolar", "absence of mandibular premolar", "failure of development of mandibular premolar", "miss low premolar", "missing lower premolar", "miss mandibular premolar", "missing mandibular premolar" ], "HP:0011054": [ "agenesis of molar", "absence of molar", "absent molar", "absent molars", "failure of development of molar", "miss molar", "missing molar" ], "HP:0011055": [ "agenesis of permanent molar", "absence of adult molar", "absence of permanent molar", "agenesis of secondary molar", "failure of development of permanent molar", "failure of development of secondary molar", "miss adult molar", "missing adult molar", "miss permanent molar", "missing permanent molar" ], "HP:0011056": [ "agenesis of first permanent molar tooth", "absence of first permanent molar", "absence of six year molar", "agenesis of six year molar", "failure of development of first permanent molar", "failure of development of six year molar", "miss first permanent molar", "missing first permanent molar", "miss six year molar", "missing six year molar" ], "HP:0011057": [ "agenesis of second permanent molar", "absence of second permanent molar", "absence of twelve year molar", "agenesis of twelve year molar", "failure of development of second permanent molar", "failure of development of twelve year molar", "miss second permanent molar", "missing second permanent molar", "miss twelve year molar", "missing twelve year molar" ], "HP:0011058": [ "generalize periodontitis", "generalized periodontitis", "generalise gum disease", "generalised gum disease", "generalise periodontal disease", "generalised periodontal disease", "generalise periodontitis", "generalised periodontitis", "generalize gum disease", "generalized gum disease", "generalize periodontal disease", "generalized periodontal disease", "widespread gum disease" ], "HP:0011059": [ "localize periodontitis", "localized periodontitis", "limited area of gum disease", "localise gum disease", "localised gum disease", "localise periodontal disease", "localised periodontal disease", "localise periodontitis", "localised periodontitis", "localize gum disease", "localized gum disease", "localize periodontal disease", "localized periodontal disease" ], "HP:0011060": [ "dentinogenesis imperfecta limit to primary teeth", "dentinogenesis imperfecta limited to primary teeth", "dentinogenesis imperfecta of baby teeth" ], "HP:0011061": [ "abnormality of dental structure", "abnormality of tooth part", "abnormality of tooth structure" ], "HP:0011062": [ "misalignment of incisor", "misalignment of incisors", "abnormality of alignment of incisor", "abnormality of alignment of incisors", "abnormality of position of incisor", "abnormality of position of incisors", "crook front teeth", "crooked front teeth", "crook incisor", "crooked incisors", "malposition of incisor", "malposition of incisors" ], "HP:0011063": [ "abnormal incisor morphology", "abnormality of incisor morphology", "abnormality of shape of incisor" ], "HP:0011064": [ "abnormal number of incisor", "abnormal number of incisors", "abnormal number of front teeth" ], "HP:0011065": [ "conical incisor", "cone shape front tooth", "cone shaped front tooth", "conoid incisor", "peg shape front tooth", "peg shaped front tooth", "peg shape incisor", "peg shaped incisors", "peg - shaped incisor", "peg - shaped incisors", "point front tooth", "pointed front tooth", "point incisor", "pointed incisor", "shark tooth incisor" ], "HP:0000673": [ "conical incisor", "cone shape front tooth", "cone shaped front tooth", "conoid incisor", "peg shape front tooth", "peg shaped front tooth", "peg shape incisor", "peg shaped incisors", "peg - shaped incisor", "peg - shaped incisors", "point front tooth", "pointed front tooth", "point incisor", "pointed incisor", "shark tooth incisor" ], "HP:0006345": [ "conical incisor", "cone shape front tooth", "cone shaped front tooth", "conoid incisor", "peg shape front tooth", "peg shaped front tooth", "peg shape incisor", "peg shaped incisors", "peg - shaped incisor", "peg - shaped incisors", "point front tooth", "pointed front tooth", "point incisor", "pointed incisor", "shark tooth incisor" ], "HP:0011066": [ "conical incisor", "cone shape front tooth", "cone shaped front tooth", "conoid incisor", "peg shape front tooth", "peg shaped front tooth", "peg shape incisor", "peg shaped incisors", "peg - shaped incisor", "peg - shaped incisors", "point front tooth", "pointed front tooth", "point incisor", "pointed incisor", "shark tooth incisor" ], "HP:0011067": [ "mesiodens", "extra tooth", "extra tooth in the midline", "median supernumary tooth", "mesiodentes", "midline supernumary tooth" ], "HP:0011068": [ "odontoma", "odontomas" ], "HP:0011069": [ "supernumerary tooth", "extra teeth", "hyperdontia", "increased number of teeth", "increase tooth count", "increased tooth count", "more teeth than normal", "supernumary dentition", "supernumary teeth", "supernumerary teeth", "supplemental dentition", "supplemental teeth", "tooth , supernumerary" ], "HP:0000672": [ "supernumerary tooth", "extra teeth", "hyperdontia", "increased number of teeth", "increase tooth count", "increased tooth count", "more teeth than normal", "supernumary dentition", "supernumary teeth", "supernumerary teeth", "supplemental dentition", "supplemental teeth", "tooth , supernumerary" ], "HP:0011070": [ "abnormal molar morphology", "abnormal shape of molar tooth", "abnormality of molar morphology" ], "HP:0011071": [ "abnormality of permanent molar morphology", "abnormality of shape of adult molar", "abnormality of shape of permanent molar" ], "HP:0011072": [ "rootless teeth", "absence of tooth root", "agenesis of tooth root", "aplasia of tooth root", "miss tooth root", "missing tooth root", "teeth without root", "teeth without roots", "tooth with dentin dysplasia type i" ], "HP:0011073": [ "abnormality of dental color", "abnormality of dental colour", "abnormality of dental shade", "abnormality of tooth color", "abnormality of tooth colour", "abnormality of tooth shade" ], "HP:0011074": [ "localized hypoplasia of dental enamel", "localised dysplasia of tooth enamel", "localised hypoplasia of dental enamel", "localised hypoplasia of tooth enamel", "localized dysplasia of tooth enamel", "localized hypoplasia of tooth enamel" ], "HP:0011075": [ "green teeth", "green color teeth", "green colored teeth", "green colour teeth", "green coloured teeth", "green tooth shade" ], "HP:0011076": [ "abnormality of premolar", "abnormality of bicuspid" ], "HP:0011077": [ "abnormality of molar" ], "HP:0011078": [ "abnormality of canine", "abnormality of eye tooth" ], "HP:0011079": [ "impact tooth", "impacted tooth", "bury tooth", "buried tooth", "retain tooth", "retained tooth" ], "HP:0011080": [ "abnormal premolar morphology", "abnormality of bicuspid morphology", "abnormality of premolar morphology", "abnormality of shape of bicuspid", "abnormality of shape of premolar" ], "HP:0011081": [ "incisor macrodontia", "hyperplasia of incisor", "hypertrophy of incisor", "increase size of incisor", "increased size of incisor", "increase width of incisor", "increased width of incisor", "large incisor" ], "HP:0011082": [ "conical primary incisor", "cone shape front baby tooth", "cone shaped front baby tooth", "conical deciduous incisor", "conoid primary incisor", "peg shape front baby tooth", "peg shaped front baby tooth", "peg shape primary incisor", "peg shaped primary incisor", "point front baby tooth", "pointed front baby tooth", "point primary incisor", "pointed primary incisor", "primary front shark tooth" ], "HP:0011083": [ "conical maxillary incisor", "cone shape maxillary incisor", "cone shaped maxillary incisor", "cone shape upper front tooth", "cone shaped upper front tooth", "conoid maxillary incisor", "peg shape upper front tooth", "peg shaped upper front tooth", "point maxillary incisor", "pointed maxillary incisor", "point upper front tooth", "pointed upper front tooth", "upper front shark tooth" ], "HP:0011084": [ "hypocalcification of dental enamel", "decrease enamel calcification", "decreased enamel calcification", "poorly calcify tooth enamel", "poorly calcified tooth enamel" ], "HP:0011085": [ "hypomature dental enamel", "immature tooth enamel", "soft teeth", "soft tooth enamel" ], "HP:0011086": [ "dentinogenesis imperfecta of primary and permanent teeth", "dentinogenesis imperfecta of adult and baby teeth", "dentinogenesis imperfecta of both set of teeth", "dentinogenesis imperfecta of both sets of teeth" ], "HP:0011087": [ "talon cusp", "den evaginatus", "dens evaginatus", "extra cusp on inside of front tooth", "talon cusps" ], "HP:0011088": [ "den in dente", "dens in dente", "den invaginatus", "dens invaginatus", "tooth within a tooth" ], "HP:0011089": [ "double tooth", "conjoin teeth", "conjoined teeth", "teeth , double", "twin tooth", "twinning tooth" ], "HP:0011090": [ "fuse teeth", "fused teeth", "fusion of teeth", "join teeth", "joined teeth" ], "HP:0011091": [ "gemination", "gemination of tooth", "splitting of crown of tooth" ], "HP:0011092": [ "mulberry molar", "syphilitic permanent first molar" ], "HP:0011093": [ "molarization of premolar", "enlarge premolar", "enlarged premolar", "increase size of premolar", "increased size of premolar", "molar shape of bicuspid", "molar shape of premolar", "molarization of bicuspid" ], "HP:0011094": [ "increase overbite", "increased overbite", "deep bite", "deep overbite", "increase overlap of upper and low incisor", "increased overlap of upper and lower incisors", "overbite", "scissors bite", "supraocclusion" ], "HP:0011095": [ "overjet", "abnormality of horizontal incisor relationship", "buck teeth", "protrusion of the maxillary incisor", "protrusion of the maxillary incisors", "protrusion of upper teeth in front of low teeth", "protrusion of upper teeth in front of lower teeth", "upper teeth stick out forward", "upper teeth sticking out forward" ], "HP:0011096": [ "peripheral demyelination", "demyelination" ], "HP:0003381": [ "peripheral demyelination", "demyelination" ], "HP:0006939": [ "peripheral demyelination", "demyelination" ], "HP:0007282": [ "peripheral demyelination", "demyelination" ], "HP:0011097": [ "epileptic spasm", "epileptic spasms", "salaam convulsion", "salaam convulsions", "salaam seizure", "salaam seizures", "west syndrome" ], "HP:0011098": [ "speech apraxia", "apraxia of speech", "verbal dyspraxia" ], "HP:0011099": [ "spastic hemiparesis", "spastic hemiplegia" ], "HP:0011100": [ "intestinal atresia" ], "HP:0011102": [ "ileal atresia" ], "HP:0011103": [ "abnormal leave ventricular outflow tract morphology", "abnormal left ventricular outflow tract morphology", "abnormality of the left ventricular outflow tract" ], "HP:0011104": [ "abnormality of blood volume homeostasis" ], "HP:0011105": [ "hypervolemia", "fluid overload in blood" ], "HP:0011106": [ "hypovolemia", "deplete blood volume", "depleted blood volume" ], "HP:0011107": [ "recurrent aphthous stomatitis", "aphthous stomatitis", "buccal aphthous ulcer", "buccal aphthous ulcers", "recurrent aphthous ulcer", "recurrent aphthous ulcers", "recurrent canker sore", "recurrent canker sores", "recurrent oral aphthae" ], "HP:0011108": [ "recurrent sinusitis", "recurrent sinus disease", "sinusitis , recurrent" ], "HP:0011109": [ "chronic sinusitis", "chronic sinus disease", "sinusitis , chronic" ], "HP:0011110": [ "recurrent tonsillitis", "recurrent inflammation of tonsil", "recurrent inflammation of tonsils" ], "HP:0011111": [ "abnormality of immune serum protein physiology" ], "HP:0011112": [ "abnormality of serum cytokine level" ], "HP:0011113": [ "abnormality of cytokine secretion" ], "HP:0011114": [ "defective production of nfkb1 - dependent cytokine", "defective production of nfkb1 - dependent cytokines" ], "HP:0011115": [ "abnormality of chemokine secretion" ], "HP:0011116": [ "abnormality of interferon secretion" ], "HP:0011117": [ "abnormality of interleukin secretion", "abnormality of il secretion" ], "HP:0011118": [ "abnormality of tumor necrosis factor secretion", "abnormality of cachectin secretion", "abnormality of cachexin secretion", "abnormality of tumour necrosis factor secretion" ], "HP:0011119": [ "abnormality of the nasal dorsum", "abnormal morphology of dorsum of nose", "abnormality of the dorsum of nose", "abnormality of the nasal ridge", "anomaly of the nasal ridge", "crook dorsum of nose", "crooked dorsum of nose", "crook nasal dorsum", "crooked nasal dorsum", "crook nasal ridge", "crooked nasal ridge", "deformity of the dorsum of the nose", "deformity of the nasal dorsum", "deformity of the nasal ridge", "malformation of the dorsum of nose", "malformation of the nasal dorsum", "malformation of the nasal ridge" ], "HP:0011120": [ "concave nasal ridge", "boxer 's nasal deformity", "boxer 's nose deformity", "concave dorsum of nose", "concave nasal dorsum", "saddle nose", "saddle nose deformity", "saddle shape nasal dorsum", "saddle shaped nasal dorsum", "ski jump nose" ], "HP:0011121": [ "abnormality of skin morphology", "abnormal skin morphology", "abnormal skin structure" ], "HP:0011122": [ "abnormality of skin physiology" ], "HP:0011123": [ "inflammatory abnormality of the skin", "abnormal tendency to infection of the skin", "abnormal tendency to infections of the skin", "dermatitis", "inflammatory skin disease", "skin inflammation" ], "HP:0002727": [ "inflammatory abnormality of the skin", "abnormal tendency to infection of the skin", "abnormal tendency to infections of the skin", "dermatitis", "inflammatory skin disease", "skin inflammation" ], "HP:0007423": [ "inflammatory abnormality of the skin", "abnormal tendency to infection of the skin", "abnormal tendency to infections of the skin", "dermatitis", "inflammatory skin disease", "skin inflammation" ], "HP:0011124": [ "abnormal epidermal morphology", "abnormality of epidermal morphology" ], "HP:0011125": [ "abnormality of dermal melanosomes" ], "HP:0011126": [ "nephroptosis", "float kidney", "floating kidney", "renal ptosis" ], "HP:0011127": [ "perioral eczema", "eczema around the mouth" ], "HP:0011128": [ "acute esophageal necrosis" ], "HP:0011129": [ "bilateral fetal pyelectasis", "bilateral fetal pyelectasia", "bilateral foetal pyelectasia", "bilateral foetal pyelectasis" ], "HP:0011130": [ "abnormal renal calyx morphology", "abnormality of renal calyx morphology" ], "HP:0011131": [ "perianal rash" ], "HP:0011132": [ "chronic furunculosis" ], "HP:0011133": [ "increase sensitivity to ionize radiation", "increased sensitivity to ionizing radiation", "increase sensitivity to ionise radiation", "increased sensitivity to ionising radiation" ], "HP:0011134": [ "low - grade fever", "mild fever" ], "HP:0011135": [ "aplasia / hypoplasia of the sweat gland", "aplasia / hypoplasia of the sweat glands", "absent / small sweat gland", "absent / small sweat glands", "absent / underdevelop sweat gland", "absent / underdeveloped sweat glands" ], "HP:0011136": [ "aplasia of the sweat gland", "aplasia of the sweat glands", "absent sweat gland", "absent sweat glands", "lack of sweat gland", "lack of sweat glands" ], "HP:0011137": [ "non - pruritic urticaria", "non - itchy hive", "non - itchy hives" ], "HP:0011138": [ "abnormality of skin adnexa morphology", "abnormal skin appendage" ], "HP:0011139": [ "gastric duplication", "gastric duplication cyst" ], "HP:0011140": [ "gastrointestinal duplication", "gi duplication" ], "HP:0011141": [ "age - relate cataract", "age - related cataract", "clouding of the lens of the eye with age" ], "HP:0011142": [ "age - related nuclear cataract" ], "HP:0011143": [ "age - related cortical cataract" ], "HP:0011144": [ "age - related posterior subcapsular cataract" ], "HP:0011145": [ "symptomatic seizure", "symptomatic seizures" ], "HP:0011146": [ "dialeptic seizure", "behavioral 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 behavioural arrest seizure with impairment of awareness" ], "HP:0011147": [ "typical absence seizure", "typical absence", "typical absence seizures" ], "HP:0011149": [ "absence seizure with eyelid myoclonia", "absence seizures with eyelid myoclonia" ], "HP:0011150": [ "myoclonic absence seizure", "myoclonic absence", "myoclonic absences" ], "HP:0011151": [ "atypical absence status epilepticus", "obtundation status" ], "HP:0011152": [ "early onset absence seizure", "early onset absence seizures", "early onset petit mal seizure", "early onset petit mal seizures" ], "HP:0011153": [ "focal motor seizure", "focal motor seizures", "localise motor seizure", "localised motor seizure", "localised motor seizures", "localize motor seizure", "localized motor seizure", "localized motor seizures", "partial motor seizure", "partial motor seizures", "segmental motor seizure" ], "HP:0011154": [ "focal autonomic seizure", "focal autonomic seizures", "obsolete vegetative aura", "obsolete vegetative auras" ], "HP:0011164": [ "focal autonomic seizure", "focal autonomic seizures", "obsolete vegetative aura", "obsolete vegetative auras" ], "HP:0011155": [ "obsolete focal autonomic seizure with altered responsiveness", "obsolete focal autonomic seizures with altered responsiveness", "focal impair awareness autonomic seizure", "focal impaired awareness autonomic seizure", "focal autonomic seizure with altered responsiveness", "localise autonomic seizure with altered responsiveness", "localised autonomic seizure with altered responsiveness", "localize autonomic seizure with altered responsiveness", "localized autonomic seizure with altered responsiveness", "partial autonomic seizure with altered responsiveness" ], "HP:0011156": [ "obsolete focal autonomic seizure without altered responsiveness", "obsolete focal autonomic seizures without altered responsiveness", "focal aware autonomic seizure", "focal autonomic seizure without altered responsiveness", "focal autonomic seizures without altered responsiveness", "localise autonomic seizure without altered responsiveness", "localised autonomic seizures without altered responsiveness", "localize autonomic seizure without altered responsiveness", "localized autonomic seizures without altered responsiveness", "partial autonomic seizure without altered responsiveness", "partial autonomic seizures without altered responsiveness" ], "HP:0011157": [ "focal sensory seizure", "focal sensory seizures", "partial sensory seizure", "sensory aura" ], "HP:0011158": [ "focal sensory seizure with auditory feature", "focal sensory seizure with auditory features", "auditory aura", "focal auditory seizure", "focal sensory auditory seizure", "partial auditory seizure" ], "HP:0011159": [ "focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon", "focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena", "abdominal aura", "epigastric aura", "epigastric auras", "localised seizure with epigastric sensation", "localized seizure with epigastric sensation", "partial seizure with epigastric sensation", "visceral aura" ], "HP:0011160": [ "focal sensory seizure with gustatory feature", "focal sensory seizure with gustatory features", "focal gustatory seizure", "focal sensory gustatory seizure", "gustatory aura", "gustatory auras", "partial gustatory seizure", "taste hallucination", "taste hallucinations" ], "HP:0011161": [ "focal sensory seizure with olfactory feature", "focal sensory seizure with olfactory features", "focal olfactory seizure", "olfactory aura", "olfactory auras", "partial olfactory seizure" ], "HP:0011162": [ "obsolete psychic aura", "obsolete psychic auras", "focal cognitive seizure", "cognitive aura", "cognitive seizure", "partial cognitive seizure" ], "HP:0011163": [ "focal sensory seizure with somatosensory feature", "focal sensory seizure with somatosensory features", "focal somatosensory seizure", "partial somatosensory seizure", "somatosensory aura", "somatosensory auras" ], "HP:0011165": [ "focal sensory seizure with visual feature", "focal sensory seizure with visual features", "focal visual seizure", "partial visual seizure", "simple partial occipital seizure", "simple partial occipital seizures", "visual aura", "visual auras", "obsolete simple partial occipital seizure", "obsolete simple partial occipital seizures" ], "HP:0007175": [ "focal sensory seizure with visual feature", "focal sensory seizure with visual features", "focal visual seizure", "partial visual seizure", "simple partial occipital seizure", "simple partial occipital seizures", "visual aura", "visual auras", "obsolete simple partial occipital seizure", "obsolete simple partial occipital seizures" ], "HP:0025121": [ "focal sensory seizure with visual feature", "focal sensory seizure with visual features", "focal visual seizure", "partial visual seizure", "simple partial occipital seizure", "simple partial occipital seizures", "visual aura", "visual auras", "obsolete simple partial occipital seizure", "obsolete simple partial occipital seizures" ], "HP:0011166": [ "focal myoclonic seizure", "focal myoclonic seizures", "local myoclonic seizure", "local myoclonic seizures", "localise myoclonic seizure", "localised myoclonic seizure", "localize myoclonic seizure", "localized myoclonic seizure", "partial myoclonic seizure", "partial myoclonic seizures", "segmental myoclonic seizure", "segmental myoclonic seizures", "obsolete segmental myoclonic seizure", "obsolete segmental myoclonic seizures" ], "HP:0025191": [ "focal myoclonic seizure", "focal myoclonic seizures", "local myoclonic seizure", "local myoclonic seizures", "localise myoclonic seizure", "localised myoclonic seizure", "localize myoclonic seizure", "localized myoclonic seizure", "partial myoclonic seizure", "partial myoclonic seizures", "segmental myoclonic seizure", "segmental myoclonic seizures", "obsolete segmental myoclonic seizure", "obsolete segmental myoclonic seizures" ], "HP:0011167": [ "focal tonic seizure", "focal tonic seizures", "local tonic seizure", "local tonic seizures", "localise tonic seizure", "localised tonic seizure", "localize tonic seizure", "localized tonic seizure", "partial tonic seizure", "partial tonic seizures", "segmental tonic seizure" ], "HP:0011168": [ "focal seizure with eyelid myoclonia", "eyelid myoclonias" ], "HP:0011169": [ "generalize clonic seizure", "generalized clonic seizure", "generalise clonic seizure", "generalised clonic seizure", "generalised clonic seizures", "generalise onset clonic seizure", "generalised onset clonic seizure", "generalise - onset clonic seizure", "generalised - onset clonic seizure", "generalized clonic seizures", "generalize onset clonic seizure", "generalized onset clonic seizure", "generalize - onset clonic seizure", "generalized - onset clonic seizure" ], "HP:0011170": [ "generalize myoclonic - atonic seizure", "generalized myoclonic - atonic seizure", "generalise myoclonic - atonic seizure", "generalised myoclonic - atonic seizure", "myoclonic atonic seizure", "myoclonic atonic seizures", "myoclonic - astatic seizure" ], "HP:0011171": [ "simple febrile seizure", "simple febrile convulsion", "simple febrile seizures", "simple fever fit" ], "HP:0011172": [ "complex febrile seizure", "complex febrile convulsion", "complex febrile seizures", "complex fever fit" ], "HP:0011173": [ "focal behavior arrest seizure", "focal behaviour arrest seizure", "focal hypokinetic seizure", "hypokinetic seizure", "hypokinetic seizures", "localised seizure with behavioural arrest", "localized seizure with behavioral arrest", "partial hypokinetic seizure", "partial seizure with behavior arrest", "partial seizure with behaviour arrest" ], "HP:0011174": [ "focal hyperkinetic seizure", "hyperkinetic seizure", "hyperkinetic seizures", "localise hyperkinetic seizure", "localised hyperkinetic seizure", "localize hyperkinetic seizure", "localized hyperkinetic seizure", "partial hyperkinetic seizure", "segmental hyperkinetic seizure" ], "HP:0011175": [ "focal motor seizure with version", "versive seizure", "versive seizures" ], "HP:0011176": [ "eeg with constitutional variant", "eeg with constitutional variants" ], "HP:0011177": [ "eeg with 4 - 5 / second background activity" ], "HP:0011178": [ "alpha - eeg" ], "HP:0011179": [ "beta - eeg", "beta wave electroencephalography" ], "HP:0011180": [ "partial beta - eeg" ], "HP:0011181": [ "low voltage eeg" ], "HP:0011182": [ "interictal epileptiform activity", "epileptiform eeg discharge", "epileptiform eeg discharges" ], "HP:0011183": [ "eeg with hyperventilation - induced focal epileptiform discharge", "eeg with hyperventilation - induced focal epileptiform discharges" ], "HP:0011184": [ "eeg with hyperventilation - induced generalized epileptiform discharge", "eeg with hyperventilation - induced generalized epileptiform discharges", "eeg with hyperventilation - induce generalised epileptiform discharge", "eeg with hyperventilation - induced generalised epileptiform discharges" ], "HP:0011185": [ "eeg with focal epileptiform discharge", "eeg with focal epileptiform discharges", "focal eeg abnormality" ], "HP:0010840": [ "eeg with focal epileptiform discharge", "eeg with focal epileptiform discharges", "focal eeg abnormality" ], "HP:0011186": [ "focal epileptiform discharge with limited propagation to contralateral hemisphere", "focal epileptiform discharges with limited propagation to contralateral hemisphere" ], "HP:0011187": [ "focal eeg discharge with propagation to ipsilateral hemisphere", "focal eeg discharges with propagation to ipsilateral hemisphere" ], "HP:0011188": [ "focal eeg discharge with secondary generalization", "focal eeg discharges with secondary generalization", "focal eeg discharge with secondary generalisation", "focal eeg discharges with secondary generalisation" ], "HP:0011189": [ "bilateral multifocal epileptiform discharge", "bilateral multifocal epileptiform discharges" ], "HP:0011190": [ "uni - and bilateral multifocal epileptiform discharge", "uni - and bilateral multifocal epileptiform discharges" ], "HP:0011191": [ "unilateral multifocal epileptiform discharge", "unilateral multifocal epileptiform discharges" ], "HP:0011192": [ "polymorphic focal epileptiform discharge", "polymorphic focal epileptiform discharges" ], "HP:0011193": [ "eeg with focal spike", "eeg with focal spikes" ], "HP:0011194": [ "eeg with series of focal spike", "eeg with series of focal spikes" ], "HP:0011195": [ "eeg with focal sharp slow wave", "eeg with focal sharp slow waves" ], "HP:0011196": [ "eeg with focal sharp wave", "eeg with focal sharp waves" ], "HP:0011197": [ "eeg with focal spike wave", "eeg with focal spike waves" ], "HP:0011198": [ "eeg with generalized epileptiform discharge", "eeg with generalized epileptiform discharges", "eeg with generalised epileptiform discharge", "eeg with generalised epileptiform discharges" ], "HP:0010842": [ "eeg with generalized epileptiform discharge", "eeg with generalized epileptiform discharges", "eeg with generalised epileptiform discharge", "eeg with generalised epileptiform discharges" ], "HP:0011199": [ "eeg with generalized sharp slow wave", "eeg with generalized sharp slow waves", "eeg with generalised sharp slow wave", "eeg with generalised sharp slow waves" ], "HP:0011200": [ "eeg with generalized polymorphic epileptiform discharge", "eeg with generalized polymorphic epileptiform discharges", "eeg with generalised polymorphic epileptiform discharge", "eeg with generalised polymorphic epileptiform discharges" ], "HP:0011201": [ "eeg with change in voltage", "eeg with changes in voltage" ], "HP:0011202": [ "eeg with diffuse acceleration" ], "HP:0011203": [ "eeg with abnormally slow frequency", "eeg with abnormally slow frequencies" ], "HP:0011204": [ "eeg with continuous slow activity" ], "HP:0011205": [ "eeg with intermittent slow activity" ], "HP:0011206": [ "eeg with generalized slow activity grade 1", "eeg with generalised slow activity grade 1" ], "HP:0011207": [ "eeg with generalized slow activity grade 2", "eeg with generalised slow activity grade 2" ], "HP:0011208": [ "eeg with generalized slow activity grade 3", "eeg with generalised slow activity grade 3" ], "HP:0011209": [ "eeg with generalized slow activity grade 4", "eeg with generalised slow activity grade 4", "flat line eeg" ], "HP:0011210": [ "eeg with occipital slow", "eeg with occipital slowing" ], "HP:0011211": [ "eeg with photoparoxysmal response grade i" ], "HP:0011212": [ "eeg with photoparoxysmal response grade ii" ], "HP:0011213": [ "eeg with photoparoxysmal response grade iii" ], "HP:0011214": [ "eeg with photoparoxysmal response grade iv" ], "HP:0011215": [ "hemihypsarrhythmia" ], "HP:0011217": [ "abnormal shape of the occiput", "abnormal shape of posterior cranium", "abnormal shape of posterior head", "abnormal shape of posterior skull", "abnormal shape of the back of the head", "abnormal shape of the back of the skull" ], "HP:0011218": [ "abnormal shape of the frontal region", "abnormal morphology of the frontal region", "abnormal shape of the forehead", "dysmorphic forehead", "dysmorphic frontal region" ], "HP:0011219": [ "short face", "decreased height of face", "decreased length of face", "decreased vertical dimension of face", "short facies", "vertical deficiency of face", "vertical facial deficiency", "vertical facial insufficiency", "vertical hypoplasia of face", "vertical insufficiency of face", "vertical shortening of face" ], "HP:0011220": [ "prominent forehead", "bulge forehead", "bulging forehead", "prominence of frontal region", "pronounce forehead", "pronounced forehead", "protrude forehead", "protruding forehead" ], "HP:0200061": [ "prominent forehead", "bulge forehead", "bulging forehead", "prominence of frontal region", "pronounce forehead", "pronounced forehead", "protrude forehead", "protruding forehead" ], "HP:0011221": [ "vertical forehead crease", "vertical forehead creases", "frontal crease of face", "frontal creases of face", "vertical forehead rhytids", "vertical forehead wrinkle", "vertical forehead wrinkles" ], "HP:0011222": [ "depressed glabella", "concave glabella", "deficiency of glabella", "deficient area between the eyebrow", "deficient area between the eyebrows", "flat area between the eyebrow", "flat area between the eyebrows", "flat glabella", "hypoplasia of glabella" ], "HP:0011223": [ "metopic depression", "depression of frontal cranial suture", "depression of metopic cranial suture", "frontal suture depression" ], "HP:0011224": [ "ablepharon", "ablepharon of eyelid", "absent eyelid", "absent eyelids", "agenesis of eyelid", "agenesis of eyelids", "aplasia of the eyelid", "aplasia of the eyelids", "miss eyelid", "missing eyelids" ], "HP:0009925": [ "ablepharon", "ablepharon of eyelid", "absent eyelid", "absent eyelids", "agenesis of eyelid", "agenesis of eyelids", "aplasia of the eyelid", "aplasia of the eyelids", "miss eyelid", "missing eyelids" ], "HP:0011225": [ "epiblepharon" ], "HP:0011226": [ "aplasia / hypoplasia of the eyelid", "failure of development of eyelid", "hypotrophic eyelid" ], "HP:0011227": [ "elevate circulate c - reactive protein concentration", "elevated circulating c - reactive protein concentration", "elevate c - reactive protein level", "elevated c - reactive protein level", "elevate crp", "elevated crp" ], "HP:0011228": [ "horizontal eyebrow", "flat eyebrow", "lack of eyebrow arch", "lack of eyebrow curvature", "straight eyebrow", "straight eyebrows" ], "HP:0011229": [ "broad eyebrow", "broad eyebrows", "flare eyebrow", "flared eyebrow", "flared eyebrows", "increased vertical height of eyebrow", "increased vertical thickness of eyebrow", "increased vertical width of eyebrow" ], "HP:0011230": [ "laterally extend eyebrow", "laterally extended eyebrow", "increase lateral length of eyebrow", "increased lateral length of eyebrow", "laterally elongate eyebrow", "laterally elongated eyebrow", "laterally extended eyebrows" ], "HP:0011231": [ "prominent eyelash", "prominent eyelashes", "thick eyelash", "thick eyelashes" ], "HP:0011232": [ "infra - orbital fold", "dennie - morgan fold", "infraorbital fold" ], "HP:0011233": [ "antihelical shelf", "conchal shelf" ], "HP:0011234": [ "absent antihelix" ], "HP:0011235": [ "additional crus of antihelix" ], "HP:0011236": [ "angulate antihelix", "angulated antihelix" ], "HP:0011237": [ "broad inferior crus of antihelix", "antihelix , inferior crus , broad" ], "HP:0011238": [ "prominent inferior crus of antihelix", "antihelix , inferior crus , prominent", "hyperplastic inferior crus of antihelix", "hypertrophic inferior crus of antihelix" ], "HP:0011239": [ "underdeveloped inferior crus of antihelix", "antihelix , inferior crus , underdevelop", "antihelix , inferior crus , underdeveloped", "hypoplastic inferior crus of antihelix", "hypotrophic inferior crus of antihelix" ], "HP:0011240": [ "prominent stem of antihelix", "hyperplastic antihelix stem", "hypertrophic antihelix stem" ], "HP:0011241": [ "serpiginous stem of antihelix", "antihelix , stem , serpiginous" ], "HP:0011242": [ "underdeveloped stem of antihelix", "antihelix , stem , underdevelop", "antihelix , stem , underdeveloped" ], "HP:0011243": [ "abnormality of inferior crus of antihelix", "abnormality of anterior crus of antihelix" ], "HP:0011244": [ "abnormality of stem of antihelix" ], "HP:0011245": [ "abnormality of superior crus of antihelix", "abnormality of posterior crus of antihelix" ], "HP:0011246": [ "underdeveloped superior crus of antihelix", "hypoplastic superior crus of antihelix", "hypotrophic superior crus of antihelix" ], "HP:0011247": [ "prominent superior crus of antihelix", "hyperplastic superior crus of antihelix", "hypertrophic superior crus of antihelix" ], "HP:0011248": [ "evert antitragus", "everted antitragus" ], "HP:0011249": [ "absent antitragus" ], "HP:0011250": [ "bifid antitragus", "double antitragus" ], "HP:0011251": [ "underdeveloped antitragus", "hypoplastic antitragus", "hypotrophic antitragus", "small antitragus" ], "HP:0011252": [ "cryptotia", "bury ear", "buried ear", "hidden ear" ], "HP:0011253": [ "type i cryptotia", "type 1 cryptotia" ], "HP:0011254": [ "type ii cryptotia", "type 2 cryptotia" ], "HP:0011255": [ "absent crus of helix", "helix , crus , absent" ], "HP:0011256": [ "crus of helix connect to antihelix", "crus of helix connected to antihelix", "helix , crus , connect to antihelix", "helix , crus , connected to antihelix" ], "HP:0011257": [ "serpiginous crus of helix", "helix , crus , serpiginous" ], "HP:0011258": [ "tragal bridge of crus of helix", "helix , crus , tragal bridge" ], "HP:0011259": [ "expand terminal portion of crus of helix", "expanded terminal portion of crus of helix", "helix , crus , expand terminal portion", "helix , crus , expanded terminal portion" ], "HP:0011260": [ "darwin notch of helix", "helix , darwin notch" ], "HP:0011261": [ "darwin tubercle of helix", "helix , darwin tubercle" ], "HP:0011262": [ "crimped helix", "helix , crimp", "helix , crimped", "indent helix", "indented helix" ], "HP:0011263": [ "forward face earlobe", "forward facing earlobe", "lobe , forward face", "lobe , forward facing" ], "HP:0011264": [ "discontinuous ascend root of helix", "discontinuous ascending root of helix", "helix , discontinuous ascend root", "helix , discontinuous ascending root" ], "HP:0011265": [ "cleft earlobe" ], "HP:0011266": [ "microtia , first degree", "first - degree microtia" ], "HP:0000379": [ "microtia , first degree", "first - degree microtia" ], "HP:0011267": [ "microtia , third degree", "abnormal shape / structure of ear", "third - degree microtia" ], "HP:0011268": [ "absent tragus" ], "HP:0011269": [ "bifid tragus", "notch tragus", "notched tragus", "tragus , bifid" ], "HP:0011270": [ "duplicate tragus", "duplicated tragus", "accesory tragus", "tragus , duplicate", "tragus , duplicated" ], "HP:0011271": [ "prominent tragus", "enlarge tragus", "enlarged tragus", "hyperplastic tragus", "hypertrophic tragus", "large tragus", "tragus , prominent" ], "HP:0011272": [ "underdeveloped tragus", "hypoplastic tragus", "hypotrophic tragus", "small tragus" ], "HP:0011273": [ "anisocytosis", "unequal size of red blood cell", "unequal size of red blood cells" ], "HP:0011274": [ "recurrent mycobacterial infection", "recurrent mycobacterial infections" ], "HP:0011275": [ "recurrent mycobacterium avium complex infection", "recurrent mycobacterium avium complex infections" ], "HP:0011276": [ "vascular skin abnormality", "skin vascular malformation", "vascular abnormality restrict to skin", "vascular abnormalities restricted to skin" ], "HP:0011277": [ "abnormality of the urinary system physiology" ], "HP:0011278": [ "intrapulmonary sequestration" ], "HP:0011279": [ "abnormality of urine bicarbonate concentration", "abnormality of urine hco3 concentration" ], "HP:0011280": [ "abnormality of urine calcium concentration", "abnormality of urine ca concentration", "abnormality of urine ca2+ concentration" ], "HP:0011281": [ "abnormality of urine catecholamine concentration" ], "HP:0011282": [ "abnormality of hindbrain morphology", "abnormal shape of hindbrain", "abnormality of the hindbrain" ], "HP:0011283": [ "abnormal metencephalon morphology", "abnormality of the metencephalon" ], "HP:0011284": [ "short - segment aganglionic megacolon" ], "HP:0011285": [ "long - segment aganglionic megacolon" ], "HP:0011286": [ "total colonic aganglionosis" ], "HP:0011287": [ "eeg with occipital sharp slow wave", "eeg with occipital sharp slow waves" ], "HP:0011288": [ "eeg with parietal sharp slow wave", "eeg with parietal sharp slow waves" ], "HP:0011289": [ "eeg with temporal sharp slow wave", "eeg with temporal sharp slow waves" ], "HP:0011290": [ "eeg with frontal sharp slow wave", "eeg with frontal sharp slow waves" ], "HP:0011291": [ "eeg with central sharp slow wave", "eeg with central sharp slow waves" ], "HP:0011292": [ "eeg with occipital sharp wave", "eeg with occipital sharp waves" ], "HP:0011293": [ "eeg with central sharp wave", "eeg with central sharp waves" ], "HP:0011294": [ "eeg with frontal sharp wave", "eeg with frontal sharp waves" ], "HP:0011295": [ "eeg with parietal sharp wave", "eeg with parietal sharp waves" ], "HP:0011296": [ "eeg with temporal sharp wave", "eeg with temporal sharp waves" ], "HP:0011297": [ "abnormal digit morphology", "abnormality of digit", "abnormality of finger or toe", "abnormality of fingers or toes", "digital anomaly", "digital anomalies" ], "HP:0011298": [ "prominent digit pad" ], "HP:0011299": [ "partial absence of finger" ], "HP:0011300": [ "broad fingertip", "broad fingertips" ], "HP:0011301": [ "absent foot", "aplasia of the foot", "apodia" ], "HP:0011302": [ "long palm" ], "HP:0001502": [ "long palm" ], "HP:0011303": [ "convex contour of sole" ], "HP:0011304": [ "broad thumb", "broad phalanx of the thumb", "broad phalanges of the thumb", "broad thumbs", "wide / broad thumb", "wide / broad thumb phalanx", "wide / broad thumb phalanges" ], "HP:0001173": [ "broad thumb", "broad phalanx of the thumb", "broad phalanges of the thumb", "broad thumbs", "wide / broad thumb", "wide / broad thumb phalanx", "wide / broad thumb phalanges" ], "HP:0001240": [ "broad thumb", "broad phalanx of the thumb", "broad phalanges of the thumb", "broad thumbs", "wide / broad thumb", "wide / broad thumb phalanx", "wide / broad thumb phalanges" ], "HP:0004073": [ "broad thumb", "broad phalanx of the thumb", "broad phalanges of the thumb", "broad thumbs", "wide / broad thumb", "wide / broad thumb phalanx", "wide / broad thumb phalanges" ], "HP:0009651": [ "broad thumb", "broad phalanx of the thumb", "broad phalanges of the thumb", "broad thumbs", "wide / broad thumb", "wide / broad thumb phalanx", "wide / broad thumb phalanges" ], "HP:0011305": [ "partial absence of toe", "hypophalangy of toe", "hypophalangy of toes" ], "HP:0011307": [ "splay toe", "splayed toes" ], "HP:0011308": [ "slender toe", "narrow toe" ], "HP:0200091": [ "slender toe", "narrow toe" ], "HP:0011309": [ "taper toe", "tapered toe", "tapering toe", "tapering toes" ], "HP:0008088": [ "taper toe", "tapered toe", "tapering toe", "tapering toes" ], "HP:0200089": [ "taper toe", "tapered toe", "tapering toe", "tapering toes" ], "HP:0011310": [ "bridge palmar crease", "bridged palmar crease", "bridge palm line", "bridged palm line", "transitional palmar crease" ], "HP:0011311": [ "sydney crease" ], "HP:0011312": [ "fuse nail", "fused nails" ], "HP:0011313": [ "narrow nail" ], "HP:0200076": [ "narrow nail" ], "HP:0011314": [ "abnormality of long bone morphology", "abnormal shape of long bone", "abnormality of the tubular bone", "abnormality of the tubular bones" ], "HP:0100713": [ "abnormality of long bone morphology", "abnormal shape of long bone", "abnormality of the tubular bone", "abnormality of the tubular bones" ], "HP:0100714": [ "abnormality of long bone morphology", "abnormal shape of long bone", "abnormality of the tubular bone", "abnormality of the tubular bones" ], "HP:0100715": [ "abnormality of long bone morphology", "abnormal shape of long bone", "abnormality of the tubular bone", "abnormality of the tubular bones" ], "HP:0011315": [ "unicoronal synostosis", "unilateral coronal craniosynostosis", "unilateral coronal suture craniosynostosis", "unilateral coronal suture synostosis" ], "HP:0011316": [ "leave unicoronal synostosis", "left unicoronal synostosis" ], "HP:0011317": [ "right unicoronal synostosis" ], "HP:0011318": [ "bicoronal synostosis", "bilateral coronal craniosynostosis", "bilateral coronal suture craniosynostosis", "bilateral coronal suture synostosis" ], "HP:0011319": [ "bilambdoid synostosis", "bilateral lambdoid craniosynostosis", "bilateral lambdoid suture synostosis" ], "HP:0011320": [ "unilambdoid synostosis", "unilateral lambdoid craniosynostosis", "unilateral lambdoid suture synostosis" ], "HP:0011321": [ "leave unilambdoid synostosis", "left unilambdoid synostosis" ], "HP:0011322": [ "right unilambdoid synostosis" ], "HP:0011323": [ "cleft of chin", "midline defect of chin" ], "HP:0011324": [ "multiple suture craniosynostosis", "multisutural craniosynostosis" ], "HP:0011325": [ "pansynostosis", "sysnostosis of all cranial suture", "sysnostosis of all cranial sutures" ], "HP:0011326": [ "anterior plagiocephaly", "anterior flat head syndrome", "coronal synostosis", "deformational anterior plagiocephaly", "deformational frontal plagiocephaly", "frontal plagiocephaly", "positional anterior plagiocephaly", "positional frontal plagiocephaly", "unicoronal craniosynostosis" ], "HP:0011327": [ "posterior plagiocephaly", "deformational posterior plagiocephaly", "occipital plagiocephaly" ], "HP:0011328": [ "abnormality of fontanelle", "abnormality of fontanelles", "anomaly of the fontanelle", "anomaly of the fontanelles" ], "HP:0011329": [ "abnormality of cranial suture", "abnormality of cranial sutures", "abnormality of the bregma suture", "abnormality of the bregma sutures", "abnormality of the calvarium suture", "abnormality of the calvarium sutures", "abnormality of the cranial suture", "abnormality of the cranial sutures", "abnormality of the skull suture" ], "HP:0011330": [ "metopic synostosis", "metopic craniosynostosis", "metopic suture craniosynostosis" ], "HP:0011331": [ "hemifacial atrophy", "atrophy of half of face", "atrophy of one side of the face", "facial hemiatrophy" ], "HP:0011332": [ "hemifacial hypoplasia", "decrease in size of half of face", "decrease in size of one side of the face", "decreased size of half of the face", "decreased size of one side of the face", "hemifacial microsomia", "shrinking of half of face", "shrinking of one side of the face" ], "HP:0011333": [ "asymmetric cry face", "asymmetric crying face", "hypoplasia of depressor angula oris muscle", "partial unilateral facial paresis" ], "HP:0011334": [ "facial shape deformation", "distortion of facial shape", "facial shape compression" ], "HP:0011335": [ "frontal hirsutism", "hairy forehead", "hirsute forehead" ], "HP:0011336": [ "bitemporal forceps mark", "bitemporal forceps marks", "bitemporal aplasia cutis congenita", "congenital ectodermal dysplasia of the face", "congenital , bilateral , scarlike facial lesion", "congenital , bilateral , scarlike facial lesions", "focal facial dermal dysplasia", "temporal skin defect" ], "HP:0011337": [ "abnormality of mouth size", "anomaly of mouth size" ], "HP:0011338": [ "abnormality of mouth shape", "anomaly of mouth shape", "unusual mouth shape" ], "HP:0011339": [ "abnormality of upper lip vermillion", "abnormality of the red part of the upper lip", "anomaly of the upper lip vermillion", "deformity of the upper lip vermillion", "malformation of the upper lip vermillion" ], "HP:0011340": [ "incomplete cleft of the upper lip", "forme fruste unilateral cleft lip", "incomplete cheiloschisis", "notched cleft of the upper lip", "partial cleft of the upper lip" ], "HP:0011341": [ "long upper lip", "elongation of upper lip", "increase height of upper lip", "increased height of upper lip", "increased vertical length of upper lip" ], "HP:0011342": [ "mild global developmental delay", "global developmental delay , mild", "psychomotor retardation , mild" ], "HP:0011343": [ "moderate global developmental delay", "global developmental delay , moderate", "psychomotor retardation , moderate" ], "HP:0011344": [ "severe global developmental delay", "global developmental delay , severe", "severe psychomotor retardation" ], "HP:0011345": [ "moderate expressive language delay" ], "HP:0011346": [ "mild expressive language delay" ], "HP:0011347": [ "abnormality of ocular abduction" ], "HP:0011348": [ "abnormal sixth cranial nerve morphology", "abnormal abducens nerve morphology", "abnormality of the sixth cranial nerve" ], "HP:0011350": [ "mild receptive language delay" ], "HP:0011351": [ "moderate receptive language delay" ], "HP:0011352": [ "severe receptive language delay" ], "HP:0011353": [ "arterial intimal fibrosis", "intimal fibrosis" ], "HP:0011354": [ "generalize abnormality of skin", "generalized abnormality of skin", "generalised abnormality of skin" ], "HP:0011355": [ "localize skin lesion", "localized skin lesion", "localise skin lesion", "localised skin lesion" ], "HP:0011356": [ "regional abnormality of skin" ], "HP:0011357": [ "obsolete abnormality of hair density", "abnormal hair quantity", "abnormality of hair density" ], "HP:0011358": [ "generalize hypopigmentation of hair", "generalized hypopigmentation of hair", "generalised hypopigmentation of hair" ], "HP:0011359": [ "dry hair" ], "HP:0200077": [ "dry hair" ], "HP:0200079": [ "dry hair" ], "HP:0200080": [ "dry hair" ], "HP:0011360": [ "acquire abnormal hair pattern", "acquired abnormal hair pattern" ], "HP:0011361": [ "congenital abnormal hair pattern", "abnormal hair pattern since birth" ], "HP:0011362": [ "obsolete abnormality of hair density", "abnormal hair quantity", "abnormality of hair density" ], "HP:0002115": [ "abnormal hair quantity", "abnormality of hair density" ], "HP:0011363": [ "abnormality of hair growth rate", "abnormality of pace of hair growth", "abnormality of speed of hair growth" ], "HP:0011364": [ "white hair" ], "HP:0011365": [ "patchy hypopigmentation of hair" ], "HP:0011367": [ "yellow nail", "yellow nails" ], "HP:0011368": [ "epidermal thickening", "abnormality of keratinization" ], "HP:0001035": [ "epidermal thickening", "abnormality of keratinization" ], "HP:0011369": [ "mongolian blue spot" ], "HP:0011370": [ "recurrent cutaneous fungal infection", "recurrent cutaneous fungal infections" ], "HP:0011371": [ "recurrent viral skin infection", "recurrent viral skin infections" ], "HP:0011372": [ "aplasia of the inner ear", "absent inner ear", "aplasia of the labyrinth", "labyrinthine aplasia", "michel deformity" ], "HP:0011373": [ "incomplete partition of the cochlea" ], "HP:0011374": [ "incomplete partition of the cochlea type i" ], "HP:0011375": [ "cochlear aplasia", "absent cochlea" ], "HP:0011376": [ "morphological abnormality of the vestibule of the inner ear", "vestibular abnormality" ], "HP:0011377": [ "aplasia of the vestibule", "absent vestibule" ], "HP:0011378": [ "hypoplasia of the vestibule of the inner ear" ], "HP:0011379": [ "dilate vestibule of the inner ear", "dilated vestibule of the inner ear" ], "HP:0011380": [ "morphological abnormality of the semicircular canal" ], "HP:0011381": [ "aplasia of the semicircular canal", "absent semicircular canal" ], "HP:0011382": [ "hypoplasia of the semicircular canal", "hypoplasia of the semicircular canals", "small semicircular canal" ], "HP:0011383": [ "enlarge semicircular canal", "enlarged semicircular canal", "dilate semicircular canal", "dilated semicircular canal" ], "HP:0011384": [ "abnormality of the internal auditory canal", "abnormality of the internal acoustic meatus" ], "HP:0011385": [ "absent internal auditory canal" ], "HP:0011386": [ "narrow internal auditory canal" ], "HP:0011387": [ "enlarge vestibular aqueduct", "enlarged vestibular aqueduct", "dilate vestibular aqueduct", "dilated vestibular aqueduct", "widen vestibular aqueduct", "widened vestibular aqueduct" ], "HP:0011388": [ "enlarge cochlear aqueduct", "enlarged cochlear aqueduct", "dilate cochlear aqueduct", "dilated cochlear aqueduct" ], "HP:0011389": [ "functional abnormality of the inner ear" ], "HP:0011390": [ "morphological abnormality of the inner ear" ], "HP:0011391": [ "morphological abnormality of the nerve of the inner ear", "morphological abnormality of the nerves of the inner ear" ], "HP:0011392": [ "abnormality of the vestibular nerve" ], "HP:0011393": [ "aplasia of the vestibular nerve .", "absent cranial nerve viii", "absent the eighth cranial nerve", "absent vestribular nerve", "aplasia of cranial nerve viii", "aplasia of the eighth cranial nerve" ], "HP:0011394": [ "hypoplasia of the vestibular nerve", "hypoplasia of cranial nerve viii", "hypoplasia of the eighth cranial nerve", "thin vestibular nerve" ], "HP:0011395": [ "aplasia / hypoplasia of the cochlea", "absent / small cochlea", "absent / underdevelop cochlea", "absent / underdeveloped cochlea" ], "HP:0011396": [ "abnormality of the cochlear nerve" ], "HP:0011397": [ "abnormality of the dorsal column of the spinal cord" ], "HP:0011399": [ "tibialis atrophy", "tibialis muscle degeneration" ], "HP:0011400": [ "abnormal cns myelination", "abnormal formation of myelin sheath", "abnormal formation of myelin sheaths" ], "HP:0002520": [ "abnormal cns myelination", "abnormal formation of myelin sheath", "abnormal formation of myelin sheaths" ], "HP:0004335": [ "abnormal cns myelination", "abnormal formation of myelin sheath", "abnormal formation of myelin sheaths" ], "HP:0011401": [ "delay peripheral myelination", "delayed peripheral myelination" ], "HP:0011402": [ "demyelinate sensory neuropathy", "demyelinating sensory neuropathy" ], "HP:0011403": [ "abnormal umbilical cord blood vessel", "abnormal umbilical cord blood vessels" ], "HP:0011404": [ "lethal short - trunk short stature", "lethal short - trunk dwarfism" ], "HP:0011405": [ "childhood onset short - limb short stature", "short - limb dwarfism identifiable during childhood" ], "HP:0003523": [ "childhood onset short - limb short stature", "short - limb dwarfism identifiable during childhood" ], "HP:0011406": [ "infancy onset short - trunk short stature", "short - trunk dwarfism , identifiable in infancy" ], "HP:0008851": [ "infancy onset short - trunk short stature", "short - trunk dwarfism , identifiable in infancy" ], "HP:0011407": [ "proportionate tall stature" ], "HP:0011408": [ "moderate intrauterine growth retardation" ], "HP:0011409": [ "abnormal placental membrane morphology", "abnormality of placental membrane", "abnormality of placental membranes" ], "HP:0011410": [ "caesarian section" ], "HP:0011411": [ "forceps delivery" ], "HP:0011412": [ "ventouse delivery", "vacuum extraction", "vacuum - assist vaginal delivery", "vacuum - assisted vaginal delivery" ], "HP:0011413": [ "shoulder dystocia" ], "HP:0011414": [ "hydropic placenta", "hydrops of the placenta" ], "HP:0011415": [ "calcify placenta", "calcified placenta" ], "HP:0011416": [ "placental infarction", "placental thromboembolism" ], "HP:0011417": [ "long umbilical cord" ], "HP:0011418": [ "abnormal insertion of umbilical cord" ], "HP:0011419": [ "placental abruption", "abruptio placenta", "abruptio placentae" ], "HP:0011420": [ "age of death" ], "HP:0011421": [ "death in adolescence" ], "HP:0011422": [ "abnormal blood chloride concentration", "abnormal blood cl concentration", "abnormal blood cl - concentration", "abnormality of chloride homeostasis" ], "HP:0011423": [ "hyperchloremia" ], "HP:0011424": [ "increase serum zinc", "increased serum zinc", "hyperzincemia" ], "HP:0011425": [ "fetal ultrasound soft marker", "foetal ultrasound soft marker" ], "HP:0011426": [ "fetal choroid plexus cyst", "fetal choroid plexus cysts", "foetal choroid plexus cyst", "foetal choroid plexus cysts" ], "HP:0011427": [ "enlarge fetal cisterna magna", "enlarged fetal cisterna magna", "enlarge foetal cisterna magna", "enlarged foetal cisterna magna" ], "HP:0011428": [ "short fetal femur length", "short fetal thigh bone length", "short foetal femur length", "short foetal thigh bone length" ], "HP:0011429": [ "short fetal humerus length", "short fetal long bone in upper arm length", "short foetal humerus length", "short foetal long bone in upper arm length" ], "HP:0011430": [ "hypoplasia of fetal nasal bone", "hypoplasia of foetal nasal bone", "underdeveloped fetal nose bone", "underdeveloped foetal nose bone" ], "HP:0011431": [ "fetal fifth finger clinodactyly", "fetal little finger curvature", "fetal pinkie finger curvature", "fetal pinky finger curvature", "foetal fifth finger clinodactyly", "foetal little finger curvature", "foetal pinkie finger curvature", "foetal pinky finger curvature" ], "HP:0011432": [ "high maternal serum alpha - fetoprotein" ], "HP:0011433": [ "high maternal serum chorionic gonadotropin", "high maternal serum hcg" ], "HP:0011434": [ "low maternal serum chorionic gonadotropin", "low maternal serum hcg" ], "HP:0011435": [ "low maternal serum papp - a" ], "HP:0011436": [ "abnormal maternal serum screening" ], "HP:0011437": [ "maternal autoimmune disease" ], "HP:0011438": [ "maternal teratogenic exposure" ], "HP:0011439": [ "anesthetic - induced rhabdomylosis" ], "HP:0011440": [ "alcohol - induced rhabdomyolysis" ], "HP:0011441": [ "abnormality of the medulla oblongata", "abnormality of the myencephalon" ], "HP:0011442": [ "abnormal central motor function", "abnormality of central motor function" ], "HP:0011443": [ "abnormality of coordination", "coordination issue" ], "HP:0011444": [ "decorticate rigidity" ], "HP:0011445": [ "athetoid cerebral palsy", "dyskinetic cerebral palsy" ], "HP:0011446": [ "abnormality of high mental function", "abnormality of higher mental function" ], "HP:0011447": [ "hyposegmentation of neutrophil nucleus", "hyposegmentation of neutrophil nuclei", "hyposegmentation of neutrophil nucleus in peripheral blood", "hyposegmentation of neutrophil nuclei in peripheral blood", "pelger - huet anomaly" ], "HP:0011448": [ "ankle clonus", "abnormal rhythmic movement of ankle", "abnormal rhythmic movements of ankle" ], "HP:0002541": [ "ankle clonus", "abnormal rhythmic movement of ankle", "abnormal rhythmic movements of ankle" ], "HP:0011449": [ "knee clonus", "patellar clonus" ], "HP:0002325": [ "knee clonus", "patellar clonus" ], "HP:0011450": [ "unusual cns infection", "central nervous system infection" ], "HP:0011451": [ "primary microcephaly", "congenital decrease head circumference", "congenital decreased head circumference", "congenital microcephaly", "congenital small head", "congenital small head circumference", "congenital small skull", "decrease head circumference present at birth", "decreased head circumference present at birth", "head circumference small for gestational age", "microcephaly present at birth", "small cranium present at birth", "small head circumference present at birth", "small head present at birth", "small skull present at birth" ], "HP:0011452": [ "functional abnormality of the middle ear" ], "HP:0011453": [ "abnormality of the incus" ], "HP:0011454": [ "abnormality of the malleus" ], "HP:0011455": [ "absent malleus" ], "HP:0011456": [ "absent stapes" ], "HP:0011457": [ "loss of eyelash", "loss of eyelashes", "ciliary madarosis", "eyelash fell out", "eyelashes fell out", "milphosis", "miss eyelash", "missing eyelashes" ], "HP:0011458": [ "abdominal symptom" ], "HP:0011459": [ "esophageal carcinoma" ], "HP:0011460": [ "embryonal onset" ], "HP:0011461": [ "fetal onset", "foetal onset" ], "HP:0011462": [ "young adult onset" ], "HP:0011463": [ "childhood onset", "symptom begin in childhood", "symptoms begin in childhood" ], "HP:0003586": [ "childhood onset", "symptom begin in childhood", "symptoms begin in childhood" ], "HP:0003617": [ "childhood onset", "symptom begin in childhood", "symptoms begin in childhood" ], "HP:0011464": [ "aganglionosis of the small intestine" ], "HP:0011465": [ "duodenal aganglionosis" ], "HP:0011466": [ "aplasia / hypoplasia of the gallbladder", "absent / small gallbladder", "absent / underdevelop gallbladder", "absent / underdeveloped gallbladder" ], "HP:0011467": [ "absent gallbladder", "agenesis of the gallbladder", "aplasia of the gallbladder" ], "HP:0011468": [ "facial tic", "facial tics", "cramping of facial muscle", "cramping of facial muscles", "facial spasm", "facial spasms", "involuntary facial muscle spasm", "involuntary facial muscle spasms", "jerking of facial muscle", "jerking of facial muscles", "mimic spasm", "mimic spasms", "muscle spasm of face", "myoclonus of facial muscle", "myoclonus of facial muscles", "spasm of facial muscle", "spasms of facial muscles", "twitching of facial muscle", "twitching of facial muscles" ], "HP:0011469": [ "nasal regurgitation" ], "HP:0011470": [ "nasogastric tube feeding in infancy" ], "HP:0011471": [ "gastrostomy tube feeding in infancy", "peg - feed in infancy", "peg - fed in infancy" ], "HP:0011472": [ "abnormality of small intestinal villus morphology", "abnormal shape of small intestinal villus" ], "HP:0011473": [ "villous atrophy", "atrophy of small intestinal villus", "atrophy of small intestinal villi", "biopsy show villous atrophy", "biopsy shows villous atrophy", "duodenal villous atrophy", "small intestine biopsy show villous atrophy", "small intestine biopsy shows villous atrophy", "variable degree of villous atrophy", "villous degeneration" ], "HP:0011474": [ "childhood onset sensorineural hearing impairment" ], "HP:0011475": [ "persistent stapedial artery" ], "HP:0011476": [ "profound sensorineural hearing impairment" ], "HP:0011477": [ "upbeat nystagmus" ], "HP:0011478": [ "true anophthalmia", "complete anophthalmia", "completely miss eyeball", "completely missing eyeball", "total anophthalmia" ], "HP:0011479": [ "abnormal lacrimal punctum morphology", "abnormality of the lacrimal punctum" ], "HP:0011480": [ "unilateral microphthalmos", "abnormally small eyeball on one side", "unilateral nanophthalmos" ], "HP:0011481": [ "abnormal lacrimal duct morphology", "abnormality of the lacrimal canaliculus", "abnormality of the lacrimal duct" ], "HP:0011482": [ "abnormal lacrimal gland morphology", "abnormality of the lacrimal gland" ], "HP:0011483": [ "anterior synechiae of the anterior chamber", "anterior synechiae", "cornea - iris adhesion", "iridocorneal synechia" ], "HP:0011484": [ "posterior synechiae of the anterior chamber", "iridolenticular adhesion", "iridolenticular adhesions", "posterior synechiae" ], "HP:0011485": [ "corneolenticular adhesion" ], "HP:0011486": [ "abnormality of corneal thickness" ], "HP:0011487": [ "increase corneal thickness", "increased corneal thickness" ], "HP:0011488": [ "abnormal corneal endothelium morphology", "abnormality of corneal endothelium" ], "HP:0011489": [ "abnormal migration of corneal endothelium" ], "HP:0011490": [ "abnormal descemet membrane morphology", "abnormality of descemet 's membrane" ], "HP:0011491": [ "reduced number of corneal endothelial cell", "reduced number of corneal endothelial cells" ], "HP:0011492": [ "abnormality of corneal stroma" ], "HP:0011493": [ "central opacification of the cornea" ], "HP:0011494": [ "generalize opacification of the cornea", "generalized opacification of the cornea", "generalised opacification of the cornea" ], "HP:0011495": [ "abnormal corneal epithelium morphology", "abnormality of corneal epithelium" ], "HP:0011496": [ "corneal neovascularization", "corneal neovascularisation", "corneal pannus", "corneal vascularization", "limbal neovascularization", "new blood vessel formation in cornea" ], "HP:0011497": [ "iris neovascularization", "neovascularization of the iris", "new blood vessel formation in iris" ], "HP:0011499": [ "mydriasis", "dilate pupil", "dilated pupil" ], "HP:0011500": [ "polycoria", "multiple pupil", "multiple pupils" ], "HP:0011501": [ "anterior lenticonus" ], "HP:0011502": [ "posterior lenticonus" ], "HP:0011503": [ "aplasia of the fovea", "absent fovea" ], "HP:0011504": [ "bull 's eye maculopathy", "chloroquine retinopathy" ], "HP:0011505": [ "cystoid macular edema", "cystoid macular oedema" ], "HP:0011506": [ "choroidal neovascularization" ], "HP:0011507": [ "macular fleck", "macular flecks" ], "HP:0011508": [ "macular hole" ], "HP:0011509": [ "macular hyperpigmentation" ], "HP:0011510": [ "drusen" ], "HP:0011511": [ "macular schisis" ], "HP:0011512": [ "hyperpigmentation of the fundus", "hyperpigmented fundus", "hyperpigmented fundi" ], "HP:0011513": [ "retinal cavernous angioma" ], "HP:0011514": [ "abnormality of binocular vision" ], "HP:0011515": [ "abnormal stereopsis" ], "HP:0011516": [ "achromatopsia", "rod monochromacy", "rod monochromatism" ], "HP:0011517": [ "cone monochromacy" ], "HP:0011518": [ "dichromacy" ], "HP:0011519": [ "anomalous trichromacy" ], "HP:0011520": [ "deuteranomaly", "deuteranomoly", "green - weak" ], "HP:0011521": [ "deuteranopia", "green - blind" ], "HP:0011522": [ "protanopia", "red - blind" ], "HP:0011523": [ "iris cyst" ], "HP:0011524": [ "iris melanoma" ], "HP:0011525": [ "iris nevus", "eye freckle" ], "HP:0011526": [ "abnormality of lens shape" ], "HP:0011527": [ "lentiglobus", "bulging of eye lens" ], "HP:0011528": [ "solitary congenital hypertrophy of retinal pigment epithelium", "single isolate chrpe", "single isolated chrpe", "single isolate congenital hypertrophy of retinal pigment epithelium", "single isolated congenital hypertrophy of retinal pigment epithelium" ], "HP:0011529": [ "multiple bilateral congenital hypertrophy of retinal pigment epithelium", "multiple bilateral chrpe" ], "HP:0011530": [ "retinal hole", "retinal holes" ], "HP:0011531": [ "vitritis", "hyalitis", "vitreitis" ], "HP:0011532": [ "subretinal exudate" ], "HP:0011533": [ "snowflake vitreoretinal degeneration", "snowflake retinal degeneration" ], "HP:0011534": [ "abnormal spatial orientation of the cardiac segment", "abnormal spatial orientation of the cardiac segments" ], "HP:0011535": [ "abnormal atrial arrangement", "abnormal location of heart atrium" ], "HP:0011536": [ "right atrial isomerism" ], "HP:0011537": [ "leave atrial isomerism", "left atrial isomerism" ], "HP:0011538": [ "atrial situs inversus" ], "HP:0011539": [ "atrial situs ambiguous", "atrial heterotaxy", "atrial situs ambiguus" ], "HP:0011540": [ "congenitally correct transposition of the great artery", "congenitally corrected transposition of the great arteries", "l - transposition", "ventricular inversion" ], "HP:0011541": [ "criss - cross atrioventricular valve", "criss - cross atrioventricular valves" ], "HP:0011542": [ "criss - cross atrioventricular valve with superior - inferior ventricle", "criss - cross atrioventricular valves with superior - inferior ventricles" ], "HP:0011543": [ "superior - inferior ventricle without criss - cross atrioventricular valve", "superior - inferior ventricles without criss - cross atrioventricular valves" ], "HP:0011544": [ "l - looping of the right ventricle" ], "HP:0011545": [ "abnormal connection of the cardiac segment", "abnormal connection of the cardiac segments", "abnormal connexion of the cardiac segment", "abnormal connexion of the cardiac segments", "discordant connection of the cardiac segment", "discordant connection of the cardiac segments" ], "HP:0011546": [ "abnormal atrioventricular connection", "abnormal atrioventricular connexion" ], "HP:0011547": [ "absent leave sided atrioventricular connection", "absent left sided atrioventricular connection", "absent leave sided atrioventricular connexion", "absent left sided atrioventricular connexion" ], "HP:0011548": [ "absent right side atrioventricular connection", "absent right sided atrioventricular connection", "absent right side atrioventricular connexion", "absent right sided atrioventricular connexion" ], "HP:0011549": [ "univentricular heart with absent left side atrioventricular connection", "univentricular heart with absent left sided atrioventricular connection", "univentricular heart with absent left side atrioventricular connexion", "univentricular heart with absent left sided atrioventricular connexion" ], "HP:0011550": [ "biventricular heart with straddle right side atrioventricular valve and absent leave sided atrioventricular connection", "biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection" ], "HP:0011551": [ "right side atrium to leave ventricle and absent leave sided atrioventricular connection", "right sided atrium to left ventricle and absent left sided atrioventricular connection", "right side atrium to leave ventricle and absent leave sided atrioventricular connexion", "right sided atrium to left ventricle and absent left sided atrioventricular connexion" ], "HP:0011552": [ "ambiguous atrioventricular connection", "ambiguous atrioventricular connexion" ], "HP:0011553": [ "discordant atrioventricular connection", "discordant atrioventricular connexion" ], "HP:0011554": [ "double inlet atrioventricular connection", "double inlet atrioventricular connexion" ], "HP:0011555": [ "double inlet leave ventricle", "double inlet left ventricle" ], "HP:0011556": [ "double inlet right ventricle" ], "HP:0011557": [ "double inlet to single ventricle of indeterminate morphology" ], "HP:0011558": [ "double inlet to single ventricle with common atrioventricular orifice" ], "HP:0011559": [ "double inlet to single ventricle with two atrioventricular valve", "double inlet to single ventricle with two atrioventricular valves" ], "HP:0011560": [ "mitral atresia", "mitral valve atresia" ], "HP:0011561": [ "override atrioventricular valve", "overriding atrioventricular valve" ], "HP:0011562": [ "straddle atrioventricular valve", "straddling atrioventricular valve" ], "HP:0011563": [ "abnormal ventriculoarterial connection", "abnormal ventriculo - arterial connection", "abnormal ventriculoarterial connexion" ], "HP:0011564": [ "mitral valve arcade", "hammock mitral valve" ], "HP:0011565": [ "common atrium", "single atrium" ], "HP:0011566": [ "cor triatriatum dexter", "cor triatriatum dextrum" ], "HP:0011567": [ "sinus venosus atrial septal defect" ], "HP:0011568": [ "double orifice mitral valve" ], "HP:0011569": [ "cleft anterior mitral valve leaflet" ], "HP:0011570": [ "congenital mitral stenosis" ], "HP:0011571": [ "parachute mitral valve" ], "HP:0011572": [ "supramitral ring", "membranous supravalvular mitral stenosis", "supravalvular mitral ring" ], "HP:0011573": [ "hypoplastic tricuspid valve", "tricuspid valve hypoplasia", "underdeveloped tricuspid valve" ], "HP:0011574": [ "imperforate atrioventricular valve", "unopened atrioventricular valve" ], "HP:0011575": [ "imperforate tricuspid valve", "unopened tricuspid valve" ], "HP:0011576": [ "intermediate atrioventricular canal defect", "intermediate atrioventricular septal defect" ], "HP:0011577": [ "partial atrioventricular canal defect" ], "HP:0011578": [ "transitional atrioventricular canal defect" ], "HP:0011579": [ "unbalanced atrioventricular canal defect", "unbalanced atrioventricular septal defect" ], "HP:0011580": [ "short chordae tendineae of the mitral valve" ], "HP:0011581": [ "double outlet leave ventricle", "double outlet left ventricle" ], "HP:0011582": [ "abdominal ectopia cordis" ], "HP:0011583": [ "cervical ectopia cordis" ], "HP:0011584": [ "thoracocervical ectopia cordis" ], "HP:0011585": [ "thoracic ectopia cordis" ], "HP:0011586": [ "thoracoabdominal ectopia cordis" ], "HP:0011587": [ "abnormal branch pattern of the aortic arch", "abnormal branching pattern of the aortic arch" ], "HP:0011588": [ "cervical aortic arch" ], "HP:0011589": [ "common origin of the right brachiocephalic artery and leave common carotid artery", "common origin of the right brachiocephalic artery and left common carotid artery", "bovine arch", "common brachiocephalic trunk", "ovine arch" ], "HP:0011590": [ "double aortic arch" ], "HP:0011591": [ "leave aortic arch with cervical origin of the right subclavian artery", "left aortic arch with cervical origin of the right subclavian artery" ], "HP:0011592": [ "leave aortic arch with isolated subclavian artery", "left aortic arch with isolated subclavian artery" ], "HP:0011593": [ "leave aortic arch with retroesophageal diverticulum of kommerell", "left aortic arch with retroesophageal diverticulum of kommerell", "kommerell diverticulum" ], "HP:0011594": [ "right aortic arch with retroesophageal diverticulum of kommerell" ], "HP:0011595": [ "leave aortic arch with retroesophageal right subclavian artery", "left aortic arch with retroesophageal right subclavian artery" ], "HP:0011596": [ "leave aortic arch with right descend aorta and right ductus arteriosus", "left aortic arch with right descending aorta and right ductus arteriosus" ], "HP:0011597": [ "right aortic arch with left descend aorta and leave ductus arteriosus", "right aortic arch with left descending aorta and left ductus arteriosus" ], "HP:0011598": [ "right aortic arch with retroesophageal leave subclavian artery", "right aortic arch with retroesophageal left subclavian artery", "right aortic arch with aberrant leave subclavian artery", "right aortic arch with aberrant left subclavian artery", "right aortic arch with anomalous left subclavian artery" ], "HP:0011599": [ "mesocardia" ], "HP:0011600": [ "abnormal direction of ventricular apex" ], "HP:0011601": [ "rightward direction of ventricular apex" ], "HP:0011602": [ "midline direction of ventricular apex" ], "HP:0011603": [ "congenital malformation of the great artery", "congenital malformation of the great arteries" ], "HP:0011604": [ "aortopulmonary window" ], "HP:0011605": [ "congenitally correct transposition of the great artery with ventricular septal defect", "congenitally corrected transposition of the great arteries with ventricular septal defect", "cctga" ], "HP:0011606": [ "obsolete transposition of the great artery with intact ventricular septum", "obsolete transposition of the great arteries with intact ventricular septum" ], "HP:0011607": [ "obsolete transposition of the great artery with ventricular septal defect", "obsolete transposition of the great arteries with ventricular septal defect" ], "HP:0011608": [ "type ii truncus arteriosus", "persistent truncus arteriosus type ii", "type 2 truncus arteriosus" ], "HP:0011609": [ "type iii truncus arteriosus", "persistent truncus arteriosus type iii", "type 3 truncus arteriosus" ], "HP:0011610": [ "type iv truncus arteriosus", "persistent truncus arteriosus type iv", "type 4 truncus arteriosus" ], "HP:0011611": [ "interrupt aortic arch", "interrupted aortic arch", "aortic arch obstruction", "atretic transverse aortic arch" ], "HP:0006680": [ "interrupt aortic arch", "interrupted aortic arch", "aortic arch obstruction", "atretic transverse aortic arch" ], "HP:0011612": [ "interrupt aortic arch type a", "interrupted aortic arch type a" ], "HP:0011613": [ "interrupt aortic arch type b", "interrupted aortic arch type b", "interrupt aortic arch , type b", "interrupted aortic arch , type b" ], "HP:0011614": [ "interrupt aortic arch type c", "interrupted aortic arch type c" ], "HP:0011615": [ "abnormal pulmonary situs morphology", "abnormality of pulmonary situs" ], "HP:0011616": [ "pulmonary situs inversus" ], "HP:0011617": [ "pulmonary situs ambiguus" ], "HP:0011618": [ "pulmonary situs ambiguus with bilateral morphologic right lung", "pulmonary situs ambiguus with bilateral morphologic right lungs" ], "HP:0011619": [ "pulmonary situs ambiguus with bilateral morphologic leave lung", "pulmonary situs ambiguus with bilateral morphologic left lungs" ], "HP:0011620": [ "abnormality of abdominal situs" ], "HP:0011621": [ "gerbode ventricular septal defect", "leave ventricular - right atrial communication", "left ventricular - right atrial communication" ], "HP:0011622": [ "inlet ventricular septal defect", "atrioventricular canal type ventricular septal defect", "type 3 ventricular septal defect" ], "HP:0011623": [ "muscular ventricular septal defect", "type 4 ventricular septal defect", "ventricular septal defect , muscular" ], "HP:0011624": [ "apical muscular ventricular septal defect" ], "HP:0011625": [ "multiple muscular ventricular septal defect", "multiple muscular ventricular septal defects", "swiss cheese ventricular septal defect" ], "HP:0011626": [ "scimitar anomaly", "pulmonary venolobar syndrome", "scimitar syndrome" ], "HP:0011627": [ "aorto - ventricular tunnel" ], "HP:0011628": [ "congenital defect of the pericardium" ], "HP:0011629": [ "total absence of the pericardium", "absent pericardium", "congenital absence of the pericardium" ], "HP:0011630": [ "complete diaphragmatic absence of pericardium" ], "HP:0011631": [ "complete right side absence of pericardium", "complete right sided absence of pericardium" ], "HP:0011632": [ "partial right side absence of pericardium", "partial right sided absence of pericardium" ], "HP:0011633": [ "complete leave sided absence of pericardium", "complete left sided absence of pericardium", "absent line around of left side of heart", "absent lining around of left side of heart" ], "HP:0011634": [ "partial leave sided absence of pericardium", "partial left sided absence of pericardium" ], "HP:0011635": [ "partial diaphragmatic absence of pericardium" ], "HP:0011636": [ "abnormal coronary artery origin" ], "HP:0011637": [ "anomalous origin of coronary artery from the pulmonary artery" ], "HP:0011638": [ "anomalous origin of left coronary artery from the pulmonary artery", "anomalous leave coronary artery from the pulmonary artery", "anomalous left coronary artery from the pulmonary artery", "bland - garland - white syndrome" ], "HP:0011639": [ "anomalous origin of right coronary artery from the pulmonary artery" ], "HP:0011640": [ "single coronary artery origin" ], "HP:0011641": [ "coronary artery fistula", "coronary fistula" ], "HP:0011642": [ "abnormal coronary sinus morphology", "abnormality of the coronary sinus" ], "HP:0011643": [ "coronary sinus atrial septal defect" ], "HP:0011644": [ "coronary sinus diverticulum", "diverticulum of the coronary sinus" ], "HP:0011645": [ "dilatation of the sinus of valsalva", "aneurysm of the aortic sinus", "aortic sinus aneurysm", "sinus of valsalva aneurysm" ], "HP:0011646": [ "juxtaductal coarctation of the aorta" ], "HP:0011647": [ "postductal coarctation of the aorta", "postductal aortic coarctation" ], "HP:0011648": [ "patent ductus arteriosus after birth at term" ], "HP:0011649": [ "patent ductus arteriosus after premature birth" ], "HP:0011650": [ "bilateral ductus arteriosus", "bilateral ductus botalli" ], "HP:0011651": [ "double outlet right ventricle with doubly commit ventricular septal defect and pulmonary stenosis", "double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis", "dorv with doubly commit vsd and pulmonary stenosis", "dorv with doubly committed vsd and pulmonary stenosis" ], "HP:0011652": [ "double outlet right ventricle with doubly commit ventricular septal defect without pulmonary stenosis", "double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis", "dorv with doubly commit vsd", "dorv with doubly committed vsd", "double outlet right ventricle , doubly commit ventricular septal defect", "double outlet right ventricle , doubly committed ventricular septal defect" ], "HP:0011653": [ "double outlet right ventricle with non - committed ventricular septal defect and pulmonary stenosis", "dorv with non - commit vsd and pulmonary stenosis", "dorv with non - committed vsd and pulmonary stenosis" ], "HP:0011654": [ "double outlet right ventricle with non - committed ventricular septal defect without pulmonary stenosis", "dorv with non - committed vsd without pulmonary stenosis", "double outlet right ventricle , noncommitted ventricular septal defect" ], "HP:0011655": [ "double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis", "dorv with subaortic vsd and pulmonary stenosis" ], "HP:0011656": [ "double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis", "dorv with subaortic vsd without pulmonary stenosis" ], "HP:0011657": [ "double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis", "dorv with subpulmonary vsd and pulmonary stenosis" ], "HP:0011658": [ "double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis", "dorv with subpulmonary vsd without pulmonary stenosis", "taussig - bing anomaly" ], "HP:0011659": [ "tetralogy of fallot with absent pulmonary valve", "tetralogy of fallot with absent pulmonary valve syndrome" ], "HP:0011660": [ "anomalous origin of one pulmonary artery from ascend aorta", "anomalous origin of one pulmonary artery from ascending aorta", "hemitruncus" ], "HP:0011661": [ "anomalous origin of left pulmonary artery from ascend aorta", "anomalous origin of left pulmonary artery from ascending aorta" ], "HP:0011662": [ "tricuspid atresia", "tricuspid valve atresia" ], "HP:0011663": [ "right ventricular cardiomyopathy", "cardiomyopathy , esp . right ventricular", "cardiomyopathy , right ventricular" ], "HP:0011664": [ "leave ventricular noncompaction cardiomyopathy", "left ventricular noncompaction cardiomyopathy", "leave ventricular non - compaction cardiomyopathy", "left ventricular non - compaction cardiomyopathy" ], "HP:0011665": [ "takotsubo cardiomyopathy", "broken - heart syndrome" ], "HP:0011666": [ "absent right superior vena cava" ], "HP:0011667": [ "bilateral superior vena cava with bridging vein" ], "HP:0011668": [ "bilateral superior vena cava with no bridging vein" ], "HP:0011669": [ "leave superior vena cava drain directly to the left atrium", "left superior vena cava draining directly to the left atrium" ], "HP:0011670": [ "leave superior vena cava drain to coronary sinus", "left superior vena cava draining to coronary sinus" ], "HP:0011671": [ "interrupt inferior vena cava with azygous continuation", "interrupted inferior vena cava with azygous continuation" ], "HP:0011672": [ "cardiac myxoma" ], "HP:0011673": [ "cardiac hemangioma" ], "HP:0011674": [ "cardiac teratoma" ], "HP:0011675": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001656": [ "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001661": [ "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001665": [ "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001666": [ "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001687": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0001721": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0004351": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0005158": [ "obsolete rhythm disturbance associate with pheochromocytoma", "obsolete rhythm disturbances associated with pheochromocytoma", "arrhythmia", "abnormal heart rate", "arrhythmias", "cardiac arrhythmia", "cardiac arrhythmias", "cardiac rhythm disturbance", "cardiac rhythm disturbances", "heart rhythm disorder", "heart rhythm disorders", "irregular heart beat", "irregular heartbeat" ], "HP:0011676": [ "tetralogy of fallot with absent subarterial conus" ], "HP:0011677": [ "tetralogy of fallot with atrioventricular canal defect" ], "HP:0011678": [ "tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral artery", "tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral arteries" ], "HP:0011679": [ "tetralogy of fallot with pulmonary stenosis" ], "HP:0011680": [ "single ventricle of indeterminate morphology" ], "HP:0011681": [ "subarterial ventricular septal defect", "conal ventricular septal defect", "doubly commit ventricular septal defect", "doubly committed ventricular septal defect", "infundibular ventricular septal defect", "supracristal ventricular septal defect", "type 1 ventricular septal defect" ], "HP:0011682": [ "perimembranous ventricular septal defect", "conoventricular ventricular septal defect", "membranous ventricular septal defect", "paramembranous ventricular septal defect", "perimembraneous ventricular septal defect", "type 2 ventricular septal defect", "ventricular septal defect , perimembranous" ], "HP:0011683": [ "restrictive ventricular septal defect" ], "HP:0011684": [ "non - restrictive ventricular septal defect" ], "HP:0011685": [ "infra - aortic superior vena cava" ], "HP:0011686": [ "abnormal coronary artery course", "anomalous coronary artery course" ], "HP:0011687": [ "av nodal tachycardia", "atrioventricular nodal tachycardia" ], "HP:0011688": [ "supraventricular tachycardia with an accessory connection mediate pathway", "supraventricular tachycardia with an accessory connection mediated pathway", "atrioventricular re - entry tachycardia", "supraventricular tachycardia with an accessory connexion mediate pathway", "supraventricular tachycardia with an accessory connexion mediated pathway" ], "HP:0011689": [ "supraventricular tachycardia with a concealed accessory connection", "supraventricular tachycardia with a concealed accessory connexion" ], "HP:0011690": [ "permanent junctional reciprocating tachycardia" ], "HP:0011691": [ "supraventricular tachycardia with a concealed accessory pathway on the left free wall" ], "HP:0011692": [ "supraventricular tachycardia with a concealed accessory pathway on the right free wall" ], "HP:0011693": [ "supraventricular tachycardia with a concealed accessory pathway on the septum" ], "HP:0011694": [ "supraventricular tachycardia with a manifest accessory pathway" ], "HP:0011695": [ "cerebellar hemorrhage", "cerebellar haemorrhage" ], "HP:0011696": [ "supraventricular tachycardia with a manifest accessory pathway on the left free wall" ], "HP:0011697": [ "supraventricular tachycardia with a manifest accessory pathway on the right free wall" ], "HP:0011698": [ "supraventricular tachycardia with a manifest accessory pathway on the septum" ], "HP:0011699": [ "atrial reentry tachycardia" ], "HP:0011700": [ "automatic atrial tachycardia" ], "HP:0011701": [ "multifocal atrial tachycardia", "chaotic atrial tachycardia", "ectopic atrial tachycardia" ], "HP:0011702": [ "abnormal electrophysiology of sinoatrial node origin" ], "HP:0011703": [ "sinus tachycardia", "sinus tach", "sinus tachy" ], "HP:0011704": [ "sick sinus syndrome", "sinoatrial node disease" ], "HP:0011705": [ "first degree atrioventricular block" ], "HP:0011706": [ "second degree atrioventricular block" ], "HP:0011707": [ "mobitz i atrioventricular block", "mobitz type 1 atrioventricular block", "wenckebach block" ], "HP:0011708": [ "mobitz ii atrioventricular block", "mobitz type 2 atrioventricular block" ], "HP:0011709": [ "atrioventricular dissociation" ], "HP:0011710": [ "bundle branch block", "bundle - branch block" ], "HP:0011711": [ "leave anterior fascicular block", "left anterior fascicular block", "leave anterior hemiblock", "left anterior hemiblock" ], "HP:0011712": [ "right bundle branch block", "right bundle - branch block" ], "HP:0011713": [ "leave bundle branch block", "left bundle branch block" ], "HP:0011714": [ "libman - sack lesion", "libman - sacks lesions" ], "HP:0011715": [ "trifascicular block" ], "HP:0011716": [ "junctional ectopic tachycardia" ], "HP:0011717": [ "atrioventricular reentrant tachycardia", "av nodal reentry tachycardia" ], "HP:0011718": [ "abnormality of the pulmonary vein", "abnormality of the pulmonary veins", "abnormality of lung vein", "abnormality of lung veins" ], "HP:0011719": [ "supracardiac total anomalous pulmonary venous connection", "supracardiac total anomalous pulmonary venous connexion", "total anomalous pulmonary venous connection , supracardiac", "type 1 total anomalous pulmonary venous connection" ], "HP:0011720": [ "cardiac total anomalous pulmonary venous connection", "cardiac total anomalous pulmonary venous connexion", "total anomalous pulmonary venous connection , intracardiac", "type 2 total anomalous pulmonary venous connection" ], "HP:0011721": [ "infracardiac total anomalous pulmonary venous connection", "infracardiac total anomalous pulmonary venous connexion", "type 3 total anomalous pulmonary venous connection" ], "HP:0011722": [ "mixed total anomalous pulmonary venous connection", "mixed total anomalous pulmonary venous connexion", "total anomalous pulmonary venous connection , mixed", "type 4 total anomalous pulmonary venous connection" ], "HP:0011723": [ "congenital malformation of the right heart" ], "HP:0011724": [ "uhl 's anomaly" ], "HP:0011725": [ "chaotic multifocal atrial tachycardia" ], "HP:0011726": [ "persistent fetal circulation", "persistent foetal circulation" ], "HP:0011727": [ "peroneal muscle weakness", "fibularis muscle weakness" ], "HP:0011728": [ "elbow clonus" ], "HP:0011729": [ "abnormality of joint mobility" ], "HP:0011730": [ "abnormal central sensory function", "abnormality of central sensory function" ], "HP:0011731": [ "abnormality of circulate cortisol level", "abnormality of circulating cortisol level" ], "HP:0011732": [ "abnormality of adrenal morphology" ], "HP:0011733": [ "abnormality of adrenal physiology" ], "HP:0002855": [ "abnormality of adrenal physiology" ], "HP:0011734": [ "central adrenal insufficiency", "secondary adrenal insufficiency" ], "HP:0011735": [ "adrenocorticotropin deficient adrenal insufficiency", "acth deficient adrenal insufficiency" ], "HP:0011736": [ "primary hyperaldosteronism" ], "HP:0011737": [ "corticotropin - release hormone deficient adrenal insufficiency", "corticotropin - releasing hormone deficient adrenal insufficiency", "crh deficient adrenal insufficiency", "tertiary adrenal insufficiency" ], "HP:0011738": [ "corticotropin - release hormone receptor defect", "corticotropin - releasing hormone receptor defect", "corticotropin - release hormone receptor ( crhr ) resistance", "corticotropin - releasing hormone receptor ( crhr ) resistance", "crhr defect" ], "HP:0011739": [ "dexamethasone - suppressible primary hyperaldosteronism", "familial primary hyperaldosteronism type 1", "glucocorticoid - remediable familial primary aldosteronism" ], "HP:0011740": [ "glucocortocoid - insensitive primary hyperaldosteronism", "familial primary hyperaldosteronism type 2" ], "HP:0011741": [ "secondary hyperaldosteronism", "hyperreninemic hyperaldosteronism" ], "HP:0011742": [ "ectopic adrenal gland", "abnormal adrenal gland position" ], "HP:0011743": [ "adrenal gland agenesis" ], "HP:0011744": [ "secondary hypercortisolism", "acth - dependent hypercortisolemia" ], "HP:0011745": [ "non - secretory adrenocortical adenoma", "non - secretory adrenal adenoma" ], "HP:0011746": [ "secretory adrenocortical adenoma", "secretory adrenal adenoma" ], "HP:0011747": [ "abnormality of the anterior pituitary", "pituitary disease" ], "HP:0011748": [ "adrenocorticotropic hormone deficiency", "acth deficiency", "corticotropin deficiency" ], "HP:0011749": [ "adrenocorticotropic hormone excess", "acth excess" ], "HP:0011750": [ "neoplasm of the anterior pituitary", "neoplasm of the adenohypophysis", "neoplasm of the par anterior", "neoplasm of the pars anterior" ], "HP:0011751": [ "abnormality of the posterior pituitary", "abnormality of the neurohypophysis" ], "HP:0011752": [ "neoplasm of the posterior pituitary", "neoplasm of the neurohypophysis" ], "HP:0011753": [ "posterior pituitary dysgenesis", "neurohypophysis dysplasia", "posterior pituitary dysplasia" ], "HP:0011754": [ "pituicytoma" ], "HP:0011755": [ "ectopic posterior pituitary", "ectopic neurohypophysis" ], "HP:0011756": [ "posterior pituitary agenesis", "neurohypophysis agenesis" ], "HP:0011757": [ "posterior pituitary hypoplasia", "neurohypophysis hypoplasia" ], "HP:0011758": [ "pituitary acidophilic stem cell adenoma" ], "HP:0011759": [ "pituitary gonadotropic cell adenoma", "pituitary gonadotropinoma" ], "HP:0011760": [ "pituitary growth hormone cell adenoma", "pituitary somatotropinoma" ], "HP:0011761": [ "pituitary null cell adenoma", "clinically silent pituitary adenoma", "hormonally silent pituitary adenoma", "non - functional pituitary adenoma", "silent pituitary adenoma" ], "HP:0011762": [ "pituitary thyrotropic cell adenoma", "pituitary thyrotropinoma" ], "HP:0011763": [ "pituitary carcinoma" ], "HP:0011764": [ "pituitary spindle cell oncocytoma" ], "HP:0011765": [ "obsolete ectopic anterior pituitary", "ectopic anterior pituitary gland" ], "HP:0011766": [ "abnormality of the parathyroid morphology" ], "HP:0011767": [ "abnormality of the parathyroid physiology", "parathyroid dysfunction", "parathyroid issue" ], "HP:0011768": [ "parathyroid dysgenesis" ], "HP:0011769": [ "ectopic parathyroid" ], "HP:0011770": [ "tertiary hyperparathyroidism" ], "HP:0011771": [ "autoimmune hypoparathyroidism" ], "HP:0011772": [ "abnormal thyroid morphology", "abnormal shape of thyroid gland", "abnormality of thyroid morphology" ], "HP:0011773": [ "uninodular goiter", "uninodular goitre" ], "HP:0011774": [ "thyroid follicular adenoma" ], "HP:0011775": [ "thyroid macrofollicular adenoma" ], "HP:0011776": [ "thyroid microfollicular adenoma" ], "HP:0011777": [ "thyroid papillary adenoma" ], "HP:0011778": [ "thyroid atypical adenoma" ], "HP:0011779": [ "anaplastic thyroid carcinoma" ], "HP:0011780": [ "thyroid hemiagenesis" ], "HP:0011781": [ "thyroid c cell hyperplasia" ], "HP:0011782": [ "thyroid crisis" ], "HP:0011783": [ "thyrotoxicosis from ectopic thyroid tissue" ], "HP:0011784": [ "thyrotoxicosis with diffuse goiter", "thyrotoxicosis with diffuse goitre" ], "HP:0011785": [ "thyrotoxicosis with toxic multinodular goiter", "thyrotoxicosis with toxic multinodular goitre" ], "HP:0011786": [ "thyrotoxicosis with toxic single thyroid nodule" ], "HP:0011787": [ "central hypothyroidism" ], "HP:0011788": [ "increase circulate free t3", "increased circulating free t3", "increase circulate free triiodothyronine", "increased circulating free triiodothyronine", "increase serum free t3", "increased serum free t3", "increase serum free triiodothyronine", "increased serum free triiodothyronine", "increase serum ft3", "increased serum ft3" ], "HP:0011789": [ "impaired sensitivity to thyroid stimulate hormone", "impaired sensitivity to thyroid stimulating hormone", "thyroid - stimulate hormone receptor defect", "thyroid - stimulating hormone receptor defect", "tshr defect" ], "HP:0011790": [ "activate thyroid - stimulate hormone receptor defect", "activating thyroid - stimulating hormone receptor defect", "activate tshr defect", "activating tshr defect" ], "HP:0011791": [ "inactivate thyroid - stimulate hormone receptor defect", "inactivating thyroid - stimulating hormone receptor defect", "inactivate tshr defect", "inactivating tshr defect" ], "HP:0011792": [ "neoplasm by histology" ], "HP:0011793": [ "neoplasm by anatomical site" ], "HP:0011794": [ "embryonal renal neoplasm" ], "HP:0011795": [ "intralobar nephroblastomatosis" ], "HP:0011796": [ "perilobar nephroblastomatosis" ], "HP:0011797": [ "papillary renal cell carcinoma type 1" ], "HP:0011798": [ "renal oncocytoma" ], "HP:0011799": [ "abnormality of facial soft tissue", "anomaly of facial soft tissue", "deformity of facial soft tissue", "malformation of facial soft tissue" ], "HP:0011800": [ "midface retrusion", "decreased projection of midface", "decreased size of midface", "flat midface", "hypoplasia of midface", "hypotrophic midface", "midface deficiency", "midface hypoplasia", "midface , flat", "retrusive midface", "small midface", "underdevelopment of midface", "obsolete flat midface" ], "HP:0040199": [ "midface retrusion", "decreased projection of midface", "decreased size of midface", "flat midface", "hypoplasia of midface", "hypotrophic midface", "midface deficiency", "midface hypoplasia", "midface , flat", "retrusive midface", "small midface", "underdevelopment of midface", "obsolete flat midface" ], "HP:0011801": [ "enlargement of parotid gland", "hyperplasia of parotid gland", "hypertrophy of parotid gland", "increase size of parotid gland", "increased size of parotid gland" ], "HP:0011802": [ "hamartoma of tongue", "lingual hamartoma" ], "HP:0011803": [ "bifid nose", "bifid nasal bridge", "cleft nasal bridge", "cleft nose", "indentation or clefting of the nose", "indent bridge of nose", "indented bridge of nose" ], "HP:0011804": [ "abnormal muscle physiology", "abnormality of muscle physiology", "issue with muscle function" ], "HP:0011805": [ "abnormal skeletal muscle morphology", "abnormal muscle morphology", "abnormality of muscle morphology", "abnormally shaped muscle", "issue with muscle structure" ], "HP:0003735": [ "abnormal skeletal muscle morphology", "abnormal muscle morphology", "abnormality of muscle morphology", "abnormally shaped muscle", "issue with muscle structure" ], "HP:0011807": [ "type 1 muscle fiber atrophy", "type 1 muscle fibre atrophy" ], "HP:0011808": [ "decrease patellar reflex", "decreased patellar reflex", "decrease knee jerk reflex", "decreased knee jerk reflex", "decreased patellar reflexes" ], "HP:0011809": [ "paradoxical myotonia" ], "HP:0011810": [ "impaired two - point discrimination" ], "HP:0011811": [ "impaired touch localization", "impaired topognosis", "impaired touch localisation" ], "HP:0011812": [ "agraphesthesia" ], "HP:0011813": [ "increase cerebral lipofuscin", "increased cerebral lipofuscin" ], "HP:0011814": [ "increase urinary hypoxanthine", "increased urinary hypoxanthine" ], "HP:0011815": [ "cephalocele" ], "HP:0011816": [ "parietal encephalocele" ], "HP:0011817": [ "basal encephalocele" ], "HP:0011818": [ "nasofrontal encephalocele", "naso - frontal encephalocele" ], "HP:0011819": [ "submucous cleft soft palate", "partial thickness cleft soft palate", "submucous cleft velum" ], "HP:0011820": [ "membranous choanal atresia" ], "HP:0011821": [ "abnormality of facial skeleton", "abnormality of facial bone", "abnormality of facial bones", "anomaly of facial bone", "anomaly of facial bones", "anomaly of facial skeleton", "deformity of facial skeleton", "deformity of the facial bone", "deformity of the facial bones", "malformation of facial bone", "malformation of facial bones", "malformation of facial skeleton" ], "HP:0011822": [ "broad chin", "increase width of chin", "increased width of chin", "increase width of menton region", "increased width of menton region", "wide chin" ], "HP:0011823": [ "chin with horizontal crease", "chin with horizontal furrow", "chin with horizontal groove", "chin with horizontal sulcus", "horizontal chin skin cleft", "horizontal menton crease" ], "HP:0011824": [ "chin with h - shape crease", "chin with h - shaped crease", "chin , h - shaped crease", "chin , h - shape groove", "chin , h - shaped groove", "h - shaped dimple of the chin" ], "HP:0011825": [ "tent philtrum", "tented philtrum", "philtrum , tent", "philtrum , tented" ], "HP:0011826": [ "philtrum with midline raphe", "philtrum with central raphe", "philtrum with midline ridge", "philtrum , midline raphe" ], "HP:0011827": [ "malaligned philtral ridge", "malaligned philtral ridges", "asymmetric philtral column", "asymmetric philtral columns", "asymmetric philtral ridge", "asymmetric philtral ridges", "malaligned philtral column", "malaligned philtral columns", "philtral ridge , malaligned", "philtral ridges , malaligned" ], "HP:0011828": [ "midline sinus of philtrum", "central sinus of philtrum", "philtrum , midline sinus" ], "HP:0011829": [ "narrow philtrum", "decrease breadth of philtrum", "decreased breadth of philtrum", "decrease horizontal dimension of philtrum", "decreased horizontal dimension of philtrum", "decreased transverse dimension of philtrum", "decrease width of philtrum", "decreased width of philtrum", "philtrum , narrow", "thin philtrum" ], "HP:0011830": [ "abnormal oral mucosa morphology", "abnormality of lining of mouth", "abnormality of mucosa of mouth", "abnormality of oral mucosa", "abnormality of oral mucous membrane" ], "HP:0011831": [ "deviate nasal tip", "deviated nasal tip", "asymmetry of nasal tip", "asymmetry of tip of nose", "crook nasal tip", "crooked nasal tip", "crooked tip of nose", "deviate tip of nose", "deviated tip of nose", "distortion of the nasal tip", "nasal tip , deviate", "nasal tip , deviated" ], "HP:0011832": [ "narrow nasal tip", "narrow tip of nose", "nasal tip , narrow", "nasal tip , pinch", "nasal tip , pinched", "pinch nasal tip", "pinched nasal tip", "pinch tip of nose", "pinched tip of nose", "thin nasal tip", "thin tip of nose" ], "HP:0011833": [ "overhang nasal tip", "overhanging nasal tip", "droop nasal tip", "drooping nasal tip", "hooked tip of nose", "low hang nasal tip", "low hanging nasal tip", "nasal tip , overhang", "nasal tip , overhanging" ], "HP:0011834": [ "moyamoya phenomenon" ], "HP:0011835": [ "absent scaphoid", "absent scaphoid bone", "miss scaphoid bone", "missing scaphoid bone" ], "HP:0011836": [ "delay talus ossification", "delayed talus ossification" ], "HP:0011837": [ "partial iga deficiency" ], "HP:0011838": [ "sclerodactyly" ], "HP:0011839": [ "abnormal t cell count", "abnormal number of t cell", "abnormal number of t cells", "abnormality of t cell number" ], "HP:0011840": [ "obsolete primary t - lymphocyte immune abnormality", "obsolete primary t - lymphocyte immune abnormalities", "abnormality of t cell physiology" ], "HP:0011841": [ "ventricular flutter" ], "HP:0011842": [ "abnormality of skeletal morphology", "abnormally shape skeletal", "abnormally shaped skeletal" ], "HP:0011843": [ "abnormality of musculoskeletal physiology" ], "HP:0011844": [ "abnormal appendicular skeleton morphology" ], "HP:0011845": [ "short second metatarsal", "short 2nd long bone of foot" ], "HP:0011846": [ "osteoblastoma" ], "HP:0011847": [ "giant cell tumor of bone", "giant cell tumour of bone" ], "HP:0011848": [ "abdominal colic" ], "HP:0011849": [ "abnormal bone ossification", "abnormal bone maturation" ], "HP:0011850": [ "parotitis" ], "HP:0011851": [ "hemopericardium" ], "HP:0011852": [ "chylopericardium" ], "HP:0011853": [ "serous pericardial effusion" ], "HP:0011854": [ "hemoperitoneum", "hematoperitoneum" ], "HP:0011855": [ "pharyngeal edema", "pharyngeal oedema", "swell throat", "swollen throat", "throat swell", "throat swelling" ], "HP:0011856": [ "pica" ], "HP:0011857": [ "plasmacytoma" ], "HP:0011858": [ "reduce factor ix activity", "reduced factor ix activity", "low factor ix activity" ], "HP:0011859": [ "punctate keratitis" ], "HP:0011860": [ "metaphyseal dapple", "metaphyseal dappling", "dapple metaphyseal sclerosis", "dappled metaphyseal sclerosis" ], "HP:0011861": [ "bilateral trilobed lung", "bilateral trilobed lungs" ], "HP:0011862": [ "abnormal bone collagen fibril morphology" ], "HP:0011863": [ "abnormal sternal ossification", "abnormal maturation of breastbone", "sternal ossification center abnormality", "sternal ossification center abnormalities", "sternal ossification centre abnormality", "sternal ossification centre abnormalities" ], "HP:0006624": [ "abnormal sternal ossification", "abnormal maturation of breastbone", "sternal ossification center abnormality", "sternal ossification center abnormalities", "sternal ossification centre abnormality", "sternal ossification centre abnormalities" ], "HP:0011864": [ "elevate plasma pyrophosphate", "elevated plasma pyrophosphate" ], "HP:0011867": [ "abnormal iliac wing morphology", "abnormality of the wing of the ilium" ], "HP:0011868": [ "sciatica" ], "HP:0011869": [ "abnormal platelet function" ], "HP:0011870": [ "impaired arachidonic acid - induced platelet aggregation" ], "HP:0011871": [ "impaired ristocetin - induced platelet aggregation" ], "HP:0011872": [ "impaired thrombin - induced platelet aggregation" ], "HP:0011873": [ "abnormal platelet count" ], "HP:0011874": [ "heparin - induce thrombocytopenia", "heparin - induced thrombocytopenia" ], "HP:0011875": [ "abnormal platelet morphology", "abnormal shape of platelet", "abnormal shape of platelets" ], "HP:0011876": [ "abnormal platelet volume" ], "HP:0011877": [ "increase mean platelet volume", "increased mean platelet volume", "large platelet", "large platelets" ], "HP:0011878": [ "abnormal platelet membrane protein expression" ], "HP:0011879": [ "decrease platelet glycoprotein ib - ix - v", "decreased platelet glycoprotein ib - ix - v" ], "HP:0011880": [ "acute disseminate intravascular coagulation", "acute disseminated intravascular coagulation" ], "HP:0011881": [ "decrease platelet glycoprotein vi", "decreased platelet glycoprotein vi" ], "HP:0011882": [ "decrease platelet p2y12 receptor", "decreased platelet p2y12 receptor" ], "HP:0011883": [ "abnormal platelet granule", "abnormal platelet granules" ], "HP:0011884": [ "abnormal umbilical stump bleeding" ], "HP:0011885": [ "hemorrhage of the eye", "bleed from the eye", "bleeding from the eye", "haemorrhage of the eye" ], "HP:0011886": [ "hyphema" ], "HP:0011887": [ "choroid hemorrhage", "choroid haemorrhage", "choroidal haemorrhage", "choroidal hemorrhage" ], "HP:0011888": [ "bleed require red cell transfusion", "bleeding requiring red cell transfusion" ], "HP:0011889": [ "bleed with minor or no trauma", "bleeding with minor or no trauma", "easy bleeding" ], "HP:0011890": [ "prolonged bleeding following procedure" ], "HP:0011891": [ "post - partum hemorrhage", "bleed post - delivery", "bleeding post - delivery", "post - partum haemorrhage" ], "HP:0011892": [ "low level of vitamin k", "low levels of vitamin k" ], "HP:0011893": [ "abnormal leukocyte count", "abnormal white blood cell count" ], "HP:0011894": [ "impaired thromboxane a2 agonist - induced platelet aggregation" ], "HP:0011895": [ "anemia due to reduced life span of red cell", "anemia due to reduced life span of red cells", "anaemia due to reduced life span of red cell", "anaemia due to reduced life span of red cells" ], "HP:0011896": [ "subconjunctival hemorrhage", "subconjunctival haemorrhage" ], "HP:0011897": [ "neutrophilia", "increase blood neutrophil count", "increased blood neutrophil counts" ], "HP:0011898": [ "abnormality of circulate fibrinogen", "abnormality of circulating fibrinogen" ], "HP:0011899": [ "hyperfibrinogenemia" ], "HP:0011900": [ "hypofibrinogenemia", "low fibrinogen activity", "low fibrinogen level" ], "HP:0011901": [ "dysfibrinogenemia", "dysfibrinogenaemia" ], "HP:0011902": [ "abnormal hemoglobin", "abnormal haemoglobin", "abnormal hb" ], "HP:0011903": [ "hbh hemoglobin", "haemoglobin h", "hbh haemoglobin", "hemoglobin h" ], "HP:0011904": [ "persistence of hemoglobin f", "increase haemoglobin f", "increased haemoglobin f", "increase hemoglobin f", "increased hemoglobin f", "persistence of haemoglobin f", "persistence of hbf" ], "HP:0011905": [ "reduce hemoglobin a", "reduced hemoglobin a", "reduce haemoglobin a", "reduced haemoglobin a", "reduce hba", "reduced hba" ], "HP:0011906": [ "reduce beta / alpha synthesis ratio", "reduced beta / alpha synthesis ratio" ], "HP:0011907": [ "reduce alpha / beta synthesis ratio", "reduced alpha / beta synthesis ratio" ], "HP:0011908": [ "unilateral radial aplasia" ], "HP:0011909": [ "flatten metacarpal head", "flattened metacarpal heads", "flatten head of long bone of hand", "flattened head of long bone of hand" ], "HP:0011910": [ "shortening of all phalanx of finger", "shortening of all phalanges of fingers", "shortening of all finger bone", "shortening of all finger bones" ], "HP:0011911": [ "abnormality of metacarpophalangeal joint", "abnormality of the knuckle" ], "HP:0011912": [ "abnormality of the glenoid fossa" ], "HP:0011913": [ "lumbar hypertrichosis" ], "HP:0011914": [ "thoracic hypertrichosis" ], "HP:0011915": [ "cardiovascular calcification" ], "HP:0011916": [ "toe extensor amyotrophy" ], "HP:0011917": [ "short 5th toe", "short fifth toe", "short little toe", "short pinkie toe", "short pinky toe" ], "HP:0011918": [ "clinodactyly of the 4th toe", "4th toe clinodactyly", "curvature of 4th toe" ], "HP:0011919": [ "pleural empyema", "pyothorax" ], "HP:0011920": [ "transudative pleural effusion" ], "HP:0011921": [ "exudative pleural effusion" ], "HP:0011922": [ "abnormal activity of mitochondrial respiratory chain" ], "HP:0011923": [ "decreased activity of mitochondrial complex i", "respiratory complex i deficiency" ], "HP:0011924": [ "decreased activity of mitochondrial complex iii", "respiratory complex iii deficiency" ], "HP:0011925": [ "decreased activity of mitochondrial atp synthase complex", "respiratory complex deficiency , atpase deficiency" ], "HP:0011926": [ "proximal placement of hallux", "proximal placement of big toe", "proximally place hallux", "proximally placed halluces" ], "HP:0011927": [ "short digit", "very short digit", "very short digits" ], "HP:0011928": [ "short proximal phalanx of toe", "short innermost toe bone" ], "HP:0011929": [ "hypersegmentation of proximal phalanx of third finger" ], "HP:0011930": [ "hyperextensible skin of chest", "hyperelastic chest skin", "stretchable chest skin" ], "HP:0011931": [ "abnormal cerebellar peduncle morphology", "abnormality of the cerebellar peduncle" ], "HP:0011932": [ "abnormal superior cerebellar peduncle morphology", "abnormality of the superior cerebellar peduncle" ], "HP:0011933": [ "elongate superior cerebellar peduncle", "elongated superior cerebellar peduncle", "elongated superior cerebellar peduncles", "long cerebellar peduncle", "long cerebellar peduncles" ], "HP:0011934": [ "dilatation of mesenteric artery", "mesenteric artery aneurysm" ], "HP:0011935": [ "decrease urinary urate", "decreased urinary urate" ], "HP:0011936": [ "decrease plasma total carnitine", "decreased plasma total carnitine" ], "HP:0011937": [ "hypoplastic fifth toenail", "small fifth toenail", "underdeveloped fifth toenail" ], "HP:0011939": [ "3 - 4 finger cutaneous syndactyly" ], "HP:0011940": [ "anterior wedging of t12", "anterior wedging of the 12th thoracic vertebra", "wedge - shape 12th thoracic vertebra", "wedge - shaped 12th thoracic vertebra" ], "HP:0011941": [ "anterior wedging of l2" ], "HP:0011942": [ "increase urinary sulfite", "increased urinary sulfite" ], "HP:0011943": [ "increase urinary thiosulfate", "increased urinary thiosulfate" ], "HP:0011944": [ "small vessel vasculitis" ], "HP:0011945": [ "bronchiolitis obliterans organize pneumonia", "bronchiolitis obliterans organizing pneumonia", "bronchiolitis obliterans organise pneumonia", "bronchiolitis obliterans organising pneumonia", "cryptogenic organise pneumonia", "cryptogenic organising pneumonia", "cryptogenic organize pneumonia", "cryptogenic organizing pneumonia" ], "HP:0011946": [ "bronchiolitis obliterans", "constrictive bronchiolitis", "obliterative bronchiolitis" ], "HP:0011947": [ "respiratory tract infection", "respiratory infection", "respiratory infections" ], "HP:0011948": [ "recurrent acute respiratory tract infection", "acute respiratory tract infection" ], "HP:0011949": [ "acute infectious pneumonia" ], "HP:0011950": [ "bronchiolitis" ], "HP:0011951": [ "aspiration pneumonia" ], "HP:0011952": [ "acute aspiration pneumonia" ], "HP:0011953": [ "pulmonary lymphoma" ], "HP:0011954": [ "nodular regenerative hyperplasia of liver", "nodular transformation of liver", "noncirrhotic nodulation", "partial nodular transformation of liver" ], "HP:0011955": [ "hepatic granulomatosis" ], "HP:0011956": [ "intestinal lymphoid nodular hyperplasia" ], "HP:0011957": [ "abnormal pectoral muscle morphology", "abnormal pec muscle", "abnormal pec muscles" ], "HP:0011958": [ "retinal perforation", "retinal tear", "torn retina" ], "HP:0011959": [ "unilateral hypoplasia of pectoralis major muscle", "small pec muscle on one side", "underdeveloped pec muscle on one side" ], "HP:0011960": [ "substantia nigra gliosis" ], "HP:0011961": [ "non - obstructive azoospermia", "testicular azoospermia" ], "HP:0011962": [ "obstructive azoospermia" ], "HP:0011963": [ "pretesticular azoospermia" ], "HP:0011964": [ "intermittent painful muscle spasm", "intermittent painful muscle spasms" ], "HP:0011965": [ "abnormal circulate citrulline concentration", "abnormal circulating citrulline concentration" ], "HP:0011966": [ "elevate plasma citrulline", "elevated plasma citrulline" ], "HP:0011967": [ "decrease circulate copper concentration", "decreased circulating copper concentration", "copper deficiency", "hypocupremia", "reduce serum copper", "reduced serum copper" ], "HP:0011968": [ "feed difficulty", "feeding difficulties", "feeding problem", "feeding problems", "poor feeding" ], "HP:0011969": [ "elevate circulate luteinizing hormone level", "elevated circulating luteinizing hormone level", "elevate lh level", "elevated lh level", "elevate luteinizing hormone", "elevated luteinizing hormone", "increase circulate luteinizing hormone level", "increased circulating luteinizing hormone level" ], "HP:0030343": [ "elevate circulate luteinizing hormone level", "elevated circulating luteinizing hormone level", "elevate lh level", "elevated lh level", "elevate luteinizing hormone", "elevated luteinizing hormone", "increase circulate luteinizing hormone level", "increased circulating luteinizing hormone level" ], "HP:0011970": [ "cerebral amyloid angiopathy" ], "HP:0011971": [ "dermatographic urticaria", "dermatographism", "dermographism", "skin writing" ], "HP:0011972": [ "hypoglycorrhachia", "decrease csf glucose", "decreased csf glucose", "low glucose level in cerebral spinal fluid", "low glucose levels in cerebral spinal fluid" ], "HP:0011973": [ "paroxysmal lethargy" ], "HP:0011974": [ "myelofibrosis" ], "HP:0011975": [ "aminoglycoside - induced hearing loss" ], "HP:0011976": [ "elevate urinary catecholamine", "elevated urinary catecholamines" ], "HP:0011977": [ "elevate urinary homovanillic acid", "elevated urinary homovanillic acid", "increase urinary homovanillic acid", "increased urinary homovanillic acid" ], "HP:0011978": [ "elevate urinary vanillylmandelic acid", "elevated urinary vanillylmandelic acid", "increase urinary vanillylmandelic acid", "increased urinary vanillylmandelic acid" ], "HP:0011979": [ "elevate urinary dopamine", "elevated urinary dopamine" ], "HP:0011980": [ "cholesterol gallstone", "cholesterol gallstones" ], "HP:0011981": [ "pigment gallstone", "pigment gallstones" ], "HP:0011982": [ "black pigment gallstone", "black pigment gallstones" ], "HP:0011983": [ "brown pigment gallstone", "brown pigment gallstones" ], "HP:0011984": [ "atretic gallbladder", "gallbladder atresia" ], "HP:0011985": [ "acholic stool", "acholic stools", "acholia", "clay color stool", "clay colored stools", "clay colour stool", "clay coloured stools", "discolor , acholic stool", "discolored , acholic stools" ], "HP:0200112": [ "acholic stool", "acholic stools", "acholia", "clay color stool", "clay colored stools", "clay colour stool", "clay coloured stools", "discolor , acholic stool", "discolored , acholic stools" ], "HP:0011986": [ "ectopic ossification", "ectopic bone formation", "heterotopic ossification" ], "HP:0011987": [ "ectopic ossification in muscle tissue", "calcification of muscle tissue" ], "HP:0011988": [ "ectopic ossification in tendon tissue" ], "HP:0011989": [ "ectopic ossification in ligament tissue" ], "HP:0011990": [ "abnormality of neutrophil physiology" ], "HP:0011991": [ "abnormal neutrophil count", "abnormal neutrophil cell number" ], "HP:0011992": [ "abnormality of neutrophil morphology" ], "HP:0011993": [ "impaired neutrophil bactericidal activity" ], "HP:0011994": [ "abnormal atrial septum morphology", "abnormal interatrial septum morphology", "abnormality of the atrial septum" ], "HP:0011995": [ "atrial septal dilatation", "atrial septal aneurysm" ], "HP:0011996": [ "elevate coagulation factor v activity", "elevated coagulation factor v activity", "elevate factor v activity", "elevated factor v activity", "plasma factor v elevate", "plasma factor v elevated" ], "HP:0011997": [ "postprandial hyperlactemia" ], "HP:0011998": [ "postprandial hyperglycemia" ], "HP:0011999": [ "paranoia" ], "HP:0012000": [ "eeg with generalized spike", "eeg with generalized spikes", "eeg with generalised spike", "eeg with generalised spikes" ], "HP:0012001": [ "eeg with generalized polyspikes", "eeg with generalised polyspikes" ], "HP:0012002": [ "experiential epileptic aura", "experiential aura", "experiential auras" ], "HP:0012003": [ "affective epileptic aura", "affective aura", "affective auras", "emotional aura" ], "HP:0012004": [ "focal cognitive seizure with deja vu / jamais vu", "mnemonic aura", "mnemonic auras", "obsolete focal cognitive seizure with deja vu / jamais vu" ], "HP:0032697": [ "focal cognitive seizure with deja vu / jamais vu", "mnemonic aura", "mnemonic auras", "obsolete focal cognitive seizure with deja vu / jamais vu" ], "HP:0012005": [ "deja vu aura", "deja vu" ], "HP:0012006": [ "jamais vu aura", "jamais vu" ], "HP:0012007": [ "focal cognitive seizure with hallucination", "hallucinatory aura", "hallucinatory auras", "obsolete hallucinatory aura" ], "HP:0032703": [ "focal cognitive seizure with hallucination", "hallucinatory aura", "hallucinatory auras", "obsolete hallucinatory aura" ], "HP:0012008": [ "focal cognitive seizure with illusion", "illusory aura", "illusory auras", "obsolete illusory aura", "obsolete illusory auras" ], "HP:0032695": [ "focal cognitive seizure with illusion", "illusory aura", "illusory auras", "obsolete illusory aura", "obsolete illusory auras" ], "HP:0012009": [ "eeg with central focal spike wave", "eeg with central focal spike waves" ], "HP:0012010": [ "eeg with frontal focal spike wave", "eeg with frontal focal spike waves" ], "HP:0012011": [ "eeg with occipital focal spike wave", "eeg with occipital focal spike waves" ], "HP:0012012": [ "eeg with parietal focal spike wave", "eeg with parietal focal spike waves" ], "HP:0012013": [ "eeg with temporal focal spike wave", "eeg with temporal focal spike waves" ], "HP:0012014": [ "eeg with central focal spike", "eeg with central focal spikes" ], "HP:0012015": [ "eeg with frontal focal spike", "eeg with frontal focal spikes" ], "HP:0012016": [ "eeg with occipital focal spike", "eeg with occipital focal spikes" ], "HP:0012017": [ "eeg with parietal focal spike", "eeg with parietal focal spikes" ], "HP:0012018": [ "eeg with temporal focal spike", "eeg with temporal focal spikes" ], "HP:0012019": [ "lens luxation", "dislocate lens", "dislocated lens", "dislocated lenses" ], "HP:0012020": [ "right aortic arch", "right - side aortic arch", "right - sided aortic arch" ], "HP:0012021": [ "persistent patent ductus venosus" ], "HP:0012022": [ "congenital portosystemic venous shunt" ], "HP:0012023": [ "galactosuria", "increase urinary galactose level", "increased urinary galactose level" ], "HP:0012024": [ "hypergalactosemia", "galactosemia" ], "HP:0012025": [ "abnormal circulate ornithine concentration", "abnormal circulating ornithine concentration" ], "HP:0012026": [ "hyperornithinemia", "high blood ornithine level", "high blood ornithine levels" ], "HP:0012027": [ "laryngeal edema", "laryngeal oedema" ], "HP:0012028": [ "hepatocellular adenoma", "hepatic adenoma", "liver cell adenoma" ], "HP:0012029": [ "abnormal urine hormone level", "abnormality of urine hormone level" ], "HP:0012030": [ "increase urinary cortisol level", "increased urinary cortisol level", "high urine cortisol level" ], "HP:0012031": [ "lipomatous tumor", "lipomatous tumour" ], "HP:0012032": [ "lipoma", "fatty lump", "noncancerous fatty lump" ], "HP:0012033": [ "sacral lipoma" ], "HP:0012034": [ "liposarcoma" ], "HP:0012035": [ "steatocystoma multiplex" ], "HP:0012036": [ "sternocleidomastoid amyotrophy" ], "HP:0012037": [ "pectoralis amyotrophy", "wasting of pec muscle", "wasting of pec muscles" ], "HP:0012038": [ "corneal guttata", "corneal endothelial guttata" ], "HP:0012039": [ "descemet membrane fold", "descemet membrane folds" ], "HP:0012040": [ "corneal stromal edema", "corneal stromal oedema" ], "HP:0012041": [ "decrease fertility in male", "decreased fertility in males" ], "HP:0012042": [ "aspirin - induced asthma" ], "HP:0012043": [ "pendular nystagmus", "nystagmus , continuous pendular", "nystagmus , pendular" ], "HP:0012044": [ "seesaw nystagmus" ], "HP:0012045": [ "retinal fleck", "retinal flecks" ], "HP:0012046": [ "areflexia of upper limb", "areflexia of upper limbs" ], "HP:0012047": [ "hemeralopia", "day blindness" ], "HP:0012048": [ "oromandibular dystonia", "cranial dystonia" ], "HP:0001494": [ "oromandibular dystonia", "cranial dystonia" ], "HP:0012049": [ "laryngeal dystonia", "spasmodic dysphonia" ], "HP:0012050": [ "anasarca", "extreme generalise oedema", "extreme generalised oedema", "extreme generalize edema", "extreme generalized edema" ], "HP:0012051": [ "reactive hypoglycemia", "low blood sugar after a meal", "postprandial hypoglycemia" ], "HP:0012052": [ "low serum calcitriol", "low serum 1,25 - dihydroxycholecalciferol", "low serum 1,25 - dihydroxyvitamin d3" ], "HP:0012053": [ "decrease circulate calcifediol concentration", "decreased circulating calcifediol concentration", "decrease 25 - hydroxyvitamin d3", "decreased 25 - hydroxyvitamin d3", "low serum 25 - hydroxycholecalciferol", "low serum calcidiol", "low serum calcifediol" ], "HP:0012054": [ "choroidal melanoma" ], "HP:0012055": [ "ciliary body melanoma" ], "HP:0012056": [ "cutaneous melanoma" ], "HP:0012057": [ "superficial spreading melanoma" ], "HP:0012058": [ "nodular melanoma" ], "HP:0012059": [ "lentigo maligna melanoma" ], "HP:0012060": [ "acral lentiginous melanoma" ], "HP:0012061": [ "urinary excretion of sialylated oligosaccharide", "urinary excretion of sialylated oligosaccharides", "increase urinary sialyloligosaccharides", "increased urinary sialyloligosaccharides" ], "HP:0012062": [ "bone cyst", "bone cysts" ], "HP:0100696": [ "bone cyst", "bone cysts" ], "HP:0012063": [ "aneurysmal bone cyst" ], "HP:0012064": [ "unicameral bone cyst" ], "HP:0012065": [ "multiple bony cystic lesion", "multiple bony cystic lesions" ], "HP:0012066": [ "increase urinary disaccharide excretion", "increased urinary disaccharide excretion" ], "HP:0012067": [ "glycopeptiduria", "high urine glycopeptide level", "high urine glycopeptide levels" ], "HP:0012068": [ "aspartylglucosaminuria", "high urine aspartylglucosamine level", "high urine aspartylglucosamine levels" ], "HP:0012069": [ "keratan sulfate excretion in urine", "keratan sulphate excretion in urine" ], "HP:0012070": [ "chondroitin sulfate excretion in urine", "chondroitin sulphate excretion in urine" ], "HP:0012071": [ "abnormal circulate acetylcarnitine concentration", "abnormal circulating acetylcarnitine concentration", "abnormal acetylcarnitine profile", "abnormal circulate esterified carnitine concentration", "abnormal circulating esterified carnitine concentration" ], "HP:0012072": [ "aciduria", "acidic urine" ], "HP:0012073": [ "abnormal urinary acylglycine profile" ], "HP:0012074": [ "tonic pupil", "adie pupil", "adie 's tonic pupil" ], "HP:0012075": [ "personality disorder" ], "HP:0012076": [ "borderline personality disorder" ], "HP:0012077": [ "histrionic personality disorder" ], "HP:0012078": [ "motor conduction block" ], "HP:0012079": [ "abnormality of central motor conduction" ], "HP:0012080": [ "cerebellar granular layer atrophy" ], "HP:0012081": [ "enlarge cerebellum", "enlarged cerebellum" ], "HP:0012082": [ "cerebellar purkinje layer atrophy" ], "HP:0012083": [ "ubiquitin - positive cerebral inclusion body", "ubiquitin - positive cerebral inclusion bodies" ], "HP:0012084": [ "abnormality of skeletal muscle fiber size", "abnormality of skeletal muscle fibre size" ], "HP:0012085": [ "pyuria", "high urine neutrophil count", "leukocyturia" ], "HP:0012086": [ "abnormal urinary color", "abnormal urinary colour", "abnormal urine color", "abnormal urine colour" ], "HP:0012087": [ "abnormal mitochondrial shape" ], "HP:0012088": [ "abnormal urinary odor", "abnormal urinary odour", "abnormal urine smell" ], "HP:0012089": [ "arteritis", "inflammation of artery" ], "HP:0012090": [ "abnormal pancreas morphology", "abnormality of pancreas morphology", "abnormally shape pancreas", "abnormally shaped pancreas" ], "HP:0012091": [ "abnormality of pancreas physiology" ], "HP:0012092": [ "abnormality of exocrine pancreas physiology", "abnormal exocrine pancreatic function" ], "HP:0012093": [ "abnormality of endocrine pancreas physiology" ], "HP:0012094": [ "abnormal pancreas size" ], "HP:0012095": [ "multiple joint dislocation", "multiple joint dislocations" ], "HP:0012096": [ "intracranial epidermoid cyst" ], "HP:0012097": [ "intracranial dermoid cyst" ], "HP:0012098": [ "edema of the dorsum of foot", "edema of the dorsum of feet", "edema of dorsum of foot", "edema of dorsum of feet", "oedema of dorsum of foot", "oedema of dorsum of feet", "oedema of the dorsum of foot", "oedema of the dorsum of feet" ], "HP:0012099": [ "abnormality of circulate catecholamine level", "abnormality of circulating catecholamine level", "catecholamine level abnormal", "catecholamine levels abnormal" ], "HP:0012100": [ "abnormal circulate creatinine concentration", "abnormal circulating creatinine concentration", "abnormal blood creatinine level", "abnormal circulate creatinine level", "abnormal circulating creatinine level", "creatinine level abnormal", "creatinine levels abnormal" ], "HP:0012101": [ "decrease serum creatinine", "decreased serum creatinine", "low blood creatinine level", "reduce creatinine level", "reduced creatinine levels" ], "HP:0012102": [ "abnormal mitochondrial number" ], "HP:0012103": [ "abnormality of the mitochondrion", "mitochondrial abnormality", "mitochondrial abnormalities" ], "HP:0012104": [ "parietal cortical atrophy" ], "HP:0012105": [ "occipital cortical atrophy" ], "HP:0012106": [ "rhizomelic leg shorten", "rhizomelic leg shortening" ], "HP:0012107": [ "increase fibular diameter", "increased fibular diameter", "thick fibula", "thick fibulae", "wide calf bone", "wide fibula" ], "HP:0200082": [ "increase fibular diameter", "increased fibular diameter", "thick fibula", "thick fibulae", "wide calf bone", "wide fibula" ], "HP:0012108": [ "open angle glaucoma", "primary open angle glaucoma" ], "HP:0012109": [ "angle closure glaucoma", "primary angle closure glaucoma" ], "HP:0012110": [ "hypoplasia of the pons", "pontine hypoplasia" ], "HP:0012111": [ "abnormality of circulate glucocorticoid level", "abnormality of circulating glucocorticoid level" ], "HP:0012112": [ "abnormal circulate corticosterone level", "abnormal circulating corticosterone level", "abnormality of circulate corticosterone level", "abnormality of circulating corticosterone level" ], "HP:0012113": [ "abnormal circulate creatine concentration", "abnormal circulating creatine concentration", "abnormality of creatine metabolism", "creatine metabolism abnormal" ], "HP:0012114": [ "endometrial carcinoma" ], "HP:0012115": [ "hepatitis", "liver inflammation" ], "HP:0012116": [ "abnormal circulate albumin concentration", "abnormal circulating albumin concentration", "abnormal albumin level" ], "HP:0012117": [ "hyperalbuminemia", "high albumin", "high blood albumin level", "high blood albumin levels", "hyperalbuminaemia" ], "HP:0012118": [ "laryngeal carcinoma", "cancer of the larynx", "laryngeal cancer" ], "HP:0012119": [ "methemoglobinemia" ], "HP:0012120": [ "methylmalonic aciduria", "high blood methylmalonic acid level", "high blood methylmalonic acid levels", "methymalonicaciduria" ], "HP:0012121": [ "panuveitis" ], "HP:0012122": [ "anterior uveitis" ], "HP:0012123": [ "posterior uveitis", "choroiditis" ], "HP:0012124": [ "intermediate uveitis" ], "HP:0012125": [ "prostate cancer", "prostatic cancer" ], "HP:0012126": [ "stomach cancer", "gastric cancer" ], "HP:0012127": [ "uraciluria", "high urine uracil level", "high urine uracil levels" ], "HP:0012128": [ "basal ganglion necrosis", "basal ganglia necrosis" ], "HP:0012129": [ "abnormality of bone marrow stromal cell", "abnormality of bone marrow stromal cells" ], "HP:0012130": [ "abnormal erythroid lineage cell morphology", "abnormality of cell of the erythroid lineage", "abnormality of cells of the erythroid lineage" ], "HP:0012131": [ "abnormal number of erythroid precursor", "abnormal number of erythroid precursors" ], "HP:0012132": [ "erythroid hyperplasia", "bone marrow biopsy show erythroid hyperplasia", "bone marrow biopsy shows erythroid hyperplasia", "bone marrow smear show erythroid hyperplasia", "bone marrow smear shows erythroid hyperplasia" ], "HP:0012133": [ "erythroid hypoplasia", "erythroblastopenia", "erythroid hypoplasia in the bone marrow" ], "HP:0012134": [ "dysplastic erythropoesis" ], "HP:0012135": [ "abnormal granulocytopoietic cell morphology", "abnormality of cell of the granulocytic lineage", "abnormality of cells of the granulocytic lineage" ], "HP:0012136": [ "dysplastic granulopoesis" ], "HP:0012137": [ "abnormal number of granulocyte precursor", "abnormal number of granulocyte precursors" ], "HP:0012138": [ "granulocytic hyperplasia" ], "HP:0012139": [ "granulocytic hypoplasia" ], "HP:0012142": [ "pancreatic squamous cell carcinoma", "squamous cell carcinoma of the pancreas" ], "HP:0012143": [ "abnormal megakaryocyte morphology", "abnormality of cell of the megakaryocyte lineage", "abnormality of cells of the megakaryocyte lineage" ], "HP:0012144": [ "abnormal monocyte morphology" ], "HP:0012145": [ "abnormality of multiple cell lineage in the bone marrow", "abnormality of multiple cell lineages in the bone marrow" ], "HP:0012146": [ "abnormality of von willebrand factor" ], "HP:0012147": [ "reduce quantity of von willebrand factor", "reduced quantity of von willebrand factor", "decrease von willebrand factor", "decreased von willebrand factor" ], "HP:0012148": [ "multiple lineage myelodysplasia" ], "HP:0012149": [ "bilineage myelodysplasia" ], "HP:0012150": [ "single lineage myelodysplasia" ], "HP:0012151": [ "hemothorax" ], "HP:0012152": [ "foveoschisis", "retinoschisis involve the fovea", "retinoschisis involving the fovea" ], "HP:0012153": [ "hypotriglyceridemia", "decrease circulate tg level", "decreased circulating tg levels", "decrease plasma tg level", "decreased plasma tg levels", "low blood triglyceride level", "low blood triglyceride levels" ], "HP:0012154": [ "anhedonia" ], "HP:0012155": [ "decrease corneal sensation", "decreased corneal sensation", "corneal hypaesthesia", "corneal hypesthesia", "decrease corneal sensitivity", "decreased corneal sensitivity", "reduce corneal sensation", "reduced corneal sensation" ], "HP:0012156": [ "hemophagocytosis" ], "HP:0012157": [ "subcortical cerebral atrophy" ], "HP:0012158": [ "carotid artery dissection" ], "HP:0012159": [ "internal carotid artery dissection" ], "HP:0012160": [ "intracranial internal carotid artery dissection" ], "HP:0012161": [ "external carotid artery dissection" ], "HP:0012162": [ "common carotid artery dissection" ], "HP:0012163": [ "carotid artery dilatation", "carotid artery aneurysm" ], "HP:0012164": [ "asterixis" ], "HP:0012165": [ "oligodactyly" ], "HP:0012166": [ "skin - picking", "compulsive skin picking", "dermatillomania" ], "HP:0012167": [ "hair - pulling", "trichotillomania" ], "HP:0012168": [ "head - banging" ], "HP:0012169": [ "self - biting" ], "HP:0012170": [ "nail - biting", "onychophagia", "onychophagy" ], "HP:0012171": [ "stereotypical hand wring", "stereotypical hand wringing" ], "HP:0012172": [ "stereotypical body rock", "stereotypical body rocking" ], "HP:0012173": [ "orthostatic tachycardia", "postural tachycardia" ], "HP:0012174": [ "glioblastoma multiforme", "glioblastoma", "obsolete glioblastoma" ], "HP:0100843": [ "glioblastoma multiforme", "glioblastoma", "obsolete glioblastoma" ], "HP:0012175": [ "resistance to activate protein c", "resistance to activated protein c", "activate protein c resistance", "activated protein c resistance" ], "HP:0012176": [ "abnormal natural killer cell morphology", "abnormal nk cell", "abnormal nk cells", "abnormality of natural killer cell", "abnormality of natural killer cells" ], "HP:0012177": [ "abnormal natural killer cell physiology" ], "HP:0012178": [ "reduced natural killer cell activity" ], "HP:0012179": [ "craniofacial dystonia", "abnormal craniofacial muscle tone", "abnormal craniofacial posture", "abnormal facial muscle tone", "distort craniofacial posture", "distorted craniofacial posture", "facial dystonia" ], "HP:0012180": [ "cystic medial necrosis", "arterial cystic medial necrosis" ], "HP:0200145": [ "cystic medial necrosis", "arterial cystic medial necrosis" ], "HP:0012181": [ "entrapment neuropathy" ], "HP:0012182": [ "oropharyngeal squamous cell carcinoma" ], "HP:0012183": [ "hyperplastic colonic polyposis" ], "HP:0012184": [ "increase hdl cholesterol concentration", "increased hdl cholesterol concentration", "high blood hdl level", "hyperalphalipoproteinemia", "increase circulate high - density lipoprotein level", "increased circulating high - density lipoprotein levels" ], "HP:0012185": [ "constrictive median neuropathy", "carpal tunnel syndrome" ], "HP:0012186": [ "entrapment neuropathy of the ulnar nerve at elbow" ], "HP:0012187": [ "increase erythrocyte protoporphyrin concentration", "increased erythrocyte protoporphyrin concentration" ], "HP:0012188": [ "hyperemesis gravidarum" ], "HP:0012189": [ "hodgkin lymphoma", "hodgkin disease", "hodgkin 's lymphoma" ], "HP:0012190": [ "t - cell lymphoma", "t cell lymphoma" ], "HP:0012191": [ "b - cell lymphoma", "b cell lymphoma" ], "HP:0012192": [ "cutaneous t - cell lymphoma" ], "HP:0012193": [ "anaplastic large - cell lymphoma" ], "HP:0012194": [ "episodic hemiplegia" ], "HP:0012195": [ "irregular respiration", "irregular respiratory rhythm" ], "HP:0012196": [ "cheyne - stokes respiration", "cheyne - stokes breathe", "cheyne - stokes breathing", "periodic respiration" ], "HP:0012197": [ "insulinoma", "pancreatic insulinoma" ], "HP:0012198": [ "juvenile colonic polyposis" ], "HP:0012199": [ "cluster headache" ], "HP:0012200": [ "abnormality of prothrombin" ], "HP:0012202": [ "increase serum bile acid concentration", "increased serum bile acid concentration" ], "HP:0012203": [ "onychomycosis" ], "HP:0012204": [ "recurrent vulvovaginal candidiasis" ], "HP:0012205": [ "globozoospermia" ], "HP:0012206": [ "abnormal sperm motility" ], "HP:0012207": [ "reduce sperm motility", "reduced sperm motility", "asthenospermia" ], "HP:0012208": [ "immotile sperm", "nonmotile sperm" ], "HP:0012209": [ "juvenile myelomonocytic leukemia", "juvenile myelomonocytic leukaemia" ], "HP:0012210": [ "abnormal renal morphology", "abnormal kidney morphology", "abnormally shape kidney", "abnormally shaped kidney", "kidney malformation", "kidney structure issue", "renal malformation", "structural anomaly of the renal tract", "structural anomalies of the renal tract", "structural kidney abnormality", "structural kidney abnormalities", "structural renal anomaly", "structural renal anomalies" ], "HP:0000792": [ "abnormal renal morphology", "abnormal kidney morphology", "abnormally shape kidney", "abnormally shaped kidney", "kidney malformation", "kidney structure issue", "renal malformation", "structural anomaly of the renal tract", "structural anomalies of the renal tract", "structural kidney abnormality", "structural kidney abnormalities", "structural renal anomaly", "structural renal anomalies" ], "HP:0004726": [ "abnormal renal morphology", "abnormal kidney morphology", "abnormally shape kidney", "abnormally shaped kidney", "kidney malformation", "kidney structure issue", "renal malformation", "structural anomaly of the renal tract", "structural anomalies of the renal tract", "structural kidney abnormality", "structural kidney abnormalities", "structural renal anomaly", "structural renal anomalies" ], "HP:0004735": [ "abnormal renal morphology", "abnormal kidney morphology", "abnormally shape kidney", "abnormally shaped kidney", "kidney malformation", "kidney structure issue", "renal malformation", "structural anomaly of the renal tract", "structural anomalies of the renal tract", "structural kidney abnormality", "structural kidney abnormalities", "structural renal anomaly", "structural renal anomalies" ], "HP:0008712": [ "abnormal renal morphology", "abnormal kidney morphology", "abnormally shape kidney", "abnormally shaped kidney", "kidney malformation", "kidney structure issue", "renal malformation", "structural anomaly of the renal tract", "structural anomalies of the renal tract", "structural kidney abnormality", "structural kidney abnormalities", "structural renal anomaly", "structural renal anomalies" ], "HP:0012211": [ "abnormal renal physiology", "abnormal kidney function", "abnormal renal function", "abnormality of renal physiology", "kidney function issue", "renal functional abnormality" ], "HP:0000082": [ "abnormal renal physiology", "abnormal kidney function", "abnormal renal function", "abnormality of renal physiology", "kidney function issue", "renal functional abnormality" ], "HP:0000087": [ "abnormal renal physiology", "abnormal kidney function", "abnormal renal function", "abnormality of renal physiology", "kidney function issue", "renal functional abnormality" ], "HP:0005566": [ "abnormal renal physiology", "abnormal kidney function", "abnormal renal function", "abnormality of renal physiology", "kidney function issue", "renal functional abnormality" ], "HP:0008646": [ "abnormal renal physiology", "abnormal kidney function", "abnormal renal function", "abnormality of renal physiology", "kidney function issue", "renal functional abnormality" ], "HP:0012212": [ "abnormal glomerular filtration rate", "abnormal gfr" ], "HP:0012213": [ "decrease glomerular filtration rate", "decreased glomerular filtration rate", "decrease gfr", "decreased gfr", "impaired renal creatinine clearance", "reduce creatinine clearance", "reduced creatinine clearance" ], "HP:0000120": [ "decrease glomerular filtration rate", "decreased glomerular filtration rate", "decrease gfr", "decreased gfr", "impaired renal creatinine clearance", "reduce creatinine clearance", "reduced creatinine clearance" ], "HP:0012214": [ "increase glomerular filtration rate", "increased glomerular filtration rate", "increase gfr", "increased gfr" ], "HP:0012215": [ "testicular microlithiasis" ], "HP:0012216": [ "entrapment neuropathy of suprascapular nerve", "suprascapular nerve entrapment" ], "HP:0012217": [ "increase urinary porphobilinogen", "increased urinary porphobilinogen" ], "HP:0012218": [ "alveolar soft part sarcoma" ], "HP:0012219": [ "erythema nodosum" ], "HP:0012220": [ "non - caseate epithelioid cell granulomatosis", "non - caseating epithelioid cell granulomatosis" ], "HP:0012221": [ "pretibial blistering", "pretibial epidermolysis bullosa" ], "HP:0012222": [ "arachnoid hemangiomatosis" ], "HP:0012223": [ "splenic rupture", "rupture spleen", "ruptured spleen" ], "HP:0012224": [ "circulate immune complex", "circulating immune complexes" ], "HP:0012225": [ "oligodontia of primary teeth", "decreased number of baby teeth", "decreased number of deciduous teeth", "decreased number of milk teeth", "decreased number of primary teeth", "failure of development of some deciduous teeth", "failure of development of some primary teeth", "few baby teeth than normal", "fewer baby teeth than normal", "few deciduous teeth than normal", "fewer deciduous teeth than normal", "few primary teeth than normal", "fewer primary teeth than normal", "miss some baby teeth", "missing some baby teeth", "miss some milk teeth", "missing some milk teeth", "miss some primary teeth", "missing some primary teeth", "partial anodontia of deciduous teeth", "partial anodontia of primary teeth" ], "HP:0012226": [ "ovarian teratoma" ], "HP:0012227": [ "urethral stricture" ], "HP:0012228": [ "tension - type headache" ], "HP:0012229": [ "csf pleocytosis", "cerebrospinal fluid pleocytosis", "increase leukocyte count in csf", "increased leukocyte count in csf" ], "HP:0012230": [ "rhegmatogenous retinal detachment" ], "HP:0012231": [ "exudative retinal detachment", "serous retinal detachment" ], "HP:0012232": [ "shorten qt interval", "shortened qt interval" ], "HP:0012233": [ "intramuscular hematoma", "im hematoma", "intramuscular haematoma", "intramuscular haemorrhage", "intramuscular hematomas", "intramuscular hemorrhage" ], "HP:0012234": [ "agranulocytosis" ], "HP:0012235": [ "drug - induced agranulocytosis" ], "HP:0012236": [ "elevate sweat chloride", "elevated sweat chloride", "elevate sweat cl", "elevated sweat cl", "elevate sweat cl -", "elevated sweat cl -" ], "HP:0012237": [ "urocanic aciduria", "high urine urocanic acid level", "high urine urocanic acid levels" ], "HP:0012238": [ "increase circulate chylomicron concentration", "increased circulating chylomicron concentration", "hyperchylomicronemia", "increase chylomicron", "increased chylomicrons", "increase circulate chylomicron level", "increased circulating chylomicron levels" ], "HP:0012239": [ "atransferrinemia" ], "HP:0012240": [ "increase intramyocellular lipid droplet", "increased intramyocellular lipid droplets", "increase muscle lipid droplet", "increased muscle lipid droplets" ], "HP:0012241": [ "levator palpebrae superioris atrophy" ], "HP:0012242": [ "superior rectus atrophy", "rectus superior atrophy" ], "HP:0012243": [ "abnormal reproductive system morphology", "abnormal genital system morphology" ], "HP:0012244": [ "abnormal sex determination" ], "HP:0012245": [ "sex reversal" ], "HP:0012246": [ "oculomotor nerve palsy", "oculomotor neuropathy" ], "HP:0012247": [ "specific anosmia" ], "HP:0012248": [ "prolonged pr interval", "electrocardiographic long pr interval", "lengthen pr interval on ekg", "lengthened pr interval on ekg" ], "HP:0012249": [ "abnormal st segment" ], "HP:0012250": [ "st segment depression" ], "HP:0012251": [ "st segment elevation" ], "HP:0012252": [ "abnormal respiratory system morphology" ], "HP:0012253": [ "abnormal respiratory epithelium morphology" ], "HP:0012254": [ "ewing sarcoma", "ewing 's sarcoma" ], "HP:0012255": [ "dynein arm defect of respiratory motile cilium", "dynein arm defect of respiratory motile cilia" ], "HP:0012256": [ "absent outer dynein arm", "absent outer dynein arms" ], "HP:0012257": [ "absent inner dynein arm", "absent inner dynein arms" ], "HP:0012258": [ "abnormal axonemal organization of respiratory motile cilium", "abnormal axonemal organization of respiratory motile cilia", "abnormal axonemal organisation of respiratory motile cilium", "abnormal axonemal organisation of respiratory motile cilia" ], "HP:0012259": [ "absent inner and outer dynein arm", "absent inner and outer dynein arms" ], "HP:0012260": [ "abnormal central microtubular pair morphology of respiratory motile cilium", "abnormal central microtubular pair morphology of respiratory motile cilia" ], "HP:0012261": [ "abnormal respiratory motile cilium physiology" ], "HP:0012262": [ "abnormal ciliary motility" ], "HP:0012263": [ "immotile cilium", "immotile cilia" ], "HP:0012264": [ "absent central microtubular pair morphology of respiratory motile cilium", "absent central microtubular pair morphology of respiratory motile cilia" ], "HP:0012265": [ "ciliary dyskinesia", "lack of coordinated beating of respiratory cilium", "lack of coordinated beating of respiratory cilia" ], "HP:0012266": [ "t - wave alternans" ], "HP:0012267": [ "absent respiratory ciliary axoneme radial spoke", "absent respiratory ciliary axoneme radial spokes" ], "HP:0012268": [ "myxoid liposarcoma" ], "HP:0012269": [ "abnormal muscle glycogen content" ], "HP:0012270": [ "decreased muscle glycogen content" ], "HP:0012271": [ "episodic upper airway obstruction" ], "HP:0012272": [ "j wave", "ekg j wave", "ekg j waves", "osborne wave", "osborne waves" ], "HP:0012273": [ "increase carotid artery intimal medial thickness", "increased carotid artery intimal medial thickness" ], "HP:0012274": [ "autosomal dominant inheritance with paternal imprinting" ], "HP:0012275": [ "autosomal dominant inheritance with maternal imprinting" ], "HP:0012276": [ "digital flexor tenosynovitis", "trigger finger" ], "HP:0012277": [ "hypoglycinemia", "low blood glycine level", "low blood glycine levels" ], "HP:0012278": [ "abnormal circulate serine concentration", "abnormal circulating serine concentration" ], "HP:0012279": [ "hyposerinemia", "low blood serine level", "low blood serine levels" ], "HP:0012280": [ "hepatic amyloidosis" ], "HP:0012281": [ "chylous ascites", "chyloperitoneum" ], "HP:0012282": [ "morbilliform rash" ], "HP:0012283": [ "small distal femoral epiphysis", "small end part of outermost thighbone" ], "HP:0012284": [ "small proximal tibial epiphysis", "small proximal tibial epiphyses", "small end part of innermost shankbone", "small end part of innermost shinbone" ], "HP:0012285": [ "abnormal hypothalamus physiology" ], "HP:0012286": [ "abnormal hypothalamus morphology", "abnormal shape of hypothalamus", "abnormality of hypothalamus morphology", "abnormality of the hypothalamus" ], "HP:0002443": [ "abnormal hypothalamus morphology", "abnormal shape of hypothalamus", "abnormality of hypothalamus morphology", "abnormality of the hypothalamus" ], "HP:0012287": [ "hypothalamic luteinizing hormone - release hormone deficiency", "hypothalamic luteinizing hormone - releasing hormone deficiency" ], "HP:0012288": [ "neoplasm of head and neck", "head and neck cancer", "head and neck tumor", "head and neck tumour" ], "HP:0012289": [ "facial neoplasm", "face tumor", "face tumour" ], "HP:0012290": [ "mouth neoplasm", "lesion of mouth", "mouth tumor", "mouth tumour", "neoplasm of the mouth" ], "HP:0012291": [ "obsolete tracheal neoplasm", "neoplasm of the trachea", "tracheal neoplasm" ], "HP:0012292": [ "fusion of gum", "fusion of gums", "fusion of the gingiva", "gingival synechia", "partial fusion of the gum", "partial fusion of the gums", "synechia of the gum", "synechia of the gums", "upper and low gum fuse together", "upper and lower gums fused together" ], "HP:0012293": [ "abnormal genital pigmentation" ], "HP:0012294": [ "abnormal occipital bone morphology", "abnormality of the occipital bone" ], "HP:0012295": [ "slender middle phalanx of finger", "slender middle bone of finger" ], "HP:0012296": [ "slender distal phalanx of finger", "slender outermost bone of finger" ], "HP:0012297": [ "slender proximal phalanx of finger", "slender innermost bone of finger" ], "HP:0012298": [ "long middle phalanx of finger", "long middle bone of finger" ], "HP:0012299": [ "long distal phalanx of finger", "long outermost bone of finger" ], "HP:0012300": [ "ureteral agenesis" ], "HP:0012301": [ "type ii transferrin isoform profile", "abnormal isoelectric focusing of serum transferrin , type 2 pattern", "abnormal isoelectric focusing of serum transferrin , type ii pattern", "isoelectric focusing of serum transferrin consistent with cdg type ii", "type 2 transferrin isoform profile" ], "HP:0012302": [ "herpes simplex encephalitis" ], "HP:0012303": [ "abnormal aortic arch morphology", "abnormality of the aortic arch" ], "HP:0012304": [ "hypoplastic aortic arch", "aortic arch hypoplasia", "underdeveloped aortic arch" ], "HP:0012305": [ "coarctation of the descend aortic arch", "coarctation of the descending aortic arch" ], "HP:0012306": [ "abnormal rib ossification", "abnormal maturation of rib bone", "abnormal maturation of rib bones" ], "HP:0012307": [ "spatulate rib", "spatulate ribs" ], "HP:0012308": [ "decrease serum complement c9", "decreased serum complement c9", "decrease serum c9", "decreased serum c9" ], "HP:0012309": [ "cutaneous amyloidosis" ], "HP:0012310": [ "abnormal monocyte count", "abnormal monocyte number" ], "HP:0012311": [ "monocytosis", "high blood monocyte number" ], "HP:0012312": [ "monocytopenia", "low blood monocyte number" ], "HP:0012313": [ "heberden 's node" ], "HP:0012314": [ "bouchard 's node" ], "HP:0012315": [ "histiocytoma" ], "HP:0012316": [ "fibrous tissue neoplasm" ], "HP:0012317": [ "sacroiliac arthritis", "sacroiliitis" ], "HP:0012318": [ "occipital neuralgia" ], "HP:0012319": [ "absent pigmentation of the abdomen" ], "HP:0012320": [ "absent pigmentation of the limb", "absent pigmentation of the limbs" ], "HP:0012321": [ "d - 2 - hydroxyglutaric aciduria" ], "HP:0012322": [ "perifolliculitis", "perifollicular inflammation" ], "HP:0012323": [ "sleep myoclonus" ], "HP:0012324": [ "myeloid leukemia", "myeloid leukaemia" ], "HP:0012325": [ "chronic myelomonocytic leukemia", "chronic myelomonocytic leukaemia" ], "HP:0012326": [ "abnormal celiac artery morphology", "abnormal coeliac artery morphology", "abnormality of the celiac artery", "abnormality of the coeliac artery" ], "HP:0012327": [ "celiac artery compression", "celiac axis syndrome", "coeliac artery compression", "coeliac axis syndrome", "dunbar syndrome", "median arcuate ligament syndrome" ], "HP:0012328": [ "cementoma" ], "HP:0012329": [ "tufted angioma", "angioblastoma", "angioblastoma of nakagawa", "hypertrophic hemangioma", "progressive capillary hemangioma", "tufted hemangioma" ], "HP:0012330": [ "pyelonephritis" ], "HP:0012331": [ "abnormal autonomic nervous system morphology" ], "HP:0012332": [ "obsolete dysautonomia", "obsolete autonomic dysregulation", "abnormal autonomic nervous system physiology", "autonomic dysfunction", "autonomic dysregulation", "dysautonomia" ], "HP:0002387": [ "obsolete autonomic dysregulation", "abnormal autonomic nervous system physiology", "autonomic dysfunction", "autonomic dysregulation", "dysautonomia" ], "HP:0007310": [ "obsolete dysautonomia", "obsolete autonomic dysregulation", "abnormal autonomic nervous system physiology", "autonomic dysfunction", "autonomic dysregulation", "dysautonomia" ], "HP:0012333": [ "abnormal sudomotor regulation", "sudomotor sympathetic dysfunction" ], "HP:0012334": [ "extrahepatic cholestasis" ], "HP:0012335": [ "abnormality of folate metabolism" ], "HP:0012336": [ "obsolete reduce cerebrospinal fluid 5 - methyltetrahydrofolate concentration", "obsolete reduced cerebrospinal fluid 5 - methyltetrahydrofolate concentration", "decrease csf 5 - methyltetrahydrofolate concentration", "decreased csf 5 - methyltetrahydrofolate concentration", "cerebral folate deficiency", "low csf 5 - methyltetrahydrofolate", "reduce csf 5 - methyltetrahydrofolate concentration", "reduced csf 5 - methyltetrahydrofolate concentration" ], "HP:0012337": [ "abnormal homeostasis" ], "HP:0012338": [ "abnormal energy expenditure" ], "HP:0012339": [ "increase rest energy expenditure", "increased resting energy expenditure" ], "HP:0012340": [ "decrease rest energy expenditure", "decreased resting energy expenditure" ], "HP:0012341": [ "microprolactinoma" ], "HP:0012342": [ "macroprolactinoma" ], "HP:0012343": [ "decrease circulate ferritin concentration", "decreased circulating ferritin concentration", "decrease plasma ferritin", "decreased plasma ferritin", "decrease serum ferritin", "decreased serum ferritin", "low ferritin level", "reduce serum ferritin", "reduced serum ferritin" ], "HP:0012344": [ "morphea" ], "HP:0012345": [ "abnormal glycosylation" ], "HP:0012346": [ "abnormal protein glycosylation" ], "HP:0012347": [ "abnormal protein n - link glycosylation", "abnormal protein n - linked glycosylation" ], "HP:0012348": [ "decreased galactosylation of n - link protein glycosylation", "decreased galactosylation of n - linked protein glycosylation" ], "HP:0012349": [ "abnormal sialylation of n - link protein glycosylation", "abnormal sialylation of n - linked protein glycosylation" ], "HP:0012350": [ "decreased sialylation of n - link protein glycosylation", "decreased sialylation of n - linked protein glycosylation" ], "HP:0012351": [ "increase sialylation of n - link protein glycosylation", "increased sialylation of n - linked protein glycosylation" ], "HP:0012352": [ "abnormal fucosylation of protein n - link glycosylation", "abnormal fucosylation of protein n - linked glycosylation" ], "HP:0012353": [ "decreased fucosylation of n - link protein glycosylation", "decreased fucosylation of n - linked protein glycosylation" ], "HP:0012354": [ "increase fucosylation of n - link protein glycosylation", "increased fucosylation of n - linked protein glycosylation" ], "HP:0012355": [ "abnormal mannosylation of n - link protein glycosylation", "abnormal mannosylation of n - linked protein glycosylation" ], "HP:0012356": [ "decreased mannosylation of n - link protein glycosylation", "decreased mannosylation of n - linked protein glycosylation" ], "HP:0012357": [ "increase mannosylation of n - link protein glycosylation", "increased mannosylation of n - linked protein glycosylation" ], "HP:0012358": [ "abnormal protein o - link glycosylation", "abnormal protein o - linked glycosylation" ], "HP:0012359": [ "abnormal fucosylation of o - link protein glycosylation", "abnormal fucosylation of o - linked protein glycosylation" ], "HP:0012360": [ "decreased fucosylation of o - link protein glycosylation", "decreased fucosylation of o - linked protein glycosylation" ], "HP:0012361": [ "increase fucosylation of o - link protein glycosylation", "increased fucosylation of o - linked protein glycosylation" ], "HP:0012362": [ "abnormal sialylation of o - link protein glycosylation", "abnormal sialylation of o - linked protein glycosylation" ], "HP:0012363": [ "decreased sialylation of o - link protein glycosylation", "decreased sialylation of o - linked protein glycosylation" ], "HP:0012364": [ "decrease urinary potassium", "decreased urinary potassium", "decrease urinary k", "decreased urinary k", "hypokaliuria", "hypokaluria", "low urine potassium level", "low urine potassium levels" ], "HP:0012365": [ "hypophosphaturia", "low urine phosphate level", "low urine phosphate levels" ], "HP:0012366": [ "basilar invagination" ], "HP:0012367": [ "extra fontanelle", "extra fontanelles" ], "HP:0012368": [ "flat face", "flat facial profile", "flat facial shape", "flat facies" ], "HP:0012369": [ "abnormality of malar bone", "abnormality of malar bones", "anomaly of the malar bone", "anomaly of the malar bones", "deformity of the malar bone", "deformity of the malar bones", "malar anomaly", "malformation of the malar bone", "malformation of the malar bones" ], "HP:0012370": [ "prominence of the zygomatic bone", "cheekbone excess", "cheekbone prominence", "hyperplasia of cheekbone", "hyperplasia of zygomatic bone", "malar hypertrophy", "prominence of cheekbone", "pronounce cheekbone", "pronounced cheekbone", "zygomatic bone excess", "zygomatic hypertrophy" ], "HP:0012371": [ "hyperplasia of midface", "big midface", "hypertrophy of midface", "large midface", "midface hyperplasia", "midfacial excess", "midfacial prominence", "overgrowth of the midface" ], "HP:0010279": [ "hyperplasia of midface", "big midface", "hypertrophy of midface", "large midface", "midface hyperplasia", "midfacial excess", "midfacial prominence", "overgrowth of the midface" ], "HP:0012372": [ "obsolete abnormality of globe location or size", "abnormal eye morphology", "abnormal eye structure", "abnormality of the globe", "abnormally shape eye", "abnormally shaped eye", "obsolete abnormal globe morphology" ], "HP:0012374": [ "obsolete abnormality of globe location or size", "abnormal eye morphology", "abnormal eye structure", "abnormality of the globe", "abnormally shape eye", "abnormally shaped eye", "obsolete abnormal globe morphology" ], "HP:0012373": [ "abnormal eye physiology" ], "HP:0012375": [ "chemosis" ], "HP:0012376": [ "microphakia", "small lens" ], "HP:0012377": [ "hemianopia", "hemianopsia" ], "HP:0012378": [ "fatigue", "tire", "tired", "tiredness" ], "HP:0012379": [ "abnormal enzyme / coenzyme activity" ], "HP:0012380": [ "reduce carnitine o - palmitoyltransferase level", "reduced carnitine o - palmitoyltransferase level" ], "HP:0012381": [ "delay self - feed during toddler year", "delayed self - feeding during toddler years" ], "HP:0012382": [ "left - to - right shunt" ], "HP:0012383": [ "bidirectional shunt" ], "HP:0012384": [ "rhinitis", "nasal inflammation" ], "HP:0012385": [ "camptodactyly", "permanent flexion of the finger or toe" ], "HP:0012386": [ "absent hallux", "absent big toe", "agenesis of the hallux", "agenesis of the halluces", "aplasia of the hallux", "miss big toe", "missing big toe" ], "HP:0012387": [ "bronchitis" ], "HP:0012388": [ "acute bronchitis" ], "HP:0012389": [ "appendicular hypotonia" ], "HP:0012390": [ "anal fissure", "anal erosion" ], "HP:0012391": [ "hyporeflexia of upper limb", "hyporeflexia of upper limbs" ], "HP:0012392": [ "jaw hyporeflexia", "mandibular hyporeflexia" ], "HP:0012393": [ "allergy" ], "HP:0012394": [ "iodine contrast allergy" ], "HP:0012395": [ "seasonal allergy" ], "HP:0012396": [ "biliary dyskinesia" ], "HP:0012397": [ "aortic atherosclerotic lesion", "aortic atherosclerosis", "atherosclerosis of the aorta", "atherosclerotic change of aorta", "atherosclerotic changes of aorta", "plaque build - up in aorta artery" ], "HP:0012398": [ "peripheral edema", "peripheral oedema" ], "HP:0012399": [ "pressure ulcer", "bedsore", "decubitus ulcer", "pressure sore" ], "HP:0012400": [ "abnormal aldolase level" ], "HP:0012401": [ "abnormal urine alpha - ketoglutarate concentration", "abnormal urinary 2 - oxoglutarate level", "abnormality of urine alpha ketoglutarate concentration" ], "HP:0012402": [ "increase urine alpha - ketoglutarate concentration", "increased urine alpha - ketoglutarate concentration", "elevate urinary 2 - oxoglutarate", "elevated urinary 2 - oxoglutarate" ], "HP:0012403": [ "decrease urine alpha - ketoglutarate concentration", "decreased urine alpha - ketoglutarate concentration", "decrease urinary 2 - oxoglutarate", "decreased urinary 2 - oxoglutarate" ], "HP:0012404": [ "abnormal urine citrate concentration", "abnormal urine citric acid concentration" ], "HP:0012405": [ "hypocitraturia", "decrease urine citrate concentration", "decreased urine citrate concentration" ], "HP:0012406": [ "hypercitraturia", "increase urine citrate concentration", "increased urine citrate concentration" ], "HP:0012407": [ "scissor gait", "scissor walk", "scissors gait" ], "HP:0012408": [ "medullary nephrocalcinosis" ], "HP:0012409": [ "cortical nephrocalcinosis" ], "HP:0012410": [ "pure red cell aplasia", "red cell aplasia" ], "HP:0012411": [ "premature pubarche", "premature pubic hair growth" ], "HP:0012412": [ "premature adrenarche" ], "HP:0012413": [ "notched primary central incisor", "notch front baby tooth", "notched front baby tooth", "notch front deciduous tooth", "notched front deciduous tooth", "notch front primary tooth", "notched front primary tooth", "syphilitic primary incisor" ], "HP:0012414": [ "duodenal atrophy" ], "HP:0012415": [ "abnormal blood gas level" ], "HP:0012416": [ "hypercapnia", "high blood carbon dioxide level", "hypercarbia" ], "HP:0012417": [ "hypocapnia", "hypocarbia", "reduce carbon dioxide in the blood", "reduced carbon dioxide in the blood" ], "HP:0012418": [ "hypoxemia", "hypoxia", "low blood oxygen level" ], "HP:0012419": [ "hyperoxemia" ], "HP:0012420": [ "meconium stain amniotic fluid", "meconium stained amniotic fluid", "meconium staining of amniotic fluid", "meconium - stain amniotic fluid", "meconium - stained amniotic fluid" ], "HP:0012421": [ "congenital absence of foreskin", "absent foreskin", "aposthia" ], "HP:0012422": [ "villous hypertrophy of choroid plexus", "choroid plexus hypertrophy", "diffuse villous hypertrophy of choroid plexus" ], "HP:0012423": [ "colonic inertia" ], "HP:0012424": [ "chorioretinitis" ], "HP:0012425": [ "stercoral ulcer", "colon ulcer", "recto - sigmoid colon stercoral ulcer" ], "HP:0012426": [ "optic disc drusen", "optic nerve head drusen" ], "HP:0012427": [ "excessive femoral anteversion" ], "HP:0012428": [ "prominent calcaneus", "prominent heel bone" ], "HP:0012429": [ "aplasia / hypoplasia of the cerebral white matter", "absent / small cerebral white matter", "absent / underdeveloped cerebral white matter" ], "HP:0012430": [ "cerebral white matter hypoplasia", "paucity of cerebral white matter" ], "HP:0012431": [ "episodic fatigue" ], "HP:0012432": [ "chronic fatigue", "chronic extreme exhaustion" ], "HP:0012433": [ "abnormal social behavior", "abnormal social behaviour", "abnormal social interaction", "abnormal social interactions" ], "HP:0012434": [ "delay social development", "delayed social development" ], "HP:0012435": [ "ventral shortening of foreskin" ], "HP:0012436": [ "nonocclusive coronary artery atherosclerosis", "non - occlusive coronary artery disease", "non - occlusive coronary artery stenosis", "nonocclusive coronary artery disease", "nonocclusive coronary artery stenosis" ], "HP:0012437": [ "abnormal gallbladder morphology", "abnormal gallbladder structure", "abnormal shape of gallbladder" ], "HP:0012438": [ "abnormal gallbladder physiology" ], "HP:0012439": [ "abnormal biliary tract physiology" ], "HP:0012440": [ "abnormal biliary tract morphology", "anomaly of the biliary tract" ], "HP:0012441": [ "sphincter of oddi dyskinesia", "sphincter of oddi dysfunction" ], "HP:0012442": [ "gallbladder dyskinesia" ], "HP:0012443": [ "abnormality of brain morphology", "abnormal shape of brain", "abnormality of the brain" ], "HP:0012444": [ "brain atrophy", "brain degeneration", "brain wasting" ], "HP:0012446": [ "obsolete reduce cerebrospinal fluid 5 - methyltetrahydrofolate concentration", "obsolete reduced cerebrospinal fluid 5 - methyltetrahydrofolate concentration", "decrease csf 5 - methyltetrahydrofolate concentration", "decreased csf 5 - methyltetrahydrofolate concentration", "cerebral folate deficiency", "low csf 5 - methyltetrahydrofolate", "reduce csf 5 - methyltetrahydrofolate concentration", "reduced csf 5 - methyltetrahydrofolate concentration" ], "HP:0012447": [ "abnormal myelination" ], "HP:0012448": [ "delay myelination", "delayed myelination" ], "HP:0012449": [ "sacroiliac joint synovitis" ], "HP:0012450": [ "chronic constipation", "infrequent bowel movement", "infrequent bowel movements" ], "HP:0012451": [ "acute constipation" ], "HP:0012452": [ "restless leg", "restless legs", "restless legs syndrome", "willis - ekbom disease", "wittmaack - ekbom syndrome" ], "HP:0012453": [ "bilateral wrist flexion contracture", "bilateral wrist contracture" ], "HP:0012454": [ "unilateral wrist flexion contracture", "unilateral wrist contracture" ], "HP:0012456": [ "medial arterial calcification" ], "HP:0012457": [ "medial calcification of medium - sized artery", "medial calcification of medium - sized arteries" ], "HP:0012458": [ "medial calcification of small artery", "medial calcification of small arteries" ], "HP:0012459": [ "hypnic headache", "alarm clock headache" ], "HP:0012460": [ "dysmorphic inferior cerebellar vermis" ], "HP:0012461": [ "bacteriuria", "bacteria in urine", "high urine bacteria" ], "HP:0012462": [ "chin myoclonus", "chin spasm", "chin spasms", "geniospasm" ], "HP:0012463": [ "elevate transferrin saturation", "elevated transferrin saturation" ], "HP:0012464": [ "decrease transferrin saturation", "decreased transferrin saturation" ], "HP:0012465": [ "elevate hepatic iron concentration", "elevated hepatic iron concentration", "increase iron concentration in liver", "increased iron concentration in liver", "increase liver iron level", "increased liver iron level" ], "HP:0012466": [ "chronic respiratory acidosis" ], "HP:0012467": [ "acute respiratory acidosis" ], "HP:0012468": [ "chronic acidosis" ], "HP:0012469": [ "infantile spasm", "infantile spasms" ], "HP:0012470": [ "set - sun eye phenomenon", "setting - sun eye phenomenon", "eye fix downward", "eyes fixed downward", "sun set eye", "sun setting eyes", "sunsetting eye" ], "HP:0012471": [ "thick vermilion border", "full lip", "full lips", "increased volume of lip", "increased volume of lip vermillion", "plump lip", "plump lips", "prominent lip", "prominent lips", "thick lip", "thick lips" ], "HP:0012472": [ "eclabion", "eclabium", "evert lip", "everted lips", "outward turn lip", "outward turned lips" ], "HP:0012473": [ "tongue atrophy", "atrophy of the tongue", "lingual atrophy", "lingual wasting", "wasting of the tongue" ], "HP:0012474": [ "carotid artery occlusion", "obstruct carotid artery", "obstructed carotid artery" ], "HP:0012475": [ "decrease circulate level of specific antibody", "decreased circulating level of specific antibody", "abnormal specific antibody response", "decrease specific antibody in blood", "decreased specific antibody in blood", "specific antibody deficiency" ], "HP:0012476": [ "decrease specific pneumococcal antibody level", "decreased specific pneumococcal antibody level", "low pneumococcal antibody titer", "specific pneumococcal antibody deficiency" ], "HP:0012477": [ "vocal tremor", "shakey voice" ], "HP:0012478": [ "temporomandibular joint ankylosis", "adhesion of the temporomandibular joint", "ankylosis of temporomandibular joint", "freezing of jaw joint", "freezing of the temporomandibular joint", "rigidity of the temporomandibular joint", "temporomandibular joint fusion" ], "HP:0012479": [ "temporomandibular joint crepitus", "jaw joint click sound", "jaw joint clicking sound", "jaw joint crepitus", "jaw joint grate sound", "jaw joint grating sound", "jaw joint noise", "jaw joint pop sound", "jaw joint popping sound", "jaw joint sound", "jaw joint sounds", "temporomandibular joint click sound", "temporomandibular joint clicking sound", "temporomandibular joint grate sound", "temporomandibular joint grating sound", "temporomandibular joint noise", "temporomandibular joint pop sound", "temporomandibular joint popping sound", "temporomandibular joint sound", "temporomandibular joint sounds" ], "HP:0012480": [ "abnormal cerebral vein morphology", "abnormality of cerebral vein", "abnormality of cerebral veins" ], "HP:0012481": [ "cerebral venous angioma", "developmental venous anomaly" ], "HP:0012482": [ "frontal venous angioma" ], "HP:0012483": [ "abnormal alpha granule", "abnormal alpha granules" ], "HP:0012484": [ "abnormal dense granule", "abnormal dense granules" ], "HP:0012485": [ "abnormal surface - connect open canalicular system", "abnormal surface - connected open canalicular system" ], "HP:0012486": [ "myelitis", "inflammation of spinal cord" ], "HP:0012487": [ "cerebellopontine angle arachnoid cyst" ], "HP:0012488": [ "intraventricular arachnoid cyst" ], "HP:0012489": [ "suprasellar arachnoid cyst" ], "HP:0012490": [ "panniculitis", "inflammation of adipose tissue", "inflammation of fat tissue" ], "HP:0012491": [ "abnormal dense tubular system" ], "HP:0012492": [ "cerebral artery stenosis", "narrowing of a cerebral artery" ], "HP:0012493": [ "middle cerebral artery stenosis" ], "HP:0012494": [ "anterior cerebral artery stenosis" ], "HP:0012495": [ "posterior cerebral artery stenosis" ], "HP:0012496": [ "reduce maximal inspiratory pressure", "reduced maximal inspiratory pressure" ], "HP:0012497": [ "reduce maximal expiratory pressure", "reduced maximal expiratory pressure" ], "HP:0012498": [ "nuchal cord" ], "HP:0012499": [ "descend aortic dissection", "descending aortic dissection", "type b aortic dissection" ], "HP:0012500": [ "verrucous papule", "papillomatous papule" ], "HP:0012501": [ "abnormality of the brainstem white matter" ], "HP:0012502": [ "abnormality of the internal capsule" ], "HP:0012503": [ "abnormality of the pituitary gland", "disorder of pituitary gland" ], "HP:0012504": [ "abnormal size of pituitary gland" ], "HP:0012505": [ "enlarge pituitary gland", "enlarged pituitary gland" ], "HP:0012506": [ "small pituitary gland" ], "HP:0012507": [ "weakness of orbicularis oculus muscle", "weakness of orbicularis oculi muscle", "weakness of orbicularis oculi muscles" ], "HP:0012508": [ "metamorphopsia" ], "HP:0012509": [ "reduce thyroxin - binding globulin", "reduced thyroxin - binding globulin" ], "HP:0012510": [ "extra - axial cerebrospinal fluid accumulation", "extra - axial csf accumulation" ], "HP:0012511": [ "temporal optic disc pallor" ], "HP:0012512": [ "diffuse optic disc pallor" ], "HP:0012513": [ "upper limb pain" ], "HP:0012514": [ "low limb pain", "lower limb pain", "leg pain" ], "HP:0012515": [ "hip flexor weakness" ], "HP:0012516": [ "tetralogy of fallot with pulmonary atresia" ], "HP:0012517": [ "reduced catalase level" ], "HP:0012518": [ "abnormal circle of willis morphology", "abnormality of the cerebral arterial circle" ], "HP:0012519": [ "hypoplastic posterior communicate artery", "hypoplastic posterior communicating artery", "hypoplastic posterior communicating arteries" ], "HP:0012520": [ "dilation of virchow - robin space", "dilation of virchow - robin spaces", "dilate cerebral perivascular space", "dilated cerebral perivascular spaces", "dilate virchow - robin space", "dilated virchow - robin spaces", "perivascular space", "perivascular spaces" ], "HP:0012521": [ "optic nerve aplasia", "absent optic nerve", "aplastic optic nerve" ], "HP:0012522": [ "spider hemangioma" ], "HP:0012523": [ "oral aversion" ], "HP:0012524": [ "abnormal platelet shape" ], "HP:0012525": [ "abnormal alpha granule distribution" ], "HP:0012526": [ "absence of alpha granule", "absence of alpha granules", "gray platelet", "gray platelets", "grey platelet", "grey platelets" ], "HP:0012527": [ "abnormal alpha granule content" ], "HP:0012528": [ "abnormal number of alpha granule", "abnormal number of alpha granules" ], "HP:0012529": [ "abnormal dense granule content" ], "HP:0012530": [ "abnormal number of dense granule", "abnormal number of dense granules" ], "HP:0012531": [ "pain" ], "HP:0012532": [ "chronic pain", "long - lasting pain" ], "HP:0012533": [ "allodynia" ], "HP:0012534": [ "dysesthesia", "dysaesthesia", "dysesthesias", "hyperalgesia", "hyperpathia", "obsolete hyperalgesia" ], "HP:0031005": [ "dysesthesia", "dysaesthesia", "dysesthesias", "hyperalgesia", "hyperpathia", "obsolete hyperalgesia" ], "HP:0012535": [ "abnormal synaptic transmission", "abnormality of neurotransmitter metabolism" ], "HP:0012536": [ "maternal anticardiolipin antibody positive" ], "HP:0012537": [ "food intolerance", "non - allergic food hypersensitivity" ], "HP:0012538": [ "gluten intolerance", "gluten sensitivity" ], "HP:0012539": [ "non - hodgkin lymphoma" ], "HP:0012540": [ "axillary epidermoid cyst", "armpit cyst" ], "HP:0012541": [ "cephalohematoma", "cephalohaematoma" ], "HP:0012542": [ "onychauxis" ], "HP:0012543": [ "hemosiderinuria" ], "HP:0012544": [ "elevated aldolase level" ], "HP:0012545": [ "reduced aldolase level" ], "HP:0012546": [ "skew maternal x inactivation", "skewed maternal x inactivation" ], "HP:0012547": [ "abnormal involuntary eye movement", "abnormal involuntary eye movements" ], "HP:0012548": [ "fatty replacement of skeletal muscle", "skeletal muscle fatty infiltration" ], "HP:0012549": [ "conjunctival lipoma" ], "HP:0012550": [ "colonic varix", "colonic varices" ], "HP:0012551": [ "absent neutrophil specific granule", "absent neutrophil specific granules" ], "HP:0012552": [ "increase neutrophil nuclear projection", "increased neutrophil nuclear projections" ], "HP:0012553": [ "hypoplastic thumbnail", "small thumbnail", "underdeveloped thumbnail" ], "HP:0012554": [ "absent thumbnail" ], "HP:0012555": [ "absent nail of hallux", "absent big toe nail", "absent nail of big toe" ], "HP:0012556": [ "hyperbeta - alaninemia", "high blood beta - alanine level", "high blood beta - alanine levels", "hyperbetaalaninemia" ], "HP:0012557": [ "eeg with centrotemporal focal spike wave", "eeg with centrotemporal focal spike waves" ], "HP:0012558": [ "abnormal t3 / t4 ratio" ], "HP:0012559": [ "increase t3 / t4 ratio", "increased t3 / t4 ratio" ], "HP:0012560": [ "decrease t3 / t4 ratio", "decreased t3 / t4 ratio" ], "HP:0012561": [ "unicuspid aortic valve" ], "HP:0012562": [ "premature epimetaphyseal fusion in hand" ], "HP:0012563": [ "premature epimetaphyseal fusion in foot" ], "HP:0012564": [ "premature epimetaphyseal fusion in tibia" ], "HP:0012565": [ "premature epimetaphyseal fusion in fibula" ], "HP:0012566": [ "premature epimetaphyseal fusion in radius" ], "HP:0012567": [ "premature epimetaphyseal fusion in ulna" ], "HP:0012568": [ "low eyelid edema", "lower eyelid edema", "cellulitis of low eyelid", "cellulitis of lower eyelid", "fullness of low eyelid", "fullness of lower eyelid", "low eyelid oedema", "lower eyelid oedema", "puffiness of low eyelid", "puffiness of lower eyelid", "swelling of low eyelid", "swelling of lower eyelid" ], "HP:0012569": [ "delay menarche", "delayed menarche", "delayed start of first period" ], "HP:0012570": [ "synovial sarcoma", "malignant synovioma" ], "HP:0012571": [ "ureter fissus", "partially duplicate ureter", "partially duplicated ureter" ], "HP:0012572": [ "ureter duplex" ], "HP:0012573": [ "global proximal tubulopathy" ], "HP:0012574": [ "mesangial hypercellularity", "mesangial proliferation" ], "HP:0012575": [ "abnormal nephron morphology", "abnormality of the nephron" ], "HP:0012576": [ "glomerular c3 deposition", "c3 nephropathy", "renal c3 deposition" ], "HP:0012577": [ "thin glomerular basement membrane" ], "HP:0012578": [ "membranous nephropathy", "membranous glomerulonephritis" ], "HP:0012579": [ "minimal change glomerulonephritis", "minimal change disease", "minimal change nephropathy" ], "HP:0012580": [ "calcium phosphate nephrolithiasis", "ca phosphate nephrolithiasis", "ca phosphate urolithiasis", "ca2+ phosphate nephrolitiasis", "ca2+ phosphate urolithiasis", "calcium phosphate urolithiasis" ], "HP:0012581": [ "simple renal cyst", "simple kidney cyst", "solitary renal cyst" ], "HP:0012582": [ "bilateral renal dysplasia" ], "HP:0012583": [ "unilateral renal hypoplasia", "small kidney on one side", "underdeveloped kidney on one side" ], "HP:0012584": [ "bilateral renal hypoplasia" ], "HP:0012585": [ "renal atrophy", "kidney degeneration" ], "HP:0012586": [ "bilateral renal atrophy", "bilateral kidney degeneration" ], "HP:0012587": [ "macroscopic hematuria", "bloody urine", "gross hematuria" ], "HP:0012588": [ "steroid - resistant nephrotic syndrome" ], "HP:0012589": [ "multidrug - resistant nephrotic syndrome" ], "HP:0012590": [ "abnormal urine output" ], "HP:0012591": [ "abnormal urinary electrolyte concentration", "urinary electrolyte imbalance" ], "HP:0012592": [ "albuminuria" ], "HP:0012593": [ "nephrotic range proteinuria" ], "HP:0012594": [ "moderate albuminuria", "high urine albumin level", "high urine albumin levels", "microalbuminuria" ], "HP:0012595": [ "mild proteinuria" ], "HP:0012596": [ "moderate proteinuria" ], "HP:0012597": [ "heavy proteinuria", "severly high blood protein level", "severly high blood protein levels" ], "HP:0012598": [ "abnormal urine potassium concentration", "abnormal urine k concentration" ], "HP:0012599": [ "abnormal urine phosphate concentration" ], "HP:0012600": [ "abnormal urine chloride concentration", "abnormal urine cl concentration", "abnormal urine cl - concentration" ], "HP:0012601": [ "hypochloriduria", "decrease urinary chloride", "decreased urinary chloride", "low urine chloride level", "low urine chloride levels" ], "HP:0012602": [ "renal chloride wasting", "kidney chloride waste", "kidney chloride wasting", "renal cl wasting", "renal cl - wasting" ], "HP:0012603": [ "abnormal urine sodium concentration", "abnormal urine na concentration", "abnormal urine na+ level", "abnormal urine na+ levels" ], "HP:0012604": [ "hyponatriuria", "low urine sodium level", "low urine sodium levels" ], "HP:0012605": [ "hypernatriuria", "increase urinary sodium", "increased urinary sodium" ], "HP:0003608": [ "hypernatriuria", "increase urinary sodium", "increased urinary sodium" ], "HP:0012606": [ "renal sodium wasting", "kidney sodium wasting", "renal na waste", "renal na wasting", "renal na+ wasting" ], "HP:0012607": [ "abnormal urine magnesium concentration" ], "HP:0012608": [ "hypermagnesiuria" ], "HP:0012609": [ "hypomagnesiuria", "decrease urine magnesium", "decreased urine magnesium", "low urine magnesium level", "low urine magnesium levels" ], "HP:0012610": [ "abnormality of urinary uric acid concentration" ], "HP:0012611": [ "increase urinary urate", "increased urinary urate" ], "HP:0012612": [ "abnormal urinary sulfate concentration", "abnormal urinary sulphate concentration" ], "HP:0012613": [ "increase urinary sulfate", "increased urinary sulfate", "increase urinary sulphate", "increased urinary sulphate" ], "HP:0012614": [ "abnormal urine cytology" ], "HP:0012615": [ "cylindruria", "urinary cast", "urinary casts" ], "HP:0012616": [ "leukocyte cylindruria", "white blood cell cast", "white blood cell casts" ], "HP:0012617": [ "erythrocyte cylindruria", "red blood cell cast", "red blood cell casts", "urinary erythrocyte cast" ], "HP:0012618": [ "urachal cyst" ], "HP:0012619": [ "multiple bladder diverticulum", "multiple bladder diverticula", "multiple pouch in bladder wall", "multiple pouches in bladder wall" ], "HP:0012620": [ "cloacal abnormality" ], "HP:0012621": [ "persistent cloaca", "cloacogenic bladder" ], "HP:0012622": [ "chronic kidney disease", "loss of renal function", "progressive renal failure", "progressive renal insufficiency", "renal failure , progressive", "renal insufficiency , progressive" ], "HP:0000106": [ "chronic kidney disease", "loss of renal function", "progressive renal failure", "progressive renal insufficiency", "renal failure , progressive", "renal insufficiency , progressive" ], "HP:0001918": [ "chronic kidney disease", "loss of renal function", "progressive renal failure", "progressive renal insufficiency", "renal failure , progressive", "renal insufficiency , progressive" ], "HP:0008671": [ "chronic kidney disease", "loss of renal function", "progressive renal failure", "progressive renal insufficiency", "renal failure , progressive", "renal insufficiency , progressive" ], "HP:0012623": [ "stage 1 chronic kidney disease" ], "HP:0012624": [ "stage 2 chronic kidney disease" ], "HP:0012625": [ "stage 3 chronic kidney disease" ], "HP:0012626": [ "stage 4 chronic kidney disease" ], "HP:0012627": [ "pseudoexfoliation" ], "HP:0012628": [ "abnormal suspensory ligament of lens morphology", "abnormality of the suspensory ligament of lens", "abnormality of zinn 's membrane", "ciliary zonule abnormality", "zonule of zinn abnormality" ], "HP:0012629": [ "phakodonesis", "phacodonesis", "tremble eye lens", "trembling eye lens" ], "HP:0012630": [ "abnormal trabecular meshwork morphology", "abnormality of the trabecular meshwork" ], "HP:0012631": [ "pigment deposition in the trabecular meshwork" ], "HP:0012632": [ "abnormal intraocular pressure", "abnormal eye pressure" ], "HP:0012633": [ "asymmetry of intraocular pressure" ], "HP:0012634": [ "iris pigment dispersion" ], "HP:0012635": [ "iris hypoperfusion" ], "HP:0012636": [ "retinal vein occlusion" ], "HP:0012637": [ "renal calcium wasting", "kidney ca waste", "kidney ca wasting", "kidney ca2+ waste", "kidney ca2+ wasting", "kidney calcium wasting", "renal ca waste", "renal ca wasting", "renal ca2+ wasting" ], "HP:0012638": [ "abnormal nervous system physiology", "abnormality of nervous system physiology" ], "HP:0012639": [ "abnormal nervous system morphology", "abnormal shape of nervous system", "abnormality of nervous system morphology" ], "HP:0012640": [ "abnormality of intracranial pressure" ], "HP:0012641": [ "decrease intracranial pressure", "decreased intracranial pressure", "intracranial hypotension" ], "HP:0012642": [ "cerebellar agenesis" ], "HP:0012643": [ "foveal hypopigmentation" ], "HP:0012644": [ "increase caudate lactate level", "increased caudate lactate level" ], "HP:0012645": [ "enlarged peripheral nerve", "enlarged peripheral nerves" ], "HP:0012646": [ "retractile testis", "retractile testicle" ], "HP:0012647": [ "abnormal inflammatory response" ], "HP:0012648": [ "decreased inflammatory response" ], "HP:0012649": [ "increased inflammatory response" ], "HP:0012650": [ "obsolete frontoparietal polymicrogyria", "perisylvian polymicrogyria", "frontoparietal polymicrogyria" ], "HP:0012651": [ "abasia" ], "HP:0012652": [ "exercise - induced asthma" ], "HP:0012653": [ "status asthmaticus", "acute severe asthma" ], "HP:0012654": [ "abnormal csf dopamine level" ], "HP:0012655": [ "elevate csf dopamine level", "elevated csf dopamine level" ], "HP:0012656": [ "reduce csf dopamine level", "reduced csf dopamine level" ], "HP:0012657": [ "abnormal brain positron emission tomography", "abnormal brain pet scan" ], "HP:0012658": [ "abnormal brain fdg positron emission tomography", "abnormal brain fdg pet scan" ], "HP:0012659": [ "prefrontal hypometabolism in fdg pet" ], "HP:0012660": [ "thalamic hypometabolism in fdg pet" ], "HP:0012661": [ "hypothalamic hypometabolism in fdg pet" ], "HP:0012662": [ "parietal hypometabolism in fdg pet" ], "HP:0012663": [ "mildly reduce ejection fraction", "mildly reduced ejection fraction" ], "HP:0012664": [ "reduce ejection fraction", "reduced ejection fraction" ], "HP:0012665": [ "moderately reduce ejection fraction", "moderately reduced ejection fraction" ], "HP:0012666": [ "severely reduce ejection fraction", "severely reduced ejection fraction" ], "HP:0012667": [ "regional leave ventricular wall motion abnormality", "regional left ventricular wall motion abnormality" ], "HP:0012668": [ "vasovagal syncope", "neurocardiogenic syncope", "reflex syncope", "situational syncope" ], "HP:0012669": [ "carotid sinus syncope" ], "HP:0012670": [ "orthostatic syncope" ], "HP:0012671": [ "abulia", "aboulia" ], "HP:0012672": [ "akinetic mutism" ], "HP:0012673": [ "aplasia of the upper vagina", "absent upper vagina" ], "HP:0012674": [ "aplasia of the low vagina", "aplasia of the lower vagina", "absent low vagina", "absent lower vagina", "agenesis of the low vagina", "agenesis of the lower vagina" ], "HP:0012675": [ "iron accumulation in brain", "brain iron deposition" ], "HP:0012676": [ "copper accumulation in brain", "brain copper accumulation" ], "HP:0012677": [ "iron accumulation in globus pallidus" ], "HP:0012678": [ "iron accumulation in substantia nigra" ], "HP:0012679": [ "widen interpedicular distance", "widened interpedicular distance" ], "HP:0012680": [ "abnormality of the pineal gland" ], "HP:0012681": [ "abnormal pineal morphology", "abnormality of pineal morphology" ], "HP:0012682": [ "pineal gland calcification" ], "HP:0012683": [ "pineal cyst" ], "HP:0012684": [ "abnormal pineal volume" ], "HP:0012685": [ "decreased pineal volume" ], "HP:0012686": [ "increase pineal volume", "increased pineal volume" ], "HP:0012687": [ "agenesis of pineal gland" ], "HP:0012688": [ "abnormality of pineal physiology" ], "HP:0012689": [ "abnormal pineal melatonin secretion" ], "HP:0012690": [ "t2 hypointense thalamus" ], "HP:0012691": [ "focal t2 hypointense thalamic lesion" ], "HP:0012692": [ "focal t2 hyperintense thalamic lesion" ], "HP:0012693": [ "abnormal thalamic size" ], "HP:0012694": [ "enlarged thalamic volume" ], "HP:0012695": [ "decreased thalamic volume" ], "HP:0012696": [ "abnormal thalamic mri signal intensity" ], "HP:0012697": [ "small basal ganglion", "small basal ganglia" ], "HP:0012698": [ "cerebellar gliosis" ], "HP:0012699": [ "anomaly of low limb diaphysis", "anomaly of lower limb diaphyses", "anomaly of shaft of long bone of low limb", "anomaly of shaft of long bone of lower limb" ], "HP:0012700": [ "abnormal large intestine physiology" ], "HP:0012701": [ "bowel urgency", "faecal urgency", "fecal urgency" ], "HP:0012702": [ "tenesmus" ], "HP:0012703": [ "abnormal subarachnoid space morphology", "abnormality of the subarachnoid space" ], "HP:0012704": [ "widen subarachnoid space", "widened subarachnoid space", "enlarge subarachnoid space", "enlarged subarachnoid space", "widened subarachnoid spaces" ], "HP:0012705": [ "abnormal metabolic brain imaging by mr", "abnormal metabolic brain imaging by mrs" ], "HP:0012706": [ "elevate brain choline level by mr", "elevated brain choline level by mrs" ], "HP:0012707": [ "elevate brain lactate level by mr", "elevated brain lactate level by mrs" ], "HP:0012708": [ "reduce brain n - acetyl aspartate level by mr", "reduced brain n - acetyl aspartate level by mrs", "reduce brain n - acetyl aspartate level by magnetic resonance spectroscopy", "reduced brain n - acetyl aspartate level by magnetic resonance spectroscopy" ], "HP:0012709": [ "abnormal brain choline / creatine ratio by mr", "abnormal brain choline / creatine ratio by mrs" ], "HP:0012710": [ "ingrown nail" ], "HP:0012711": [ "delay ossification of vertebral epiphysis", "delayed ossification of vertebral epiphysis", "delay maturation of the end part of the vertebral bone", "delayed maturation of the end part of the vertebral bone" ], "HP:0012712": [ "mild hearing impairment" ], "HP:0012713": [ "moderate hearing impairment" ], "HP:0012714": [ "severe hearing impairment", "severe deafness", "severe hearing loss" ], "HP:0012715": [ "profound hear impairment", "profound hearing impairment" ], "HP:0012716": [ "moderate conductive hearing impairment", "conductive hearing loss , moderate" ], "HP:0012717": [ "severe conductive hearing impairment", "conductive hearing loss , severe" ], "HP:0012718": [ "morphological abnormality of the gastrointestinal tract", "abnormal shape of the digestive system", "morphological abnormality of the gi tract", "morphological anomaly of the digestive system" ], "HP:0012719": [ "functional abnormality of the gastrointestinal tract", "functional abnormality of the gi tract", "gi dysfunction" ], "HP:0012720": [ "neoplasm of the nose", "nasal neoplasm", "nasal tumor", "nasal tumour", "neoplasia of the nose", "nose cancer", "tumor of the nose", "tumour of the nose", "obsolete neoplasia of the nose" ], "HP:0100637": [ "neoplasm of the nose", "nasal neoplasm", "nasal tumor", "nasal tumour", "neoplasia of the nose", "nose cancer", "tumor of the nose", "tumour of the nose", "obsolete neoplasia of the nose" ], "HP:0012721": [ "venous malformation", "venous malformations" ], "HP:0012722": [ "heart block" ], "HP:0012723": [ "sinoatrial block" ], "HP:0012724": [ "upper eyelid edema", "cellulitis of upper eyelid", "fullness of upper eyelid", "puffiness of upper eyelid", "swell of upper eyelid", "swelling of upper eyelid", "upper eyelid oedema" ], "HP:0012725": [ "cutaneous syndactyly", "cutaneous syndactyly of digit", "cutaneous syndactyly of digits", "syndactyly , cutaneous" ], "HP:0012726": [ "episodic hypokalemia", "recurrent low potassium" ], "HP:0012727": [ "thoracic aortic aneurysm", "dilatation of the thoracic aorta" ], "HP:0012728": [ "fusiform descend thoracic aortic aneurysm", "fusiform descending thoracic aortic aneurysm", "dilatation of the fusiform descend thoracic aorta", "dilatation of the fusiform descending thoracic aorta" ], "HP:0012729": [ "saccular descend thoracic aortic aneurysm", "saccular descending thoracic aortic aneurysm", "dilatation of the saccular descending thoracic aorta" ], "HP:0012730": [ "aglossia", "absence of tongue", "failure of development of tongue", "miss tongue", "missing tongue" ], "HP:0012731": [ "obsolete ectopic anterior pituitary", "ectopic anterior pituitary gland" ], "HP:0012732": [ "anorectal anomaly" ], "HP:0012733": [ "macule", "flat , discolored area of skin", "flat , discoloured area of skin" ], "HP:0012734": [ "ketotic hypoglycemia", "ketotic low blood sugar" ], "HP:0012735": [ "cough", "coughing" ], "HP:0012736": [ "profound global developmental delay", "global developmental delay , profound", "psychomotor retardation , profound" ], "HP:0012737": [ "small intestinal polyp" ], "HP:0012738": [ "agenesis of canine", "absence of canine", "absence of eye tooth", "absent canine", "absent canines", "failure of development of canine", "failure of development of eye tooth", "miss canine", "missing canine", "miss eye tooth", "missing eye tooth" ], "HP:0012739": [ "agenesis of the small intestine", "small bowel agenesis", "undeveloped small intestine" ], "HP:0012740": [ "papilloma" ], "HP:0012741": [ "unilateral cryptorchidism", "cryptorchidism , unilateral" ], "HP:0012742": [ "thin fingernail", "obsolete thin fingernail ( obsolete )" ], "HP:0040037": [ "thin fingernail", "obsolete thin fingernail ( obsolete )" ], "HP:0012743": [ "abdominal obesity", "central obesity" ], "HP:0012744": [ "femoral aplasia", "absent femur", "absent thighbone", "aplasia of the femur" ], "HP:0012745": [ "short palpebral fissure", "decreased height of palpebral fissure", "short opening between the eyelid", "short opening between the eyelids", "short palpebral fissures" ], "HP:0012746": [ "thin toenail", "thin toenails", "obsolete thin toenail" ], "HP:0040038": [ "thin toenail", "thin toenails", "obsolete thin toenail" ], "HP:0012747": [ "abnormal brainstem mri signal intensity" ], "HP:0012748": [ "focal t2 hyperintense brainstem lesion" ], "HP:0012749": [ "focal t2 hypointense brainstem lesion" ], "HP:0012750": [ "t2 hypointense brainstem" ], "HP:0012751": [ "abnormal basal ganglion mri signal intensity", "abnormal basal ganglia mri signal intensity" ], "HP:0012752": [ "focal t2 hypointense basal ganglion lesion", "focal t2 hypointense basal ganglia lesion" ], "HP:0012753": [ "t2 hypointense basal ganglion", "t2 hypointense basal ganglia" ], "HP:0012754": [ "cns hypermyelination" ], "HP:0012755": [ "enlarge brainstem", "enlarged brainstem" ], "HP:0012756": [ "csf polymorphonuclear pleocytosis" ], "HP:0012757": [ "abnormal neuron morphology", "abnormal neuron shape", "abnormal neuronal morphology" ], "HP:0012758": [ "neurodevelopmental delay" ], "HP:0012759": [ "neurodevelopmental abnormality" ], "HP:0012760": [ "impaired social reciprocity" ], "HP:0012761": [ "absent mastoid", "absent mastoids", "failure of development of mastoid", "mastoid agenesis" ], "HP:0200110": [ "absent mastoid", "absent mastoids", "failure of development of mastoid", "mastoid agenesis" ], "HP:0012762": [ "cerebral white matter atrophy" ], "HP:0012763": [ "paroxysmal dyspnea", "paroxysmal dyspnoea" ], "HP:0012764": [ "orthopnea" ], "HP:0012765": [ "widen cerebellar subarachnoid space", "widened cerebellar subarachnoid space" ], "HP:0012766": [ "widen cerebral subarachnoid space", "widened cerebral subarachnoid space" ], "HP:0012767": [ "abnormal placental size" ], "HP:0012768": [ "neonatal asphyxia", "asphyxia neonatorum" ], "HP:0012769": [ "abnormal arm span" ], "HP:0012770": [ "reduce arm span", "reduced arm span" ], "HP:0012771": [ "increase arm span", "increased arm span" ], "HP:0012772": [ "abnormal upper to lower segment ratio" ], "HP:0012773": [ "reduce upper to lower segment ratio", "reduced upper to lower segment ratio" ], "HP:0012774": [ "increase upper to lower segment ratio", "increased upper to lower segment ratio" ], "HP:0012775": [ "stellate iris" ], "HP:0012776": [ "abnormal ciliary body morphology", "abnormality of the ciliary body" ], "HP:0012777": [ "retinal neoplasm" ], "HP:0012778": [ "retinal astrocytic hamartoma" ], "HP:0012779": [ "transient hearing impairment" ], "HP:0012780": [ "neoplasm of the ear", "ear tumor", "ear tumour" ], "HP:0012781": [ "mid - frequency hearing loss" ], "HP:0012782": [ "perilobar nephrogenic rest", "perilobar nephrogenic rests" ], "HP:0012783": [ "intralobar nephrogenic rest", "intralobar nephrogenic rests" ], "HP:0012784": [ "perinephritis" ], "HP:0012785": [ "flexion contracture of finger", "flexion deformity of finger" ], "HP:0012786": [ "recurrent cystitis", "recurrent bladder infection", "recurrent bladder infections" ], "HP:0012787": [ "recurrent pyelonephritis" ], "HP:0012788": [ "reticulate pigmentation of oral mucosa", "mottle pigmentation of oral mucosa", "mottled pigmentation of oral mucosa", "reticulate pigmentation of oral mucous membrane" ], "HP:0012789": [ "hypoplasia of the calcaneus", "hypoplastic calcaneus", "small heel bone", "underdeveloped heel bone" ], "HP:0012790": [ "abnormal intramembranous ossification", "abnormal intramembranous bone ossification" ], "HP:0012791": [ "abnormal humeral ossification", "abnormal maturation of long bone in upper arm" ], "HP:0012792": [ "absent ossification of thoracic vertebral body", "absent ossification of thoracic vertebral bodies" ], "HP:0012793": [ "kink brainstem", "kinked brainstem", "kink brain stem", "kinked brain stem" ], "HP:0012794": [ "periventricular white matter hypodensities", "periventricular cerebral white matter hypodensities" ], "HP:0012795": [ "abnormality of the optic disc" ], "HP:0012796": [ "increase cup - to - disc ratio", "increased cup - to - disc ratio", "elevate cup to disc ratio", "elevated cup to disc ratio", "increase cup disc ratio", "increased cup disc ratio" ], "HP:0012797": [ "lymphatic vessel neoplasm", "lymphatic vessel tumor", "lymphatic vessel tumour" ], "HP:0012798": [ "pulmonary lymphangiomyomatosis", "lymphangioleiomyomatosis", "pulmonary myomatosis" ], "HP:0012799": [ "unilateral facial palsy", "facial droop", "paralysis of one side of the face", "unilateral facial muscle paralysis", "unilateral facial muscle weakness", "unilateral facial paralysis", "unilateral facial weakness", "weakness of one side of the face" ], "HP:0012800": [ "accessory cranial suture", "accessory fontanelle", "extra cranial suture", "extra fontanelle", "supernumary cranial suture", "supernumary fontanelle" ], "HP:0012801": [ "narrow jaw", "narrow low face", "narrow lower face", "narrow low jaw", "narrow lower jaw", "narrow mandible", "thin low face", "thin lower face", "thin low jaw", "thin lower jaw" ], "HP:0012802": [ "broad jaw", "broad low face", "broad lower face", "broad mandible", "wide jaw", "wide mandible" ], "HP:0012803": [ "anisometropia" ], "HP:0012804": [ "corneal ulceration", "corneal ulcer", "corneal ulcerations" ], "HP:0012805": [ "iris transillumination defect" ], "HP:0012806": [ "proboscis" ], "HP:0012807": [ "high insertion of columella", "ala low than columella", "ala lower than columella", "columella , high insertion" ], "HP:0012808": [ "abnormal nasal base", "abnormality of base of nose", "anomaly of base of nose", "anomaly of nasal base", "deformity of base of nose", "deformity of nasal base", "malformation of base of nose", "malformation of nasal base" ], "HP:0012809": [ "narrow nasal base", "decrease width of base of nose", "decreased width of base of nose", "decrease width of nasal base", "decreased width of nasal base", "narrow base of nose", "thin base of nose", "thin nasal base" ], "HP:0012810": [ "wide nasal base", "broad base of nose", "broad nasal base", "increase width of base of nose", "increased width of base of nose", "increase width of nasal base", "increased width of nasal base", "wide base of nose" ], "HP:0012811": [ "wide nasal ridge", "broad dorsum of nose", "broad nasal dorsum", "broad nasal ridge", "increase width of dorsum of nose", "increased width of dorsum of nose", "increase width of nasal dorsum", "increased width of nasal dorsum", "increase width of nasal ridge", "increased width of nasal ridge", "nasal ridge , wide", "wide dorsum of nose", "wide nasal dorsum" ], "HP:0012812": [ "fullness of paranasal tissue", "fullness of tissue around the nose", "hyperplasia of paranasal tissue", "hypertrophy of paranasal tissue", "laterally build up nose", "laterally built up nose", "paranasal fullness", "thick paranasal tissue", "thick tissue around the nose" ], "HP:0012813": [ "unilateral breast hypoplasia", "one underdevelop breast", "one underdeveloped breast" ], "HP:0012814": [ "bilateral breast hypoplasia", "two underdeveloped breast", "two underdeveloped breasts" ], "HP:0012815": [ "hypoplastic female external genitalia", "underdeveloped female external genitalia" ], "HP:0012816": [ "right ventricular noncompaction cardiomyopathy" ], "HP:0012817": [ "noncompaction cardiomyopathy", "noncompaction of the ventricular myocardium", "spongiform cardiomyopathy" ], "HP:0012818": [ "biventricular noncompaction cardiomyopathy" ], "HP:0012819": [ "myocarditis", "inflammation of heart muscle" ], "HP:0012820": [ "bilateral vocal cord paralysis" ], "HP:0012821": [ "unilateral vocal cord paresis" ], "HP:0012822": [ "bilateral vocal cord paresis" ], "HP:0012823": [ "clinical modifier", "phenotypic modifier" ], "HP:0000004": [ "clinical modifier", "phenotypic modifier" ], "HP:0012824": [ "severity", "intensity" ], "HP:0012825": [ "mild" ], "HP:0012826": [ "moderate" ], "HP:0012827": [ "borderline" ], "HP:0012828": [ "severe" ], "HP:0012829": [ "profound" ], "HP:0012830": [ "position" ], "HP:0012831": [ "laterality" ], "HP:0012832": [ "bilateral" ], "HP:0012833": [ "unilateral" ], "HP:0012834": [ "right", "right - side", "right - sided" ], "HP:0012835": [ "left", "left - side", "left - sided" ], "HP:0012836": [ "spatial pattern" ], "HP:0012837": [ "generalize", "generalized", "generalise", "generalised" ], "HP:0012838": [ "localize", "localized", "localise", "localised" ], "HP:0012839": [ "distal", "outermost" ], "HP:0012840": [ "proximal" ], "HP:0012841": [ "retinal vascular tortuosity", "tortuous retinal vessel", "tortuous retinal vessels" ], "HP:0012842": [ "skin appendage neoplasm", "skin adnexal neoplasm", "skin adnexal tumor", "skin adnexal tumour" ], "HP:0012843": [ "hair follicle neoplasm" ], "HP:0012844": [ "trichilemmoma", "tricholemmoma" ], "HP:0012845": [ "single trichilemmoma" ], "HP:0012846": [ "multiple trichilemmomata", "multiple trichilemmomas" ], "HP:0012847": [ "epilepsia partialis continuum", "epilepsia partialis continua", "epilepsia partialis continuum of kojevnikov", "epilepsia partialis continua of kojevnikov", "kojevnikov 's epilepsia", "kozhevnikov 's epilepsia" ], "HP:0012848": [ "small intestinal stenosis", "narrowing of small intestine" ], "HP:0012849": [ "small intestinal bleeding", "small intestinal haemorrhage", "small intestinal hemorrhage" ], "HP:0012850": [ "small intestinal dysmotility" ], "HP:0012851": [ "colonic stenosis", "narrowing of the colon", "stenosis of the colon" ], "HP:0012852": [ "hepatic bridging fibrosis" ], "HP:0012853": [ "scrotal hypospadias" ], "HP:0012854": [ "midshaft hypospadias" ], "HP:0012855": [ "scrotal hyperpigmentation", "hyperpigmentation of the scrotum", "hyperpigmented scrotum", "increase pigmentation in scrotum", "increased pigmentation in scrotum" ], "HP:0012856": [ "abnormal scrotal rugation" ], "HP:0012857": [ "increase scrotal rugation", "increased scrotal rugation" ], "HP:0012858": [ "decrease scrotal rugation", "decreased scrotal rugation" ], "HP:0012859": [ "esophageal leukoplakia", "esophageal epidermoid metaplasia" ], "HP:0012860": [ "testicular fibrosis", "fibrotic testis", "fibrotic testes", "fibrotic testicle" ], "HP:0012861": [ "ovotestis" ], "HP:0012862": [ "abnormal germ cell morphology", "abnormal shape of a reproductive cell", "abnormally shaped germ cell", "abnormally shaped reproductive cell" ], "HP:0012863": [ "abnormal male germ cell morphology" ], "HP:0012864": [ "abnormal sperm morphology", "abnormal shape of sperm", "teratospermia", "teratozoospermia" ], "HP:0012865": [ "abnormal sperm head morphology", "sperm head anomaly" ], "HP:0012866": [ "abnormal sperm neck morphology", "sperm neck anomaly" ], "HP:0012867": [ "abnormal sperm mid - piece morphology", "sperm mid - piece anomaly" ], "HP:0012868": [ "abnormal sperm tail morphology", "sperm tail anomaly" ], "HP:0012869": [ "acephalic spermatozoon", "acephalic spermatozoa" ], "HP:0012870": [ "vanish testis", "vanishing testis", "testicular regression syndrome" ], "HP:0012871": [ "varicocele", "vaginal varicocele" ], "HP:0012872": [ "abnormal va deferens morphology", "abnormal vas deferens morphology" ], "HP:0012873": [ "absent va deferens", "absent vas deferens", "absent deferent duct", "absent ductus deferens", "congenital absence of the va deferens", "congenital absence of the vas deferens" ], "HP:0012874": [ "abnormal male reproductive system physiology", "abnormal male genital system physiology" ], "HP:0012875": [ "abnormal ejaculation" ], "HP:0012876": [ "premature ejaculation" ], "HP:0012877": [ "retrograde ejaculation" ], "HP:0012878": [ "retard ejaculation", "retarded ejaculation", "delay ejaculation", "delayed ejaculation" ], "HP:0012879": [ "anejaculation", "ejaculatory incompetence" ], "HP:0012880": [ "abnormal labium minora morphology", "abnormal labia minora morphology", "abnormality of the inner vaginal lip", "abnormality of the inner vaginal lips", "abnormality of the labium minora", "abnormality of the labia minora" ], "HP:0012881": [ "abnormal labium majora morphology", "abnormal labia majora morphology", "abnormality of the labium majora", "abnormality of the labia majora", "abnormality of vaginal lip", "abnormality of vaginal lips" ], "HP:0012882": [ "hyperplastic labium majora", "hyperplastic labia majora", "enlarge labium majora", "enlarged labia majora", "hyperplasia of labium majora", "hyperplasia of labia majora" ], "HP:0012883": [ "fallopian tube cyst" ], "HP:0012884": [ "fallopian tube torsion", "twisted fallopian tube" ], "HP:0012885": [ "fallopian tube duplication", "accessory fallopian tube" ], "HP:0012886": [ "hemorrhagic ovarian cyst" ], "HP:0012887": [ "ovarian serous cystadenoma", "serous ovarian cyst" ], "HP:0012888": [ "abnormality of the uterine cervix" ], "HP:0012889": [ "cervical endometriosis" ], "HP:0012890": [ "posteriorly place anus", "posteriorly placed anus" ], "HP:0012891": [ "high posterior hairline", "high hairline at back of head" ], "HP:0012892": [ "facial muscle hypertrophy", "hyperplasia of facial muscle", "hyperplasia of facial muscles", "increase size of facial muscle", "increased size of facial muscles", "large facial muscle", "large facial muscles" ], "HP:0012893": [ "neck muscle hypertrophy", "hyperplasia of neck muscle", "hyperplasia of neck muscles", "hypertrophy of cervical muscle", "hypertrophy of cervical muscles", "increase size of neck muscle", "increased size of neck muscles", "large neck muscle", "large neck muscles", "overgrowth of neck muscle", "overgrowth of neck muscles" ], "HP:0012894": [ "paraspinal muscle hypertrophy" ], "HP:0012895": [ "scapular muscle hypertrophy" ], "HP:0012896": [ "abnormal motor evoke potential", "abnormal motor evoked potentials" ], "HP:0012897": [ "abnormal upper - limb motor evoke potential", "abnormal upper - limb motor evoked potentials", "abnormal motor evoke potential in the upper limb", "abnormal motor evoked potentials in the upper limb" ], "HP:0012898": [ "abnormal low - limb motor evoke potential", "abnormal lower - limb motor evoked potentials", "abnormal motor evoke potential in the low limb", "abnormal motor evoked potentials in the lower limb" ], "HP:0012899": [ "handgrip myotonia", "grip myotonia" ], "HP:0012900": [ "myotonia of the face" ], "HP:0012901": [ "myotonia of the jaw" ], "HP:0012902": [ "myotonia of the low limb", "myotonia of the lower limb" ], "HP:0012903": [ "myotonia of the upper limb" ], "HP:0012904": [ "cold - sensitive myotonia" ], "HP:0012905": [ "euryblepharon", "kabuki syndrome eyelid", "kabuki syndrome eyelids" ], "HP:0020006": [ "ciliary body coloboma" ], "HP:0020034": [ "diffuse" ], "HP:0020035": [ "low limb dysmetria", "lower limb dysmetria" ], "HP:0020036": [ "upper limb dysmetria" ], "HP:0020037": [ "astasia" ], "HP:0020038": [ "vertebrobasilar dolichoectasia" ], "HP:0020041": [ "double elevator palsy" ], "HP:0020042": [ "double depressor palsy" ], "HP:0020043": [ "vertical incomitant strabismus" ], "HP:0020044": [ "horizontal incomitant strabismus" ], "HP:0020045": [ "esodeviation", "convergent strabismus" ], "HP:0020046": [ "accommodative esotropia" ], "HP:0020047": [ "abnormal myeloid cell morphology" ], "HP:0020048": [ "reduce bone - marrow pro - b cell count", "reduced bone - marrow pro - b cell count" ], "HP:0020049": [ "exodeviation", "divergent strabismus" ], "HP:0020050": [ "anti - granulocyte - macrophage colony stimulate factor antibody positivity", "anti - granulocyte - macrophage colony stimulating factor antibody positivity", "anti - gm - csf antibody positivity" ], "HP:0020054": [ "abnormal erythrocyte physiology" ], "HP:0020058": [ "abnormal red blood cell count", "abnormal rbc count" ], "HP:0020059": [ "increase red blood cell count", "increased red blood cell count", "increase rbc count", "increased rbc count" ], "HP:0020060": [ "decrease red blood cell count", "decreased red blood cell count", "decrease rbc count", "decreased rbc count" ], "HP:0020061": [ "abnormal hemoglobin concentration", "abnormal haemoglobin concentration", "abnormal hb concentration" ], "HP:0020062": [ "decrease hemoglobin concentration", "decreased hemoglobin concentration", "decrease haemoglobin concentration", "decreased haemoglobin concentration", "decrease hb concentration", "decreased hb concentration" ], "HP:0020063": [ "increase hemoglobin concentration", "increased hemoglobin concentration", "increase haemoglobin concentration", "increased haemoglobin concentration", "increase hb concentration", "increased hb concentration" ], "HP:0020064": [ "abnormal eosinophil count" ], "HP:0020071": [ "viremia" ], "HP:0020072": [ "persistent ebv viremia" ], "HP:0020073": [ "hypopigmented macule" ], "HP:0020074": [ "crystalluria" ], "HP:0020075": [ "leucine crystalluria" ], "HP:0020076": [ "wrist ganglion", "ganglion cyst of the wrist" ], "HP:0020077": [ "carnitinuria" ], "HP:0020078": [ "alaninuria", "increase urinary alanine", "increased urinary alanine" ], "HP:0020079": [ "beta - alaninuria" ], "HP:0020080": [ "erythrocyte inclusion body", "erythrocyte inclusion bodies" ], "HP:0020081": [ "pappenheimer body", "pappenheimer bodies" ], "HP:0020082": [ "heinz body", "heinz bodies" ], "HP:0020083": [ "furuncle", "boil" ], "HP:0020084": [ "carbuncle" ], "HP:0020085": [ "infection follow live vaccination", "infection following live vaccination" ], "HP:0020086": [ "bcgitis" ], "HP:0020087": [ "bcgosis", "bcgiosis", "disseminate bacillus calmette - guerin infection", "disseminated bacillus calmette - guerin infection", "obsolete disseminate bacillus calmette - guerin infection", "obsolete disseminated bacillus calmette - guerin infection" ], "HP:0031698": [ "bcgosis", "bcgiosis", "disseminate bacillus calmette - guerin infection", "disseminated bacillus calmette - guerin infection", "obsolete disseminate bacillus calmette - guerin infection", "obsolete disseminated bacillus calmette - guerin infection" ], "HP:0020088": [ "post - vaccination measles", "vaccine associate measles", "vaccine associated measles" ], "HP:0020089": [ "post - vaccination rubella" ], "HP:0020090": [ "post - vaccination polio" ], "HP:0020091": [ "post - vaccination rotavirus infection" ], "HP:0020093": [ "recurrent deep organ abscess formation" ], "HP:0020095": [ "prolonged need of intravenous antibiotic therapy" ], "HP:0020096": [ "recurrent streptococcal infection", "recurrent streptococcal infections" ], "HP:0020097": [ "infection due to encapsulated bacteria" ], "HP:0020098": [ "herpes encephalitis" ], "HP:0020099": [ "severe norovirus infection" ], "HP:0020100": [ "unusual fungal infection" ], "HP:0020101": [ "invasive fungal infection" ], "HP:0020102": [ "pneumocystis jirovecii pneumonia" ], "HP:0020103": [ "invasive pulmonary aspergillosis" ], "HP:0020104": [ "unusual protozoan infection" ], "HP:0020105": [ "severe toxoplasmosis" ], "HP:0020106": [ "severe giardiasis" ], "HP:0020107": [ "unusual helminthic infection" ], "HP:0020108": [ "unusual parasitic infection" ], "HP:0020110": [ "bone fracture" ], "HP:0020111": [ "abnormal cd4+cd25+ regulatory t cell proportion", "abnormal cd4+cd25+ treg cell proportion" ], "HP:0020112": [ "increase proportion of cd4+cd25+ regulatory t cell", "increased proportion of cd4+cd25+ regulatory t cells", "elevate proportion of cd4+cd25+ regulatory t cell", "elevated proportion of cd4+cd25+ regulatory t cells", "increase proportion of cd4+cd25+ treg cell", "increased proportion of cd4+cd25+ treg cells" ], "HP:0020113": [ "decreased proportion of cd4+cd25+ regulatory t cell", "decreased proportion of cd4+cd25+ regulatory t cells", "decreased proportion of cd4+cd25+ treg cell", "decreased proportion of cd4+cd25+ treg cells", "reduce proportion of cd4+cd25+ regulatory t cell", "reduced proportion of cd4+cd25+ regulatory t cells" ], "HP:0020114": [ "persistent human papillomavirus infection" ], "HP:0020117": [ "hypoplastic dermoepidermal hemidesmosomes" ], "HP:0020118": [ "radial artery aplasia" ], "HP:0020119": [ "abnormal retinal nerve fiber layer morphology", "abnormal retinal nerve fibre layer morphology" ], "HP:0020120": [ "retinal nerve fiber edema", "retinal nerve fibre oedema" ], "HP:0020121": [ "conception by assisted reproductive technology" ], "HP:0020122": [ "bite cell", "bite cells", "blister cell", "blister cells", "degmacytes" ], "HP:0020123": [ "tympanosclerosis", "tympanic calcification" ], "HP:0020125": [ "spontaneous conjunctival filter bleb", "spontaneous conjunctival filtering bleb", "conjunctival avascular cyst ( filter bleb )", "conjunctival avascular cysts ( filtering blebs )", "spontaneous filter bleb", "spontaneous filtering bleb" ], "HP:0020126": [ "prostate mass" ], "HP:0020127": [ "periarticular soft - tissue mass" ], "HP:0020128": [ "aplasia of the olfactory tract" ], "HP:0020129": [ "abnormal urine protein level" ], "HP:0020130": [ "increase urinary neutrophil gelatinase - associate lipocalin", "increased urinary neutrophil gelatinase - associated lipocalin", "increase urinary ngal", "increased urinary ngal" ], "HP:0020131": [ "abnormal tubular basement membrane morphology" ], "HP:0020132": [ "thickening of the tubular basement membrane" ], "HP:0020133": [ "podocyte hypertrophy", "glomerular visceral epithelial cell hypertrophy", "hypertrophy of visceral epithelial cell", "hypertrophy of visceral epithelial cells" ], "HP:0020134": [ "increase urine neutrophil count", "increased urine neutrophil count" ], "HP:0020135": [ "myofibromatosis" ], "HP:0020136": [ "anticardiolipin igg antibody positivity" ], "HP:0020137": [ "anticardiolipin igm antibody positivity" ], "HP:0020138": [ "history of recent animal bite" ], "HP:0020139": [ "history of recent insect bite" ], "HP:0020140": [ "history of recent tick bite" ], "HP:0020141": [ "blood pressure substantially high in legs than arm", "blood pressure substantially higher in legs than arms", "blood pressure substantially higher in low than upper extremity", "blood pressure substantially higher in lower than upper extremities", "blood pressure substantially low in arm than leg", "blood pressure substantially lower in arms than legs", "blood pressure substantially low in upper than low extremity", "blood pressure substantially lower in upper than lower extremities" ], "HP:0020142": [ "blood pressure substantially high in arm than leg", "blood pressure substantially higher in arms than legs", "blood pressure substantially high in upper than low extremity", "blood pressure substantially higher in upper than lower extremities", "increase arm - leg blood pressure gradient", "increased arm - leg blood pressure gradient" ], "HP:0020143": [ "tracheal duplication cyst" ], "HP:0020144": [ "calcium phosphate crystalluria" ], "HP:0020145": [ "calcium oxalate crystalluria" ], "HP:0020146": [ "calcium carbonate crystalluria" ], "HP:0020147": [ "2 - methylbutyryl glycinuria" ], "HP:0020148": [ "increase circulate mead acid level", "increased circulating mead acid level" ], "HP:0020149": [ "elevate circulate succinate", "elevated circulating succinate" ], "HP:0020150": [ "elevate urinary uromodulin", "elevated urinary uromodulin", "elevate urinary tamm - horsfall protein concentration", "elevated urinary tamm - horsfall protein concentration" ], "HP:0020151": [ "anti - dsdna antibody positivity" ], "HP:0020152": [ "distal joint laxity" ], "HP:0020153": [ "positive blood 1,3 beta glucan test" ], "HP:0020154": [ "nevus comedonicus" ], "HP:0020155": [ "abnormal oocyte morphology" ], "HP:0020156": [ "abnormal zona pellucida morphology" ], "HP:0020157": [ "thin zona pellucida" ], "HP:0020158": [ "increase circulate adrenic acid concentration", "increased circulating adrenic acid concentration", "increase circulate docosatetraenoate level", "increased circulating docosatetraenoate level" ], "HP:0020159": [ "reduce response to gonadotropin - release hormone stimulation test", "reduced response to gonadotropin - releasing hormone stimulation test", "reduce response to gnrh stimulation test" ], "HP:0020160": [ "gm1 - ganglioside accumulation" ], "HP:0020161": [ "branch retinal artery occlusion" ], "HP:0020163": [ "cilioretinal artery occlusion" ], "HP:0020164": [ "ophthalmic artery occlusion" ], "HP:0020165": [ "branch retinal vein occlusion" ], "HP:0020166": [ "central retinal vein occlusion" ], "HP:0020167": [ "hemiretinal vein occlusion" ], "HP:0020169": [ "abnormal drug response" ], "HP:0020170": [ "increase blood drug concentration", "increased blood drug concentration", "elevate blood drug concentration", "elevated blood drug concentration", "elevate plasma drug concentration", "elevated plasma drug concentration", "elevate serum drug concentration", "elevated serum drug concentrations", "increase plasma drug concentration", "increased plasma drug concentration", "increase serum drug concentration", "increased serum drug concentration" ], "HP:0020171": [ "decrease blood drug concentration", "decreased blood drug concentration", "decrease plasma drug concentration", "decreased plasma drug concentration", "decrease serum drug concentration", "decreased serum drug concentration", "reduce blood drug concentration", "reduced blood drug concentration", "reduce plasma drug concentration", "reduced plasma drug concentration", "reduce serum drug concentration", "reduced serum drug concentrations" ], "HP:0020172": [ "adverse drug response", "adverse drug reaction", "drug - induce reaction", "drug - induced reaction", "drug - induce response", "drug - induced response", "toxic drug response" ], "HP:0020173": [ "reduce drug efficacy", "reduced drug efficacy", "decrease drug efficacy", "decreased drug efficacy" ], "HP:0020174": [ "refractory drug response", "drug resistance" ], "HP:0020175": [ "reduced cholinesterase level" ], "HP:0020176": [ "cholesterol crystalluria" ], "HP:0020177": [ "abnormal proportion of cd8 - positive , alpha - beta temra t cell", "abnormal proportion of cd8 - positive , alpha - beta temra t cells", "abnormal proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate", "abnormal proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated" ], "HP:0020178": [ "abnormal dendritic cell count" ], "HP:0020179": [ "abnormal haptoglobin level" ], "HP:0020180": [ "elevate haptoglobin level", "elevated haptoglobin level" ], "HP:0020181": [ "reduce haptoglobin level", "reduced haptoglobin level" ], "HP:0020182": [ "abnormal a - type atrial natriuretic peptide level" ], "HP:0020183": [ "increase circulate a - type natriuretic peptide level", "increased circulating a - type natriuretic peptide level" ], "HP:0020184": [ "decrease circulate a - type natriuretic peptide level", "decreased circulating a - type natriuretic peptide level" ], "HP:0020185": [ "superior cerebellar dysplasia" ], "HP:0020186": [ "multilobulated spleen", "multi - lobulated spleen" ], "HP:0020187": [ "thick pachygyria", "pachygyria with cortical thickness > 10 mm", "pachygyria with cortical thickness above 10 mm" ], "HP:0020188": [ "anterior predominant pachygyria with 5 - 10 mm cortical thickness" ], "HP:0020189": [ "posterior predominant thick cortex pachygyria", "occipital predomimant classic pachygyria", "pachygyria with cortical thickness over 10 mm posterior predominant" ], "HP:0020190": [ "perisylvian predominant thick cortex pachygyria", "pachygyria with cortical thickness > 10 mm perisylvian predominant" ], "HP:0020191": [ "anterior predominant thick cortex pachygyria", "pachygyria with cortical thickness > 10 mm anterior predominant" ], "HP:0020192": [ "pachygyria with 5 - 10 mm cortical thickness" ], "HP:0020193": [ "prolonged reptilase time" ], "HP:0020194": [ "iga heavy chain paraproteinemia", "alpha heavy chain disease" ], "HP:0020195": [ "igg heavy chain paraproteinemia", "gamma heavy - chain disease" ], "HP:0020196": [ "igm heavy chain paraproteinemia" ], "HP:0020197": [ "increase circulate arachidonic acid concentration", "increased circulating arachidonic acid concentration", "increase circulate arachidonate level", "increased circulating arachidonate level", "increase circulate arachidonic acid level", "increased circulating arachidonic acid level" ], "HP:0020198": [ "abnormal circulate 18 - hydroxycorticosterone level", "abnormal circulating 18 - hydroxycorticosterone level" ], "HP:0020199": [ "decrease circulate 18 - hydroxycortisone level", "decreased circulating 18 - hydroxycortisone level" ], "HP:0020200": [ "increase circulate 18 - hydroxycortisone level", "increased circulating 18 - hydroxycortisone level" ], "HP:0020201": [ "abnormal sarcomere morphology" ], "HP:0020202": [ "abnormal z disc morphology" ], "HP:0020203": [ "z - band stream", "z - band streaming" ], "HP:0020204": [ "tubulointerstitial bacterial infiltration", "renal tubulointerstitial bacterial organism", "renal tubulointerstitial bacterial organisms" ], "HP:0020205": [ "tubulointerstitial fungal infiltration", "renal tubulointerstitial fungal organism", "renal tubulointerstitial fungal organisms" ], "HP:0020206": [ "simple ear" ], "HP:0020207": [ "reflex seizure" ], "HP:0020208": [ "eat - induced seizure", "eating - induced seizure" ], "HP:0020209": [ "hot water - induced seizure" ], "HP:0020210": [ "praxis - induced seizure" ], "HP:0020211": [ "proprioceptive - induced seizure" ], "HP:0020212": [ "read - induced seizure", "reading - induced seizure" ], "HP:0020213": [ "somatosensory - induced seizure" ], "HP:0020214": [ "startle - induced seizure" ], "HP:0020215": [ "think - induced seizure", "thinking - induced seizure", "cognition induce seizure", "cognition induced seizure" ], "HP:0020216": [ "visually - induced seizure", "photosensitive seizure" ], "HP:0020217": [ "focal aware motor seizure", "focal motor aware seizure" ], "HP:0020218": [ "focal aware atonic seizure" ], "HP:0020219": [ "motor seizure" ], "HP:0020220": [ "focal atonic seizure", "localise atonic seizure", "localised atonic seizure", "localise hypotonic seizure", "localised hypotonic seizure", "localize atonic seizure", "localized atonic seizure", "localize hypotonic seizure", "localized hypotonic seizure", "partial atonic seizure", "partial hypotonic seizure", "segmental atonic seizure", "segmental hypotonic seizure" ], "HP:0020221": [ "clonic seizure" ], "HP:0025004": [ "hallux rigidus", "arthritis of the big toe" ], "HP:0025005": [ "thickening of glomerular capillary wall" ], "HP:0025006": [ "abnormal glomerular capillary morphology", "abnormality of the glomerular capillary wall", "abnormalities of the glomerular capillary wall" ], "HP:0025007": [ "ectopic fovea", "ectopic macula" ], "HP:0025008": [ "tracheal tug on inspiration" ], "HP:0025009": [ "forward slant upper incisor", "forward slanting upper incisors", "forward direct upper incisor", "forward directed upper incisors", "proclination of the upper incisor", "proclination of the upper incisors", "protrude upper incisor", "protruding upper incisors" ], "HP:0025010": [ "foveal atrophy" ], "HP:0025011": [ "pyriform aperture stenosis" ], "HP:0025012": [ "status cribrosum" ], "HP:0025013": [ "decerebrate rigidity", "decerebrate posturing" ], "HP:0025014": [ "subcutaneous spheroid", "subcutaneous spheroids" ], "HP:0025015": [ "abnormal vascular morphology" ], "HP:0025016": [ "abnormal capillary morphology" ], "HP:0025017": [ "capillary fragility" ], "HP:0025018": [ "abnormal capillary physiology" ], "HP:0025019": [ "arterial rupture" ], "HP:0025020": [ "elevate prostate - specific antigen level", "elevated prostate - specific antigen level" ], "HP:0025021": [ "abnormal erythrocyte sedimentation rate", "abnormal esr", "abnormal westergren sedimentation rate" ], "HP:0025022": [ "decrease erythrocyte sedimentation rate", "decreased erythrocyte sedimentation rate", "decrease esr", "decreased esr", "low esr" ], "HP:0025023": [ "rectal atresia", "atresia of the rectum" ], "HP:0025024": [ "megarectum" ], "HP:0025025": [ "rectovestibular fistula", "vestibular fistula" ], "HP:0025026": [ "h - type rectovestibular fistula" ], "HP:0025027": [ "osteoma cutis", "cutaneous osteosis", "miliary osteoma", "osteomatosis" ], "HP:0025028": [ "abnormality of enteric nervous system morphology" ], "HP:0025029": [ "abnormality of enteric neuron morphology" ], "HP:0025030": [ "enteric neuronal degeneration", "degenerative enteric neuropathy" ], "HP:0025031": [ "abnormality of the digestive system" ], "HP:0025032": [ "abnormality of digestive system physiology" ], "HP:0025033": [ "abnormality of digestive system morphology" ], "HP:0025034": [ "abnormal morphology of erythroid progenitor cell" ], "HP:0025035": [ "abnormal proerythroblast morphology" ], "HP:0025037": [ "hypothalamic gliosis" ], "HP:0025038": [ "intratesticular abscess", "testicular abscess" ], "HP:0025039": [ "basal ganglion edema", "basal ganglia edema", "basal ganglion oedema", "basal ganglia oedema", "edema of the basal ganglion", "edema of the basal ganglia", "oedema of the basal ganglion", "oedema of the basal ganglia" ], "HP:0025040": [ "thalamic edema", "edema of the thalamus", "oedema of the thalamus", "thalamic oedema" ], "HP:0025041": [ "thalamic calcification" ], "HP:0025042": [ "abnormality of mesenteric lymph node", "abnormality of mesenteric lymph nodes" ], "HP:0025043": [ "enlarge mesenteric lymph node", "enlarged mesenteric lymph node" ], "HP:0025044": [ "lung abscess" ], "HP:0025045": [ "abnormal brain lactate level by mr", "abnormal brain lactate level by mrs", "abnormal lactate level by magnetic resonance spectroscopy" ], "HP:0025046": [ "reduce brain lactate level by mr", "reduced brain lactate level by mrs", "reduce brain lactate level by magnetic resonance spectroscopy", "reduced brain lactate level by magnetic resonance spectroscopy" ], "HP:0025047": [ "abnormal brain choline level by mr", "abnormal brain choline level by mrs", "abnormal brain choline level by magnetic resonance spectroscopy" ], "HP:0025048": [ "reduce brain choline level by mr", "reduced brain choline level by mrs", "reduce brain choline level by magnetic resonance spectroscopy", "reduced brain choline level by magnetic resonance spectroscopy" ], "HP:0025049": [ "abnormal brain creatine level by mr", "abnormal brain creatine level by mrs", "abnormal brain creatine level by magnetic resonance spectroscopy" ], "HP:0025050": [ "elevate brain creatine level by mr", "elevated brain creatine level by mrs", "elevate brain creatine level by magnetic resonance spectroscopy", "elevated brain creatine level by magnetic resonance spectroscopy" ], "HP:0025051": [ "reduce brain creatine level by mr", "reduced brain creatine level by mrs", "low brain creatine phosphate", "reduce brain creatine level by magnetic resonance spectroscopy", "reduced brain creatine level by magnetic resonance spectroscopy" ], "HP:0025052": [ "abnormal brain n - acetyl aspartate level by mr", "abnormal brain n - acetyl aspartate level by mrs", "abnormal brain n - acetyl aspartate level by magnetic resonance spectroscopy" ], "HP:0025053": [ "elevate brain n - acetyl aspartate level by mr", "elevated brain n - acetyl aspartate level by mrs", "elevate brain n - acetyl aspartate level by magnetic resonance spectroscopy", "elevated brain n - acetyl aspartate level by magnetic resonance spectroscopy" ], "HP:0025057": [ "abnormality of olfactory lobe morphology" ], "HP:0025058": [ "hypothalamic atrophy", "atrophy of the hypothalamus" ], "HP:0025059": [ "splenic abscess" ], "HP:0025060": [ "multifocal splenic abscess", "multilocular splenic abscess" ], "HP:0025061": [ "unifocal splenic abscess", "solitary splenic abscess", "unilocular splenic abscess" ], "HP:0025062": [ "geophagia", "geophagy" ], "HP:0025063": [ "scaphoid abdomen" ], "HP:0025064": [ "thalamic hemorrhage", "thalamic haemorrhage" ], "HP:0025065": [ "abnormal mean corpuscular volume", "abnormal erythrocyte volume", "abnormal mcv" ], "HP:0025066": [ "decrease mean corpuscular volume", "decreased mean corpuscular volume", "decrease mcv", "decreased mcv", "microcytosis", "reduce erythrocyte volume", "reduced erythrocyte volume" ], "HP:0025068": [ "incomitant strabismus" ], "HP:0025069": [ "concomitant strabismus", "comitant strabismus" ], "HP:0025070": [ "abnormal u wave" ], "HP:0025071": [ "u wave inversion" ], "HP:0025072": [ "prominent u wave", "increase u wave amplitude", "increased u wave amplitude" ], "HP:0025073": [ "exercise - induced u wave inversion" ], "HP:0025074": [ "abnormal qrs complex" ], "HP:0025075": [ "increase qrs voltage", "increased qrs voltage" ], "HP:0025076": [ "abnormal qrs voltage" ], "HP:0025077": [ "decrease qrs voltage", "decreased qrs voltage" ], "HP:0025078": [ "electrical alternans" ], "HP:0025079": [ "pancreatic abscess", "pancreas abscess" ], "HP:0025080": [ "orthokeratotic hyperkeratosis" ], "HP:0025081": [ "darier 's sign" ], "HP:0025082": [ "abnormal cutaneous elastic fiber morphology", "abnormal cutaneous elastic fibre morphology" ], "HP:0025083": [ "elevate dermal desmosine content", "elevated dermal desmosine content" ], "HP:0025084": [ "folliculitis", "follicular pustule" ], "HP:0025085": [ "bloody diarrhea", "blood in stool", "bloody bowel movement", "bloody diarrhoea", "bloody stool" ], "HP:0025086": [ "bloody mucoid diarrhea", "bloody mucoid diarrhoea" ], "HP:0025087": [ "delay recoil upon stretch of skin", "delayed recoil upon stretching of skin" ], "HP:0025088": [ "onychomadesis" ], "HP:0025089": [ "feculent vomit", "feculent vomiting", "faecal vomiting", "fecal vomiting", "stercoraceous vomit", "stercoraceous vomiting", "vomit faecal matter", "vomiting faecal matter", "vomit fecal matter", "vomiting fecal matter" ], "HP:0025090": [ "abnormal large intestinal mucosa morphology" ], "HP:0025092": [ "epidermal acanthosis", "acanthosis", "acanthotic epidermis", "thickening of upper layer of skin" ], "HP:0025093": [ "peripapillary exudate", "peripapillary exudation" ], "HP:0025094": [ "disciform macular scar" ], "HP:0025095": [ "sneeze" ], "HP:0025096": [ "paroxysmal sneezing" ], "HP:0025097": [ "eyelid myoclonus", "blepharoclonus", "eyelid myoclonia" ], "HP:0025098": [ "dysgenesis of the hypothalamus", "hypothalamic dysgenesis" ], "HP:0025099": [ "dysgenesis of the thalamus", "thalamic dysgenesis" ], "HP:0025100": [ "abnormal hippocampus morphology", "abnormal morphology of the hippocampus", "abnormality of hippocampus morphology" ], "HP:0025101": [ "dysgenesis of the hippocampus", "hippocampal dysgenesis" ], "HP:0025102": [ "dysgenesis of the basal ganglion", "dysgenesis of the basal ganglia", "basal ganglion dysgenesis", "basal ganglia dysgenesis" ], "HP:0025103": [ "umbilicated nodule" ], "HP:0025104": [ "capillary malformation" ], "HP:0025105": [ "nevus anemicus", "naevus anaemicus" ], "HP:0025106": [ "nevus roseus" ], "HP:0025107": [ "cutis marmorata telangiectatica congenita" ], "HP:0025108": [ "angioma serpentinum" ], "HP:0025109": [ "reduce red cell pyruvate kinase level", "reduced red cell pyruvate kinase level", "reduce erythrocyte pyruvate kinase activity", "reduced erythrocyte pyruvate kinase activity" ], "HP:0025110": [ "placoid macular lesion" ], "HP:0025112": [ "sound sensitivity", "noise sensitivity" ], "HP:0025113": [ "misophonia" ], "HP:0025114": [ "hypergranulosis" ], "HP:0025115": [ "civatte body", "civatte bodies", "colloid body", "colloid bodies", "colloid body of civatte", "colloid bodies of civatte", "cytoid body", "cytoid bodies", "hyaline body", "hyaline bodies" ], "HP:0025116": [ "fetal distress", "foetal distress" ], "HP:0025117": [ "rete ridge flattening", "flatten rete peg", "flattened rete pegs", "flatten rete ridge", "flattened rete ridges" ], "HP:0025118": [ "lip discoloration" ], "HP:0025119": [ "violet lip discoloration" ], "HP:0025122": [ "sawtooth acanthosis", "sawtoothed acanthosis" ], "HP:0025123": [ "white streak / speck on enamel .", "white streaks / specks on enamel ." ], "HP:0025124": [ "fragile teeth", "enamel with tendency to chip", "spontaneous tooth fracture" ], "HP:0025125": [ "white lesion of the oral mucosa" ], "HP:0025126": [ "oral hairy leukoplakia" ], "HP:0025127": [ "actinic keratosis", "solar keratosis" ], "HP:0025128": [ "reduce intraabdominal adipose tissue", "reduced intraabdominal adipose tissue" ], "HP:0025129": [ "abnormal small intestinal mucosa morphology" ], "HP:0025130": [ "decrease small intestinal mucosa lactase level", "decreased small intestinal mucosa lactase level", "lactase deficiency" ], "HP:0025131": [ "finger swell", "finger swelling", "swell of finger", "swelling of fingers", "swell finger", "swollen finger", "swollen fingers" ], "HP:0025132": [ "abnormal circulate estrogen level", "abnormal circulating estrogen level", "abnormal circulate oestrogen level", "abnormal circulating oestrogen level", "abnormal estrogen level", "abnormal oestrogen level" ], "HP:0025133": [ "abnormal serum estradiol" ], "HP:0025134": [ "increase serum estradiol", "increased serum estradiol", "increase estradiol level", "increased estradiol level", "increase serum oestradiol", "increased serum oestradiol" ], "HP:0025135": [ "abnormal serum estriol" ], "HP:0025136": [ "increase serum estriol", "increased serum estriol" ], "HP:0025137": [ "decrease serum estriol", "decreased serum estriol" ], "HP:0025138": [ "abnormal serum estrone" ], "HP:0025139": [ "increase serum estrone", "increased serum estrone" ], "HP:0025140": [ "decrease serum estrone", "decreased serum estrone" ], "HP:0025141": [ "gingival calcification", "gingival calcifications" ], "HP:0025142": [ "constitutional symptom" ], "HP:0025143": [ "chill", "chills" ], "HP:0025144": [ "shiver", "shivering", "shudder", "shuddering" ], "HP:0025145": [ "rigor", "rigors", "rigour", "rigours" ], "HP:0025146": [ "foveal degeneration" ], "HP:0025147": [ "beat bronze macular sheen", "beaten bronze macular sheen", "beat metal macular appearance", "beaten metal macular appearance", "beaten - bronze macular appearance", "beaten - bronze macular sheen" ], "HP:0025148": [ "dark choroid" ], "HP:0025149": [ "atrophic muscularis propria", "autonomic visceral myopathy", "degenerative enteric myopathy" ], "HP:0025150": [ "hypoganglionosis" ], "HP:0025151": [ "ganglioneuromatosis" ], "HP:0025152": [ "poor visual behavior for age", "abnormal visual behavior for age", "abnormal visual behaviour for age", "poor visual behaviour for age" ], "HP:0025153": [ "transient" ], "HP:0025154": [ "portosystemic collateral vein", "portosystemic collateral veins", "collateral biliary circulation", "collateral biliary vein", "collateral biliary veins" ], "HP:0025155": [ "abnormality of hepatobiliary system physiology" ], "HP:0025156": [ "dependency on intravenous nutrition", "dependency on iv nutrition" ], "HP:0025157": [ "increase urinary sedoheptulose", "increased urinary sedoheptulose" ], "HP:0025158": [ "hyperautofluorescent retinal lesion" ], "HP:0025159": [ "hypoautofluorescent retinal lesion", "hypo - autofluorescent retinal lesion" ], "HP:0025160": [ "abnormal temper tantrum", "abnormal temper tantrums" ], "HP:0025161": [ "frequent temper tantrum", "frequent temper tantrums" ], "HP:0025162": [ "severe temper tantrum", "severe temper tantrums" ], "HP:0025163": [ "abnormality of optic chiasm morphology" ], "HP:0025164": [ "increased number of elastic fiber in the dermis", "increased number of elastic fibers in the dermis", "increased number of elastic fibre in the dermis", "increased number of elastic fibres in the dermis" ], "HP:0025165": [ "clumping of elastic fiber in the dermis", "clumping of elastic fibers in the dermis", "clumping of elastic fibre in the dermis", "clumping of elastic fibres in the dermis" ], "HP:0025166": [ "thicken elastic fiber in the dermis", "thickened elastic fibers in the dermis", "thicken elastic fibre in the dermis", "thickened elastic fibres in the dermis" ], "HP:0025167": [ "fragment elastic fiber in the dermis", "fragmented elastic fibers in the dermis", "fragment elastic fibre in the dermis", "fragmented elastic fibres in the dermis" ], "HP:0025168": [ "leave ventricular diastolic dysfunction", "left ventricular diastolic dysfunction" ], "HP:0025169": [ "leave ventricular systolic dysfunction", "left ventricular systolic dysfunction" ], "HP:0025170": [ "neuronal / glioneuronal neoplasm of the central nervous system", "glioneuronal tumor", "glioneuronal tumour", "neuronal and mixed neuronal - glial tumor", "neuronal and mixed neuronal - glial tumour", "neuronal / glioneuronal neoplasm of the cns" ], "HP:0025171": [ "rosette - form glioneuronal tumor", "rosette - forming glioneuronal tumor", "rosette - form glioneuronal neoplasm", "rosette - forming glioneuronal neoplasm", "rosette - form glioneuronal tumor of the fourth ventricle", "rosette - forming glioneuronal tumor of the fourth ventricle", "rosette - form glioneuronal tumour", "rosette - forming glioneuronal tumour", "rosette - form glioneuronal tumour of the fourth ventricle", "rosette - forming glioneuronal tumour of the fourth ventricle" ], "HP:0025172": [ "smooth septal thicken on pulmonary hrct", "smooth septal thickening on pulmonary hrct" ], "HP:0025173": [ "nodular septal thicken on pulmonary hrct", "nodular septal thickening on pulmonary hrct" ], "HP:0025174": [ "irregular septal thicken on pulmonary hrct", "irregular septal thickening on pulmonary hrct" ], "HP:0025175": [ "honeycomb lung", "honeycomb cyst", "honeycomb cysts", "honeycomb", "honeycombing" ], "HP:0025176": [ "intralobular interstitial thickening" ], "HP:0025177": [ "peribronchovascular interstitial thickening" ], "HP:0025178": [ "subpleural interstitial thickening", "subpleural scarring" ], "HP:0025179": [ "ground - glass opacification", "ground glass opacity", "ground glass opacities", "ground - glass opacification on pulmonary hrct" ], "HP:0025180": [ "centrilobular ground - glass opacification on pulmonary hrct", "centrilobular groundglass opacification", "centrilobular groundglass opacity" ], "HP:0025181": [ "abdominal aseptic abscess" ], "HP:0025182": [ "localized area of pendulous skin", "localised area of pendulous skin" ], "HP:0025186": [ "marcus gunn jaw wink synkinesis", "marcus gunn jaw winking synkinesis", "marcus gunn jaw - winking syndrome", "pterygoid - levator synkinesis", "trigemino - oculomotor synkinesis" ], "HP:0025188": [ "retinal vasculitis" ], "HP:0025190": [ "bilateral tonic - clonic seizure with generalized onset", "bilateral tonic - clonic seizure with generalised onset", "generalise tonic - clonic seizure without focal onset", "generalised tonic - clonic seizure without focal onset", "generalise tonic - clonic seizure without partial onset", "generalised tonic - clonic seizure without partial onset", "generalised tonic - clonic seizures without focal onset", "generalise - onset tonic - clonic seizure", "generalised - onset tonic - clonic seizure", "generalize tonic - clonic seizure without focal onset", "generalized tonic - clonic seizure without focal onset", "generalize tonic - clonic seizure without partial onset", "generalized tonic - clonic seizure without partial onset", "generalized tonic - clonic seizures without focal onset", "generalize - onset tonic - clonic seizure", "generalized - onset tonic - clonic seizure", "primarily generalise tonic - clonic seizure", "primarily generalised tonic - clonic seizures", "primarily generalize tonic - clonic seizure", "primarily generalized tonic - clonic seizures", "primary generalise tonic - clonic seizure", "primary generalised tonic - clonic seizure", "primary generalised tonic - clonic seizures", "primary generalize tonic - clonic seizure", "primary generalized tonic - clonic seizure", "primary generalized tonic - clonic seizures" ], "HP:0025192": [ "subtentorial periventricular white matter hyperdensity" ], "HP:0025193": [ "posterolateral diaphragmatic hernia", "bochdalek hernia" ], "HP:0025194": [ "morgagni diaphragmatic hernia", "morgagni hernia" ], "HP:0025195": [ "central diaphragmatic hernia", "central hernia" ], "HP:0025196": [ "increase total iron binding capacity", "increased total iron binding capacity" ], "HP:0025197": [ "inclusion body fibromatosis", "digital fibrous tumor of reye", "digital fibrous tumour of reye", "infantile digital fibroma", "infantile digital fibromatosis" ], "HP:0025198": [ "inflammatory cap polyp" ], "HP:0025200": [ "muscle fiber actin filament accumulation", "muscle fibre actin filament accumulation" ], "HP:0025201": [ "abnormal circulate apolipoprotein concentration", "abnormal circulating apolipoprotein concentration", "abnormal apolipoprotein level" ], "HP:0025202": [ "elevate circulate apolipoprotein a - iv concentration", "elevated circulating apolipoprotein a - iv concentration", "elevate apolipoprotein a - iv level", "elevated apolipoprotein a - iv level" ], "HP:0025203": [ "caput medusa", "caput medusae", "palm tree sign" ], "HP:0025204": [ "trigger by", "triggered by" ], "HP:0025205": [ "trigger by breast feeding", "triggered by breast feeding", "breastfeeding trigger symptom", "breastfeeding triggered symptoms", "trigger by breastfeed", "triggered by breastfeeding" ], "HP:0025206": [ "trigger by cold", "triggered by cold", "cold trigger symptom", "cold triggered symptoms", "trigger by cold temperature", "triggered by cold temperature" ], "HP:0025207": [ "trigger by dehydration", "triggered by dehydration", "dehydration trigger symptom", "dehydration triggered symptoms" ], "HP:0025208": [ "trigger by carbohydrate ingestion", "triggered by carbohydrate ingestion", "carbohydrate ingestion trigger symptom", "carbohydrate ingestion triggered symptoms" ], "HP:0025209": [ "trigger by fructose ingestion", "triggered by fructose ingestion", "trigged by fruit sugar" ], "HP:0025210": [ "trigger by glucose ingestion", "triggered by glucose ingestion" ], "HP:0025211": [ "trigger by ethanol ingestion", "triggered by ethanol ingestion", "ethanol ingestion trigger symptom", "ethanol ingestion triggered symptoms", "trigger by alcohol ingestion", "triggered by alcohol ingestion" ], "HP:0025212": [ "trigger by fast", "triggered by fasting", "fasting trigger attack", "fasting triggered attacks", "fast trigger symptom", "fasting triggered symptoms" ], "HP:0025213": [ "trigger by galactose ingestion", "triggered by galactose ingestion", "trigger by ingestion of lactose - contain milk", "triggered by ingestion of lactose - containing milk" ], "HP:0025214": [ "trigger by heat", "triggered by heat", "heat trigger symptom", "heat triggered symptoms" ], "HP:0025215": [ "trigger by febrile illness", "triggered by febrile illness", "febrile illness trigger symptom", "febrile illness triggered symptoms", "trigger by fever", "triggered by fever" ], "HP:0025216": [ "trigger by heavy meal", "triggered by heavy meal", "heavy meal trigger symptom", "heavy meal triggered symptoms", "trigger by overeat", "triggered by overeating" ], "HP:0025217": [ "trigger by high - fat diet", "triggered by high - fat diet", "high - fat diet trigger symptom", "high - fat diet triggered symptoms" ], "HP:0025218": [ "trigger by hyperventilation", "triggered by hyperventilation", "hyperventilation trigger symptom", "hyperventilation triggered symptoms" ], "HP:0025219": [ "trigger by vaccination", "triggered by vaccination", "trigger by immunisation", "triggered by immunisation", "trigger by immunization", "triggered by immunization", "vaccination trigger symptom", "vaccination triggered symptoms" ], "HP:0025220": [ "trigger by menstruation", "triggered by menstruation", "menstruation trigger symptom", "menstruation triggered symptoms", "trigger by monthly period", "triggered by monthly period", "trigger by period", "triggered by period" ], "HP:0025221": [ "trigger by pregnancy", "triggered by pregnancy", "pregnancy trigger symptom", "pregnancy triggered symptoms" ], "HP:0025222": [ "trigger by sleep deprivation", "triggered by sleep deprivation", "sleep deprivation trigger symptom", "sleep deprivation triggered symptoms" ], "HP:0025223": [ "trigger by smoke", "triggered by smoking", "smoking trigger symptom", "smoking triggered symptoms", "trigger by cigarette consumption", "triggered by cigarette consumption", "trigger by tobacco use", "triggered by tobacco use" ], "HP:0025224": [ "trigger by sodium ingestion", "triggered by sodium ingestion", "sodium ingestion trigger symptom", "sodium ingestion triggered symptoms", "sodium intake trigger attack", "sodium intake triggered attacks", "trigger by na ingestion", "triggered by na ingestion", "trigger by na+ ingestion", "triggered by na+ ingestion", "trigger by salt ingestion", "triggered by salt ingestion", "trigger by sodium intake", "triggered by sodium intake" ], "HP:0025225": [ "trigger by sound", "triggered by sound", "sound trigger symptom", "sound triggered symptoms" ], "HP:0025226": [ "trigger by stress", "triggered by stress", "stress trigger symptom", "stress triggered symptoms" ], "HP:0025227": [ "trigger by excitement", "triggered by excitement", "excitement trigger symptom", "excitement triggered symptoms", "trigger by startle", "triggered by startle" ], "HP:0025228": [ "trigger by sudden movement", "triggered by sudden movement", "kinesigenic", "sudden movement trigger symptom", "sudden movement triggered symptoms" ], "HP:0025229": [ "trigger by vestibular stimulation", "triggered by vestibular stimulation", "vestibular stimulation trigger attack", "vestibular stimulation triggered attacks", "vestibular stimulation trigger symptom", "vestibular stimulation triggered symptoms" ], "HP:0025230": [ "tendonitis", "teninitis" ], "HP:0025231": [ "abnormality of synovial bursa morphology" ], "HP:0025232": [ "bursitis" ], "HP:0025233": [ "sleep paralysis" ], "HP:0025234": [ "parasomnia" ], "HP:0025235": [ "non - rapid eye movement parasomnia", "nrem parasomnia" ], "HP:0025236": [ "somnambulism", "sleep walking" ], "HP:0025237": [ "confusional arousal" ], "HP:0025238": [ "foot pain" ], "HP:0025239": [ "subhyaloid hemorrhage", "subhyaloid haemorrhage", "subhyaloid heme" ], "HP:0025240": [ "preretinal hemorrhage", "preretinal haemorrhage", "preretinal heme" ], "HP:0025241": [ "flame - shape retinal hemorrhage", "flame - shaped retinal hemorrhage", "feather retinal heme", "feathered retinal heme", "flame - shape retinal haemorrhage", "flame - shaped retinal haemorrhage", "linear retina heme" ], "HP:0025242": [ "dot - and - blot retinal hemorrhage", "dot - and - blot retinal haemorrhage", "round retinal heme" ], "HP:0025243": [ "subretinal hemorrhage", "subretinal haemorrhage", "subretinal heme" ], "HP:0025244": [ "subretinal pigment epithelium hemorrhage", "subretinal pigment epithelium haemorrhage" ], "HP:0025245": [ "cutaneous cyst" ], "HP:0025246": [ "trichilemmal cyst", "pilar cyst" ], "HP:0025247": [ "dermoid cyst" ], "HP:0025248": [ "eruptive vellus hair cyst" ], "HP:0025249": [ "comedo" ], "HP:0025250": [ "close comedo", "closed comedo", "whitehead" ], "HP:0025251": [ "open comedo", "blackhead" ], "HP:0025252": [ "geographic tongue", "annulus migrans", "benign migratory glossitis", "glossitis areata exfoliativa", "lingual erythema migrans", "wander rash of the tongue", "wandering rash of the tongue" ], "HP:0025253": [ "claustrophobia" ], "HP:0025254": [ "ameliorate by", "ameliorated by", "improve by", "improved by" ], "HP:0025255": [ "ameliorate by pregnancy", "ameliorated by pregnancy", "pregnancy relief symptom", "pregnancy relieves symptoms" ], "HP:0025256": [ "ameliorate by heat", "ameliorated by heat", "fever improve condition", "fever improves condition", "heat improve condition", "heat improves condition", "heat improve symptom", "heat improves symptom" ], "HP:0025257": [ "ameliorate by carbohydrate ingestion", "ameliorated by carbohydrate ingestion" ], "HP:0025258": [ "stiff neck", "neck stiffness" ], "HP:0025259": [ "stiff elbow", "elbow stiffness" ], "HP:0025260": [ "stiff wrist", "wrist stiffness" ], "HP:0025261": [ "stiff finger", "finger stiffness" ], "HP:0025262": [ "stiff hip", "hip stiffness" ], "HP:0025263": [ "stiff knee", "knee stiffness" ], "HP:0025264": [ "stiff ankle", "ankle stiffness" ], "HP:0025265": [ "stiff toe", "toe stiffness" ], "HP:0025266": [ "cervical osteoarthritis" ], "HP:0025267": [ "snore", "snoring", "snores", "snore symptom", "snoring symptoms" ], "HP:0025268": [ "stutter", "stuttering", "stammer", "stammering" ], "HP:0025269": [ "panic attack" ], "HP:0025270": [ "abnormal esophagus physiology", "abnormality of esophagus physiology", "abnormality of oesophagus physiology", "functional abnormality of the esophagus", "functional abnormality of the oesophagus" ], "HP:0025271": [ "esophageal spasm", "esophageal spasms" ], "HP:0025272": [ "melasma", "chloasma", "facial melanosis" ], "HP:0025273": [ "achilles tendonitis" ], "HP:0025274": [ "ovarian dermoid cyst", "mature cystic ovarian teratoma" ], "HP:0025275": [ "lateral" ], "HP:0025276": [ "abnormality of skin adnexa physiology" ], "HP:0025277": [ "gustatory sweating" ], "HP:0025278": [ "cold - induce sweating", "cold - induced sweating" ], "HP:0025279": [ "migratory" ], "HP:0025280": [ "pain characteristic" ], "HP:0025281": [ "sharp" ], "HP:0025282": [ "dull", "dull pain" ], "HP:0025283": [ "tender" ], "HP:0025284": [ "sleep - interrupting" ], "HP:0025285": [ "aggravate by", "aggravated by", "exacerbate by", "exacerbated by" ], "HP:0025286": [ "aggravate by activity", "aggravated by activity", "aggravate by exercise", "aggravated by exercise", "aggravate by exertion", "aggravated by exertion", "bad with activity", "worse with activity", "worsen by activity", "worsened by activity" ], "HP:0025287": [ "axial" ], "HP:0025289": [ "cervical lymphadenopathy", "swollen lymph node in the neck", "swollen lymph nodes in the neck" ], "HP:0025290": [ "upper - body predominance" ], "HP:0025291": [ "low - body predominance", "lower - body predominance" ], "HP:0025292": [ "acral" ], "HP:0025293": [ "distribute along blaschko line", "distributed along blaschko lines" ], "HP:0025294": [ "dermatomal", "radicular" ], "HP:0025295": [ "herpetiform" ], "HP:0025296": [ "morbilliform" ], "HP:0025297": [ "prolong", "prolonged" ], "HP:0025300": [ "malar rash", "butterfly rash", "cheekbone rash" ], "HP:0025301": [ "nocturnal" ], "HP:0025302": [ "diurnal" ], "HP:0025303": [ "episodic", "now and then" ], "HP:0025304": [ "periodic", "cyclic", "cyclical" ], "HP:0025305": [ "quotidian" ], "HP:0025306": [ "acute emergence over minute", "acute emergence over minutes" ], "HP:0025307": [ "acute emergence over hour", "acute emergence over hours" ], "HP:0025308": [ "acute emergence over day", "acute emergence over days" ], "HP:0025309": [ "abnormal pupil shape", "irregular pupil" ], "HP:0025310": [ "oval pupil" ], "HP:0025311": [ "anterior chamber cyst" ], "HP:0025312": [ "esophoria" ], "HP:0025313": [ "exophoria" ], "HP:0025314": [ "choroidal nevus" ], "HP:0025315": [ "exacerbate by head trauma", "exacerbated by head trauma" ], "HP:0025317": [ "cubitus varus" ], "HP:0025318": [ "ovarian carcinoma", "ovarian epithelial cancer" ], "HP:0025319": [ "rubeosis iridis" ], "HP:0025320": [ "leakage of dye on fundus fluorescein angiography", "fluorescein leakage" ], "HP:0025321": [ "copper accumulation in liver", "liver copper accumulation" ], "HP:0025322": [ "venous occlusion" ], "HP:0025323": [ "abnormal arterial physiology" ], "HP:0025324": [ "arterial occlusion" ], "HP:0025325": [ "sparse medial eyebrow", "medial thinning of eyebrow" ], "HP:0025326": [ "retinal arterial occlusion", "retinal artery occlusion" ], "HP:0025327": [ "decrease renal parenchymal thickness", "decreased renal parenchymal thickness" ], "HP:0025328": [ "antepartum hemorrhage", "antepartum haemorrhage", "prepartum haemorrhage", "prepartum hemorrhage" ], "HP:0025329": [ "anti - glutamic acid decarboxylase antibody positivity", "anti - gad antibody positivity" ], "HP:0025330": [ "downgaze palsy", "downgaze paresis", "supranuclear downgaze palsy" ], "HP:0025331": [ "upgaze palsy", "supranuclear upgaze palsy", "upgaze paresis" ], "HP:0025332": [ "abnormality of foot cortical bone", "abnormality of the cortex of foot bone", "abnormality of the cortex of foot bones" ], "HP:0025333": [ "cortical thinning of foot bone", "cortical thinning of foot bones" ], "HP:0025334": [ "trigger by emotion", "triggered by emotion", "emotion trigger symptom", "emotion triggered symptoms" ], "HP:0025335": [ "delay ability to stand", "delayed ability to stand" ], "HP:0025336": [ "delay ability to sit", "delayed ability to sit" ], "HP:0025337": [ "red eye", "red eyes" ], "HP:0025338": [ "circumlimbal hyperemia", "ciliary limbus", "circumlimbal hyperaemia" ], "HP:0025339": [ "superficial episcleral hyperemia", "superficial episcleral hypaeremia" ], "HP:0025340": [ "deep episcleral hyperemia", "deep episcleral hyperaemia" ], "HP:0025341": [ "corneal keratic precipitate", "corneal keratic precipitates" ], "HP:0025342": [ "central retinal artery occlusion" ], "HP:0025343": [ "lupus anticoagulant" ], "HP:0025344": [ "interlobular bile duct destruction" ], "HP:0025345": [ "abnormality of circulate beta - 2 - microglobulin level", "abnormality of circulating beta - 2 - microglobulin level", "abnormality of circulate b2m level", "abnormality of circulating b2m level", "abnormality of circulate beta2 microglobulin level", "abnormality of circulating beta2 microglobulin level", "abnormality of circulate beta2 - m level", "abnormality of circulating beta2 - m level", "abnormality of circulate beta2m level", "abnormality of circulating beta2m level" ], "HP:0025346": [ "increase circulate beta - 2 - microglobulin level", "increased circulating beta - 2 - microglobulin level", "elevate circulate beta - 2 - microglobulin level", "elevated circulating beta - 2 - microglobulin level" ], "HP:0025347": [ "decrease circulate beta - 2 - microglobulin level", "decreased circulating beta - 2 - microglobulin level", "reduce circulate beta - 2 - microglobulin level", "reduced circulating beta - 2 - microglobulin level" ], "HP:0025348": [ "abnormality of the corneal limbus" ], "HP:0025349": [ "limbal edema", "limbal oedema" ], "HP:0025350": [ "giant conjunctival papilla", "giant conjunctival papillae" ], "HP:0025351": [ "recurrent interdigital mycosis", "recurrent interdigital tinea" ], "HP:0025352": [ "autosomal dominant germline de novo mutation" ], "HP:0025353": [ "anti - multiple nuclear dot antibody positivity", "anti - multiple nuclear dots antibody positivity", "anti - mnd antibody", "anti - mnd antibodies", "anti - sp100 antibody positivity" ], "HP:0025354": [ "abnormal cellular phenotype" ], "HP:0025355": [ "retinal arterial macroaneurysms" ], "HP:0025356": [ "psychomotor retardation", "motormental retardation", "psychomotor impairment", "psychomotor slow", "psychomotor slowing" ], "HP:0025357": [ "erratic myoclonus", "fragmentary myoclonus" ], "HP:0025358": [ "uveal ectropion", "ectropion uveae" ], "HP:0025359": [ "polygonal renal calices", "polygonal calices", "polygonal - shape calices", "polygonal - shaped calices" ], "HP:0025360": [ "polycalycosis" ], "HP:0025361": [ "abnormality of medullary pyramid morphology" ], "HP:0025362": [ "renal medullary pyramid hypoplasia", "hypoplasia of the medullary pyramid", "hypoplasia of the medullary pyramids" ], "HP:0025363": [ "glomerular endocapillary hypercellularity", "endocapillary hypercellularity" ], "HP:0025364": [ "glomerular extracapillary hypercellularity", "extracapillary glomerular hypercellularity", "extracapillary hypercellularity" ], "HP:0025367": [ "trichoepithelioma" ], "HP:0025368": [ "abnormality of growth plate morphology" ], "HP:0025369": [ "thick growth plate", "thick growth plates" ], "HP:0025370": [ "abnormal ossification of the sacrum" ], "HP:0025371": [ "delay ossification of the sacrum", "delayed ossification of the sacrum" ], "HP:0025372": [ "loud snoring", "have loud snore", "has loud snoring", "have loud snoring", "heavy snoring", "snore loudly", "snores loudly" ], "HP:0025373": [ "interictal eeg abnormality" ], "HP:0025374": [ "duplicate odontoid process", "duplicated odontoid process" ], "HP:0025375": [ "orthotopic o odontoideum", "orthotopic os odontoideum" ], "HP:0025376": [ "hyperglutaminuria", "glutaminuria" ], "HP:0025377": [ "trigger by exertion", "triggered by exertion", "exertion trigger symptom", "exertion triggered symptoms", "trigger by physical exercise", "triggered by physical exercise" ], "HP:0025379": [ "anti - thyroid peroxidase antibody positivity" ], "HP:0025380": [ "increase circulate androstenedione concentration", "increased circulating androstenedione concentration", "increase serum androstenedione", "increased serum androstenedione" ], "HP:0025381": [ "anti - pituitary antibody positivity" ], "HP:0025382": [ "hypodipsia" ], "HP:0025383": [ "dorsocervical fat pad", "buffalo hump" ], "HP:0025384": [ "diet - resistant subcutaneous adipose tissue" ], "HP:0025385": [ "diet - resistant subcutaneous adipose tissue below waist" ], "HP:0025386": [ "bitemporal hollowing" ], "HP:0025387": [ "pill - rolling tremor", "pill roll", "pill rolling" ], "HP:0025388": [ "thyroid nodule" ], "HP:0025389": [ "pulmonary interstitial high - resolution compute tomography abnormality", "pulmonary interstitial high - resolution computed tomography abnormality", "pulmonary interstitiatial hrct abnormality" ], "HP:0025390": [ "reticular pattern on pulmonary hrct" ], "HP:0025391": [ "crazy paving pattern", "crazy pave pattern on pulmonary hrct", "crazy paving pattern on pulmonary hrct" ], "HP:0025392": [ "nodular pattern on pulmonary hrct" ], "HP:0025393": [ "reticulonodular pattern on pulmonary hrct" ], "HP:0025394": [ "cystic pattern on pulmonary hrct" ], "HP:0025395": [ "combine cystic and ground - glass pattern on pulmonary hrct", "combined cystic and ground - glass pattern on pulmonary hrct" ], "HP:0025396": [ "decrease attenuation pattern on pulmonary hrct", "decreased attenuation pattern on pulmonary hrct", "black lung pattern on pulmonary hrct" ], "HP:0025397": [ "mosaic attenuation pattern on pulmonary hrct" ], "HP:0025398": [ "nodular - perilymphatic pattern on pulmonary hrct" ], "HP:0025399": [ "nodular - centrilobular with tree - in - bud pattern on pulmonary hrct" ], "HP:0025400": [ "nodular - random pattern on pulmonary hrct" ], "HP:0025401": [ "star gaze", "staring gaze", "star eye", "staring eyes" ], "HP:0025402": [ "square - wave jerk", "square - wave jerks" ], "HP:0025403": [ "stooped posture" ], "HP:0025404": [ "abnormal visual fixation" ], "HP:0025405": [ "visual fixation instability", "instability of ocular fixation" ], "HP:0025406": [ "asthenia", "lack of energy and strength", "weakness" ], "HP:0025407": [ "rectourethral fistula", "urethrorectal fistula" ], "HP:0025408": [ "abnormal spleen morphology", "splenic lesion" ], "HP:0025409": [ "abnormal spleen physiology" ], "HP:0025410": [ "splenogonadal fusion" ], "HP:0025413": [ "fossa navicularis urethral stricture" ], "HP:0025414": [ "pendulous urethral stricture" ], "HP:0025415": [ "bulbar urethral stricture" ], "HP:0025416": [ "vaginal stricture" ], "HP:0025417": [ "patulous urethra" ], "HP:0025418": [ "renal cortical necrosis", "necrosis of the kidney cortex" ], "HP:0025419": [ "pulmonary pneumatocele", "pulmonary pneumatocoele" ], "HP:0025420": [ "diffuse alveolar hemorrhage", "diffuse alveolar haemorrhage" ], "HP:0025421": [ "pneumomediastinum" ], "HP:0025422": [ "pleural cyst" ], "HP:0025423": [ "abnormal larynx morphology" ], "HP:0025424": [ "abnormal larynx physiology" ], "HP:0025425": [ "laryngospasm" ], "HP:0025426": [ "obsolete abnormality of the bronchus", "obsolete abnormality of the bronchi", "abnormal bronchus morphology", "abnormality of the bronchus", "abnormality of the bronchi" ], "HP:0025427": [ "abnormal bronchus physiology" ], "HP:0025428": [ "bronchospasm" ], "HP:0025429": [ "abnormal cry" ], "HP:0025430": [ "high - pitch cry", "high - pitched cry" ], "HP:0025431": [ "staccato cry" ], "HP:0025432": [ "acanthoma" ], "HP:0025433": [ "decrease lecithin cholesterol acyl transferase level", "decreased lecithin cholesterol acyl transferase level" ], "HP:0025434": [ "reduce hemolytic complement activity", "reduced hemolytic complement activity", "reduce ch50", "reduced ch50" ], "HP:0025435": [ "increase circulate lactate dehydrogenase concentration", "increased circulating lactate dehydrogenase concentration", "increase lactate dehydrogenase level", "increased lactate dehydrogenase level" ], "HP:0025436": [ "elevate serum 11 - deoxycortisol", "elevated serum 11 - deoxycortisol", "elevate serum 21 - hydroxyprogesterone", "elevated serum 21 - hydroxyprogesterone", "elevate serum deoxycorticosterone", "elevated serum deoxycorticosterone" ], "HP:0025437": [ "macrocephalic sperm head" ], "HP:0025439": [ "pharyngitis" ], "HP:0025440": [ "warm reactive autoantibody positivity" ], "HP:0025441": [ "achilles tendon calcification", "calcification of the achilles tendon" ], "HP:0025443": [ "abnormal cardiac atrial physiology" ], "HP:0025444": [ "reduce amygdala volume", "reduced amygdala volume", "decrease in amygdala volume" ], "HP:0025445": [ "morphological abnormality of the papillary muscle", "morphological abnormality of the papillary muscles" ], "HP:0025446": [ "anomalous insertion of papillary muscle directly into anterior mitral leaflet" ], "HP:0025447": [ "displacement of the papillary muscle", "displacement of the papillary muscles" ], "HP:0025448": [ "anterior displacement of the papillary muscle", "anterior displacement of the papillary muscles", "anteriorly displace papillary muscle", "anteriorly displaced papillary muscles" ], "HP:0025449": [ "apically displaced anterolateral papillary muscle", "apically displace papillary muscle", "apically displaced papillary muscles" ], "HP:0025451": [ "testicular adrenal rest tumor", "testicular adrenal rest tumour" ], "HP:0025452": [ "pyoderma gangrenosum" ], "HP:0025453": [ "delay adrenarche", "delayed adrenarche" ], "HP:0025454": [ "abnormal csf metabolite level" ], "HP:0025455": [ "decrease csf 5 - hydroxyindolacetic acid", "decreased csf 5 - hydroxyindolacetic acid", "decrease csf 5 - hiaa", "decreased csf 5 - hiaa", "low csf 5 - hiaa", "low csf 5 - hydroxyindolacetic acid" ], "HP:0025456": [ "abnormal csf protein level" ], "HP:0025457": [ "decrease csf protein", "decreased csf protein", "decrease cerebrospinal fluid total protein", "decreased cerebrospinal fluid total protein", "hypoproteinorrhachia", "low csf total protein" ], "HP:0025458": [ "decrease csf albumin concentration", "decreased csf albumin concentration", "low csf albumin" ], "HP:0025459": [ "increase csf / serum albumin ratio", "increased csf / serum albumin ratio" ], "HP:0025460": [ "high myoinositol in brain by mr", "high myoinositol in brain by mrs", "high myo - inositol in brain by mr", "high myo - inositol in brain by mrs" ], "HP:0025461": [ "abnormal cell morphology" ], "HP:0025463": [ "abnormality of redox activity" ], "HP:0025464": [ "increase reactive oxygen specie production", "increased reactive oxygen species production", "increase ro production", "increased ros production", "oxidative stress" ], "HP:0025465": [ "abnormal circulate beta globulin level", "abnormal circulating beta globulin level" ], "HP:0025466": [ "beta 2 - microglobulinuria" ], "HP:0025469": [ "anagen effluvium" ], "HP:0025470": [ "telogen effluvium" ], "HP:0025471": [ "congenital panfollicular nevus" ], "HP:0025472": [ "recurrent plantar mycosis" ], "HP:0025473": [ "hyperpigmented papule" ], "HP:0025474": [ "erythematous plaque", "violaceous plaque" ], "HP:0025475": [ "erythematous macule" ], "HP:0025476": [ "testicular lipomatosis" ], "HP:0025477": [ "periarticular calcification" ], "HP:0025478": [ "atrial standstill", "silent atrium" ], "HP:0025479": [ "self - neglect" ], "HP:0025480": [ "lipomyelomeningocele" ], "HP:0025481": [ "cervical hemivertebrae" ], "HP:0025482": [ "positive perchlorate discharge test" ], "HP:0025483": [ "abnormal circulate thyroglobulin level", "abnormal circulating thyroglobulin level" ], "HP:0025484": [ "increase circulate thyroglobulin level", "increased circulating thyroglobulin level" ], "HP:0025485": [ "vaginal adenosis" ], "HP:0025486": [ "fuse labium majora", "fused labia majora" ], "HP:0025487": [ "abnormality of bladder morphology" ], "HP:0025488": [ "detrusor sphincter dyssynergia" ], "HP:0025489": [ "bladder duplication" ], "HP:0025490": [ "myocardial bridging", "intramyocardial coronary artery course" ], "HP:0025491": [ "venous stenosis" ], "HP:0025492": [ "microcoria" ], "HP:0025493": [ "palmoplantar erythema" ], "HP:0025494": [ "coat aorta", "coated aorta" ], "HP:0025495": [ "descend aorta hypoplasia", "descending aorta hypoplasia" ], "HP:0025496": [ "abnormal coronary artery physiology" ], "HP:0025497": [ "coronary artery spasm", "coronary artery vasospasm" ], "HP:0025498": [ "aceruloplasminemia", "aceruloplasminaemia" ], "HP:0025499": [ "class i obesity", "obesity grade 1" ], "HP:0025500": [ "class ii obesity", "obesity grade 2" ], "HP:0025501": [ "class iii obesity", "obesity grade 3" ], "HP:0025502": [ "overweight" ], "HP:0025503": [ "anomalous coronary artery arise from the opposite sinus", "anomalous coronary artery arising from the opposite sinus" ], "HP:0025505": [ "anomalous origin of the circumflex artery from the right sinus of valsalva" ], "HP:0025506": [ "coronary artery sandwich anomaly", "anomalous coronary artery with aortic origin and course between the great artery", "anomalous coronary artery with aortic origin and course between the great arteries" ], "HP:0025507": [ "yellow papule", "yellow - orange papule" ], "HP:0025508": [ "gottron 's papule", "gottron 's papules", "gottron papule", "gottron papules" ], "HP:0025509": [ "piezogenic pedal papule", "piezogenic pedal papules" ], "HP:0025510": [ "nevus spilus", "speckle lentiginous nevus", "speckled lentiginous nevus" ], "HP:0025511": [ "nevus sebaceus" ], "HP:0025512": [ "skin - color papule", "skin - colored papule", "flesh - color papule", "flesh - colored papule" ], "HP:0025513": [ "scleral rupture" ], "HP:0025514": [ "morning glory anomaly", "morning glory disc anomaly", "morning glory optic disc" ], "HP:0025515": [ "delay thelarche", "delayed thelarche" ], "HP:0025516": [ "coronary - pulmonary artery fistula" ], "HP:0025517": [ "hypoplastic hippocampus", "small hippocampus", "underdeveloped hippocampus" ], "HP:0025518": [ "visual gaze preference" ], "HP:0025519": [ "multiple biliary hamartoma", "multiple biliary hamartomas", "biliary hamartoma", "multiple bile duct hamartoma", "multiple bile duct hamartomas", "von meyenburg complex", "von meyenburg complexes" ], "HP:0025520": [ "calcinosis cutis", "cutaneous calcification" ], "HP:0025521": [ "increase body fat percentage", "increased body fat percentage" ], "HP:0025522": [ "elongate chordae tendinae of the mitral valve", "elongated chordae tendinae of the mitral valve" ], "HP:0025523": [ "abnormal morphology of the chordae tendinae of the mitral valve" ], "HP:0025524": [ "palmoplantar scale skin", "palmoplantar scaling skin", "palmoplantar psoriasis" ], "HP:0025525": [ "scale skin on fingertip", "scaling skin on fingertip" ], "HP:0025526": [ "psoriasiform lesion", "erythemato - squamous plaque", "erythematosquamous plaque", "psoriatic - like lesion" ], "HP:0025527": [ "serpiginous cutaneous lesion", "serpiginous eruption" ], "HP:0025528": [ "annular cutaneous lesion" ], "HP:0025529": [ "hyperpigmented nodule" ], "HP:0025530": [ "xanthoma of the palmar crease", "xanthomas of the palmar creases", "xanthoma palmare striatum", "xanthoma striatum palmare" ], "HP:0025531": [ "harlequin phenomenon" ], "HP:0025532": [ "positive pathergy test" ], "HP:0025533": [ "peau d'orange" ], "HP:0025534": [ "ocular melanocytosis", "melanosis oculus", "melanosis oculi", "ocular melanosis" ], "HP:0025535": [ "shawl sign" ], "HP:0025536": [ "v - sign" ], "HP:0025537": [ "plantar edema", "plantar oedema" ], "HP:0025538": [ "palmar edema", "palmar oedema" ], "HP:0025539": [ "abnormal b cell subset distribution" ], "HP:0025540": [ "abnormal t cell subset distribution" ], "HP:0025546": [ "abnormal mean corpuscular hemoglobin concentration", "abnormal mch", "abnormal mchc", "abnormal mean corpuscular haemoglobin", "abnormal mean corpuscular haemoglobin concentration", "abnormal mean corpuscular hb concentration" ], "HP:0025547": [ "decrease mean corpuscular hemoglobin concentration", "decreased mean corpuscular hemoglobin concentration", "decrease mch", "decreased mch", "decrease mchc", "decreased mchc", "decrease mean corpuscular haemoglobin", "decreased mean corpuscular haemoglobin", "decrease mean corpuscular haemoglobin concentration", "decreased mean corpuscular haemoglobin concentration", "decrease mean corpuscular hb concentration", "decreased mean corpuscular hb concentration" ], "HP:0025548": [ "increase mean corpuscular hemoglobin concentration", "increased mean corpuscular hemoglobin concentration", "increase mch", "increased mch", "increase mchc", "increased mchc", "increase mean corpuscular haemoglobin", "increased mean corpuscular haemoglobin", "increase mean corpuscular haemoglobin concentration", "increased mean corpuscular haemoglobin concentration", "increase mean corpuscular hb concentration", "increased mean corpuscular hb concentration" ], "HP:0025549": [ "eccentric visual fixation", "eccentric fixation" ], "HP:0025550": [ "elevate circulate ribitol concentration", "elevated circulating ribitol concentration", "increase level of ribitol in serum", "increased level of ribitol in serum" ], "HP:0025551": [ "optic nerve misrouting", "optic pathway misrouting", "visual pathway misrouting" ], "HP:0025552": [ "periorbital purpura" ], "HP:0025553": [ "periorbital ecchymosis with tarsal plate sparing", "raccoon eye", "raccoon eyes" ], "HP:0025554": [ "yellow nodule" ], "HP:0025555": [ "periungual teleangiectasia" ], "HP:0025558": [ "lamellar cataract with rider", "lamellar cataract with riders" ], "HP:0025559": [ "coronary cataract" ], "HP:0025560": [ "anterior chamber cell", "anterior chamber cells" ], "HP:0025561": [ "anterior chamber cell grade 1+", "anterior chamber cells grade 1+" ], "HP:0025562": [ "anterior chamber cell grade 0.5+", "anterior chamber cells grade 0.5+" ], "HP:0025563": [ "anterior chamber cell grade 0", "anterior chamber cells grade 0" ], "HP:0025564": [ "anterior chamber cell grade 2+", "anterior chamber cells grade 2+" ], "HP:0025565": [ "anterior chamber cell grade 3+", "anterior chamber cells grade 3+" ], "HP:0025566": [ "anterior chamber cell grade 4+", "anterior chamber cells grade 4+" ], "HP:0025567": [ "central serous chorioretinopathy" ], "HP:0025568": [ "abnormal morphology of the choroidal vasculature" ], "HP:0025569": [ "polypoidal choroidal vasculopathy" ], "HP:0025570": [ "choroidal vascular hyperpermeability", "choroidal hyperpermeability" ], "HP:0025571": [ "christmas tree cataract" ], "HP:0025572": [ "punctal stenosis", "lacrimal punctum stenosis", "stenosis of the lacrimal punctum" ], "HP:0025573": [ "mild myopia" ], "HP:0025574": [ "macular hemorrhage", "macular haemorrhage" ], "HP:0025575": [ "abnormal superior vena cava morphology" ], "HP:0025576": [ "abnormal inferior vena cava morphology" ], "HP:0025578": [ "aortic valve prolapse" ], "HP:0025579": [ "abnormal leave atrium morphology", "abnormal left atrium morphology" ], "HP:0025580": [ "abnormal right atrium morphology" ], "HP:0025581": [ "foveal hemorrhage", "foveal haemorrhage" ], "HP:0025582": [ "submacular hemorrhage", "sub - macular haemorrhage", "sub - macular hemorrhage", "submacular haemorrhage" ], "HP:0025583": [ "tapetal - like fundal reflex" ], "HP:0025584": [ "hypotropia" ], "HP:0025585": [ "hyperphoria" ], "HP:0025586": [ "hypertropia" ], "HP:0025587": [ "hyperdeviation" ], "HP:0025588": [ "hypodeviation" ], "HP:0025589": [ "cyclodeviation" ], "HP:0025590": [ "abnormal extraocular muscle physiology" ], "HP:0025591": [ "abnormal superior oblique muscle physiology" ], "HP:0025592": [ "superior oblique muscle weakness", "superior oblique palsy" ], "HP:0025593": [ "superior oblique muscle restriction" ], "HP:0025594": [ "superior oblique muscle overaction" ], "HP:0025595": [ "superior oblique muscle underaction", "under - depression in adduction" ], "HP:0025596": [ "abnormal inferior oblique muscle physiology" ], "HP:0025597": [ "inferior oblique muscle restriction" ], "HP:0025598": [ "inferior oblique muscle weakness", "inferior oblique palsy" ], "HP:0025599": [ "inferior oblique muscle overaction" ], "HP:0025600": [ "abnormal inferior rectus muscle physiology" ], "HP:0025601": [ "inferior rectus muscle weakness" ], "HP:0025602": [ "inferior rectus muscle restriction" ], "HP:0025603": [ "abnormal superior rectus muscle physiology" ], "HP:0025604": [ "orbital schwannoma" ], "HP:0025605": [ "lid lag on downgaze", "eyelid lag", "lid lag", "von graefe sign" ], "HP:0025606": [ "abnormal medial rectus muscle physiology" ], "HP:0025607": [ "upper eyelid entropion" ], "HP:0025608": [ "cicatricial ectropion" ], "HP:0025609": [ "anterior blepharitis" ], "HP:0025610": [ "posterior blepharitis", "meibomian gland disease", "meibomian gland dysfunction" ], "HP:0025611": [ "epicanthus superciliaris" ], "HP:0025612": [ "corneal astigmatism" ], "HP:0025613": [ "focal emotional seizure", "affective seizure", "emotional seizure", "focal affective seizure", "partial emotional seizure" ], "HP:0025615": [ "abscess" ], "HP:0025616": [ "sterile abscess" ], "HP:0025617": [ "abnormal plasma cell count" ], "HP:0025618": [ "reduce plasma cell count", "reduced plasma cell count" ], "HP:0025619": [ "elevate plasma cell count", "elevated plasma cell count" ], "HP:0025620": [ "abnormal proportion of cd4+ central memory cell", "abnormal proportion of cd4+ central memory cells", "abnormal proportion of central memory cd4+ , alpha - beta t cell", "abnormal proportion of central memory cd4+ , alpha - beta t cells" ], "HP:0025621": [ "obsolete increase proportion of cd4+ central memory cell", "obsolete increased proportion of cd4+ central memory cells", "increase proportion of central memory cd4 - positive , alpha - beta t cell", "increased proportion of central memory cd4 - positive , alpha - beta t cells", "elevate proportion central memory cd4 - positive , alpha - beta t cell", "elevated proportion central memory cd4 - positive , alpha - beta t cells", "elevate proportion of cd4+ central memory cell", "elevated proportion of cd4+ central memory cells", "increase proportion of cd4+ central memory cell", "increased proportion of cd4+ central memory cells", "increase proportion of central memory cd4+ , alpha - beta t cell", "increased proportion of central memory cd4+ , alpha - beta t cell" ], "HP:0025622": [ "obsolete decrease proportion of cd4+ central memory cell", "obsolete decreased proportion of cd4+ central memory cells", "decreased proportion of central memory cd4 - positive , alpha - beta t cell", "decreased proportion of central memory cd4 - positive , alpha - beta t cells", "decreased proportion of cd4+ central memory cell", "decreased proportion of cd4+ central memory cells", "decreased proportion of cd4 - positive central memory cell", "decreased proportion of cd4 - positive central memory cells", "decreased proportion of central memory cd4+ , alpha - beta t cell", "reduce proportion of cd4+ central memory cell", "reduced proportion of cd4+ central memory cells" ], "HP:0025623": [ "abnormal proportion of cd4+ effector memory cell", "abnormal proportion of cd4+ effector memory cells", "abnormal proportion of cd4 - positive effector memory cell", "abnormal proportion of cd4 - positive effector memory cells", "abnormal proportion of effector memory cd4 - positive , alpha - beta t cell", "abnormal proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cell", "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cells" ], "HP:0410382": [ "abnormal proportion of cd4+ effector memory cell", "abnormal proportion of cd4+ effector memory cells", "abnormal proportion of cd4 - positive effector memory cell", "abnormal proportion of cd4 - positive effector memory cells", "abnormal proportion of effector memory cd4 - positive , alpha - beta t cell", "abnormal proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cell", "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cells" ], "HP:0025624": [ "reduce proportion of cd4+ effector memory t cell", "reduced proportion of cd4+ effector memory t cells", "decreased proportion of cd4+ effector memory t cell", "decreased proportion of cd4+ effector memory t cells", "decreased proportion of cd4 - positive effector memory t cell", "decreased proportion of cd4 - positive effector memory t cells", "decreased proportion of effector memory cd4 - positive , alpha - beta t cell", "decreased proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete decrease proportion of effector memory cd4 - positive , alpha - beta t cell", "obsolete decreased proportion of effector memory cd4 - positive , alpha - beta t cells" ], "HP:0410387": [ "reduce proportion of cd4+ effector memory t cell", "reduced proportion of cd4+ effector memory t cells", "decreased proportion of cd4+ effector memory t cell", "decreased proportion of cd4+ effector memory t cells", "decreased proportion of cd4 - positive effector memory t cell", "decreased proportion of cd4 - positive effector memory t cells", "decreased proportion of effector memory cd4 - positive , alpha - beta t cell", "decreased proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete decrease proportion of effector memory cd4 - positive , alpha - beta t cell", "obsolete decreased proportion of effector memory cd4 - positive , alpha - beta t cells" ], "HP:0025625": [ "elevate proportion of cd4+ effector memory t cell", "elevated proportion of cd4+ effector memory t cells", "increase proportion of cd4+ effector memory t cell", "increased proportion of cd4+ effector memory t cells", "increase proportion of cd4 - positive effector memory t cell", "increased proportion of cd4 - positive effector memory t cells", "increase proportion of effector cd4 - positive , alpha - beta t cell", "increased proportion of effector cd4 - positive , alpha - beta t cells" ], "HP:0025626": [ "increase circulate oleate level", "increased circulating oleate level" ], "HP:0025627": [ "increase circulate octadecanoate level", "increased circulating octadecanoate level" ], "HP:0025628": [ "increase circulate myristoleate level", "increased circulating myristoleate level" ], "HP:0025629": [ "anti - myelin - associate glycoprotein antibody positivity", "anti - myelin - associated glycoprotein antibody positivity" ], "HP:0025630": [ "argininosuccinic aciduria" ], "HP:0025631": [ "alpha - aminobutyric aciduria" ], "HP:0025632": [ "reduce reactive oxygen specie production in neutrophil", "reduced reactive oxygen species production in neutrophils" ], "HP:0025633": [ "abnormal ureter morphology" ], "HP:0025634": [ "abnormal ureter physiology" ], "HP:0025635": [ "ureteral polyp", "polyp of the ureter", "ureter polyp" ], "HP:0025636": [ "endometritis", "endometrial inflammation", "inflammation of the inner lining of the uterus" ], "HP:0025637": [ "vasospasm", "angiospasm", "blood vessel spasm", "vascular spasm" ], "HP:0025638": [ "elevate urinary n - butyrylglycine", "elevated urinary n - butyrylglycine" ], "HP:0025639": [ "increase urinary zinc level", "increased urinary zinc level" ], "HP:0025640": [ "abnormal urinary mineral level" ], "HP:0025641": [ "elevate circulate glycolate concentration", "elevated circulating glycolate concentration" ], "HP:0025643": [ "tarlov cyst", "perineural cyst" ], "HP:0025644": [ "fixation - off epileptiform discharge", "fixation - off epileptiform discharges", "fixation - off sensitivity" ], "HP:0025646": [ "bilateral polymicrogyria" ], "HP:0025647": [ "steroid - sensitive nephrotic syndrome" ], "HP:0025648": [ "steroid - sensitive nephrotic syndrome with infrequent relapse", "steroid - sensitive nephrotic syndrome with infrequent relapses" ], "HP:0025649": [ "steroid - sensitive nephrotic syndrome with frequent relapse", "steroid - sensitive nephrotic syndrome with frequent relapses" ], "HP:0025650": [ "steroid - dependent nephrotic syndrome" ], "HP:0030000": [ "emg : repetitive nerve stimulation abnormality" ], "HP:0030001": [ "lagopthalmos", "eyelid stay open", "eyelids stay open", "inability to close the eyelid", "inability to close the eyelids" ], "HP:0030002": [ "nocturnal lagophthalmos", "eyelid stay open at night", "eyelids stay open at night", "inability to close the eyelid at night", "inability to close the eyelids at night" ], "HP:0030003": [ "paralytic lagophthalmos" ], "HP:0030004": [ "cicatricial lagophthalmos", "eyelid stay open due to scar", "eyelids stay open due to scarring", "inability to close the eyelid due to scar", "inability to close the eyelids due to scarring" ], "HP:0030005": [ "capillary leak", "increase capillary permeability", "increased capillary permeability", "systemic capillary leak syndrome" ], "HP:0030006": [ "single fiber emg abnormality", "single fibre emg abnormality" ], "HP:0030007": [ "emg : positive sharp wave", "emg : positive sharp waves" ], "HP:0030008": [ "cervical agenesis", "absent cervix", "aplasia of the cervix", "cervical aplasia" ], "HP:0030009": [ "cervical insufficiency", "incompetent cervix" ], "HP:0030010": [ "hydrometrocolpos" ], "HP:0030011": [ "imperforate hymen" ], "HP:0030012": [ "abnormal female reproductive system physiology", "abnormal female genital system physiology" ], "HP:0030013": [ "obsolete endometriosis", "endometriosis" ], "HP:0030014": [ "female sexual dysfunction" ], "HP:0030015": [ "female anorgasmia", "female orgasmic disorder" ], "HP:0030016": [ "dyspareunia" ], "HP:0030017": [ "vaginismus", "myalgia of pelvic floor", "pelvic floor myalgia" ], "HP:0030018": [ "decrease female libido", "decreased female libido", "decrease female sex drive", "decreased female sex drive" ], "HP:0030019": [ "increase female libido", "increased female libido", "increase female sex drive", "increased female sex drive" ], "HP:0030021": [ "auricular tag" ], "HP:0030022": [ "question mark ear", "constrict ear", "constricted ear", "cosman ear", "question mark ears" ], "HP:0030023": [ "quelprud nodule" ], "HP:0030024": [ "pretragal ectopia", "accessory tragus", "extra cartilage in front of the ear", "pretragal duplication" ], "HP:0030025": [ "auricular pit" ], "HP:0030026": [ "square superior portion of helix", "squared superior portion of helix" ], "HP:0030027": [ "abnormality of the nasal cartilage", "abnormality of cartilage of nose", "anomaly of cartilage of nose", "anomaly of nasal cartilage", "deformity of cartilage of nose", "deformity of nasal cartilage", "malformation of cartilage of nose", "malformation of nasal cartilage" ], "HP:0030028": [ "absent nasal cartilage", "absent cartilage of nose", "agenesis of cartilage of nose", "agenesis of nasal cartilage", "failure of development of cartilage of nose", "failure of development of nasal cartilage", "miss cartilage of nose", "missing cartilage of nose", "miss nasal cartilage", "missing nasal cartilage" ], "HP:0030029": [ "splayed finger", "splayed fingers", "spreading of the finger", "spreading of the fingers" ], "HP:0030030": [ "absent ray" ], "HP:0030031": [ "small toe" ], "HP:0030032": [ "partial absence of foot" ], "HP:0030033": [ "small finger" ], "HP:0030034": [ "glomerular basement membrane lamellation", "lamellated / basket - woven thicken glomerular basement membrane", "lamellated / basket - woven thickened glomerular basement membranes", "lamellation of the glomerular basement membrane" ], "HP:0030035": [ "struvite nephrolithiasis", "struvite kidney stone", "struvite kidney stones" ], "HP:0030036": [ "isothenuria" ], "HP:0030037": [ "bifid ureter" ], "HP:0030038": [ "enchondroma" ], "HP:0030039": [ "fuse thoracic vertebra", "fused thoracic vertebrae" ], "HP:0030040": [ "fuse lumbar vertebra", "fused lumbar vertebrae" ], "HP:0030041": [ "schmorl 's node", "schmorl 's nodes" ], "HP:0030042": [ "incomplete ossification of pubis", "incomplete maturation of the pubic bone" ], "HP:0030043": [ "hip subluxation", "partial hip dislocation", "subluxation involve the hip joint", "subluxation involving the hip joint" ], "HP:0030044": [ "flexion contracture of digit" ], "HP:0030045": [ "serpentine fibula", "s - shape calf bone", "s - shaped calf bone" ], "HP:0030046": [ "hypoglycosylation of alpha - dystroglycan" ], "HP:0030047": [ "abnormal lateral ventricle morphology", "abnormality of lateral ventricle" ], "HP:0030048": [ "colpocephaly" ], "HP:0030049": [ "brain abscess" ], "HP:0030050": [ "narcolepsy" ], "HP:0030051": [ "tip - toe gait", "walk on tiptoe", "walking on tiptoes" ], "HP:0002394": [ "tip - toe gait", "walk on tiptoe", "walking on tiptoes" ], "HP:0030052": [ "inguinal freckling", "freckle in groin region", "freckles in groin region" ], "HP:0030053": [ "stiff skin", "indurate skin", "indurated skin" ], "HP:0030054": [ "perifollicular fibrosis" ], "HP:0030055": [ "hyperconvex toenail" ], "HP:0030056": [ "uncombable hair" ], "HP:0030057": [ "autoimmune antibody positivity" ], "HP:0030058": [ "sickled erythrocyte", "sickled erythrocytes" ], "HP:0030059": [ "mitochondrial depletion" ], "HP:0030060": [ "nervous tissue neoplasm" ], "HP:0030061": [ "neuroectodermal neoplasm" ], "HP:0030062": [ "craniopharyngioma" ], "HP:0030063": [ "neuroepithelial neoplasm" ], "HP:0030064": [ "neurocytoma" ], "HP:0030065": [ "primitive neuroectodermal tumor", "primitive neuroectodermal tumour" ], "HP:0030066": [ "ependymoblastoma" ], "HP:0030067": [ "peripheral primitive neuroectodermal neoplasm" ], "HP:0030068": [ "olfactory esthesioneuroblastoma" ], "HP:0030069": [ "primary central nervous system lymphoma", "primary cns lymphoma" ], "HP:0030070": [ "central primitive neuroectodermal tumor", "central primitive neuroectodermal tumour" ], "HP:0030071": [ "medulloepithelioma" ], "HP:0030072": [ "paranasal sinus neoplasm", "neoplasm of the paranasal sinus", "neoplasm of the paranasal sinuses", "tumor of the paranasal sinus", "tumor of the paranasal sinuses", "tumour of the paranasal sinus", "tumour of the paranasal sinuses" ], "HP:0030073": [ "obsolete pharyngeal neoplasm", "neoplasm of the pharynx", "neoplasia of the pharynx", "pharyngeal neoplasm", "tumor of the pharynx", "tumour of the pharynx" ], "HP:0030074": [ "chemodectoma", "chemodectomas" ], "HP:0030075": [ "ductal carcinoma in situ" ], "HP:0030076": [ "lobular carcinoma in situ" ], "HP:0030077": [ "bronchial neoplasm" ], "HP:0030078": [ "lung adenocarcinoma" ], "HP:0030079": [ "cervix cancer" ], "HP:0030080": [ "burkitt lymphoma" ], "HP:0030081": [ "punctate periventricular t2 hyperintense focus", "punctate periventricular t2 hyperintense foci" ], "HP:0030082": [ "abnormal drinking behavior", "abnormal drinking behaviour" ], "HP:0030083": [ "salt crave", "salt craving" ], "HP:0030084": [ "clinodactyly", "curvature of digit", "permanent curving of the finger" ], "HP:0030085": [ "abnormal csf lactate level" ], "HP:0030086": [ "reduce csf lactate", "reduced csf lactate", "hypolactatorachia" ], "HP:0030087": [ "abnormal circulate testosterone concentration", "abnormal circulating testosterone concentration", "abnormal serum testosterone level", "abnormal testosterone level" ], "HP:0030088": [ "increase serum testosterone level", "increased serum testosterone level", "high serum testosterone level", "high serum testosterone levels", "increased serum testosterone levels", "increase testosterone", "increased testosterone" ], "HP:0030089": [ "abnormal muscle fiber protein expression", "abnormal muscle fibre protein expression" ], "HP:0030090": [ "abnormal muscle fiber merosin expression", "abnormal muscle fibre merosin expression" ], "HP:0030091": [ "absent muscle fiber merosin", "absent merosin stain in muscle biopsy", "absent merosin staining in muscle biopsy", "absent muscle fiber laminin alpha 2", "absent muscle fibre laminin alpha 2", "absent muscle fibre merosin" ], "HP:0030092": [ "reduce muscle fiber merosin", "reduced muscle fiber merosin", "reduce muscle fibre merosin", "reduced muscle fibre merosin" ], "HP:0030093": [ "abnormal muscle fiber laminin beta 1", "abnormal muscle fibre laminin beta 1" ], "HP:0030094": [ "reduce muscle fiber laminin beta 1", "reduced muscle fiber laminin beta 1", "reduce muscle fibre laminin beta 1", "reduced muscle fibre laminin beta 1" ], "HP:0030095": [ "reduce muscle collagen vi", "reduced muscle collagen vi", "reduce collagen 6 in muscle", "reduced collagen 6 in muscle" ], "HP:0030096": [ "abnormal muscle fiber dystrophin expression", "abnormal muscle fibre dystrophin expression" ], "HP:0030097": [ "absent muscle dystrophin expression" ], "HP:0030098": [ "reduce muscle dystrophin expression", "reduced muscle dystrophin expression", "reduce dystrophin staining in muscle", "reduced dystrophin staining in muscle" ], "HP:0030099": [ "reduce muscle fiber alpha dystroglycan", "reduced muscle fiber alpha dystroglycan", "reduce muscle fibre alpha dystroglycan", "reduced muscle fibre alpha dystroglycan" ], "HP:0030100": [ "abnormal muscle fiber alpha sarcoglycan", "abnormal muscle fibre alpha sarcoglycan" ], "HP:0030101": [ "absent muscle fiber alpha sarcoglycan", "absent muscle fibre alpha sarcoglycan" ], "HP:0030102": [ "reduce muscle fiber alpha sarcoglycan", "reduced muscle fiber alpha sarcoglycan", "reduce muscle fibre alpha sarcoglycan", "reduced muscle fibre alpha sarcoglycan" ], "HP:0030103": [ "abnormal muscle fiber beta sarcoglycan", "abnormal muscle fibre beta sarcoglycan" ], "HP:0030104": [ "abnormal muscle fiber gamma sarcoglycan", "abnormal muscle fibre gamma sarcoglycan" ], "HP:0030105": [ "abnormal muscle fiber delta sarcoglycan", "abnormal muscle fibre delta sarcoglycan" ], "HP:0030106": [ "absent muscle fiber beta sarcoglycan", "absent muscle fibre beta sarcoglycan" ], "HP:0030107": [ "reduce muscle fiber beta sarcoglycan", "reduced muscle fiber beta sarcoglycan", "reduce muscle fibre beta sarcoglycan", "reduced muscle fibre beta sarcoglycan" ], "HP:0030108": [ "reduce muscle fiber gamma sarcoglycan", "reduced muscle fiber gamma sarcoglycan", "reduce muscle fibre gamma sarcoglycan", "reduced muscle fibre gamma sarcoglycan" ], "HP:0030109": [ "absent muscle fiber gamma sarcoglycan", "absent muscle fibre gamma sarcoglycan" ], "HP:0030110": [ "absent muscle fiber delta sarcoglycan", "absent muscle fibre delta sarcoglycan" ], "HP:0030111": [ "reduce muscle fiber delta sarcoglycan", "reduced muscle fiber delta sarcoglycan", "reduce muscle fibre delta sarcoglycan", "reduced muscle fibre delta sarcoglycan" ], "HP:0030112": [ "abnormal muscle fiber alpha dystroglycan", "abnormal muscle fibre alpha dystroglycan" ], "HP:0030113": [ "abnormal muscle fiber dysferlin", "abnormal muscle fibre dysferlin" ], "HP:0030114": [ "absent muscle fiber dysferlin", "absent muscle fibre dysferlin" ], "HP:0030115": [ "reduce muscle fiber dysferlin", "reduced muscle fiber dysferlin", "reduce muscle fibre dysferlin", "reduced muscle fibre dysferlin" ], "HP:0030116": [ "abnormal muscle fiber emerin", "abnormal muscle fibre emerin" ], "HP:0030117": [ "absent muscle fiber emerin", "absent muscle fibre emerin" ], "HP:0030118": [ "reduce muscle fiber emerin", "reduced muscle fiber emerin", "reduce muscle fibre emerin", "reduced muscle fibre emerin" ], "HP:0030119": [ "abnormal muscle fiber calpain - 3", "abnormal muscle fibre calpain - 3" ], "HP:0030120": [ "absent muscle fiber calpain - 3", "absent muscle fibre calpain - 3" ], "HP:0030121": [ "reduce muscle fiber calpain - 3", "reduced muscle fiber calpain - 3", "reduce muscle fibre calpain - 3", "reduced muscle fibre calpain - 3" ], "HP:0030122": [ "reduce muscle fiber perlecan", "reduced muscle fiber perlecan", "reduce muscle fibre perlecan", "reduced muscle fibre perlecan" ], "HP:0030123": [ "abnormal muscle fiber lamin a / c", "abnormal muscle fibre lamin a / c" ], "HP:0030124": [ "reduce muscle fiber lamin a / c", "reduced muscle fiber lamin a / c", "reduce muscle fibre lamin a / c", "reduced muscle fibre lamin a / c" ], "HP:0030125": [ "sacralization of the fifth lumbar vertebra", "l5 sacralization" ], "HP:0030126": [ "abnormality of the endometrium" ], "HP:0030127": [ "obsolete endometriosis", "endometriosis" ], "HP:0030129": [ "impaired ristocetin cofactor assay activity" ], "HP:0030130": [ "impaired von willibrand factor collagen binding activity" ], "HP:0030131": [ "abnormal von willebrand factor multimer distribution" ], "HP:0030132": [ "absence of large von willibrand factor multimers" ], "HP:0030133": [ "abnormal presence of ultra - large von willebrand factor multimers" ], "HP:0030134": [ "total absence von willebrand factor multimers" ], "HP:0030135": [ "absence of intermediate von willibrand factor multimers" ], "HP:0030136": [ "enhance ristocetin cofactor assay activity", "enhanced ristocetin cofactor assay activity" ], "HP:0030137": [ "prolonged bleeding follow circumcision", "prolonged bleeding following circumcision" ], "HP:0030138": [ "excessive bleeding from superficial cut", "excessive bleeding from superficial cuts" ], "HP:0030139": [ "excessive bleeding after a venipuncture" ], "HP:0030140": [ "oral cavity bleeding", "bleed from mouth", "bleeding from mouth", "oral cavity haemorrhage", "oral cavity hemorrhage" ], "HP:0030141": [ "abnormality of the posterior hairline", "abnormality of hairline at back of head" ], "HP:0030142": [ "abnormal bowel sound", "abnormal bowel sounds" ], "HP:0030143": [ "hyperactive bowel sound", "hyperactive bowel sounds", "borborygmi", "increase bowel sound", "increased bowel sounds" ], "HP:0030144": [ "hypoactive bowel sound", "hypoactive bowel sounds", "decrease bowel sound", "decreased bowel sounds" ], "HP:0030145": [ "lack of bowel sound", "lack of bowel sounds" ], "HP:0030146": [ "abnormal liver parenchyma morphology" ], "HP:0030147": [ "truncal titubation" ], "HP:0030148": [ "heart murmur", "cardiac murmur", "cardiac murmurs", "heart murmurs" ], "HP:0030149": [ "cardiogenic shock", "cardiovascular shock" ], "HP:0030150": [ "plasmacytosis" ], "HP:0030151": [ "cholangitis", "bile duct inflammation" ], "HP:0030152": [ "obsolete biliary tract neoplasm", "biliary tract neoplasm", "neoplasia of the biliary tract" ], "HP:0030153": [ "cholangiocarcinoma", "bile duct cancer" ], "HP:0030154": [ "gallbladder perforation", "gall bladder perforation" ], "HP:0030155": [ "scrotal pain" ], "HP:0030156": [ "bence jones proteinuria" ], "HP:0030157": [ "flank pain", "kidney pain" ], "HP:0030158": [ "cervical ectropion", "cervical ectopy", "cervical erosion" ], "HP:0030159": [ "cervical polyp", "cervical tumor", "cervical tumour" ], "HP:0030160": [ "cervicitis", "uterine cervicitis", "uterine cervix inflammation" ], "HP:0030161": [ "vaginal pruritus" ], "HP:0030162": [ "glomerulomegaly" ], "HP:0030163": [ "abnormal vascular physiology" ], "HP:0030164": [ "jaw claudication", "jaw pain while chew", "jaw pain while chewing" ], "HP:0030165": [ "temporal artery tortuosity" ], "HP:0030166": [ "night sweat", "night sweats", "nocturnal hyperhidrosis" ], "HP:0030167": [ "antimitochondrial antibody positivity", "serum antimitochrondrial antibody", "serum antimitochrondrial antibodies" ], "HP:0030168": [ "dilate superficial abdominal vein", "dilated superficial abdominal veins", "dilatation of the superficial abdominal vein", "dilatation of the superficial abdominal veins" ], "HP:0030169": [ "gastric varix", "gastric varices" ], "HP:0030170": [ "cystic artery pseudoaneurysm" ], "HP:0030171": [ "perirenal hematoma" ], "HP:0030172": [ "peripheral amyelination" ], "HP:0030173": [ "peripheral hypermyelination", "increase peripheral myelination", "increased peripheral myelination" ], "HP:0030174": [ "increase peripheral myelin thickness", "increased peripheral myelin thickness" ], "HP:0030175": [ "myelin tomacula", "tomacula" ], "HP:0030176": [ "asymmetric peripheral demyelination" ], "HP:0030177": [ "abnormality of peripheral nervous system electrophysiology", "abnormal nerve conduction study" ], "HP:0030178": [ "abnormality of central nervous system electrophysiology", "abnormality of cns electrophysiology" ], "HP:0030179": [ "abnormal peripheral action potential amplitude" ], "HP:0030180": [ "oppenheim reflex", "oppenheim sign" ], "HP:0030181": [ "gordon reflex", "gordon sign" ], "HP:0030182": [ "tetraplegia / tetraparesis" ], "HP:0030183": [ "impair visually enhance vestibulo - ocular reflex", "impaired visually enhanced vestibulo - ocular reflex", "visually enhance vestibulo - ocular reflex impairment", "visually enhanced vestibulo - ocular reflex impairment", "vvor impairment" ], "HP:0030185": [ "isometric tremor", "dystonia tremor" ], "HP:0030186": [ "kinetic tremor", "essential tremor" ], "HP:0030187": [ "titubation" ], "HP:0030188": [ "tremor by anatomical site", "tremor of a body part" ], "HP:0030190": [ "oral motor hypotonia" ], "HP:0030191": [ "abnormal peripheral nervous system synaptic transmission", "abnormal pns synaptic transmission" ], "HP:0030192": [ "fatigable weakness of bulbar muscle", "fatigable weakness of bulbar muscles" ], "HP:0030193": [ "fatigable weakness of chew muscle", "fatigable weakness of chewing muscles" ], "HP:0030194": [ "fatigable weakness of speech muscle", "fatigable weakness of speech muscles" ], "HP:0030195": [ "fatigable weakness of swallow muscle", "fatigable weakness of swallowing muscles" ], "HP:0030196": [ "fatigable weakness of respiratory muscle", "fatigable weakness of respiratory muscles" ], "HP:0030197": [ "fatigable weakness of skeletal muscle", "fatigable weakness of skeletal muscles" ], "HP:0030198": [ "fatigable weakness of distal limb muscle", "fatigable weakness of distal limb muscles" ], "HP:0030199": [ "fatigable weakness of neck muscle", "fatigable weakness of neck muscles" ], "HP:0030200": [ "fatiguable weakness of proximal limb muscle", "fatiguable weakness of proximal limb muscles" ], "HP:0030201": [ "response to drug act on neuromuscular transmission", "response to drugs acting on neuromuscular transmission" ], "HP:0030202": [ "favorable response of weakness to acetylcholine esterase inhibitor", "favorable response of weakness to acetylcholine esterase inhibitors", "favourable response of weakness to acetylcholine esterase inhibitor", "favourable response of weakness to acetylcholine esterase inhibitors" ], "HP:0030203": [ "unfavorable response of muscle weakness to acetylcholine esterase inhibitor", "unfavorable response of muscle weakness to acetylcholine esterase inhibitors", "unfavourable response of muscle weakness to acetylcholine esterase inhibitor", "unfavourable response of muscle weakness to acetylcholine esterase inhibitors" ], "HP:0030205": [ "increase jitter at single fiber emg", "increased jitter at single fiber emg", "increase jitter at single fibre electromyography", "increased jitter at single fibre electromyography", "increase jitter at single fibre emg", "increased jitter at single fibre emg" ], "HP:0030206": [ "emg : incremental response of compound muscle action potential to repetitive nerve stimulation" ], "HP:0030207": [ "paradoxical respiration", "flail chest", "paradoxical breathing" ], "HP:0030208": [ "acetylcholine receptor antibody positivity" ], "HP:0030209": [ "calcium channel antibody positivity", "ca channel antibody positivity", "ca2+ channel antibody positivity" ], "HP:0030210": [ "muscle specific kinase antibody positivity", "anti - musk antibody", "anti - musk antibodies" ], "HP:0030211": [ "slow pupillary light response" ], "HP:0030212": [ "collectionism", "compulsive hoarding" ], "HP:0030213": [ "emotional blunting" ], "HP:0030214": [ "hypersexuality", "sex addiction" ], "HP:0030215": [ "inappropriate cry", "inappropriate crying" ], "HP:0030216": [ "inertia" ], "HP:0030217": [ "limb apraxia" ], "HP:0030218": [ "punding" ], "HP:0030219": [ "semantic dementia", "trouble remember word", "trouble remembering words" ], "HP:0030220": [ "socially inappropriate behavior", "socially inappropriate behaviour" ], "HP:0030221": [ "sweet crave", "sweet craving" ], "HP:0030222": [ "visual agnosia" ], "HP:0030223": [ "perseveration", "perseverative behavior", "perseverative behaviour" ], "HP:0030224": [ "abnormal muscle fiber desmin", "abnormal muscle fibre desmin" ], "HP:0030225": [ "accumulation of muscle fiber desmin", "accumulation of muscle fibre desmin", "muscle fiber desmin - reactive inclusion body", "muscle fiber desmin - reactive inclusion bodies", "muscle fibre desmin - reactive inclusion body", "muscle fibre desmin - reactive inclusion bodies" ], "HP:0030226": [ "abnormal muscle fiber myotilin", "abnormal muscle fibre myotilin" ], "HP:0030227": [ "accumulation of muscle fiber myotilin", "accumulation of muscle fibre myotilin" ], "HP:0030228": [ "abnormal muscle fiber valosin - containing protein", "abnormal muscle fibre valosin - containing protein" ], "HP:0030229": [ "accumulation of muscle fiber valosin - containing protein", "accumulation of muscle fibre valosin - containing protein" ], "HP:0030230": [ "central core region in muscle fiber", "central core regions in muscle fibers", "central core region in muscle fibre", "central core regions in muscle fibres" ], "HP:0030231": [ "glycogen accumulation in muscle fiber lysosome", "glycogen accumulation in muscle fiber lysosomes", "glycogen accumulation in muscle fibre lysosome", "glycogen accumulation in muscle fibre lysosomes" ], "HP:0030232": [ "increase sarcoplasmic glycogen", "increased sarcoplasmic glycogen" ], "HP:0030233": [ "bethlem sign", "bethlem phenomenon" ], "HP:0030234": [ "highly elevate creatine kinase", "highly elevated creatine kinase", "highly elevate cpk", "highly elevated cpk", "highly elevate creatine phosphokinase", "highly elevated creatine phosphokinase", "highly elevate serum ck", "highly elevated serum ck", "highly elevate serum cpk", "highly elevated serum cpk", "highly elevate serum phosph - ck", "highly elevated serum phosph - ck" ], "HP:0030235": [ "extremely elevated creatine kinase", "extremely elevate cpk", "extremely elevated cpk", "extremely elevated creatine phosphokinase", "extremely elevate phospho - ck serum level", "extremely elevated phospho - ck serum level", "extremely elevated serum ck level", "extremely high cpk level" ], "HP:0030236": [ "abnormality of muscle size" ], "HP:0030237": [ "hand muscle weakness" ], "HP:0030239": [ "hypoplasia of the upper arm musculature", "underdeveloped upper arm muscle", "underdeveloped upper arm muscles" ], "HP:0030241": [ "obsolete hypoplasia of deltoid muscle", "hypoplasia of deltoid muscle", "deltoid muscle hypoplasia" ], "HP:0009039": [ "hypoplasia of deltoid muscle", "deltoid muscle hypoplasia" ], "HP:0030242": [ "portal vein thrombosis", "blood clot in portal vein" ], "HP:0030243": [ "hepatic vein thrombosis", "blood clot in liver vein", "hepatic venous thrombosis" ], "HP:0030244": [ "maternal fever in pregnancy", "maternal fever during pregnancy" ], "HP:0030245": [ "intrapartum fever", "maternal fever during labor", "maternal fever during labour" ], "HP:0030246": [ "maternal first trimester fever" ], "HP:0030247": [ "splanchnic vein thrombosis", "blood clot in splanchnic vein" ], "HP:0030248": [ "mesenteric venous thrombosis", "blood clot in mesentertic vein" ], "HP:0030249": [ "enanthema" ], "HP:0030250": [ "pulmonary granulomatosis" ], "HP:0030251": [ "absence of memory b cell", "absence of memory b cells" ], "HP:0030252": [ "absent circulate b cell", "absent circulating b cells", "absence of mature b cell", "absence of mature b cells" ], "HP:0030253": [ "defective t cell proliferation" ], "HP:0030254": [ "nail bed hemorrhage", "nail bed haemorrhage" ], "HP:0030255": [ "large intestinal polyposis" ], "HP:0030256": [ "small intestinal polyposis" ], "HP:0030257": [ "freckle genitalia", "freckled genitalia", "genitalia , ephelides" ], "HP:0030258": [ "hyperpigmented genitalia", "increase genital pigmentation", "increased genital pigmentation", "penile melanosis" ], "HP:0030259": [ "hypopigmented genitalia", "decrease genital pigmentation", "decreased genital pigmentation" ], "HP:0030260": [ "microphallus" ], "HP:0030261": [ "absent penis", "aphallia", "aplasia of the penis", "penis aplasia", "obsolete aplasia of the penis" ], "HP:0040316": [ "absent penis", "aphallia", "aplasia of the penis", "penis aplasia", "obsolete aplasia of the penis" ], "HP:0030262": [ "narrow penis" ], "HP:0030263": [ "torsion of the penis" ], "HP:0030264": [ "web penis", "webbed penis" ], "HP:0030265": [ "wide penis" ], "HP:0030267": [ "calcification of the interosseus membrane of the forearm" ], "HP:0030268": [ "hyperplastic callus formation" ], "HP:0030269": [ "increase serum insulin - like growth factor 1", "increased serum insulin - like growth factor 1", "elevate serum igf1", "elevated serum igf1", "increase serum igf1", "increased serum igf1" ], "HP:0030270": [ "elevate red cell adenosine deaminase level", "elevated red cell adenosine deaminase level" ], "HP:0030271": [ "reduce erythrocyte 2,3 - diphosphoglycerate concentration", "reduced erythrocyte 2,3 - diphosphoglycerate concentration" ], "HP:0030272": [ "abnormal erythrocyte enzyme level" ], "HP:0030273": [ "reduce red cell adenosine deaminase level", "reduced red cell adenosine deaminase level" ], "HP:0030274": [ "accessory scrotum", "extra scrotum" ], "HP:0030275": [ "ectopic scrotum", "abnormal scrotum position" ], "HP:0030276": [ "small scrotum", "underdeveloped scrotum" ], "HP:0030277": [ "abnormal vertebral pedicle morphology" ], "HP:0030278": [ "hypoplastic vertebral pedicle" ], "HP:0030279": [ "hypoplastic l5 vertebral pedicle" ], "HP:0030280": [ "rib gap" ], "HP:0030281": [ "cervical c3 / c4 vertebral fusion" ], "HP:0030282": [ "posterior rib gap", "dorsal rib defect" ], "HP:0030283": [ "partial absence of the septum pellucidum" ], "HP:0030284": [ "triangular tongue", "triangle shape tongue", "triangle shaped tongue" ], "HP:0030285": [ "splay superior cerebellar peduncle", "splayed superior cerebellar peduncle" ], "HP:0030286": [ "atrophic superior cerebellar peduncle" ], "HP:0030289": [ "flatten femoral epiphysis", "flattened femoral epiphysis", "flattended end part of thigh bone" ], "HP:0030290": [ "unossified sacrum", "absence of sacrum ossification" ], "HP:0030291": [ "low - limb metaphyseal irregularity", "lower - limb metaphyseal irregularity" ], "HP:0030292": [ "tibial metaphyseal irregularity" ], "HP:0030293": [ "fibular metaphyseal irregularity", "irregularity of wide portion of calf bone" ], "HP:0030294": [ "metaphyseal chondromatosis of tibia" ], "HP:0030295": [ "metaphyseal chondromatosis of femur" ], "HP:0030296": [ "metaphyseal chondromatosis of radius" ], "HP:0030297": [ "metaphyseal chondromatosis of ulna" ], "HP:0030298": [ "metaphyseal chondromatosis of humerus" ], "HP:0030299": [ "distal femoral metaphyseal abnormality", "abnormality of wide portion of outermost thighbone" ], "HP:0030300": [ "10 pair of rib", "10 pairs of ribs" ], "HP:0030301": [ "abnormality of the anterior commissure" ], "HP:0030302": [ "agenesis of the anterior commissure" ], "HP:0030303": [ "hypoplastic anterior commissure" ], "HP:0030304": [ "abnormal number of vertebra", "abnormal number of vertebrae" ], "HP:0030305": [ "decreased number of vertebra", "decreased number of vertebrae" ], "HP:0030306": [ "11 thoracic vertebra", "11 thoracic vertebrae" ], "HP:0030307": [ "flare low limb metaphysis", "flared lower limb metaphysis", "flared metaphysis of low limb bone", "flared metaphysis of lower limb bone" ], "HP:0030308": [ "flare distal tibial metaphysis", "flared distal tibial metaphysis", "flare outermost metaphysis of shankbone", "flared outermost metaphysis of shankbone", "flare outermost metaphysis of shinbone", "flared outermost metaphysis of shinbone" ], "HP:0030309": [ "flare distal fibular metaphysis", "flared distal fibular metaphysis", "flare outermost wide portion of of calf bone", "flared outermost wide portion of of calf bone" ], "HP:0030310": [ "upper extremity joint dislocation", "dislocate arm joint", "dislocated arm joints" ], "HP:0030311": [ "low extremity joint dislocation", "lower extremity joint dislocation", "dislocate leg joint", "dislocated leg joints" ], "HP:0030312": [ "obliteration of the calvarial diploe", "obliteration of cranial cancellous bone" ], "HP:0030313": [ "abnormal periosteum morphology" ], "HP:0030314": [ "periostosis" ], "HP:0030318": [ "angular cheilitis", "angular cheilosis", "angular stomatitis", "commissural cheilitis", "inflammation of corner of the mouth", "inflammation of corners of the mouth", "inflammation of oral commisures", "red and sore corner of the mouth", "red and sore corners of the mouth" ], "HP:0030319": [ "weakness of facial musculature", "decrease facial muscle strength", "decreased facial muscle strength", "decreased strength of facial muscle", "decreased strength of facial muscles", "face weakness", "facial muscle weakness", "facial weakness", "myasthenia of facial muscle", "myasthenia of facial muscles", "reduce facial muscle strength", "reduced facial muscle strength", "weakness of face" ], "HP:0030320": [ "increase intervertebral space", "increased intervertebral space" ], "HP:0030321": [ "abnormal vertebral artery morphology", "abnormality of the vertebral artery" ], "HP:0030322": [ "vertebral artery hypoplasia" ], "HP:0030323": [ "unilateral vertebral artery hypoplasia" ], "HP:0030324": [ "bilateral vertebral artery hypoplasia" ], "HP:0030325": [ "cervicomedullary schisis" ], "HP:0030326": [ "abnormal macrophage count" ], "HP:0030327": [ "abnormal osteoclast count" ], "HP:0030328": [ "decrease osteoclast count", "decreased osteoclast count" ], "HP:0030329": [ "retinal thinning" ], "HP:0030330": [ "multinucleated giant chondrocytes in epiphyseal cartilage" ], "HP:0030331": [ "impaired stimulus - induced skin wrinkling" ], "HP:0030333": [ "abnormal alpha - beta t cell morphology" ], "HP:0030334": [ "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell morphology" ], "HP:0030335": [ "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell count" ], "HP:0030336": [ "absence of cd4 - positive , cd25 - positive regulatory t cell", "absence of cd4 - positive , cd25 - positive regulatory t cells", "absence of cd4+cd25+ t regulatory cell", "absence of cd4+cd25+ t regulatory cells", "absence of cd4+cd25+ tregs" ], "HP:0030337": [ "elevate cd4 - positive , cd25 - positive regulatory t cell count", "elevated cd4 - positive , cd25 - positive regulatory t cell count" ], "HP:0030338": [ "abnormal circulate gonadotropin concentration", "abnormal circulating gonadotropin concentration", "abnormal circulate gonadotropin level", "abnormal circulating gonadotropin level" ], "HP:0030339": [ "decrease circulate gonadotropin concentration", "decreased circulating gonadotropin concentration", "decrease circulate gonadotropin level", "decreased circulating gonadotropin level" ], "HP:0030341": [ "decrease circulate follicle stimulate hormone concentration", "decreased circulating follicle stimulating hormone concentration", "decrease circulate follicle stimulate hormone level", "decreased circulating follicle stimulating hormone level" ], "HP:0030344": [ "decrease circulate luteinizing hormone level", "decreased circulating luteinizing hormone level", "decrease circulate luteinising hormone level", "decreased circulating luteinising hormone level" ], "HP:0030345": [ "abnormal circulate luteinizing hormone concentration", "abnormal circulating luteinizing hormone concentration", "abnormal circulate luteinizing hormone level", "abnormal circulating luteinizing hormone level", "abnormal luteinizing hormone level", "increase circulating lutropin", "increased circulating lutropin" ], "HP:0030346": [ "abnormal circulate follicle - stimulate hormone concentration", "abnormal circulating follicle - stimulating hormone concentration", "abnormal circulate follicle - stimulate hormone level", "abnormal circulating follicle - stimulating hormone level" ], "HP:0030347": [ "abnormal circulate androgen level", "abnormal circulating androgen level" ], "HP:0030348": [ "increase circulate androgen concentration", "increased circulating androgen concentration", "increase circulate androgen level", "increased circulating androgen level" ], "HP:0030349": [ "decrease circulate androgen concentration", "decreased circulating androgen concentration", "decrease circulate androgen level", "decreased circulating androgen level" ], "HP:0030350": [ "erythematous papule", "red - blue papule" ], "HP:0030351": [ "urticarial plaque" ], "HP:0030352": [ "abnormal serum insulin - like growth factor 1 level" ], "HP:0030353": [ "decrease serum insulin - like growth factor 1", "decreased serum insulin - like growth factor 1" ], "HP:0030354": [ "abnormal serum interferon level" ], "HP:0030355": [ "abnormal serum interferon - gamma level" ], "HP:0030356": [ "increase serum interferon - gamma level", "increased serum interferon - gamma level" ], "HP:0030357": [ "small cell lung carcinoma", "oat cell carcinoma of lung", "oat cell lung cancer", "small cell lung cancer" ], "HP:0030358": [ "non - small cell lung carcinoma", "non - small cell lung cancer" ], "HP:0030359": [ "squamous cell lung carcinoma" ], "HP:0030360": [ "large cell lung carcinoma" ], "HP:0030361": [ "abnormal circulate eicosanoid concentration", "abnormal circulating eicosanoid concentration", "abnormality of icosanoid metabolism" ], "HP:0030362": [ "reduce muscle carnitine level", "reduced muscle carnitine level" ], "HP:0030363": [ "primary caesarian section" ], "HP:0030364": [ "secondary caesarian section" ], "HP:0030365": [ "vaginal birth after caesarian" ], "HP:0030366": [ "delivery by odon device" ], "HP:0030367": [ "finger hyperphalangy" ], "HP:0030368": [ "hyperphalangy of the 2nd finger", "hyperphalangy of index finger" ], "HP:0030369": [ "induced vaginal delivery" ], "HP:0030370": [ "abnormal proportion of naive b cell", "abnormal proportion of naive b cells" ], "HP:0030371": [ "increase proportion of naive b cell", "increased proportion of naive b cells" ], "HP:0030372": [ "decreased proportion of naive b cell", "decreased proportion of naive b cells" ], "HP:0030373": [ "abnormal proportion of memory b cell", "abnormal proportion of memory b cells" ], "HP:0030374": [ "decreased proportion of memory b cell", "decreased proportion of memory b cells" ], "HP:0030375": [ "increase proportion of memory b cell", "increased proportion of memory b cells" ], "HP:0030376": [ "abnormal proportion of immature b cell", "abnormal proportion of immature b cells", "abnormal proportion of cd19+ / cd21low b cell", "abnormal proportion of cd19+ / cd21low b cells" ], "HP:0030377": [ "increase proportion of immature b cell", "increased proportion of immature b cells", "increase proportion of cd19+ / cd21low b cell", "increased proportion of cd19+ / cd21low b cells" ], "HP:0030378": [ "decreased proportion of immature b cell", "decreased proportion of immature b cells", "decreased proportion of cd19+ / cd21low b cell", "decreased proportion of cd19+ / cd21low b cells" ], "HP:0030379": [ "abnormal proportion of transitional b cell", "abnormal proportion of transitional b cells", "abnormal proportion of cd19+cd38+igm+ cell", "abnormal proportion of cd19+cd38+igm+ cells" ], "HP:0030380": [ "decreased proportion of transitional b cell", "decreased proportion of transitional b cells", "decreased proportion of cd19+cd38+igm+ cell", "decreased proportion of cd19+cd38+igm+ cells" ], "HP:0030381": [ "increase proportion of transitional b cell", "increased proportion of transitional b cells", "increase proportion of cd19+cd38+igm+ cell", "increased proportion of cd19+cd38+igm+ cells" ], "HP:0030383": [ "abnormal proportion of marginal zone b cell", "abnormal proportion of marginal zone b cells" ], "HP:0030384": [ "decreased proportion of marginal zone b cell", "decreased proportion of marginal zone b cells" ], "HP:0030385": [ "increase proportion of marginal zone b cell", "increased proportion of marginal zone b cells" ], "HP:0030386": [ "abnormal proportion of class - switched memory b cell", "abnormal proportion of class - switched memory b cells", "abnormal proportion of cd19+cd27+igd - cell", "abnormal proportion of cd19+cd27+igd - cells" ], "HP:0030387": [ "increase proportion of class - switched memory b cell", "increased proportion of class - switched memory b cells", "increase proportion of cd19+cd27+igd - cell", "increased proportion of cd19+cd27+igd - cells" ], "HP:0030388": [ "decreased proportion of class - switched memory b cell", "decreased proportion of class - switched memory b cells", "decreased proportion of cd19+cd27+igd - cell", "decreased proportion of cd19+cd27+igd - cells" ], "HP:0030389": [ "abnormal circulate thromboxane concentration", "abnormal circulating thromboxane concentration" ], "HP:0030390": [ "reduce circulate leukotriene c4 concentration", "reduced circulating leukotriene c4 concentration" ], "HP:0030391": [ "speak word recognition deficit", "spoken word recognition deficit" ], "HP:0030392": [ "choroid plexus carcinoma" ], "HP:0030393": [ "endolymphatic sac tumor", "aggressive papillary middle ear tumor", "aggressive papillary middle ear tumour", "endolymphatic sac tumour", "heffner tumor", "heffner tumour", "low - grade adenocarcinoma of endolymphatic sac origin" ], "HP:0030394": [ "fallopian tube carcinoma" ], "HP:0030396": [ "abnormal platelet granule secretion" ], "HP:0030397": [ "abnormal platelet dense granule secretion" ], "HP:0030398": [ "abnormal platelet atp dense granule secretion" ], "HP:0030399": [ "abnormal platelet alpha granule secretion" ], "HP:0030400": [ "abnormal platelet lysosome secretion" ], "HP:0030401": [ "abnormal platelet dense granule atp / adp ratio" ], "HP:0030402": [ "abnormal platelet aggregation" ], "HP:0030403": [ "spontaneous platelet aggregation" ], "HP:0030404": [ "glucagonoma" ], "HP:0030405": [ "pancreatic endocrine tumor", "pancreatic endocrine tumour" ], "HP:0030406": [ "primary peritoneal carcinoma" ], "HP:0030407": [ "pineocytoma" ], "HP:0030408": [ "pineoblastoma", "pinealoblastoma", "obsolete pinealoblastoma" ], "HP:0040193": [ "pineoblastoma", "pinealoblastoma", "obsolete pinealoblastoma" ], "HP:0030409": [ "renal transitional cell carcinoma", "renal tcc", "renal urothelial carcinoma", "transitional renal cell carcinoma" ], "HP:0030410": [ "sebaceous gland carcinoma", "sebaceous carcinoma" ], "HP:0030411": [ "jejunal adenocarcinoma" ], "HP:0030412": [ "ileal adenocarcinoma" ], "HP:0030413": [ "squamous cell carcinoma of the tongue" ], "HP:0030414": [ "verrucous cell carcinoma of the tongue" ], "HP:0030415": [ "sarcomatoid carcinoma of the tongue", "spindle cell carcinoma of the tongue" ], "HP:0030416": [ "vulvar neoplasm", "neoplasm of the vulva", "tumor of the vulva", "tumour of the vulva" ], "HP:0030417": [ "squamous cell carcinoma of the vulva", "vulval squamous cell carcinoma" ], "HP:0030418": [ "vulvar melanoma" ], "HP:0030419": [ "bartholin gland carcinoma" ], "HP:0030420": [ "vulvar adenocarcinoma" ], "HP:0030421": [ "epididymal neoplasm" ], "HP:0030423": [ "splenic cyst", "cyst on spleen" ], "HP:0030424": [ "epididymal cyst", "epididymal cysts" ], "HP:0030425": [ "calcified ovarian cyst" ], "HP:0030426": [ "ossify fibroma", "ossifying fibroma" ], "HP:0030427": [ "ossify fibroma of the jaw", "ossifying fibroma of the jaw" ], "HP:0030428": [ "cutaneous myxoma" ], "HP:0030429": [ "juvenile nasopharyngeal angiofibroma" ], "HP:0030430": [ "neuroma", "nerve tumor", "nerve tumour", "pinch nerve", "pinched nerve" ], "HP:0030431": [ "osteochondroma", "osteocartilaginous exostosis", "osteocartilaginous exostoses", "osteochondromas" ], "HP:0030432": [ "chondroblastoma" ], "HP:0030433": [ "osteoid osteoma" ], "HP:0030434": [ "pilomatrixoma" ], "HP:0030436": [ "fibrofolliculoma", "fibrofolliculomas" ], "HP:0030437": [ "anal canal neoplasm", "anal canal tumor", "anal canal tumour" ], "HP:0030438": [ "anal canal squamous cell carcinoma" ], "HP:0030439": [ "anal canal adenocarcinoma" ], "HP:0030440": [ "anal margin neoplasm" ], "HP:0030441": [ "anal margin paget 's disease" ], "HP:0030442": [ "anal margin squamous cell carcinoma" ], "HP:0030443": [ "anal margin basal cell carcinoma" ], "HP:0030444": [ "anal margin melanoma" ], "HP:0030445": [ "pulmonary carcinoid tumor", "lung carcinoid tumor", "lung carcinoid tumour", "pulmonary carcinoid tumour" ], "HP:0030446": [ "atypical pulmonary carcinoid tumor", "atypical pulmonary carcinoid tumour" ], "HP:0030447": [ "merkel cell skin cancer", "anaplastic carcinoma of the skin", "cutaneous apudoma", "merkel cell cancer of the skin", "neuroendocrine carcinoma of the skin", "neuroendocrine tumor of the skin", "neuroendocrine tumour of the skin", "primary small cell carcinoma of the skin", "primary undifferentiated carcinoma of the skin" ], "HP:0030448": [ "soft tissue sarcoma", "soft tissue sarcomas" ], "HP:0030449": [ "therapeutic abortion" ], "HP:0030450": [ "neuroplasm of the autonomic nervous system" ], "HP:0030451": [ "mesenteric cyst" ], "HP:0030452": [ "chylolymphatic mesenteric cyst" ], "HP:0030453": [ "abnormal visual electrophysiology" ], "HP:0030454": [ "abnormal electrooculogram", "abnormal eog" ], "HP:0030455": [ "abnormality of pattern visual evoke potential", "abnormality of pattern visual evoked potentials" ], "HP:0030456": [ "abnormality of pattern onset / offset visual evoked potential", "abnormality of pattern onset / offset visual evoked potentials", "abnormality of pattern onset / offset vep" ], "HP:0030457": [ "abnormal amplitude of pattern onset / offset visual evoked potential", "abnormal amplitude of pattern onset / offset visual evoked potentials", "abnormal amplitude of pattern onset / offset vep" ], "HP:0030458": [ "abnormal timing of pattern onset / offset visual evoked potential", "abnormal timing of pattern onset / offset visual evoked potentials" ], "HP:0030460": [ "abnormal timing of pattern reversal visual evoke potential", "abnormal timing of pattern reversal visual evoked potentials" ], "HP:0030461": [ "abnormal timing of flash visual evoke potential", "abnormal timing of flash visual evoked potentials" ], "HP:0030462": [ "abnormal amplitude of flash visual evoke potential", "abnormal amplitude of flash visual evoked potentials" ], "HP:0030463": [ "asymmetrical distribution of flash visual evoke potential", "asymmetrical distribution of flash visual evoked potentials", "crossed asymmetry of flash visual evoke potential", "crossed asymmetry of flash visual evoked potentials" ], "HP:0030464": [ "asymmetrical distribution of pattern reversal visual evoke potential", "asymmetrical distribution of pattern reversal visual evoked potentials", "crossed asymmetry of pattern reversal visual evoke potential", "crossed asymmetry of pattern reversal visual evoked potentials" ], "HP:0030465": [ "undetectable light - adapt electroretinogram", "undetectable light - adapted electroretinogram", "absent photopic ( cone ) responses on erg", "non - detectable photopic erg" ], "HP:0030466": [ "abnormal full - field electroretinogram" ], "HP:0030467": [ "abnormal pattern electroretinogram" ], "HP:0030468": [ "abnormal multifocal electroretinogram" ], "HP:0030469": [ "abnormal dark - adapt electroretinogram", "abnormal dark - adapted electroretinogram" ], "HP:0030470": [ "abnormal dark - adapted bright flash electroretinogram" ], "HP:0030471": [ "abnormal dark - adapt dim flash electroretinogram", "abnormal dark - adapted dim flash electroretinogram" ], "HP:0030472": [ "abnormal light - adapt single flash electroretinogram", "abnormal light - adapted single flash electroretinogram" ], "HP:0030473": [ "abnormal light - adapt flicker electroretinogram", "abnormal light - adapted flicker electroretinogram", "abnormal light - adapt 30hz flicker electroretinogram", "abnormal light - adapted 30hz flicker electroretinogram", "abnormal light - adapt 30hz flicker erg", "abnormal light - adapted 30hz flicker erg", "abnormal light - adapt flicker erg", "abnormal light - adapted flicker erg" ], "HP:0030474": [ "undetectable dark - adapt electroretinogram", "undetectable dark - adapted electroretinogram" ], "HP:0030475": [ "abnormal timing of dark - adapted dim flash electroretinogram" ], "HP:0030476": [ "abnormal amplitude of dark - adapted dim flash electroretinogram" ], "HP:0030477": [ "abnormal timing of dark - adapted bright flash electroretinogram" ], "HP:0030478": [ "abnormal amplitude of dark - adapted bright flash electroretinogram" ], "HP:0030479": [ "abnormal amplitude of light - adapt flicker electroretinogram", "abnormal amplitude of light - adapted flicker electroretinogram" ], "HP:0030480": [ "abnormal timing of light - adapt flicker electroretinogram", "abnormal timing of light - adapted flicker electroretinogram" ], "HP:0030481": [ "abnormal amplitude of light - adapt single flash electroretinogram", "abnormal amplitude of light - adapted single flash electroretinogram" ], "HP:0030482": [ "abnormal timing of light - adapt single flash electroretinogram", "abnormal timing of light - adapted single flash electroretinogram" ], "HP:0030483": [ "reduce amplitude of dark - adapted bright flash electroretinogram a - wave", "reduced amplitude of dark - adapted bright flash electroretinogram a - wave" ], "HP:0030484": [ "supernormal dark - adapted bright flash electroretinogram b - wave" ], "HP:0030485": [ "abnormal amplitude of pattern electroretinogram" ], "HP:0030486": [ "abnormal timing of pattern electroretinogram" ], "HP:0030487": [ "abnormal p50 / n95 ratio of pattern electroretinogram" ], "HP:0030488": [ "abnormal central response of multifocal electroretinogram" ], "HP:0030489": [ "abnormal paracentral response of multifocal electroretinogram" ], "HP:0030490": [ "exudative vitreoretinopathy" ], "HP:0030491": [ "choriocapillaris atrophy" ], "HP:0030493": [ "abnormality of foveal pigmentation" ], "HP:0030494": [ "macular microaneurysm / hemorrhage" ], "HP:0030495": [ "abnormality morphology of the macular vasculature", "abnormality of macular vasculature" ], "HP:0030496": [ "macular exudate", "macular exudates", "macular exudation" ], "HP:0030497": [ "macular cotton wool spot" ], "HP:0030498": [ "macular thickening" ], "HP:0030499": [ "macular drusen", "lipid accumulation in macula" ], "HP:0030500": [ "yellow / white lesion of the macula", "yellow / white lesions of the macula" ], "HP:0030501": [ "macular crystal", "macular crystals" ], "HP:0030502": [ "retinoschisis" ], "HP:0030503": [ "macular telangiectasia", "juxtafoveal telangiectasia", "parafoveal telangiectasia" ], "HP:0030504": [ "group congenital hypertrophy of retinal pigment epithelium", "grouped congenital hypertrophy of retinal pigment epithelium", "bear track congenital hypertrophy of retinal pigment epithelium" ], "HP:0030505": [ "nummular pigmentation of the fundus", "nummular pigmentation of the retina" ], "HP:0030506": [ "yellow / white lesion of the retina", "yellow / white lesions of the retina" ], "HP:0030507": [ "retinal crystal", "retinal crystals" ], "HP:0030508": [ "retinal cavernous hemangioma", "retinal cavernous haemangioma" ], "HP:0030509": [ "retinal racemose hemangioma", "retinal racemose haemangioma" ], "HP:0030510": [ "combine hamartoma of the retinal pigment epithelium and retina", "combined hamartoma of the retinal pigment epithelium and retina" ], "HP:0030511": [ "bradyopsia", "difficulty see move object", "difficulty seeing moving objects" ], "HP:0030512": [ "difficulty adjust to change in luminance", "difficulty adjusting to changes in luminance" ], "HP:0030513": [ "difficulty adjust from light to dark", "difficulty adjusting from light to dark" ], "HP:0030514": [ "difficulty adjust from dark to light", "difficulty adjusting from dark to light" ], "HP:0030515": [ "moderately reduce visual acuity", "moderately reduced visual acuity", "moderate reduction in visual acuity", "moderate vision loss", "moderate visual impairment", "moderate visual loss" ], "HP:0030516": [ "homonymous hemianopia", "homonymous hemianopsia" ], "HP:0030517": [ "heteronymous hemianopia", "heteronymous hemianopsia" ], "HP:0030518": [ "congruous homonymous hemianopia", "congruous hemianopsia" ], "HP:0030519": [ "congruous heteronymous hemianopia" ], "HP:0030520": [ "binasal hemianopia" ], "HP:0030521": [ "bitemporal hemianopia" ], "HP:0030522": [ "mild constriction of peripheral visual field", "mild peripheral visual field loss" ], "HP:0030523": [ "obsolete peripheral visual field constriction with 40 - 50 degree central field preserve", "obsolete peripheral visual field constriction with 40 - 50 degrees central field preserved", "moderate constriction of peripheral visual field", "moderate peripheral visual field loss" ], "HP:0030524": [ "obsolete peripheral visual field constriction with 30 - 39 degree central field preserve", "obsolete peripheral visual field constriction with 30 - 39 degrees central field preserved", "obsolete peripheral visual field constriction with 40 - 50 degree central field preserve", "obsolete peripheral visual field constriction with 40 - 50 degrees central field preserved", "moderate constriction of peripheral visual field", "moderate peripheral visual field loss" ], "HP:0030525": [ "obsolete peripheral visual field constriction with 30 - 39 degree central field preserve", "obsolete peripheral visual field constriction with 30 - 39 degrees central field preserved", "obsolete peripheral visual field constriction with 40 - 50 degree central field preserve", "obsolete peripheral visual field constriction with 40 - 50 degrees central field preserved", "moderate constriction of peripheral visual field", "moderate peripheral visual field loss" ], "HP:0030526": [ "severe constriction of peripheral visual field", "severe peripheral visual field loss" ], "HP:0030527": [ "very severe constriction of peripheral visual field", "very severe peripheral visual field loss" ], "HP:0030528": [ "paracentral scotoma" ], "HP:0030529": [ "ring scotoma" ], "HP:0030530": [ "arcuate scotoma", "arc - shape blind spot", "arc - shaped blind spot" ], "HP:0030531": [ "altitudinal visual field defect" ], "HP:0030532": [ "visual acuity test abnormality" ], "HP:0030533": [ "abnormal unaided visual acuity test" ], "HP:0030534": [ "abnormal best correct visual acuity test", "abnormal best corrected visual acuity test" ], "HP:0030535": [ "abnormal pinhole visual acuity test" ], "HP:0030536": [ "unaided visual acuity 0.1 logmar" ], "HP:0030537": [ "unaided visual acuity 0.2 logmar" ], "HP:0030538": [ "unaided visual acuity 0.3 logmar" ], "HP:0030539": [ "unaided visual acuity 0.4 logmar" ], "HP:0030540": [ "unaided visual acuity 0.5 logmar" ], "HP:0030541": [ "unaided visual acuity 0.6 logmar" ], "HP:0030542": [ "unaided visual acuity 0.7 logmar" ], "HP:0030543": [ "unaided visual acuity 0.8 logmar" ], "HP:0030544": [ "unaided visual acuity 0.9 logmar" ], "HP:0030545": [ "unaided visual acuity 1.0 logmar" ], "HP:0030546": [ "unaided visual acuity 1.1 logmar" ], "HP:0030547": [ "unaided visual acuity 1.2 logmar" ], "HP:0030548": [ "unaided visual acuity 1.3 logmar" ], "HP:0030549": [ "unaided visual acuity 2.0 logmar" ], "HP:0030550": [ "unaided visual acuity 3.0 logmar" ], "HP:0030551": [ "visual acuity light perception with projection" ], "HP:0030552": [ "visual acuity light perception without projection" ], "HP:0030553": [ "visual acuity no light perception" ], "HP:0030554": [ "best correct visual acuity 0.1 logmar", "best corrected visual acuity 0.1 logmar" ], "HP:0030555": [ "best correct visual acuity 0.2 logmar", "best corrected visual acuity 0.2 logmar" ], "HP:0030556": [ "best correct visual acuity 0.3 logmar", "best corrected visual acuity 0.3 logmar" ], "HP:0030557": [ "best correct visual acuity 0.4 logmar", "best corrected visual acuity 0.4 logmar" ], "HP:0030558": [ "best correct visual acuity 0.5 logmar", "best corrected visual acuity 0.5 logmar" ], "HP:0030559": [ "best correct visual acuity 0.7 logmar", "best corrected visual acuity 0.7 logmar" ], "HP:0030560": [ "best correct visual acuity 0.6 logmar", "best corrected visual acuity 0.6 logmar" ], "HP:0030561": [ "best correct visual acuity 0.8 logmar", "best corrected visual acuity 0.8 logmar" ], "HP:0030562": [ "best correct visual acuity 0.9 logmar", "best corrected visual acuity 0.9 logmar" ], "HP:0030563": [ "best correct visual acuity 1.0 logmar", "best corrected visual acuity 1.0 logmar" ], "HP:0030564": [ "best correct visual acuity 1.1 logmar", "best corrected visual acuity 1.1 logmar" ], "HP:0030565": [ "best correct visual acuity 1.2 logmar", "best corrected visual acuity 1.2 logmar" ], "HP:0030566": [ "best correct visual acuity 1.3 logmar", "best corrected visual acuity 1.3 logmar" ], "HP:0030567": [ "best correct visual acuity 2.0 logmar", "best corrected visual acuity 2.0 logmar" ], "HP:0030568": [ "best correct visual acuity 3.0 logmar", "best corrected visual acuity 3.0 logmar" ], "HP:0030569": [ "pinhole visual acuity 0.1 logmar" ], "HP:0030570": [ "pinhole visual acuity 0.2 logmar" ], "HP:0030571": [ "pinhole visual acuity 0.3 logmar" ], "HP:0030572": [ "pinhole visual acuity 0.4 logmar" ], "HP:0030573": [ "pinhole visual acuity 0.5 logmar" ], "HP:0030574": [ "pinhole visual acuity 0.6 logmar" ], "HP:0030575": [ "pinhole visual acuity 0.7 logmar" ], "HP:0030576": [ "pinhole visual acuity 0.8 logmar" ], "HP:0030577": [ "pinhole visual acuity 0.9 logmar" ], "HP:0030578": [ "pinhole visual acuity 1.0 logmar" ], "HP:0030579": [ "pinhole visual acuity 1.1 logmar" ], "HP:0030580": [ "pinhole visual acuity 1.2 logmar" ], "HP:0030581": [ "pinhole visual acuity 1.3 logmar" ], "HP:0030582": [ "pinhole visual acuity 2.0 logmar" ], "HP:0030583": [ "pinhole visual acuity 3.0 logmar" ], "HP:0030584": [ "color vision test abnormality", "colour vision test abnormality" ], "HP:0030585": [ "red desaturation" ], "HP:0030586": [ "abnormal ishihara plate test" ], "HP:0030587": [ "abnormal hardy - rand - rittler plate test" ], "HP:0030588": [ "abnormal visual field test" ], "HP:0030589": [ "abnormal confrontational visual field test" ], "HP:0030590": [ "abnormal amsler grid test" ], "HP:0030591": [ "abnormal kinetic perimetry test" ], "HP:0030592": [ "abnormal static perimetry test" ], "HP:0030593": [ "abnormal manual kinetic perimetry test" ], "HP:0030594": [ "abnormal automate kinetic perimetry test", "abnormal automated kinetic perimetry test" ], "HP:0030595": [ "abnormal static automate perimetry test", "abnormal static automated perimetry test" ], "HP:0030596": [ "abnormal humphrey sita 30 - 2 perimetry test" ], "HP:0030597": [ "abnormal humphrey sita 24 - 2 perimetry test" ], "HP:0030598": [ "abnormal humphrey sita 10 - 2 perimetry test" ], "HP:0030599": [ "abnormal estermann grid perimetry test" ], "HP:0030601": [ "abnormal posterior segment imaging" ], "HP:0030602": [ "abnormal fundus autofluorescence imaging" ], "HP:0030603": [ "abnormal optical coherence tomography" ], "HP:0030604": [ "abnormal fundus fluorescein angiography" ], "HP:0030605": [ "abnormal indocyanine green angiography" ], "HP:0030606": [ "abnormal oct - measure macular thickness", "abnormal oct - measured macular thickness" ], "HP:0030607": [ "reduce oct - measure macular thickness", "reduced oct - measured macular thickness" ], "HP:0030608": [ "increase oct - measure macular thickness", "increased oct - measured macular thickness" ], "HP:0030609": [ "photoreceptor layer loss on macular oct" ], "HP:0030610": [ "photoreceptor outer segment loss on macular oct" ], "HP:0030611": [ "retinal pigment epithelial loss on macular oct" ], "HP:0030612": [ "abnormal retinal morphology on macular oct" ], "HP:0030613": [ "abnormal foveal morphology on macular oct" ], "HP:0030614": [ "foveal photoreceptor layer loss on macular oct" ], "HP:0030615": [ "foveal photoreceptor outer segment loss on macular oct" ], "HP:0030616": [ "foveal retinal pigment epithelial loss on macular oct" ], "HP:0030617": [ "abnormal oct - measure foveal thickness", "abnormal oct - measured foveal thickness" ], "HP:0030618": [ "increase oct - measure foveal thickness", "increased oct - measured foveal thickness" ], "HP:0030619": [ "reduce oct - measure foveal thickness", "reduced oct - measured foveal thickness" ], "HP:0030620": [ "inner retinal layer loss on macular oct" ], "HP:0030621": [ "foveal inner retinal layer loss on macular oct" ], "HP:0030622": [ "abnormal foveal pit on macular oct" ], "HP:0030623": [ "intraretinal hyporeflective space on macular oct", "intraretinal hyporeflective spaces on macular oct" ], "HP:0030624": [ "subretinal hyporeflective space on macular oct", "subretinal hyporeflective spaces on macular oct" ], "HP:0030625": [ "hyporeflective space on macular oct", "hyporeflective spaces on macular oct" ], "HP:0030626": [ "foveal intraretinal hyporeflective space on macular oct", "foveal intraretinal hyporeflective spaces on macular oct" ], "HP:0030627": [ "foveal hyporeflective space on macular oct", "foveal hyporeflective spaces on macular oct" ], "HP:0030628": [ "foveal subretinal hyporeflective space on macular oct", "foveal subretinal hyporeflective spaces on macular oct" ], "HP:0030629": [ "perifoveal ring of hyperautofluorescence" ], "HP:0030630": [ "irregular central macular autofluorescence" ], "HP:0030631": [ "hyperautofluorescent macular lesion" ], "HP:0030632": [ "hypoautofluorescent macular lesion", "hypo - autofluorescent macular lesion" ], "HP:0030633": [ "perifoveal ring of hyperautofluorescence surround by normal autofluorescence", "perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence" ], "HP:0030634": [ "perifoveal ring of hyperautofluorescence surround by abnormal autofluorescence", "perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence" ], "HP:0030635": [ "retinal dystrophy with early macular involvement" ], "HP:0030636": [ "occult macular dystrophy" ], "HP:0030637": [ "congenital stationary cone dysfunction", "cone dysfunction", "cone dysfunction syndrome" ], "HP:0030638": [ "congenital stationary night blindness with normal fundus" ], "HP:0030639": [ "congenital stationary night blindness with abnormal fundus" ], "HP:0030640": [ "complete congenital stationary night blindness" ], "HP:0030641": [ "incomplete congenital stationary night blindness" ], "HP:0030642": [ "fundus albipunctatus" ], "HP:0030643": [ "vitelliform - like retinal lesion", "vitelliform - like retinal lesions" ], "HP:0030644": [ "blind - spot enlargment", "blind spot enlargment" ], "HP:0030645": [ "central" ], "HP:0030646": [ "peripheral" ], "HP:0030647": [ "paracentral" ], "HP:0030648": [ "midperipheral", "mid - peripheral" ], "HP:0030649": [ "pericentral" ], "HP:0030650": [ "focal" ], "HP:0030651": [ "multifocal" ], "HP:0030652": [ "vitreous haze" ], "HP:0030654": [ "umbilical cord cyst" ], "HP:0030655": [ "umbilical cord knot" ], "HP:0030656": [ "umbilical vein varix" ], "HP:0030657": [ "umbilical cord hematoma", "umbilical cord haematoma" ], "HP:0030658": [ "marginal umbilical cord insertion", "marginal cord insertion" ], "HP:0030659": [ "velamentous cord insertion" ], "HP:0030660": [ "furcate cord insertion" ], "HP:0030661": [ "vitreous snowball", "vitreous snowballs" ], "HP:0030662": [ "vitreous inflammatory cell", "vitreous inflammatory cells" ], "HP:0030663": [ "optically empty vitreous" ], "HP:0030664": [ "beevor 's sign" ], "HP:0030665": [ "rubral tremor", "holmes ' tremor" ], "HP:0030666": [ "retinal neovascularization", "retinal neovascularisation" ], "HP:0030667": [ "peripheral retinal neovascularization" ], "HP:0030668": [ "periorbital dermoid cyst" ], "HP:0030669": [ "abnormal ocular adnexa morphology" ], "HP:0030670": [ "hamartoma of the orbital region" ], "HP:0030671": [ "abnormal common tendinous ring morphology", "abnormality of the common tendinous ring" ], "HP:0030672": [ "asteroid hyalosis" ], "HP:0030673": [ "erosive vitreoretinopathy" ], "HP:0030674": [ "antenatal onset" ], "HP:0030675": [ "contracture of proximal interphalangeal joint of 2nd - 5th finger", "contracture of proximal interphalangeal joints of 2nd - 5th fingers" ], "HP:0030676": [ "satyr ear", "devil ear" ], "HP:0030677": [ "mozart ear" ], "HP:0030679": [ "ash - leaf spot" ], "HP:0030680": [ "obsolete malformation of the heart and great vessel", "obsolete malformation of the heart and great vessels", "abnormality of cardiovascular system morphology", "cardiovascular malformation", "cardiovascular malformations" ], "HP:0001632": [ "abnormality of cardiovascular system morphology", "cardiovascular malformation", "cardiovascular malformations" ], "HP:0002565": [ "obsolete malformation of the heart and great vessel", "obsolete malformation of the heart and great vessels", "abnormality of cardiovascular system morphology", "cardiovascular malformation", "cardiovascular malformations" ], "HP:0030681": [ "abnormal morphology of myocardial trabecula", "abnormal morphology of myocardial trabeculae" ], "HP:0030682": [ "leave ventricular noncompaction", "left ventricular noncompaction" ], "HP:0030683": [ "vaginitis", "vulvovaginitis" ], "HP:0030684": [ "abnormal adiponectin level" ], "HP:0030685": [ "decrease adiponectin level", "decreased adiponectin level" ], "HP:0030686": [ "increase adiponectin level", "increased adiponectin level" ], "HP:0030687": [ "abnormal glucagon level" ], "HP:0030688": [ "increase glucagon level", "increased glucagon level" ], "HP:0030689": [ "decrease glucagon level", "decreased glucagon level" ], "HP:0030690": [ "gingival cleft" ], "HP:0030691": [ "divergence nystagmus" ], "HP:0030692": [ "brain neoplasm", "brain tumor", "brain tumour" ], "HP:0030693": [ "supratentorial neoplasm", "pineal parenchymal tumor", "pineal parenchymal tumour" ], "HP:0030694": [ "pineal parenchymal cell neoplasm" ], "HP:0030706": [ "ranula", "sublingual cyst", "sublingual ptyalocele" ], "HP:0030707": [ "unilateral lung agenesis", "unilateral pulmonary agenesis" ], "HP:0030708": [ "myeloschisis" ], "HP:0030709": [ "myelocystocele" ], "HP:0030710": [ "lipomeningocele" ], "HP:0030711": [ "hydrocolpos" ], "HP:0030712": [ "uterine synechiae", "asherman syndrome" ], "HP:0030713": [ "vein of galen aneurysmal malformation", "median prosencephalic arteriovenous fistula", "vein of galen aneurysm", "vein of galen malformation" ], "HP:0030714": [ "subchorionic thrombohematoma", "breus ' mole" ], "HP:0030715": [ "bronchial atresia", "congenital bronchial atresia" ], "HP:0030716": [ "acrania" ], "HP:0030717": [ "meconium peritonitis" ], "HP:0030718": [ "right atrial enlargement", "dilate right atrium", "dilated right atrium", "enlarge heart right atrium", "enlarged heart right atrium", "right atrial dilatation" ], "HP:0030719": [ "unguarded tricuspid valve", "rudimentary tricuspid valve leaflet", "rudimentary tricuspid valve leaflets", "unguarded tricuspid valve orifice" ], "HP:0030720": [ "subchorionic septal cyst" ], "HP:0030721": [ "tetraphocomelia" ], "HP:0030722": [ "ectopic liver" ], "HP:0030723": [ "congenital megalourethra" ], "HP:0030724": [ "central nervous system cyst", "cns cyst", "cyst of the central nervous system" ], "HP:0030725": [ "neurenteric cyst" ], "HP:0030726": [ "spinal neurenteric cyst" ], "HP:0030727": [ "intracranial neurenteric cyst" ], "HP:0030728": [ "meromelia" ], "HP:0030729": [ "frontoethmoidal meningocele", "frontoethmoid meningocele" ], "HP:0030730": [ "parietal meningocele" ], "HP:0030731": [ "carcinoma" ], "HP:0030732": [ "dysplastic tricuspid valve", "tricuspid valve dysplasia" ], "HP:0030733": [ "vesicoallantoic abdominal wall defect" ], "HP:0030735": [ "ureterovesical junction obstruction" ], "HP:0030736": [ "sacrococcygeal teratoma" ], "HP:0030737": [ "altman type i sacrococcygeal teratoma" ], "HP:0030738": [ "altman type ii sacrococcygeal teratoma" ], "HP:0030739": [ "altman type iii sacrococcygeal teratoma" ], "HP:0030740": [ "anomalous muscle bundle of the right ventricle", "right ventricular anomalous muscle bundle" ], "HP:0030741": [ "mediastinal teratoma", "teratoma of the mediastinum" ], "HP:0030742": [ "glial remnant posterior to lens", "glial remnants posterior to lens", "mittendorf dot" ], "HP:0030743": [ "glial remnant anterior to the optic disc", "glial remnants anterior to the optic disc", "bergmeister papilla" ], "HP:0030744": [ "hyaloid vascular remnant and retrolental mass" ], "HP:0030745": [ "dilatation of the ductus arteriosus", "congenital ductus arteriosus aneurysm", "ductus arteriosus aneurysm" ], "HP:0030746": [ "intraventricular hemorrhage", "intraventricular haemorrhage" ], "HP:0030747": [ "preterm intraventricular hemorrhage", "preterm intraventricular haemorrhage" ], "HP:0030748": [ "grade i preterm intraventricular hemorrhage", "germinal matrix haemorrhage", "germinal matrix hemorrhage", "grade i preterm intraventricular haemorrhage" ], "HP:0030749": [ "grade ii preterm intraventricular hemorrhage", "grade ii preterm intraventricular haemorrhage" ], "HP:0030750": [ "grade iii preterm intraventricular hemorrhage", "grade iii preterm intraventricular haemorrhage" ], "HP:0030751": [ "grade iv preterm intraventricular hemorrhage", "grade iv preterm intraventricular haemorrhage" ], "HP:0030752": [ "dacryocystocele", "timo cyst" ], "HP:0030753": [ "intrauterine fetal demise of one twin after midgestation", "intrauterine foetal demise of one twin after midgestation", "single - twin demise" ], "HP:0030754": [ "allantoic cyst" ], "HP:0030755": [ "craniofacial teratoma" ], "HP:0030756": [ "erythrodontia", "red teeth" ], "HP:0030757": [ "tooth abscess", "dental abscess", "dentoalveolar abscess" ], "HP:0030758": [ "periapical tooth abscess" ], "HP:0030759": [ "adipocyte hypertrophy", "fat cell hypertrophy" ], "HP:0030760": [ "renal fibrosis", "kidney fibrosis" ], "HP:0030762": [ "mesangiolysis" ], "HP:0030763": [ "amniotic sheet", "amniotic shelf" ], "HP:0030764": [ "ochronosis" ], "HP:0030765": [ "sleep terror", "night terror", "pavor nocturnus", "sleep terrors" ], "HP:0030766": [ "ear pain", "otalgia", "pain in the ear" ], "HP:0030767": [ "epignathus" ], "HP:0030769": [ "exencephaly" ], "HP:0030770": [ "craniorachischisis" ], "HP:0030771": [ "mallet finger" ], "HP:0030772": [ "proximal femoral focal deficiency" ], "HP:0030773": [ "internuclear ophthalmoplegia" ], "HP:0030774": [ "mitochondrial swelling" ], "HP:0030775": [ "modic type vertebral endplate change", "modic type vertebral endplate changes" ], "HP:0030776": [ "modic type i vertebral endplate change", "modic type i vertebral endplate changes", "modic type 1 vertebral endplate change", "modic type 1 vertebral endplate changes" ], "HP:0030777": [ "modic type ii vertebral endplate change", "modic type ii vertebral endplate changes", "modic type 2 vertebral endplate change", "modic type 2 vertebral endplate changes" ], "HP:0030778": [ "modic type iii vertebral endplate change", "modic type iii vertebral endplate changes", "modic type 3 vertebral endplate change", "modic type 3 vertebral endplate changes" ], "HP:0030779": [ "ethmocephaly" ], "HP:0030780": [ "abnormality of the protein c anticoagulant pathway" ], "HP:0030781": [ "increase circulate free fatty acid level", "increased circulating free fatty acid level" ], "HP:0030782": [ "abnormal serum interleukin level", "abnormal serum il level" ], "HP:0030783": [ "increase circulate interleukin 6", "increased circulating interleukin 6", "increase serum il - 6", "increased serum il - 6", "increase serum interleukin - 6", "increased serum interleukin - 6" ], "HP:0030784": [ "anomic aphasia", "amnesic aphasia", "amnestic aphasia", "anomia", "nominal aphasia", "word - finding difficulty" ], "HP:0030785": [ "mediastinal cystic lymphangioma", "intrathoracic cystic hygroma", "thoracic cystic lymphangioma" ], "HP:0030786": [ "photopsia" ], "HP:0030787": [ "cerumen abnormality" ], "HP:0030788": [ "impact cerumen", "impacted cerumen" ], "HP:0030789": [ "excessive cerumen" ], "HP:0030790": [ "abnormal cerumen color", "abnormal cerumen colour", "abnormal cerumen pigmentation" ], "HP:0030791": [ "abnormal jaw morphology" ], "HP:0030792": [ "jaw neoplasm" ], "HP:0030793": [ "jaw swell", "jaw swelling" ], "HP:0030794": [ "abnormal c - peptide level", "abnormal c peptide level" ], "HP:0030795": [ "reduce c - peptide level", "reduced c - peptide level", "reduce c peptide level", "reduced c peptide level" ], "HP:0030796": [ "increase c - peptide level", "increased c - peptide level", "increase c peptide level", "increased c peptide level" ], "HP:0030797": [ "reduced volume of central subdivision of bed nucleus of stria terminalis" ], "HP:0030798": [ "abnormality of the bed nucleus of stria terminalis" ], "HP:0030799": [ "scaphocephaly" ], "HP:0030800": [ "abnormal visual accommodation" ], "HP:0030801": [ "reduce visual accommodation", "reduced visual accommodation" ], "HP:0030802": [ "low eyelid retraction", "lower eyelid retraction" ], "HP:0030803": [ "platonychia" ], "HP:0030804": [ "trachyonychia" ], "HP:0030805": [ "absent lunula", "absent lunulae", "lunula absent", "lunulae absent" ], "HP:0030806": [ "fast - grow nail", "fast - growing nails" ], "HP:0030807": [ "abnormal nail growth" ], "HP:0030808": [ "rag cuticle", "ragged cuticle" ], "HP:0030809": [ "abnormal tongue morphology" ], "HP:0030810": [ "abnormal tongue physiology" ], "HP:0030811": [ "tongue pain", "painful tongue" ], "HP:0030812": [ "enlarge tonsil", "enlarged tonsils", "enlargment of tonsil", "enlargment of tonsils", "tonsillar hypertrophy", "tonsil large / hypertrophy", "tonsils large / hypertrophy" ], "HP:0030813": [ "absent tonsil", "absent tonsils", "hypoplastic tonsil", "hypoplastic tonsils", "tonsillar hypoplasia" ], "HP:0030814": [ "orange discolor tonsil", "orange discolored tonsils", "orange color tonsil", "orange colored tonsils", "orange colour tonsil", "orange coloured tonsils", "orange discolour tonsil", "orange discoloured tonsils", "orange tonsil", "orange tonsils", "tonsil with orange deposit", "tonsils with orange deposits" ], "HP:0030815": [ "lipoma of the tongue", "tongue lipoma" ], "HP:0030816": [ "gingival recession", "gum recession", "recede gum", "receding gums" ], "HP:0030817": [ "beak nail", "beaked nails" ], "HP:0030818": [ "central nail canal", "median nail dystrophy" ], "HP:0030819": [ "ski jump nail", "upslanting nail", "upward angulation of nail" ], "HP:0030820": [ "hood eyelid", "hooded eyelid" ], "HP:0030821": [ "hood low eyelid", "hooded lower eyelid" ], "HP:0030822": [ "hood upper eyelid", "hooded upper eyelid" ], "HP:0030823": [ "scleral thickening", "thick sclera" ], "HP:0030824": [ "mizuo phenomenon", "mizuo - nakamura phenomenon" ], "HP:0030825": [ "absent foveal reflex", "foveal reflex absent", "loss of foveal reflex" ], "HP:0030826": [ "eyelid fasciculation", "eyelid fluttering", "fasciculation of the eyelid", "muscle twitch in eye lid", "muscle twitches in eye lid", "muscle twitch in eyelid", "muscle twitches in eyelid", "twitch around eye", "twitching around eyes" ], "HP:0030828": [ "wheeze", "wheezing" ], "HP:0030829": [ "abnormal breath sound", "abnormal lung auscultation find", "abnormal lung auscultation finding" ], "HP:0030830": [ "crackle", "crackles", "crepitation", "crepitations", "rale", "rales" ], "HP:0030831": [ "rhonchus", "rhonchi" ], "HP:0030832": [ "vitreous strand", "vitreous strands" ], "HP:0030833": [ "neck pain" ], "HP:0030834": [ "shoulder pain" ], "HP:0030835": [ "elbow pain" ], "HP:0030836": [ "wrist pain" ], "HP:0030837": [ "finger pain" ], "HP:0030838": [ "hip pain" ], "HP:0030839": [ "knee pain", "pain under knee cap" ], "HP:0030840": [ "ankle pain" ], "HP:0030841": [ "toe pain" ], "HP:0030842": [ "choke episode", "choking episodes" ], "HP:0030843": [ "cardiac amyloidosis", "amyloid cardiomyopathy", "obsolete amyloid cardiomyopathy" ], "HP:0200126": [ "cardiac amyloidosis", "amyloid cardiomyopathy", "obsolete amyloid cardiomyopathy" ], "HP:0030844": [ "undetectable pattern electroretinogram" ], "HP:0030845": [ "heliotrope rash of eyelid" ], "HP:0030846": [ "abnormality of venous physiology" ], "HP:0030847": [ "abnormal jugular venous pressure" ], "HP:0030848": [ "elevate jugular venous pressure", "elevated jugular venous pressure" ], "HP:0030849": [ "hepatojugular reflux" ], "HP:0030850": [ "abnormal pulse pressure" ], "HP:0030851": [ "low pulse pressure" ], "HP:0030852": [ "high pulse pressure" ], "HP:0030853": [ "heterotaxy", "heterotaxia" ], "HP:0030854": [ "scleral staphyloma", "staphyloma" ], "HP:0030855": [ "anterior staphyloma" ], "HP:0030856": [ "posterior staphyloma" ], "HP:0030857": [ "eye movement - induced pain" ], "HP:0030858": [ "addictive behavior", "addictive behaviour" ], "HP:0030859": [ "anti - topoisomerase i antibody positivity", "top1 antibody positivity", "topoisomerase ( dna ) i antibody positivity" ], "HP:0030860": [ "abnormal csf amyloid level", "abnormal csf a [ beta ] 42 level" ], "HP:0030861": [ "decrease csf amyloid level", "decreased csf amyloid level" ], "HP:0030862": [ "elevate csf amyloid level", "elevated csf amyloid level" ], "HP:0030863": [ "nasal flare", "nasal flaring" ], "HP:0030864": [ "intercostal retraction", "intercostal retractions", "chest retraction", "chest retractions" ], "HP:0030865": [ "large elbow", "prominent elbow" ], "HP:0030866": [ "large knee" ], "HP:0030867": [ "vertical orbital dystopia", "eye at different height", "eyes at different heights", "misalign eye", "misaligned eyes", "unequal eye height" ], "HP:0030868": [ "monorchism", "monorchidism" ], "HP:0030869": [ "anorchism" ], "HP:0030870": [ "abnormality of spinal facet joint", "abnormality of apophyseal joint", "abnormality of z - joint", "abnormality of zygapophyseal joint", "abnormality of zygapophysial joint" ], "HP:0030871": [ "facet joint arthrosis", "facet arthritis" ], "HP:0030872": [ "abnormal cardiac ventricular function" ], "HP:0030873": [ "anti - centromere antibody positivity", "aca positivity", "anticentromere antibody positivity" ], "HP:0030874": [ "oxygen desaturation on exertion", "o2 desaturation on exertion" ], "HP:0030875": [ "abnormality of pulmonary circulation", "abnormal pulmonary circulation", "abnormality of respiratory circulation" ], "HP:0030876": [ "increase pulmonary capillary wedge pressure", "increased pulmonary capillary wedge pressure", "increase pulmonary arterial wedge pressure", "increased pulmonary arterial wedge pressure", "increase pulmonary artery occlusion pressure", "increased pulmonary artery occlusion pressure" ], "HP:0030877": [ "reduce fev1 / fvc ratio", "reduced fev1 / fvc ratio", "obstructive deficit on pulmonary function test", "obstructive deficit on pulmonary function testing" ], "HP:0030878": [ "abnormality on pulmonary function test", "abnormality on pulmonary function testing", "abnormal pulmonary function test", "abnormal spirometry test", "obsolete abnormal spirometry test" ], "HP:0032340": [ "abnormality on pulmonary function test", "abnormality on pulmonary function testing", "abnormal pulmonary function test", "abnormal spirometry test", "obsolete abnormal spirometry test" ], "HP:0030879": [ "interlobular septal thickening", "interlobular line ( pulmonary ct finding )", "interlobular lines ( pulmonary ct finding )", "interlobular septal thicken on pulmonary hrct", "interlobular septal thickening on pulmonary hrct", "peripheral line ( pulmonary ct finding )", "peripheral lines ( pulmonary ct finding )", "septal line ( pulmonary ct finding )", "septal lines ( pulmonary ct finding )", "septal thickening ( pulmonary ct finding )", "short line ( pumonary ct finding )", "short lines ( pumonary ct finding )" ], "HP:0030880": [ "raynaud phenomenon", "raynaud disease", "raynaud 's phenomenon" ], "HP:0030881": [ "shoulder impingement" ], "HP:0030882": [ "coronary artery aneurysm", "coronary arterial dilatation", "coronary artery dilatation", "coronary artery ectasia" ], "HP:0030883": [ "femoroacetabular impingement", "femoral acetabular impingement" ], "HP:0030884": [ "gastrojejunal tube feeding in infancy", "gastro - jejunal tube feeding in infancy" ], "HP:0030885": [ "recurrent parasitic infection", "recurrent parasitic infections" ], "HP:0030886": [ "abnormal lymphocyte apoptosis" ], "HP:0030887": [ "increase lymphocyte apoptosis", "increased lymphocyte apoptosis" ], "HP:0030888": [ "c3 nephritic factor positivity" ], "HP:0030889": [ "congenital shorten small intestine", "congenital shortened small intestine", "short bowel" ], "HP:0030890": [ "hyperintensity of cerebral white matter on mri", "white matter hyperintensity" ], "HP:0030891": [ "periventricular white matter hyperintensities" ], "HP:0030892": [ "deep cerebral white matter hyperintensities" ], "HP:0030893": [ "abnormal response to short act pulmonary vasodilator", "abnormal response to short acting pulmonary vasodilator" ], "HP:0030894": [ "insufficient response to short act pulmonary vasodilator", "insufficient response to short acting pulmonary vasodilator" ], "HP:0030895": [ "abnormal gastrointestinal motility", "abnormal gi motility" ], "HP:0030896": [ "abnormal gastrointestinal transit time", "abnormal gi transit time" ], "HP:0030897": [ "decrease intestinal transit time", "decreased intestinal transit time" ], "HP:0030898": [ "pruritis on abdomen" ], "HP:0030899": [ "pruritis on hand" ], "HP:0030900": [ "pruritus on foot", "itchy foot", "itchy feet" ], "HP:0030901": [ "pruritis on breast" ], "HP:0030902": [ "palmomental reflex" ], "HP:0030903": [ "grasp reflex", "palmar grasp reflex" ], "HP:0030904": [ "glabellar reflex", "myerson 's sign" ], "HP:0030905": [ "snout reflex" ], "HP:0030906": [ "suck reflex", "persistent nutritive suckle swallow" ], "HP:0030907": [ "thunderclap headache" ], "HP:0030908": [ "liver kidney microsome type 1 antibody positivity", "anti - lkm - 1 positive" ], "HP:0030909": [ "anti - liver cytosolic antigen type 1 antibody positivity", "anti - liver cytosol antibody - 1 positivity" ], "HP:0030911": [ "bifid clitoris" ], "HP:0030912": [ "duplicate clitoris", "duplicated clitoris" ], "HP:0030913": [ "exaggerated rugosity of the labium majora", "exaggerated rugosity of the labia majora", "scrotum - like labium majora", "scrotum - like labia majora" ], "HP:0030914": [ "abnormal peristalsis" ], "HP:0030915": [ "cerebellar edema", "cerebellar oedema", "edema of the cerebellum", "oedema of the cerebellum" ], "HP:0030917": [ "low apgar score" ], "HP:0030918": [ "low 1 - minute apgar score", "low one - minute apgar score" ], "HP:0030919": [ "low 5 - minute apgar score", "low five - minute apgar score" ], "HP:0030920": [ "5 - minute apgar score of 0" ], "HP:0030921": [ "5 - minute apgar score of 1" ], "HP:0030922": [ "5 - minute apgar score of 2" ], "HP:0030923": [ "5 - minute apgar score of 3" ], "HP:0030924": [ "5 - minute apgar score of 4" ], "HP:0030925": [ "5 - minute apgar score of 5" ], "HP:0030926": [ "5 - minute apgar score of 6" ], "HP:0030927": [ "1 - minute apgar score of 0" ], "HP:0030928": [ "1 - minute apgar score of 1" ], "HP:0030929": [ "1 - minute apgar score of 2" ], "HP:0030930": [ "1 - minute apgar score of 3" ], "HP:0030931": [ "1 - minute apgar score of 4" ], "HP:0030932": [ "1 - minute apgar score of 5" ], "HP:0030933": [ "1 - minute apgar score of 6" ], "HP:0030934": [ "oral erythroplakia", "oral erythroplasia" ], "HP:0030935": [ "abnormality of intestinal smooth muscle morphology" ], "HP:0030936": [ "abnormal layering of muscularis propria", "muscularis propria malformation", "segmental additional circular muscle coat" ], "HP:0030937": [ "fibrotic muscularis propria" ], "HP:0030938": [ "enteric intraneuronal nuclear inclusion body", "enteric intraneuronal nuclear inclusion bodies" ], "HP:0030939": [ "palpebral thickening", "eyelid thickening", "thick eyelid", "thick eyelids", "thicken but nonswollen eyelid", "thickened but nonswollen eyelids", "thicken eyelid", "thickened eyelid" ], "HP:0030943": [ "vulvodynia", "vulvar pain" ], "HP:0030946": [ "conjunctival papilla", "conjunctival papillae" ], "HP:0030947": [ "conjunctival follicle", "conjunctival follicles" ], "HP:0030948": [ "elevate gamma - glutamyltransferase level", "elevated gamma - glutamyltransferase level", "elevate serum ggt", "elevated serum ggt" ], "HP:0030949": [ "glomerular deposit", "glomerular deposits" ], "HP:0030950": [ "pulmonary venous hypertension" ], "HP:0030951": [ "skeletal muscle fibrosis" ], "HP:0030952": [ "birdshot choroidal lesion", "birdshot choroidal lesions" ], "HP:0030953": [ "conjunctival hyperemia", "conjunctival hyperaemia", "conjunctival injection", "conjunctival vascular congestion" ], "HP:0030955": [ "alcoholism" ], "HP:0030956": [ "abnormality of cardiovascular system electrophysiology" ], "HP:0030957": [ "ventricular septal aneurysm", "ventricular septal dilatation" ], "HP:0030958": [ "membranous ventricular septal aneurysm", "aneurysm of the membranous ventricular septum", "interventricular septum membranous part aneurysm" ], "HP:0030959": [ "muscular ventricular septal aneurysm", "aneurysm of the muscular ventricular septum" ], "HP:0030961": [ "microspherophakia" ], "HP:0030962": [ "abnormal morphology of the great vessel", "abnormal morphology of the great vessels" ], "HP:0030964": [ "abnormal aortic physiology" ], "HP:0030965": [ "aortic stiffness", "increase aortic stiffness", "increased aortic stiffness" ], "HP:0030966": [ "abnormal pulmonary artery morphology" ], "HP:0030967": [ "abnormal pulmonary artery physiology" ], "HP:0030968": [ "abnormal pulmonary vein morphology" ], "HP:0030969": [ "abnormal pulmonary vein physiology" ], "HP:0030970": [ "abnormal vena cava physiology" ], "HP:0030972": [ "abnormal systemic blood pressure", "abnormal systemic bp" ], "HP:0030973": [ "postexertional malaise", "exercise - induced fatigue", "exercise - induced malaise", "postexertional fatigue" ], "HP:0030974": [ "cryptozoospermia", "cryptospermia" ], "HP:0030975": [ "pontine tegmental cap", "vault pontine tegmentum", "vaulted pontine tegmentum" ], "HP:0030976": [ "abnormal factor viii activity" ], "HP:0030977": [ "increase factor viii activity", "increased factor viii activity" ], "HP:0030978": [ "decrease csf / serum albumin ratio", "decreased csf / serum albumin ratio" ], "HP:0030979": [ "dilatation of large choroidal vessel", "dilatation of large choroidal vessels", "dilate choroidal vessel", "dilated choroidal vessels" ], "HP:0030980": [ "reduce brain glutamine level by mr", "reduced brain glutamine level by mrs" ], "HP:0030981": [ "abnormal csf / serum albumin ratio" ], "HP:0030983": [ "ovarian thecoma" ], "HP:0030984": [ "abnormal serum bile acid concentration" ], "HP:0030985": [ "decrease serum bile concentration", "decreased serum bile concentration" ], "HP:0030986": [ "biliary epithelial hyperplasia" ], "HP:0030987": [ "suppurative cholangitis" ], "HP:0030988": [ "granulomatous cholangitis" ], "HP:0030989": [ "lymphoid cholangitis" ], "HP:0030990": [ "pleomorphic cholangitis" ], "HP:0030991": [ "sclerosing cholangitis", "fibrous cholangitis" ], "HP:0030992": [ "abnormal pancreatic duct morphology" ], "HP:0030993": [ "duplication of pancreatic duct", "duplicate pancreatic duct", "duplicated pancreatic duct" ], "HP:0030994": [ "pancreas divisum" ], "HP:0030995": [ "peritoneal effusion" ], "HP:0030996": [ "megaduodenum" ], "HP:0030997": [ "atretic va deferens", "atretic vas deferens", "atresia of the va deferens", "atresia of the vas deferens", "va deferens atresia", "vas deferens atresia" ], "HP:0030998": [ "cerebrospinal fluid rhinorrhoea", "csf rhinorrhoea" ], "HP:0030999": [ "abnormal vestibular saccule morphology" ], "HP:0031000": [ "vestibular saccular degeneration" ], "HP:0031001": [ "minifascicle formation" ], "HP:0031002": [ "neuritis" ], "HP:0031003": [ "polyneuritis", "multiple neuritis" ], "HP:0031004": [ "hemiareflexia" ], "HP:0031006": [ "acroparesthesia" ], "HP:0031007": [ "orofacial action - specific dystonia induce by speech", "orofacial action - specific dystonia induced by speech", "jaw dystonia induce by speak", "jaw dystonia induced by speaking" ], "HP:0031008": [ "lingual dystonia", "tongue dystonia" ], "HP:0031009": [ "ainhum", "dactylolysis spontanea" ], "HP:0031010": [ "hyperphalangy of the 3rd finger", "hyperphalangy of third finger" ], "HP:0031011": [ "fatty streak", "sudanophilic lesion" ], "HP:0031012": [ "thin - cap fibroatheroma" ], "HP:0031013": [ "ankylosis" ], "HP:0031014": [ "arteria lusoria", "aberrant right subclavian artery", "lusorian artery" ], "HP:0031015": [ "intrahepatic portal vein sclerosis", "idiopathic non - cirrhotic portal hypertension", "incomplete septal cirrhosis", "non cirrhotic portal fibrosis", "obliterative portal venopathy" ], "HP:0031016": [ "alternate radiolucent and radiodense metaphyseal line", "alternating radiolucent and radiodense metaphyseal lines", "zebra stripe sign" ], "HP:0031017": [ "swiss cheese atrial septal defect" ], "HP:0031018": [ "eccrine syringofibroadenoma", "acrosyringeal adenomatosis", "eccrine syringofibroadenomatous hyperplasia", "syringofibroadenoma" ], "HP:0031019": [ "pyknotic bone marrow neutrophil", "pyknotic bone marrow neutrophils" ], "HP:0031020": [ "bone marrow hypercellularity" ], "HP:0031021": [ "squamous papilloma" ], "HP:0031022": [ "oropharyngeal squamous papilloma", "squamous papilloma of the uvula" ], "HP:0031023": [ "multiple mucosal neuroma", "multiple mucosal neuromas" ], "HP:0031024": [ "cylindroma" ], "HP:0031025": [ "gastric leiomyosarcoma" ], "HP:0031026": [ "snail - like ilium", "snail - like ilia", "schneckenbecken dysplasia", "snail - like pelvis", "snail - shape ilia", "snail - shaped ilia" ], "HP:0031027": [ "internal notch of the femoral head" ], "HP:0031028": [ "lactescent serum", "milk - like serum", "plasma lactescence" ], "HP:0031029": [ "elevate carcinoembryonic antigen level", "elevated carcinoembryonic antigen level", "increase plasma cea", "increased plasma cea" ], "HP:0031030": [ "elevate carcinoma antigen 125 level", "elevated carcinoma antigen 125 level", "increase plasma ca125", "increased plasma ca125" ], "HP:0031031": [ "abnormal retinol - binding protein level" ], "HP:0031032": [ "decrease retinol - bind protein level", "decreased retinol - binding protein level" ], "HP:0031033": [ "impaired urinary acidification", "renal acidification defect" ], "HP:0031034": [ "abnormal insulin like growth factor bind protein acid labile subunit level", "abnormal insulin like growth factor binding protein acid labile subunit level" ], "HP:0031035": [ "chronic infection" ], "HP:0031036": [ "reduce growth - hormone bind protein level", "reduced growth - hormone binding protein level", "decrease plasma gh - binding protein", "decreased plasma gh - binding protein" ], "HP:0031037": [ "reduce insulin - like factor 3 level", "reduced insulin - like factor 3 level", "reduce plasma insl3 level", "reduced plasma insl3 level" ], "HP:0031038": [ "spermatogenesis maturation arrest", "meiotic maturation arrest of spermatogenesis" ], "HP:0031039": [ "early spermatogenesis maturation arrest" ], "HP:0031040": [ "late spermatogenesis maturation arrest", "maturation arrest of spermatogenesis at spermatid stage" ], "HP:0031041": [ "obstruction of the superior vena cava", "superior vena cava obstruction", "superior vena cava syndrome" ], "HP:0031042": [ "strawberry tongue", "raspberry tongue" ], "HP:0031043": [ "type a4 brachydactyly" ], "HP:0031044": [ "type a5 brachydactyly" ], "HP:0031045": [ "acral blistering" ], "HP:0031046": [ "absent soft palate", "agenesis of the soft palate" ], "HP:0031047": [ "paraproteinemia", "monoclonal hypergammaglobulinemia" ], "HP:0031048": [ "light - chain paraproteinemia" ], "HP:0031049": [ "heavy - chain paraproteinemia" ], "HP:0031050": [ "whole - immunoglobulin paraproteinemia" ], "HP:0031051": [ "tarsal sclerosis" ], "HP:0031052": [ "elevate vascular endothelial growth factor level", "elevated vascular endothelial growth factor level" ], "HP:0031053": [ "coarctation in the transverse aortic arch" ], "HP:0031054": [ "long segment coarctation of the aorta" ], "HP:0031055": [ "abnormal branch pattern of left aortic arch", "abnormal branching pattern of left aortic arch" ], "HP:0031056": [ "fusiform cerebral aneurysm", "intracranial fusiform aneurysm" ], "HP:0031057": [ "skin fissure", "crack skin", "cracked skin" ], "HP:0031058": [ "impairment of activity of daily living", "impairment of activities of daily living" ], "HP:0031059": [ "impaired ability to bathe oneself" ], "HP:0031060": [ "impaired ability to dress oneself" ], "HP:0031061": [ "impaired toileting ability" ], "HP:0031062": [ "impaired transferring ability" ], "HP:0031063": [ "impaired feeding ability" ], "HP:0031064": [ "impaired continence" ], "HP:0031065": [ "abnormal ovarian morphology" ], "HP:0031066": [ "abnormal ovarian physiology" ], "HP:0031067": [ "empty ovarian follicle", "empty follicle syndrome" ], "HP:0031068": [ "increase femoral torsion", "increased femoral torsion" ], "HP:0031069": [ "abnormal femoral torsion" ], "HP:0031070": [ "decreased femoral torsion" ], "HP:0031071": [ "abnormal endocrine morphology" ], "HP:0031072": [ "abnormal endocrine physiology" ], "HP:0031073": [ "abnormal response to endocrine stimulation test" ], "HP:0031074": [ "abnormal response to acth stimulation test", "abnormal response to adrenocorticotropic - hormone stimulation test", "abnormal response to corticotropin stimulation test" ], "HP:0031075": [ "abnormal response to insulin tolerance test" ], "HP:0031076": [ "impaired cortisol response to insulin stimulation test" ], "HP:0031077": [ "abnormal response to corticotropin release hormone stimulation test", "abnormal response to corticotropin releasing hormone stimulation test", "abnormal response to crh stimulation test" ], "HP:0031078": [ "impaired cortisol response to corticotropin release hormone stimulation test", "impaired cortisol response to corticotropin releasing hormone stimulation test" ], "HP:0031079": [ "impaired growth - hormone response to insulin stimulation test" ], "HP:0031080": [ "abnormal response to glucagon stimulation test" ], "HP:0031081": [ "impaired cortisol response to glucagon stimulation test" ], "HP:0031082": [ "impaired growth - hormone response to glucagon stimulation test" ], "HP:0031083": [ "abnormal response to human chorionic gonadotrophin stimulation test", "abnormal response to hcg stimulation test" ], "HP:0031084": [ "excessive insulin response to glucagon test" ], "HP:0031085": [ "decrease prealbumin level", "decreased prealbumin level" ], "HP:0031086": [ "ectopic ovary", "undescended ovary" ], "HP:0031087": [ "absent pubertal growth spurt", "absent adolescent growth spurt" ], "HP:0031088": [ "vaginal dryness" ], "HP:0031089": [ "palatal edema", "palatal oedema", "palate edema", "palate oedema" ], "HP:0031090": [ "finger dactylitis", "sausage finger", "sausage fingers" ], "HP:0031091": [ "toe dactylitis", "sausage toe", "sausage toes" ], "HP:0031092": [ "spindle - shape finger", "spindle - shaped finger" ], "HP:0031093": [ "abnormal breast morphology" ], "HP:0031094": [ "abnormal breast physiology" ], "HP:0031095": [ "abnormal humerus morphology" ], "HP:0031096": [ "delay vertebral ossification", "delayed vertebral ossification" ], "HP:0031097": [ "abnormal thyroid - stimulate hormone level", "abnormal thyroid - stimulating hormone level", "abnormal circulate thyrotropin concentration", "abnormal circulating thyrotropin concentration", "abnormal thyrotropin level", "abnormal tsh level" ], "HP:0031098": [ "decrease thyroid - stimulate hormone level", "decreased thyroid - stimulating hormone level", "decrease plasma tsh", "decreased plasma tsh", "decrease thyrotropin level", "decreased thyrotropin level" ], "HP:0031099": [ "abnormal circulate inhibin level", "abnormal circulating inhibin level" ], "HP:0031100": [ "decrease inhibin b level", "decreased inhibin b level" ], "HP:0031101": [ "abnormal circulate antimullerian hormone concentration", "abnormal circulating antimullerian hormone concentration", "abnormal antimullerian hormone level" ], "HP:0031102": [ "increase antimullerian hormone level", "increased antimullerian hormone level", "increase plasma amh", "increased plasma amh" ], "HP:0031103": [ "decrease antimullerian hormone level", "decreased antimullerian hormone level", "decrease plasma amh", "decreased plasma amh" ], "HP:0031104": [ "insulin receptor antibody positivity" ], "HP:0031105": [ "abnormal uterus morphology" ], "HP:0031106": [ "t - shape uterus", "t - shaped uterus" ], "HP:0031107": [ "decrease fibular diameter", "decreased fibular diameter", "thin fibula" ], "HP:0031108": [ "triceps weakness" ], "HP:0031109": [ "agalactia", "lactation incapacity" ], "HP:0031110": [ "twin - to - twin transfusion", "twin to twin transfusion syndrome" ], "HP:0031111": [ "cutaneous hamartoma", "skin hamartoma" ], "HP:0031117": [ "purely bicuspid aortic valve" ], "HP:0031118": [ "single raphe bicuspid aortic valve" ], "HP:0031119": [ "bicuspid aortic valve with right - leave cusp fusion", "bicuspid aortic valve with right - left cusp fusion" ], "HP:0031120": [ "bicuspid aortic valve with right - noncoronary cusp fusion" ], "HP:0031121": [ "bicuspid aortic valve with left - noncoronary cusp fusion" ], "HP:0031122": [ "two - raphe bicuspid aortic valve" ], "HP:0031123": [ "recurrent gastroenteritis" ], "HP:0031124": [ "decrease platelet thromboxane a2 receptor", "decreased platelet thromboxane a2 receptor" ], "HP:0031125": [ "decrease platelet alpha - 2a - adrenergic receptor", "decreased platelet alpha - 2a - adrenergic receptor" ], "HP:0031126": [ "impaired clot retraction" ], "HP:0031127": [ "impaired convulxin - induced platelet aggregation" ], "HP:0031128": [ "impaired collagen - relate peptide - induced platelet aggregation", "impaired collagen - related peptide - induced platelet aggregation" ], "HP:0031129": [ "impaired phorbol myristate acetate - induced platelet aggregation" ], "HP:0031130": [ "impaired calcium ionophore - induced platelet aggregation", "impaired ca ionophore - induced platelet aggregation", "impaired ca2+ ionophore - induced platelet aggregation" ], "HP:0031131": [ "abnormal platelet phosphatidylserine exposure" ], "HP:0031132": [ "impaired annexin v bind to platelet phosphatidylserine", "impaired annexin v binding to platelet phosphatidylserine" ], "HP:0031133": [ "increase annexin v bind to platelet phosphatidylserine", "increased annexin v binding to platelet phosphatidylserine" ], "HP:0031134": [ "cor triatrium sinister" ], "HP:0031135": [ "trigger by physical trauma", "triggered by physical trauma", "physical trauma trigger symptom", "physical trauma triggered symptoms" ], "HP:0031136": [ "decrease acrosin in sperm head", "decreased acrosin in sperm head" ], "HP:0031137": [ "storage in hepatocytes" ], "HP:0031138": [ "abnormal b - type natriuretic peptide level" ], "HP:0031139": [ "frog - leg posture" ], "HP:0031140": [ "abnormal liver sonography" ], "HP:0031141": [ "increase hepatic echogenicity", "increased hepatic echogenicity", "hyperechogenic liver" ], "HP:0031142": [ "abnormal hepatic echogenicity" ], "HP:0031143": [ "decrease hepatic echogenicity", "decreased hepatic echogenicity", "hypoechogenic liver" ], "HP:0031144": [ "coarsen hepatic echotexture", "coarsened hepatic echotexture" ], "HP:0031145": [ "starry sky appearance on hepatic sonography" ], "HP:0031146": [ "impaired oral bolus formation" ], "HP:0031150": [ "vitreomacular adhesion" ], "HP:0031151": [ "vitreomacular traction" ], "HP:0031152": [ "full - thickness macular hole" ], "HP:0031153": [ "membranous vitreous appearance", "membranous anomaly", "membranous vitreous", "membranous vitreous phenotype" ], "HP:0031154": [ "bead vitreous appearance", "beaded vitreous appearance" ], "HP:0031155": [ "increase arden ratio of electrooculogram", "increased arden ratio of electrooculogram", "increase arden ratio of eog", "increased arden ratio of eog" ], "HP:0031156": [ "decrease platelet glycoprotein ib", "decreased platelet glycoprotein ib" ], "HP:0031157": [ "carotid cavernous fistula", "caroticocavernous fistula" ], "HP:0031158": [ "widen atrophic scar", "widened atrophic scar" ], "HP:0031159": [ "thinning of descemet membrane" ], "HP:0031160": [ "myelokathexis" ], "HP:0031161": [ "reduce brain glutamate level by mr", "reduced brain glutamate level by mrs" ], "HP:0031162": [ "impaired oropharyngeal swallow response" ], "HP:0031163": [ "low femoral bone density", "low femur bone density" ], "HP:0031164": [ "growth arrest line", "growth arrest lines", "growth resumption line", "growth resumption lines", "harris line", "harris lines" ], "HP:0031165": [ "multifocal seizure", "multifocal seizures", "multifocal onset seizure", "multifocal onset seizures" ], "HP:0031166": [ "eyelid myokymia", "myokymia orbicularis", "orbicularis myokymia" ], "HP:0031167": [ "trigger by ingestion of potassium - rich food", "triggered by ingestion of potassium - rich food", "potassium - rich food trigger symptom", "potassium - rich food triggered symptoms", "trigger by ingestion of k - rich food", "triggered by ingestion of k - rich food" ], "HP:0031169": [ "postterm pregnancy" ], "HP:0031170": [ "female fetal virilization", "female foetal virilization" ], "HP:0031171": [ "femoral spur", "spurring of femur" ], "HP:0031172": [ "sectoral retinitis pigmentosa" ], "HP:0031173": [ "tibial spur", "spurring of tibia", "spurring of tibiae" ], "HP:0031174": [ "double - layer patella", "double - layered patella" ], "HP:0031175": [ "absent cervical vertebra" ], "HP:0031176": [ "absent thoracic vertebra" ], "HP:0031177": [ "finger flexor weakness" ], "HP:0031178": [ "fix head retroflexion", "fixed head retroflexion" ], "HP:0031179": [ "nuchal rigidity", "meningism" ], "HP:0031180": [ "erythema migrans", "erythema chronicum migrans" ], "HP:0031181": [ "necrolytic migratory erythema" ], "HP:0031185": [ "increase circulate nt - probnp concentration", "increased circulating nt - probnp concentration", "increase nt - probnp level", "increased nt - probnp level" ], "HP:0031186": [ "abnormal circulate deoxycorticosterone level", "abnormal circulating deoxycorticosterone level" ], "HP:0031187": [ "abnormal circulate pregnenolone concentration", "abnormal circulating pregnenolone concentration", "abnormality of circulate pregnenolone level", "abnormality of circulating pregnenolone level" ], "HP:0031188": [ "genital edema", "genital oedema" ], "HP:0031189": [ "wrist drop" ], "HP:0031190": [ "superficial dermal perivascular inflammatory infiltrate", "superficial perivascular inflammatory infiltrate" ], "HP:0031191": [ "deep dermal perivascular inflammatory infiltrate", "deep perivascular inflammatory infiltrate" ], "HP:0031192": [ "abnormal morphology of left ventricular trabecula", "abnormal morphology of left ventricular trabeculae" ], "HP:0031193": [ "abnormal morphology of right ventricular trabecula", "abnormal morphology of right ventricular trabeculae" ], "HP:0031194": [ "increase density of left ventricular trabecula", "increased density of left ventricular trabeculae" ], "HP:0031195": [ "apical hypertrabeculation of the left ventricle" ], "HP:0031196": [ "thin myocardium compact layer" ], "HP:0031197": [ "cellular urinary cast", "cellular urinary casts", "cellular cast", "cellular casts" ], "HP:0031198": [ "renal tubular epithelial cell cast", "renal tubular epithelial cell casts" ], "HP:0031199": [ "acellular urinary cast", "acellular urinary casts", "acellular cast", "acellular casts" ], "HP:0031200": [ "hyaline cast", "hyaline casts" ], "HP:0031201": [ "granular cast", "granular casts" ], "HP:0031202": [ "waxy cast", "waxy casts" ], "HP:0031203": [ "fatty cast", "fatty casts" ], "HP:0031204": [ "bacterial cell cast", "bacterial cell casts" ], "HP:0031205": [ "reduce lysosomal acid lipase activity", "reduced lysosomal acid lipase activity", "reduce leukocyte acid lipase activity", "reduced leukocyte acid lipase activity" ], "HP:0031206": [ "striatal t2 hyperintensity" ], "HP:0031207": [ "hepatic hemangioma", "hemangioma of the liver", "liver hemangioma" ], "HP:0031208": [ "increase pituitary glycoprotein hormone alpha subunit level", "increased pituitary glycoprotein hormone alpha subunit level", "increase pituitary glycoprotein alpha subunit level", "increased pituitary glycoprotein alpha subunit level", "increase pituitary glycoprotein polypeptide alpha subunit level", "increased pituitary glycoprotein polypeptide alpha subunit level" ], "HP:0031209": [ "decrease circulate lipoprotein lipase concentration", "decreased circulating lipoprotein lipase concentration", "decrease lipoprotein lipase level", "decreased lipoprotein lipase level" ], "HP:0031210": [ "abnormal circulate hyaluronic acid concentration", "abnormal circulating hyaluronic acid concentration" ], "HP:0031211": [ "elevate cholesterol ester level", "elevated cholesterol ester level", "elevate cholesteryl ester level", "elevated cholesteryl ester level", "increase cholesterol ester", "increased cholesterol esters", "increase cholesteryl ester", "increased cholesteryl esters", "obsolete increase cholesterol ester", "obsolete increased cholesterol esters" ], "HP:0500010": [ "elevate cholesterol ester level", "elevated cholesterol ester level", "elevate cholesteryl ester level", "elevated cholesteryl ester level", "increase cholesterol ester", "increased cholesterol esters", "increase cholesteryl ester", "increased cholesteryl esters", "obsolete increase cholesterol ester", "obsolete increased cholesterol esters" ], "HP:0031212": [ "abnormal circulate progesterone level", "abnormal circulating progesterone level" ], "HP:0031213": [ "elevate circulate 17 - hydroxyprogesterone", "elevated circulating 17 - hydroxyprogesterone", "elevate circulate 17 - ohp", "elevated circulating 17 - ohp" ], "HP:0031214": [ "decrease circulate dehydroepiandrosterone concentration", "decreased circulating dehydroepiandrosterone concentration", "decrease circulate dehydroepiandrosterone level", "decreased circulating dehydroepiandrosterone level" ], "HP:0031215": [ "decrease circulate dehydroepiandrosterone - sulfate concentration", "decreased circulating dehydroepiandrosterone - sulfate concentration", "decrease circulate dehydroepiandrosterone - sulfate level", "decreased circulating dehydroepiandrosterone - sulfate level" ], "HP:0031216": [ "increase circulate progesterone", "increased circulating progesterone" ], "HP:0031217": [ "hot flash", "hot flashes" ], "HP:0031218": [ "inappropriate antidiuretic hormone secretion", "inappropriate adh secretion", "syndrome of inappropriate antidiuretic hormone secretion" ], "HP:0031219": [ "reduce radioactive iodine uptake", "reduced radioactive iodine uptake" ], "HP:0031220": [ "increase radioactive iodine uptake", "increased radioactive iodine uptake" ], "HP:0031221": [ "abnormal radioactive iodine uptake test result" ], "HP:0031222": [ "increase circulate thyroxine - binding globulin level", "increased circulating thyroxine - binding globulin level" ], "HP:0031223": [ "focal pancreatic islet hyperplasia" ], "HP:0031224": [ "diffuse pancreatic islet hyperplasia" ], "HP:0031225": [ "intrapulmonary shunt", "intrapulmonary shunting" ], "HP:0031226": [ "perinephric fluid collection" ], "HP:0031227": [ "nasopharyngeal teratoma" ], "HP:0031228": [ "abnormal incisura morphology" ], "HP:0031229": [ "increase incisura length", "increased incisura length" ], "HP:0031230": [ "decrease incisura length", "decreased incisura length" ], "HP:0031231": [ "narrow incisura width" ], "HP:0031232": [ "increase incisura width", "increased incisura width" ], "HP:0031233": [ "horizontal inferior border of scapula", "squaring of the inferior scapula", "squaring of the inferior scapulae", "squaring of the scapula" ], "HP:0031234": [ "neutrophilic infiltration of the skin" ], "HP:0031235": [ "predominantly epidermal neutrophilic infiltrate" ], "HP:0031236": [ "predominantly dermal neutrophilic infiltrate" ], "HP:0031237": [ "internally nucleated skeletal muscle fiber", "internally nucleated skeletal muscle fibers", "internally nucleated skeletal muscle fibre", "internally nucleated skeletal muscle fibres" ], "HP:0031238": [ "necklace skeletal muscle fiber", "necklace skeletal muscle fibers", "necklace skeletal muscle fibre", "necklace skeletal muscle fibres" ], "HP:0031239": [ "extrafoveal choroidal neovascularization" ], "HP:0031240": [ "juxtafoveal choroidal neovascularization" ], "HP:0031241": [ "subfoveal choroidal neovascularization" ], "HP:0031242": [ "decrease circulate chylomicron concentration", "decreased circulating chylomicron concentration", "decrease circulate chylomicron level", "decreased circulating chylomicron levels", "hypochylomicronemia" ], "HP:0031243": [ "decrease vldl cholesterol concentration", "decreased vldl cholesterol concentration", "decreased circulate very - low - density lipoprotein level", "decreased circulating very - low - density lipoprotein levels" ], "HP:0031244": [ "swell lip", "swollen lip", "swelling of the lip" ], "HP:0031245": [ "productive cough", "cough with mucus production", "wet cough" ], "HP:0031246": [ "nonproductive cough", "dry cough", "dry coughing" ], "HP:0031247": [ "whooping cough" ], "HP:0031248": [ "palmar pruritus", "itchy palm" ], "HP:0031249": [ "parageusia", "altered sense of taste", "dysgeusia", "metallic taste", "metallic taste in mouth" ], "HP:0031250": [ "lip fissure" ], "HP:0031251": [ "abnormal subclavian artery morphology" ], "HP:0031252": [ "dilate leave subclavian artery", "dilated left subclavian artery" ], "HP:0031253": [ "anomalous origin of left subclavian artery" ], "HP:0031254": [ "thalamic arteriovenous malformation" ], "HP:0031255": [ "hypothalamic arteriovenous malformation" ], "HP:0031256": [ "optic nerve arteriovenous malformation" ], "HP:0031257": [ "arteriovenous malformation of the maxilla" ], "HP:0031258": [ "delirium" ], "HP:0031259": [ "oophoritis", "inflammed ovary" ], "HP:0031260": [ "triangular tibia" ], "HP:0031261": [ "bladder polyp" ], "HP:0031263": [ "abnormal renal corpuscle morphology" ], "HP:0031264": [ "abnormal bowman capsule morphology", "abnormal morphology of bowman capsule", "abnormal morphology of bowman 's capsule", "abnormal renal glomerular capsule morphology" ], "HP:0031265": [ "abnormal glomerular visceral epithelial cell morphology", "abnormal podocyte morphology", "abnormal visceral epithelial cell morphology" ], "HP:0031266": [ "podocyte foot process effacement", "loss of primary podocyte process", "loss of primary podocyte processes" ], "HP:0031267": [ "abnormal cd69 upregulation upon tcr activation" ], "HP:0031268": [ "decrease cd69 upregulation upon tcr activation", "decreased cd69 upregulation upon tcr activation" ], "HP:0031269": [ "abnormal cd25 upregulation upon tcr activation" ], "HP:0031270": [ "decrease cd25 upregulation upon tcr activation", "decreased cd25 upregulation upon tcr activation", "poor cd25 upregulation upon tcr activation", "reduce il2ra upregulation upon tcr activation", "reduced il2ra upregulation upon tcr activation" ], "HP:0031271": [ "absent ankle pulse" ], "HP:0031272": [ "pulmonary arterial atherosclerosis" ], "HP:0031273": [ "shock" ], "HP:0031274": [ "hypovolemic shock" ], "HP:0031275": [ "distributive shock" ], "HP:0031276": [ "obstructive shock" ], "HP:0031278": [ "abnormal thoracic duct morphology" ], "HP:0031279": [ "abnormal response to gonadotropin - release hormone stimulation test", "abnormal response to gonadotropin - releasing hormone stimulation test", "abnormal response to gnrh stimulation test" ], "HP:0031280": [ "increase lh response to gonadotropin - release hormone stimulation test", "increased lh response to gonadotropin - releasing hormone stimulation test" ], "HP:0031281": [ "sialadenitis" ], "HP:0031282": [ "malalignment of the great toenail" ], "HP:0031283": [ "tufted hair", "tufted hairs" ], "HP:0031284": [ "flush", "flushing" ], "HP:0031285": [ "abnormal perifollicular morphology" ], "HP:0031286": [ "perifollicular erythema" ], "HP:0031287": [ "seborrheic keratosis", "basal cell papilloma", "seborrheic verruca", "senile wart" ], "HP:0031288": [ "cobblestone - like hyperkeratosis" ], "HP:0031289": [ "white papule" ], "HP:0031290": [ "tuberous xanthoma" ], "HP:0031291": [ "ichthyosis follicularis" ], "HP:0031292": [ "cutaneous abscess", "skin abscess" ], "HP:0031293": [ "digital pitting scar" ], "HP:0031294": [ "hypoplastic right atrium" ], "HP:0031295": [ "leave atrial enlargement", "left atrial enlargement", "enlarged heart leave atrium", "enlarged heart left atrium" ], "HP:0031296": [ "atrial septal hypertrophy" ], "HP:0031297": [ "unroofed coronary sinus" ], "HP:0031298": [ "coronary sinus enlargement", "coronary sinus dilatation", "enlarge coronary sinus", "enlarged coronary sinus" ], "HP:0031299": [ "elevate leave atrial pressure", "elevated left atrial pressure" ], "HP:0031300": [ "abnormal circulate properdin level", "abnormal circulating properdin level" ], "HP:0031301": [ "peripheral arterial calcification", "peripheral artery calcification" ], "HP:0031302": [ "low extremity peripheral arterial calcification", "lower extremity peripheral arterial calcification", "low extremity peripheral artery calcification", "lower extremity peripheral artery calcification" ], "HP:0031303": [ "femoral arterial calcification" ], "HP:0031304": [ "iliac arterial calcification" ], "HP:0031305": [ "tibial arterial calcification" ], "HP:0031306": [ "intracranial arterial calcification" ], "HP:0031307": [ "internal carotid artery calcification" ], "HP:0031308": [ "vertebral artery calcification" ], "HP:0031309": [ "cerebral artery calcification" ], "HP:0031310": [ "basilar artery calcification" ], "HP:0031311": [ "middle cerebral artery calcification" ], "HP:0031313": [ "abdominal aortic calcification" ], "HP:0031314": [ "carotid artery calcification" ], "HP:0031315": [ "external carotid artery calcification" ], "HP:0031316": [ "abnormal ventricular myocardium morphology" ], "HP:0031317": [ "fatty replacement of ventricular myocardial tissue", "fatty infiltration of cardiac ventricle", "intramyocardial fat infiltration" ], "HP:0031318": [ "myofiber disarray", "myocardial fiber disarray", "myocardial fibre disarray" ], "HP:0031319": [ "cardiomyocyte hypertrophy", "myocyte cellular hypertrophy" ], "HP:0031320": [ "cardiomyocyte mitochondrial proliferation" ], "HP:0031321": [ "myocardial immune cell infiltration" ], "HP:0031322": [ "myocardial lymphocytic infiltration" ], "HP:0031323": [ "myocardial eosinophilic infiltration" ], "HP:0031324": [ "myocardial multinucleated giant cell", "myocardial multinucleated giant cells" ], "HP:0031325": [ "myocardial granulomatous infiltrates" ], "HP:0031326": [ "monoclonal light chain cardiac amyloidosis" ], "HP:0031327": [ "transthyretin cardiac amyloidosis", "ttr cardiac amyloidosis" ], "HP:0031328": [ "perivascular cardiac fibrosis" ], "HP:0031329": [ "interstitial cardiac fibrosis" ], "HP:0031330": [ "perivascular myocardial immune cell infiltration" ], "HP:0031331": [ "abnormal cardiomyocyte morphology", "abnormal cardiac muscle cell morphology" ], "HP:0031332": [ "cardiomyocyte degeneration" ], "HP:0031333": [ "myocardial sarcomeric disarray", "myocardial sarcomere disarray" ], "HP:0031334": [ "cardiomyocyte inclusion body", "cardiomyocyte inclusion bodies" ], "HP:0031335": [ "abnormal cardiomyocyte mitochondrial morphology" ], "HP:0031336": [ "intranuclear cardiomyocyte mitochondrion", "intranuclear cardiomyocyte mitochondria" ], "HP:0031337": [ "abnormal cardiomyocyte connexin43 stain", "abnormal cardiomyocyte connexin43 staining" ], "HP:0031338": [ "abnormal cardiomyocyte plakoglobin stain", "abnormal cardiomyocyte plakoglobin staining" ], "HP:0031339": [ "abnormal cadiomyocyte dystrophin stain", "abnormal cadiomyocyte dystrophin staining" ], "HP:0031340": [ "abnormal lysosomal morphology" ], "HP:0031341": [ "gastric arteriovenous malformation" ], "HP:0031342": [ "duodenal arteriovenous malformation" ], "HP:0031343": [ "jejunal arteriovenous malformation" ], "HP:0031344": [ "pelvic arteriovenous malformation" ], "HP:0031345": [ "colonic arteriovenous malformation" ], "HP:0031346": [ "rectal arteriovenous malformation" ], "HP:0031347": [ "uterine arteriovenous malformation" ], "HP:0031348": [ "dextrotransposition of the great artery", "dextrotransposition of the great arteries", "d - loop transposition of the great artery", "d - loop transposition of the great arteries" ], "HP:0031349": [ "levotransposition of the great artery", "levotransposition of the great arteries" ], "HP:0031350": [ "cardiac sarcoma" ], "HP:0031351": [ "calcify amorphous tumor of the heart", "calcified amorphous tumor of the heart", "calcify amorphous tumour of the heart", "calcified amorphous tumour of the heart" ], "HP:0031352": [ "chest tightness", "chest distress", "tightness in chest", "tightness of chest" ], "HP:0031353": [ "otitis medium with effusion", "otitis media with effusion", "fluid behind eardrum" ], "HP:0031354": [ "sleep onset insomnia", "difficulty fall asleep", "difficulty falling asleep" ], "HP:0031355": [ "maintenance insomnia", "wake up several time during the night", "waking up several times during the night" ], "HP:0031356": [ "terminal insomnia", "late insomnia" ], "HP:0031357": [ "glomeruloid hemangioma" ], "HP:0031358": [ "vegetative state" ], "HP:0031359": [ "cutaneous sclerotic plaque" ], "HP:0031360": [ "yellow skin plaque" ], "HP:0031361": [ "zebra body", "zebra bodies" ], "HP:0031362": [ "sex - limited autosomal recessive inheritance" ], "HP:0031363": [ "palpable purpura" ], "HP:0031364": [ "ecchymosis", "ecchymoses" ], "HP:0031365": [ "macular purpura", "flat purpura" ], "HP:0031366": [ "palate neoplasm" ], "HP:0031367": [ "metaphyseal striation", "metaphyseal striations", "striate metaphysis", "striated metaphysis" ], "HP:0031368": [ "intestinal perforation" ], "HP:0031369": [ "colon perforation", "perforation of the colon" ], "HP:0031370": [ "small intestinal perforation" ], "HP:0031371": [ "rectal perforation" ], "HP:0031372": [ "cold paresis" ], "HP:0031373": [ "stiff tongue", "tongue stiffness" ], "HP:0031374": [ "ankle weakness" ], "HP:0031375": [ "refractory" ], "HP:0031377": [ "abnormal cell proliferation" ], "HP:0031378": [ "abnormal lymphocyte proliferation" ], "HP:0031379": [ "abnormal t cell proliferation" ], "HP:0031380": [ "abnormal b cell proliferation" ], "HP:0031381": [ "decrease lymphocyte proliferation in response to mitogen", "decreased lymphocyte proliferation in response to mitogen", "reduce lymphocyte proliferation to mitogen", "reduced lymphocyte proliferation to mitogen" ], "HP:0031382": [ "decrease lymphocyte proliferation in response to anti - cd3", "decreased lymphocyte proliferation in response to anti - cd3", "defective lymphocyte proliferation to anti - cd3", "defective proliferation of lymphocyte follow anti - cd3 stimulation", "defective proliferation of lymphocytes following anti - cd3 stimulation" ], "HP:0031383": [ "abnormal lymphocyte surface marker expression" ], "HP:0031384": [ "reduce t cell cd40 expression", "reduced t cell cd40 expression" ], "HP:0031385": [ "megakaryocyte nucleus hypolobulation" ], "HP:0031386": [ "increase micromegakaryocyte count", "increased micromegakaryocyte count" ], "HP:0031387": [ "increase multinucleated megakaryocyte count", "increased multinucleated megakaryocyte count" ], "HP:0031388": [ "megakaryocyte nucleus hyperlobulation" ], "HP:0031389": [ "abnormal mhc ii surface expression" ], "HP:0031390": [ "reduce mhc ii surface expression", "reduced mhc ii surface expression" ], "HP:0031391": [ "elevate mhc ii surface expression", "elevated mhc ii surface expression" ], "HP:0031392": [ "abnormal proportion of cd4 - positive t cell", "abnormal proportion of cd4 - positive t cells", "abnormal proportion of cd4+ t cell", "abnormal proportion of cd4+ t cells", "abnormal proportion of cd4 - positive , alpha - beta t cell", "abnormal proportion of cd4 - positive , alpha - beta t cells" ], "HP:0031393": [ "abnormal proportion of cd8 - positive t cell", "abnormal proportion of cd8 - positive t cells", "abnormal proportion of cd8+ t cell", "abnormal proportion of cd8+ t cells", "abnormal proportion of cd8 - positive , alpha - beta t cell", "abnormal proportion of cd8 - positive , alpha - beta t cells" ], "HP:0031394": [ "abnormal cd4 : cd8 ratio" ], "HP:0031396": [ "abnormal proportion of naive t cell", "abnormal proportion of naive t cells", "abnormal naive t cell proportion", "abnormal proportion of naive thymus - derive , alpha - beta t cell", "abnormal proportion of naive thymus - derived , alpha - beta t cells" ], "HP:0031397": [ "decreased proportion of naive t cell", "decreased proportion of naive t cells", "decreased proportion of naive thymus - derive , alpha - beta t cell", "decreased proportion of naive thymus - derived , alpha - beta t cells", "reduce proportion of naive t cell", "reduced proportion of naive t cells" ], "HP:0031398": [ "increase proportion of naive t cell", "increased proportion of naive t cells", "elevate proportion of naive t cell", "elevated proportion of naive t cells", "increase proportion of naive thymus - derive , alpha - beta t cell", "increased proportion of naive thymus - derived , alpha - beta t cells" ], "HP:0031399": [ "abnormal proportion of double - negative alpha - beta regulatory t cell", "abnormal cd4 - negative , cd8 - negative , alpha - beta regulatory t cell distribution", "abnormal dn treg distribution", "abnormal double negative treg distribution", "abnormal double - negative alpha - beta regulatory t cell distribution" ], "HP:0031401": [ "reduce proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell", "reduced proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells" ], "HP:0031402": [ "reduce antigen - specific t cell proliferation", "reduced antigen - specific t cell proliferation", "antigen - specific t cell proliferation defect", "impaired activate t cell proliferation", "impaired activated t cell proliferation", "impaired ag - specific t cell proliferation", "impaired cellular adaptive immune response" ], "HP:0031403": [ "impaired pathogen - specific cd8 cytoxicity", "pathogen - specific cd8 cytoxicity defect" ], "HP:0031404": [ "impaired antigen - specific response", "impaired adaptive immune response" ], "HP:0031405": [ "poroma" ], "HP:0031406": [ "abnormal cytokine signal", "abnormal cytokine signaling", "abnormal cytokine signalling" ], "HP:0031407": [ "impaired cytokine signal", "impaired cytokine signaling", "cytokine signal defect", "cytokine signaling defect", "cytokine signalling defect", "impaired cytokine signalling" ], "HP:0031408": [ "increase proportion of cd25+ mast cell", "increased proportion of cd25+ mast cells" ], "HP:0031409": [ "abnormal lymphocyte physiology" ], "HP:0031410": [ "abnormal distribution of cd56 bright / dim natural killer cell", "abnormal distribution of cd56 bright / dim natural killer cells", "abnormal distribution of cd56 bright / dim nk cell", "abnormal distribution of cd56 bright / dim nk cells" ], "HP:0031411": [ "abnormal chromosome morphology" ], "HP:0031412": [ "abnormal telomere morphology" ], "HP:0031413": [ "short telomere length" ], "HP:0031414": [ "high serum calcifediol", "high serum 25 - hydroxycholecalciferol", "high serum calcidiol" ], "HP:0031415": [ "obsolete increase serum 1,25 - dihydroxyvitamin d3", "obsolete increased serum 1,25 - dihydroxyvitamin d3", "high serum calcitriol", "high serum 1,25 - dihydroxycholecalciferol", "high serum 1,25 - dihydroxyvitamin d3", "increase serum 1,25 - dihydroxyvitamin d3", "increased serum 1,25 - dihydroxyvitamin d3", "increase serum calcitriol", "increased serum calcitriol" ], "HP:0031416": [ "abnormal nasal mucus secretion" ], "HP:0031417": [ "rhinorrhea", "nasal discharge", "runny nose" ], "HP:0031418": [ "increase body mass index", "increased body mass index", "increase bmi", "increased bmi" ], "HP:0031419": [ "reduce sex - hormone bind protein level", "reduced sex - hormone binding protein level", "reduce androgen - bind protein level", "reduced androgen - binding protein level" ], "HP:0031420": [ "small yellow foveal lesion with surround gray zone", "small yellow foveal lesion with surrounding gray zone", "laser pointer - induce maculopathy", "laser pointer - induced maculopathy", "laser pointer - induce retinopathy", "laser pointer - induced retinopathy", "light induce retinopathy", "light induced retinopathy", "photic retinopathy", "small yellow foveal lesion with surround grey zone", "small yellow foveal lesion with surrounding grey zone", "solar retinitis", "solar retinopathy" ], "HP:0031421": [ "small superior frontal cortex" ], "HP:0031422": [ "abnormal cerebellar cortex morphology", "abnormal morphology of the cerebellar cortex" ], "HP:0031423": [ "small cerebellar cortex" ], "HP:0031424": [ "abnormal circulate beta - c - terminal telopeptide level", "abnormal circulating beta - c - terminal telopeptide level", "abnormal circulate beta - crosslaps level", "abnormal circulating beta - crosslaps level", "abnormal circulate beta - ctx level", "abnormal circulating beta - ctx level" ], "HP:0031425": [ "increase circulate beta - c - terminal telopeptide level", "increased circulating beta - c - terminal telopeptide level", "increase circulate beta - crosslaps level", "increased circulating beta - crosslaps level", "increase circulate beta - ctx level", "increased circulating beta - ctx level" ], "HP:0031426": [ "decrease circulate beta - c - terminal telopeptide level", "decreased circulating beta - c - terminal telopeptide level", "decrease circulate beta - crosslaps level", "decreased circulating beta - crosslaps level", "decrease circulate beta - ctx level", "decreased circulating beta - ctx level" ], "HP:0031427": [ "abnormal circulate osteocalcin level", "abnormal circulating osteocalcin level" ], "HP:0031428": [ "increase circulate osteocalcin level", "increased circulating osteocalcin level" ], "HP:0031429": [ "decrease circulate osteocalcin level", "decreased circulating osteocalcin level" ], "HP:0031430": [ "oligoclonal t cell expansion" ], "HP:0031431": [ "persistent repetition of word", "persistent repetition of words" ], "HP:0031432": [ "persistent repetition of action", "persistent repetition of actions" ], "HP:0031433": [ "alexithymia", "unaware of others ' emotion", "unaware of others ' emotions" ], "HP:0031434": [ "abnormal speech prosody" ], "HP:0031435": [ "monotonic speech" ], "HP:0031436": [ "increase pitch variability of speech", "increased pitch variability of speech" ], "HP:0031437": [ "pregnancy exposure", "exposure during pregnancy" ], "HP:0031438": [ "abnormal sex hormone - binding globulin level" ], "HP:0031439": [ "abnormal angiostatin level" ], "HP:0031441": [ "abnormal tricuspid valve annulus morphology" ], "HP:0031442": [ "abnormal tricuspid chordae tendinae morphology" ], "HP:0031443": [ "abnormal tricuspid valve leaflet morphology" ], "HP:0031444": [ "dilatation of the tricuspid annulus" ], "HP:0031445": [ "oral mucosa nodule" ], "HP:0031446": [ "erosion of oral mucosa" ], "HP:0031447": [ "penile freckle", "penile freckling" ], "HP:0031448": [ "herpetiform vesicle", "herpetiform vesicles" ], "HP:0031449": [ "perineal hemangioma" ], "HP:0031450": [ "polycyclic" ], "HP:0031451": [ "low extremity subcutanous fat hypertrophy", "lower extremity subcutanous fat hypertrophy" ], "HP:0031452": [ "lichenoid skin lesion" ], "HP:0031453": [ "oral lichenoid lesion" ], "HP:0031454": [ "apocrine hidrocystoma" ], "HP:0031455": [ "presacral ganglioneuroma" ], "HP:0031456": [ "ectopic pregnancy" ], "HP:0031457": [ "pulmonary opacity" ], "HP:0031458": [ "adenoiditis" ], "HP:0031459": [ "soft tissue neoplasm" ], "HP:0031460": [ "benign muscle neoplasm" ], "HP:0031461": [ "intramuscular myxoma", "im myxoma" ], "HP:0031462": [ "musculotendinous retraction" ], "HP:0031463": [ "esophageal squamous papilloma" ], "HP:0031464": [ "genital blistering" ], "HP:0031465": [ "abnormal vas vasorum morphology", "abnormal vasa vasorum morphology" ], "HP:0031466": [ "impairment in personality functioning" ], "HP:0031467": [ "negative affectivity" ], "HP:0031468": [ "separation insecurity" ], "HP:0031469": [ "low self esteem" ], "HP:0031472": [ "risk take", "risk taking" ], "HP:0031473": [ "hostility" ], "HP:0031474": [ "pulmonary chondroma" ], "HP:0031475": [ "status epilepticus without prominent motor symptom", "status epilepticus without prominent motor symptoms", "nonconvulsive status epilepticus" ], "HP:0031476": [ "abnormal buccal mucosa cell morphology" ], "HP:0031478": [ "abnormal mitral valve annulus morphology" ], "HP:0031479": [ "dilatation of the mitral annulus" ], "HP:0031480": [ "abnormal mitral valve leaflet morphology" ], "HP:0031481": [ "abnormal mitral valve physiology" ], "HP:0031482": [ "abnormal regional leave ventricular contraction", "abnormal regional left ventricular contraction" ], "HP:0031483": [ "reduce contraction of the left ventricular apex", "reduced contraction of the left ventricular apex" ], "HP:0031484": [ "cold - induced hemolysis" ], "HP:0031485": [ "subperiosteal bone formation", "periosteal reaction" ], "HP:0031486": [ "vascular malformation of the lip" ], "HP:0031487": [ "capillary malformation of the lip" ], "HP:0031488": [ "arteriovenous malformation of the lip", "atypical connection between artery and vein", "atypical connection between arteries and veins" ], "HP:0031489": [ "venous malformation of the lip" ], "HP:0031490": [ "hemangioma of the lip" ], "HP:0031491": [ "continuous spike and wave during slow sleep", "continuous spike and waves during slow sleep", "electrical status epilepticus during slow - wave sleep" ], "HP:0031492": [ "epithelial neoplasm" ], "HP:0031493": [ "glandular cell neoplasm" ], "HP:0031494": [ "ovarian mucinous tumor", "mucinous neoplasm of the ovary", "ovarian mucinous tumour" ], "HP:0031495": [ "mucinous neoplasm" ], "HP:0031496": [ "mucinous cystic neoplasm of the pancreas" ], "HP:0031497": [ "mucinous colorectal carcinoma" ], "HP:0031498": [ "mucinous gastric carcinoma" ], "HP:0031499": [ "appendiceal mucinous neoplasm" ], "HP:0031500": [ "abdominal mass" ], "HP:0031501": [ "pelvic mass" ], "HP:0031502": [ "trophoblastic tumor", "trophoblastic tumour" ], "HP:0031503": [ "night gasp", "night gasping" ], "HP:0031504": [ "foamy urine", "frothy urine" ], "HP:0031505": [ "abnormal circulate t4 level", "abnormal circulating t4 level", "abnormal circulate thyroxine level", "abnormal circulating thyroxine level" ], "HP:0031506": [ "increase circulate t4 level", "increased circulating t4 level", "increase circulate thyroxine level", "increased circulating thyroxine level" ], "HP:0031507": [ "decrease circulate t4 level", "decreased circulating t4 level", "decrease circulate thyroxine level", "decreased circulating thyroxine level", "reduce t4 plasma level", "reduced t4 plasma level" ], "HP:0031508": [ "abnormal thyroid hormone level" ], "HP:0031509": [ "dry nipple" ], "HP:0031510": [ "linear earlobe crease" ], "HP:0031511": [ "diagonal earlobe crease" ], "HP:0031512": [ "abnormal cutaneous collagen fibril morphology" ], "HP:0031513": [ "luse body", "luse bodies" ], "HP:0031514": [ "increase proportion of exhausted t cell", "increased proportion of exhausted t cells" ], "HP:0031515": [ "abnormal meiosis" ], "HP:0031516": [ "oocyte arrest at metaphase i", "metaphase i oocyte meiotic arrest", "oocyte meiotic arrest at metaphase i" ], "HP:0031517": [ "verruciform xanthoma" ], "HP:0031518": [ "absent posterior alpha rhythm" ], "HP:0031519": [ "cauliflower deformity of dermal collagen fibril", "cauliflower deformity of dermal collagen fibrils" ], "HP:0031520": [ "groin pain" ], "HP:0031521": [ "vaginal clear cell adenocarcinoma", "clear cell adenocarcinoma of the vagina" ], "HP:0031522": [ "cervical clear cell adenocarcinoma", "clear cell carcinoma of cervix" ], "HP:0031523": [ "salivary gland oncocytoma", "parotid oncocytoma" ], "HP:0031524": [ "ampulla of vater carcinoma" ], "HP:0031525": [ "keratoacanthoma" ], "HP:0031526": [ "subretinal fluid", "sub - retinal fluid" ], "HP:0031527": [ "intraretinal fluid", "intra - retinal fluid" ], "HP:0031528": [ "subretinal deposit", "subretinal deposits" ], "HP:0031529": [ "focal subretinal deposit", "focal subretinal deposits" ], "HP:0031530": [ "multifocal subretinal deposit", "multifocal subretinal deposits" ], "HP:0031531": [ "sub - rpe deposit", "sub - rpe deposits" ], "HP:0031532": [ "focal sub - rpe deposit", "focal sub - rpe deposits" ], "HP:0031533": [ "multifocal sub - rpe deposit", "multifocal sub - rpe deposits" ], "HP:0031534": [ "passive dorsiflexion of the 5th finger more than 90 degree", "passive dorsiflexion of the 5th finger more than 90 degrees" ], "HP:0031535": [ "increase theta frequency activity in eeg", "increased theta frequency activity in eeg" ], "HP:0031536": [ "separate origin of the left anterior descending and leave circumflex artery", "separate origin of the left anterior descending and left circumflex artery" ], "HP:0031537": [ "anomalous origin of the left circumflex artery from the right coronary artery" ], "HP:0031538": [ "abnormal dermoepidermal junction morphology" ], "HP:0031539": [ "linear iga deposit along the epidermal basement membrane zone", "linear iga deposits along the epidermal basement membrane zone" ], "HP:0031540": [ "linear igg deposit along the epidermal basement membrane zone", "linear igg deposits along the epidermal basement membrane zone" ], "HP:0031541": [ "linear c3 deposit along the epidermal basement membrane zone", "linear c3 deposits along the epidermal basement membrane zone" ], "HP:0031542": [ "myelin - like whorl in vacuolated fiber", "myelin - like whorls in vacuolated fibers", "myelin - like whorl in vacuolated fibre", "myelin - like whorls in vacuolated fibres" ], "HP:0031544": [ "elevate circulate palmitoleylcarnitine concentration", "elevated circulating palmitoleylcarnitine concentration", "elevate circulate o - propionylcarnitine concentration", "elevated circulating o - propionylcarnitine concentration", "elevate plasma palmitoleylcarnitine , c16:1", "elevated plasma palmitoleylcarnitine , c16:1", "elevate plasma propionylcarnitine , c3:0", "elevated plasma propionylcarnitine , c3:0", "elevate propionylcarnitine level", "elevated propionylcarnitine level", "obsolete elevate circulate palmitoleylcarnitine concentration", "obsolete elevated circulating palmitoleylcarnitine concentration" ], "HP:0033463": [ "elevate circulate palmitoleylcarnitine concentration", "elevated circulating palmitoleylcarnitine concentration", "elevate circulate o - propionylcarnitine concentration", "elevated circulating o - propionylcarnitine concentration", "elevate plasma palmitoleylcarnitine , c16:1", "elevated plasma palmitoleylcarnitine , c16:1", "elevate plasma propionylcarnitine , c3:0", "elevated plasma propionylcarnitine , c3:0", "elevate propionylcarnitine level", "elevated propionylcarnitine level", "obsolete elevate circulate palmitoleylcarnitine concentration", "obsolete elevated circulating palmitoleylcarnitine concentration" ], "HP:0031545": [ "abnormally low t cell receptor excision circle level" ], "HP:0031546": [ "cardiac conduction abnormality", "abnormality of cardiac conduction", "abnormality of cardiac conduction system", "cardiac conduction abnormalities", "cardiac conduction defect", "cardiac conduction defects", "heart conduction disorder" ], "HP:0031547": [ "abnormal qt interval" ], "HP:0031548": [ "follicular infundibulum tumor", "basal cell hamartoma with follicular differentiation", "follicular infundibulum tumour" ], "HP:0031549": [ "lymphocytoma cutis", "skin pseudolymphoma", "spiegler - fendt sarcoid" ], "HP:0031550": [ "abnormal flow cytometry test result" ], "HP:0031551": [ "reduce cell surface marker level", "reduced cell surface marker level" ], "HP:0031552": [ "reduce fibroblast surface marker level", "reduced fibroblast surface marker level" ], "HP:0031553": [ "reduce granulocyte surface marker level", "reduced granulocyte surface marker level" ], "HP:0031554": [ "reduce granulocyte cd55 level", "reduced granulocyte cd55 level" ], "HP:0031555": [ "reduce granulocyte cd59 level", "reduced granulocyte cd59 level" ], "HP:0031556": [ "reduce granulocyte cd16 level", "reduced granulocyte cd16 level" ], "HP:0031557": [ "reduce fibroblast cd55 level", "reduced fibroblast cd55 level" ], "HP:0031558": [ "reduce fibroblast cd59 level", "reduced fibroblast cd59 level" ], "HP:0031559": [ "reduce fibroblast cd16 level", "reduced fibroblast cd16 level" ], "HP:0031560": [ "coronary cameral fistula" ], "HP:0031561": [ "coronary cameral fistula to right ventricle" ], "HP:0031562": [ "balance double aortic arch", "balanced double aortic arch" ], "HP:0031563": [ "coronary arteriovenous fistula" ], "HP:0031564": [ "bronchial isomerism" ], "HP:0031565": [ "abdominal situs ambiguus" ], "HP:0031566": [ "abnormal pulmonary valve cusp morphology" ], "HP:0031567": [ "abnormal aortic valve cusp morphology" ], "HP:0031568": [ "thicken aortic valve cusp", "thickened aortic valve cusp" ], "HP:0031569": [ "absent aortic valve cusp", "absent aortic valve cusps", "absent aortic valve" ], "HP:0031570": [ "tessier number 0 facial cleft", "tessier facial cleft number 0" ], "HP:0031571": [ "paramedian facial cleft" ], "HP:0031572": [ "tessier number 1 facial cleft" ], "HP:0031573": [ "tessier number 2 facial cleft" ], "HP:0031574": [ "orbital cleft" ], "HP:0031575": [ "tessier number 3 facial cleft" ], "HP:0031576": [ "tessier number 4 facial cleft" ], "HP:0031577": [ "tessier number 5 facial cleft" ], "HP:0031578": [ "tessier number 6 facial cleft", "tessier facial cleft number 6" ], "HP:0031579": [ "tessier number 7 facial cleft", "tessier cleave number 7", "tessier cleft number 7", "tessier facial cleft number 7" ], "HP:0031580": [ "tessier number 8 facial cleft", "tessier facial cleft number 8" ], "HP:0031581": [ "tessier number 9 facial cleft" ], "HP:0031582": [ "tessier number 10 facial cleft" ], "HP:0031583": [ "tessier number 11 facial cleft" ], "HP:0031584": [ "tessier number 12 facial cleft" ], "HP:0031585": [ "tessier number 13 facial cleft" ], "HP:0031586": [ "tessier number 14 facial cleft", "tessier facial cleft number 14" ], "HP:0031587": [ "tessier number 30 facial cleft" ], "HP:0031588": [ "unhappy demeanor", "unhappy demeanour" ], "HP:0031589": [ "suicidal ideation", "suicidality" ], "HP:0031590": [ "asthenopia", "eye strain" ], "HP:0031591": [ "enlarge eustachian valve", "enlarged eustachian valve", "enlarge inferior vena cava valve", "enlarged inferior vena cava valve", "giant eustachian valve" ], "HP:0031592": [ "situs inversus with levocardia" ], "HP:0031593": [ "abnormal pr interval" ], "HP:0031594": [ "pr segment depression", "pr interval depression", "pta depression" ], "HP:0031595": [ "abnormal p wave" ], "HP:0031596": [ "abnormal pr segment" ], "HP:0031597": [ "pr segment elevation", "pr interval elevation", "pta elevation" ], "HP:0031598": [ "notch p wave", "notched p wave" ], "HP:0031599": [ "p mitrale" ], "HP:0031600": [ "p wave inversion" ], "HP:0031601": [ "p pulmonale" ], "HP:0031602": [ "abnormal mucociliary clearance", "abnormal mucociliary transport" ], "HP:0031603": [ "impaired nasal mucociliary clearance", "abnormal saccharine test" ], "HP:0031604": [ "agenesis of the carotid canal", "bony carotid canal agenesis" ], "HP:0031605": [ "abnormality of fundus pigmentation" ], "HP:0031606": [ "retinal cotton wool spot" ], "HP:0031607": [ "pelvic organ prolapse" ], "HP:0031609": [ "geographic atrophy" ], "HP:0031610": [ "recurrent shoulder dislocation", "multiple shoulder dislocation" ], "HP:0031611": [ "sub - inner limit membrane hemorrhage", "sub - inner limiting membrane hemorrhage", "sub - ilm haemorrhage", "sub - ilm hemorrhage", "sub - inner limit membrane haemorrhage", "sub - inner limiting membrane haemorrhage" ], "HP:0031613": [ "inferior chorioretinal coloboma" ], "HP:0031614": [ "inferior retinal coloboma" ], "HP:0031615": [ "hypopyon" ], "HP:0031616": [ "anterior chamber flare" ], "HP:0031618": [ "anterior chamber flare grade 1+" ], "HP:0031619": [ "anterior chamber flare grade 2+" ], "HP:0031620": [ "anterior chamber flare grade 3+" ], "HP:0031621": [ "anterior chamber flare grade 4+" ], "HP:0031622": [ "brown anomaly", "brown syndrome" ], "HP:0031623": [ "brow ptosis", "droop brow", "drooping brow" ], "HP:0031624": [ "moderate myopia" ], "HP:0031625": [ "pseudoaneurysm" ], "HP:0031626": [ "coronary ostial atresia", "atresia of coronary ostium" ], "HP:0031627": [ "globus pallidus calcification" ], "HP:0031628": [ "abort sudden cardiac death", "aborted sudden cardiac death", "sudden cardiac arrest" ], "HP:0031629": [ "impaired tandem gait", "clumsy tandem walking" ], "HP:0031630": [ "abnormal subpleural morphology" ], "HP:0031631": [ "subpleural honeycombing" ], "HP:0031632": [ "anomalous origin of the right subclavian artery from the descending aorta" ], "HP:0031633": [ "isolation of the left subclavian artery" ], "HP:0031634": [ "anomalous origin of the left common carotid artery from the main pulmonary artery" ], "HP:0031635": [ "anomalous origin of the left common carotid artery from the brachiocephalic artery", "anomalous origin of the left common carotid artery from the brachiocephalic trunk" ], "HP:0031636": [ "anomalous origin of the right common carotid artery from the aorta" ], "HP:0031637": [ "right coronary artery ostial atresia" ], "HP:0031638": [ "anomalous origin of the left anterior descend artery from the pulmonary artery", "anomalous origin of the left anterior descending artery from the pulmonary artery" ], "HP:0031639": [ "absent leave main coronary artery", "absent left main coronary artery", "absent lmca" ], "HP:0031640": [ "abnormal radial artery morphology" ], "HP:0031643": [ "fusiform ascend tubular aorta aneurysm", "fusiform ascending tubular aorta aneurysm" ], "HP:0031644": [ "fusiform abdominal aortic aneurysm" ], "HP:0031645": [ "saccular abdominal aortic aneurysm" ], "HP:0031646": [ "fusiform aortic arch aneurysm" ], "HP:0031647": [ "saccular aortic arch aneurysm" ], "HP:0031648": [ "penetrate aortic ulcer", "penetrating aortic ulcer" ], "HP:0031649": [ "aortic rupture" ], "HP:0031650": [ "abnormal atrioventricular valve physiology" ], "HP:0031651": [ "abnormal tricuspid valve physiology" ], "HP:0031652": [ "abnormal aortic valve physiology" ], "HP:0031653": [ "abnormal heart valve physiology" ], "HP:0031654": [ "abnormal pulmonary valve physiology" ], "HP:0031655": [ "quadricuspid aortic valve" ], "HP:0031656": [ "systolic anterior motion of the mitral valve" ], "HP:0031657": [ "abnormal heart sound" ], "HP:0031658": [ "third heart sound", "ventricular gallop" ], "HP:0031659": [ "fourth heart sound", "atrial gallop", "presystolic gallop" ], "HP:0031660": [ "loud first heart sound" ], "HP:0031661": [ "abnormal second heart sound" ], "HP:0031662": [ "fix splitting of the second heart sound", "fixed splitting of the second heart sound", "fix splitting of s2", "fixed splitting of s2" ], "HP:0031663": [ "paradoxical splitting of the second heart sound", "paradoxical splitting of s2", "reverse splitting of s2", "reversed splitting of s2", "reverse splitting of the second heart sound", "reversed splitting of the second heart sound" ], "HP:0031664": [ "systolic heart murmur" ], "HP:0031665": [ "midsystolic murmur" ], "HP:0031666": [ "late systolic murmur" ], "HP:0031667": [ "holosystolic murmur" ], "HP:0031668": [ "diastolic heart murmur" ], "HP:0031669": [ "middiastolic murmur" ], "HP:0031670": [ "continuous heart murmur" ], "HP:0031671": [ "typical atrial flutter" ], "HP:0031672": [ "reverse typical atrial flutter" ], "HP:0031673": [ "orthodromic atrioventricular reentrant tachycardia", "orthodromic avrt" ], "HP:0031674": [ "antidromic atrioventricular reentrant tachycardia", "antidromic avrt" ], "HP:0031675": [ "fascicular leave ventricular tachycardia", "fascicular left ventricular tachycardia" ], "HP:0031676": [ "monomorphic ventricular tachycardia" ], "HP:0031677": [ "polymorphic ventricular tachycardia" ], "HP:0031678": [ "atherosclerotic lesion" ], "HP:0031679": [ "type i atherosclerotic lesion" ], "HP:0031680": [ "type ii atherosclerotic lesion" ], "HP:0031681": [ "type iii atherosclerotic lesion" ], "HP:0031682": [ "type v atherosclerotic lesion" ], "HP:0031683": [ "type vi atherosclerotic lesion" ], "HP:0031684": [ "renal artery atherosclerosis" ], "HP:0031685": [ "abnormal stool composition", "abnormal faeces composition", "abnormal fecal test result", "abnormal feces composition", "obsolete abnormal fecal test result" ], "HP:0032483": [ "abnormal stool composition", "abnormal faeces composition", "abnormal fecal test result", "abnormal feces composition", "obsolete abnormal fecal test result" ], "HP:0031686": [ "increase stool alpha1 - antitrypsin concentration", "increased stool alpha1 - antitrypsin concentration" ], "HP:0031687": [ "abnormally loud pulmonic component of the second heart sound", "accentuation of the pulmonic component of the second heart sound" ], "HP:0031688": [ "erythroid dysplasia" ], "HP:0031689": [ "megakaryocyte dysplasia", "dysmegakaryopoiesis" ], "HP:0031690": [ "opportunistic infection" ], "HP:0031691": [ "severe viral infection" ], "HP:0031692": [ "severe cytomegalovirus infection" ], "HP:0031693": [ "severe epstein barr virus infection", "fulminant infectious mononucleosis", "severe ebv infection" ], "HP:0031694": [ "severe adenovirus infection" ], "HP:0031695": [ "severe parainfluenza infection" ], "HP:0031696": [ "disseminate viral infection", "disseminated viral infection" ], "HP:0031697": [ "disseminate infection with live vaccine virus", "disseminated infection with live vaccine virus" ], "HP:0031699": [ "disseminated cryptosporidium infection" ], "HP:0031700": [ "invasive parasitic infection" ], "HP:0031701": [ "anterior chamber inflammatory cell", "anterior chamber inflammatory cells" ], "HP:0031702": [ "anterior chamber red blood cell", "anterior chamber red blood cells", "anterior chamber rbc", "anterior chamber rbcs" ], "HP:0031703": [ "abnormal ear morphology" ], "HP:0031704": [ "abnormal ear physiology" ], "HP:0031705": [ "compensatory head posture" ], "HP:0031706": [ "compensatory chin depression" ], "HP:0031707": [ "compensatory face turn to the right" ], "HP:0031708": [ "compensatory face turn to the left" ], "HP:0031709": [ "compensatory head tilt to the right shoulder" ], "HP:0031710": [ "compensatory head tilt to the left shoulder" ], "HP:0031711": [ "asymmetric abdominal aortic aneurysm" ], "HP:0031713": [ "constant exotropia" ], "HP:0031714": [ "distance exotropia" ], "HP:0031715": [ "near exotropia" ], "HP:0031716": [ "cyclic exotropia" ], "HP:0031717": [ "alternate exotropia", "alternating exotropia", "alternate strabismus", "alternating strabismus" ], "HP:0031718": [ "consecutive exotropia" ], "HP:0031719": [ "true distance exotropia" ], "HP:0031720": [ "simulated distance exotropia" ], "HP:0031721": [ "sensory exotropia", "secondary exotropia" ], "HP:0031722": [ "near esotropia", "non - accomodative convergence excess esotropia" ], "HP:0031723": [ "secondary esotropia", "sensory esotropia" ], "HP:0031724": [ "microtropia" ], "HP:0031725": [ "hypophoria" ], "HP:0031726": [ "incyclotropia" ], "HP:0031727": [ "excyclotropia" ], "HP:0031728": [ "mild hypermetropia", "mild hyperopia" ], "HP:0031729": [ "moderate hypermetropia", "moderate hyperopia" ], "HP:0031730": [ "axial myopia" ], "HP:0031731": [ "increase tear production", "increased tear production" ], "HP:0031732": [ "increase basal tear production", "increased basal tear production" ], "HP:0031733": [ "reflex tear", "reflex tearing" ], "HP:0031734": [ "lacrimal pump failure" ], "HP:0031736": [ "involutional entropion" ], "HP:0031737": [ "cicatricial entropion" ], "HP:0031738": [ "mechanical entropion" ], "HP:0031739": [ "abnormal oblique muscle physiology" ], "HP:0031740": [ "abnormal horizontal rectus muscle physiology" ], "HP:0031741": [ "inferior oblique muscle underaction" ], "HP:0031742": [ "inferior rectus muscle underaction" ], "HP:0031743": [ "inferior rectus muscle overaction" ], "HP:0031744": [ "superior rectus muscle weakness" ], "HP:0031745": [ "superior rectus muscle overaction" ], "HP:0031746": [ "superior rectus muscle restriction" ], "HP:0031747": [ "superior rectus muscle underaction" ], "HP:0031748": [ "abnormal vertical rectus muscle physiology" ], "HP:0031749": [ "abnormal lateral rectus muscle physiology" ], "HP:0031750": [ "lateral rectus muscle weakness" ], "HP:0031751": [ "lateral rectus muscle underaction" ], "HP:0031752": [ "lateral rectus muscle overaction" ], "HP:0031753": [ "medial rectus muscle weakness" ], "HP:0031754": [ "medial rectus muscle overaction" ], "HP:0031755": [ "abnormal rectus muscle physiology" ], "HP:0031756": [ "medial rectus muscle underaction" ], "HP:0031757": [ "medial rectus muscle restriction" ], "HP:0031758": [ "lateral rectus muscle restriction" ], "HP:0031759": [ "basic constant esotropia", "basic ( constant ) esotropia" ], "HP:0031760": [ "non - accomodative esotropia" ], "HP:0031761": [ "infantile constant esotropia", "infantile ( constant ) esotropia" ], "HP:0031762": [ "distance esotropia", "divergence insufficiency" ], "HP:0031763": [ "cyclic esotropia" ], "HP:0031764": [ "fully accomodative esotropia" ], "HP:0031765": [ "partially accomodative esotropia", "constant esotropia with an accommodative component", "constant esotropia with an accommodative element" ], "HP:0031766": [ "convergence excess esotropia" ], "HP:0031767": [ "consecutive esotropia" ], "HP:0031768": [ "parafoveal fixation" ], "HP:0031769": [ "peripheral fixation" ], "HP:0031770": [ "epicanthus palpebralis" ], "HP:0031771": [ "epicanthus tarsalis" ], "HP:0031772": [ "abnormal posterior circulate artery morphology", "abnormal posterior circulating artery morphology" ], "HP:0031773": [ "posterior communicate artery aneurysm", "posterior communicating artery aneurysm" ], "HP:0031774": [ "posterior communicate artery infundibulum", "posterior communicating artery infundibulum" ], "HP:0031775": [ "neurogenic strabismus", "paralytic strabismus" ], "HP:0031776": [ "cyclotropia" ], "HP:0031777": [ "cyclophoria" ], "HP:0031778": [ "incyclophoria" ], "HP:0031779": [ "excyclophoria" ], "HP:0031780": [ "eosinophilic ascites" ], "HP:0031781": [ "microtropia with identity" ], "HP:0031782": [ "microtropia without identity" ], "HP:0031783": [ "absent coronary sinus" ], "HP:0031784": [ "abnormal ascend aorta morphology", "abnormal ascending aorta morphology" ], "HP:0031785": [ "abnormal eyelid movement" ], "HP:0031786": [ "cogan lid twitch", "cogan eyelid twitch", "eyelid twitch", "lid twitch" ], "HP:0031787": [ "oblique astigmatism" ], "HP:0031788": [ "with the rule astigmatism" ], "HP:0031789": [ "against the rule astigmatism" ], "HP:0031790": [ "mixed astigmatism" ], "HP:0031791": [ "lenticular astigmatism" ], "HP:0031792": [ "irregular astigmatism" ], "HP:0031793": [ "increase serum leptin", "increased serum leptin", "elevate circulate leptin level", "elevated circulating leptin level" ], "HP:0031794": [ "decrease circulate glycerol level", "decreased circulating glycerol level" ], "HP:0031795": [ "abnormal circulate glycerol level", "abnormal circulating glycerol level" ], "HP:0031796": [ "recurrent", "intermittent" ], "HP:0031797": [ "clinical course", "natural history of disease" ], "HP:0031798": [ "elevate circulate apolipoprotein b concentration", "elevated circulating apolipoprotein b concentration", "elevate apob level", "elevated apob level", "elevate apolipoprotein b level", "elevated apolipoprotein b level" ], "HP:0031799": [ "decrease circulate apolipoprotein ai concentration", "decreased circulating apolipoprotein ai concentration", "decrease apo - ai level", "decreased apo - ai level", "decrease apoa - i level", "decreased apoa - i level", "decrease apolipoprotein ai level", "decreased apolipoprotein ai level" ], "HP:0031800": [ "elevate circulate apolipoprotein a - ii concentration", "elevated circulating apolipoprotein a - ii concentration", "elevate apo - aii level", "elevated apo - aii level", "elevate apoa - ii level", "elevated apoa - ii level", "elevate apoaii level", "elevated apoaii level", "elevate apolipoprotein a - ii level", "elevated apolipoprotein a - ii level" ], "HP:0031801": [ "vocal cord dysfunction" ], "HP:0031803": [ "fundus hemorrhage", "fundus haemorrhage" ], "HP:0031804": [ "premacular hemorrhage", "premacular haemorrhage" ], "HP:0031805": [ "intraretinal hemorrhage", "intraretinal haemorrhage" ], "HP:0031806": [ "abnormal basophil count" ], "HP:0031807": [ "increase basophil count", "increased basophil count", "basophilia" ], "HP:0031808": [ "decrease basophil count", "decreased basophil count" ], "HP:0031809": [ "archibald 's sign", "archibald 's metacarpal sign", "knuckle dimple" ], "HP:0031810": [ "anti - ganglioside antibody positivity" ], "HP:0031811": [ "bilirubinuria" ], "HP:0031812": [ "nitrituria" ], "HP:0031813": [ "colonic eosinophilia", "eosinophilic colitis", "eosinophilic infiltration in the colon" ], "HP:0031814": [ "palilalia" ], "HP:0031815": [ "abnormal oral physiology" ], "HP:0031816": [ "abnormal oral morphology" ], "HP:0031817": [ "decrease circulate parathyroid hormone level", "decreased circulating parathyroid hormone level", "decrease circulate pth level", "decreased circulating pth level", "decrease serum parathyroid hormone", "decreased serum parathyroid hormone", "decrease serum parathyroid hormone level", "decreased serum parathyroid hormone level", "decrease serum pth", "decreased serum pth" ], "HP:0031818": [ "abnormal waist to hip ratio" ], "HP:0031819": [ "increase waist to hip ratio", "increased waist to hip ratio", "increase waist - hip ratio", "increased waist - hip ratio", "increase waist - to - hip ratio", "increased waist - to - hip ratio", "increase whr", "increased whr" ], "HP:0031820": [ "decrease waist to hip ratio", "decreased waist to hip ratio", "decrease waist - hip ratio", "decreased waist - hip ratio", "decrease waist - to - hip ratio", "decreased waist - to - hip ratio", "decrease whr", "decreased whr" ], "HP:0031821": [ "abnormal hypoxanthine - guanine phosphoribosyltransferase level", "abnormal 6 - hydroxypurine phosphoribosyltransferase level", "abnormal gmp pyrophosphorylase level", "abnormal gprt level" ], "HP:0031822": [ "elevate hypoxanthine - guanine phosphoribosyltransferase level", "elevated hypoxanthine - guanine phosphoribosyltransferase level", "elevate 6 - hydroxypurine phosphoribosyltransferase level", "elevated 6 - hydroxypurine phosphoribosyltransferase level", "elevate 6 - mercaptopurine phosphoribosyltransferase level", "elevated 6 - mercaptopurine phosphoribosyltransferase level", "elevate gmp pyrophosphorylase level", "elevated gmp pyrophosphorylase level" ], "HP:0031823": [ "reduce hypoxanthine - guanine phosphoribosyltransferase level", "reduced hypoxanthine - guanine phosphoribosyltransferase level", "reduce 6 - hydroxypurine phosphoribosyltransferase level", "reduced 6 - hydroxypurine phosphoribosyltransferase level", "reduce 6 - mercaptopurine phosphoribosyltransferase level", "reduced 6 - mercaptopurine phosphoribosyltransferase level", "reduce gmp pyrophosphorylase level", "reduced gmp pyrophosphorylase level" ], "HP:0031824": [ "hepatic mastocytosis" ], "HP:0031825": [ "freezing of gait", "freeze gait", "freezing gait" ], "HP:0031826": [ "abnormal reflex" ], "HP:0031827": [ "absent abdominal reflex", "abdominal reflex absent" ], "HP:0031828": [ "abnormal superficial reflex" ], "HP:0031829": [ "absent cremaster reflex", "absent cremasteric reflex" ], "HP:0031830": [ "pinguecula" ], "HP:0031831": [ "decrease serum zinc", "decreased serum zinc" ], "HP:0031832": [ "hypermetric downward saccade", "hypermetric downward saccades" ], "HP:0031833": [ "hypometric upward saccade", "hypometric upward saccades" ], "HP:0031834": [ "aortopulmonary collateral artery", "aortopulmonary collateral arteries" ], "HP:0031835": [ "abnormal superoxide dismutase level", "abnormal superoxide : superoxide oxidoreductase activity" ], "HP:0031836": [ "increase superoxide dismutase level", "increased superoxide dismutase level", "increase superoxide : superoxide oxidoreductase activity", "increased superoxide : superoxide oxidoreductase activity" ], "HP:0031837": [ "decrease superoxide dismutase level", "decreased superoxide dismutase level", "decrease superoxide : superoxide oxidoreductase activity", "decreased superoxide : superoxide oxidoreductase activity" ], "HP:0031838": [ "presence of xenobiotic" ], "HP:0031840": [ "urine xenobiotic" ], "HP:0031841": [ "positive urine methadone test" ], "HP:0031842": [ "lymphangiectasis", "lymphangiectasia" ], "HP:0031843": [ "bradyphrenia", "mental slowness", "slow thinking", "slowed thinking", "slow thought", "slowed thoughts", "slowness of thought" ], "HP:0031844": [ "euphoria" ], "HP:0031845": [ "abnormal libido" ], "HP:0031846": [ "femur fracture", "femoral fracture" ], "HP:0031847": [ "difficulty walk backward", "difficulty walking backward" ], "HP:0031848": [ "cock - walk gait" ], "HP:0031849": [ "sleep - wake inversion" ], "HP:0031850": [ "abnormal hematocrit", "abnormal hct" ], "HP:0031851": [ "reduce hematocrit", "reduced hematocrit", "low hematocrit", "reduce hct", "reduced hct" ], "HP:0031853": [ "isomerism" ], "HP:0031854": [ "leave isomerism", "left isomerism", "left - side isomerism", "left - sided isomerism" ], "HP:0031855": [ "right isomerism", "right - side isomerism", "right - sided isomerism" ], "HP:0031856": [ "hobby horse gait" ], "HP:0031857": [ "ineffective esophageal peristalsis", "ineffective esophageal motility" ], "HP:0031858": [ "esophageal furrow", "esophageal furrows" ], "HP:0031860": [ "abnormal heart rate variability" ], "HP:0031861": [ "decreased heart rate variability", "reduce heart rate variability", "reduced heart rate variability" ], "HP:0031862": [ "increase heart rate variability", "increased heart rate variability" ], "HP:0031863": [ "bloodstream infectious agent" ], "HP:0031864": [ "bacteremia" ], "HP:0031865": [ "abnormal liver physiology", "abnormal hepatic physiology" ], "HP:0031866": [ "clasp - knife sign" ], "HP:0031867": [ "neck hypertonia" ], "HP:0031868": [ "optic ataxia" ], "HP:0031869": [ "recurrent joint dislocation" ], "HP:0031870": [ "phosphohydroxylysinuria" ], "HP:0031871": [ "abnormal langerhans cell morphology" ], "HP:0031872": [ "absent birbeck granule in langerhans cell", "absent birbeck granules in langerhans cells" ], "HP:0031873": [ "early chronotype", "early sleep onset" ], "HP:0031874": [ "late chronotype", "late sleep onset" ], "HP:0031875": [ "abnormal hepcidin level" ], "HP:0031876": [ "decrease hepcidin level", "decreased hepcidin level" ], "HP:0031877": [ "elevate hepcidin level", "elevated hepcidin level" ], "HP:0031878": [ "acromicria" ], "HP:0031879": [ "abnormal eyelid physiology" ], "HP:0031880": [ "eyelid laxity", "lid laxity" ], "HP:0031881": [ "decrease tear drainage", "decreased tear drainage" ], "HP:0031882": [ "agyria", "agyria diffuse" ], "HP:0031883": [ "increase proinsulin : insulin ratio", "increased proinsulin : insulin ratio" ], "HP:0031884": [ "abnormal csf glucose level" ], "HP:0031885": [ "hyperglycorrhachia", "increase csf glucose", "increased csf glucose" ], "HP:0031886": [ "abnormal ldl cholesterol concentration", "abnormal ldl - c concentration", "abnormal ldl - c level", "abnormal ldlc concentration" ], "HP:0031887": [ "abnormal chylomicron concentration" ], "HP:0031888": [ "abnormal hdl cholesterol concentration" ], "HP:0031889": [ "abnormal vldl cholesterol concentration" ], "HP:0031890": [ "increase urine urobilinogen", "increased urine urobilinogen" ], "HP:0031891": [ "decrease eosinophil count", "decreased eosinophil count" ], "HP:0031898": [ "rouleau formation", "rouleaux formation", "increase rouleau formation", "increased rouleaux formation" ], "HP:0031899": [ "abnormal coagulation factor v activity", "abnormal factor v activity" ], "HP:0031900": [ "obsolete abnormal serum tryptase concentration", "elevate total serum tryptase", "elevated total serum tryptase" ], "HP:0031901": [ "obsolete abnormal serum tryptase concentration", "elevate total serum tryptase", "elevated total serum tryptase" ], "HP:0031902": [ "obsolete decrease serum mast cell beta - tryptase concentration", "obsolete decreased serum mast cell beta - tryptase concentration" ], "HP:0031903": [ "abnormal circulate selenium concentration", "abnormal circulating selenium concentration", "abnormal serum selenium concentration" ], "HP:0031904": [ "abnormal total hemolytic complement activity", "abnormal ch50" ], "HP:0031905": [ "increase total hemolytic complement activity", "increased total hemolytic complement activity" ], "HP:0031906": [ "decrease total hemolytic complement activity", "decreased total hemolytic complement activity" ], "HP:0031907": [ "anti - mitochondrial m2 antibody positivity", "ama - m2 positive", "anti - pyruvate dehydrogenase antibody positivity" ], "HP:0031908": [ "micrographia" ], "HP:0031909": [ "unicornuate uterus" ], "HP:0031910": [ "abnormal cranial nerve physiology" ], "HP:0031911": [ "abnormal fifth cranial nerve physiology" ], "HP:0031912": [ "trigeminal anesthesia", "trigeminal anaesthesia" ], "HP:0031913": [ "rhombencephalosynapsis" ], "HP:0031914": [ "fluctuate", "fluctuating" ], "HP:0031915": [ "stable" ], "HP:0031917": [ "digital ulcer" ], "HP:0031918": [ "ovarian sex cord - stromal tumor", "ovarian sex cord - stromal tumour" ], "HP:0031919": [ "juvenile type ovarian granulosa cell tumor", "juvenile type ovarian granulosa cell tumour", "ovarian juvenile granulosa cell tumor", "ovarian juvenile granulosa cell tumour" ], "HP:0031920": [ "malignant ovarian granulosa cell tumor", "malignant ovarian granulosa cell tumour" ], "HP:0031921": [ "gastrocnemius myalgia", "calf muscle pain", "calf myalgia" ], "HP:0031922": [ "renal artery duplication", "accessory renal artery", "double renal artery" ], "HP:0031923": [ "hematocolpos", "haematocolpos" ], "HP:0031924": [ "rope sign" ], "HP:0031925": [ "rosette" ], "HP:0031926": [ "homer wright rosette" ], "HP:0031927": [ "flexner - wintersteiner rosette" ], "HP:0031928": [ "true ependymal rosette" ], "HP:0031929": [ "perivascular pseudorosette" ], "HP:0031930": [ "neurocytic rosette", "pineocytomatous rosette" ], "HP:0031931": [ "ocular flutter" ], "HP:0031932": [ "aorto - leave ventricular tunnel", "aorto - left ventricular tunnel", "left ventricle to aorta tunnel" ], "HP:0031933": [ "aorto - right ventricular tunnel", "right ventricle to aorta tunnel" ], "HP:0031934": [ "abnormal descend aorta morphology", "abnormal descending aorta morphology" ], "HP:0031935": [ "ascend aorta hypoplasia", "ascending aorta hypoplasia" ], "HP:0031936": [ "delay ability to walk", "delayed ability to walk", "delay walking", "delayed walking" ], "HP:0031937": [ "tachylalia", "tachylogia" ], "HP:0031938": [ "abnormal conus terminalis morphology", "abnormal conus medullaris morphology" ], "HP:0031939": [ "conus terminalis arteriovenous malformation" ], "HP:0031941": [ "abnormal portal venous system morphology" ], "HP:0031942": [ "congenital absence of portal vein", "miss portal vein", "missing portal vein" ], "HP:0031943": [ "akathisia" ], "HP:0031944": [ "pleural thickening", "pleural incrassation" ], "HP:0031945": [ "elevate circulate n , n - dimethylglycine concentration", "elevated circulating n , n - dimethylglycine concentration", "elevate n , n - dimethylglycine level", "elevated n , n - dimethylglycine level" ], "HP:0031946": [ "elevate urinary n , n - dimethylglycine level", "elevated urinary n , n - dimethylglycine level" ], "HP:0031947": [ "tongue tremor", "jerky movement of the tongue", "jerky movements of the tongue" ], "HP:0031948": [ "snowball lesion of corpus callosum" ], "HP:0031949": [ "recurrent bacterial upper respiratory tract infection", "recurrent bacterial upper respiratory tract infections", "recurrent bacterial uri" ], "HP:0031950": [ "usual interstitial pneumonia" ], "HP:0031951": [ "nocturnal seizure", "nocturnal seizures", "sleep seizure", "sleep seizures" ], "HP:0031952": [ "neurogenic claudication" ], "HP:0031953": [ "cautious gait", "senile gait" ], "HP:0031954": [ "dystonic gait" ], "HP:0031955": [ "antalgic gait", "limp" ], "HP:0031956": [ "elevate circulate aspartate aminotransferase concentration", "elevated circulating aspartate aminotransferase concentration", "aspartate aminotransferase increase", "aspartate aminotransferase increased", "elevate serum aspartate aminotransferase", "elevated serum aspartate aminotransferase", "elevate serum ast", "elevated serum ast", "elevate serum glutamic oxaloacetic transaminase", "elevated serum glutamic oxaloacetic transaminase" ], "HP:0031957": [ "spastic hemiparetic gait", "wernicke - mann gait" ], "HP:0031958": [ "spastic paraparetic gait" ], "HP:0031959": [ "leg dystonia" ], "HP:0031960": [ "arm dystonia" ], "HP:0031961": [ "abnormal serum anion gap" ], "HP:0031962": [ "elevate serum anion gap", "elevated serum anion gap" ], "HP:0031963": [ "decrease serum anion gap", "decreased serum anion gap" ], "HP:0031964": [ "elevate circulate alanine aminotransferase concentration", "elevated circulating alanine aminotransferase concentration", "alanine aminotransferase increase", "alanine aminotransferase increased", "elevate serum alanine aminotransferase", "elevated serum alanine aminotransferase", "elevate serum alt", "elevated serum alt", "elevate serum glutamic - pyruvic transaminase", "elevated serum glutamic - pyruvic transaminase" ], "HP:0031965": [ "increase rbc distribution width", "increased rbc distribution width", "increase red blood cell distribution width", "increased red blood cell distribution width" ], "HP:0031967": [ "cloudy urine", "turbid urine" ], "HP:0031969": [ "reduce blood urea nitrogen", "reduced blood urea nitrogen", "reduce bun", "reduced bun" ], "HP:0031970": [ "abnormal blood urea nitrogen concentration", "abnormal bun concentration" ], "HP:0031971": [ "subaortic ventricular septal bulge" ], "HP:0031972": [ "presyncope" ], "HP:0031973": [ "increased vertical cup - to - disc ratio" ], "HP:0031974": [ "increased vertical cup - to - disc ratio - 0.6" ], "HP:0031975": [ "increased vertical cup - to - disc ratio - 0.7" ], "HP:0031976": [ "increased vertical cup - to - disc ratio - 0.8" ], "HP:0031977": [ "increased vertical cup - to - disc ratio - 0.9" ], "HP:0031978": [ "increased vertical cup - to - disc ratio - 1.0" ], "HP:0031979": [ "abnormal urine carbohydrate level" ], "HP:0031980": [ "abnormal urine carboxylic acid level" ], "HP:0031981": [ "elevate urine glycolate", "elevated urine glycolate" ], "HP:0031982": [ "abnormal putamen morphology" ], "HP:0031983": [ "abnormal pulmonary thoracic image find", "abnormal pulmonary thoracic imaging finding", "abnormal chest radiograph finding ( lung )" ], "HP:0031984": [ "esophageal food impaction" ], "HP:0031985": [ "esophageal exudate" ], "HP:0031986": [ "polyminimyoclonus" ], "HP:0031987": [ "diminish ability to concentrate", "diminished ability to concentrate", "concentration problem", "concentration problems", "lack of concentration", "poor concentration" ], "HP:0031989": [ "perioral spasm" ], "HP:0031990": [ "chvostek sign" ], "HP:0031991": [ "increase urinary excretion of galactosyl hydroxylysine", "increased urinary excretion of galactosyl hydroxylysine" ], "HP:0031992": [ "apical hypertrophic cardiomyopathy" ], "HP:0031993": [ "hoffmann sign" ], "HP:0031994": [ "bronchial breath sound" ], "HP:0031995": [ "squawk", "squawks" ], "HP:0031996": [ "inspiratory crackle", "inspiratory crackles" ], "HP:0031997": [ "early inspiratory crackle", "early inspiratory crackles" ], "HP:0031998": [ "late inspiratory crackle", "late inspiratory crackles" ], "HP:0031999": [ "expiratory crackle", "expiratory crackles" ], "HP:0032000": [ "pleural rub" ], "HP:0032001": [ "pink urine" ], "HP:0032002": [ "orange urine" ], "HP:0032003": [ "green urine" ], "HP:0032004": [ "pruritus vulva", "pruritus vulvae" ], "HP:0032005": [ "hemidystonia" ], "HP:0032006": [ "lip tremor" ], "HP:0032007": [ "maceration", "maceration of the skin", "skin maceration" ], "HP:0032008": [ "pulmonary fat embolism", "fat embolism" ], "HP:0032009": [ "infantile constant exotropia", "infantile ( constant ) exotropia" ], "HP:0032010": [ "basic constant exotropia", "basic ( constant ) exotropia" ], "HP:0032011": [ "heterophoria" ], "HP:0032012": [ "heterotropia" ], "HP:0032013": [ "hypermetric horizontal saccade", "hypermetric horizontal saccades" ], "HP:0032014": [ "dysmetric vertical saccade", "dysmetric vertical saccades" ], "HP:0032015": [ "dysmetric horizontal saccade", "dysmetric horizontal saccades" ], "HP:0032016": [ "abnormal sputum", "abnormal sputum morphology" ], "HP:0032017": [ "sputum eosinophilia" ], "HP:0032018": [ "multiple mononeuropathy", "mononeuritis multiplex" ], "HP:0032019": [ "muscle eosinophilia", "eosinophilic infiltration of skeletal muscle" ], "HP:0032020": [ "eosinophilic bladder infiltration", "eosinophilic cystitis" ], "HP:0032021": [ "eosinophilic liver infiltration", "eosinophilic hepatitis" ], "HP:0032022": [ "eosinophilic dermal infiltration", "eosinophilic dermatitis" ], "HP:0032023": [ "eosinophilic gallbladder infiltration", "eosinophilic cholecystitis" ], "HP:0032024": [ "ileal ulcer" ], "HP:0032025": [ "reduce serum alpha - 1 - antitrypsin", "reduced serum alpha - 1 - antitrypsin" ], "HP:0032026": [ "anetoderma" ], "HP:0032027": [ "retinal dot", "retinal dots" ], "HP:0032028": [ "macular dot", "macular dots" ], "HP:0032029": [ "floppy eyelid" ], "HP:0032030": [ "lateral canthal tendon laxity" ], "HP:0032031": [ "medial canthal tendon laxity" ], "HP:0032032": [ "horizontal eyelid laxity" ], "HP:0032033": [ "vertical eyelid laxity" ], "HP:0032034": [ "upper eyelid laxity" ], "HP:0032035": [ "low eyelid laxity", "lower eyelid laxity" ], "HP:0032036": [ "abnormal contrast sensitivity" ], "HP:0032037": [ "mildly reduce visual acuity", "mildly reduced visual acuity", "mild reduction in visual acuity", "mild vision loss", "mild visual loss" ], "HP:0032039": [ "abnormality of the ocular adnexa" ], "HP:0032040": [ "abnormal ocular adnexa physiology" ], "HP:0032041": [ "vocal cord polyp" ], "HP:0032043": [ "odynophagia", "painful swallowing" ], "HP:0032044": [ "decrease vigilance", "decreased vigilance" ], "HP:0032045": [ "hypoplastic carotid canal" ], "HP:0032046": [ "focal cortical dysplasia" ], "HP:0032047": [ "focal cortical dysplasia type i" ], "HP:0032048": [ "focal cortical dysplasia type ia" ], "HP:0032049": [ "focal cortical dysplasia type ib" ], "HP:0032050": [ "focal cortical dysplasia type ic" ], "HP:0032051": [ "focal cortical dysplasia type ii" ], "HP:0032052": [ "focal cortical dysplasia type iia" ], "HP:0032053": [ "focal cortical dysplasia type iib" ], "HP:0032054": [ "focal cortical dysplasia type iii" ], "HP:0032055": [ "focal cortical dysplasia type iiia" ], "HP:0032056": [ "focal cortical dysplasia type iiib" ], "HP:0032057": [ "focal cortical dysplasia type iiic" ], "HP:0032058": [ "focal cortical dysplasia type iiid" ], "HP:0032059": [ "mild malformation of cortical development" ], "HP:0032060": [ "epithelioid hemangioma", "angiolymphoid hyperplasia with eosinophilia" ], "HP:0032061": [ "hypereosinophilia" ], "HP:0032062": [ "mallory - wei tear", "mallory - weiss tear" ], "HP:0032063": [ "ankle joint effusion" ], "HP:0032064": [ "gastrointestinal eosinophilia", "eosinophilic enteritis", "eosinophilic gastroenteritis", "eosinophilic gastrointestinal disease", "eosinophilic gastrointestinal disorder", "eosinophilic gastrointestinal disorders", "gi eosinophilia" ], "HP:0032065": [ "abnormal serum bicarbonate concentration", "abnormal serum hco3 concentration" ], "HP:0032066": [ "decrease serum bicarbonate concentration", "decreased serum bicarbonate concentration", "decrease serum hco3 concentration", "decreased serum hco3 concentration" ], "HP:0032067": [ "elevate serum bicarbonate concentration", "elevated serum bicarbonate concentration", "elevate serum hco3 concentration", "elevated serum hco3 concentration" ], "HP:0032068": [ "increase urinary mucus", "increased urinary mucus" ], "HP:0032069": [ "anti - thyroglobulin antibody positivity" ], "HP:0032070": [ "leptomeningeal enhancement" ], "HP:0032071": [ "eosinophilic pneumonia", "eosinophilic pulmonary infiltration", "pulmonary eosinophilia", "pulmonary eosinophilic infiltrate", "pulmonary eosinophilic infiltration" ], "HP:0032072": [ "popliteal synovial cyst", "baker 's cyst" ], "HP:0032073": [ "aplasia of the fallopian tube" ], "HP:0032075": [ "splenopancreatic fusion" ], "HP:0032076": [ "abnormal male urethral meatus morphology" ], "HP:0032077": [ "male urethral meatus stenosis", "meatal stenosis", "meatus stenosis" ], "HP:0032078": [ "angel - shape phalanx", "angel - shaped phalanx" ], "HP:0032079": [ "medial degeneration" ], "HP:0032081": [ "intralamellar mucoid extracellular matrix accumulation" ], "HP:0032082": [ "translamellar mucoid extracellular matrix accumulation" ], "HP:0032083": [ "aortic elastic fiber fragmentation", "aortic elastic fibre fragmentation" ], "HP:0032084": [ "aortic elastic fiber thinning", "aortic elastic fibre thin", "aortic elastic fibre thinning" ], "HP:0032085": [ "aortic elastic fiber disorganization", "aortic elastic fibre disorganisation" ], "HP:0032086": [ "aortic smooth muscle cell nuclei loss" ], "HP:0032087": [ "aortic laminar medial collapse" ], "HP:0032088": [ "aortic smooth muscle cell disorganization", "aortic smooth muscle cell disorganisation" ], "HP:0032089": [ "aortic medial fibrosis" ], "HP:0032090": [ "intralamellar aortic medial fibrosis" ], "HP:0032091": [ "translamellar aortic medial fibrosis" ], "HP:0032092": [ "leave ventricular outflow tract obstruction", "left ventricular outflow tract obstruction" ], "HP:0032094": [ "increase circulate surfactant protein level", "increased circulating surfactant protein level", "increase serum surfactant protein level", "increased serum surfactant protein level" ], "HP:0032096": [ "abnormal manganese concentration" ], "HP:0032097": [ "hypermanganesemia", "increase blood manganese concentration", "increased blood manganese concentration" ], "HP:0032098": [ "hypomanganesemia" ], "HP:0032099": [ "perioral radial furrowing" ], "HP:0032100": [ "abnormal doll 's eye reflex" ], "HP:0032101": [ "unusual infection" ], "HP:0032102": [ "wilson sign" ], "HP:0032104": [ "saccadic oscillation", "saccadic oscillations" ], "HP:0032105": [ "macrosaccadic oscillation", "macrosaccadic oscillations", "obsolete macrosaccadic oscillation" ], "HP:0032117": [ "macrosaccadic oscillation", "macrosaccadic oscillations", "obsolete macrosaccadic oscillation" ], "HP:0032106": [ "conjunctival icterus", "scleral icterus", "yellow conjunctiva", "yellow sclera", "yellowing of the white of the eye", "yellowing of the whites of the eyes" ], "HP:0032107": [ "limbal stem cell deficiency" ], "HP:0032108": [ "mildly reduce contrast sensitivity", "mildly reduced contrast sensitivity", "mild reduction in contrast sensitivity" ], "HP:0032109": [ "moderately reduce contrast sensitivity", "moderately reduced contrast sensitivity", "moderate reduction in contrast sensitivity" ], "HP:0032110": [ "severely reduce contrast sensitivity", "severely reduced contrast sensitivity" ], "HP:0032111": [ "abnormal vistech contrast sensitivity test" ], "HP:0032112": [ "abnormal pelli robson contrast sensitivity chart test" ], "HP:0032113": [ "semidominant mode of inheritance" ], "HP:0032114": [ "saccadic intrusion" ], "HP:0032116": [ "macrosquare - wave jerk", "macrosquare - wave jerks" ], "HP:0032118": [ "retinitis" ], "HP:0032119": [ "narrow angle glaucoma" ], "HP:0032120": [ "abnormal peripheral nervous system physiology" ], "HP:0032121": [ "froment sign", "froment thumb sign" ], "HP:0032122": [ "very low visual acuity" ], "HP:0032123": [ "ultra - low vision" ], "HP:0032124": [ "abnormal proportion of unswitched memory b cell", "abnormal proportion of unswitched memory b cells", "abnormal proportion of non - class - switched memory b cell", "abnormal proportion of non - class - switched memory b cells" ], "HP:0032125": [ "increase proportion of unswitched memory b cell", "increased proportion of unswitched memory b cells", "elevate proportion of unswitched memory b cell", "elevated proportion of unswitched memory b cells", "increase proportion of non - class - switched memory b cell", "increased proportion of non - class - switched memory b cells" ], "HP:0032126": [ "decreased proportion of unswitched memory b cell", "decreased proportion of unswitched memory b cells", "decreased proportion of non - class - switched memory b cell", "decreased proportion of non - class - switched memory b cells", "reduce proportion of unswitched memory b cell", "reduced proportion of unswitched memory b cells" ], "HP:0032127": [ "abnormal plasmablast proportion" ], "HP:0032128": [ "increase proportion of plasmablast", "increased proportion of plasmablasts" ], "HP:0032129": [ "decreased proportion of plasmablast", "decreased proportion of plasmablasts" ], "HP:0032130": [ "mycobacterium abscessus abscessus infection" ], "HP:0032131": [ "cervical dysplasia" ], "HP:0032132": [ "decrease circulate total igg", "decreased circulating total igg" ], "HP:0032133": [ "transient decrease circulate total igg", "transient decreased circulating total igg" ], "HP:0032134": [ "chronic decrease circulate total igg", "chronic decreased circulating total igg", "chronic decrease total igg in blood", "chronic decreased total igg in blood" ], "HP:0032135": [ "decrease circulate igg subclass level", "decreased circulating igg subclass level", "decrease igg subclass level in blood", "decreased igg subclass level in blood" ], "HP:0032136": [ "decrease circulate igg1 level", "decreased circulating igg1 level", "decrease igg1 level in blood", "decreased igg1 level in blood" ], "HP:0032137": [ "decrease circulate igg3 level", "decreased circulating igg3 level", "decrease igg3 level in blood", "decreased igg3 level in blood" ], "HP:0032138": [ "decrease circulate igg4 level", "decreased circulating igg4 level", "decrease igg4 level in blood", "decreased igg4 level in blood" ], "HP:0032139": [ "reduce isohemagglutinin level", "reduced isohemagglutinin level", "decreased natural antibody to blood group agent", "decreased natural antibody to blood group agents", "partial absence of isohemagglutinins" ], "HP:0032140": [ "decrease specific antibody response to vaccination", "decreased specific antibody response to vaccination" ], "HP:0032141": [ "precordial pain" ], "HP:0032142": [ "fetor hepaticus", "foetor hepaticus" ], "HP:0032143": [ "burn mouth", "burning mouth" ], "HP:0032144": [ "coffee ground vomitus", "coffee ground emesis", "coffee grounds emesis", "coffee ground vomit", "coffee grounds vomiting" ], "HP:0032145": [ "sural nerve atrophy", "atrophy of sural nerve" ], "HP:0032146": [ "hbc hemoglobin", "haemoglobin c", "hbc haemoglobin", "hemoglobin c" ], "HP:0032147": [ "erythromelalgia" ], "HP:0032148": [ "episodic pain" ], "HP:0032149": [ "breakthrough pain" ], "HP:0032150": [ "paroxysmal rectal pain" ], "HP:0032151": [ "episodic eosinophilia" ], "HP:0032152": [ "keratosis pilaris", "carpet tack sign", "chicken skin", "follicular keratosis", "follicular keratotic plug", "follicular plugging", "hyperkeratosis pilaris", "lichen pilaris", "obsolete hyperkeratosis pilaris" ], "HP:0040180": [ "keratosis pilaris", "carpet tack sign", "chicken skin", "follicular keratosis", "follicular keratotic plug", "follicular plugging", "hyperkeratosis pilaris", "lichen pilaris", "obsolete hyperkeratosis pilaris" ], "HP:0032153": [ "joint subluxation" ], "HP:0032154": [ "aphthous ulcer", "canker sore" ], "HP:0032155": [ "abdominal cramp", "abdominal cramps" ], "HP:0032156": [ "skin detachment", "detach skin", "detached skin", "epidermal detachment", "skin sloughing" ], "HP:0032157": [ "recurrent genital herpes" ], "HP:0032158": [ "unusual infection by anatomical site" ], "HP:0032159": [ "fungal meningitis" ], "HP:0032160": [ "cryptococcal meningitis" ], "HP:0032161": [ "coccidioidal meningitis" ], "HP:0032162": [ "unusual skin infection" ], "HP:0032163": [ "molluscum contagiosum" ], "HP:0032164": [ "increase blood folate concentration", "increased blood folate concentration" ], "HP:0032165": [ "placental mesenchymal dysplasia" ], "HP:0032166": [ "unusual gastrointestinal infection", "unusual gi infection" ], "HP:0032167": [ "clostridium difficile enteritis", "c. difficile enteritis" ], "HP:0032168": [ "clostridium difficile colitis" ], "HP:0032169": [ "severe infection", "unusual course of infection" ], "HP:0032170": [ "severe varicella zoster infection" ], "HP:0032171": [ "bladder pain" ], "HP:0032172": [ "air crescent sign" ], "HP:0032173": [ "continuous diaphragm sign" ], "HP:0032174": [ "tree - in - bud pattern" ], "HP:0032175": [ "signet ring sign" ], "HP:0032176": [ "apical pulmonary opacity", "apical cap", "apical pleural thickening" ], "HP:0032177": [ "parenchymal consolidation" ], "HP:0032178": [ "flaky paint dermatosis", "flaky paint skin appearance" ], "HP:0032179": [ "abnormal circulate globulin level", "abnormal circulating globulin level" ], "HP:0032180": [ "abnormal circulate metabolite concentration", "abnormal circulating metabolite concentration" ], "HP:0032181": [ "anomalous hepatic venous drainage into the left atrium" ], "HP:0032182": [ "abnormal proportion of memory t cell", "abnormal proportion of memory t cells", "abnormal proportion of cd4+cd29+ cell", "abnormal proportion of cd4+cd29+ cells" ], "HP:0032183": [ "decreased proportion of memory t cell", "decreased proportion of memory t cells", "decreased proportion of cd4+cd29+ cell", "decreased proportion of cd4+cd29+ cells" ], "HP:0032184": [ "increase proportion of memory t cell", "increased proportion of memory t cells", "increase proportion of cd4+cd29+ cell", "increased proportion of cd4+cd29+ cells" ], "HP:0032185": [ "disseminate molluscum contagiosum", "disseminated molluscum contagiosum" ], "HP:0032186": [ "anal neoplasm" ], "HP:0032187": [ "anal intraepithelial neoplasia" ], "HP:0032188": [ "cellular hypersensitivity to mitomycin c" ], "HP:0032189": [ "cellular hypersensitivity to diepoxybutane" ], "HP:0032190": [ "abnormal meniscus morphology" ], "HP:0032191": [ "torn meniscus" ], "HP:0032192": [ "hydatidiform mole" ], "HP:0032193": [ "decrease low - density lipoprotein particle size", "decreased low - density lipoprotein particle size" ], "HP:0032195": [ "abnormal s wave" ], "HP:0032196": [ "prominent s wave in lead i" ], "HP:0032197": [ "deep s wave in lead v5" ], "HP:0032198": [ "decrease prothrombin time", "decreased prothrombin time", "decrease inr", "decreased inr", "decrease international normalised ratio", "decreased international normalised ratio", "decrease international normalized ratio", "decreased international normalized ratio", "decrease pt", "decreased pt" ], "HP:0032199": [ "abnormal prothrombin time", "abnormal pt" ], "HP:0032200": [ "perivascular fibrosis" ], "HP:0032201": [ "rotator cuff tear" ], "HP:0032202": [ "vulvar intraepithelial neoplasia" ], "HP:0032203": [ "lymphoid nodular hyperplasia", "lymphonodular hyperplasia of the colon" ], "HP:0032204": [ "chronic active epstein - barr virus infection" ], "HP:0032205": [ "increase circulate galectin - 3 level", "increased circulating galectin - 3 level" ], "HP:0032207": [ "abnormal cerebrospinal fluid metabolite concentration", "abnormal csf metabolite concentration" ], "HP:0032208": [ "increase urinary type 1 collagen n - terminal telopeptide level", "increased urinary type 1 collagen n - terminal telopeptide level", "increase collagen crosslinked n - telopeptide [ mole / volume ] in 24 hour urine", "increased collagen crosslinked n - telopeptide [ moles / volume ] in 24 hour urine", "increase urine ntx level", "increased urine ntx level" ], "HP:0032209": [ "abnormal circulate free t3 level", "abnormal circulating free t3 level", "abnormal circulate free t3 concentration", "abnormal circulating free t3 concentration", "abnormal circulate free triiodotyronine concentration", "abnormal circulating free triiodotyronine concentration" ], "HP:0032210": [ "decrease circulate free t3", "decreased circulating free t3", "decrease circulate free triiodothyronine", "decreased circulating free triiodothyronine" ], "HP:0032211": [ "increase urinary epithelial cell count", "increased urinary epithelial cell count" ], "HP:0032212": [ "increase urinary squamous epithelial cell count", "increased urinary squamous epithelial cell count" ], "HP:0032213": [ "increase urinary renal tubular epithelial cell count", "increased urinary renal tubular epithelial cell count" ], "HP:0032214": [ "increase urinary transitional epithelial cell count", "increased urinary transitional epithelial cell count" ], "HP:0032215": [ "disseminate cutaneous wart", "disseminated cutaneous warts" ], "HP:0032216": [ "lymphocytic infiltration of the colorectal mucosa" ], "HP:0032217": [ "indurate nodule", "indurated nodule" ], "HP:0032218": [ "decreased proportion of cd4 - positive t cell", "decreased proportion of cd4 - positive t cells", "decreased proportion of cd4+ cell", "decreased proportion of cd4+ cells", "decreased proportion of cd4 - positive , alpha - beta t cell", "decreased proportion of cd4 - positive , alpha - beta t cells", "reduce proportion of cd4 - positive cell", "reduced proportion of cd4 - positive cells" ], "HP:0032219": [ "increase proportion of cd4 - positive t cell", "increased proportion of cd4 - positive t cells", "elevate proportion of cd4 - positive t cell", "elevated proportion of cd4 - positive t cells", "increase proportion of cd4+ t cell", "increased proportion of cd4+ t cells", "increase proportion of cd4 - positive , alpha - beta t cell", "increased proportion of cd4 - positive , alpha - beta t cells" ], "HP:0032220": [ "interface hepatitis" ], "HP:0032221": [ "periportal emperipolesis" ], "HP:0032222": [ "serrate intestinal polyp", "serrated intestinal polyps", "serrate polyposis", "serrated polyposis" ], "HP:0032223": [ "blood group" ], "HP:0032224": [ "abo blood group" ], "HP:0032225": [ "perifollicular fibroma" ], "HP:0032226": [ "abnormal sebaceous gland morphology" ], "HP:0032227": [ "sebaceous hyperplasia" ], "HP:0032228": [ "trichodiscoma" ], "HP:0032229": [ "perinuclear antineutrophil antibody positivity", "p - anca positivity" ], "HP:0032230": [ "cytoplasmic antineutrophil antibody positivity" ], "HP:0032231": [ "hypochromia" ], "HP:0032232": [ "increase circulate creatine kinase mb isoform", "increased circulating creatine kinase mb isoform", "increase circulate ck mb isoform", "increased circulating ck mb isoform" ], "HP:0032233": [ "increase circulate creatine kinase bb isoform", "increased circulating creatine kinase bb isoform", "increase circulate ck bb isoform", "increased circulating ck bb isoform" ], "HP:0032234": [ "increase circulate creatine kinase mm isoform", "increased circulating creatine kinase mm isoform", "increase circulate ck mm isoform", "increased circulating ck mm isoform" ], "HP:0032235": [ "anti - la / ss - b antibody positivity" ], "HP:0032236": [ "increase circulating immature neutrophil count", "increased circulating immature neutrophil count" ], "HP:0032237": [ "increase circulate myelocyte count", "increased circulating myelocyte count" ], "HP:0032238": [ "increase circulate metamyelocyte count", "increased circulating metamyelocyte count" ], "HP:0032239": [ "increase circulate band cell count", "increased circulating band cell count", "increase circulate band form neutrophil", "increased circulating band form neutrophils", "leave shift", "left shift" ], "HP:0032240": [ "elevate circulate e selectin level", "elevated circulating e selectin level" ], "HP:0032241": [ "cervical neoplasm" ], "HP:0032242": [ "cervical intraepithelial neoplasia" ], "HP:0032243": [ "abnormal tissue metabolite concentration" ], "HP:0032244": [ "decrease serum thromboxane b2", "decreased serum thromboxane b2" ], "HP:0032245": [ "abnormal metabolism" ], "HP:0032247": [ "persistent cmv viremia" ], "HP:0032248": [ "persistent viremia" ], "HP:0032249": [ "coccidioidomycosis", "valley fever" ], "HP:0032250": [ "acinetobacter infection" ], "HP:0032251": [ "abnormal immune system morphology" ], "HP:0032252": [ "granuloma" ], "HP:0032253": [ "eosinophilic granuloma" ], "HP:0032254": [ "increase circulate copper concentration", "increased circulating copper concentration", "elevate serum copper", "elevated serum copper", "hypercupremia" ], "HP:0032255": [ "opportunistic fungal infection" ], "HP:0032256": [ "histoplasmosis" ], "HP:0032257": [ "disseminate histoplasmosis", "disseminated histoplasmosis" ], "HP:0032258": [ "pulmonary histoplasmosis" ], "HP:0032259": [ "chronic tinea infection" ], "HP:0032260": [ "opportunistic bacterial infection" ], "HP:0032261": [ "nontuberculous mycobacterial pulmonary infection" ], "HP:0032262": [ "pulmonary tuberculosis", "pulmonary tb" ], "HP:0032263": [ "increase blood pressure", "increased blood pressure", "increase bp", "increased bp" ], "HP:0032264": [ "anti - nmda receptor antibody positivity", "presence of anti - n - methyl - d - aspartate receptor antibody in blood", "presence of anti - nmdar antibody in blood" ], "HP:0032265": [ "csf autoimmune antibody positivity", "cerebrospinal fluid autoimmune antibody positivity" ], "HP:0032266": [ "csf anti - nmda receptor antibody positivity", "presence of anti - n - methyl - d - aspartate receptor antibody in csf", "presence of anti - nmdar antibody in cerebrospinal fluid", "presence of nmdar antibody in csf" ], "HP:0032267": [ "empty delta sign" ], "HP:0032268": [ "dural tail sign" ], "HP:0032269": [ "lemon sign" ], "HP:0032270": [ "optic nerve tram - track sign" ], "HP:0032271": [ "extrapulmonary tuberculosis", "extrapulmonary tb" ], "HP:0032272": [ "elevate urinary n - acetylaspartic acid level", "elevated urinary n - acetylaspartic acid level" ], "HP:0032273": [ "increase circulate n - acetylaspartic acid concentration", "increased circulating n - acetylaspartic acid concentration", "increase circulate n - acetyl aspartate level", "increased circulating n - acetyl aspartate level", "increase circulate n - acetyl aspartic acid level", "increased circulating n - acetyl aspartic acid level", "increase circulate n - acetyl - l - aspartic acid level", "increased circulating n - acetyl - l - aspartic acid level", "increase circulate n - acetylaspartate level", "increased circulating n - acetylaspartate level", "increase circulate naa level", "increased circulating naa level" ], "HP:0032274": [ "increase csf n - acetylaspartic acid concentration", "increased csf n - acetylaspartic acid concentration", "increase n - acetyl aspartate level in csf", "increased n - acetyl aspartate levels in csf", "increase n - acetyl aspartic acid level in csf", "increased n - acetyl aspartic acid levels in csf", "increase n - acetyl - l - aspartic acid level in csf", "increased n - acetyl - l - aspartic acid levels in csf", "increase n - acetylaspartate level in csf", "increased n - acetylaspartate levels in csf", "increase naa level in csf", "increased naa levels in csf" ], "HP:0032275": [ "recurrent shingle", "recurrent shingles" ], "HP:0032276": [ "prominent subcalcaneal fat pad" ], "HP:0032277": [ "lozenge - shape umbilicus", "lozenge - shaped umbilicus" ], "HP:0032278": [ "2 - hydroxyglutarate aciduria" ], "HP:0032281": [ "abnormal base excess" ], "HP:0032282": [ "contact dermatitis" ], "HP:0032283": [ "disseminate nontuberculous mycobacterial infection", "disseminated nontuberculous mycobacterial infection" ], "HP:0032284": [ "ultra - low vision with retained motion projection" ], "HP:0032285": [ "ultra - low vision with retained light projection" ], "HP:0032286": [ "ultra - low vision with retained light perception" ], "HP:0032287": [ "ultra - low vision with no light perception" ], "HP:0032288": [ "polyclonal elevation of circulate igg", "polyclonal elevation of circulating igg" ], "HP:0032289": [ "oligoclonal elevation of circulate igg", "oligoclonal elevation of circulating igg" ], "HP:0032290": [ "monoclonal elevation of igg" ], "HP:0032291": [ "monoclonal elevation of intact igg" ], "HP:0032292": [ "monoclonal elevation of igg light chain" ], "HP:0032293": [ "monoclonal elevation of igg heavy chain" ], "HP:0032294": [ "monoclonal elevation of igg kappa chain" ], "HP:0032295": [ "monoclonal elevation of igg lambda chain" ], "HP:0032296": [ "increase circulate igg subclass", "increased circulating igg subclass" ], "HP:0032297": [ "increase circulate igg3 level", "increased circulating igg3 level" ], "HP:0032298": [ "increase circulate igg1 level", "increased circulating igg1 level" ], "HP:0032299": [ "increase circulate igg2 level", "increased circulating igg2 level" ], "HP:0032300": [ "increase circulate igg4 level", "increased circulating igg4 level" ], "HP:0032301": [ "genital wart", "genital warts" ], "HP:0032302": [ "kappa bence jones proteinuria" ], "HP:0032303": [ "lambda bence jones proteinuria" ], "HP:0032304": [ "abnormal mannose - bind protein level", "abnormal mannose - binding protein level" ], "HP:0032305": [ "decrease mannose - binding protein level", "decreased mannose - binding protein level" ], "HP:0032306": [ "increase mannose - binding protein level", "increased mannose - binding protein level" ], "HP:0032308": [ "increase circulate procalcitonin concentration", "increased circulating procalcitonin concentration", "increase circulate procalcitonin level", "increased circulating procalcitonin level" ], "HP:0032309": [ "abnormal granulocyte count" ], "HP:0032310": [ "granulocytosis" ], "HP:0032311": [ "increase circulate globulin level", "increased circulating globulin level" ], "HP:0032312": [ "decrease circulate globulin level", "decreased circulating globulin level" ], "HP:0032313": [ "frontotemporal hypertrichosis" ], "HP:0032314": [ "abnormal areolar morphology" ], "HP:0032315": [ "areolar fullness" ], "HP:0032316": [ "family history" ], "HP:0032317": [ "family history of cancer" ], "HP:0032318": [ "family history of heart disease" ], "HP:0032319": [ "health status" ], "HP:0032320": [ "affected" ], "HP:0032321": [ "unaffected" ], "HP:0032322": [ "healthy" ], "HP:0032323": [ "periodic fever" ], "HP:0032324": [ "non - periodic recurrent fever" ], "HP:0032325": [ "lacunar stroke" ], "HP:0032326": [ "methicillin - resistant staphylococcus aureus infection", "mrsa infection" ], "HP:0032327": [ "interhemispheric cyst" ], "HP:0032328": [ "temporomandibular joint adhesion" ], "HP:0032329": [ "increase urinary 11 - deoxycortisol level", "increased urinary 11 - deoxycortisol level" ], "HP:0032330": [ "increase urinary 11 - deoxycorticosterone level", "increased urinary 11 - deoxycorticosterone level" ], "HP:0032331": [ "increase urinary 11 - deoxytetrahydrocorticosterone level", "increased urinary 11 - deoxytetrahydrocorticosterone level" ], "HP:0032332": [ "oligoclonal elevation of circulate igm", "oligoclonal elevation of circulating igm" ], "HP:0032333": [ "polyclonal elevation of circulate iga", "polyclonal elevation of circulating iga" ], "HP:0032334": [ "oligoclonal elevation of circulate iga", "oligoclonal elevation of circulating iga" ], "HP:0032335": [ "monoclonal elevation of circulate iga", "monoclonal elevation of circulating iga" ], "HP:0032336": [ "increase circulate specific ige antibody", "increased circulating specific ige antibody" ], "HP:0032337": [ "monoclonal elevation of circulate ige", "monoclonal elevation of circulating ige" ], "HP:0032338": [ "oligoclonal elevation of circulate ige", "oligoclonal elevation of circulating ige" ], "HP:0032339": [ "polyclonal elevation of circulate ige", "polyclonal elevation of circulating ige" ], "HP:0032341": [ "reduce forced vital capacity", "reduced forced vital capacity", "decrease forced vital capacity", "decreased forced vital capacity", "reduce fvc", "reduced fvc" ], "HP:0032342": [ "reduce forced expiratory volume in one second", "reduced forced expiratory volume in one second", "reduce fev1", "reduced fev1" ], "HP:0032344": [ "upslanting toenail", "ski - jump toenail", "upturned toenail" ], "HP:0032345": [ "elevate cancer ag 19 - 9 level", "elevated cancer ag 19 - 9 level" ], "HP:0032346": [ "cutaneous lichen amyloidosis" ], "HP:0032347": [ "cutaneous macular amyloidosis", "macular amyloidosis" ], "HP:0032348": [ "cutaneous nodular amyloidosis" ], "HP:0032349": [ "serinuria" ], "HP:0032350": [ "sulfocysteinuria" ], "HP:0032351": [ "phenylalaninuria", "increase level of phenylalanine in urine", "increased level of phenylalanine in urine" ], "HP:0032352": [ "methioninuria" ], "HP:0032353": [ "leucinuria" ], "HP:0032355": [ "decrease peak expiratory flow", "decreased peak expiratory flow" ], "HP:0032356": [ "decrease pre - bronchodilator force vital capacity", "decreased pre - bronchodilator forced vital capacity", "decrease pre bronchodilator force vital capacity", "decreased pre bronchodilator forced vital capacity", "decrease prebronchodilator force vital capacity", "decreased prebronchodilator forced vital capacity" ], "HP:0032357": [ "decrease post - bronchodilator force vital capacity", "decreased post - bronchodilator forced vital capacity", "decrease post bronchodilator force vital capacity", "decreased post bronchodilator forced vital capacity", "decrease postbronchodilator force vital capacity", "decreased postbronchodilator forced vital capacity" ], "HP:0032358": [ "decrease post - bronchodilator force expiratory volume in one second", "decreased post - bronchodilator forced expiratory volume in one second", "decrease post bronchodilator force expiratory volume in one second", "decreased post bronchodilator forced expiratory volume in one second", "decrease postbronchodilator forced expiratory volume in one second", "decreased postbronchodilator forced expiratory volume in one second" ], "HP:0032359": [ "decrease forced expiratory flow 25 - 75 %", "decreased forced expiratory flow 25 - 75 %", "decrease fef25 - 75 %", "decreased fef25 - 75 %" ], "HP:0032360": [ "decrease pre - bronchodilator force expiratory flow 25 - 75 %", "decreased pre - bronchodilator forced expiratory flow 25 - 75 %", "decrease pre bronchodilator force expiratory flow 25 - 75 %", "decreased pre bronchodilator forced expiratory flow 25 - 75 %", "decrease pre - bronchodilator fef25 - 75 %", "decreased pre - bronchodilator fef25 - 75 %", "decrease prebronchodilator force expiratory flow 25 - 75 %", "decreased prebronchodilator forced expiratory flow 25 - 75 %" ], "HP:0032361": [ "decrease post - bronchodilator force expiratory flow 25 - 75 %", "decreased post - bronchodilator forced expiratory flow 25 - 75 %", "decrease post bronchodilator force expiratory flow 25 - 75 %", "decreased post bronchodilator forced expiratory flow 25 - 75 %", "decrease post - bronchodilator fef25 - 75 %", "decreased post - bronchodilator fef25 - 75 %", "decrease postbronchodilator force expiratory flow 25 - 75 %", "decreased postbronchodilator forced expiratory flow 25 - 75 %" ], "HP:0032362": [ "increase circulate corticosterone level", "increased circulating corticosterone level" ], "HP:0032363": [ "decrease circulate corticosterone level", "decreased circulating corticosterone level" ], "HP:0032364": [ "obsolete abnormal csf amino acid level", "abnormal csf amino acid concentration", "abnormal amino acid level in cerebrospinal fluid", "abnormal amino acid levels in cerebrospinal fluid", "abnormal cerebrospinal fluid amino acid level", "abnormal csf amino acid level" ], "HP:0032365": [ "exacerbate by aspirin ingestion", "exacerbated by aspirin ingestion" ], "HP:0032366": [ "positive direct antiglobulin test" ], "HP:0032367": [ "abnormal growth hormone level", "abnormal somatotropin level" ], "HP:0032368": [ "acidemia" ], "HP:0032369": [ "alkalemia" ], "HP:0032370": [ "blood group a" ], "HP:0032371": [ "isoleucinuria", "hyperisoleucinuria" ], "HP:0032372": [ "increase peripheral blast count", "increased peripheral blast count", "elevate blast count", "elevated blast count", "elevate circulating blast", "elevated circulating blasts", "increase peripheral myeloblast count", "increased peripheral myeloblast count" ], "HP:0032373": [ "duffy blood group" ], "HP:0032374": [ "duffy fya positivity" ], "HP:0032375": [ "duffy fyb positivity" ], "HP:0032376": [ "anti - beta 2 glycoprotein i antibody positivity", "anti - b2gpi positivity" ], "HP:0032377": [ "increase urinary orosomucoid", "increased urinary orosomucoid", "increase urinary alpha - 1 - acid glycoprotein", "increased urinary alpha - 1 - acid glycoprotein" ], "HP:0032378": [ "immediate - type hypersensitivity drug reaction" ], "HP:0032379": [ "polymorphous light eruption", "sun allergy" ], "HP:0032381": [ "hydroa vacciniforme", "acute vesiculation and crusting and scar follow sun exposure", "acute vesiculation and crusting and scarring following sun exposure" ], "HP:0032382": [ "uniparental disomy" ], "HP:0032383": [ "uniparental heterodisomy" ], "HP:0032384": [ "uniparental isodisomy" ], "HP:0032385": [ "abnormal circulate transferrin concentration", "abnormal circulating transferrin concentration", "abnormal circulate transferrin level", "abnormal circulating transferrin level" ], "HP:0032386": [ "elevate circulate transferrin concentration", "elevated circulating transferrin concentration", "elevate transferrin level", "elevated transferrin level" ], "HP:0032387": [ "reduce circulate transferrin concentration", "reduced circulating transferrin concentration", "reduce transferrin level", "reduced transferrin level" ], "HP:0032388": [ "periventricular nodular heterotopia" ], "HP:0032389": [ "periventricular laminar heterotopia" ], "HP:0032390": [ "periventricular ribbonlike heterotopia" ], "HP:0032391": [ "subcortical heterotopia" ], "HP:0032392": [ "nodular subcortical heterotopia in peritrigonal region", "nodular subcortical heterotopia in peritrigonal regions" ], "HP:0032393": [ "diffuse ribbon - like subcortical heterotopia" ], "HP:0032394": [ "mesial parasagittal subcortical heterotopia" ], "HP:0032395": [ "curvilinear subcortical heterotopia", "giant heterotopia" ], "HP:0032396": [ "transmantle columnar heterotopia" ], "HP:0032397": [ "citrullinuria" ], "HP:0032398": [ "dysgyria" ], "HP:0032399": [ "dysgyria with normal cortical thickness" ], "HP:0032400": [ "dysgyria with thickened cortex" ], "HP:0032401": [ "aspartic aciduria" ], "HP:0032403": [ "asparaginuria", "increase level of asparagine in urine", "increased level of asparagine in urine", "increase urine asparagine level", "increased urine asparagine level" ], "HP:0032404": [ "testicular mass" ], "HP:0032405": [ "increase urinary phosphoserine level", "increased urinary phosphoserine level", "increase level of phosphoserine in urine", "increased level of phosphoserine in urine" ], "HP:0032406": [ "unilateral perisylvian polymicrogyria" ], "HP:0032407": [ "bilateral perisylvian polymicrogyria" ], "HP:0032408": [ "breast mass", "breast lump" ], "HP:0032409": [ "subcortical band heterotopia" ], "HP:0032410": [ "bilateral generalize polymicrogyria", "bilateral generalized polymicrogyria", "bilateral generalise polymicrogyria", "bilateral generalised polymicrogyria", "diffuse polymicrogyria" ], "HP:0032411": [ "posterior predominant subcortical band heterotopia", "occipital subcortical band heterotopia", "subcortical band heterotopia posterior predominant" ], "HP:0032412": [ "anterior predominant subcortical band heterotopia", "frontal subcortical band heterotopia", "subcortical band heterotopia anterior predominant" ], "HP:0032413": [ "diffuse subcortical band heterotopia", "subcortical band heterotopia diffuse" ], "HP:0032414": [ "hydroxylysinuria" ], "HP:0032415": [ "parasagittal parieto - occipital polymicrogyria" ], "HP:0032416": [ "retinal microaneurysm" ], "HP:0032417": [ "periglomerular fibrosis", "periglomerular fibrotic thickening" ], "HP:0032418": [ "abnormal hdl subfraction concentration" ], "HP:0032419": [ "abnormal hdl2a concentration" ], "HP:0032420": [ "increase hdl2a concentration", "increased hdl2a concentration" ], "HP:0032421": [ "decrease hdl2a concentration", "decreased hdl2a concentration" ], "HP:0032422": [ "abnormal hdl2b concentration" ], "HP:0032423": [ "decrease hdl2b concentration", "decreased hdl2b concentration" ], "HP:0032424": [ "increase hdl2b concentration", "increased hdl2b concentration" ], "HP:0032425": [ "abnormal hdl3a concentration" ], "HP:0032426": [ "abnormal hdl3b concentration" ], "HP:0032427": [ "abnormal hdl3c concentration" ], "HP:0032428": [ "increase hdl3a concentration", "increased hdl3a concentration" ], "HP:0032429": [ "decrease hdl3a concentration", "decreased hdl3a concentration" ], "HP:0032430": [ "increase hdl3b concentration", "increased hdl3b concentration" ], "HP:0032431": [ "decrease hdl3b concentration", "decreased hdl3b concentration" ], "HP:0032432": [ "increase hdl3c concentration", "increased hdl3c concentration" ], "HP:0032433": [ "decrease hdl3c concentration", "decreased hdl3c concentration" ], "HP:0032434": [ "delay umbilical cord separation", "delayed umbilical cord separation", "delay separation of umbilical cord", "delayed separation of umbilical cord" ], "HP:0032435": [ "neonatal omphalitis", "omphalitis" ], "HP:0032436": [ "abnormal c - reactive protein level" ], "HP:0032437": [ "reduce c - reactive protein level", "reduced c - reactive protein level" ], "HP:0032438": [ "platelet anisocytosis" ], "HP:0032439": [ "airborn particle hypersensitivity" ], "HP:0032440": [ "blood group b" ], "HP:0032441": [ "blood group ab" ], "HP:0032442": [ "blood group o" ], "HP:0032443": [ "past medical history" ], "HP:0032444": [ "status post organ transplantation", "s / p organ transplantation" ], "HP:0032445": [ "pulmonary cyst", "lung cyst" ], "HP:0032446": [ "pulmonary bulla", "pulmonary bullae" ], "HP:0032447": [ "pulmonary bleb" ], "HP:0032448": [ "achlorhydria" ], "HP:0032449": [ "abnormal dermoepidermal hemidesmosome morphology" ], "HP:0032450": [ "positive blood arsenic test" ], "HP:0032451": [ "oral melanotic macule", "melanotic macule of oral mucosa" ], "HP:0032452": [ "oral melanoacanthoma" ], "HP:0032453": [ "abnormal lip pigmentation" ], "HP:0032454": [ "labial melanotic macule", "labial melanotic freckle" ], "HP:0032455": [ "reduce granulocyte cd18 level", "reduced granulocyte cd18 level" ], "HP:0032456": [ "unlayered lissencephaly" ], "HP:0032457": [ "2 - 3 - layer lissencephaly", "2 - 3 - layered lissencephaly" ], "HP:0032458": [ "narrowing of medullary canal", "medullary cavity obliteration", "narrowing of bone marrow canal", "narrowing of bone medullary canal", "narrowing of the marrow cavity" ], "HP:0032459": [ "abnormal phosphoribosylpyrophosphate synthetase level" ], "HP:0032460": [ "decrease phosphoribosylpyrophosphate synthetase level", "decreased phosphoribosylpyrophosphate synthetase level" ], "HP:0032461": [ "obsolete tiger - tail banding", "tiger tail banding", "tiger - tail banding" ], "HP:0032462": [ "increase circulate palmitate level", "increased circulating palmitate level" ], "HP:0032463": [ "reduce circulate fibronectin level", "reduced circulating fibronectin level", "decrease plasma fibronectin", "decreased plasma fibronectin" ], "HP:0032464": [ "ureteral hypoplasia", "hypoplasia of the ureter", "ureter hypoplasia" ], "HP:0032465": [ "bladder trabeculation", "trabecular bladder" ], "HP:0032466": [ "aplasia of the olfactory bulb", "aplastic olfactory bulb", "olfactory bulb aplasia" ], "HP:0032467": [ "past obstetric history", "maternal medical history" ], "HP:0032468": [ "history of stillbirth" ], "HP:0032469": [ "anti - asialoglycoprotein receptor antibody positivity" ], "HP:0032470": [ "monilethrix" ], "HP:0032471": [ "focal polymicrogyria" ], "HP:0032472": [ "abnormal urine urobilinogen level" ], "HP:0032473": [ "decrease urine urobilinogen", "decreased urine urobilinogen" ], "HP:0032475": [ "6 - layer lissencephaly", "6 - layered lissencephaly" ], "HP:0032476": [ "abnormal circulate vitamin b6 level", "abnormal circulating vitamin b6 level" ], "HP:0032477": [ "elevate circulate vitamin b6 level", "elevated circulating vitamin b6 level" ], "HP:0032478": [ "lateral spinal meningocele" ], "HP:0032479": [ "preimplantation lethality", "preimplantation embryonic lethality" ], "HP:0032480": [ "beta - aminoisobutyric aciduria" ], "HP:0032481": [ "abnormal pituitary glycoprotein hormone alpha subunit level" ], "HP:0032482": [ "decrease pituitary glycoprotein hormone alpha subunit level", "decreased pituitary glycoprotein hormone alpha subunit level", "decrease pituitary glycoprotein alpha subunit level", "decreased pituitary glycoprotein alpha subunit level", "decrease pituitary glycoprotein polypeptide alpha subunit level", "decreased pituitary glycoprotein polypeptide alpha subunit level" ], "HP:0032484": [ "elevated fecal sodium", "elevated faecal sodium" ], "HP:0032485": [ "abnormal fecal osmolality", "abnormal faecal osmolality" ], "HP:0032486": [ "elevated fecal osmolality", "elevated faecal osmolality" ], "HP:0032487": [ "reduce fecal osmolality", "reduced fecal osmolality", "reduce faecal osmolality", "reduced faecal osmolality" ], "HP:0032488": [ "abnormal fecal ph", "abnormal faecal ph" ], "HP:0032489": [ "elevated fecal ph", "elevated faecal ph" ], "HP:0032490": [ "decreased fecal ph", "decreased faecal ph" ], "HP:0032491": [ "increase circulate argininosuccinic acid", "increased circulating argininosuccinic acid" ], "HP:0032492": [ "anti - myelin oligodendrocyte glycoprotein antibody positivity", "anti - mog antibody positivity" ], "HP:0032493": [ "increase circulating trypsinogen", "increased circulating trypsinogen", "increase immunoreactive trypsinogen", "increased immunoreactive trypsinogen" ], "HP:0032495": [ "abnormal terminal : vellus ratio" ], "HP:0032496": [ "elevate terminal : vellus ratio", "elevated terminal : vellus ratio" ], "HP:0032497": [ "reduce terminal : vellus ratio", "reduced terminal : vellus ratio" ], "HP:0032499": [ "giant neutrophil granule", "giant neutrophil granules" ], "HP:0032500": [ "exacerbate by tobacco use", "exacerbated by tobacco use", "aggravate by tobacco use", "aggravated by tobacco use", "exacerbate by smoke", "exacerbated by smoking", "smoking or tobacco use exacerbate symptom", "smoking or tobacco use exacerbates symptoms" ], "HP:0032501": [ "exacerbate by contraceptive medication", "exacerbated by contraceptive medication", "contraceptive pill aggravate symptom", "contraceptive pills aggravate symptoms" ], "HP:0032502": [ "exacerbate by barbiturate medication", "exacerbated by barbiturate medication", "barbiturate produce worsen", "barbiturates produce worsening" ], "HP:0032503": [ "ameliorate by ethanol ingestion", "ameliorated by ethanol ingestion", "ethanol reduces manifestation", "ethanol reduces manifestations" ], "HP:0032504": [ "lhermitte 's sign", "barber chair phenomenon", "lhermitte 's phenomenon" ], "HP:0032505": [ "hydrophobia" ], "HP:0032506": [ "alien limb phenomenon" ], "HP:0032507": [ "labiomental fasciculation", "labiomental fasciculations", "fasciculation , labiomental", "fasciculations , labiomental" ], "HP:0032508": [ "polyembolokoilamania" ], "HP:0032509": [ "onychotillomania" ], "HP:0032510": [ "tendon pain" ], "HP:0032511": [ "superiorly position umbilicus", "superiorly positioned umbilicus" ], "HP:0032513": [ "four - vessel umbilical cord" ], "HP:0032514": [ "duplicate lacrimal punctum", "duplicated lacrimal punctum", "double lacrimal puncta", "lacrimal punctum , duplication" ], "HP:0032515": [ "deep dermatophytosis" ], "HP:0032516": [ "invasive dermatophyte infection" ], "HP:0032517": [ "majocchi 's granuloma" ], "HP:0032518": [ "disseminate dermatophytosis", "disseminated dermatophytosis" ], "HP:0032519": [ "increase burr cell count", "increased burr cell count" ], "HP:0032520": [ "masseter muscular weakness" ], "HP:0032521": [ "self hugging", "spasmodic upper - body squeeze" ], "HP:0032522": [ "ameliorate by immunosuppresion", "ameliorated by immunosuppresion", "immunosupressive therapy improve condition", "immunosupressive therapy improves condition" ], "HP:0032523": [ "tendon thicken", "tendon thickening" ], "HP:0032524": [ "long thumb" ], "HP:0032525": [ "aggravate by acetylcholinesterase inhibitor", "aggravated by acetylcholinesterase inhibitor" ], "HP:0032526": [ "ameliorate by acetylcholinesterase inhibitor", "ameliorated by acetylcholinesterase inhibitor" ], "HP:0032527": [ "inferiorly position umbilicus", "inferiorly positioned umbilicus", "low set umbilicus", "low - set umbilicus" ], "HP:0032528": [ "elevate urinary 4 - hydroxybutyric acid", "elevated urinary 4 - hydroxybutyric acid" ], "HP:0032529": [ "obsolete elevate circulate gamma - aminobutyric acid concentration", "obsolete elevated circulating gamma - aminobutyric acid concentration", "elevate circulate gamma - aminobutyric acid concentration", "elevated circulating gamma - aminobutyric acid concentration", "increase circulate gaba concentration", "increased circulating gaba concentration", "increase level of gaba in serum", "increased level of gaba in serum", "increase level of gamma - aminobutyric acid in serum", "increased level of gamma - aminobutyric acid in serum" ], "HP:0032530": [ "decrease succinic semialdehyde dehydrogenase level", "decreased succinic semialdehyde dehydrogenase level" ], "HP:0032531": [ "elevate csf gamma - aminobutyric acid concentration", "elevated csf gamma - aminobutyric acid concentration" ], "HP:0032532": [ "elevate csf 4 - hydroxybutyric acid concentration", "elevated csf 4 - hydroxybutyric acid concentration", "elevate csf gamma - hydroxybutyric acid", "elevated csf gamma - hydroxybutyric acid", "elevate csf ghb level", "elevated csf ghb levels" ], "HP:0032533": [ "elevate circulate acetone concentration", "elevated circulating acetone concentration" ], "HP:0032534": [ "exacerbate by methylxanthine ingestion", "exacerbated by methylxanthine ingestion", "methylxanthines produce worsen", "methylxanthines produce worsening" ], "HP:0032535": [ "cervical ( neck )" ], "HP:0032536": [ "increased number of lymph node", "increased number of lymph nodes" ], "HP:0032537": [ "delay fracture heal", "delayed fracture healing" ], "HP:0032538": [ "pretibial dimple" ], "HP:0032539": [ "joint extensor surface localization" ], "HP:0032540": [ "joint flexor surface localization" ], "HP:0032541": [ "knuckle pad", "knuckle pad on dorsal aspect of finger joint", "knuckle pads on dorsal aspect of finger joints" ], "HP:0032542": [ "exacerbate by pregnancy", "exacerbated by pregnancy" ], "HP:0032543": [ "lithoptysis" ], "HP:0032544": [ "predominant small joint localization" ], "HP:0032545": [ "abdominal rigidity", "rigid abdomen" ], "HP:0032546": [ "abdominal guarding" ], "HP:0032547": [ "low intraocular pressure", "ocular hypotony" ], "HP:0032548": [ "increase placental thickness", "increased placental thickness", "placental thickness increase", "placental thickness increased" ], "HP:0032549": [ "persistent asymmetrical tonic neck reflex", "persistent fencer 's reflex", "tonic neck reflex asymmetrical and persistent" ], "HP:0032550": [ "howell - jolly body", "howell - jolly bodies" ], "HP:0032551": [ "hemorrhoid", "hemorrhoids", "haemorrhoid", "haemorrhoids", "pile", "piles" ], "HP:0032552": [ "abnormal pulse" ], "HP:0032553": [ "weak pulse" ], "HP:0032554": [ "absent pulse" ], "HP:0032555": [ "bound pulse", "bounding pulse" ], "HP:0032556": [ "circumoral cyanosis", "bluish around mouth" ], "HP:0032557": [ "history of bone marrow transplant", "status post haematopoietic stem cell transplantation", "status post hematopoietic stem cell transplantation" ], "HP:0032558": [ "absent sperm flagellum", "absent sperm flagella" ], "HP:0032559": [ "short sperm flagellum", "short sperm flagella" ], "HP:0032560": [ "coil sperm flagellum", "coiled sperm flagella" ], "HP:0032561": [ "microcephalic sperm head", "small - head sperm" ], "HP:0032562": [ "tapered sperm head" ], "HP:0032563": [ "dacryocytosis", "dacryocytes", "tear - drop shape erythrocyte", "tear - drop shaped erythrocytes" ], "HP:0032564": [ "ileitis", "inflammation of the ileum" ], "HP:0032565": [ "vaginal mucosal ulceration" ], "HP:0032566": [ "oval macrocytosis" ], "HP:0032567": [ "lipiduria", "urinary lipid excretion" ], "HP:0032568": [ "urinary mulberry cell", "urinary mulberry cells" ], "HP:0032569": [ "temporal bossing" ], "HP:0032570": [ "pontine ischemic lacunes", "pontine ischaemic lacunes" ], "HP:0032571": [ "increase oocyte death", "increased oocyte death" ], "HP:0032572": [ "abnormal urinary nucleobase concentration" ], "HP:0032573": [ "elevate urinary cytidine", "elevated urinary cytidine" ], "HP:0032574": [ "elevate uridine in urine", "elevated uridine in urine" ], "HP:0032575": [ "decrease circulate 12 - hete", "decreased circulating 12 - hete", "decrease circulate 12 - hydroxyeicosatetraenoic acid concentration", "decreased circulating 12 - hydroxyeicosatetraenoic acid concentration" ], "HP:0032576": [ "intracellular accumulation of dol - pp - glcnac2man5" ], "HP:0032577": [ "clonal t cell receptor rearrangement" ], "HP:0032578": [ "third ventricle colloid cyst" ], "HP:0032579": [ "vascular hamartoma" ], "HP:0032580": [ "abnormal bulbus cordis morphology" ], "HP:0032581": [ "abnormal renal insterstitial morphology" ], "HP:0032582": [ "renal interstitial foam cell", "renal interstitial foam cells" ], "HP:0032583": [ "renal glomerular foam cell", "renal glomerular foam cells" ], "HP:0032584": [ "renal interstitial neutrophil infiltration" ], "HP:0032585": [ "renal interstitial eosinophil infiltration" ], "HP:0032586": [ "renal interstitial plasma cell infiltration" ], "HP:0032587": [ "renal interstitial calcium oxalate" ], "HP:0032588": [ "hand apraxia", "lack of purposeful hand use" ], "HP:0032589": [ "renal lymphocytic tubulitis" ], "HP:0032590": [ "renal neutrophilic tubulitis" ], "HP:0032591": [ "renal interstitial hemosiderin" ], "HP:0032592": [ "aplasia of the right hemidiaphragm", "right diaphragmatic hernia" ], "HP:0032593": [ "myoglobin cast", "myoglobin casts" ], "HP:0032594": [ "renal tubular basement membrane denudation", "denude tubular basement membrane", "denuded tubular basement membrane" ], "HP:0032595": [ "renal tubular epithelial cell detachment" ], "HP:0032596": [ "renal tubular epithelial cell cytoplasmic vacuolization" ], "HP:0032597": [ "renal tubular epithelial cell slough", "renal tubular epithelial cell sloughing" ], "HP:0032598": [ "blebbing of apical cytoplasm of renal tubular epithelial cell", "blebbing of apical cytoplasm of renal tubular epithelial cells" ], "HP:0032599": [ "abnormal renal tubular epithelial morphology" ], "HP:0032600": [ "renal tubular epithelial cell hyaline droplet", "renal tubular epithelial cell hyaline droplets" ], "HP:0032601": [ "multinucleation of renal tubular epithelial cell", "multinucleation of renal tubular epithelial cells" ], "HP:0032602": [ "prominent nucleolus of renal tubular epithelial cell", "prominent nucleoli of renal tubular epithelial cells" ], "HP:0032603": [ "renal tubular epithelial cell simplification" ], "HP:0032604": [ "renal tubular epithelial cell mitosis" ], "HP:0032605": [ "high renal tubular epithelial cell n / c ratio", "high n / c ratio of renal tubular epithelial cell", "high n / c ratio of renal tubular epithelial cells" ], "HP:0032606": [ "renal tubular epithelial lipofuscin" ], "HP:0032607": [ "renal tubular epithelial cell swell", "renal tubular epithelial cell swelling" ], "HP:0032608": [ "thyroidization - type tubular atrophy" ], "HP:0032609": [ "endocrine - type tubular atrophy", "endocrinization pattern of tubular atrophy", "renal tubular atrophy , endocrine - type" ], "HP:0032610": [ "tubulointerstitial mycobacterial infiltration", "renal tubulointerstitial mycobacterial organism", "renal tubulointerstitial mycobacterial organisms" ], "HP:0032611": [ "renal tubular epithelial cell hemosiderin" ], "HP:0032612": [ "triphalangeal hallux" ], "HP:0032613": [ "renal interstitial amyloid deposit", "renal interstitial amyloid deposits", "renal interstitial amyloid", "renal interstitial amyloid deposition", "renal interstitial amyloidosis" ], "HP:0032614": [ "renal glomerular amyloid deposition" ], "HP:0032615": [ "abnormal diffusion weight cerebral mri morphology", "abnormal diffusion weighted cerebral mri morphology", "diffusion weight imaging ( dwi ) abnormality", "diffusion weighted imaging ( dwi ) abnormality", "diffusion weight magnetic resonance imaging ( dwi ) abnormality", "diffusion weighted magnetic resonance imaging ( dwi ) abnormality", "mri diffusion abnormality of the cerebrum" ], "HP:0032616": [ "renal interstitial immunoglobulin deposit", "renal interstitial immunoglobulin deposits", "renal interstitial immunoglobulin deposition" ], "HP:0032617": [ "renal interstitial hemorrhage", "renal interstitial haemorrhage" ], "HP:0032618": [ "renal necrosis", "renal parenchymal necrosis" ], "HP:0032619": [ "perinephric abscess" ], "HP:0032620": [ "intrarenal abscess", "renal abscess", "renal parenchymal abcess" ], "HP:0032621": [ "hyperchromasia of renal tubular epithelial cell", "hyperchromasia of renal tubular epithelial cells", "condense chromatin of renal tubular epithelial cell", "condensed chromatin of renal tubular epithelial cells" ], "HP:0032622": [ "tubular luminal dilatation" ], "HP:0032623": [ "renal intratubular cast", "renal intratubular casts", "tubular cast", "tubular casts" ], "HP:0032624": [ "intratubular bilirubin cast", "intratubular bilirubin casts" ], "HP:0032625": [ "intratubular erythrocyte cast" ], "HP:0032626": [ "intratubular vancomycin cast", "intratubular vancomycin casts" ], "HP:0032627": [ "intratubular leukocyte cast", "intratubular leukocyte casts" ], "HP:0032628": [ "renal intratubular crystal", "renal intratubular crystals" ], "HP:0032629": [ "intratubular dihydroxyadenuria crystal", "intratubular dihydroxyadenuria crystals" ], "HP:0032630": [ "intratubular light - chain cast", "intratubular light - chain casts" ], "HP:0032631": [ "intratubular hemoglobin cast", "intratubular hemoglobin casts", "intratubular haemoglobin cast", "intratubular haemoglobin casts" ], "HP:0032632": [ "renal papillary necrosis" ], "HP:0032633": [ "intratubular hyaline cast", "intratubular hyaline casts", "intratubular tamm - horsfall ( uromodulin ) cast", "intratubular tamm - horsfall ( uromodulin ) casts" ], "HP:0032634": [ "intratubular myoglobin cast" ], "HP:0032635": [ "tubulointerstitial microganismal infiltration" ], "HP:0032636": [ "tubulointerstitial viral infiltration", "renal tubulointerstitial viral inclusion", "renal tubulointerstitial viral inclusions" ], "HP:0032637": [ "renal interstitial edema", "renal interstitial oedema" ], "HP:0032638": [ "elevate urine mevalonic acid", "elevated urine mevalonic acid", "elevate urine mevalonate", "elevated urine mevalonate", "elevate urine mevalonate level", "elevated urine mevalonate levels", "mevalonate aciduria" ], "HP:0032639": [ "elevate leukocyte cystine", "elevated leukocyte cystine" ], "HP:0032640": [ "elevate circulate ccl18 level", "elevated circulating ccl18 level", "increase c - c motif chemokine ligand 18 concentration", "increased c - c motif chemokine ligand 18 concentration" ], "HP:0032641": [ "renal interstitial granuloma", "renal interstitial granulomas", "renal interstitial granulomata" ], "HP:0032642": [ "renal interstitial necrotizing granuloma", "renal interstitial necrotizing granulomas", "renal interstitial necrotizing granulomata" ], "HP:0032643": [ "renal interstitial non - necrotizing granuloma", "renal interstitial non - necrotizing granulomas", "renal interstitial non - necrotizing granulomata" ], "HP:0032644": [ "renal interstitial deposit", "renal interstitial deposits" ], "HP:0032645": [ "renal interstitial mononuclear cell infiltration" ], "HP:0032646": [ "renal interstitial xanthogranulomatous inflammation" ], "HP:0032647": [ "renal tubular epithelial cell apoptosis" ], "HP:0032648": [ "tubularization of bowman capsule" ], "HP:0032649": [ "skewfoot", "skew foot", "skew - foot" ], "HP:0032650": [ "elevate csf glial fibrillary acidic protein level", "elevated csf glial fibrillary acidic protein level" ], "HP:0032651": [ "elevate csf chitinase - 3 - like protein 1 level", "elevated csf chitinase - 3 - like protein 1 level" ], "HP:0032652": [ "elevate csf chitotriosidase 1 level", "elevated csf chitotriosidase 1 level" ], "HP:0032653": [ "elevate lactate : pyruvate ratio", "elevated lactate : pyruvate ratio" ], "HP:0032654": [ "impair flow - mediate arterial dilatation", "impaired flow - mediated arterial dilatation", "endothelial dysfunction" ], "HP:0032655": [ "decrease adipose tissue tocopherol level", "decreased adipose tissue tocopherol level" ], "HP:0032656": [ "febrile status epilepticus", "fever - induced status epilepticus" ], "HP:0032657": [ "elevate circulate lyso - globotriaosylsphingosine concentration", "elevated circulating lyso - globotriaosylsphingosine concentration" ], "HP:0032658": [ "status epilepticus with prominent motor symptom", "status epilepticus with prominent motor symptoms" ], "HP:0032659": [ "non - convulsive status epilepticus with coma", "subtle status epilepticus" ], "HP:0032660": [ "convulsive status epilepticus", "tonic - clonic status epilepticus" ], "HP:0032661": [ "generalize convulsive status epilepticus", "generalized convulsive status epilepticus", "generalise convulsive status epilepticus", "generalised convulsive status epilepticus" ], "HP:0032662": [ "focal - onset seizure evolve into bilateral convulsive status epilepticus", "focal - onset seizure evolving into bilateral convulsive status epilepticus", "focal onset seizure evolve into bilateral convulsive status epilepticus", "focal onset seizure evolving into bilateral convulsive status epilepticus", "focal - onset seizure evolve into generalise convulsive status epilepticus", "focal - onset seizure evolving into generalised convulsive status epilepticus", "focal - onset seizure evolve into generalize convulsive status epilepticus", "focal - onset seizure evolving into generalized 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", "partial - onset seizure evolving into convulsive status epilepticus", "secondarily generalise convulsive status epilepticus", "secondarily generalised convulsive status epilepticus", "secondarily generalise tonic - clonic status epilepticus", "secondarily generalised tonic - clonic status epilepticus", "secondarily generalize convulsive status epilepticus", "secondarily generalized convulsive status epilepticus", "secondarily generalize tonic - clonic status epilepticus", "secondarily generalized tonic - clonic status epilepticus" ], "HP:0032663": [ "focal motor status epilepticus" ], "HP:0032664": [ "adversive status epilepticus" ], "HP:0032665": [ "repeat focal motor seizure", "repeated focal motor seizures", "jacksonian status epilepticus" ], "HP:0032666": [ "hyperkinetic status epilepticus" ], "HP:0032667": [ "myoclonic status epilepticus" ], "HP:0032668": [ "myoclonic status epilepticus without coma" ], "HP:0032669": [ "myoclonic status epilepticus with coma" ], "HP:0032670": [ "tonic status epilepticus" ], "HP:0032671": [ "non - convulsive status epilepticus without coma" ], "HP:0032672": [ "autonomic status epilepticus" ], "HP:0032673": [ "focal non - convulsive status epilepticus without coma" ], "HP:0032674": [ "cutaneous wound", "skin wound" ], "HP:0032675": [ "acute cutaneous wound" ], "HP:0032676": [ "chronic cutaneous wound", "chronic nonhealing cutaneous wound" ], "HP:0032677": [ "generalize - onset motor seizure", "generalized - onset motor seizure", "generalise onset motor seizure", "generalised onset motor seizure", "generalise - onset motor seizure", "generalised - onset motor seizure", "generalize onset motor seizure", "generalized onset motor seizure" ], "HP:0032678": [ "eyelid myoclonia seizure" ], "HP:0032679": [ "focal non - motor seizure", "focal seizure without motor onset", "partial seizure without motor onset" ], "HP:0032680": [ "obsolete psychic aura", "obsolete psychic auras", "focal cognitive seizure", "cognitive aura", "cognitive seizure", "partial cognitive seizure" ], "HP:0032681": [ "focal aware cognitive seizure", "obsolete focal aware cognitive seizure with impaired attention", "obsolete focal aware cognitive seizure with impaired responsiveness" ], "HP:0032683": [ "focal aware cognitive seizure", "obsolete focal aware cognitive seizure with impaired attention", "obsolete focal aware cognitive seizure with impaired responsiveness" ], "HP:0032881": [ "focal aware cognitive seizure", "obsolete focal aware cognitive seizure with impaired attention", "obsolete focal aware cognitive seizure with impaired responsiveness" ], "HP:0032682": [ "focal aware non - motor seizure", "focal non - motor aware seizure" ], "HP:0032684": [ "focal aware cognitive seizure with auditory agnosia" ], "HP:0032685": [ "focal cognitive seizure with auditory agnosia" ], "HP:0032686": [ "focal aware cognitive seizure with memory impairment" ], "HP:0032687": [ "focal cognitive seizure with memory impairment", "amnestic aura", "amnestic seizure" ], "HP:0032688": [ "focal aware cognitive seizure with dissociation" ], "HP:0032689": [ "focal cognitive seizure with dissociation" ], "HP:0032690": [ "focal aware cognitive seizure with dyscalculia / acalculia" ], "HP:0032691": [ "focal cognitive seizure with dyscalculia / acalculia" ], "HP:0032692": [ "focal cognitive seizure with forced thinking" ], "HP:0032693": [ "focal cognitive seizure with neglect" ], "HP:0032694": [ "focal cognitive seizure with dyslexia / alexia" ], "HP:0032696": [ "focal cognitive seizure with receptive dysphasia / aphasia" ], "HP:0032698": [ "focal cognitive seizure with conduction dysphasia / aphasia" ], "HP:0032699": [ "focal cognitive seizure with dysgraphia / agraphia" ], "HP:0032700": [ "focal cognitive seizure with left - right confusion" ], "HP:0032701": [ "focal cognitive seizure with anomia" ], "HP:0032702": [ "focal cognitive seizure with expressive dysphasia / aphasia" ], "HP:0032704": [ "focal aware cognitive seizure with illusion" ], "HP:0032705": [ "focal aware cognitive seizure with forced thinking" ], "HP:0032706": [ "focal aware cognitive seizure with left - right confusion" ], "HP:0032707": [ "focal aware cognitive seizure with dyslexia / alexia" ], "HP:0032708": [ "focal aware cognitive seizure with anomia" ], "HP:0032709": [ "focal aware cognitive seizure with dysgraphia / agraphia" ], "HP:0032710": [ "focal aware cognitive seizure with receptive dysphasia / aphasia" ], "HP:0032711": [ "focal aware clonic seizure" ], "HP:0032712": [ "focal impair awareness motor seizure", "focal impaired awareness motor seizure", "focal motor impair awareness seizure", "focal motor impaired awareness seizure" ], "HP:0032713": [ "focal impair awareness motor seizure with version", "focal impaired awareness motor seizure with version", "focal motor impair awareness seizure with version", "focal motor impaired awareness seizure with version" ], "HP:0032714": [ "focal impair awareness bilateral motor seizure", "focal impaired awareness bilateral motor seizure" ], "HP:0032715": [ "focal bilateral motor seizure" ], "HP:0032716": [ "focal impair awareness non - motor seizure", "focal impaired awareness non - motor seizure", "focal non - motor impaired awareness seizure" ], "HP:0032717": [ "focal impair awareness motor seizure with dystonia", "focal impaired awareness motor seizure with dystonia", "focal motor impair awareness seizure with dystonia", "focal motor impaired awareness seizure with dystonia" ], "HP:0032718": [ "focal motor seizure with dystonia" ], "HP:0032719": [ "focal impair awareness motor seizure with dysarthria / anarthria", "focal impaired awareness motor seizure with dysarthria / anarthria", "focal motor impair awareness seizure with dysarthria / anarthria", "focal motor impaired awareness seizure with dysarthria / anarthria" ], "HP:0032720": [ "focal motor seizure with dysarthria / anarthria" ], "HP:0032721": [ "focal motor seizure with paresis / paralysis" ], "HP:0032722": [ "focal aware tonic seizure" ], "HP:0032723": [ "focal aware motor seizure with dystonia", "focal motor aware seizure with dystonia" ], "HP:0032724": [ "focal impair awareness tonic seizure", "focal impaired awareness tonic seizure" ], "HP:0032725": [ "focal impair awareness clonic seizure", "focal impaired awareness clonic seizure" ], "HP:0032726": [ "focal impair awareness hyperkinetic seizure", "focal impaired awareness hyperkinetic seizure" ], "HP:0032727": [ "focal emotional seizure with agitation" ], "HP:0032728": [ "focal impair awareness atonic seizure", "focal impaired awareness atonic seizure" ], "HP:0032729": [ "focal emotional seizure with pleasure" ], "HP:0032730": [ "focal impair awareness myoclonic seizure", "focal impaired awareness myoclonic seizure" ], "HP:0032731": [ "focal aware hyperkinetic seizure" ], "HP:0032732": [ "focal aware motor seizure with paresis / paralysis", "focal motor aware seizure with paresis / paralysis" ], "HP:0032733": [ "focal aware motor seizure with dysarthria / anarthria", "focal motor aware seizure with dysarthria / anarthria" ], "HP:0032734": [ "focal aware emotional seizure" ], "HP:0032735": [ "focal aware emotional seizure with anger" ], "HP:0032736": [ "focal emotional seizure with anger" ], "HP:0032737": [ "focal emotional seizure with paranoia" ], "HP:0032738": [ "focal aware emotional seizure with fear / anxiety / panic" ], "HP:0032739": [ "focal emotional seizure with fear / anxiety / panic" ], "HP:0032740": [ "obsolete focal autonomic seizure without altered responsiveness", "obsolete focal autonomic seizures without altered responsiveness", "focal aware autonomic seizure", "focal autonomic seizure without altered responsiveness", "focal autonomic seizures without altered responsiveness", "localise autonomic seizure without altered responsiveness", "localised autonomic seizures without altered responsiveness", "localize autonomic seizure without altered responsiveness", "localized autonomic seizures without altered responsiveness", "partial autonomic seizure without altered responsiveness", "partial autonomic seizures without altered responsiveness" ], "HP:0032741": [ "focal aware emotional seizure with paranoia" ], "HP:0032742": [ "focal aware emotional seizure with pleasure" ], "HP:0032743": [ "focal aware emotional seizure with cry", "focal aware emotional seizure with crying" ], "HP:0032744": [ "focal aware emotional seizure with agitation" ], "HP:0032745": [ "focal aware emotional seizure with laugh", "focal aware emotional seizure with laughing" ], "HP:0032746": [ "focal impair awareness emotional seizure", "focal impaired awareness emotional seizure" ], "HP:0032747": [ "focal impair awareness emotional seizure with pleasure", "focal impaired awareness emotional seizure with pleasure" ], "HP:0032748": [ "focal impair awareness emotional seizure with anger", "focal impaired awareness emotional seizure with anger" ], "HP:0032749": [ "focal impair awareness emotional seizure with paranoia", "focal impaired awareness emotional seizure with paranoia" ], "HP:0032750": [ "focal impair awareness emotional seizure with laugh", "focal impaired awareness emotional seizure with laughing" ], "HP:0032751": [ "focal impair awareness emotional seizure with cry", "focal impaired awareness emotional seizure with crying" ], "HP:0032752": [ "focal impair awareness emotional seizure with fear / anxiety / panic", "focal impaired awareness emotional seizure with fear / anxiety / panic" ], "HP:0032753": [ "focal impair awareness emotional seizure with agitation", "focal impaired awareness emotional seizure with agitation" ], "HP:0032754": [ "focal aware sensory seizure" ], "HP:0032755": [ "obsolete focal autonomic seizure with altered responsiveness", "obsolete focal autonomic seizures with altered responsiveness", "focal impair awareness autonomic seizure", "focal impaired awareness autonomic seizure", "focal autonomic seizure with altered responsiveness", "localise autonomic seizure with altered responsiveness", "localised autonomic seizure with altered responsiveness", "localize autonomic seizure with altered responsiveness", "localized autonomic seizure with altered responsiveness", "partial autonomic seizure with altered responsiveness" ], "HP:0032756": [ "focal impair awareness cognitive seizure", "focal impaired awareness cognitive seizure", "obsolete focal impaired awareness cognitive seizure with impaired responsiveness", "obsolete focal impaired awareness cognitive seizure with impaired attention" ], "HP:0032875": [ "focal impair awareness cognitive seizure", "focal impaired awareness cognitive seizure", "obsolete focal impaired awareness cognitive seizure with impaired responsiveness", "obsolete focal impaired awareness cognitive seizure with impaired attention" ], "HP:0032931": [ "focal impair awareness cognitive seizure", "focal impaired awareness cognitive seizure", "obsolete focal impaired awareness cognitive seizure with impaired responsiveness", "obsolete focal impaired awareness cognitive seizure with impaired attention" ], "HP:0032757": [ "focal aware hemiclonic seizure" ], "HP:0032758": [ "focal aware myoclonic seizure" ], "HP:0032759": [ "focal sensory seizure with vestibular feature", "focal sensory seizure with vestibular features", "focal vestibular seizure", "partial vestibular seizure", "vestibular aura" ], "HP:0032760": [ "focal sensory seizure with hot - cold sensation", "focal sensory seizure with hot - cold sensations" ], "HP:0032761": [ "focal aware autonomic seizure with pallor / flushing" ], "HP:0032762": [ "focal autonomic seizure with pallor / flushing" ], "HP:0032763": [ "focal autonomic seizure with pupillary dilation / constriction" ], "HP:0032764": [ "focal autonomic seizure with erection" ], "HP:0032765": [ "focal autonomic seizure with urge to urinate / defecate" ], "HP:0032766": [ "focal autonomic seizure with hypoventilation / hyperventilation / alter respiration", "focal autonomic seizure with hypoventilation / hyperventilation / altered respiration" ], "HP:0032767": [ "focal autonomic seizure with piloerection" ], "HP:0032768": [ "focal aware autonomic seizure with pupillary dilation / constriction" ], "HP:0032769": [ "focal aware autonomic seizure with hypoventilation / hyperventilation / alter respiration", "focal aware autonomic seizure with hypoventilation / hyperventilation / altered respiration" ], "HP:0032770": [ "focal aware autonomic seizure with erection" ], "HP:0032771": [ "focal autonomic seizure with lacrimation" ], "HP:0032772": [ "focal impair awareness autonomic seizure with piloerection", "focal impaired awareness autonomic seizure with piloerection" ], "HP:0032773": [ "focal autonomic seizure with palpitation / tachycardia / bradycardia / asystole", "focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole" ], "HP:0032774": [ "focal impair awareness autonomic seizure with urge to urinate / defecate", "focal impaired awareness autonomic seizure with urge to urinate / defecate" ], "HP:0032775": [ "focal impair awareness autonomic seizure with hypoventilation / hyperventilation / alter respiration", "focal impaired awareness autonomic seizure with hypoventilation / hyperventilation / altered respiration" ], "HP:0032776": [ "focal aware autonomic seizure with lacrimation" ], "HP:0032777": [ "focal impair awareness autonomic seizure with pallor / flushing", "focal impaired awareness autonomic seizure with pallor / flushing" ], "HP:0032778": [ "focal impair awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon", "focal impaired awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena" ], "HP:0032779": [ "focal impair awareness autonomic seizure with pupillary dilation / constriction", "focal impaired awareness autonomic seizure with pupillary dilation / constriction" ], "HP:0032780": [ "focal impair awareness autonomic seizure with erection", "focal impaired awareness autonomic seizure with erection" ], "HP:0032781": [ "focal aware autonomic seizure with urge to urinate / defecate" ], "HP:0032782": [ "focal impair awareness autonomic seizure with lacrimation", "focal impaired awareness autonomic seizure with lacrimation" ], "HP:0032783": [ "focal aware autonomic seizure with piloerection" ], "HP:0032784": [ "focal aware autonomic seizure with palpitation / tachycardia / bradycardia / asystole", "focal aware autonomic seizure with palpitations / tachycardia / bradycardia / asystole" ], "HP:0032785": [ "focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon", "focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena" ], "HP:0032786": [ "migrate focal seizure", "migrating focal seizure", "migrate partial seizure", "migrating partial seizure" ], "HP:0032787": [ "focal impair awareness sensory seizure", "focal impaired awareness sensory seizure" ], "HP:0032788": [ "focal impair awareness autonomic seizure with palpitation / tachycardia / bradycardia / asystole", "focal impaired awareness autonomic seizure with palpitations / tachycardia / bradycardia / asystole" ], "HP:0032789": [ "focal aware behavior arrest seizure", "focal aware behaviour arrest seizure" ], "HP:0032790": [ "focal impair awareness behavior arrest seizure", "focal impaired awareness behavior arrest seizure", "focal impair awareness behaviour arrest seizure", "focal impaired awareness behaviour arrest seizure" ], "HP:0032791": [ "focal impair awareness cognitive seizure with anomia", "focal impaired awareness cognitive seizure with anomia" ], "HP:0032792": [ "tonic seizure" ], "HP:0032793": [ "focal impair awareness cognitive seizure with receptive dysphasia / aphasia", "focal impaired awareness cognitive seizure with receptive dysphasia / aphasia" ], "HP:0032794": [ "myoclonic seizure" ], "HP:0032795": [ "generalize myoclonic - tonic - clonic seizure", "generalized myoclonic - tonic - clonic seizure", "generalise myoclonic - tonic - clonic seizure", "generalised myoclonic - tonic - clonic seizure", "generalise onset myoclonic - tonic - clonic seizure", "generalised onset myoclonic - tonic - clonic seizure", "generalise - onset myoclonic - tonic - clonic seizure", "generalised - onset myoclonic - tonic - clonic seizure", "generalize onset myoclonic - tonic - clonic seizure", "generalized onset myoclonic - tonic - clonic seizure", "generalize - onset myoclonic - tonic - clonic seizure", "generalized - onset myoclonic - tonic - clonic seizure" ], "HP:0032796": [ "focal impair awareness cognitive seizure with left - right confusion", "focal impaired awareness cognitive seizure with left - right confusion" ], "HP:0032797": [ "focal aware sensory seizure with olfactory feature", "focal aware sensory seizure with olfactory features" ], "HP:0032798": [ "focal impair awareness cognitive seizure with neglect", "focal impaired awareness cognitive seizure with neglect" ], "HP:0032799": [ "focal impair awareness hemiclonic seizure", "focal impaired awareness hemiclonic seizure" ], "HP:0032800": [ "focal aware sensory seizure with vestibular feature", "focal aware sensory seizure with vestibular features" ], "HP:0032801": [ "focal impair awareness cognitive seizure with memory impairment", "focal impaired awareness cognitive seizure with memory impairment" ], "HP:0032802": [ "focal impair awareness cognitive seizure with dyscalculia / acalculia", "focal impaired awareness cognitive seizure with dyscalculia / acalculia" ], "HP:0032803": [ "focal impair awareness cognitive seizure with dysgraphia / agraphia", "focal impaired awareness cognitive seizure with dysgraphia / agraphia" ], "HP:0032804": [ "focal impair awareness sensory seizure with olfactory feature", "focal impaired awareness sensory seizure with olfactory features" ], "HP:0032805": [ "focal impair awareness sensory seizure with vestibular feature", "focal impaired awareness sensory seizure with vestibular features" ], "HP:0032806": [ "focal impair awareness sensory seizure with visual feature", "focal impaired awareness sensory seizure with visual features" ], "HP:0032807": [ "neonatal seizure" ], "HP:0032808": [ "neonatal seizure with electrographic correlate" ], "HP:0032809": [ "neonatal electro - clinical seizure" ], "HP:0032810": [ "focal sensory seizure with cephalic sensation", "cephalic aura", "focal seizure with cephalic sensation", "partial seizure with cephalic sensation" ], "HP:0032811": [ "neonatal electrographic only seizure" ], "HP:0032812": [ "neonatal electro - clinical non - motor seizure" ], "HP:0032813": [ "neonatal electro - clinical motor seizure" ], "HP:0032814": [ "neonatal electro - clinical clonic seizure", "neonatal electroclinical clonic seizure" ], "HP:0032815": [ "neonatal electro - clinical myoclonic seizure", "neonatal electroclinical myoclonic seizure" ], "HP:0032816": [ "neonatal multifocal myoclonic seizure" ], "HP:0032817": [ "neonatal focal myoclonic seizure" ], "HP:0032818": [ "neonatal focal clonic seizure" ], "HP:0032819": [ "neonatal bilateral clonic seizure" ], "HP:0032820": [ "neonatal multifocal clonic seizure" ], "HP:0032821": [ "neonatal electro - clinical tonic seizure" ], "HP:0032822": [ "neonatal electro - clinical autonomic seizure" ], "HP:0032823": [ "neonatal electro - clinical seizure with behavior arrest", "neonatal electro - clinical seizure with behaviour arrest", "neonatal electroclinical seizure with behavioural arrest" ], "HP:0032824": [ "neonatal focal tonic seizure" ], "HP:0032825": [ "neonatal electro - clinical sequential seizure", "neonatal electroclinical sequential seizure" ], "HP:0032826": [ "focal neonatal sequential seizure" ], "HP:0032827": [ "multifocal neonatal sequential seizure" ], "HP:0032828": [ "neonatal bilateral symmetric tonic seizure" ], "HP:0032829": [ "neonatal electro - clinical motor seizure with automatism", "neonatal electroclinical motor seizure with automatism" ], "HP:0032830": [ "neonatal seizure with bilateral asymmetric automatism" ], "HP:0032831": [ "neonatal bilateral asymmetric tonic seizure" ], "HP:0032832": [ "neonatal bilateral asymmetric myoclonic seizure" ], "HP:0032833": [ "neonatal epileptic spasm" ], "HP:0032834": [ "neonatal seizure with unilateral automatism" ], "HP:0032835": [ "neonatal seizure with bilateral symmetric automatism" ], "HP:0032836": [ "neonatal bilateral symmetric myoclonic seizure" ], "HP:0032837": [ "bilateral asymmetric neonatal sequential seizure" ], "HP:0032838": [ "neonatal unilateral epileptic spasm" ], "HP:0032839": [ "bilateral symmetric neonatal sequential seizure" ], "HP:0032840": [ "neonatal bilateral symmetric epileptic spasm" ], "HP:0032841": [ "neonatal bilateral asymmetric epileptic spasm" ], "HP:0032842": [ "generalize - onset epileptic spasm", "generalized - onset epileptic spasm", "generalise onset epileptic spasm", "generalised onset epileptic spasm", "generalise - onset epileptic spasm", "generalised - onset epileptic spasm", "generalize onset epileptic spasm", "generalized onset epileptic spasm" ], "HP:0032843": [ "focal - onset epileptic spasm", "focal onset epileptic spasm" ], "HP:0032844": [ "focal impair awareness epileptic spasm", "focal impaired awareness epileptic spasm" ], "HP:0032845": [ "focal aware epileptic spasm" ], "HP:0032846": [ "focal motor seizure with negative myoclonus" ], "HP:0032847": [ "focal impair awareness hemifacial clonic seizure", "focal impaired awareness hemifacial clonic seizure" ], "HP:0032848": [ "focal aware cognitive seizure with neglect" ], "HP:0032849": [ "aphasic status epilepticus" ], "HP:0032850": [ "focal aware cognitive seizure with expressive dysphasia / aphasia" ], "HP:0032851": [ "focal aware sensory seizure with visual feature", "focal aware sensory seizure with visual features" ], "HP:0032852": [ "focal impair awareness cognitive seizure with conduction dysphasia / aphasia", "focal impaired awareness cognitive seizure with conduction dysphasia / aphasia" ], "HP:0032853": [ "focal impair awareness sensory seizure with hot - cold sensation", "focal impaired awareness sensory seizure with hot - cold sensations" ], "HP:0032854": [ "focal aware hemifacial clonic seizure" ], "HP:0032855": [ "photosensitive myoclonic - tonic - clonic seizure", "photically induce myoclonic - tonic - clonic seizure", "photically induced myoclonic - tonic - clonic seizure" ], "HP:0032856": [ "focal aware bilateral motor seizure" ], "HP:0032857": [ "focal aware motor seizure with negative myoclonus", "focal motor aware seizure with negative myoclonus" ], "HP:0032858": [ "focal impair awareness motor seizure with negative myoclonus", "focal impaired awareness motor seizure with negative myoclonus", "focal motor impair awareness seizure with negative myoclonus", "focal motor impaired awareness seizure with negative myoclonus" ], "HP:0032859": [ "focal impair awareness motor seizure with paresis / paralysis", "focal impaired awareness motor seizure with paresis / paralysis", "focal motor impair awareness seizure with paresis / paralysis", "focal motor impaired awareness seizure with paresis / paralysis" ], "HP:0032860": [ "generalize non - convulsive status epilepticus without coma", "generalized non - convulsive status epilepticus without coma", "absence status epilepticus", "generalise non - convulsive status epilepticus without coma", "generalised non - convulsive status epilepticus without coma", "petit mal status epilepticus" ], "HP:0032861": [ "focal non - convulsive status epilepticus with impairment of consciousness", "focal non - convulsive status epilepticus with impairment of awareness" ], "HP:0032862": [ "status epilepticus with ictal paresis", "focal inhibitory status epilepticus" ], "HP:0032863": [ "typical absence status epilepticus", "simple absence status epilepticus" ], "HP:0032864": [ "focal aware sensory seizure with auditory feature", "focal aware sensory seizure with auditory features" ], "HP:0032865": [ "myoclonic absence status epilepticus" ], "HP:0032866": [ "oculoclonic status epilepticus" ], "HP:0032867": [ "refractory status epilepticus" ], "HP:0032868": [ "super - refractory status epilepticus" ], "HP:0032869": [ "focal non - convulsive status epilepticus without impairment of consciousness", "aura continuum", "aura continua", "focal non - convulsive status epilepticus with retained awareness", "focal non - convulsive status epilepticus without impairment of awareness" ], "HP:0032870": [ "focal impair awareness cognitive seizure with dyslexia / alexia", "focal impaired awareness cognitive seizure with dyslexia / alexia" ], "HP:0032871": [ "focal aware cognitive seizure with hallucination" ], "HP:0032872": [ "focal impair awareness cognitive seizure with illusion", "focal impaired awareness cognitive seizure with illusion" ], "HP:0032873": [ "focal aware sensory seizure with cephalic sensation" ], "HP:0032874": [ "focal impair awareness cognitive seizure with auditory agnosia", "focal impaired awareness cognitive seizure with auditory agnosia" ], "HP:0032876": [ "focal aware cognitive seizure with conduction dysphasia / aphasia" ], "HP:0032877": [ "focal aware sensory seizure with hot - cold sensation", "focal aware sensory seizure with hot - cold sensations" ], "HP:0032878": [ "focal impair awareness sensory seizure with cephalic sensation", "focal impaired awareness sensory seizure with cephalic sensation" ], "HP:0032879": [ "focal impair awareness seizure with dissociation at onset", "focal impaired awareness seizure with dissociation at onset" ], "HP:0032880": [ "focal impair awareness sensory seizure with auditory feature", "focal impaired awareness sensory seizure with auditory features" ], "HP:0032882": [ "focal impair awareness cognitive seizure with deja vu / jamais vu", "focal impaired awareness cognitive seizure with deja vu / jamais vu" ], "HP:0032883": [ "focal aware cognitive seizure with deja vu / jamais vu" ], "HP:0032884": [ "focal aware sensory seizure with somatosensory feature", "focal aware sensory seizure with somatosensory features" ], "HP:0032885": [ "focal impair awareness cognitive seizure with hallucination", "focal impaired awareness cognitive seizure with hallucination" ], "HP:0032886": [ "focal impair awareness cognitive seizure with expressive dysphasia / aphasia", "focal impaired awareness cognitive seizure with expressive dysphasia / aphasia" ], "HP:0032887": [ "generalize atonic seizure", "generalized atonic seizure", "generalise atonic seizure", "generalised atonic seizure" ], "HP:0032888": [ "focal impair awareness cognitive seizure with forced thinking", "focal impaired awareness cognitive seizure with forced thinking" ], "HP:0032889": [ "focal aware sensory seizure with gustatory feature", "focal aware sensory seizure with gustatory features" ], "HP:0032890": [ "focal impair awareness sensory seizure with somatosensory feature", "focal impaired awareness sensory seizure with somatosensory features" ], "HP:0032891": [ "focal aware motor seizure with version", "focal motor aware seizure with version" ], "HP:0032892": [ "infection - related seizure" ], "HP:0032893": [ "gastroenteritis - relate afebrile seizure", "gastroenteritis - related afebrile seizure" ], "HP:0032894": [ "seizure precipitate by febrile infection", "seizure precipitated by febrile infection", "fever induced seizure" ], "HP:0032895": [ "febrile seizure outside the age of 3 month to 6 year", "febrile seizure outside the age of 3 months to 6 years" ], "HP:0032896": [ "music - induced seizure" ], "HP:0032897": [ "focal impair awareness sensory seizure with gustatory feature", "focal impaired awareness sensory seizure with gustatory features" ], "HP:0032898": [ "focal automatism seizure" ], "HP:0032899": [ "focal orofacial automatism seizure" ], "HP:0032900": [ "focal manual automatism seizure" ], "HP:0032901": [ "focal pedal automatism seizure" ], "HP:0032902": [ "focal perseverative automatism seizure" ], "HP:0032903": [ "focal vocal automatism seizure" ], "HP:0032904": [ "focal verbal automatism seizure" ], "HP:0032905": [ "focal sexual automatism seizure" ], "HP:0032906": [ "focal head nod automatism seizure", "focal head nodding automatism seizure" ], "HP:0032907": [ "focal undress automatism seizure", "focal undressing automatism seizure" ], "HP:0032908": [ "focal aware undress automatism seizure", "focal aware undressing automatism seizure" ], "HP:0032909": [ "focal impair awareness automatism seizure", "focal impaired awareness automatism seizure" ], "HP:0032910": [ "focal aware automatism seizure" ], "HP:0032911": [ "focal aware orofacial automatism seizure" ], "HP:0032912": [ "focal aware manual automatism seizure" ], "HP:0032913": [ "focal aware pedal automatism seizure" ], "HP:0032914": [ "focal aware perseverative automatism seizure" ], "HP:0032915": [ "focal aware vocal automatism seizure" ], "HP:0032916": [ "focal aware verbal automatism seizure" ], "HP:0032917": [ "focal aware sexual automatism seizure" ], "HP:0032918": [ "focal impair awareness orofacial automatism seizure", "focal impaired awareness orofacial automatism seizure" ], "HP:0032919": [ "focal aware head nod automatism seizure", "focal aware head nodding automatism seizure" ], "HP:0032920": [ "focal impair awareness manual automatism seizure", "focal impaired awareness manual automatism seizure" ], "HP:0032921": [ "focal impair awareness pedal automatism seizure", "focal impaired awareness pedal automatism seizure" ], "HP:0032922": [ "focal impair awareness perseverative automatism seizure", "focal impaired awareness perseverative automatism seizure" ], "HP:0032923": [ "focal impair awareness vocal automatism seizure", "focal impaired awareness vocal automatism seizure" ], "HP:0032924": [ "focal impair awareness verbal automatism seizure", "focal impaired awareness verbal automatism seizure" ], "HP:0032925": [ "focal impair awareness sexual automatism seizure", "focal impaired awareness sexual automatism seizure" ], "HP:0032926": [ "focal impair awareness head nod automatism seizure", "focal impaired awareness head nodding automatism seizure" ], "HP:0032927": [ "focal impair awareness undressing automatism seizure", "focal impaired awareness undressing automatism seizure" ], "HP:0032928": [ "elevate csf neurofilamant light chain", "elevated csf neurofilamant light chain" ], "HP:0032929": [ "abnormal chondrocyte morphology" ], "HP:0032930": [ "lacunar halo around chondrocytes", "lacunar halos around chondrocytes" ], "HP:0032932": [ "increase circulate pancreatic triacylglycerol lipase level", "increased circulating pancreatic triacylglycerol lipase level", "elevate circulate pancreatic triacylglycerol lipase activity", "elevated circulating pancreatic triacylglycerol lipase activity" ], "HP:0032933": [ "airway hyperresponsiveness" ], "HP:0032934": [ "spontaneous cerebrospinal fluid leak" ], "HP:0032935": [ "posterior crocodile shagreen of the cornea" ], "HP:0032936": [ "intrusion symptom", "re - experience symptom", "re - experiencing symptom" ], "HP:0032937": [ "recurrent , involuntary and intrusive distressing memory", "recurrent , involuntary and intrusive distressing memories" ], "HP:0032938": [ "recurrent trauma - related distressing dream", "recurrent trauma - related distressing dreams" ], "HP:0032939": [ "physiological reactivity to cue", "physiological reactivity to cues" ], "HP:0032940": [ "dissociative reaction" ], "HP:0032941": [ "intense psychological distress to cue", "intense psychological distress to cues" ], "HP:0032942": [ "avoidance of stimulus associate with traumatic event", "avoidance of stimuli associated with traumatic event" ], "HP:0032943": [ "abnormal urine ph" ], "HP:0032944": [ "alkaline urine" ], "HP:0032945": [ "renal interstitial inflammation" ], "HP:0032946": [ "renal cortical interstitial inflammation" ], "HP:0032947": [ "renal medullary interstitial inflammation" ], "HP:0032948": [ "renal interstitial fibrosis" ], "HP:0032949": [ "renal interstitial calcium phosphate deposit", "renal interstitial calcium phosphate deposits" ], "HP:0032950": [ "abnormal renal tubular lumen morphology", "abnormal renal tubular luminal morphology" ], "HP:0032951": [ "renal tubular viral cytopathic change", "renal tubular viral cytopathic changes" ], "HP:0032952": [ "usual - type tubular atrophy", "common - type renal tubular atrophy" ], "HP:0032953": [ "renal tubular cytomegalovirus inclusion", "renal tubular cytomegalovirus inclusions" ], "HP:0032954": [ "renal tubular adenovirus inclusion", "renal tubular adenovirus inclusions" ], "HP:0032955": [ "renal tubular polyoma virus inclusion", "renal tubular polyoma virus inclusions" ], "HP:0032956": [ "renal tubular herpes simplex virus inclusion", "renal tubular herpes simplex virus inclusions" ], "HP:0032957": [ "dysmorphic hematuria", "acanthocyturia" ], "HP:0032958": [ "urinary oval fat body", "urinary oval fat bodies" ], "HP:0032959": [ "intratubular calcium oxalate cast", "intratubular calcium oxalate casts" ], "HP:0032960": [ "intratubular calcium phosphate cast", "intratubular calcium phosphate casts" ], "HP:0032961": [ "magnesium ammonium phosphate crystalluria", "struvite urinary crystal", "struvite urinary crystals" ], "HP:0032962": [ "tubular microcystic change" ], "HP:0032963": [ "complex renal cyst" ], "HP:0032964": [ "uric acid crystalluria" ], "HP:0032965": [ "interstitial emphysema" ], "HP:0032966": [ "centrilobular emphysema", "centriacinar emphysema" ], "HP:0032967": [ "panacinar emphysema" ], "HP:0032968": [ "expiratory air trap", "expiratory air trapping" ], "HP:0032969": [ "traction bronchiectasis" ], "HP:0032970": [ "traction bronchiolectasis" ], "HP:0032971": [ "compute tomographic halo sign", "computed tomographic halo sign", "ct halo sign" ], "HP:0032972": [ "nodular - centrilobular without tree - in - bud pattern on pulmonary hrct" ], "HP:0032973": [ "abnormal bronchoalveolar lavage fluid morphology" ], "HP:0032974": [ "abnormal cellular composition of bronchoalveolar fluid", "abnormal cell differential of broncho - alveolar fluid" ], "HP:0032975": [ "abnormal bronchoalveolar fluid protein level", "abnormal biochemical composition of broncho - alveolar fluid", "abnormal level of protein in the broncho - alveolar fluid", "abnormal level of proteins in the broncho - alveolar fluid" ], "HP:0032976": [ "elevate bronchoalveolar lavage fluid lymphocyte proportion", "elevated bronchoalveolar lavage fluid lymphocyte proportion" ], "HP:0032977": [ "elevate bronchoalveolar lavage fluid neutrophil proportion", "elevated bronchoalveolar lavage fluid neutrophil proportion", "elevate level of neutrophil in broncho - alveolar lavage fluid", "elevated level of neutrophils in broncho - alveolar lavage fluid" ], "HP:0032978": [ "lipid - laden macrophage in bronchoalveolar fluid", "lipid - laden macrophages in bronchoalveolar fluid" ], "HP:0032979": [ "hemosiderin - laden macrophage in bronchoalveolar fluid", "hemosiderin - laden macrophages in bronchoalveolar fluid", "accumulation of hemosiderin laden alveolar macrophage", "accumulation of hemosiderin laden alveolar macrophages", "siderophages in bronchoalveolar fluid" ], "HP:0032980": [ "absent bronchoalveolar surfactant - protein c" ], "HP:0032981": [ "absent bronchoalveolar dimeric surfactant - protein b" ], "HP:0032983": [ "atoll sign", "reverse halo sign", "reversed halo sign" ], "HP:0032984": [ "abnormal alveolar macrophage morphology" ], "HP:0032985": [ "dust particle inclusion in alveolar macrophage", "dust particle inclusion in alveolar macrophages" ], "HP:0032986": [ "smoker - inclusion in alveolar macrophage", "smoker - inclusions in alveolar macrophages" ], "HP:0032987": [ "elevate bronchoalveolar lavage fluid eosinophil proportion", "elevated bronchoalveolar lavage fluid eosinophil proportion" ], "HP:0032988": [ "persistent head lag", "head lag", "headlag" ], "HP:0032989": [ "delay ability to roll over", "delayed ability to roll over" ], "HP:0032990": [ "localize pulmonary hemorrhage", "localized pulmonary hemorrhage", "localise pulmonary haemorrhage", "localised pulmonary haemorrhage" ], "HP:0032991": [ "abnormal pulmonary fissure morphology" ], "HP:0032992": [ "abnormal pulmonary fissure architecture" ], "HP:0032993": [ "abnormal pulmonary fissure count" ], "HP:0032994": [ "supernumerary pulmonary fissure", "increase pulmonary fissure count", "increased pulmonary fissure count" ], "HP:0032995": [ "decrease pulmonary fissure count", "decreased pulmonary fissure count", "reduce pulmonary fissure count", "reduced pulmonary fissure count" ], "HP:0032996": [ "abnormal cystatin c level" ], "HP:0032997": [ "decrease cystatin c level", "decreased cystatin c level" ], "HP:0032998": [ "increase cystatin c level", "increased cystatin c level" ], "HP:0032999": [ "increased fecal porphyrin", "increased faecal porphyrin" ], "HP:0033000": [ "subglottic laryngitis", "croup", "laryngitis", "pseudocroup", "spasmodic croup", "viral croup" ], "HP:0033001": [ "laryngeal papilloma", "laryngeal papillomas", "laryngeal papillomatosis" ], "HP:0033002": [ "bronchial papilloma" ], "HP:0033003": [ "tracheal papilloma" ], "HP:0033004": [ "palmar wart", "palmar warts" ], "HP:0033005": [ "plantar wart", "plantar warts" ], "HP:0033006": [ "diffuse alveolar damage" ], "HP:0033007": [ "architectural distortion of the lung" ], "HP:0033008": [ "increase z - disc width", "increased z - disc width", "increase z - disk width", "increased z - disk width", "widen z - disc", "widened z - discs" ], "HP:0033009": [ "increased fecal coproporphyrin 1", "elevated faecal coproporphyrin 1", "elevated fecal coproporphyrin 1", "elevate stool coproporphyrin 1", "elevated stool coproporphyrin 1", "high faecal coproporphyrin 1", "high fecal coproporphyrin 1", "high stool coproporphyrin 1", "increased faecal coproporphyrin 1" ], "HP:0033010": [ "increased fecal coproporphyrin 3", "elevated faecal coproporphyrin 3", "elevated fecal coproporphyrin 3", "elevate stool coproporphyrin 3", "elevated stool coproporphyrin 3", "high faecal coproporphyrin 3", "high fecal coproporphyrin 3", "high stool coproporphyrin 3", "increased faecal coproporphyrin 3" ], "HP:0033011": [ "platystencephaly" ], "HP:0033012": [ "abnormal salivary metabolite concentration" ], "HP:0033013": [ "abnormal salivary cortisol level" ], "HP:0033014": [ "decrease salivary cortisol level", "decreased salivary cortisol level" ], "HP:0033015": [ "increase salivary cortisol level", "increased salivary cortisol level" ], "HP:0033016": [ "chronic decrease circulate igd", "chronic decreased circulating igd", "chronic decrease igm in blood", "chronic decreased igm in blood" ], "HP:0033017": [ "transient decrease circulate igd", "transient decreased circulating igd", "transient decreaseed igd in blood" ], "HP:0033018": [ "chronic absent circulate igd", "chronic absent circulating igd", "chronic ( near ) absent igm in blood" ], "HP:0033019": [ "male reproductive system neoplasm" ], "HP:0033020": [ "female reproductive system neoplasm" ], "HP:0033021": [ "transient decrease circulate ige", "transient decreased circulating ige", "transient decrease ige in blood", "transient decreased ige in blood" ], "HP:0033022": [ "chronic decrease circulate ige", "chronic decreased circulating ige", "chronic decrease ige in blood", "chronic decreased ige in blood" ], "HP:0033023": [ "chronic absent circulate ige", "chronic absent circulating ige", "chronic ( near ) absent ige in blood" ], "HP:0033024": [ "transient decrease circulate iga", "transient decreased circulating iga" ], "HP:0033025": [ "chronic absent circulate total igg", "chronic absent circulating total igg", "chronic ( near ) absent total igg in blood" ], "HP:0033026": [ "white oral mucosal macule" ], "HP:0033027": [ "retinal peau d'orange" ], "HP:0033028": [ "anti - ribonucleoprotein antibody positivity", "anti - rnp - antibody", "anti - rnp - antibodies", "anti - scl - 34 antibody positivity", "anti - u3 ribonucleoprotein antibody positivity" ], "HP:0033029": [ "anti - jo - 1 antibody positivity" ], "HP:0033030": [ "anti - glomerular basement membrane - antibody positivity", "anti - gbm - antibody positivity" ], "HP:0033031": [ "hyperpyrexia" ], "HP:0033032": [ "trigger by an abusive adult", "triggered by an abusive adult", "munchausen syndrome by proxy" ], "HP:0033033": [ "anti - mda5 antibody positivity", "increase level of anti - melanoma differentiation - associate protein 5 antibody", "increased level of anti - melanoma differentiation - associated protein 5 antibodies" ], "HP:0033034": [ "anti - citrullinated protein antibody positivity" ], "HP:0033035": [ "abnormal schwann cell morphology", "abnormal neurilemmal cell morphology", "abnormal neurilemmocyte morphology" ], "HP:0033036": [ "decrease nasal nitric oxide", "decreased nasal nitric oxide", "low nasal nitric oxide level" ], "HP:0033037": [ "migratory arthritis", "migratory polyarthritis" ], "HP:0033038": [ "anti - rna - polymerase - iii - autoantibody positivity" ], "HP:0033039": [ "increase circulate precipitin level", "increased circulating precipitin level", "increase level of antigen - precipitating igg antibody", "increased level of antigen - precipitating igg antibodies" ], "HP:0033040": [ "anti - sm - autoantibody positivity", "anti - smith autoantibody" ], "HP:0033041": [ "cytokine storm", "hypercytokinemia" ], "HP:0033042": [ "abnormal chorion morphology" ], "HP:0033043": [ "edematous chorionic villus", "edematous chorionic villi" ], "HP:0033044": [ "motor regression", "regression of motor skill", "regression of motor skills" ], "HP:0033045": [ "bipedal edema", "bipedal oedema" ], "HP:0033046": [ "michaelis - gutmann body", "michaelis - gutmann bodies", "malakoplakia" ], "HP:0033047": [ "body ache" ], "HP:0033048": [ "substantia nigra hypointensity on susceptibility - weight imaging", "substantia nigra hypointensity on susceptibility - weighted imaging", "low signal intensity in the substantia nigra on susceptibility - weighted imaging ( swi )" ], "HP:0033049": [ "globus pallidus hypointensity on susceptibility - weight imaging", "globus pallidus hypointensity on susceptibility - weighted imaging" ], "HP:0033050": [ "pharyngalgia", "pharyngodynia", "sore throat", "throat discomfort", "throat pain" ], "HP:0033051": [ "impaired executive functioning" ], "HP:0033052": [ "psychogenic non - epileptic seizure" ], "HP:0033053": [ "pseudoseizure" ], "HP:0033054": [ "myoclonic tremor" ], "HP:0033055": [ "impaired ability to plan", "ineffective planning" ], "HP:0033056": [ "impaired ability to organize", "impaired ability to organise" ], "HP:0033057": [ "decrease serum terminal complement component", "decreased serum terminal complement component" ], "HP:0033058": [ "decrease serum complement c7", "decreased serum complement c7" ], "HP:0033059": [ "decrease serum complement c6", "decreased serum complement c6" ], "HP:0033060": [ "decrease serum complement c5", "decreased serum complement c5" ], "HP:0033061": [ "increase factor ix activity", "increased factor ix activity" ], "HP:0033062": [ "abnormal factor ix activity" ], "HP:0033063": [ "shorten sleep cycle", "shortened sleep cycle", "short sleep" ], "HP:0033064": [ "renal interstitial globotriaosylceramide inclusion", "renal interstitial globotriaosylceramide inclusions" ], "HP:0033065": [ "mild albuminuria" ], "HP:0033066": [ "severe albuminuria", "heavy albuminuria" ], "HP:0033067": [ "cystine crystalluria" ], "HP:0033068": [ "medication crystalluria" ], "HP:0033069": [ "renal interstitial igg4+ plasma cell infiltration" ], "HP:0033070": [ "impaired self monitoring" ], "HP:0033071": [ "impaired task monitoring" ], "HP:0033072": [ "abnormal macroscopic urine appearance" ], "HP:0033073": [ "urate tophus", "urate tophi" ], "HP:0033074": [ "steroid - responsive anemia", "prednisone - responsive anaemia", "prednisone - responsive anemia", "steroid - responsive anaemia" ], "HP:0033075": [ "inappropriately normal thyroid - stimulate hormone level", "inappropriately normal thyroid - stimulating hormone level", "inappropriately normal tsh" ], "HP:0033076": [ "abnormal circulate free t4 level", "abnormal circulating free t4 level", "abnormal circulate free thyroxine level", "abnormal circulating free thyroxine level" ], "HP:0033077": [ "increase circulate free t4 level", "increased circulating free t4 level" ], "HP:0033078": [ "decrease circulate free t4 level", "decreased circulating free t4 level" ], "HP:0033079": [ "aplasia / hypoplasia of the thyroid gland" ], "HP:0033080": [ "abnormal tsh response to thyrotrophin - release hormone stimulation test", "abnormal tsh response to thyrotrophin - releasing hormone stimulation test", "abnormal tsh response to trh stimulation test" ], "HP:0033081": [ "absent tsh response to thyrotrophin - release hormone stimulation test", "absent tsh response to thyrotrophin - releasing hormone stimulation test" ], "HP:0033082": [ "reduce tsh response to thyrotrophin - release hormone stimulation test", "reduced tsh response to thyrotrophin - releasing hormone stimulation test" ], "HP:0033083": [ "increase circulate farnesol concentration", "increased circulating farnesol concentration" ], "HP:0033084": [ "abnormal antral follicle count" ], "HP:0033085": [ "reduce antral follicle count", "reduced antral follicle count" ], "HP:0033086": [ "increase antral follicle count", "increased antral follicle count" ], "HP:0033087": [ "quotidian fever" ], "HP:0033088": [ "valinuria", "increase valine in urine", "increased valine in urine" ], "HP:0033089": [ "branch - chain aminoaciduria", "branched - chain aminoaciduria" ], "HP:0033090": [ "increase aromatic amino acid level in urine", "increased aromatic amino acid level in urine" ], "HP:0033091": [ "tyrosinuria", "increase tyrosine in urine", "increased tyrosine in urine" ], "HP:0033092": [ "increase urine succinate level", "increased urine succinate level" ], "HP:0033093": [ "increase glutamine family amino acid level in urine", "increased glutamine family amino acid level in urine" ], "HP:0033094": [ "increase urine glutamate level", "increased urine glutamate level", "increase glutamic acid in urine", "increased glutamic acid in urine" ], "HP:0033095": [ "increase sulfur amino acid level in urine", "increased sulfur amino acid level in urine", "increase sulfur - contain amino acid level in urine", "increased sulfur - containing amino acid level in urine", "increase sulphur amino acid level in urine", "increased sulphur amino acid level in urine" ], "HP:0033096": [ "increase aspartate family amino acid level in urine", "increased aspartate family amino acid level in urine" ], "HP:0033097": [ "increase urine proteinogenic amino acid derivative level", "increased urine proteinogenic amino acid derivative level" ], "HP:0033098": [ "increase urinary non - proteinogenic amino acid level", "increased urinary non - proteinogenic amino acid level", "elevate urinary non - proteinogenic amino acid level", "elevated urinary non - proteinogenic amino acid level" ], "HP:0033099": [ "increase serine family amino acid in urine", "increased serine family amino acid in urine" ], "HP:0033100": [ "increase proteinogenic amino acid level in urine", "increased proteinogenic amino acid level in urine" ], "HP:0033101": [ "elevate urine aconitic acid level", "elevated urine aconitic acid level" ], "HP:0033102": [ "monkey wrench femoral neck", "monkey wrench appearance of femoral neck", "monkey wrench configuration of the proximal femur", "swedish key appearance of femoral neck", "swedish key configuration of the proximal femur" ], "HP:0033103": [ "elevate circulate chi3l1 level", "elevated circulating chi3l1 level", "elevate circulate chitinase 3 - like 1 level", "elevated circulating chitinase 3 - like 1 level", "elevate circulate ykl40 level", "elevated circulating ykl40 level" ], "HP:0033104": [ "inappropriate absence of fever" ], "HP:0033105": [ "interhypothalamic adhesion", "hypothalamic adhesion" ], "HP:0033106": [ "elevate circulate d - dimer concentration", "elevated circulating d - dimer concentration", "elevate d - dimer", "elevated d - dimers", "elevate fibrin degradation fragment concentration", "elevated fibrin degradation fragment concentration" ], "HP:0033107": [ "abnormal circulate proteinogenic amino acid concentration", "abnormal circulating proteinogenic amino acid concentration" ], "HP:0033108": [ "abnormal circulate proteinogenic amino acid derivative concentration", "abnormal circulating proteinogenic amino acid derivative concentration" ], "HP:0033109": [ "abnormal circulate non - proteinogenic amino acid concentration", "abnormal circulating non - proteinogenic amino acid concentration" ], "HP:0033110": [ "elevate circulate alpha - aminobutyric acid concentration", "elevated circulating alpha - aminobutyric acid concentration", "elevate circulate homoalanine concentration", "elevated circulating homoalanine concentration" ], "HP:0033111": [ "3 - hydroxyisovaleric aciduria", "increase urine 3 - hydroxyisovaleric acid level", "increased urine 3 - hydroxyisovaleric acid level" ], "HP:0033112": [ "elevate circulate apolipoprotein c - iii concentration", "elevated circulating apolipoprotein c - iii concentration", "elevate apoc3 level", "elevated apoc3 level", "elevate apolipoprotein c - iii level", "elevated apolipoprotein c - iii level" ], "HP:0033113": [ "gallop rhythm", "triple rhythm" ], "HP:0033114": [ "quadruple gallop rhythm" ], "HP:0033115": [ "elevate circulate tenascin - c level", "elevated circulating tenascin - c level" ], "HP:0033116": [ "duodenal gastric metaplasia" ], "HP:0033117": [ "duodenitis" ], "HP:0033118": [ "abnormal right ventricular function" ], "HP:0033119": [ "elevate right ventricular systolic pressure", "elevated right ventricular systolic pressure" ], "HP:0033120": [ "nummular eczema", "discoid eczema", "nummular dermatitis" ], "HP:0033121": [ "barking cough", "seal - like bark cough", "seal - like barking cough" ], "HP:0033122": [ "absent p wave", "absence of p wave on electrocardiography" ], "HP:0033123": [ "elevate circulate osteopontin level", "elevated circulating osteopontin level" ], "HP:0033124": [ "increase serum sorbitol concentration", "increased serum sorbitol concentration" ], "HP:0033125": [ "follicular lymphoma" ], "HP:0033126": [ "cutaneous necrosis", "skin necrosis" ], "HP:0033127": [ "abnormality of the musculoskeletal system" ], "HP:0033128": [ "delay ability to crawl", "delayed ability to crawl" ], "HP:0033129": [ "abnormal shoulder physiology" ], "HP:0033130": [ "abnormal renal echogenicity" ], "HP:0033131": [ "renal medullary hyperechogenicity", "increase renal medullary echogenicity", "increased renal medullary echogenicity" ], "HP:0033132": [ "renal cortical hyperechogenicity" ], "HP:0033133": [ "renal cortical hypoechogeneity", "hypoechogenic renal cortex" ], "HP:0033134": [ "abdominal adhesion", "abdominal adhesions", "intra - abdominal adhesion" ], "HP:0033135": [ "hepatic infarction" ], "HP:0033136": [ "lymph node abscess" ], "HP:0033137": [ "abnormal pulmonary alveolar system morphology" ], "HP:0033138": [ "right atrial thrombus" ], "HP:0033139": [ "elevate circulate uracil concentration", "elevated circulating uracil concentration" ], "HP:0033140": [ "blake 's pouch cyst" ], "HP:0033141": [ "severe sars - cov - 2 infection" ], "HP:0033142": [ "long nasal bridge" ], "HP:0033143": [ "jejunitis" ], "HP:0033144": [ "abnormal circulate ceruloplasmin concentration", "abnormal circulating ceruloplasmin concentration" ], "HP:0033145": [ "increase circulate ceruloplasmin concentration", "increased circulating ceruloplasmin concentration" ], "HP:0033146": [ "elevate circulate methylsuccinic acid concentration", "elevated circulating methylsuccinic acid concentration" ], "HP:0033147": [ "abnormal circulate short - chain fatty - acid concentration", "abnormal circulating short - chain fatty - acid concentration" ], "HP:0033148": [ "increase circulate isovaleric acid concentration", "increased circulating isovaleric acid concentration", "increase circulating isovalerate", "increased circulating isovalerate", "isovalericacidemia" ], "HP:0033149": [ "intrahepatic bile duct dilatation", "dilatation of intrahepatic biliary duct", "dilatation of intrahepatic biliary ducts" ], "HP:0033150": [ "anorectal abscess" ], "HP:0033151": [ "abnormal pharynx morphology" ], "HP:0033152": [ "abnormal pharynx physiology" ], "HP:0033153": [ "elevate circulate dodecenoylcarnitine concentration", "elevated circulating dodecenoylcarnitine concentration", "elevate plasma dodecenoylcarnitine concentration", "elevated plasma dodecenoylcarnitine concentration" ], "HP:0033154": [ "elevate circulate deoxypyridinoline concentration", "elevated circulating deoxypyridinoline concentration" ], "HP:0033155": [ "elevate circulate l - alloisoleucine concentration", "elevated circulating l - alloisoleucine concentration" ], "HP:0033156": [ "elevate urine l - alloisoleucine level", "elevated urine l - alloisoleucine level" ], "HP:0033157": [ "elevate circulate 3 - methylhistidine concentration", "elevated circulating 3 - methylhistidine concentration" ], "HP:0033158": [ "reduce respiratory ciliary beating frequency", "reduced respiratory ciliary beating frequency", "dminished respiratory ciliary beat frequency" ], "HP:0033159": [ "reduce urinary inosine level", "reduced urinary inosine level" ], "HP:0033160": [ "decrease urinary guanosine level", "decreased urinary guanosine level" ], "HP:0033161": [ "abnormal urinary purine level" ], "HP:0033162": [ "abnormal urinary pyrimidine level" ], "HP:0033163": [ "small intestinal bacterial overgrowth" ], "HP:0033164": [ "focal active colitis" ], "HP:0033165": [ "necrotizing enterocolitis" ], "HP:0033166": [ "recurrent viral upper respiratory tract infection", "recurrent viral upper respiratory tract infections" ], "HP:0033167": [ "neutrophilic urticarial dermatosis" ], "HP:0033168": [ "reduce mevalonate kinase activity", "reduced mevalonate kinase activity" ], "HP:0033169": [ "reduce total lung capacity", "reduced total lung capacity", "reduce tlc", "reduced tlc" ], "HP:0033170": [ "abnormal skinfold thickness measurement" ], "HP:0033171": [ "abnormal triceps skinfold thickness" ], "HP:0033172": [ "increase triceps skinfold thickness", "increased triceps skinfold thickness" ], "HP:0033173": [ "milky appearance of bronchoalveolar lavage fluid" ], "HP:0033174": [ "bloody bronchoalveolar lavage fluid" ], "HP:0033175": [ "elevate circulate 5 - oxoproline concentration", "elevated circulating 5 - oxoproline concentration", "elevate circulate l - pyroglutamic acid concentration", "elevated circulating l - pyroglutamic acid concentration" ], "HP:0033176": [ "submandibular lymph node enlargement", "submandibular lymphadenopathy" ], "HP:0033177": [ "elevate circulate suberic acid concentration", "elevated circulating suberic acid concentration" ], "HP:0033178": [ "increase circulate interleukin 8", "increased circulating interleukin 8", "increase serum il - 8", "increased serum il - 8", "increase serum interleukin 8", "increased serum interleukin 8", "increase serum interleukin - 8", "increased serum interleukin - 8" ], "HP:0033179": [ "elevate circulate aconitic acid concentration", "elevated circulating aconitic acid concentration" ], "HP:0033180": [ "torsion of appendix of testis", "twist vestigial remnant of the muellerian duct", "twisted vestigial remnant of the muellerian duct" ], "HP:0033181": [ "spinal epidural abscess", "a severe pyogenic infection of the epidural space" ], "HP:0033182": [ "increase circulate cathepsin d level", "increased circulating cathepsin d level" ], "HP:0033183": [ "bilobed right lung" ], "HP:0033184": [ "trigger by infection", "triggered by infection" ], "HP:0033185": [ "trigger by ebv infection", "triggered by ebv infection", "trigger by epstein barr virus infection", "triggered by epstein barr virus infection" ], "HP:0033186": [ "misalignment of the pulmonary vein", "misalignment of the pulmonary veins" ], "HP:0033187": [ "hyperimidodipeptiduria", "imidodipeptiduria" ], "HP:0033188": [ "cystic acne" ], "HP:0033189": [ "radiculomegaly", "long dental root", "rhizomegaly", "root gigantism" ], "HP:0033190": [ "hypertrichotic hyperpigmented patch", "cutaneous hyperpigmentation with overlie hypertrichosis", "cutaneous hyperpigmentation with overlying hypertrichosis" ], "HP:0033191": [ "increase circulate selenium concentration", "increased circulating selenium concentration" ], "HP:0033192": [ "decrease circulate selenium concentration", "decreased circulating selenium concentration" ], "HP:0033193": [ "ballooning hepatocyte degeneration", "balloon degeneration of hepatocytes", "ballooning degeneration of hepatocytes" ], "HP:0033194": [ "perioral erythema" ], "HP:0033195": [ "perianal erythema" ], "HP:0033196": [ "portal inflammation", "hepatic portal inflammation" ], "HP:0033197": [ "hepatic lobular inflammation" ], "HP:0033198": [ "trigger by viral infection", "triggered by viral infection" ], "HP:0033199": [ "increase circulate interleukin 10", "increased circulating interleukin 10", "increase serum interleukin 10", "increased serum interleukin 10" ], "HP:0033200": [ "triceps hyporeflexia", "hyporeflexia of triceps" ], "HP:0033201": [ "biceps hyporeflexia", "hyporeflexia of biceps" ], "HP:0033202": [ "brachioradialis hyporeflexia" ], "HP:0033203": [ "brachioradialis hyperreflexia" ], "HP:0033204": [ "triceps hyperreflexia" ], "HP:0033205": [ "biceps hyperreflexia" ], "HP:0033206": [ "hyperactive achilles reflex", "hyperactive ankle jerk reflex", "hyperactive ankle reflex" ], "HP:0033207": [ "increase proportion autoreactive unresponsive cd21 - / low b cell", "increased proportion autoreactive unresponsive cd21 - / low b cells" ], "HP:0033208": [ "alveolar capillary dysplasia" ], "HP:0033209": [ "acinar dysplasia" ], "HP:0033210": [ "congenital alveolar dysplasia" ], "HP:0033211": [ "decrease total iron binding capacity", "decreased total iron binding capacity" ], "HP:0033212": [ "abnormal total iron binding capacity" ], "HP:0033213": [ "elevate urine suberic acid level", "elevated urine suberic acid level", "elevate urine octanedioic acid level", "elevated urine octanedioic acid level" ], "HP:0033214": [ "recurrent viral pneumonia" ], "HP:0033215": [ "obliterative abnormality of the renal glomerulus" ], "HP:0033216": [ "glomerular hyalinosis" ], "HP:0033217": [ "perihilar glomerular hyalinosis" ], "HP:0033218": [ "glomerular hyalinosis at the tubular pole" ], "HP:0033219": [ "glomerular hyalinosis away from the vascular and tubular pole", "glomerular hyalinosis away from the vascular and tubular poles" ], "HP:0033220": [ "2 - ethylhydracylic aciduria", "elevate urinary 2 - ethylhydracylic acid", "elevated urinary 2 - ethylhydracylic acid", "elevate urinary 2 - methylbutyrylglycine", "elevated urinary 2 - methylbutyrylglycine" ], "HP:0033221": [ "increase cd4 : cd8 ratio", "increased cd4 : cd8 ratio" ], "HP:0033222": [ "decrease cd4 : cd8 ratio", "decreased cd4 : cd8 ratio", "invert cd4 / cd8 ratio", "inverted cd4 / cd8 ratio", "invert cd4 : cd8 ratio", "inverted cd4 : cd8 ratio" ], "HP:0033223": [ "abnormal glomerular parietal epithelial cell morphology" ], "HP:0033224": [ "glomerular parietal epithelial cell hyperplasia", "hyperplasia of the glomerular parietal epithelial cell" ], "HP:0033225": [ "glomerular parietal epithelial cell hypertrophy", "hypertrophy of the glomerular parietal epithelial cell" ], "HP:0033226": [ "bowman capsular hyaline drop", "bowman capsular hyaline drops", "capsular hyaline drop within bowman 's capsule", "capsular hyaline drops within bowman 's capsule" ], "HP:0033227": [ "glomerular synechial adhesion" ], "HP:0033228": [ "triceps areflexia", "areflexia of triceps" ], "HP:0033229": [ "brachioradialis areflexia", "areflexia of brachioradialis" ], "HP:0033230": [ "biceps areflexia", "areflexia of biceps" ], "HP:0033231": [ "abnormal glomerular mesangial cellularity" ], "HP:0033232": [ "abnormal glomerular mesangial matrix morphology" ], "HP:0033233": [ "paramesangial deposit", "paramesangial deposits" ], "HP:0033234": [ "mesangial hyaline deposition" ], "HP:0033235": [ "difficulty descend stair", "difficulty descending stairs", "difficulty walk down stair", "difficulty walking down stairs" ], "HP:0033236": [ "cognitive fatigue", "central fatigue" ], "HP:0033237": [ "visceral epithelial cell detachment", "detachment of visceral epithelial cell", "detachment of visceral epithelial cells", "podocyte detachment" ], "HP:0033238": [ "podocyte microvillous transformation" ], "HP:0033239": [ "visceral epithelial cell cap", "visceral epithelial cell capping", "podocyte cap" ], "HP:0033240": [ "elevate rv / tlc ratio", "elevated rv / tlc ratio", "hyperinflation on pulmonary function test", "overinflation on pulmonary function test" ], "HP:0033241": [ "polyalveolar lobe" ], "HP:0033242": [ "horseshoe lung" ], "HP:0033243": [ "pulmonary necrosis" ], "HP:0033244": [ "glycogen accumulation in pulmonary interstitial cell", "glycogen accumulation in pulmonary interstitial cells" ], "HP:0033245": [ "abnormal alveolar type ii pneumocyte morphology", "abnormal alveolar epithelial type ii cell morphology", "abnormal pulmonary type ii cell morphology", "abnormal type ii pneumocyte morphology" ], "HP:0033246": [ "type ii pneumocyte hypertrophy", "hypertrophic alveolar type ii cell", "hypertrophic alveolar type ii cells", "hypertrophic alveolar type ii pneumocytes" ], "HP:0033247": [ "pulmonary amyloidosis" ], "HP:0033248": [ "multiple pulmonary interstitial hyalinized nodule", "multiple pulmonary interstitial hyalinized nodules" ], "HP:0033249": [ "focal substantia nigra t2 hyperintensity", "focal substantia nigra t2 hyperintense lesion" ], "HP:0033250": [ "nailfold capillary tortuosity" ], "HP:0033251": [ "elevate residual volume", "elevated residual volume", "elevate rv", "elevated rv" ], "HP:0033252": [ "palmar hyperlinearity" ], "HP:0033253": [ "reduce circulate interferon gamma", "reduced circulating interferon gamma" ], "HP:0033254": [ "anorectal stricture", "stricture of the anorectum" ], "HP:0033255": [ "congenital lobar overinflation", "congenital lobar emphysema" ], "HP:0033256": [ "pancolitis" ], "HP:0033257": [ "delay ability to walk with support", "delayed ability to walk with support", "delay ability to cruise", "delayed ability to cruise" ], "HP:0033258": [ "sudden unexpected death in epilepsy" ], "HP:0033259": [ "non - motor seizure" ], "HP:0033260": [ "livedo racemosa" ], "HP:0033261": [ "renal artery aneurysm" ], "HP:0033262": [ "transphyseal fracture of the distal humerus", "transphyseal distal humerus fracture" ], "HP:0033263": [ "absent platelet dense granule", "absent platelet dense granules", "absent platelet dense body", "absent platelet dense bodies" ], "HP:0033264": [ "enlarge platelet dense granule", "enlarged platelet dense granules" ], "HP:0033265": [ "podocyte myelin figure", "podocyte myelin figures", "podocyte myelin inclusion", "podocyte myelin inclusions" ], "HP:0033266": [ "glomerular pseudocrescent" ], "HP:0033267": [ "abnormal glomerular capillary lumen morphology" ], "HP:0033268": [ "deflation of the glomerular tuft" ], "HP:0033269": [ "glomerular capillary collapse", "collapse of glomerular capillary wall", "collapse of glomerular capillary walls" ], "HP:0033270": [ "glomerular capillary congestion", "glomerular congestion" ], "HP:0033271": [ "glomerular capillary microaneurysm" ], "HP:0033272": [ "abnormal glomerular endothelial cell morphology" ], "HP:0033273": [ "loss of glomerular endothelial cell fenestration" ], "HP:0033274": [ "glomerular endotheliosis" ], "HP:0033275": [ "glomerular endothelial tubuloreticular inclusion" ], "HP:0033276": [ "obsolete glomerular endocapillary hypercellularity" ], "HP:0033277": [ "glomerular fibrinoid necrosis" ], "HP:0033278": [ "reduce cd95 - induced lymphocyte apoptosis", "reduced cd95 - induced lymphocyte apoptosis" ], "HP:0033279": [ "enterocutaneous fistula" ], "HP:0033280": [ "paratracheal lymphadenopathy" ], "HP:0033281": [ "circulate nucleate red blood cell", "circulating nucleated red blood cells" ], "HP:0033282": [ "abnormal glomerular basement membrane morphology" ], "HP:0033283": [ "segmentally thicken glomerular basement membrane", "segmentally thickened glomerular basement membrane" ], "HP:0033284": [ "diffusely thicken glomerular basement membrane", "diffusely thickened glomerular basement membrane" ], "HP:0033285": [ "thicken glomerular basement membrane with no electron dense deposit", "thickened glomerular basement membranes with no electron dense deposits" ], "HP:0033286": [ "thicken glomerular basement membrane with electron dense deposit", "thickened glomerular basement membranes with electron dense deposits" ], "HP:0033287": [ "glomerular basement membrane lucencies" ], "HP:0033288": [ "glomerular basement membrane spike", "glomerular basement membrane spikes" ], "HP:0033289": [ "glomerular basement membrane wrinkle", "glomerular basement membrane wrinkling" ], "HP:0033290": [ "glomerular subendothelial widening" ], "HP:0033291": [ "glomerular karyhorrhectic debris" ], "HP:0033292": [ "glomerular fibrin thrombus" ], "HP:0033293": [ "glomerular hyaline pseudothrombus" ], "HP:0033294": [ "glomerular lipoprotein thrombus" ], "HP:0033295": [ "mesangial immune complex deposition" ], "HP:0033296": [ "binucleated visceral epithelial cell", "binucleated visceral epithelial cells", "binucleated podocytes" ], "HP:0033297": [ "multinucleated visceral epithelial cell", "multinucleated visceral epithelial cells", "multinucleated podocytes", "podocyte multinucleation" ], "HP:0033298": [ "abnormal circulate complement factor h related protein 1 concentration", "abnormal circulating complement factor h related protein 1 concentration" ], "HP:0033299": [ "reduce circulate complement factor h related protein 1 concentration", "reduced circulating complement factor h related protein 1 concentration" ], "HP:0033300": [ "increase circulate complement factor h related protein 1 concentration", "increased circulating complement factor h related protein 1 concentration" ], "HP:0033301": [ "elevate circulate 1 - methylhistidine concentration", "elevated circulating 1 - methylhistidine concentration" ], "HP:0033302": [ "elevate circulate 4 - hydroxyphenylacetic acid concentration", "elevated circulating 4 - hydroxyphenylacetic acid concentration" ], "HP:0033303": [ "elevate urinary monocarboxylic acid level", "elevated urinary monocarboxylic acid level" ], "HP:0033304": [ "elevate urine 4 - hydroxyphenylacetic acid level", "elevated urine 4 - hydroxyphenylacetic acid level" ], "HP:0033305": [ "abnormal circulate fetuin a concentration", "abnormal circulating fetuin a concentration" ], "HP:0033306": [ "decrease circulate fetuin a concentration", "decreased circulating fetuin a concentration" ], "HP:0033307": [ "increase circulate fetuin a concentration", "increased circulating fetuin a concentration" ], "HP:0033308": [ "patellar overgrowth" ], "HP:0033309": [ "ileoileal intussusception" ], "HP:0033310": [ "osmotic diarrhea" ], "HP:0033311": [ "abdominal aortic dissection" ], "HP:0033312": [ "abnormal bowman space morphology" ], "HP:0033313": [ "urinary space collagenization", "collagenization of the urinary space" ], "HP:0033314": [ "visceral epithelial cell hyperplasia", "hyperplasia of visceral epithelial cell", "hyperplasia of visceral epithelial cells", "podocyte hyperplasia" ], "HP:0033315": [ "visceral epithelial hyaline droplet", "visceral epithelial hyaline droplets" ], "HP:0033316": [ "glomerular crescent formation" ], "HP:0033317": [ "cellular crescent" ], "HP:0033318": [ "fibrocellular crescent" ], "HP:0033319": [ "fibrous crescent" ], "HP:0033320": [ "mesangial cell loss" ], "HP:0033321": [ "glomerular obsolescence" ], "HP:0033322": [ "glomerular capillary wall duplication without cellular interposition" ], "HP:0033323": [ "glomerular capillary wall duplication with cellular interposition" ], "HP:0033324": [ "elevate circulate homovanillic acid concentration", "elevated circulating homovanillic acid concentration" ], "HP:0033325": [ "elevate circulate sebacic acid concentration", "elevated circulating sebacic acid concentration" ], "HP:0033326": [ "elevate circulate hydroxyphenlyllactic acid concentration", "elevated circulating hydroxyphenlyllactic acid concentration" ], "HP:0033327": [ "nail psoriasis" ], "HP:0033328": [ "type ii pneumocyte hyperplasia" ], "HP:0033329": [ "abnormal postural reflex", "abnormal postural reaction" ], "HP:0033330": [ "impaired neck - righting reflex" ], "HP:0033331": [ "acute phase response" ], "HP:0033332": [ "elevate circulate amyloid a", "elevated circulating amyloid a" ], "HP:0033333": [ "jaw contracture" ], "HP:0033334": [ "abnormal embryonic development" ], "HP:0033335": [ "abnormal preimplantation embryonic development" ], "HP:0033336": [ "zygotic cleavage failure", "failure of zygotic cell division" ], "HP:0033337": [ "abnormal gametogenesis" ], "HP:0033338": [ "abnormal female meiosis" ], "HP:0033339": [ "increase circulate inosine concentration", "increased circulating inosine concentration" ], "HP:0033340": [ "increase circulate guanosine concentration", "increased circulating guanosine concentration" ], "HP:0033341": [ "elevate circulate sitosterol concentration", "elevated circulating sitosterol concentration", "elevate circulate beta - sitosterol concentration", "elevated circulating beta - sitosterol concentration" ], "HP:0033342": [ "anti - aquaporin 4 antibody positivity", "anti - aqp4 antibody positivity" ], "HP:0033343": [ "mucoid diarrhea", "mucous diarrhea", "mucous diarrhoea" ], "HP:0033344": [ "pleural cobblestoning" ], "HP:0033345": [ "neuralgia" ], "HP:0033346": [ "psychic epileptic aura", "psychic aura" ], "HP:0033347": [ "cognitive epileptic aura" ], "HP:0033348": [ "epileptic aura" ], "HP:0033349": [ "seizure cluster", "acute repetitive seizure", "acute repetitive seizures", "crescendo seizure", "crescendo seizures", "cyclical seizure", "cyclical seizures", "recurrent seizure", "recurrent seizures", "seizure flurry", "seizure flurries", "serial seizure", "serial seizures" ], "HP:0033350": [ "elevate forced expiratory volume in one second", "elevated forced expiratory volume in one second", "elevate fev1", "elevated fev1" ], "HP:0033351": [ "candida esophagitis", "esophageal candidiasis" ], "HP:0033352": [ "pulmonary hypertensive crisis", "pulmonary arterial hypertension crisis" ], "HP:0033353": [ "abnormal blood vessel morphology" ], "HP:0033354": [ "abnormal urine metabolite level" ], "HP:0033355": [ "increase urine deoxypyridinoline level", "increased urine deoxypyridinoline level", "elevate urinary dpd", "elevated urinary dpd" ], "HP:0033356": [ "elevate circulate o - phosphoserine concentration", "elevated circulating o - phosphoserine concentration" ], "HP:0033357": [ "limited head rotation" ], "HP:0033358": [ "abnormal urine osmolality" ], "HP:0033359": [ "hyperosthenuria" ], "HP:0033360": [ "impaired ability to shift attention", "impaired task shift", "impaired task shifting" ], "HP:0033361": [ "nasal ulcer" ], "HP:0033362": [ "recurrent cough spasm", "recurrent coughing spasms" ], "HP:0033363": [ "hyaline membrane", "hyaline membranes" ], "HP:0033364": [ "lipoid pneumonia" ], "HP:0033365": [ "endogenous lipoid pneumonia" ], "HP:0033366": [ "exogenous lipoid pneumonia" ], "HP:0033367": [ "orthodeoxia" ], "HP:0033368": [ "platypnea" ], "HP:0033369": [ "cavitating leukodystrophy" ], "HP:0033370": [ "bronchial telangiectasia", "endobronchial telangiectasia" ], "HP:0033371": [ "bronchocentric granulomatosis" ], "HP:0033372": [ "abnormal kco" ], "HP:0033373": [ "increase kco", "increased kco" ], "HP:0033374": [ "decrease kco", "decreased kco" ], "HP:0033375": [ "anthracosis" ], "HP:0033376": [ "alveolar septal thickening" ], "HP:0033377": [ "increase airway neuroendocrine cell", "increased airway neuroendocrine cells" ], "HP:0033378": [ "increase airway neuroepithelial body", "increased airway neuroepithelial bodies" ], "HP:0033379": [ "bilateral superior vena cava", "bilateral svc" ], "HP:0033380": [ "nasal chondritis", "nose chondritis" ], "HP:0033381": [ "elevate circulate stearoylcarnitine concentration", "elevated circulating stearoylcarnitine concentration" ], "HP:0033382": [ "elevate circulate palmitoylcarnitine concentration", "elevated circulating palmitoylcarnitine concentration" ], "HP:0033383": [ "decrease compound muscle action potential amplitude", "decreased compound muscle action potential amplitude", "decrease cmap amplitude", "decreased cmap amplitude" ], "HP:0033384": [ "elevate urinary collagen degradation product", "elevated urinary collagen degradation products" ], "HP:0033385": [ "elevate urine pyridinoline level", "elevated urine pyridinoline level", "elevate urine hydroxylysyl - pyridinoline level", "elevated urine hydroxylysyl - pyridinoline level" ], "HP:0033386": [ "abnormal circulate collagen degradation product concentration", "abnormal circulating collagen degradation product concentration" ], "HP:0033387": [ "elevate circulate pyridinoline concentration", "elevated circulating pyridinoline concentration" ], "HP:0033388": [ "abnormal bronchial artery morphology" ], "HP:0033389": [ "bronchopulmonary anastomosis" ], "HP:0033390": [ "bronchial artery dilatation", "bronchial artery enlargement", "dilatation of a bronchial artery" ], "HP:0033391": [ "bronchial artery hypertrophy" ], "HP:0033392": [ "perivascular pre - capillary pulmonary artery inflammation", "perivascular inflammation of arteriole in the pulmonary circulation", "perivascular inflammation of arterioles in the pulmonary circulation", "perivascular inflammation of pre - capillary pulmonary artery", "perivascular inflammation of pre - capillary pulmonary arteries" ], "HP:0033393": [ "irregularly shaped sperm tail", "sperm flagellum with irregular caliber", "sperm flagella with irregular caliber", "sperm flagellum with irregular calibre", "sperm flagella with irregular calibre" ], "HP:0033394": [ "anti - carbonic anhydrase ii antibody positivity" ], "HP:0033395": [ "antilactoferrin antibody positivity" ], "HP:0033396": [ "glomerular extracapillary fibrin" ], "HP:0033397": [ "bowman - space proteinaceous debris" ], "HP:0033398": [ "pleural plaque" ], "HP:0033399": [ "persistent fever" ], "HP:0033400": [ "acute abdomen", "acute abdominal pain" ], "HP:0033401": [ "tissue ischemia" ], "HP:0033402": [ "digital ischemia" ], "HP:0033403": [ "testicular ischemia" ], "HP:0033404": [ "intestinal ischemia" ], "HP:0033405": [ "abnormal circulate organic amino compound concentration", "abnormal circulating organic amino compound concentration" ], "HP:0033406": [ "elevate circulate o - phosphoethanolamine concentration", "elevated circulating o - phosphoethanolamine concentration" ], "HP:0033407": [ "elevate urine acetoacetic acid level", "elevated urine acetoacetic acid level" ], "HP:0033408": [ "elevate circulate acetoacetic acid concentration", "elevated circulating acetoacetic acid concentration" ], "HP:0033409": [ "elevate urinary 2 - hydroxybutyric acid", "elevated urinary 2 - hydroxybutyric acid" ], "HP:0033410": [ "elevate circulating cartilage oligomeric matrix protein concentration", "elevated circulating cartilage oligomeric matrix protein concentration" ], "HP:0033411": [ "low extremity akinesia", "lower extremity akinesia" ], "HP:0033412": [ "upper extremity akinesia", "akinesia of the upper extremity", "akinesia of the upper extremities" ], "HP:0033413": [ "upper extremity hypokinesia", "hypokinesia of the upper extremity", "hypokinesia of the upper extremities" ], "HP:0033414": [ "low extremity hypokinesia", "lower extremity hypokinesia", "hypokinesia of the low extremity", "hypokinesia of the lower extremities" ], "HP:0033415": [ "cardiac tamponade" ], "HP:0033416": [ "hip adductor weakness" ], "HP:0033417": [ "elevate circulate hydroxybutyric acid concentration", "elevated circulating hydroxybutyric acid concentration" ], "HP:0033418": [ "elevate circulate 2 - hydroxybutyric acid concentration", "elevated circulating 2 - hydroxybutyric acid concentration" ], "HP:0033419": [ "elevate circulate 3 - hydroxybutyric acid concentration", "elevated circulating 3 - hydroxybutyric acid concentration" ], "HP:0033420": [ "pulmonary arterial plexiform lesion" ], "HP:0033421": [ "pulmonary artery intimal thicken", "pulmonary artery intimal thickening" ], "HP:0033422": [ "pulmonary artery adventitial fibrosis" ], "HP:0033423": [ "pulmonary arterial hypertension with positive acute response to no challenge" ], "HP:0033424": [ "pulmonary arterial hypertension with lack of acute response to no challenge" ], "HP:0033425": [ "periungual erythema" ], "HP:0033426": [ "pulmonary air embolism", "venous air embolism" ], "HP:0033427": [ "pulmonary capillary angioectasia" ], "HP:0033428": [ "systemic autoinflammation" ], "HP:0033429": [ "neuroinflammation" ], "HP:0033430": [ "non - infectious meningitis" ], "HP:0033431": [ "cytomegalovirus colitis", "cmv colitis" ], "HP:0033432": [ "opportunistic viral infection" ], "HP:0033433": [ "ileocecal ulcer", "ileo - cecal ulcer" ], "HP:0033434": [ "nasal septum perforation", "nasal - septum perforation", "perforation of the nasal septum" ], "HP:0033435": [ "abnormal circulate keto acid concentration", "abnormal circulating keto acid concentration" ], "HP:0033436": [ "elevate circulate 3 - methyl - 2 - oxovaleric acid concentration", "elevated circulating 3 - methyl - 2 - oxovaleric acid concentration" ], "HP:0033437": [ "elevate circulate 4 - methyl - 2 - oxopentanoic acid concentration", "elevated circulating 4 - methyl - 2 - oxopentanoic acid concentration", "increase circulate alpha - ketoisocaproic acid concentration", "increased circulating alpha - ketoisocaproic acid concentration" ], "HP:0033438": [ "elevate circulate myoglobin concentration", "elevated circulating myoglobin concentration" ], "HP:0033439": [ "elevate circulate decenoylcarnitine concentration", "elevated circulating decenoylcarnitine concentration", "elevate circulate o - decenoylcarnitine concentration", "elevated circulating o - decenoylcarnitine concentration", "elevate plasma decenoylcarnitine , c10:1", "elevated plasma decenoylcarnitine , c10:1" ], "HP:0033440": [ "elevate circulate octenoylcarnitine concentration", "elevated circulating octenoylcarnitine concentration", "elevate circulate o - octenoylcarnitine concentration", "elevated circulating o - octenoylcarnitine concentration", "elevate plasma octenoylcarnitine , c8:1", "elevated plasma octenoylcarnitine , c8:1" ], "HP:0033441": [ "elevate circulate hexanoylcarnitine concentration", "elevated circulating hexanoylcarnitine concentration", "elevate circulate o - hexanoylcarnitine concentration", "elevated circulating o - hexanoylcarnitine concentration", "elevate plasma hexanoylcarnitine , c6:0", "elevated plasma hexanoylcarnitine , c6:0" ], "HP:0033442": [ "elevate circulate glutarylcarnitine concentration", "elevated circulating glutarylcarnitine concentration", "elevate circulate o - glutarylcarnitine concentration", "elevated circulating o - glutarylcarnitine concentration", "elevate plasma glutarylcarnitine , c5 - dc", "elevated plasma glutarylcarnitine , c5 - dc" ], "HP:0033443": [ "elevate circulate propionylcarnitine concentration", "elevated circulating propionylcarnitine concentration" ], "HP:0033444": [ "elevate circulate dodecanoylcarnitine concentration", "elevated circulating dodecanoylcarnitine concentration", "elevate circulate o - dodecanoylcarnitine concentration", "elevated circulating o - dodecanoylcarnitine concentration", "elevate plasma dodecanoylcarnitine , c12:0", "elevated plasma dodecanoylcarnitine , c12:0" ], "HP:0033445": [ "reduce circulate acylcarnitine concentration", "reduced circulating acylcarnitine concentration" ], "HP:0033446": [ "elevate circulate butyrylcarnitine concentration", "elevated circulating butyrylcarnitine concentration", "elevate circulate o - butyrylcarnitine concentration", "elevated circulating o - butyrylcarnitine concentration" ], "HP:0033447": [ "elevate circulate isovalerylcarnitine concentration", "elevated circulating isovalerylcarnitine concentration", "elevate circulate o - isovalerylcarnitine concentration", "elevated circulating o - isovalerylcarnitine concentration" ], "HP:0033448": [ "increase mid - arm muscle circumference", "increased mid - arm muscle circumference" ], "HP:0033449": [ "decrease mid - arm muscle circumference", "decreased mid - arm muscle circumference" ], "HP:0033450": [ "abnormal circulate prealbumin concentration", "abnormal circulating prealbumin concentration" ], "HP:0033451": [ "increase circulate prealbumin concentration", "increased circulating prealbumin concentration" ], "HP:0033452": [ "decrease circulate prealbumin concentration", "decreased circulating prealbumin concentration" ], "HP:0033453": [ "limited neck extension" ], "HP:0033454": [ "tube feeding" ], "HP:0033455": [ "elevate urinary dicarboxylic acid level", "elevated urinary dicarboxylic acid level" ], "HP:0033456": [ "elevate urine keto acid level", "elevated urine keto acid level" ], "HP:0033457": [ "elevate urine 3 - methyl - 2 - oxovaleric acid level", "elevated urine 3 - methyl - 2 - oxovaleric acid level" ], "HP:0033458": [ "elevate urine 4 - methyl - 2 - oxopentanoic acid level", "elevated urine 4 - methyl - 2 - oxopentanoic acid level", "increase urine alpha - ketoisocaproic acid level", "increased urine alpha - ketoisocaproic acid level" ], "HP:0033459": [ "decrease circulate apolipoprotein concentration", "decreased circulating apolipoprotein concentration", "decrease apolipoprotein level", "decreased apolipoprotein level" ], "HP:0033460": [ "increase circulate apolipoprotein circulation", "increased circulating apolipoprotein circulation" ], "HP:0033461": [ "elevate circulate 3 - hydroxylinoleylcarnitine concentration", "elevated circulating 3 - hydroxylinoleylcarnitine concentration", "elevate plasma 3 - oh - linoleylcarnitine , c18:1 - oh", "elevated plasma 3 - oh - linoleylcarnitine , c18:1 - oh" ], "HP:0033462": [ "elevate circulate oleylcarnitine concentration", "elevated circulating oleylcarnitine concentration", "elevate plasma oleylcarnitine , c18:1", "elevated plasma oleylcarnitine , c18:1" ], "HP:0033464": [ "elevate circulate 3 - hydroxypalmitoleylcarnitine concentration", "elevated circulating 3 - hydroxypalmitoleylcarnitine concentration", "elevate circulate 3 - oh - palmitoleylcarnitine concentration", "elevated circulating 3 - oh - palmitoleylcarnitine concentration", "elevate plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh", "elevated plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh" ], "HP:0033465": [ "elevate circulate tetradecanolycarnitine concentration", "elevated circulating tetradecanolycarnitine concentration" ], "HP:0033466": [ "weak grip" ], "HP:0033467": [ "low 10 - minute apgar score" ], "HP:0033468": [ "10 - minute apgar score of 0" ], "HP:0033469": [ "10 - minute apgar score of 1" ], "HP:0033470": [ "10 - minute apgar score of 2" ], "HP:0033471": [ "10 - minute apgar score of 3" ], "HP:0033472": [ "10 - minute apgar score of 4" ], "HP:0033473": [ "10 - minute apgar score of 5" ], "HP:0033474": [ "10 - minute apgar score of 6" ], "HP:0033475": [ "limited shoulder abduction" ], "HP:0033476": [ "extractable nuclear antigen positivity" ], "HP:0033477": [ "abnormal circulate lipoprotein lipase concentration", "abnormal circulating lipoprotein lipase concentration" ], "HP:0033478": [ "increase circulate lipoprotein lipase concentration", "increased circulating lipoprotein lipase concentration", "elevate lipoprotein lipase level", "elevated lipoprotein lipase level" ], "HP:0033479": [ "abnormal circulate bilirubin concentration", "abnormal circulating bilirubin concentration" ], "HP:0033480": [ "hypobilirubinemia" ], "HP:0033481": [ "limited lateral neck flexion" ], "HP:0033482": [ "limited shoulder flexion" ], "HP:0033483": [ "podocyte infolding" ], "HP:0033484": [ "elevate circulate linoleylcarnitine concentration", "elevated circulating linoleylcarnitine concentration", "elevate plasma linoleylcarnitine , c18:2", "elevated plasma linoleylcarnitine , c18:2" ], "HP:0033485": [ "glomerular basement membrane disruption", "disruption of the glomerular basement membrane", "glomerular basement membrane rupture" ], "HP:0033486": [ "abnormal glomerular basement membrane texture" ], "HP:0033487": [ "glomerular basement membrane powdery deposit", "glomerular basement membranes powdery deposit", "glomerular basement membrane with powdery deposit", "glomerular basement membranes with powdery deposit" ], "HP:0033488": [ "glomerular endocapillary leukocyte hypercellularity", "glomerular endocapillary hypercellularity consist of leukocyte", "glomerular endocapillary hypercellularity consisting of leukocytes" ], "HP:0033489": [ "glomerular endocapillary neutrophil hypercellularity" ], "HP:0033490": [ "glomerular endocapillary foam - cell hypercellularity" ], "HP:0033491": [ "global mesangial sclerosis" ], "HP:0033492": [ "podocyte cytoskeletal condensation" ], "HP:0033493": [ "mesangial matrix expansion", "increase glomerular mesangial matrix", "increased glomerular mesangial matrix" ], "HP:0033494": [ "glomerular basement membrane amyloid spicule" ], "HP:0033495": [ "segmental glomerulosclerosis" ], "HP:0033496": [ "perihilar segmental glomerulosclerosis", "segmental glomerulosclerosis , perihilar pattern" ], "HP:0033497": [ "tip variant segmental glomerulosclerosis", "segmental glomerulosclerosis , tip variant" ], "HP:0033498": [ "segmental glomerulosclerosis away from the vascular and tubular pole", "segmental glomerulosclerosis away from the vascular and tubular poles" ], "HP:0033499": [ "glomerular basement membrane electron dense deposit", "glomerular basement membrane electron dense deposits" ], "HP:0033500": [ "subendothelial glomerular basement membrane electron dense deposit", "subendothelial glomerular basement membrane electron dense deposits" ], "HP:0033501": [ "subepithelial glomerular basement membrane electron dense deposit", "subepithelial glomerular basement membrane electron dense deposits" ], "HP:0033502": [ "abnormal esterify to free carnitine ratio", "abnormal esterified to free carnitine ratio" ], "HP:0033503": [ "elevate csf fumarate", "elevated csf fumarate" ], "HP:0033504": [ "elevate circulate fumarate concentration", "elevated circulating fumarate concentration" ], "HP:0033505": [ "livedo reticularis" ], "HP:0033506": [ "increase esterify to free carnitine ratio", "increased esterified to free carnitine ratio" ], "HP:0033507": [ "decrease esterify to free carnitine ratio", "decreased esterified to free carnitine ratio" ], "HP:0033508": [ "ebv meningitis", "epstein - barr virus meningitis" ], "HP:0033509": [ "ebv encephalitis", "epstein - barr virus encephalitis" ], "HP:0033510": [ "cutaneous horn", "cornu cutaneum" ], "HP:0033511": [ "drug addiction" ], "HP:0033512": [ "stimulant addiction", "stimulant dependence" ], "HP:0033513": [ "cocaine addiction", "cocaine dependence" ], "HP:0033514": [ "amphetamine addiction", "amphetamine dependence", "dextroamphetamine addiction", "dextroamphetamine dependence" ], "HP:0033515": [ "opioid addiction", "opioid dependence" ], "HP:0033516": [ "benzodiazepine addiction", "benzodiazepine dependence" ], "HP:0033517": [ "heroin addiction", "heroin dependence" ], "HP:0033518": [ "methylphenidate addiction", "methylphenidate dependence" ], "HP:0033519": [ "methamphetamine addiction", "methamphetamine dependence" ], "HP:0033520": [ "paradoxical embolism" ], "HP:0033521": [ "nasal dryness" ], "HP:0033522": [ "cerebral cavernous malformation" ], "HP:0033523": [ "abnormal sperm principal piece morphology" ], "HP:0033524": [ "abnormal sperm axoneme morphology" ], "HP:0033525": [ "absent sperm axoneme central pair complex", "absent central pair complex ( 9+0 pattern )" ], "HP:0033526": [ "limited ankle dorsiflexion" ], "HP:0033527": [ "decrease gonadotropin - stimulate testosterone - to - androstenedione ratio", "decreased gonadotropin - stimulated testosterone - to - androstenedione ratio", "decrease plasma testosterone - to - androstenedione ratio", "decreased plasma testosterone - to - androstenedione ratio" ], "HP:0033528": [ "abnormal cardiac output" ], "HP:0033529": [ "abnormal cardiac index" ], "HP:0033530": [ "increase cardiac index", "increased cardiac index" ], "HP:0033531": [ "decrease cardiac index", "decreased cardiac index" ], "HP:0033532": [ "decrease cardiac output", "decreased cardiac output" ], "HP:0033533": [ "increase cardiac output", "increased cardiac output" ], "HP:0033534": [ "increase circulate brain natriuretic peptide concentration", "increased circulating brain natriuretic peptide concentration", "elevate circulate bnp concentration", "elevated circulating bnp concentration", "increase b - type natriuretic peptide", "increased b - type natriuretic peptide", "increase ventricular natriuretic peptide", "increased ventricular natriuretic peptide" ], "HP:0033535": [ "reduce platelet dense granule", "reduced platelet dense granules" ], "HP:0033536": [ "reduce platelet alpha granule", "reduced platelet alpha granules" ], "HP:0033537": [ "mosaic pulmonary attenuation pattern" ], "HP:0033538": [ "aortic annulus calcification", "aortic annular calcification" ], "HP:0033539": [ "bilateral apical pulmonary fibrosis" ], "HP:0033540": [ "reversible airflow obstruction", "reversible pulmonary obstruction" ], "HP:0033541": [ "irreversible airflow obstruction", "irreversible pulmonary obstruction" ], "HP:0033542": [ "bronchial wall thickening", "peribronchial cuffing", "peribronchial thickening" ], "HP:0033543": [ "nicotine addiction", "nicotine dependence" ], "HP:0033544": [ "mesangial fibril deposition" ], "HP:0033545": [ "mesangial fibrillary deposit", "mesangial fibrillary deposits" ], "HP:0033546": [ "mesangial microfibril deposition" ], "HP:0033547": [ "mesangial immunotactoid deposit", "mesangial immunotactoid deposits" ], "HP:0033548": [ "mesangial amyloid deposition" ], "HP:0033549": [ "nodular mesangiosclerosis" ], "HP:0033550": [ "necrotizing pulmonary granulomatosis", "caseate pulmonary granulomatosis", "caseating pulmonary granulomatosis" ], "HP:0033551": [ "non - necrotizing pulmonary granulomatosis", "non - caseate pulmonary granulomatosis", "non - caseating pulmonary granulomatosis" ], "HP:0033552": [ "chronic villitis", "chronic villitis ( non - infectious )", "nonspecific chronic villitis", "villitis of unknown aetiology", "villitis of unknown etiology" ], "HP:0033553": [ "septic embolism", "septic embolus", "septic emboli" ], "HP:0033554": [ "anti - mi2 antibody positivity" ], "HP:0033555": [ "anti - ro / s - a antibody positivity", "anti - ro / ss - a antibody positivity" ], "HP:0033556": [ "anti - nucleoporin 62 antibody positivity", "anti - p62 antibody positivity" ], "HP:0033557": [ "anti - proteinase 3 antibody positivity", "anti - pr3 antibody positivity" ], "HP:0033558": [ "anti - histone antibody positivity" ], "HP:0033559": [ "anti - myeloperoxidase antibody positivity", "anti - mpo antibody positivity" ], "HP:0033560": [ "anti - pm - scl antibody positivity" ], "HP:0033561": [ "anti - bactericidal / permeability - increase protein antibody positivity", "anti - bactericidal / permeability - increasing protein antibody positivity", "anti - bpi antibody positivity" ], "HP:0033562": [ "anti - glycoprotein - 210 antibody positivity", "anti - gp210 antibody positivity" ], "HP:0033563": [ "anti - tissue transglutaminase antibody positivity", "anti - ttg antibody positivity" ], "HP:0033564": [ "stasis dermatitis", "varicose eczema", "venous eczema" ], "HP:0033565": [ "anti - epidermal transglutaminase antibody positivity", "anti - epidermal transglutaminase ( anti - etg ) antibody", "anti - etg antibody positivity", "anti - keratinocyte transglutaminase", "anti - tg3 antibody" ], "HP:0033566": [ "abnormal ventricular axis", "abnormal qrs axis" ], "HP:0033567": [ "right axis deviation", "electrical right axis deviation" ], "HP:0033568": [ "leave axis deviation", "left axis deviation", "electrical leave axis deviation", "electrical left axis deviation" ], "HP:0033569": [ "extreme axis deviation" ], "HP:0033570": [ "indeterminate ventricular axis" ], "HP:0033571": [ "peripheral lung neovascularity" ], "HP:0033572": [ "anti - h1 antibody positivity" ], "HP:0033573": [ "anti - h4 antibody positivity" ], "HP:0033574": [ "anti - h3 antibody positivity" ], "HP:0033575": [ "anti - h2a antibody positivity" ], "HP:0033576": [ "anti - h2b antibody positivity" ], "HP:0033577": [ "in situ pulmonary artery thrombosis" ], "HP:0033578": [ "pre - capillary pulmonary hypertension", "precapillary pulmonary hypertension" ], "HP:0033579": [ "decreased growth hormone responses to growth hormone - release hormone challenge", "decreased growth hormone responses to growth hormone - releasing hormone challenge", "impaired growth hormone secretory response after growth hormone - release hormone challenge", "impaired growth hormone secretory responses after growth hormone - releasing hormone challenge" ], "HP:0033580": [ "compound motor action potential abnormality" ], "HP:0033581": [ "absent peripheral lymph node in presence of infection", "absent peripheral lymph nodes in presence of infection" ], "HP:0033582": [ "pulmonary interstitial lymphocyte infiltration" ], "HP:0033583": [ "follicular bronchiolitis" ], "HP:0033584": [ "nonspecific interstitial pneumonia", "nonspecific interstitial pneumonitis", "temporally uniform pulmonary inflammation" ], "HP:0033585": [ "fibrotic non - specific interstitial pneumonia" ], "HP:0033586": [ "cellular non - specific interstitial pneumonia" ], "HP:0033587": [ "vulvar abscess" ], "HP:0033588": [ "labial adhesion", "labial agglutination", "synechia vulva", "synechia vulvae" ], "HP:0033589": [ "flatulence" ], "HP:0033590": [ "inguinal abscess", "groin abscess" ], "HP:0033591": [ "staghorn calculus", "staghorn renal stone" ], "HP:0033592": [ "anti - h3 - h4 antibody positivity" ], "HP:0033593": [ "anti - h2a - h2b antibody positivity" ], "HP:0033594": [ "elevate urinary 7 - biopterin level", "elevated urinary 7 - biopterin level", "primapterinuria" ], "HP:0033595": [ "elevate circulate globotriaosylceramide concentration", "elevated circulating globotriaosylceramide concentration", "elevate circulate ceramidetrihexoside concentration", "elevated circulating ceramidetrihexoside concentration" ], "HP:0033596": [ "elevate urinary 3 - methylcrotonylglycine level", "elevated urinary 3 - methylcrotonylglycine level" ], "HP:0033597": [ "decrease mucosal sucrase - isomaltase activity", "decreased mucosal sucrase - isomaltase activity" ], "HP:0033598": [ "fibrillar glomerular subepithelial deposit", "fibrillar glomerular subepithelial deposits" ], "HP:0033599": [ "glomerular amyloid subepithelial deposit", "glomerular amyloid subepithelial deposits" ], "HP:0033600": [ "fibrillary glomerular subepithelial deposit", "fibrillary glomerular subepithelial deposits" ], "HP:0033601": [ "glomerular subepithelial immune - complex deposit", "glomerular subepithelial immune - complex deposits" ], "HP:0033602": [ "glomerular hyaline subepithelial deposit", "glomerular hyaline subepithelial deposits" ], "HP:0033603": [ "glomerular subepithelial deposit", "glomerular subepithelial deposits" ], "HP:0033604": [ "glomerular capillary wire loop deposit", "glomerular capillary wire loop deposits" ], "HP:0033605": [ "pustular rash", "pustulosis" ], "HP:0033606": [ "bone marrow maturation arrest", "haematopoietic maturation arrest", "hematopoietic maturation arrest" ], "HP:0033607": [ "bone marrow arrest at the promyelocytic stage" ], "HP:0033608": [ "pulmonary nodule", "spot on the lung" ], "HP:0033609": [ "solid pulmonary nodule" ], "HP:0033610": [ "subsolid pulmonary nodule" ], "HP:0033611": [ "part - solid pulmonary nodule" ], "HP:0033612": [ "pure ground - glass pulmonary nodule" ], "HP:0033613": [ "perifissural pulmonary nodule" ], "HP:0033614": [ "tracheal bronchus" ], "HP:0033615": [ "displace tracheal bronchus", "displaced tracheal bronchus" ], "HP:0033616": [ "accessory cardiac bronchus" ], "HP:0033617": [ "supernumerary tracheal bronchus" ], "HP:0033618": [ "displace lobar tracheal bronchus", "displaced lobar tracheal bronchus", "bronchus suis", "pig bronchus" ], "HP:0033619": [ "typical perifissural nodule" ], "HP:0033620": [ "atypical perifissural nodule" ], "HP:0033621": [ "bronchial diverticulum", "bronchial diverticula" ], "HP:0033622": [ "migratory erythematous plaque" ], "HP:0033623": [ "birth history" ], "HP:0033624": [ "history of congenital cmv infection", "history of congenital cytomegalovirus infection" ], "HP:0033625": [ "emotional insecurity" ], "HP:0033626": [ "increase non - hdl cholesterol concentration", "increased non - hdl cholesterol concentration", "elevate non - hdl cholesterol concentration", "elevated non - hdl cholesterol concentration" ], "HP:0033627": [ "increase urine harderoporphyrin level", "increased urine harderoporphyrin level" ], "HP:0033628": [ "bowel irritability" ], "HP:0033629": [ "igg4 autoimmune antibody positivity" ], "HP:0033630": [ "brain fog", "mental clouding", "mental fatigue", "mental fog" ], "HP:0033631": [ "spondylitis" ], "HP:0033632": [ "abnormal alveolar volume" ], "HP:0033633": [ "decreased alveolar volume" ], "HP:0033634": [ "increase alveolar volume", "increased alveolar volume" ], "HP:0033635": [ "post - capillary pulmonary hypertension", "postcapillary pulmonary hypertension" ], "HP:0033636": [ "combine pre - and post - capillary pulmonary hypertension", "combined pre - and post - capillary pulmonary hypertension" ], "HP:0033637": [ "anti - endomysial antibody positivity", "anti - transglutaminase 2 antibody positivity" ], "HP:0033638": [ "intralobular septal thickening", "intralobular line", "intralobular lines" ], "HP:0033639": [ "septic pulmonary embolism", "septic pulmonary embolus", "septic pulmonary emboli" ], "HP:0033640": [ "acetabular erosion", "acetabular erosions" ], "HP:0033641": [ "aortic valve leaflet calcification", "aortic cusp calcification", "aortic valve cusp calcification" ], "HP:0033642": [ "mitral valve leaflet calcification" ], "HP:0033643": [ "increase circulate very long - chain fatty acid concentration", "increased circulating very long - chain fatty acid concentration", "increase plasma level of very long - chain fatty acid", "increased plasma levels of very long - chain fatty acid" ], "HP:0033644": [ "elevate circulate erythropoietin concentration", "elevated circulating erythropoietin concentration", "elevate circulating erythropoietin", "elevated circulating erythropoietin" ], "HP:0033645": [ "midline brainstem cleft" ], "HP:0033646": [ "absent hippocampal commissure", "agenesis of the hippocampal commissure" ], "HP:0033647": [ "silhouette sign" ], "HP:0033648": [ "pulmonary pseudocavity" ], "HP:0033649": [ "paraseptal emphysema", "distal acinar emphysema" ], "HP:0033650": [ "pulmonary parenchymal band" ], "HP:0033651": [ "pulmonary mycetoma", "lung fungus ball" ], "HP:0033652": [ "broncholith" ], "HP:0033653": [ "bronchocele" ], "HP:0033654": [ "bead septum sign", "beaded septum sign" ], "HP:0033655": [ "pulmonary cavity", "pulmonary cavern" ], "HP:0033656": [ "juxtaphrenic peak" ], "HP:0033657": [ "linear atelectasis", "discoid atelectasis", "platelike atelectasis" ], "HP:0033658": [ "round atelectasis", "rounded atelectasis", "blesovsky syndrome", "comet tail sign", "fold lung syndrome", "folded lung syndrome", "helical atelectasis", "pleural pseudotumor", "pleuroma" ], "HP:0033659": [ "crazy - paving pattern" ], "HP:0033660": [ "hand paresthesia", "hand tingle", "hand tingling" ], "HP:0033661": [ "air crescent" ], "HP:0033662": [ "air bronchogram" ], "HP:0033663": [ "air trap", "air trapping" ], "HP:0033664": [ "ganglioglioma" ], "HP:0033665": [ "diminish health - related quality of life", "diminished health - related quality of life" ], "HP:0033666": [ "diminished physical functioning", "decline in physical functional health", "diminished physical health" ], "HP:0033667": [ "diminish mental health", "diminished mental health", "mental impairment", "reduce mental health", "reduced mental health" ], "HP:0033668": [ "abnormal amygdala morphology", "abnormal morphology of the amygdala" ], "HP:0033669": [ "enlarge amygdala", "enlarged amygdala", "amygdalar enlargement" ], "HP:0033670": [ "organize pneumonia", "organizing pneumonia" ], "HP:0033671": [ "pulmonary oligemia" ], "HP:0033672": [ "positive carpal tinel sign", "positive carpal hoffmann tinel sign" ], "HP:0033673": [ "positive phalen test", "phalen maneuver", "phalen manoeuvre" ], "HP:0033674": [ "pulmonary blood flow redistribution" ], "HP:0033675": [ "frailty" ], "HP:0033676": [ "posttraumatic stress symptom" ], "HP:0033677": [ "acute respiratory distress syndrome" ], "HP:0033678": [ "acute coronary syndrome" ], "HP:0033679": [ "abnormal red nucleus morphology" ], "HP:0033680": [ "pilocytic astrocytoma" ], "HP:0033681": [ "oligodendroglioma" ], "HP:0033682": [ "pleomorphic xanthoastrocytoma" ], "HP:0033683": [ "jaw hyperreflexia", "brisk jaw jerk" ], "HP:0033684": [ "abnormal muscle fiber - type distribution" ], "HP:0033685": [ "fiber type grouping", "fibre type grouping" ], "HP:0033686": [ "mitochondrial hypertrophy", "megamitochondria" ], "HP:0033687": [ "short term memory impairment", "short term memory loss" ], "HP:0033688": [ "long term memory impairment", "long term memory loss" ], "HP:0033689": [ "anterograde memory impairment", "anterograde amnesia" ], "HP:0033690": [ "retrograde memory impairment", "retrograde amnesia" ], "HP:0033691": [ "procedural memory loss", "impaired procedural memory", "procedural memory deficit" ], "HP:0033692": [ "declarative memory loss", "impaired declarative memory" ], "HP:0033693": [ "phantosmia", "olfactory hallucination", "phantom odor", "phantom odour", "phantom smell" ], "HP:0033694": [ "tactile hallucination", "tactile hallucinations" ], "HP:0033695": [ "occupational disability" ], "HP:0033696": [ "pseudo - chilblain", "chilblain - like lesion" ], "HP:0033697": [ "vesicular eruption" ], "HP:0033698": [ "monomorphic vesicular eruption" ], "HP:0033699": [ "polymorphic vesicular eruption" ], "HP:0033700": [ "papulovesicular eruption", "papulo - vesicular eruption" ], "HP:0033701": [ "cortical sclerosis of the iliac wing" ], "HP:0033702": [ "subpleural curvilinear line" ], "HP:0033703": [ "dysembryoplastic neuroepithelial tumor" ], "HP:0033704": [ "elevate urinary homogentisic acid", "elevated urinary homogentisic acid" ], "HP:0033705": [ "tearfulness" ], "HP:0033706": [ "progressive massive fibrosis" ], "HP:0033707": [ "perioral hyperkeratosis" ], "HP:0033708": [ "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody positivity", "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody", "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibodies", "anti - hmgcr autoantibody", "anti - hmgcr autoantibodies" ], "HP:0033709": [ "increase sputum production", "increased sputum production", "increase phlegm", "increased phlegm" ], "HP:0033710": [ "rest dyspnea", "breathlessness at rest", "dyspnea at rest", "dyspnoea at rest", "shortness of breath at rest" ], "HP:0033711": [ "pulmonary interstitial thickening" ], "HP:0033712": [ "repeat implantation failure", "repeated implantation failure", "recurrent implantation failure" ], "HP:0033713": [ "anti - signal recognition particle antibody positivity" ], "HP:0033714": [ "multiple meningiomata", "multifocal meningiomata" ], "HP:0033715": [ "hippocampal sclerosis", "mesial temporal sclerosis" ], "HP:0033716": [ "eeg with frontal epileptiform discharge", "eeg with frontal epileptiform discharges" ], "HP:0033717": [ "eeg with temporal epileptiform discharge", "eeg with temporal epileptiform discharges" ], "HP:0033718": [ "eeg with central epileptiform discharge", "eeg with central epileptiform discharges" ], "HP:0033719": [ "eeg with parietal epileptiform discharge", "eeg with parietal epileptiform discharges" ], "HP:0033720": [ "eeg with occipital epileptiform discharge", "eeg with occipital epileptiform discharges" ], "HP:0033721": [ "eeg with centrotemporal epileptiform discharge", "eeg with centrotemporal epileptiform discharges" ], "HP:0033722": [ "autonomic epileptic aura", "autonomic aura", "autonomic auras", "vegetative aura" ], "HP:0033723": [ "abnormal cerebral venous sinus morphology", "abnormal dural venous sinus morphology", "abnormality of the cerebral venous sinus", "abnormality of the cerebral venous sinuses" ], "HP:0033724": [ "central venous sinus thrombosis" ], "HP:0033725": [ "thin corpus callosum", "small corpus callosum", "thinning of the corpus callosum" ], "HP:0033726": [ "lupus nephritis" ], "HP:0033727": [ "diffuse lupus nephritis", "class iv lupus nephritis" ], "HP:0033728": [ "mesangial proliferative lupus nephritis", "class ii lupus nephritis" ], "HP:0033729": [ "minimal mesangial lupus nephritis", "class i lupus nephritis" ], "HP:0033730": [ "membranous lupus nephritis", "class v lupus nephritis" ], "HP:0033731": [ "focal lupus nephritis", "class iii lupus nephritis" ], "HP:0033732": [ "advanced sclerotic lupus nephritis", "class vi lupus nephritis" ], "HP:0033733": [ "low - grade vesicoureteral reflux" ], "HP:0033734": [ "high - grade vesicoureteral reflux" ], "HP:0033735": [ "grade i vesicoureteral reflux", "grade i vur" ], "HP:0033736": [ "grade ii vesicoureteral reflux", "grade ii vur" ], "HP:0033737": [ "grade iii vesicoureteral reflux", "grade iii vur" ], "HP:0033738": [ "primary vesicoureteral reflux" ], "HP:0033739": [ "secondary vesicoureteral reflux" ], "HP:0033740": [ "grade v vesicoureteral reflux", "grade v vur" ], "HP:0033741": [ "grade iv vesicoureteral reflux", "grade iv vur" ], "HP:0033742": [ "intrarenal reflux" ], "HP:0033743": [ "macular agenesis" ], "HP:0033744": [ "global cerebellar dysplasia" ], "HP:0033745": [ "dysplasia of the superior cerebellar vermis" ], "HP:0033746": [ "intrascapular pain", "pain between shoulder blade", "pain between shoulder blades" ], "HP:0033747": [ "abnormal exteroceptive sensation" ], "HP:0033748": [ "hypoesthesia", "hypoaesthesia", "numbness" ], "HP:0033749": [ "abnormal functional residual capacity" ], "HP:0033750": [ "reduce functional residual capacity", "reduced functional residual capacity" ], "HP:0033751": [ "elevate functional residual capacity", "elevated functional residual capacity" ], "HP:0033752": [ "abnormal residual volume" ], "HP:0033753": [ "reduce residual volume", "reduced residual volume" ], "HP:0033754": [ "abnormal leave ventricular end - diastolic volume", "abnormal left ventricular end - diastolic volume" ], "HP:0033755": [ "increase leave ventricular end - diastolic volume", "increased left ventricular end - diastolic volume" ], "HP:0033756": [ "decrease leave ventricular end - diastolic volume", "decreased left ventricular end - diastolic volume" ], "HP:0033757": [ "pancreatic steatosis", "fatty pancreas", "non - alcoholic fatty pancreatic disease", "pancreatic fatty infiltration", "pancreatic fatty replacement", "pancreatic lipomatosis", "pancreatic lipomatous pseudohypertrophy" ], "HP:0033758": [ "labial abscess", "abscess of the labium", "abscess of the labia" ], "HP:0033759": [ "impaired renal tubular reabsorption of magnesium" ], "HP:0033760": [ "decrease maximal oxygen uptake", "decreased maximal oxygen uptake" ], "HP:0033761": [ "xanthogranulomatous pyelonephritis" ], "HP:0033762": [ "middle cerebral artery stroke" ], "HP:0033763": [ "death in adulthood" ], "HP:0033764": [ "death in middle age" ], "HP:0033765": [ "death in late adulthood" ], "HP:0033766": [ "polymelia" ], "HP:0033767": [ "abnormal single motor unit action potential" ], "HP:0033768": [ "penile thrush", "penile candidiasis" ], "HP:0033769": [ "fundic gland polyposis", "fundic gland polyp", "fundic gland polyps", "gastric polyposis", "proximal polyposis of the stomach" ], "HP:0033770": [ "gastric adenocarcinoma" ], "HP:0033771": [ "pleuritic chest pain" ], "HP:0033772": [ "abnormal rv / tlc ratio" ], "HP:0033773": [ "decrease rv / tlc ratio", "decreased rv / tlc ratio" ], "HP:0033774": [ "impaired renal tubular reabsorption of uric acid" ], "HP:0033775": [ "pulmonary imaging sign" ], "HP:0033776": [ "enamel pearl", "enamel pearls" ], "HP:0033777": [ "supernumerary cusp", "additional cusp", "extra cusp" ], "HP:0033778": [ "leung cusp" ], "HP:0033779": [ "barrel - shape tooth", "barrel - shaped tooth" ], "HP:0033780": [ "bulbous tooth" ], "HP:0033781": [ "taper tooth", "tapered tooth" ], "HP:0033782": [ "semilunar tooth", "crescent - shape tooth", "hutchinson incisor", "semicircular tooth", "tooth , semilunar" ], "HP:0033783": [ "molar incisor malformation" ], "HP:0033784": [ "dentin dysplasia" ], "HP:0033785": [ "enamel agenesis" ], "HP:0033786": [ "hypomature enamel", "enamel opacity" ], "HP:0033787": [ "cementum hypoplasia", "cementum aplasia" ], "HP:0033788": [ "cementum overgrowth", "cementation hyperplasia", "cementum hypertrophy", "cementum overdeveloped", "drumstick - shaped root", "hypercementosis" ], "HP:0033789": [ "trigger by cheese ingestion", "triggered by cheese ingestion" ], "HP:0033790": [ "thistle tube shape pulp", "thistle tube shaped pulp", "flame - shape pulp", "flame - shaped pulp" ], "HP:0033791": [ "tooth ankylosis" ], "HP:0033792": [ "cross bite" ], "HP:0033793": [ "trigger by food ingestion", "triggered by food ingestion" ], "HP:0033794": [ "acral overgrowth", "acral enlargement", "acral hypertrophy", "acromegalic growth", "acromegaly" ], "HP:0033795": [ "growth without growth hormone" ], "HP:0033796": [ "abnormal leukocyte physiology" ], "HP:0033797": [ "leukocyte migration defect", "abnormal leukocyte migration", "defect of leukocyte migration", "defects of leukocyte migration" ], "HP:0033798": [ "impaired leukocyte adhesion" ], "HP:0033799": [ "abnormal circulate sex hormone concentration", "abnormal circulating sex hormone concentration", "abnormal circulate gonadal steroid concentration", "abnormal circulating gonadal steroid concentration", "abnormal circulate gonadocorticoid concentration", "abnormal circulating gonadocorticoid concentration", "abnormal circulate sex steroid concentration", "abnormal circulating sex steroid concentration" ], "HP:0033800": [ "blistering by anatomical location" ], "HP:0033801": [ "blistering by histological location" ], "HP:0033802": [ "intra - epidermal blistering" ], "HP:0033803": [ "blister with sub - lamina densa plane of cleavage", "blistering with sub - lamina densa plane of cleavage" ], "HP:0033804": [ "subepidermal blistering" ], "HP:0033805": [ "non - necrotizing granuloma" ], "HP:0033806": [ "abnormal epidermis stratum granulosum morphology" ], "HP:0033807": [ "absent keratohyalin granule", "absent keratohyalin granules" ], "HP:0033808": [ "spermatocele" ], "HP:0033809": [ "increase circulate 17 hydroxypregnenolone concentration", "increased circulating 17 hydroxypregnenolone concentration" ], "HP:0033810": [ "decrease circulate dihydrotestosterone concentration", "decreased circulating dihydrotestosterone concentration" ], "HP:0033811": [ "abnormal circulate androstenedione concentration", "abnormal circulating androstenedione concentration" ], "HP:0033812": [ "decrease circulate androstenedione concentration", "decreased circulating androstenedione concentration" ], "HP:0033813": [ "perilobular" ], "HP:0033814": [ "paraseptal" ], "HP:0033815": [ "bronchocentric" ], "HP:0033816": [ "centrilobular" ], "HP:0033817": [ "miliary" ], "HP:0033818": [ "reticular" ], "HP:0033819": [ "perilymphatic" ], "HP:0033820": [ "apical" ], "HP:0033821": [ "pulmonary mass" ], "HP:0033822": [ "mass on thoracic imaging" ], "HP:0033823": [ "mediastinal mass" ], "HP:0033824": [ "pleural mass" ], "HP:0033825": [ "superior mediastinal mass" ], "HP:0033826": [ "inferior mediastinal mass" ], "HP:0033827": [ "anterior mediastinal mass" ], "HP:0033828": [ "middle mediastinal mass" ], "HP:0033829": [ "posterior mediastinal mass" ], "HP:0033830": [ "hyperdense pulmonary mass" ], "HP:0033831": [ "cavitating pulmonary mass" ], "HP:0033832": [ "livedo", "livedoid dermatitis" ], "HP:0033833": [ "elevate circulate soluble cd25 concentration", "elevated circulating soluble cd25 concentration", "elevate circulate interleukin - 2 receptor alpha - chain", "elevated circulating interleukin - 2 receptor alpha - chain" ], "HP:0033834": [ "malaise" ], "HP:0033835": [ "abnormal renal vascular morphology" ], "HP:0033836": [ "abnormal intrarenal artery morphology", "abnormal kidney arterial blood vessel morphology" ], "HP:0033837": [ "abnormal arcuate artery morphology", "abnormality of arcuate artery", "abnormalities of arcuate arteries" ], "HP:0033838": [ "dysphoria" ], "HP:0033839": [ "testicular pain", "pain in testicle", "pain in testicles" ], "HP:0033840": [ "postmenopausal bleed", "postmenopausal bleeding" ], "HP:0033841": [ "ocular pruritus", "itchy eye", "itchy eyes", "ocular itch" ], "HP:0033842": [ "early satiety", "feel full quickly when eat", "feeling full quickly when eating", "not able to finish a normal - size meal", "not able to finish a normal - sized meal" ], "HP:0033843": [ "postprandial fullness" ], "HP:0033844": [ "tachyphrenia", "race thought", "racing thoughts" ], "HP:0033845": [ "sense of impend doom", "sense of impending doom", "sense of doom" ], "HP:0033846": [ "spinal hypomyelination" ], "HP:0033847": [ "phantageusia", "phantom taste" ], "HP:0033848": [ "receptive aphasia", "fluent aphasia", "wernicke aphasia" ], "HP:0033849": [ "bilingual aphasia" ], "HP:0033850": [ "coldness", "cold skin temperature", "cool skin", "cool skin temperature", "coolness to palpation" ], "HP:0033851": [ "oculomotor synkinesis" ], "HP:0033852": [ "abnormal intrarenal vein morphology" ], "HP:0033853": [ "abnormal arcuate vein morphology" ], "HP:0033854": [ "abnormal interlobular vein morphology" ], "HP:0033855": [ "abnormal interlobular vein lumen morphology", "abnormal morphology of the interlobular vein lumen" ], "HP:0033856": [ "cholesterol embolus within interlobular vein lumen", "cholesterol emboli within interlobular vein lumen" ], "HP:0033857": [ "intraluminal thrombus within interlobular vein", "intraluminal thrombi within interlobular veins" ], "HP:0033858": [ "organize thrombus within interlobular vein lumen", "organized thrombi within interlobular vein lumen" ], "HP:0033859": [ "abnormal peritubular capillary morphology" ], "HP:0033860": [ "abnormal cortical peritubular capillary morphology" ], "HP:0033861": [ "multilamellation of cortical peritubular capillary basement membrane", "multilamellation of cortical peritubular capillary basement membranes", "multilamellation of basement membrane within cortical peritubular capillary", "multilamellation of basement membranes within cortical peritubular capillaries" ], "HP:0033862": [ "cortical peritubular capillaritis" ], "HP:0033863": [ "abnormal cortical peritubular capillary lumen morphology" ], "HP:0033864": [ "abnormal medullary peritubular capillary morphology" ], "HP:0033865": [ "medullary peritubular capillaritis" ], "HP:0033866": [ "medullary peritubular capillary erythrocyte congestion" ], "HP:0033867": [ "multilamellation of medullary peritubular capillary basement membrane", "multilamellation of medullary peritubular capillary basement membranes", "multilamellation of basement membrane within medullary peritubular capillary", "multilamellation of basement membranes within medullary peritubular capillaries" ], "HP:0033868": [ "abnormal medullary peritubular capillary lumen morphology" ], "HP:0033869": [ "medullary peritubular capillary lumen cholesterol embolus", "medullary peritubular capillary lumen cholesterol emboli", "cholesterol embolus within the medullary peritubular capillary lumen", "cholesterol emboli within the medullary peritubular capillary lumen" ], "HP:0033870": [ "medullary peritubular capillary intraluminal thrombus", "medullary peritubular capillary intraluminal thrombi", "intraluminal thrombus within medullary peritubular capillary", "intraluminal thrombi within medullary peritubular capillaries" ], "HP:0033871": [ "medullary peritubular capillary lumen organize thrombus", "medullary peritubular capillary lumen organized thrombi", "organize thrombus within the medullary peritubular capillary lumen", "organized thrombi within the medullary peritubular capillary lumen" ], "HP:0033872": [ "cortical peritubular capillary lumen cholesterol embolus", "cortical peritubular capillary lumen cholesterol emboli" ], "HP:0033873": [ "cortical peritubular capillary intraluminal thrombus", "cortical peritubular capillary intraluminal thrombi", "intraluminal thrombus within cortical peritubular capillary", "intraluminal thrombi within cortical peritubular capillaries" ], "HP:0033874": [ "cortical peritubular capillary lumen organize thrombus", "cortical peritubular capillary lumen organized thrombi" ], "HP:0033875": [ "abnormal arcuate vein lumen morphology" ], "HP:0033876": [ "arcuate vein lumen cholesterol embolus", "arcuate vein lumen cholesterol emboli", "cholesterol embolus within arcuate vein lumen", "cholesterol emboli within arcuate vein lumen" ], "HP:0033877": [ "arcuate vein intraluminal thrombus", "arcuate vein intraluminal thrombi", "intraluminal thrombus within arcuate vein", "intraluminal thrombi within arcuate veins" ], "HP:0033878": [ "arcuate vein lumen organize thrombus", "arcuate vein lumen organized thrombi", "organize thrombus within arcuate vein lumen", "organized thrombi within arcuate vein lumen" ], "HP:0033879": [ "abnormal arcuate vein intima / medium morphology", "abnormal arcuate vein intima / media morphology" ], "HP:0033880": [ "arcuate vein intimal mucoid edema", "intimal mucoid edema within arcuate vein", "intimal mucoid edema within arcuate veins" ], "HP:0033881": [ "arcuate vein intimal / medial myxomatous degeneration", "myxomatous change within arcuate vein intima / medium", "myxomatous change within arcuate vein intima / media" ], "HP:0033882": [ "arcuate vein intima / medial amyloidosis", "amyloidosis within arcuate vein intima / medium", "amyloidosis within arcuate vein intima / media" ], "HP:0033883": [ "abnormal cortical radial artery morphology", "abnormal interlobular artery morphology" ], "HP:0033884": [ "abnormal cortical radial artery lumen morphology", "abnormal interlobular arterial lumen morphology" ], "HP:0033885": [ "cortical radial artery lumen cholesterol embolus", "cortical radial artery lumen cholesterol emboli" ], "HP:0033886": [ "abnormal arcuate artery intima / medium morphology", "abnormal arcuate artery intima / media morphology", "abnormality of the arcuate arterial intima / medium", "abnormalities of the arcuate arterial intima / media" ], "HP:0033887": [ "cortical radial artery intimal / medial amyloidosis", "amyloidosis within interlobular arterial intima / medium", "amyloidosis within interlobular arterial intima / media", "interlobular arterial intima / medium amyloidosis", "interlobular arterial intima / media amyloidosis" ], "HP:0033888": [ "abnormal cortical radial artery intima / medium morphology", "abnormal cortical radial artery intima / media morphology", "abnormality of the interlobular arterial intima / medium", "abnormalities of the interlobular arterial intima / media" ], "HP:0033889": [ "abnormal renal arteriole morphology" ], "HP:0033890": [ "abnormal renal arteriole lumen morphology" ], "HP:0033891": [ "renal arteriolar lumen cholesterol embolus", "renal arteriolar lumen cholesterol emboli", "cholesterol embolus within the arteriolar lumen", "cholesterol emboli within the arteriolar lumen" ], "HP:0033892": [ "abnormal renal arteriole intima / medium morphology", "abnormal renal arteriole intima / media morphology" ], "HP:0033893": [ "renal arteriolar lumen organize thrombus", "renal arteriolar lumen organized thrombi" ], "HP:0033894": [ "renal arteriolar intraluminal thrombus", "renal arteriolar intraluminal thrombi" ], "HP:0033895": [ "abnormal renal arteriole endothelium morphology" ], "HP:0033896": [ "abnormal arcuate artery lumen morphology", "abnormality of the arcuate arterial lumen", "abnormalities of the arcuate arterial lumen" ], "HP:0033897": [ "arcuate artery lumen cholesterol embolus", "arcuate artery lumen cholesterol emboli", "cholesterol embolus within arcuate arterial lumen", "cholesterol emboli within arcuate arterial lumen" ], "HP:0033898": [ "arcuate artery intraluminal thrombus", "arcuate artery intraluminal thrombi", "intraluminal thrombus within arcuate arterial lumen", "intraluminal thrombi within arcuate arterial lumen" ], "HP:0033899": [ "arcuate artery lumen organize thrombus", "arcuate artery lumen organized thrombi", "organize thrombus within arcuate arterial lumen", "organized thrombi within arcuate arterial lumen" ], "HP:0033900": [ "renal arteriole intima / medium amyloidosis", "renal arteriole intima / media amyloidosis", "amyloidosis within renal arteriolar intima / medium", "amyloidosis within renal arteriolar intima / media" ], "HP:0033901": [ "abnormal arcuate artery endothelium morphology" ], "HP:0033902": [ "arcuate artery endotheliosis", "endotheliosis within arcuate artery", "endotheliosis within arcuate arteries" ], "HP:0033903": [ "arcuate artery endoarterial hypercellularity", "endoarterial hypercellularity within arcuate artery" ], "HP:0033904": [ "renal arteriole intima / medium hyalinosis", "renal arteriole intima / media hyalinosis" ], "HP:0033905": [ "arcuate artery intima / medium arteriosclerosis", "arcuate artery intima / media arteriosclerosis", "arteriosclerosis within arcuate arterial intima / medium", "arteriosclerosis within arcuate arterial intima / media" ], "HP:0033906": [ "renal intimal / medial arteriolitis" ], "HP:0033907": [ "renal arteriole intima / medium arteriolosclerosis", "renal arteriole intima / media arteriolosclerosis" ], "HP:0033908": [ "renal arteriole medial atrophy" ], "HP:0033909": [ "arcuate vein medial hypertrophy", "medial hypertrophy within arcuate vein", "medial hypertrophy within arcuate veins" ], "HP:0033910": [ "arcuate vein medial atrophy", "medial atrophy within arcuate vein", "medial atrophy within arcuate veins" ], "HP:0033911": [ "cortical radial artery medial hypertrophy", "interlobular artery medial hypertrophy", "medial hypertrophy within interlobular artery", "medial hypertrophy within interlobular arteries" ], "HP:0033912": [ "cortical radial artery medial atrophy", "interlobular artery medial atrophy", "medial atrophy within interlobular artery", "medial atrophy within interlobular arteries" ], "HP:0033913": [ "cortical radial artery medial / intimal arteriitis", "arteritis within interlobular arterial intima / medium", "arteritis within interlobular arterial intima / media", "interlobular artery medial / intimal arteriitis" ], "HP:0033914": [ "arcuate artery intima / medium amyloidosis", "arcuate artery intima / media amyloidosis", "amyloidosis within arcuate arterial intima / medium", "amyloidosis within arcuate arterial intima / media" ], "HP:0033915": [ "arcuate artery intimal mucoid edema" ], "HP:0033916": [ "medial / intimal arcuate venosclerosis" ], "HP:0033917": [ "arcuate intimal / medial venulitis", "venulitis within arcuate vein intima / medium", "venulitis within arcuate vein intima / media" ], "HP:0033918": [ "renal arteriole medial hypertrophy", "medial hypertrophy within arteriole", "medial hypertrophy within arterioles" ], "HP:0033919": [ "medial / intimal arcuate venulitis" ], "HP:0033920": [ "renal arteriole intima / medium storage material accumulation", "renal arteriole intima / media storage material accumulation", "accumulate storage material within arteriolar intima / medium", "accumulated storage material within arteriolar intima / media" ], "HP:0033921": [ "renal arteriole endoarterial hypercellularity", "endoarterial hypercellularity within arteriole", "endoarterial hypercellularity within arterioles" ], "HP:0033922": [ "renal arteriole leukocytic endoarterial hypercellularity" ], "HP:0033923": [ "renal arteriole foam cell endoarterial hypercellularity", "endoarterial hypercellularity within arteriole consist of foam cell", "endoarterial hypercellularity within arterioles consisting of foam cells" ], "HP:0033924": [ "renal arteriole neutrophil endoarterial hypercellularity", "endoarterial hypercellularity within arteriole consist of neutrophil", "endoarterial hypercellularity within arterioles consisting of neutrophils" ], "HP:0033925": [ "renal arteriole lymphocyte endoarterial hypercellularity", "endoarterial hypercellularity within arteriole consist of lymphocyte", "endoarterial hypercellularity within arterioles consisting of lymphocytes" ], "HP:0033926": [ "renal arteriole intimal / medial multilamellation", "multilamellation ( onion skin ) within renal arteriole intima / medium", "multilamellation ( onion skinning ) within renal arteriole intima / media", "renal arteriole intima / medium multilamellation", "renal arteriole intima / media multilamellation", "renal arteriole intimal / medial onion skin", "renal arteriole intimal / medial onion skinning" ], "HP:0033927": [ "arcuate artery endoarterial leukocyte hypercellularity", "endoarterial hypercellularity within arcuate artery consisting of leukocyte", "endoarterial hypercellularity within arcuate artery consisting of leukocytes" ], "HP:0033928": [ "arcuate artery endoarterial foam cell hypercellularity", "endoarterial hypercellularity within arcuate artery consisting of foam cell", "endoarterial hypercellularity within arcuate artery consisting of foam cells" ], "HP:0033929": [ "arcuate artery endoarterial neutrophil hypercellularity", "endoarterial hypercellularity within arcuate artery consisting of neutrophil", "endoarterial hypercellularity within arcuate artery consisting of neutrophils" ], "HP:0033930": [ "arcuate artery endoarterial lymphocyte hypercellularity", "endoarterial hypercellularity within arcuate artery consisting of lymphocyte", "endoarterial hypercellularity within arcuate artery consisting of lymphocytes" ], "HP:0033931": [ "arcuate artery intima / medium necrosis", "arcuate artery intima / media necrosis" ], "HP:0033932": [ "arcuate artery intima / medium coagulative necrosis", "arcuate artery intima / media coagulative necrosis", "coagulative necrosis within interlobular arterial intima / medium", "coagulative necrosis within interlobular arterial intima / media" ], "HP:0033933": [ "arcuate artery intima / medium liquefactive necrosis", "arcuate artery intima / media liquefactive necrosis", "liquefactive necrosis of the arcuate artery intima / medium", "liquefactive necrosis of the arcuate artery intima / media" ], "HP:0033934": [ "arcuate vein intimal / medial storage material accumulation", "multilamellation ( onion skin ) within arteriolar intima / medium", "multilamellation ( onion skinning ) within arteriolar intima / media", "renal arteriole intima / medium onion skin", "renal arteriole intima / media onion skinning" ], "HP:0033935": [ "cortical radial artery intima / medium necrosis", "cortical radial artery intima / media necrosis", "necrosis within interlobular arterial intima / medium", "necrosis within interlobular arterial intima / media" ], "HP:0033936": [ "cortical radial artery intima / medium liquefactive necrosis", "cortical radial artery intima / media liquefactive necrosis", "liquefactive necrosis within interlobular arterial intima / medium", "liquefactive necrosis within interlobular arterial intima / media" ], "HP:0033937": [ "cortical radial artery intima / medium coagulative necrosis", "cortical radial artery intima / media coagulative necrosis" ], "HP:0033938": [ "renal arteriole intima / medium necrosis", "renal arteriole intima / media necrosis" ], "HP:0033939": [ "renal arteriole intima / medium liquefactive necrosis", "renal arteriole intima / media liquefactive necrosis", "liquefactive necrosis of the renal arteriolar intima / medium", "liquefactive necrosis of the renal arteriolar intima / media" ], "HP:0033940": [ "renal arteriole intima / medium coagulative necrosis", "renal arteriole intima / media coagulative necrosis" ], "HP:0033941": [ "granulomatous arteriolitis of the arteriolar intima / medium", "granulomatous arteriolitis of the arteriolar intima / media", "granulomatous arteriolitis within arteriolar intima / medium", "granulomatous arteriolitis within arteriolar intima / media" ], "HP:0033942": [ "arcuate vein medial / intimal necrosis", "necrosis within arcuate vein intima / medium", "necrosis within arcuate vein intima / media" ], "HP:0033943": [ "arcuate vein medial / intimal coagulative necrosis", "coagulative necrosis within arcuate vein intima / medium", "coagulative necrosis within arcuate vein intima / media" ], "HP:0033944": [ "arcuate vein medial / intimal liquefactive necrosis", "liquefactive necrosis within arcuate vein intima / medium", "liquefactive necrosis within arcuate vein intima / media" ], "HP:0033945": [ "arcuate intimal / medial granulomatous venulitis" ], "HP:0033946": [ "arcuate vein intima / medium crystal accumulation", "arcuate vein intima / media crystal accumulation" ], "HP:0033947": [ "renal arteriole intima / medium crystal accumulation", "renal arteriole intima / media crystal accumulation", "accumulate crystal within renal arteriolar intima / medium", "accumulated crystals within renal arteriolar intima / media" ], "HP:0033948": [ "arcuate artery intima / medium arteriitis", "arcuate artery intima / media arteriitis", "arteritis within arcuate arterial intima / medium", "arteritis within arcuate arterial intima / media" ], "HP:0033949": [ "arcuate artery intima / medium granulomatous arteriitis", "arcuate artery intima / media granulomatous arteriitis", "granulomatous arteritis within arcuate arterial intima / medium", "granulomatous arteritis within arcuate arterial intima / media" ], "HP:0033950": [ "cortical radial artery intraluminal thrombus", "cortical radial artery intraluminal thrombi", "intraluminal thrombus within interlobular arterial lumen", "intraluminal thrombi within interlobular arterial lumen" ], "HP:0033951": [ "cortical radial artery intraluminal organize thrombus", "cortical radial artery intraluminal organized thrombi", "organize thrombus within interlobular arterial lumen", "organized thrombi within interlobular arterial lumen" ], "HP:0033952": [ "abnormal cortical radial artery endothelium morphology", "abnormality of the interlobular arterial endothelium", "abnormalities of the interlobular arterial endothelium" ], "HP:0033953": [ "cortical radial artery endotheliosis", "endotheliosis within interlobular artery", "endotheliosis within interlobular arteries" ], "HP:0033954": [ "cortical radial artery hypercellularity", "endoarterial hypercellularity within interlobular artery" ], "HP:0033955": [ "cortical radial artery leukocyte hypercellularity", "endoarterial hypercellularity within interlobular artery consisting of leukocyte", "endoarterial hypercellularity within interlobular artery consisting of leukocytes" ], "HP:0033956": [ "cortical radial artery lymphocyte hypercellularity", "endoarterial hypercellularity within interlobular artery consisting of lymphocyte", "endoarterial hypercellularity within interlobular artery consisting of lymphocytes" ], "HP:0033957": [ "cortical radial artery neutrophil hypercellularity", "endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophil", "endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils" ], "HP:0033958": [ "cortical radial artery foam cell hypercellularity", "endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cell", "endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells" ], "HP:0033959": [ "cortical radial artery intima / medium arteriosclerosis", "cortical radial artery intima / media arteriosclerosis", "arteriosclerosis within interlobular arterial intima / medium", "arteriosclerosis within interlobular arterial intima / media" ], "HP:0033960": [ "cortical radial artery intimal mucoid edema", "intimal mucoid edema within interlobular arterial intima / medium", "intimal mucoid edema within interlobular arterial intima / media" ], "HP:0033961": [ "cortical radial artery intima / medium multilamellation", "cortical radial artery intima / media multilamellation", "cortical radial artery intima / medium onion skin", "cortical radial artery intima / media onion skinning", "multilamellation ( onion skin ) within interlobular arterial intima / medium", "multilamellation ( onion skinning ) within interlobular arterial intima / media" ], "HP:0033962": [ "cortical radial artery medial / intimal granulomatous arteriitis" ], "HP:0033963": [ "abnormal interlobular vein intima / medium morphology", "abnormal interlobular vein intima / media morphology" ], "HP:0033964": [ "interlobular intima / medium venosclerosis", "interlobular intima / media venosclerosis", "venosclerosis within interlobular vein intima / medium", "venosclerosis within interlobular vein intima / media" ], "HP:0033965": [ "interlobular vein intimal mucoid edema", "intimal mucoid edema within interlobular vein", "intimal mucoid edema within interlobular veins" ], "HP:0033966": [ "interlobular vein intima / medium amyloidosis", "interlobular vein intima / media amyloidosis", "amyloidosis within interlobular vein intima / medium", "amyloidosis within interlobular vein intima / media" ], "HP:0033967": [ "interlobular vein intima / medium venulitis", "interlobular vein intima / media venulitis", "venulitis within interlobular vein intima / medium", "venulitis within interlobular vein intima / media" ], "HP:0033968": [ "interlobular vein intima / medium granulomatous venulitis", "interlobular vein intima / media granulomatous venulitis", "granulomatous venulitis within interlobular vein intima / medium", "granulomatous venulitis within interlobular vein intima / media" ], "HP:0033969": [ "interlobular vein intima / medium necrosis", "interlobular vein intima / media necrosis", "necrosis within interlobular vein intima / medium", "necrosis within interlobular vein intima / media" ], "HP:0033970": [ "interlobular vein intima / medium liquefactive necrosis", "interlobular vein intima / media liquefactive necrosis", "liquefactive necrosis within interlobular vein intima / medium", "liquefactive necrosis within interlobular vein intima / media" ], "HP:0033971": [ "interlobular vein intima / medium coagulative necrosis", "interlobular vein intima / media coagulative necrosis" ], "HP:0033972": [ "interlobular vein medial atrophy", "medial atrophy within interlobular vein", "medial atrophy within interlobular veins" ], "HP:0033973": [ "interlobular vein medial hypertrophy", "medial hypertrophy within interlobular vein", "medial hypertrophy within interlobular veins" ], "HP:0033974": [ "interlobular vein intima / medium multilamellation", "interlobular vein intima / media multilamellation", "interlobular vein intima / medium onion skin", "interlobular vein intima / media onion skinning", "multilamellation ( onion skin ) within interlobular vein intima / medium", "multilamellation ( onion skinning ) within interlobular vein intima / media" ], "HP:0033975": [ "absent second fingernail" ], "HP:0033976": [ "volar fingernail", "palmar fingernail", "ventral fingernail" ], "HP:0033977": [ "talar aplasia", "absent talus", "talus aplasia" ], "HP:0033978": [ "reduce beta - hexosaminidase activity", "reduced beta - hexosaminidase activity" ], "HP:0033979": [ "excessive dynamic airway collapse", "membranous tracheobronchomalacia" ], "HP:0033980": [ "paroxysmal tonic upgaze" ], "HP:0033981": [ "vertebral artery tortuosity", "tortuous vertebral artery", "tortuous vertebral arteries" ], "HP:0033982": [ "celiac artery dissection" ], "HP:0033983": [ "decrease circulate apolipoprotein c - ii concentration", "decreased circulating apolipoprotein c - ii concentration", "decrease plasma apolipoprotein c - ii", "decreased plasma apolipoprotein c - ii" ], "HP:0033984": [ "increase urinary 8 - oxo - 7,8 - dihydroguanosine level", "increased urinary 8 - oxo - 7,8 - dihydroguanosine level", "increase urinary 8 - oxo - 7,8 - dihydroguanosine", "increased urinary 8 - oxo - 7,8 - dihydroguanosine", "increase urinary 8 - oxo - gsn level", "increased urinary 8 - oxo - gsn level", "increase urine 8 - oxo - 7,8 - dihydroguanosine", "increased urine 8 - oxo - 7,8 - dihydroguanosine", "increase urine 8 - oxo - gmp", "increased urine 8 - oxo - gmp" ], "HP:0033985": [ "elongate femoral neck", "elongated femoral neck", "long femoral neck" ], "HP:0033986": [ "tortuous lymphatic vessel", "tortuous lymphatic vessels", "tortuous lymphatics" ], "HP:0033987": [ "phosphaturic mesenchymal tumor" ], "HP:0033988": [ "amygdala microinfarct" ], "HP:0033989": [ "hippocampal microinfarct" ], "HP:0033990": [ "cartilaginous tracheobronchomalacia", "cartilaginous malacia" ], "HP:0033991": [ "vas previa", "vasa previa" ], "HP:0033992": [ "chronotropic incompetence" ], "HP:0033993": [ "viral encephalitis" ], "HP:0033994": [ "dependency on parenteral nutrition" ], "HP:0033995": [ "microvillus inclusion", "microvillus inclusions" ], "HP:0033996": [ "microvillar pa - positive secretory granule", "microvillar pas - positive secretory granules" ], "HP:0033997": [ "perinuclear cardiomyocyte vacuolization" ], "HP:0033998": [ "single - lobed right lung" ], "HP:0033999": [ "bronchial hemorrhage", "bronchial bleeding" ], "HP:0034000": [ "tracheal hemorrhage", "tracheal bleeding" ], "HP:0034001": [ "anti - complement factor h antibody positivity", "cfh autoantibody", "cfh autoantibodies" ], "HP:0034002": [ "anti - phospholipase a2 receptor antibody positivity", "anti - pla2r antibody positivity" ], "HP:0034003": [ "broad medial eyebrow", "medial broadening of eyebrow", "medial broadening of eyebrows" ], "HP:0034004": [ "parosmia" ], "HP:0034005": [ "decrease dendritic spine number", "decreased dendritic spine number" ], "HP:0034006": [ "decrease urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio", "decreased urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio" ], "HP:0034007": [ "posterior atrophy of corpus callosum" ], "HP:0034008": [ "opto - chiasmatic atrophy" ], "HP:0034009": [ "pelvic lipomatosis" ], "HP:0034010": [ "increase megakaryocyte colony form unit count", "increased megakaryocyte colony forming unit count" ], "HP:0034011": [ "reduce progressive sperm motility", "reduced progressive sperm motility", "non - progressive sperm motility" ], "HP:0034012": [ "palmoplantar hypohidrosis" ], "HP:0034013": [ "curvilinear pericallosal lipoma" ], "HP:0034014": [ "tubulonodular pericallosal lipoma" ], "HP:0034015": [ "cavitating pulmonary nodule" ], "HP:0034016": [ "anti - hla antibody positivity", "anti - human leukocyte antigen antibody positivity" ], "HP:0034017": [ "anti - class i hla antibody positivity" ], "HP:0034018": [ "anti - class ii hla antibody positivity" ], "HP:0034019": [ "anti - hla - a antibody positivity" ], "HP:0034020": [ "anti - hla - a igg1 antibody positivity" ], "HP:0034021": [ "anti - hla - a igg3 antibody positivity" ], "HP:0034022": [ "anti - hla - b antibody positivity" ], "HP:0034023": [ "anti - hla - b igg1 antibody positivity" ], "HP:0034024": [ "anti - hla - b igg3 antibody positivity" ], "HP:0034025": [ "abnormal circulate gaba concentration", "abnormal circulating gaba concentration" ], "HP:0034026": [ "elevate circulate sacchoropine concentration", "elevated circulating sacchoropine concentration" ], "HP:0034027": [ "abnormal urinary non - proteinogenic amino acid level" ], "HP:0034028": [ "saccharopinuria" ], "HP:0034029": [ "hepatic foam cell", "hepatic foam cells" ], "HP:0034030": [ "lip cyanosis", "bluish lip", "bluish lips", "cyanotic lip", "cyanotic lips", "labial cyanosis" ], "HP:0034031": [ "facial cyanosis", "bluish face", "cyanotic face" ], "HP:0034032": [ "central cyanosis" ], "HP:0034033": [ "peripheral cyanosis" ], "HP:0034034": [ "differential cyanosis" ], "HP:0034035": [ "pharyngeal exudate", "fluid from the pharynx", "pharyngeal fluid" ], "HP:0034036": [ "pseudo - chilblain on toe", "pseudo - chilblains on toes", "chilblain - like toe lesion", "chilblain - like toe lesions", "chilblain - like toe", "chilblain - like toes", "covid toe" ], "HP:0034037": [ "pseudo - chilblain on finger", "pseudo - chilblains on fingers", "covid finger", "covid fingers" ], "HP:0034038": [ "silent hypoxemia" ], "HP:0034039": [ "ventricular couplet", "doublet premature ventricular contraction", "doublet premature ventricular contractions" ], "HP:0034040": [ "bidirectional ventricular tachycardia" ], "HP:0034041": [ "ventricular ectopy" ], "HP:0034042": [ "dorsal hirsutism" ], "HP:0040004": [ "abnormality of corneal shape" ], "HP:0040006": [ "mortality / age", "mortality / aging" ], "HP:0040007": [ "absent pigmentation of chest", "lack of skin color on chest", "lack of skin coloring on chest", "lack of skin colour on chest", "lack of skin colouring on chest" ], "HP:0040008": [ "aplasia of facial bone", "aplasia of facial bones", "absence of facial bone", "absence of facial bones", "agenesis of facial bone", "agenesis of facial bones", "aplasia of facial skeleton", "failure of development of facial bone", "failure of development of facial bones", "failure of development of facial skeleton", "miss facial bone", "missing facial bones" ], "HP:0040009": [ "hyperparakeratosis" ], "HP:0040010": [ "small posterior fossa" ], "HP:0040011": [ "flat posterior fossa" ], "HP:0040012": [ "chromosome breakage", "high frequency of chromosome break in lymphocyte", "high frequency of chromosome breaks in lymphocytes", "increase chromosomal breakage", "increased chromosomal breakage", "increase chromosomal breakage rate", "increased chromosomal breakage rate", "multiple chromosomal break", "multiple chromosomal breaks", "tendency to chromosomal breakage" ], "HP:0040013": [ "decrease mitochondrial number", "decreased mitochondrial number" ], "HP:0040014": [ "increase mitochondrial number", "increased mitochondrial number" ], "HP:0040015": [ "increased activity of mitochondrial respiratory chain" ], "HP:0040016": [ "prominent coccyx", "prominent tailbone" ], "HP:0040017": [ "protrude coccyx", "protruding coccyx", "protrude tailbone", "protruding tailbone" ], "HP:0040018": [ "clinodactyly of hallux", "curvature of big toe" ], "HP:0040019": [ "finger clinodactyly", "curvature of finger" ], "HP:0040020": [ "radial deviation of the 5th finger" ], "HP:0040021": [ "radial deviation of the thumb" ], "HP:0040022": [ "clinodactyly of the 2nd finger", "curvature of index finger", "second finger clinodactyly" ], "HP:0040023": [ "clinodactyly of the thumb", "curvature of thumb" ], "HP:0040024": [ "clinodactyly of the 3rd finger", "curvature of middle finger" ], "HP:0040025": [ "clinodactyly of the 4th finger", "curvature of ring finger" ], "HP:0040030": [ "chorioretinal hypopigmentation" ], "HP:0040031": [ "chorioretinal hyperpigmentation" ], "HP:0040032": [ "hypoplasia of the upper eyelid", "hypoplasia of the upper eyelids", "decreased size of upper eyelid", "hypotrophic upper eyelid", "short upper eyelid", "small upper eyelid", "underdevelopment of upper eyelid" ], "HP:0040033": [ "aplasia / hypoplasia of the fifth metatarsal bone", "absent / small 5th long bone of foot", "absent / underdevelop 5th long bone of foot", "absent / underdeveloped 5th long bone of foot" ], "HP:0040034": [ "abnormality of the second metatarsal bone", "abnormality of the 2nd long bone of foot" ], "HP:0040035": [ "abnormality of the fourth metatarsal bone", "abnormality of the 4th long bone of foot" ], "HP:0040036": [ "onychogryposis of fingernail", "overgrowth and curving of fingernail" ], "HP:0040039": [ "onycholysis of fingernail", "onycholysis of fingernails", "detachment of fingernail", "detachment of fingernails" ], "HP:0040040": [ "toenail onycholysis", "detachment of toenail", "detachment of toenails", "onycholysis of toenail", "onycholysis of toenails" ], "HP:0040042": [ "aplasia of the eccrine sweat gland", "aplasia of the eccrine sweat glands", "absent eccrine sweat gland", "absent eccrine sweat glands" ], "HP:0040043": [ "hypoplasia of the eccrine sweat gland", "hypoplasia of the eccrine sweat glands", "underdeveloped major sweat gland", "underdeveloped major sweat glands" ], "HP:0040044": [ "hypoplasia of the diaphragm", "underdeveloped diaphragm" ], "HP:0040045": [ "abnormal hemidiaphragm morphology", "abnormality of the hemidiaphragms" ], "HP:0040046": [ "abnormal leave hemidiaphragm morphology", "abnormal left hemidiaphragm morphology", "abnormality of the left hemidiaphragm" ], "HP:0040047": [ "abnormal right hemidiaphragm morphology", "abnormality of the right hemidiaphragm" ], "HP:0040049": [ "macular edema", "macular oedema" ], "HP:0040050": [ "sparse upper eyelash", "sparse upper eyelashes", "hypotrichosis of upper eyelash", "hypotrichosis of upper eyelashes", "partial absence of upper eyelash", "partial absence of upper eyelashes" ], "HP:0040051": [ "abnormality of upper eyelash", "abnormality of upper eyelashes" ], "HP:0040052": [ "abnormality of low eyelash", "abnormality of lower eyelashes" ], "HP:0040053": [ "long low eyelash", "long lower eyelashes", "ciliary trichomegaly of low eyelash", "ciliary trichomegaly of lower eyelashes", "increased length of low eyelash", "increased length of lower eyelashes" ], "HP:0040054": [ "short upper eyelash", "short upper eyelashes", "decreased length of upper eyelash", "decreased length of upper eyelashes" ], "HP:0040055": [ "short low eyelash", "short lower eyelashes", "decreased length of low eyelash", "decreased length of lower eyelashes" ], "HP:0040056": [ "absent upper eyelash", "absent upper eyelashes", "agenesis of upper eyelash", "agenesis of upper eyelashes", "aplasia of upper eyelash", "aplasia of upper eyelashes", "atrichia of upper eyelash", "atrichia of upper eyelashes", "failure of development of upper eyelash", "failure of development of upper eyelashes" ], "HP:0040057": [ "abnormality of nasal hair", "abnormality of nose hair" ], "HP:0040059": [ "calcification of rib", "calcification of ribs" ], "HP:0040061": [ "osteosclerosis of the radius" ], "HP:0040062": [ "slender radius" ], "HP:0040063": [ "decrease adipose tissue", "decreased adipose tissue", "decrease fat tissue", "decreased fat tissue" ], "HP:0040064": [ "abnormality of limb", "abnormality of limbs", "abnormal limb", "abnormal limbs", "dysmelia", "limb anomaly" ], "HP:0040065": [ "obsolete abnormal morphology of bone of the upper limb", "obsolete abnormal morphology of bones of the upper limbs" ], "HP:0040066": [ "obsolete abnormal morphology of bone of the low limb", "obsolete abnormal morphology of bones of the lower limbs", "abnormal low limb bone morphology", "abnormal lower limb bone morphology", "abnormal morphology of bone of the low limb", "abnormal morphology of bones of the lower limbs", "abnormal shape of bone of the low limb", "abnormal shape of bones of the lower limbs", "abnormality of low limb bone", "abnormality of lower limb bone" ], "HP:0040068": [ "abnormality of limb bone" ], "HP:0040069": [ "obsolete abnormal morphology of bone of the low limb", "obsolete abnormal morphology of bones of the lower limbs", "abnormal low limb bone morphology", "abnormal lower limb bone morphology", "abnormal morphology of bone of the low limb", "abnormal morphology of bones of the lower limbs", "abnormal shape of bone of the low limb", "abnormal shape of bones of the lower limbs", "abnormality of low limb bone", "abnormality of lower limb bone" ], "HP:0040070": [ "abnormal upper limb bone morphology", "abnormal morphology of bone of the upper limb", "abnormal morphology of bones of the upper limbs", "abnormal shape of bone of the upper limb", "abnormal shape of bones of the upper limbs", "abnormality of upper limb bone" ], "HP:0040071": [ "abnormal morphology of ulna" ], "HP:0040072": [ "abnormality of forearm bone" ], "HP:0040073": [ "abnormal forearm bone morphology", "abnormal shape of of forearm bone" ], "HP:0040075": [ "hypopituitarism" ], "HP:0040078": [ "axonal degeneration" ], "HP:0040079": [ "irregular dentition", "irregular teeth" ], "HP:0040080": [ "anteverted ear", "anteverted ears" ], "HP:0040081": [ "abnormal circulate creatine kinase concentration", "abnormal circulating creatine kinase concentration", "abnormal circulate ck concentration", "abnormal circulating ck concentration", "abnormal circulate cpk concentration", "abnormal circulating cpk concentration", "abnormal circulation phospho - ck concentration", "abnormal level of creatine kinase in blood", "abnormal levels of creatine kinase in blood" ], "HP:0040082": [ "happy demeanor", "happy demeanour" ], "HP:0040083": [ "toe walk", "toe walking", "toe - walking" ], "HP:0040084": [ "abnormal circulating renin", "abnormal plasma renin" ], "HP:0040085": [ "abnormal circulate aldosterone", "abnormal circulating aldosterone", "abnormal plasma aldosterone" ], "HP:0040086": [ "abnormal prolactin level" ], "HP:0040087": [ "abnormal blood folate concentration", "abnormal serum folate", "abnormality of folate in blood" ], "HP:0040088": [ "abnormal lymphocyte count", "abnormal lymphocyte counts", "abnormal number of lymphocyte", "abnormal number of lymphocytes", "abnormal numbers of lymphocytes", "abnormality of lymphocyte number" ], "HP:0040089": [ "abnormal natural killer cell count", "abnormal nk cell count", "abnormal number of natural killer cell", "abnormal number of natural killer cells", "abnormality of natural killer cell count" ], "HP:0040090": [ "abnormality of the tympanic membrane", "abnormality of the eardrum" ], "HP:0040091": [ "asymmetry of the size of ear", "asymmetry of the size of ears" ], "HP:0040092": [ "asymmetry of the shape of the ear", "asymmetry of the shape of the ears" ], "HP:0040093": [ "asymmetry of the position of the ear", "asymmetry of the position of the ears", "uneven ear", "uneven ears" ], "HP:0040095": [ "neoplasm of the outer ear", "outer ear tumor", "outer ear tumour" ], "HP:0040096": [ "neoplasm of the inner ear", "inner ear tumor", "inner ear tumour" ], "HP:0040097": [ "neoplasm of the ceruminal gland", "adenoma of the ceruminous gland", "ceruminoma", "ceruminous adenoma" ], "HP:0040098": [ "basalioma of the outer ear" ], "HP:0040099": [ "abnormality of the round window" ], "HP:0040100": [ "abnormality of the vestibular window", "abnormality of the oval window" ], "HP:0040101": [ "cutaneous atresia of the external auditory canal" ], "HP:0040102": [ "osseous atresia of the external auditory canal" ], "HP:0040103": [ "cutaneous stenosis of the external auditory canal" ], "HP:0040104": [ "osseous stenosis of the external auditory canal" ], "HP:0040106": [ "morphological abnormality of the lateral semicircular canal", "morphological abnormality of the horizontal semicircular canal" ], "HP:0040107": [ "morphological abnormality of the posterior semicircular canal" ], "HP:0040108": [ "morphological abnormality of the anterior semicircular canal" ], "HP:0040109": [ "morphological abnormality of the utricle" ], "HP:0040110": [ "morphological abnormality of the saccule" ], "HP:0040111": [ "bilateral external ear deformity" ], "HP:0040112": [ "abnormal number of tubercle", "abnormal number of tubercles" ], "HP:0040113": [ "old - age sensorineural hearing impairment", "old - aged sensorineural hearing impairment", "presbycusis" ], "HP:0040114": [ "absence of the reflex of the tensor tympani muscle" ], "HP:0040115": [ "abnormality of the eustachian tube" ], "HP:0040116": [ "aplasia of the eustachian tube", "absent eustachian tube" ], "HP:0040117": [ "atresia of the eustachian tube" ], "HP:0040118": [ "stenosis of the eustachian tube" ], "HP:0040119": [ "unilateral conductive hearing impairment" ], "HP:0040120": [ "abnormality of the reflex of the tensor tympani muscle" ], "HP:0040121": [ "abnormality of the acoustic reflex", "abnormal auditory reflex", "abnormal middle - ear - muscle ( mem ) reflex", "abnormal middle - ear - muscles ( mem ) reflex", "abnormality of stapedial reflex" ], "HP:0040122": [ "impairment of the the acoustic reflex" ], "HP:0040123": [ "impairment of the reflex of the tensor tympani muscle" ], "HP:0040124": [ "patent tuba eustachii", "open tuba eustachii" ], "HP:0040126": [ "abnormal vitamin b12 level", "abnormal serum cobalamin level" ], "HP:0040127": [ "abnormal sweat homeostasis" ], "HP:0040128": [ "abnormal sweat electrolyte", "abnormal sweat electrolytes" ], "HP:0040129": [ "abnormal nerve conduction velocity", "abnormal nerve conduction", "abnormal nerve conduction velocities", "nerve conduction abnormality", "nerve conduction abnormalities" ], "HP:0040130": [ "abnormal serum iron concentration" ], "HP:0040131": [ "abnormal motor nerve conduction velocity" ], "HP:0040132": [ "abnormal sensory nerve conduction velocity" ], "HP:0040133": [ "abnormal circulate ferritin concentration", "abnormal circulating ferritin concentration", "abnormal plasma ferritin", "abnormal serum ferritin" ], "HP:0040134": [ "abnormal hepatic iron concentration", "abnormal liver iron concentration", "abnormal liver iron level" ], "HP:0040135": [ "abnormal transferrin saturation" ], "HP:0040137": [ "comedonal acne", "comedogenic acne" ], "HP:0040138": [ "mucinous histiocytosis", "histiocytosis , mucinous" ], "HP:0040139": [ "lipogranulomatosis" ], "HP:0040140": [ "degeneration of the striatum" ], "HP:0040141": [ "tardive dyskinesia" ], "HP:0040142": [ "reduce 5 - oxoprolinase level", "reduced 5 - oxoprolinase level", "5 - oxoprolinase deficiency" ], "HP:0040143": [ "dystopic o odontoideum", "dystopic os odontoideum" ], "HP:0040144": [ "l - 2 - hydroxyglutaric aciduria" ], "HP:0040145": [ "dicarboxylic acidemia" ], "HP:0040146": [ "d - 2 - hydroxyglutaric acidemia" ], "HP:0040147": [ "l - 2 - hydroxyglutaric acidemia" ], "HP:0040148": [ "cortical myoclonus" ], "HP:0040149": [ "woolly scalp hair", "afro - textured scalp hair", "kinky scalp hair texture", "nappy scalp hair texture", "wooly scalp hair" ], "HP:0040150": [ "epiblepharon of upper lid" ], "HP:0040151": [ "epiblepharon of low lid", "epiblepharon of lower lid" ], "HP:0040154": [ "acne inversa", "hidradenitis suppurativa", "pyoderma fistulans significa", "smoker 's boil", "smoker 's boils", "verneuil 's disease" ], "HP:0040155": [ "elevate urinary 3 - hydroxybutyric acid", "elevated urinary 3 - hydroxybutyric acid" ], "HP:0040156": [ "elevate urinary carboxylic acid", "elevated urinary carboxylic acid" ], "HP:0040157": [ "abnormal intermamillary distance" ], "HP:0040158": [ "short intermamillary distance" ], "HP:0040159": [ "abnormal space incisor", "abnormal spaced incisors", "abnormality of spacing of front teeth", "abnormality of spacing of incisor", "abnormality of spacing of incisors" ], "HP:0040160": [ "obsolete generalize osteoporosis with pathologic fracture", "obsolete generalized osteoporosis with pathologic fractures", "generalize osteoporosis", "generalized osteoporosis", "generalise osteoporosis", "generalised osteoporosis", "generalise osteoporosis with pathologic fracture", "generalised osteoporosis with pathologic fractures", "generalize osteoporosis with pathologic fracture", "generalized osteoporosis with pathologic fractures" ], "HP:0040161": [ "localize osteoporosis", "localized osteoporosis", "localise osteoporosis", "localised osteoporosis" ], "HP:0040162": [ "orthokeratosis" ], "HP:0040163": [ "abnormal pelvis bone morphology", "abnormal shape of pelvis bone" ], "HP:0040164": [ "lipoma of eyelid", "lipomas of eyelids", "fatty tumor on the eyelid", "fatty tumors on the eyelids", "fatty tumour on the eyelid", "fatty tumours on the eyelids" ], "HP:0040165": [ "periostitis", "periostalgia" ], "HP:0040166": [ "abnormality of the periosteum" ], "HP:0040167": [ "facial papilloma", "facial verruca", "facial wart" ], "HP:0040169": [ "loose anagen hair" ], "HP:0040170": [ "abnormality of hair growth" ], "HP:0040171": [ "obsolete decrease testosterone in male", "obsolete decreased testosterone in males", "decrease serum testosterone concentration", "decreased serum testosterone concentration", "decrease serum testosterone level", "decreased serum testosterone level", "decreased serum testosterone levels", "decrease testosterone", "decreased testosterone", "low serum testosterone level", "low serum testosterone levels" ], "HP:0040172": [ "abnormality of occipitofrontalis muscle" ], "HP:0040173": [ "abnormality of the tongue muscle", "abnormality of lingual muscle" ], "HP:0040174": [ "abnormality of extrinsic muscle of tongue", "abnormality of extrinsic lingual muscle" ], "HP:0040175": [ "platelet - activate factor acetylhydrolase deficiency", "platelet - activating factor acetylhydrolase deficiency" ], "HP:0040176": [ "abnormal circulate phospholipid concentration", "abnormal circulating phospholipid concentration", "abnormal level of phospholipid", "abnormal level of phospholipids" ], "HP:0040177": [ "abnormal level of platelet - activating factor", "abnormal level of paf" ], "HP:0040178": [ "increase level of platelet - activating factor", "increased level of platelet - activating factor", "increase level of paf", "increased level of paf" ], "HP:0040179": [ "decrease level of platelet - activating factor", "decreased level of platelet - activating factor", "decrease level of paf", "decreased level of paf" ], "HP:0040181": [ "chap lip", "chapped lip", "chapped lips", "cheilitis simplex", "common cheilitis", "dry lip", "dry lips", "perioral dermatitis" ], "HP:0040182": [ "inappropriate sinus tachycardia" ], "HP:0040183": [ "encopresis", "stool hold", "stool holding", "stool soil", "stool soiling" ], "HP:0040184": [ "oral bleeding", "oral haemorrhage", "oral hemorrhage" ], "HP:0040185": [ "macrothrombocytopenia", "macrothrombozytopenia" ], "HP:0040186": [ "maculopapular exanthema" ], "HP:0040187": [ "neonatal sepsis" ], "HP:0040188": [ "osteochondrosis" ], "HP:0040189": [ "scale skin", "scaling skin", "desquamation", "flake skin", "flaking skin", "peel skin", "peeling skin", "scaly skin" ], "HP:0040190": [ "white scaling skin", "white scaly skin" ], "HP:0040191": [ "rectus femoris muscle atrophy", "atrophy of the rectus femoris muscle", "atrophy of the rectus femoris muscles" ], "HP:0040192": [ "apudoma", "amine precursor uptake and decarboxylation tumour", "amine precursor uptake and decarboxylation tumours" ], "HP:0040194": [ "increase head circumference", "increased head circumference" ], "HP:0040195": [ "decrease head circumference", "decreased head circumference" ], "HP:0040196": [ "mild microcephaly" ], "HP:0040197": [ "encephalomalacia", "cerebral softening" ], "HP:0040198": [ "non - medullary thyroid carcinoma", "nonmedullary thyroid carcinoma", "thyroid cancer , nonmedullary" ], "HP:0040200": [ "motor impersistence", "negative chorea" ], "HP:0040201": [ "simultanapraxia" ], "HP:0040202": [ "abnormal consumption behavior", "abnormal consumption behaviour" ], "HP:0040203": [ "abnormal csf neopterin level" ], "HP:0040204": [ "elevate csf neopterin level", "elevated csf neopterin level" ], "HP:0040205": [ "decrease csf neopterin level", "decreased csf neopterin level" ], "HP:0040206": [ "abnormal circulate neopterin concentration", "abnormal circulating neopterin concentration" ], "HP:0040207": [ "abnormal csf biopterin level", "abnormal cerebrospinal fluid biopterin level" ], "HP:0040208": [ "elevate csf biopterin level", "elevated csf biopterin level" ], "HP:0040209": [ "decrease csf biopterin level", "decreased csf biopterin level", "low csf bh4 ( tetrahydrobiopterin )" ], "HP:0040210": [ "abnormal circulate biopterin concentration", "abnormal circulating biopterin concentration" ], "HP:0040211": [ "abnormal skin morphology of the palm" ], "HP:0040212": [ "risus sardonicus", "rictus grin" ], "HP:0040213": [ "hypopnea", "shallow breathing" ], "HP:0040214": [ "abnormal insulin level" ], "HP:0040215": [ "abnormal circulate insulin level", "abnormal circulating insulin level" ], "HP:0040216": [ "hypoinsulinemia" ], "HP:0040217": [ "elevate hemoglobin a1c", "elevated hemoglobin a1c", "elevate glycated haemoglobin", "elevated glycated haemoglobin", "elevate glycated hemoglobin", "elevated glycated hemoglobin", "elevate glycosylated haemoglobin", "elevated glycosylated haemoglobin", "elevate glycosylated hemoglobin", "elevated glycosylated hemoglobin", "elevate haemoglobin a1c", "elevated haemoglobin a1c", "elevate hba1c", "elevated hba1c", "increase hba1c level", "increased hba1c levels" ], "HP:0040218": [ "reduced natural killer cell count", "reduced natural killer cell number", "reduce nk cell number", "reduced nk cell number" ], "HP:0040219": [ "absent natural killer cell", "absent natural killer cells", "absent nk cell", "absent nk cells" ], "HP:0040220": [ "abnormal size of the dental root" ], "HP:0040221": [ "hypoplasia of the dental root" ], "HP:0040222": [ "maternal thrombophilia" ], "HP:0040223": [ "pulmonary hemorrhage", "intrapulmonary haemorrhage", "intrapulmonary hemorrhage", "pulmonary haemorrhage" ], "HP:0040224": [ "abnormality of fibrinolysis", "abnormality of the fibrinolytic system" ], "HP:0040225": [ "decrease in high molecular weight von willebrand factor multimers", "decrease in hmw vwf multimers" ], "HP:0040226": [ "decrease level of heparin co - factor ii", "decreased level of heparin co - factor ii", "heparin co - factor ii deficiency" ], "HP:0040227": [ "decrease level of histidine - rich glycoprotein", "decreased level of histidine - rich glycoprotein" ], "HP:0040228": [ "decrease level of plasminogen", "decreased level of plasminogen", "hypoplasminogenemia" ], "HP:0040229": [ "decrease level of thrombomodulin", "decreased level of thrombomodulin" ], "HP:0040230": [ "decrease level of tissue plasminogen activator", "decreased level of tissue plasminogen activator", "decrease level of tpa", "decreased level of tpa" ], "HP:0040231": [ "abnormal onset of bleed", "abnormal onset of bleeding" ], "HP:0040232": [ "delay onset bleed", "delayed onset bleeding" ], "HP:0040233": [ "factor xiii subunit a deficiency", "reduce factor xiii , subunit a", "reduced factor xiii , subunit a" ], "HP:0040234": [ "factor xiii subunit b deficiency", "reduce factor xiii , subunit b", "reduced factor xiii , subunit b" ], "HP:0040235": [ "leukocyte inclusion body", "leukocyte inclusion bodies", "dohle - like leukocyte inclusion body", "dohle - like leukocyte inclusion bodies", "inclusion body in leukocyte", "inclusion bodies in leukocytes" ], "HP:0040236": [ "hyperfibrinolysis" ], "HP:0040237": [ "impaired binding of factor viii to vwf", "von willebrand disease type ii normandy" ], "HP:0040238": [ "impaired neutrophil chemotaxis", "neutrophil migratory defect" ], "HP:0040239": [ "increase plasma vitamin k epoxide after vitamin k supplementation", "increased plasma vitamin k epoxide after vitamin k supplementation" ], "HP:0040240": [ "increase ratio of vwf propeptide to vwf antigen", "increased ratio of vwf propeptide to vwf antigen" ], "HP:0040241": [ "increase ripa", "increased ripa" ], "HP:0040242": [ "muscle hemorrhage", "muscle haemorrhage" ], "HP:0040243": [ "prolonged euglobulin clot lysis time" ], "HP:0040244": [ "prolong russell 's viper venom time", "prolonged russell 's viper venom time" ], "HP:0040245": [ "reduce alpha - 2 - antiplasmin activity", "reduced alpha - 2 - antiplasmin activity" ], "HP:0040246": [ "reduce antithrombin antigen", "reduced antithrombin antigen" ], "HP:0040247": [ "reduce euglobulin clot lysis time", "reduced euglobulin clot lysis time" ], "HP:0040248": [ "reduce plasminogen activator inhibitor 1 activity", "reduced plasminogen activator inhibitor 1 activity" ], "HP:0040249": [ "reduce plasminogen activator inhibitor 1 antigen", "reduced plasminogen activator inhibitor 1 antigen" ], "HP:0040250": [ "reduce prothrombin antigen", "reduced prothrombin antigen" ], "HP:0040251": [ "hand dimple", "hand dimples" ], "HP:0040252": [ "abnormal size of the clitoris" ], "HP:0040253": [ "increase size of the clitoris", "increased size of the clitoris" ], "HP:0040254": [ "decreased size of the clitoris" ], "HP:0040255": [ "aplasia / hypoplasia of the clitoris" ], "HP:0040256": [ "aplastic / hypoplastic nasopharyngeal adenoid", "aplastic / hypoplastic nasopharyngeal adenoids", "adenoid small or absent", "adenoids small or absent" ], "HP:0040257": [ "abnormal size of nasopharyngeal adenoid", "abnormal size of nasopharyngeal adenoids" ], "HP:0040258": [ "hypoplastic nasopharyngeal adenoid", "hypoplastic nasopharyngeal adenoids", "underdeveloped nasopharyngeal adenoid", "underdeveloped nasopharyngeal adenoids" ], "HP:0040259": [ "aplastic nasopharyngeal adenoid", "aplastic nasopharyngeal adenoids" ], "HP:0040260": [ "decreased size of nasopharyngeal adenoid", "decreased size of nasopharyngeal adenoids" ], "HP:0040261": [ "increase size of nasopharyngeal adenoid", "increased size of nasopharyngeal adenoids", "adenoid hypertrophy", "adenoid large", "adenoids large" ], "HP:0040262": [ "glue ear" ], "HP:0040263": [ "jaw ankylosis", "difficulty open mouth", "difficulty opening mouth" ], "HP:0040264": [ "jaw pain" ], "HP:0040265": [ "upper limb muscle hypertrophy" ], "HP:0040266": [ "proximal upper limb muscle hypertrophy" ], "HP:0040267": [ "distal upper limb muscle hypertrophy" ], "HP:0040268": [ "recurrent infection of the middle ear", "recurrent infections of the middle ear" ], "HP:0040269": [ "block eustachian tube", "blocked eustachian tube", "obstruction of eustachian tube" ], "HP:0040270": [ "impaired glucose tolerance", "decrease glucose tolerance", "decreased glucose tolerance", "glucose tolerance decrease", "glucose tolerance decreased" ], "HP:0040272": [ "hyperintensity of mri t2 signal of the spinal cord" ], "HP:0040273": [ "adenocarcinoma of the intestine", "adenocarcinoma of the intestines" ], "HP:0040274": [ "adenocarcinoma of the small intestine" ], "HP:0040275": [ "adenocarcinoma of the large intestine" ], "HP:0040276": [ "adenocarcinoma of the colon" ], "HP:0040277": [ "neoplasm of the pituitary gland" ], "HP:0040278": [ "prolactinoma" ], "HP:0040279": [ "frequency" ], "HP:0040280": [ "obligate", "obligate ( 100 % )" ], "HP:0040281": [ "very frequent", "very frequent ( 99 - 80 % )" ], "HP:0040282": [ "frequent", "frequent ( 79 - 30 % )" ], "HP:0040283": [ "occasional", "occasional ( 29 - 5 % )" ], "HP:0040284": [ "very rare", "very rare ( & lt ; 4 - 1 % )", "very rare ( < 4 - 1 % )" ], "HP:0040285": [ "exclude", "excluded", "exclude ( 0 % )", "excluded ( 0 % )" ], "HP:0040286": [ "abnormal axial muscle morphology", "abnormality of axial muscle", "abnormality of axial muscles" ], "HP:0040287": [ "axial muscle atrophy" ], "HP:0040288": [ "nasogastric tube feeding" ], "HP:0040289": [ "cyclic neutropenia", "cyn" ], "HP:0040291": [ "skeletal muscle steatosis", "steatosis of skeletal muscle", "steatosis of skeletal muscles" ], "HP:0040292": [ "leave hemiplegia", "left hemiplegia", "hemiplegia ( leave )", "hemiplegia ( left )" ], "HP:0040293": [ "right hemiplegia", "hemiplegia ( right )" ], "HP:0040294": [ "duplicate tongue", "duplicated tongue", "duplication of tongue", "tongue duplicate", "tongue duplicated", "tongue duplication" ], "HP:0040295": [ "duplication of the upper lip", "double upper lip" ], "HP:0040296": [ "abnormal location of the eyebrow", "abnormal location of eyebrow", "abnormal location of eyebrows", "abnormally place eyebrow", "abnormally placed eyebrows" ], "HP:0040297": [ "preauricular cyst" ], "HP:0040298": [ "hyperplasia of the endometrium", "hyperplastic endometrium" ], "HP:0040299": [ "decrease circulate free fatty acid level", "decreased circulating free fatty acid level", "low fatty acid level", "low fatty acids level" ], "HP:0040300": [ "abnormal circulate free fatty acid concentration", "abnormal circulating free fatty acid concentration", "abnormal circulate free fatty acid level", "abnormal circulating free fatty acid level" ], "HP:0040301": [ "increase urinary glycerol", "increased urinary glycerol" ], "HP:0040302": [ "hyperglycerolemia", "pseudohypertriglyceridemia" ], "HP:0040303": [ "decrease serum iron", "decreased serum iron", "low serum iron" ], "HP:0040304": [ "duplication of the sella turcica", "duplicate sella turcica", "duplicated sella turcica" ], "HP:0040305": [ "increase male libido", "increased male libido" ], "HP:0040306": [ "decrease male libido", "decreased male libido" ], "HP:0040307": [ "male sexual dysfunction" ], "HP:0040308": [ "male anorgasmia" ], "HP:0040309": [ "increase size of the mandible", "increased size of the mandible", "large jaw" ], "HP:0040310": [ "sterile arthritis" ], "HP:0040311": [ "symmetric polyarthritis" ], "HP:0040312": [ "temporomandibular arthritis", "arthritis of temporomandibular joint" ], "HP:0040313": [ "oligoarthritis" ], "HP:0040314": [ "blind vagina", "blind - end vagina", "blind - ended vagina" ], "HP:0040315": [ "tongue edema", "tongue oedema" ], "HP:0040317": [ "blue urine" ], "HP:0040318": [ "red urine" ], "HP:0040319": [ "dark urine" ], "HP:0040320": [ "red - brown urine", "red brown urine" ], "HP:0040321": [ "dark yellow urine" ], "HP:0040322": [ "purple urine" ], "HP:0040323": [ "erythema of the eyelid", "erythema of the eyelids", "erythema of eyelid", "eyelid erythema" ], "HP:0040324": [ "heliotrope rash", "heliotrope erythema" ], "HP:0040325": [ "bull 's eye rash" ], "HP:0040326": [ "hypoplasia of the olfactory bulb", "hypoplasia of olfactory bulb", "hypoplastic olfactory bulb" ], "HP:0040327": [ "abnormal morphology of the olfactory bulb" ], "HP:0040328": [ "focal hyperintensity of cerebral white matter on mri" ], "HP:0040329": [ "multifocal hyperintensity of cerebral white matter on mri" ], "HP:0040330": [ "confluent hyperintensity of cerebral white matter on mri" ], "HP:0040331": [ "focal hypointensity of cerebral white matter on mri" ], "HP:0040332": [ "multifocal hypointensity of cerebral white matter on mri" ], "HP:0040333": [ "confluent hypointensity of cerebral white matter on mri" ], "HP:0040334": [ "purulent rhinitis" ], "HP:0041042": [ "absent neutrophil lactoferrin" ], "HP:0041043": [ "neutrophil nuclear cleft", "neutrophil nuclear clefts" ], "HP:0041044": [ "low neutrophil alkaline phosphatase" ], "HP:0041045": [ "increase neutrophil mitochondrion", "increased neutrophil mitochondria" ], "HP:0041046": [ "increase neutrophil ribosome", "increased neutrophil ribosomes" ], "HP:0041047": [ "bladder outlet obstruction", "obstruction of bladder outlet" ], "HP:0041048": [ "decreased expression of gpi - anchored protein on the cell surface", "decreased expression of gpi - anchored proteins on the cell surface" ], "HP:0041049": [ "starch intolerance", "amylose - amylopectin intolerance" ], "HP:0041050": [ "renal tubular cyst", "renal tubule cyst" ], "HP:0041051": [ "ageusia", "absent sense of taste", "impaired taste sensation", "lose taste", "lost taste" ], "HP:0041052": [ "agenesis of putamen" ], "HP:0041053": [ "fracture head", "fractured head", "bone head" ], "HP:0041054": [ "obsolete fracture thoracic segment of trunk", "obsolete fractured thoracic segment of trunk" ], "HP:0041055": [ "fracture humerus", "fractured humerus", "bone humerus", "break humerus", "broken humerus", "fracture of the humerus", "humeral fracture", "humerus fracture" ], "HP:0041056": [ "hot cross bun sign" ], "HP:0041057": [ "transient decrease circulate igg4", "transient decreased circulating igg4", "transient decrease igg4 in blood", "transient decreased igg4 in blood" ], "HP:0041058": [ "chronic decrease circulate igg4", "chronic decreased circulating igg4", "chronic decrease igg4 in blood", "chronic decreased igg4 in blood" ], "HP:0041059": [ "chronic ( near ) absent circulate igg4", "chronic ( near ) absent circulating igg4", "chronic ( near ) absent igg4 in blood" ], "HP:0041060": [ "chronic partially decrease circulating igg4", "chronic partially decreased circulating igg4", "chronic partially decrease igg4 in blood", "chronic partially decreased igg4 in blood" ], "HP:0041061": [ "fracture calcaneus", "fractured calcaneus", "bone calcaneus" ], "HP:0041062": [ "transient decrease circulate igg2", "transient decreased circulating igg2", "transient decrease igg2 in blood", "transient decreased igg2 in blood" ], "HP:0041063": [ "chronic decrease cirulating igg2", "chronic decreased cirulating igg2", "chronic decrease igg2 in blood", "chronic decreased igg2 in blood" ], "HP:0041064": [ "fracture knee", "fractured knee", "bone knee" ], "HP:0041065": [ "chronic ( near ) absent circulate igg2", "chronic ( near ) absent circulating igg2", "chronic ( near ) absent igg2 in blood" ], "HP:0041066": [ "chronic partially decrease circulating igg2", "chronic partially decreased circulating igg2", "chronic partially decrease igg2 in blood", "chronic partially decreased igg2 in blood" ], "HP:0041067": [ "transient decrease circulate igg1", "transient decreased circulating igg1", "transient decrease igg1 in blood", "transient decreased igg1 in blood" ], "HP:0041068": [ "chronic decrease circulate igg1", "chronic decreased circulating igg1", "chronic decrease igg1 in blood", "chronic decreased igg1 in blood" ], "HP:0041069": [ "chronic ( near ) absent circulate igg1", "chronic ( near ) absent circulating igg1", "chronic ( near ) absent igg1 in blood" ], "HP:0041070": [ "chronic partially decrease circulating igg1", "chronic partially decreased circulating igg1", "chronic partially decrease igg1 in blood", "chronic partially decreased igg1 in blood" ], "HP:0041071": [ "transient decrease circulate igg3", "transient decreased circulating igg3", "transient decrease igg3 in blood", "transient decreased igg3 in blood" ], "HP:0041072": [ "chronic decrease circulate igg3", "chronic decreased circulating igg3", "chronic decrease igg3 in blood", "chronic decreased igg3 in blood" ], "HP:0041073": [ "fracture thoracic vertebra", "fractured thoracic vertebra", "bone thoracic vertebra" ], "HP:0041074": [ "chronic ( near ) absent circulate igg3", "chronic ( near ) absent circulating igg3", "chronic ( near ) absent igg3 in blood" ], "HP:0041075": [ "chronic partially decrease circulating igg3", "chronic partially decreased circulating igg3", "chronic partially decrease igg3 in blood", "chronic partially decreased igg3 in blood" ], "HP:0041076": [ "abnormal immunoglobulin level in body fluid" ], "HP:0041077": [ "increase immunoglobulin level in body fluid", "increased immunoglobulin level in body fluid" ], "HP:0041078": [ "decrease immunoglobulin level in body fluid", "decreased immunoglobulin level in body fluid" ], "HP:0041079": [ "decrease body fat percentage", "decreased body fat percentage", "decrease adipose tissue percentage", "decreased adipose tissue percentage" ], "HP:0041080": [ "abnormal proportion of exhausted t cell", "abnormal proportion of exhausted t cells" ], "HP:0041081": [ "fracture low leg", "fractured lower leg", "fracture of the low leg", "fracture of the lower leg", "low extremity fracture", "lower extremity fracture", "low limb fracture", "lower limb fracture" ], "HP:0041082": [ "fracture skull", "fractured skull", "bone skull" ], "HP:0041083": [ "fracture phalanx", "fractured phalanx", "bone phalanx" ], "HP:0041084": [ "compression - fracture thoracic vertebra", "compression - fractured thoracic vertebra", "compression fracture thoracic vertebra", "compression fractured thoracic vertebra", "wedge fracture thoracic vertebra", "wedge fractured thoracic vertebra" ], "HP:0041085": [ "compression - fracture vertebra", "compression - fractured vertebra", "compression fracture vertebra", "compression fractured vertebra", "wedge fracture vertebra", "wedge fractured vertebra" ], "HP:0041086": [ "compression - fractured cervical vertebra", "compression fracture cervical vertebra", "compression fractured cervical vertebra", "wedge fracture cervical vertebra", "wedge fractured cervical vertebra" ], "HP:0041087": [ "compression - fracture lumbar vertebra", "compression - fractured lumbar vertebra", "compression fracture lumbar vertebra", "compression fractured lumbar vertebra", "wedge fracture lumbar vertebra", "wedge fractured lumbar vertebra" ], "HP:0041088": [ "avulsion fracture humerus", "avulsion fractured humerus" ], "HP:0041089": [ "avulsion fracture tibia", "avulsion fractured tibia" ], "HP:0041090": [ "obsolete avulsion fracture pelvic region of trunk", "obsolete avulsion fractured pelvic region of trunk" ], "HP:0041091": [ "avulsion fracture epiphysis of femur", "avulsion fractured epiphysis of femur" ], "HP:0041092": [ "emotional hypersensitivity", "highly sensitive", "hypersensitivity", "overly sensitive" ], "HP:0041093": [ "beau 's line", "beau 's lines", "beau line", "beau lines", "ladder nail", "ladder nail sign" ], "HP:0041094": [ "complete tracheal ring", "complete tracheal ring deformity", "complete tracheal rings" ], "HP:0041114": [ "fractured metaphysis of femur", "bone metaphysis of femur" ], "HP:0041115": [ "fracture right clavicle", "fractured right clavicle", "bone right clavicle" ], "HP:0041116": [ "fracture leave clavicle", "fractured left clavicle", "bone leave clavicle", "bone left clavicle" ], "HP:0041117": [ "fracture low limb segment", "fractured lower limb segment", "bone low limb segment", "bone lower limb segment" ], "HP:0041118": [ "fracture upper limb segment", "fractured upper limb segment", "bone upper limb segment" ], "HP:0041119": [ "fracture metacarpus skeleton", "fractured metacarpus skeleton", "bone metacarpus skeleton" ], "HP:0041121": [ "fractured epiphysis of fifth metacarpal bone", "bone epiphysis of fifth metacarpal bone" ], "HP:0041143": [ "fracture tibia", "fractured tibia", "bone tibia", "break tibia", "broken tibia", "fracture of the tibia", "tibial fracture" ], "HP:0041144": [ "fracture clavicle bone", "fractured clavicle bone", "bone clavicle bone" ], "HP:0041145": [ "fracture acetabular part of hip bone", "fractured acetabular part of hip bone", "bone acetabular part of hip bone" ], "HP:0041146": [ "fracture coccyx", "fractured coccyx", "bone coccyx" ], "HP:0041147": [ "fracture epiphysis", "fractured epiphysis", "bone epiphysis" ], "HP:0041149": [ "fracture navicular bone of pe", "fractured navicular bone of pes", "bone navicular bone of pe", "bone navicular bone of pes" ], "HP:0041150": [ "fracture cuboid bone", "fractured cuboid bone", "bone cuboid bone" ], "HP:0041152": [ "fracture sternoclavicular joint", "fractured sternoclavicular joint", "bone sternoclavicular joint" ], "HP:0041153": [ "fracture ankle", "fractured ankle", "bone ankle joint" ], "HP:0041154": [ "fracture elbow joint", "fractured elbow joint", "bone elbow joint" ], "HP:0041155": [ "fracture mandible", "fractured mandible", "bone mandible" ], "HP:0041156": [ "fractured orbit of skull", "bone orbit of skull" ], "HP:0041157": [ "fracture larynx", "fractured larynx", "bone larynx" ], "HP:0041158": [ "obsolete fracture trunk", "obsolete fractured trunk" ], "HP:0041159": [ "fracture rib", "fractured rib", "bone rib" ], "HP:0041161": [ "obsolete fracture pelvic region of trunk", "obsolete fractured pelvic region of trunk" ], "HP:0041162": [ "fractured foot bone", "bone pe", "bone pes", "broken foot", "fracture pe", "fractured pes", "metatarsal fracture" ], "HP:0041163": [ "fracture manual digit", "fractured manual digit", "bone manual digit" ], "HP:0041164": [ "fracture talus", "fractured talus", "bone talus" ], "HP:0041165": [ "fracture maxilla", "fractured maxilla", "bone maxilla" ], "HP:0041166": [ "fracture vertebra", "fractured vertebra", "bone vertebra" ], "HP:0041167": [ "fractured cervical vertebra", "bone cervical vertebra" ], "HP:0041168": [ "fracture lumbar vertebra", "fractured lumbar vertebra", "bone lumbar vertebra" ], "HP:0041172": [ "fracture fuse sacrum", "fractured fused sacrum", "bone fuse sacrum", "bone fused sacrum" ], "HP:0041173": [ "fracture metacarpophalangeal joint", "fractured metacarpophalangeal joint", "bone metacarpophalangeal joint" ], "HP:0041174": [ "fracture distal phalanx of manus", "fractured distal phalanx of manus", "bone distal phalanx of manus" ], "HP:0041175": [ "fracture middle phalanx of pe", "fractured middle phalanx of pes", "bone middle phalanx of pe", "bone middle phalanx of pes" ], "HP:0041176": [ "fracture distal phalanx of manual digit 2", "fractured distal phalanx of manual digit 2", "bone distal phalanx of manual digit 2" ], "HP:0041177": [ "fracture distal phalanx of manual digit 3", "fractured distal phalanx of manual digit 3", "bone distal phalanx of manual digit 3" ], "HP:0041178": [ "fracture distal phalanx of manual digit 4", "fractured distal phalanx of manual digit 4", "bone distal phalanx of manual digit 4" ], "HP:0041179": [ "fracture distal phalanx of manual digit 5", "fractured distal phalanx of manual digit 5", "bone distal phalanx of manual digit 5" ], "HP:0041180": [ "fracture distal phalanx of pedal digit 1", "fractured distal phalanx of pedal digit 1", "bone distal phalanx of pedal digit 1" ], "HP:0041181": [ "fracture distal phalanx of pedal digit 3", "fractured distal phalanx of pedal digit 3", "bone distal phalanx of pedal digit 3" ], "HP:0041182": [ "fracture middle phalanx of manual digit 2", "fractured middle phalanx of manual digit 2", "bone middle phalanx of manual digit 2" ], "HP:0041183": [ "fracture middle phalanx of manual digit 3", "fractured middle phalanx of manual digit 3", "bone middle phalanx of manual digit 3" ], "HP:0041184": [ "fracture middle phalanx of manual digit 4", "fractured middle phalanx of manual digit 4", "bone middle phalanx of manual digit 4" ], "HP:0041185": [ "fracture middle phalanx of manual digit 5", "fractured middle phalanx of manual digit 5", "bone middle phalanx of manual digit 5" ], "HP:0041186": [ "fracture middle phalanx of pedal digit 3", "fractured middle phalanx of pedal digit 3", "bone middle phalanx of pedal digit 3" ], "HP:0041187": [ "fracture proximal phalanx of pedal digit 1", "fractured proximal phalanx of pedal digit 1", "bone proximal phalanx of pedal digit 1" ], "HP:0041188": [ "fracture proximal phalanx of manual digit 1", "fractured proximal phalanx of manual digit 1", "bone proximal phalanx of manual digit 1" ], "HP:0041189": [ "fractured epiphysis of femur", "bone epiphysis of femur" ], "HP:0041190": [ "fractured epiphysis of second metacarpal bone", "bone epiphysis of second metacarpal bone" ], "HP:0041191": [ "fractured epiphysis of third metacarpal bone", "bone epiphysis of third metacarpal bone" ], "HP:0041192": [ "fractured epiphysis of fourth metacarpal bone", "bone epiphysis of fourth metacarpal bone" ], "HP:0041193": [ "fractured epiphysis of first metatarsal bone", "bone epiphysis of first metatarsal bone" ], "HP:0041194": [ "fractured epiphysis of second metatarsal bone", "bone epiphysis of second metatarsal bone" ], "HP:0041195": [ "fractured epiphysis of third metatarsal bone", "bone epiphysis of third metatarsal bone" ], "HP:0041196": [ "fracture distal epiphysis of radius", "fractured distal epiphysis of radius", "bone distal epiphysis of radius" ], "HP:0041197": [ "fracture proximal epiphysis of first metacarpal bone", "fractured proximal epiphysis of first metacarpal bone", "bone proximal epiphysis of first metacarpal bone" ], "HP:0041198": [ "fracture proximal epiphysis of middle phalanx of manual digit 3", "fractured proximal epiphysis of middle phalanx of manual digit 3", "bone proximal epiphysis of middle phalanx of manual digit 3" ], "HP:0041199": [ "fracture interphalangeal joint", "fractured interphalangeal joint", "bone interphalangeal joint" ], "HP:0041200": [ "fracture sternal end of clavicle", "fractured sternal end of clavicle", "bone sternal end of clavicle" ], "HP:0041209": [ "fractured epiphysis of middle phalanx of manus", "bone epiphysis of middle phalanx of manus" ], "HP:0041210": [ "fractured lateral malleolus of fibula", "bone lateral malleolus of fibula" ], "HP:0041211": [ "fracture proximal phalanx of digit 2", "fractured proximal phalanx of digit 2", "bone proximal phalanx of digit 2" ], "HP:0041212": [ "fracture proximal phalanx of digit 3", "fractured proximal phalanx of digit 3", "bone proximal phalanx of digit 3" ], "HP:0041213": [ "fracture proximal phalanx of digit 4", "fractured proximal phalanx of digit 4", "bone proximal phalanx of digit 4" ], "HP:0041214": [ "fracture proximal phalanx of digit 5", "fractured proximal phalanx of digit 5", "bone proximal phalanx of digit 5" ], "HP:0041215": [ "fracture fuse metatarsal bone 2 - 4", "fractured fused metatarsal bones 2 - 4", "bone fuse metatarsal bone 2 - 4", "bone fused metatarsal bones 2 - 4" ], "HP:0041216": [ "fracture distal epiphysis of distal phalanx of manual digit 1", "fractured distal epiphysis of distal phalanx of manual digit 1", "bone distal epiphysis of distal phalanx of manual digit 1" ], "HP:0041217": [ "fracture shoulder", "fractured shoulder", "bone shoulder joint" ], "HP:0041218": [ "fracture distal phalanx", "fractured distal phalanx", "bone distal phalanx" ], "HP:0041219": [ "fracture elbow", "fractured elbow", "bone elbow" ], "HP:0041220": [ "fracture facial bone", "fractured facial bone", "bone facial bone" ], "HP:0041221": [ "fracture head of femur", "fractured head of femur", "bone head of femur" ], "HP:0041222": [ "fracture fibula", "fractured fibula", "bone fibula", "break fibula", "broken fibula", "fibula fracture", "fracture of the fibula" ], "HP:0041223": [ "fracture metatarsal bone of digit 5", "fractured metatarsal bone of digit 5", "bone metatarsal bone of digit 5" ], "HP:0041224": [ "fracture manual digit bone", "fractured manual digit bone", "bone manual digit bone" ], "HP:0041225": [ "fracture metacarpal bone of digit 1", "fractured metacarpal bone of digit 1", "bone metacarpal bone of digit 1" ], "HP:0041226": [ "fracture distal tarsal bone", "fractured distal tarsal bone", "bone distal tarsal bone" ], "HP:0041227": [ "fracture distal tarsal bone 2", "fractured distal tarsal bone 2", "bone distal tarsal bone 2" ], "HP:0041228": [ "fracture distal tarsal bone 3", "fractured distal tarsal bone 3", "bone distal tarsal bone 3" ], "HP:0041230": [ "fracture metatarsal bone of digit 4", "fractured metatarsal bone of digit 4", "bone metatarsal bone of digit 4" ], "HP:0041231": [ "fracture metatarsal bone of digit 1", "fractured metatarsal bone of digit 1", "bone metatarsal bone of digit 1" ], "HP:0041232": [ "fracture skeleton of manual acropodium", "fractured skeleton of manual acropodium", "bone skeleton of manual acropodium" ], "HP:0041233": [ "fractured ilium", "bone ilium" ], "HP:0041234": [ "fracture bone of jaw", "fractured bone of jaw", "bone bone of jaw" ], "HP:0041235": [ "fracture hindlimb bone", "fractured hindlimb bone", "bone hindlimb bone" ], "HP:0041236": [ "fracture middle phalanx of manus", "fractured middle phalanx of manus", "bone middle phalanx of manus" ], "HP:0041237": [ "fracture patella", "fractured patella", "bone patella" ], "HP:0041239": [ "fracture manual digit 1 phalanx", "fractured manual digit 1 phalanx", "bone manual digit 1 phalanx" ], "HP:0041240": [ "fracture phalanx of pe", "fractured phalanx of pes", "bone phalanx of pe", "bone phalanx of pes" ], "HP:0041241": [ "fracture phalanx of manus", "fractured phalanx of manus", "bone phalanx of manus" ], "HP:0041243": [ "fracture proximal phalanx of manus", "fractured proximal phalanx of manus", "bone proximal phalanx of manus" ], "HP:0041244": [ "fracture scapula", "fractured scapula", "bone scapula" ], "HP:0041245": [ "fracture shoulder bone", "fractured shoulder bone", "bone shoulder bone" ], "HP:0041246": [ "fracture sternum", "fractured sternum", "bone sternum" ], "HP:0041247": [ "fracture tarsal bone", "fractured tarsal bone", "bone tarsal bone" ], "HP:0041248": [ "fracture carpal bone", "fractured carpal bone", "bone carpal bone", "broken wrist", "carpal bone fracture", "fracture wrist", "fractured wrist", "wrist fracture" ], "HP:0041249": [ "fracture nose", "fractured nose", "bone nose" ], "HP:0045001": [ "abnormal ossification of the trapezium" ], "HP:0045002": [ "absent ossification of the trapezium" ], "HP:0045003": [ "abnormal ossification of the scaphoid" ], "HP:0045004": [ "abnormal ossification of the trapezoid bone" ], "HP:0045005": [ "neural tube defect", "abnormality of neural tube closure" ], "HP:0045006": [ "aplasia of lymphatic vessel", "aplasia of lymphatic vessels", "absent lymphatic vessel", "absent lymphatic vessels" ], "HP:0045007": [ "abnormal substantia nigra morphology", "abnormality of the substantia nigra" ], "HP:0045008": [ "abnormal shape of the radius" ], "HP:0045009": [ "abnormal morphology of the radius" ], "HP:0045010": [ "abnormality of peripheral nerve", "abnormality of peripheral nerves" ], "HP:0045011": [ "decrease urine bicarbonate concentration", "decreased urine bicarbonate concentration", "decrease urine hco3 concentration", "decreased urine hco3 concentration" ], "HP:0045012": [ "decrease urinary catecholamine concentration", "decreased urinary catecholamine concentration" ], "HP:0045013": [ "obsolete decrease urinary glucose concentration", "obsolete decreased urinary glucose concentration" ], "HP:0045014": [ "hypolipidemia" ], "HP:0045017": [ "congenital malformation of the left heart" ], "HP:0045018": [ "partial duplication of eyebrow", "partial duplication of eyebrows", "partial double eyebrow" ], "HP:0045025": [ "narrow palpebral fissure", "decreased size of palpebral fissure", "narrow eyelid opening", "narrow palpebral fissures", "small opening between the eyelid", "small opening between the eyelids", "small palpebral fissure", "small palpebral fissures" ], "HP:0045026": [ "abnormality of the mediastinum" ], "HP:0100722": [ "abnormality of the mediastinum" ], "HP:0045027": [ "abnormality of the thoracic cavity" ], "HP:0045028": [ "microlissencephaly", "lissencephaly type iii", "type 3 lissencephaly", "type iii lissencephaly" ], "HP:0045029": [ "eosinophilic fasciitis" ], "HP:0045034": [ "elevate urinary aminoisobutyric acid", "elevated urinary aminoisobutyric acid" ], "HP:0045035": [ "decrease urinary copper concentration", "decreased urinary copper concentration" ], "HP:0045036": [ "abnormal urinary copper concentration" ], "HP:0045037": [ "abnormality of jaw muscle", "abnormality of jaw muscles" ], "HP:0045038": [ "gastric lymphoma", "primary gastric lymphoma" ], "HP:0045039": [ "osteolysis involve bone of the upper limb", "osteolysis involving bones of the upper limbs" ], "HP:0045040": [ "abnormal lactate dehydrogenase level" ], "HP:0045041": [ "reduce lactate dehydrogenase b level", "reduced lactate dehydrogenase b level" ], "HP:0045042": [ "decrease serum complement c4", "decreased serum complement c4", "decrease serum complement c4 level", "decreased serum complement c4 level" ], "HP:0045043": [ "decrease serum complement c4a", "decreased serum complement c4a", "c4a deficiency", "complement component 4a deficiency" ], "HP:0045044": [ "decrease serum complement c4b", "decreased serum complement c4b", "c4b deficiency", "complement component 4b deficiency" ], "HP:0045045": [ "elevate circulate acylcarnitine concentration", "elevated circulating acylcarnitine concentration", "elevate plasma acylcarnitine level", "elevated plasma acylcarnitine levels" ], "HP:0045046": [ "reduced insulin like growth factor bind protein acid labile subunit level", "reduced insulin like growth factor binding protein acid labile subunit level", "acid - labile subunit deficiency", "decreased level of acid labile subunit", "decreased levels of acid labile subunit" ], "HP:0045047": [ "hb hemoglobin", "hbs hemoglobin", "hb haemoglobin", "hbs haemoglobin" ], "HP:0045048": [ "increase hba2 hemoglobin", "increased hba2 hemoglobin", "increase haemoglobin a2", "increased haemoglobin a2", "increase hba2 haemoglobin", "increased hba2 haemoglobin", "increase hemoglobin a2", "increased hemoglobin a2" ], "HP:0045049": [ "abnormal dlco", "abnormal diffusing capacity", "abnormal tlco", "abnormal transfer factor of the lung for carbon monoxide" ], "HP:0045050": [ "increase dlco", "increased dlco", "increase diffusing capacity", "increased diffusing capacity" ], "HP:0045051": [ "decrease dlco", "decreased dlco", "decrease diffusing capacity", "decreased diffusing capacity" ], "HP:0045052": [ "abnormality of the brachial nerve plexus" ], "HP:0045053": [ "abnormality of the lumbosacral nerve plexus" ], "HP:0045054": [ "brachial plexus neuropathy" ], "HP:0045055": [ "obsolete tiger - tail banding", "tiger tail banding", "tiger - tail banding" ], "HP:0045056": [ "abnormal level of alpha - fetoprotein", "abnormal levels of alpha - fetoprotein" ], "HP:0045057": [ "decreased level of alpha - fetoprotein", "decreased levels of alpha - fetoprotein" ], "HP:0045058": [ "abnormality of the testis size" ], "HP:0045059": [ "hyperkeratotic papule" ], "HP:0045060": [ "aplasia / hypoplasia involve bone of the extremity", "aplasia / hypoplasia involving bones of the extremities" ], "HP:0045061": [ "decrease carnitine level in liver", "decreased carnitine level in liver" ], "HP:0045063": [ "increase pivka - ii", "increased pivka - ii", "increase prothrombin induce by vitamin k absence - ii", "increased prothrombin induced by vitamin k absence - ii" ], "HP:0045073": [ "serositis" ], "HP:0045074": [ "thin eyebrow", "thin eyebrows" ], "HP:0045075": [ "sparse eyebrow", "hypotrichosis of eyebrow", "sparse eyebrows" ], "HP:0045079": [ "distal femoral metaphyseal irregularity", "irregular distal femoral metaphyses" ], "HP:0045080": [ "decreased proportion of cd3 - positive t cell", "decreased proportion of cd3 - positive t cells", "decreased proportion of cd3+ t cell", "decreased proportion of cd3+ t cells" ], "HP:0045072": [ "decreased proportion of cd3 - positive t cell", "decreased proportion of cd3 - positive t cells", "decreased proportion of cd3+ t cell", "decreased proportion of cd3+ t cells" ], "HP:0045081": [ "abnormality of body mass index", "abnormal bmi", "abnormal body mass index" ], "HP:0045082": [ "decrease body mass index", "decreased body mass index", "decrease bmi", "decreased bmi" ], "HP:0045084": [ "limb myoclonus", "myoclonus of limb", "myoclonus of limbs" ], "HP:0045085": [ "atrophy of masseter muscle", "atrophy masseter muscle", "atrophied masseter muscle", "masseter muscle atrophy" ], "HP:0045086": [ "knee joint hypermobility", "knee joint over - flexibility" ], "HP:0045087": [ "hip joint hypermobility" ], "HP:0045088": [ "clinical relevance" ], "HP:0045089": [ "distinctive finding" ], "HP:0045090": [ "minor finding" ], "HP:0046502": [ "anorgasmia" ], "HP:0046503": [ "increase libido", "increased libido" ], "HP:0046504": [ "decrease libido", "decreased libido" ], "HP:0046505": [ "hand pain" ], "HP:0046506": [ "pain in head and neck region" ], "HP:0046507": [ "bradypnea" ], "HP:0046508": [ "abnormal cervical spine morphology" ], "HP:0100000": [ "early onset of sexual maturation" ], "HP:0100001": [ "malignant mesothelioma" ], "HP:0100002": [ "pleural mesothelioma" ], "HP:0100003": [ "peritoneal mesothelioma" ], "HP:0100004": [ "pericardial mesothelioma" ], "HP:0100005": [ "testicular mesothelioma" ], "HP:0100006": [ "neoplasm of the central nervous system", "neoplasia of the central nervous system", "neoplasm of the cns", "tumor of the central nervous system", "tumors of the central nervous system", "tumour of the central nervous system", "tumours of the central nervous system" ], "HP:0100007": [ "neoplasm of the peripheral nervous system", "tumor of the peripheral nervous system", "tumour of the peripheral nervous system" ], "HP:0100008": [ "schwannoma", "neurilemmoma", "neurinoma", "neurolemmoma", "schwann cell tumor", "schwann cell tumour", "schwannomas" ], "HP:0100009": [ "intracranial meningioma" ], "HP:0100010": [ "spinal meningioma" ], "HP:0100011": [ "scleral schwannoma" ], "HP:0100012": [ "neoplasm of the eye", "eye tumor", "eye tumour", "neoplasia of the eye" ], "HP:0100013": [ "neoplasm of the breast", "breast tumor", "breast tumour", "neoplasia of the breast", "tumour of the breast", "tumours of the breast" ], "HP:0010623": [ "neoplasm of the breast", "breast tumor", "breast tumour", "neoplasia of the breast", "tumour of the breast", "tumours of the breast" ], "HP:0100014": [ "epiretinal membrane", "epiretinal membranes", "macular pucker", "premacular fibrosis" ], "HP:0100015": [ "stahl ear", "additional crus", "third crus" ], "HP:0100016": [ "abnormality of mesentery morphology", "abnormality of the mesentery" ], "HP:0100017": [ "capsular cataract" ], "HP:0100018": [ "obsolete congenital nuclear cataract", "nuclear cataract", "yellowish cloudy center of lens", "yellowish cloudy centre of lens" ], "HP:0007672": [ "nuclear cataract", "yellowish cloudy center of lens", "yellowish cloudy centre of lens" ], "HP:0007781": [ "nuclear cataract", "yellowish cloudy center of lens", "yellowish cloudy centre of lens" ], "HP:0100019": [ "obsolete juvenile cortical cataract", "cortical cataract" ], "HP:0100020": [ "posterior capsular cataract" ], "HP:0100021": [ "cerebral palsy", "cerebral paralysis" ], "HP:0100022": [ "abnormality of movement", "movement disorder", "unusual movement" ], "HP:0001294": [ "abnormality of movement", "movement disorder", "unusual movement" ], "HP:0100023": [ "recurrent hand flap", "recurrent hand flapping" ], "HP:0100024": [ "conspicuously happy disposition", "conspicious happy aspect", "happy aspect" ], "HP:0100025": [ "overfriendliness" ], "HP:0100026": [ "arteriovenous malformation" ], "HP:0100027": [ "recurrent pancreatitis", "recur pancreas inflammation", "recurring pancreas inflammation", "recur pancreatitis", "recurring pancreatitis" ], "HP:0100028": [ "ectopic thyroid", "aberrant thyroid", "aberrant thyroid gland", "abnormal thryoid location", "ectopic thyroid gland", "heteropic thyroid gland" ], "HP:0100029": [ "lingual thyroid" ], "HP:0100030": [ "accessory ectopic thyroid tissue" ], "HP:0100031": [ "neoplasm of the thyroid gland", "neoplasia of the thyroid gland" ], "HP:0100033": [ "tic", "tics", "tic disorder" ], "HP:0100034": [ "motor tic", "motor tics" ], "HP:0100035": [ "phonic tic", "phonic tics", "verbal tic", "verbal tics", "vocal tic", "vocal tics" ], "HP:0100036": [ "pseudo - fracture", "pseudo - fractures", "looser zone", "looser zones" ], "HP:0100037": [ "abnormality of the scalp hair" ], "HP:0100038": [ "slow - grow scalp hair", "slow - growing scalp hair" ], "HP:0004553": [ "slow - grow scalp hair", "slow - growing scalp hair" ], "HP:0100039": [ "thicken cortex of bone", "thickened cortex of bones" ], "HP:0100040": [ "broad 2nd toe", "wide 2nd toe" ], "HP:0100041": [ "broad 3rd toe", "wide 3rd toe" ], "HP:0100042": [ "broad 4th toe", "wide 4th toe" ], "HP:0100043": [ "broad 5th toe", "broad little toe", "broad pinkie toe", "broad pinky toe" ], "HP:0100044": [ "absent epiphysis of the 2nd toe", "absent epiphyses of the 2nd toe", "absent end part of the 2nd toe bone" ], "HP:0100045": [ "bracket epiphysis of the 2nd toe", "bracket epiphyses of the 2nd toe", "bracket shape end part of 2nd toe bone", "bracket shaped end part of 2nd toe bone" ], "HP:0100046": [ "cone - shaped epiphysis of the 2nd toe", "cone - shaped epiphyses of the 2nd toe", "cone - shaped end part of the 2nd toe bone" ], "HP:0100047": [ "enlarged epiphysis of the 2nd toe", "enlarged epiphyses of the 2nd toe", "enlarged end part of the 2nd toe bone" ], "HP:0100048": [ "fragmentation of the epiphysis of the 2nd toe", "fragmentation of the epiphyses of the 2nd toe", "fragmentation of the end part of the 2nd toe bone" ], "HP:0100049": [ "irregular epiphysis of the 2nd toe", "irregular epiphyses of the 2nd toe", "irregular end part of the 2nd toe bone" ], "HP:0100050": [ "ivory epiphysis of the 2nd toe", "ivory epiphyses of the 2nd toe", "increase bone density of end part of the 2nd toe", "increased bone density of end part of the 2nd toe" ], "HP:0100051": [ "pseudoepiphyses of the 2nd toe" ], "HP:0100052": [ "small epiphysis of the 2nd toe", "small epiphyses of the 2nd toe", "small end part of the 2nd toe bone" ], "HP:0100053": [ "stippling of the epiphysis of the 2nd toe", "stippling of the epiphyses of the 2nd toe", "speckled calcification in the end part of the 2nd toe bone", "speckled calcifications in the end part of the 2nd toe bone" ], "HP:0100054": [ "triangular epiphysis of the 2nd toe", "triangular epiphyses of the 2nd toe", "triangular end part of the 2nd toe bone" ], "HP:0100055": [ "absent epiphysis of the 3rd toe", "absent epiphyses of the 3rd toe", "absent end part of the 3rd toe" ], "HP:0100056": [ "bracket epiphysis of the 3rd toe", "bracket epiphyses of the 3rd toe", "bracket shape end part of 3rd toe bone", "bracket shaped end part of 3rd toe bone" ], "HP:0100057": [ "cone - shaped epiphysis of the 3rd toe", "cone - shaped epiphyses of the 3rd toe", "cone - shaped end part of the 3rd toe bone" ], "HP:0100058": [ "enlarged epiphysis of the 3rd toe", "enlarged epiphyses of the 3rd toe", "enlarged end part of the 3rd toe bone" ], "HP:0100059": [ "fragmentation of the epiphysis of the 3rd toe", "fragmentation of the epiphyses of the 3rd toe", "fragmentation of the end part of the 3rd toe bone" ], "HP:0100060": [ "irregular epiphysis of the 3rd toe", "irregular epiphyses of the 3rd toe", "irregular end part of the 3rd toe bone" ], "HP:0100061": [ "ivory epiphysis of the 3rd toe", "ivory epiphyses of the 3rd toe", "increase bone density of end part of the 3rd toe bone", "increased bone density of end part of the 3rd toe bone" ], "HP:0100062": [ "pseudoepiphyses of the 3rd toe" ], "HP:0100063": [ "small epiphysis of the 3rd toe", "small epiphyses of the 3rd toe", "small end part of the 3rd toe bone" ], "HP:0100064": [ "stippling of the epiphysis of the 3rd toe", "stippling of the epiphyses of the 3rd toe", "speckled calcification in the end part of the 3rd toe bone", "speckled calcifications in the end part of the 3rd toe bone" ], "HP:0100065": [ "triangular epiphysis of the 3rd toe", "triangular epiphyses of the 3rd toe", "triangular end part of the 3rd toe bone" ], "HP:0100066": [ "absent epiphysis of the 4th toe", "absent epiphyses of the 4th toe", "absent end part of the 4th toe bone" ], "HP:0100067": [ "bracket epiphysis of the 4th toe", "bracket epiphyses of the 4th toe", "bracket shape end part of 4th toe bone", "bracket shaped end part of 4th toe bone" ], "HP:0100068": [ "cone - shaped epiphysis of the 4th toe", "cone - shaped epiphyses of the 4th toe", "cone - shaped end part of the 4th toe bone" ], "HP:0100069": [ "enlarged epiphysis of the 4th toe", "enlarged epiphyses of the 4th toe", "enlarged end part of the 4th toe bone" ], "HP:0100070": [ "fragmentation of the epiphysis of the 4th toe", "fragmentation of the epiphyses of the 4th toe", "fragmentation of the end part of the 4th toe bone" ], "HP:0100071": [ "irregular epiphysis of the 4th toe", "irregular epiphyses of the 4th toe", "irregular end part of the 4th toe bone" ], "HP:0100072": [ "ivory epiphysis of the 4th toe", "ivory epiphyses of the 4th toe", "increase bone density of end part of the 4th toe bone", "increased bone density of end part of the 4th toe bone" ], "HP:0100073": [ "pseudoepiphyses of the 4th toe" ], "HP:0100074": [ "small epiphysis of the 4th toe", "small epiphyses of the 4th toe", "small end part of the 4th toe bone" ], "HP:0100075": [ "stippling of the epiphysis of the 4th toe", "stippling of the epiphyses of the 4th toe", "speckled calcification in the end part of the 4th toe bone", "speckled calcifications in the end part of the 4th toe bone" ], "HP:0100076": [ "triangular epiphysis of the 4th toe", "triangular epiphyses of the 4th toe", "triangular end part of the 4th toe bone" ], "HP:0100077": [ "absent epiphysis of the 5th toe", "absent epiphyses of the 5th toe", "absent end part of the little toe bone", "absent end part of the pinkie toe bone", "absent end part of the pinky toe bone" ], "HP:0100078": [ "bracket epiphysis of the 5th toe", "bracket epiphyses of the 5th toe", "bracket shape end part of little toe bone", "bracket shaped end part of little toe bone", "bracket shape end part of pinkie toe bone", "bracket shaped end part of pinkie toe bone", "bracket shape end part of pinky toe bone", "bracket shaped end part of pinky toe bone" ], "HP:0100079": [ "cone - shaped epiphysis of the 5th toe", "cone - shaped epiphyses of the 5th toe", "cone - shaped end part of the little toe bone", "cone - shaped end part of the pinkie toe bone", "cone - shaped end part of the pinky toe bone" ], "HP:0100080": [ "enlarged epiphysis of the 5th toe", "enlarged epiphyses of the 5th toe", "enlarged end part of the little toe bone", "enlarged end part of the pinkie toe bone", "enlarged end part of the pinky toe bone" ], "HP:0100081": [ "fragmentation of the epiphysis of the 5th toe", "fragmentation of the epiphyses of the 5th toe", "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 pinky toe bone" ], "HP:0100082": [ "irregular epiphysis of the 5th toe", "irregular epiphyses of the 5th toe", "irregular end part of the little toe bone", "irregular end part of the pinkie toe bone", "irregular end part of the pinky toe bone" ], "HP:0100083": [ "ivory epiphysis of the 5th toe", "ivory epiphyses of the 5th toe", "increase bone density of end part of the little toe bone", "increased bone density of end part of the little toe bone", "increase bone density of end part of the pinkie toe bone", "increased bone density of end part of the pinkie toe bone", "increase bone density of end part of the pinky toe bone", "increased bone density of end part of the pinky toe bone" ], "HP:0100084": [ "pseudoepiphyses of the 5th toe" ], "HP:0100085": [ "small epiphysis of the 5th toe", "small epiphyses of the 5th toe", "small end part of the little toe bone", "small end part of the pinkie toe bone", "small end part of the pinky toe bone" ], "HP:0100086": [ "stippling of the epiphysis of the 5th toe", "stippling of the epiphyses of the 5th toe", "speckled calcification in the end part of the little toe bone", "speckled calcifications in the end part of the little toe bone", "speckled calcification in the end part of the pinkie toe bone", "speckled calcifications in the end part of the pinkie toe bone", "speckled calcification in the end part of the pinky toe bone", "speckled calcifications in the end part of the pinky toe bone" ], "HP:0100087": [ "triangular epiphysis of the 5th toe", "triangular epiphyses of the 5th toe", "triangular end part of the little toe bone", "triangular end part of the pinkie toe bone", "triangular end part of the pinky toe bone" ], "HP:0100088": [ "abnormality of the epiphysis of the distal phalanx of the 2nd toe", "abnormality of the end part of the outermost bone of the 2nd toe" ], "HP:0100089": [ "abnormality of the epiphysis of the middle phalanx of the 2nd toe", "abnormality of the end part of the middle bone of the 2nd toe" ], "HP:0100090": [ "abnormality of the epiphysis of the proximal phalanx of the 2nd toe", "abnormality of the end part of the innermost bone of the 2nd toe" ], "HP:0100091": [ "abnormality of the epiphysis of the distal phalanx of the 3rd toe", "abnormality of the end part of the outermost bone of the 3rd toe" ], "HP:0100092": [ "abnormality of the epiphysis of the middle phalanx of the 3rd toe", "abnormality of the end part of the middle bone of the 3rd toe" ], "HP:0100093": [ "abnormality of the epiphysis of the proximal phalanx of the 3rd toe", "abnormality of the end part of the innermost bone of the 3rd toe" ], "HP:0100094": [ "abnormality of the epiphysis of the distal phalanx of the 4th toe", "abnormality of the end part of the outermost bone of the 4th toe" ], "HP:0100095": [ "abnormality of the epiphysis of the middle phalanx of the 4th toe", "abnormality of the end part of the middle bone of the 4th toe" ], "HP:0100096": [ "abnormality of the epiphysis of the proximal phalanx of the 4th toe", "abnormality of the end part of the innermost bone of the 4th toe" ], "HP:0100097": [ "abnormality of the epiphysis of the distal phalanx of the 5th toe", "abnormality of the end part of the outermost bone of the little toe", "abnormality of the end part of the outermost bone of the pinkie toe", "abnormality of the end part of the outermost bone of the pinky toe" ], "HP:0100098": [ "abnormality of the epiphysis of the middle phalanx of the 5th toe", "abnormality of the end part of the middle bone of the little toe", "abnormality of the end part of the middle bone of the pinkie toe", "abnormality of the end part of the middle bone of the pinky toe" ], "HP:0100099": [ "abnormality of the epiphysis of the proximal phalanx of the 5th toe", "abnormality of the end part of the innermost bone of the little toe", "abnormality of the end part of the innermost bone of the pinkie toe", "abnormality of the end part of the innermost bone of the pinky toe" ], "HP:0100100": [ "absent epiphysis of the distal phalanx of the 2nd toe", "absent end part of the outermost bone of the 2nd toe" ], "HP:0100101": [ "bracket epiphysis of the distal phalanx of the 2nd toe", "bracket shape end part of the outermost bone of the 2nd toe", "bracket shaped end part of the outermost bone of the 2nd toe" ], "HP:0100102": [ "cone - shaped epiphysis of the distal phalanx of the 2nd toe", "cone - shaped end part of the outermost bone of the 2nd toe" ], "HP:0100103": [ "enlarged epiphysis of the distal phalanx of the 2nd toe", "enlarged end part of the outermost bone of the 2nd toe" ], "HP:0100104": [ "fragmentation of the epiphysis of the distal phalanx of the 2nd toe", "fragmentation of the end part of the outermost bone of the 2nd toe" ], "HP:0100105": [ "irregular epiphysis of the distal phalanx of the 2nd toe", "irregular end part of the outermost bone of the 2nd toe" ], "HP:0100106": [ "ivory epiphysis of the distal phalanx of the 2nd toe", "increase bone density of end part of the outermost bone of the 2nd toe", "increased bone density of end part of the outermost bone of the 2nd toe" ], "HP:0100107": [ "pseudoepiphysis of the distal phalanx of the 2nd toe" ], "HP:0100108": [ "small epiphysis of the distal phalanx of the 2nd toe", "small end part of the outermost bone of the 2nd toe" ], "HP:0100109": [ "stippling of the epiphysis of the distal phalanx of the 2nd toe", "speckled calcification in the end part of the outermost bone of the 2nd toe", "speckled calcifications in the end part of the outermost bone of the 2nd toe" ], "HP:0100110": [ "triangular epiphysis of the distal phalanx of the 2nd toe", "triangular end part of the outermost bone of the 2nd toe" ], "HP:0100111": [ "absent epiphysis of the middle phalanx of the 2nd toe", "absent end part of the middle bone of the 2nd toe" ], "HP:0100112": [ "bracket epiphysis of the middle phalanx of the 2nd toe", "bracket shape end part of the middle bone of the 2nd toe", "bracket shaped end part of the middle bone of the 2nd toe" ], "HP:0100113": [ "cone - shaped epiphysis of the middle phalanx of the 2nd toe", "cone - shaped end part of the middle bone of the 2nd toe" ], "HP:0100114": [ "enlarged epiphysis of the middle phalanx of the 2nd toe", "enlarged end part of the middle bone of the 2nd toe" ], "HP:0100115": [ "fragmentation of the epiphysis of the middle phalanx of the 2nd toe", "fragmentation of the end part of the middle bone of the 2nd toe" ], "HP:0100116": [ "irregular epiphysis of the middle phalanx of the 2nd toe", "irregular end part of the middle bone of the 2nd toe" ], "HP:0100117": [ "ivory epiphysis of the middle phalanx of the 2nd toe", "increase bone density of end part of the middle bone of the 2nd toe", "increased bone density of end part of the middle bone of the 2nd toe" ], "HP:0100118": [ "pseudoepiphysis of the middle phalanx of the 2nd toe" ], "HP:0100119": [ "small epiphysis of the middle phalanx of the 2nd toe", "small end part of the middle bone of the 2nd toe" ], "HP:0100120": [ "stippling of the epiphysis of the middle phalanx of the 2nd toe", "speckled calcification in of the end part of the middle bone of the 2nd toe", "speckled calcifications in of the end part of the middle bone of the 2nd toe" ], "HP:0100121": [ "triangular epiphysis of the middle phalanx of the 2nd toe", "triangular end part of the middle bone of the 2nd toe" ], "HP:0100122": [ "absent epiphysis of the proximal phalanx of the 2nd toe", "absent end part of the innermost bone of the 2nd toe" ], "HP:0100123": [ "bracket epiphysis of the proximal phalanx of the 2nd toe", "bracket shape end part of the innermost bone of the 2nd toe", "bracket shaped end part of the innermost bone of the 2nd toe" ], "HP:0100124": [ "cone - shaped epiphysis of the proximal phalanx of the 2nd toe", "cone - shaped end part of the innermost bone of the 2nd toe" ], "HP:0100125": [ "enlarged epiphysis of the proximal phalanx of the 2nd toe", "enlarged end part of the innermost bone of the 2nd toe" ], "HP:0100126": [ "fragmentation of the epiphysis of the proximal phalanx of the 2nd toe", "fragmentation of the end part of the innermost bone of the 2nd toe" ], "HP:0100127": [ "irregular epiphysis of the proximal phalanx of the 2nd toe", "irregular end part of the innermost bone of the 2nd toe" ], "HP:0100128": [ "ivory epiphysis of the proximal phalanx of the 2nd toe", "increase bone density of end part of the innermost bone of the 2nd toe", "increased bone density of end part of the innermost bone of the 2nd toe" ], "HP:0100129": [ "pseudoepiphysis of the proximal phalanx of the 2nd toe" ], "HP:0100130": [ "small epiphysis of the proximal phalanx of the 2nd toe", "small end part of the innermost bone of the 2nd toe" ], "HP:0100131": [ "stippling of the epiphysis of the proximal phalanx of the 2nd toe", "speckled calcification in the end part of the innermost bone of the 2nd toe", "speckled calcifications in the end part of the innermost bone of the 2nd toe" ], "HP:0100132": [ "triangular epiphysis of the proximal phalanx of the 2nd toe", "triangular end part of the innermost bone of the 2nd toe" ], "HP:0100133": [ "abnormality of the pubic hair" ], "HP:0100134": [ "abnormality of the axillary hair" ], "HP:0100135": [ "absent epiphysis of the distal phalanx of the 3rd toe", "absent end part of the outermost bone of the 3rd toe" ], "HP:0100136": [ "bracket epiphysis of the distal phalanx of the 3rd toe", "bracket shape end part of the outermost bone of the 3rd toe", "bracket shaped end part of the outermost bone of the 3rd toe" ], "HP:0100137": [ "cone - shaped epiphysis of the distal phalanx of the 3rd toe", "cone - shaped end part of the outermost bone of the 3rd toe" ], "HP:0100138": [ "enlarged epiphysis of the distal phalanx of the 3rd toe", "enlarged end part of the outermost bone of the 3rd toe" ], "HP:0100139": [ "fragmentation of the epiphysis of the distal phalanx of the 3rd toe", "fragmentation of the end part of the outermost bone of the 3rd toe" ], "HP:0100140": [ "irregular epiphysis of the distal phalanx of the 3rd toe", "irregular end part of the outermost bone of the 3rd toe" ], "HP:0100141": [ "ivory epiphysis of the distal phalanx of the 3rd toe", "increase bone density of end part of the outermost bone of the 3rd toe", "increased bone density of end part of the outermost bone of the 3rd toe" ], "HP:0100142": [ "pseudoepiphysis of the distal phalanx of the 3rd toe" ], "HP:0100143": [ "small epiphysis of the distal phalanx of the 3rd toe", "small end part of the outermost bone of the 3rd toe" ], "HP:0100144": [ "stippling of the epiphysis of the distal phalanx of the 3rd toe", "speckled calcification in the end part of the outermost bone of the 3rd toe", "speckled calcifications in the end part of the outermost bone of the 3rd toe" ], "HP:0100145": [ "triangular epiphysis of the distal phalanx of the 3rd toe", "triangular end part of the outermost bone of the 3rd toe" ], "HP:0100146": [ "absent epiphysis of the middle phalanx of the 3rd toe", "absent end part of the middle bone of the 3rd toe" ], "HP:0100147": [ "bracket epiphysis of the middle phalanx of the 3rd toe", "bracket shape end part of the middle bone of 3rd toe", "bracket shaped end part of the middle bone of 3rd toe" ], "HP:0100148": [ "cone - shaped epiphysis of the middle phalanx of the 3rd toe", "cone - shaped end part of the middle bone of the 3rd toe" ], "HP:0100149": [ "enlarged epiphysis of the middle phalanx of the 3rd toe", "enlarged end part of the middle bone of the 3rd toe" ], "HP:0100150": [ "fragmentation of the epiphysis of the middle phalanx of the 3rd toe", "fragmentation of the end part of the middle bone of the 3rd toe" ], "HP:0100151": [ "irregular epiphysis of the middle phalanx of the 3rd toe", "irregular end part of the middle bone of the 3rd toe" ], "HP:0100152": [ "ivory epiphysis of the middle phalanx of the 3rd toe", "increase bone density of end part of the middle bone of the 3rd toe", "increased bone density of end part of the middle bone of the 3rd toe" ], "HP:0100153": [ "pseudoepiphysis of the middle phalanx of the 3rd toe" ], "HP:0100154": [ "small epiphysis of the middle phalanx of the 3rd toe", "small end part of the middle bone of the 3rd toe" ], "HP:0100155": [ "stippling of the epiphysis of the middle phalanx of the 3rd toe", "speckled calcification in the end part of the middle bone of the 3rd toe", "speckled calcifications in the end part of the middle bone of the 3rd toe" ], "HP:0100156": [ "triangular epiphysis of the middle phalanx of the 3rd toe", "triangular end part of the middle bone of the 3rd toe" ], "HP:0100157": [ "absent epiphysis of the proximal phalanx of the 3rd toe", "absent end part of the innermost bone of the 3rd toe" ], "HP:0100158": [ "bracket epiphysis of the proximal phalanx of the 3rd toe", "bracket shape end part of the innermost bone of 3rd toe", "bracket shaped end part of the innermost bone of 3rd toe" ], "HP:0100159": [ "cone - shaped epiphysis of the proximal phalanx of the 3rd toe", "cone - shaped end part of the innermost bone of the 3rd toe" ], "HP:0100160": [ "enlarged epiphysis of the proximal phalanx of the 3rd toe", "enlarged end part of the innermost bone of the 3rd toe" ], "HP:0100161": [ "fragmentation of the epiphysis of the proximal phalanx of the 3rd toe", "fragmentation of the end part of the innermost bone of the 3rd toe" ], "HP:0100162": [ "irregular epiphysis of the proximal phalanx of the 3rd toe", "irregular end part of the innermost bone of the 3rd toe" ], "HP:0100163": [ "ivory epiphysis of the proximal phalanx of the 3rd toe", "increase bone density of end part of the innermost bone of the 3rd toe", "increased bone density of end part of the innermost bone of the 3rd toe" ], "HP:0100164": [ "pseudoepiphysis of the proximal phalanx of the 3rd toe" ], "HP:0100165": [ "small epiphysis of the proximal phalanx of the 3rd toe", "small end part of the innermost bone of the 3rd toe" ], "HP:0100166": [ "stippling of the epiphysis of the proximal phalanx of the 3rd toe", "speckled calcification in of the end part of the innermost bone of the 3rd toe", "speckled calcifications in of the end part of the innermost bone of the 3rd toe" ], "HP:0100167": [ "triangular epiphysis of the proximal phalanx of the 3rd toe", "triangular end part of the innermost bone of the 3rd toe" ], "HP:0100168": [ "fragment epiphysis", "fragmented epiphyses", "fragmented end part of bone" ], "HP:0100169": [ "absent epiphysis of the distal phalanx of the 4th toe", "absent end part of the outermost bone of the 4th toe" ], "HP:0100170": [ "bracket epiphysis of the distal phalanx of the 4th toe", "bracket shape end part of the outermost bone of the 4th toe", "bracket shaped end part of the outermost bone of the 4th toe" ], "HP:0100171": [ "cone - shaped epiphysis of the distal phalanx of the 4th toe", "cone - shaped end part of the outermost bone of the 4th toe" ], "HP:0100172": [ "enlarged epiphysis of the distal phalanx of the 4th toe", "enlarged end part of the outermost bone of the 4th toe" ], "HP:0100173": [ "fragmentation of the epiphysis of the distal phalanx of the 4th toe", "fragmentation of the end part of the outermost bone of the 4th toe" ], "HP:0100174": [ "irregular epiphysis of the distal phalanx of the 4th toe", "irregular end part of the outermost bone of the 4th toe" ], "HP:0100175": [ "ivory epiphysis of the distal phalanx of the 4th toe", "increase bone density of end part of the outermost bone of the 4th toe", "increased bone density of end part of the outermost bone of the 4th toe" ], "HP:0100176": [ "pseudoepiphysis of the distal phalanx of the 4th toe" ], "HP:0100177": [ "small epiphysis of the distal phalanx of the 4th toe", "small end part of the outermost bone of the 4th toe" ], "HP:0100178": [ "stippling of the epiphysis of the distal phalanx of the 4th toe", "speckled calcification in the end part of the outermost bone of the 4th toe", "speckled calcifications in the end part of the outermost bone of the 4th toe" ], "HP:0100179": [ "triangular epiphysis of the distal phalanx of the 4th toe", "triangular end part of the outermost bone of the 4th toe" ], "HP:0100180": [ "absent epiphysis of the middle phalanx of the 4th toe", "absent end part of the middle bone of the 4th toe" ], "HP:0100181": [ "bracket epiphysis of the middle phalanx of the 4th toe", "bracket shape end part of the middle bone of the 4th toe", "bracket shaped end part of the middle bone of the 4th toe" ], "HP:0100182": [ "cone - shaped epiphysis of the middle phalanx of the 4th toe", "cone - shaped end part of the middle bone of the 4th toe" ], "HP:0100183": [ "enlarged epiphysis of the middle phalanx of the 4th toe", "enlarged end part of the middle bone of the 4th toe" ], "HP:0100184": [ "fragmentation of the epiphysis of the middle phalanx of the 4th toe", "fragmentation of the end part of the middle bone of the 4th toe" ], "HP:0100185": [ "irregular epiphysis of the middle phalanx of the 4th toe", "irregular end part of the middle bone of the 4th toe" ], "HP:0100186": [ "ivory epiphysis of the middle phalanx of the 4th toe", "increase bone density of end part of the middle bone of the 4th toe", "increased bone density of end part of the middle bone of the 4th toe" ], "HP:0100187": [ "pseudoepiphysis of the middle phalanx of the 4th toe" ], "HP:0100188": [ "small epiphysis of the middle phalanx of the 4th toe", "small end part of middle long bone of 4th toe" ], "HP:0100189": [ "stippling of the epiphysis of the middle phalanx of the 4th toe", "speckled calcification in the end part of the middle bone of the 4th toe", "speckled calcifications in the end part of the middle bone of the 4th toe" ], "HP:0100190": [ "triangular epiphysis of the middle phalanx of the 4th toe", "triangular end part of the middle bone of the 4th toe" ], "HP:0100191": [ "absent epiphysis of the proximal phalanx of the 4th toe", "absent end part of the innermost bone of the 4th toe" ], "HP:0100192": [ "bracket epiphysis of the proximal phalanx of the 4th toe", "bracket shape end part of the innermost bone of 4th toe", "bracket shaped end part of the innermost bone of 4th toe" ], "HP:0100193": [ "cone - shaped epiphysis of the proximal phalanx of the 4th toe", "cone - shaped end part of the innermost bone of the 4th toe" ], "HP:0100194": [ "enlarged epiphysis of the proximal phalanx of the 4th toe", "enlarged end part of the innermost bone of the 4th toe" ], "HP:0100195": [ "fragmentation of the epiphysis of the proximal phalanx of the 4th toe", "fragmentation of the end part of the innermost bone of the 4th toe" ], "HP:0100196": [ "irregular epiphysis of the proximal phalanx of the 4th toe", "irregular end part of the innermost bone of the 4th toe" ], "HP:0100197": [ "ivory epiphysis of the proximal phalanx of the 4th toe", "increase bone density of end part of the innermost bone of the 4th toe", "increased bone density of end part of the innermost bone of the 4th toe" ], "HP:0100198": [ "pseudoepiphysis of the proximal phalanx of the 4th toe" ], "HP:0100199": [ "small epiphysis of the proximal phalanx of the 4th toe", "small end part of the innermost bone of the 4th toe" ], "HP:0100200": [ "stippling of the epiphysis of the proximal phalanx of the 4th toe", "speckled calcification in the end part of the innermost bone of the 4th toe", "speckled calcifications in the end part of the innermost bone of the 4th toe" ], "HP:0100201": [ "triangular epiphysis of the proximal phalanx of the 4th toe", "triangular end part of the innermost bone of the 4th toe" ], "HP:0100202": [ "absent epiphysis of the distal phalanx of the 5th toe", "absent end part of the outermost bone of the little toe", "absent end part of the outermost bone of the pinkie toe", "absent end part of the outermost bone of the pinky toe" ], "HP:0100203": [ "bracket epiphysis of the distal phalanx of the 5th toe", "bracket shape end part of the outermost bone of the little toe", "bracket shaped end part of the outermost bone of the little toe", "bracket shape end part of the outermost bone of the pinkie toe", "bracket shaped end part of the outermost bone of the pinkie toe", "bracket shape end part of the outermost bone of the pinky toe", "bracket shaped end part of the outermost bone of the pinky toe" ], "HP:0100204": [ "cone - shaped epiphysis of the distal phalanx of the 5th toe", "cone - shaped end part of the outermost bone of the little toe", "cone - shaped end part of the outermost bone of the pinkie toe", "cone - shaped end part of the outermost bone of the pinky toe" ], "HP:0100205": [ "enlarged epiphysis of the distal phalanx of the 5th toe", "enlarged end part of the outermost bone of the little toe", "enlarged end part of the outermost bone of the pinkie toe", "enlarged end part of the outermost bone of the pinky toe" ], "HP:0100206": [ "fragmentation of the epiphysis of the distal phalanx of the 5th toe", "fragmentation of the end part of the outermost bone of the little toe", "fragmentation of the end part of the outermost bone of the pinkie toe", "fragmentation of the end part of the outermost bone of the pinky toe" ], "HP:0100207": [ "irregular epiphysis of the distal phalanx of the 5th 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 pinky toe" ], "HP:0100208": [ "ivory epiphysis of the distal phalanx of the 5th 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 little 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 pinkie toe", "increase bone density of end part of the outermost bone of the pinky toe", "increased bone density of end part of the outermost bone of the pinky toe" ], "HP:0100209": [ "pseudoepiphysis of the distal phalanx of the 5th toe" ], "HP:0100210": [ "small epiphysis of the distal phalanx of the 5th 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 pinky toe" ], "HP:0100211": [ "stippling of the epiphysis of the distal phalanx of the 5th 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 little 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 pinkie toe", "speckled calcification in the end part of the outermost bone of the pinky toe", "speckled calcifications in the end part of the outermost bone of the pinky toe" ], "HP:0100212": [ "triangular epiphysis of the distal phalanx of the 5th toe", "triangular end part of the outermost bone of the little toe", "triangular end part of the outermost bone of the pinkie toe", "triangular end part of the outermost bone of the pinky toe" ], "HP:0100213": [ "absent epiphysis of the middle phalanx of the 5th toe", "absent end part of the middle bone of the little toe", "absent end part of the middle bone of the pinkie toe", "absent end part of the middle bone of the pinky toe" ], "HP:0100214": [ "bracket epiphysis of the middle phalanx of the 5th toe", "bracket shape end part of the middle bone of the little toe", "bracket shaped end part of the middle bone of the little toe", "bracket shape end part of the middle bone of the pinkie toe", "bracket shaped end part of the middle bone of the pinkie toe", "bracket shape end part of the middle bone of the pinky toe", "bracket shaped end part of the middle bone of the pinky toe" ], "HP:0100215": [ "cone - shaped epiphysis of the middle phalanx of the 5th toe", "cone - shaped end part of the middle bone of the little toe", "cone - shaped end part of the middle bone of the pinkie toe", "cone - shaped end part of the middle bone of the pinky toe" ], "HP:0100216": [ "enlarged epiphysis of the middle phalanx of the 5th toe", "enlarged end part of the middle bone of the little toe", "enlarged end part of the middle bone of the pinkie toe", "enlarged end part of the middle bone of the pinky toe" ], "HP:0100217": [ "fragmentation of the epiphysis of the middle phalanx of the 5th toe", "fragmentation of the end part of the middle bone of the little toe", "fragmentation of the end part of the middle bone of the pinkie toe", "fragmentation of the end part of the middle bone of the pinky toe" ], "HP:0100218": [ "irregular epiphysis of the middle phalanx of the 5th toe", "irregular end part of the middle bone of the little toe", "irregular end part of the middle bone of the pinkie toe", "irregular end part of the middle bone of the pinky toe" ], "HP:0100219": [ "ivory epiphysis of the middle phalanx of the 5th toe", "increase bone density of end part of the middle bone of the little toe", "increased bone density of end part of the middle bone of the little toe", "increase bone density of end part of the middle bone of the pinkie toe", "increased bone density of end part of the middle bone of the pinkie toe", "increase bone density of end part of the middle bone of the pinky toe", "increased bone density of end part of the middle bone of the pinky toe" ], "HP:0100220": [ "pseudoepiphysis of the middle phalanx of the 5th toe" ], "HP:0100221": [ "small epiphysis of the middle phalanx of the 5th toe", "small end part of the middle bone of the little toe", "small end part of the middle bone of the pinkie toe", "small end part of the middle bone of the pinky toe" ], "HP:0100222": [ "stippling of the epiphysis of the middle phalanx of the 5th toe", "speckled calcification in end part of the innermost bone of the pinkie toe", "speckled calcifications in end part of the innermost bone of the pinkie 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 little toe", "speckled calcification in middle part of the innermost bone of the pinky toe", "speckled calcifications in middle part of the innermost bone of the pinky toe" ], "HP:0100223": [ "triangular epiphysis of the middle phalanx of the 5th 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 pinky toe" ], "HP:0100224": [ "absent epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100225": [ "bracket epiphysis of the proximal phalanx of the 5th toe", "bracket shape end part of the innermost bone of the little toe", "bracket shaped end part of the innermost bone of the little toe", "bracket shape end part of the innermost bone of the pinkie toe", "bracket shaped end part of the innermost bone of the pinkie toe", "bracket shape end part of the innermost bone of the pinky toe", "bracket shaped end part of the innermost bone of the pinky toe" ], "HP:0100226": [ "cone - shaped epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100227": [ "enlarged epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100228": [ "fragmentation of the epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100229": [ "irregular epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100230": [ "ivory epiphysis of the proximal phalanx of the 5th 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 little 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 pinkie toe", "increase bone density of end part of the innermost bone of the pinky toe", "increased bone density of end part of the innermost bone of the pinky toe" ], "HP:0100231": [ "pseudoepiphysis of the proximal phalanx of the 5th toe" ], "HP:0100232": [ "small epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100233": [ "stippling of the epiphysis of the proximal phalanx of the 5th 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 little 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 pinkie toe", "speckled calcification in the end part of the innermost bone of the pinky toe", "speckled calcifications in the end part of the innermost bone of the pinky toe" ], "HP:0100234": [ "triangular epiphysis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100235": [ "synostosis involve bone of the toe", "synostosis involving bones of the toes", "fusion involve bone of the toe", "fusion involving bones of the toes" ], "HP:0100237": [ "proximal foot symphalangism" ], "HP:0100238": [ "synostosis involve bone of the upper limb", "synostosis involving bones of the upper limbs", "fusion involve bone of the upper limb", "fusion involving bones of the upper limbs" ], "HP:0100240": [ "synostosis of joint", "synostosis of joints", "bony ankylosis", "fusion of joint", "fusion of joints" ], "HP:0100241": [ "ectopic respiratory mucosa" ], "HP:0100242": [ "sarcoma", "cancer of connective tissue", "malignant connective tissue tumor", "malignant connective tissue tumour" ], "HP:0100243": [ "leiomyosarcoma" ], "HP:0100244": [ "fibrosarcoma" ], "HP:0100245": [ "desmoid tumor", "desmoid tumors", "desmoid tumour", "desmoid tumours" ], "HP:0100246": [ "osteoma" ], "HP:0100247": [ "recurrent singultus", "hiccup", "hiccups", "recurrent hiccough", "recurrent hiccup", "recurrent synchronous diaphragmatic flutter" ], "HP:0100248": [ "hemiballismus", "ballismus" ], "HP:0100249": [ "calcification of muscle", "calcification of muscles", "skeletal muscle calcinosis" ], "HP:0100250": [ "meningeal calcification" ], "HP:0100251": [ "multiple central nervous system lipoma", "multiple central nervous system lipomas", "lipoma of the central nervous system", "lipomas of the central nervous system" ], "HP:0100252": [ "diaphyseal dysplasia" ], "HP:0100253": [ "abnormality of the medullary cavity of the long bone", "abnormality of the medullary cavity of the long bones", "abnormality of the marrow cavity of the long bone", "abnormality of the marrow cavity of the long bones" ], "HP:0100254": [ "stenosis of the medullary cavity of the long bone", "stenosis of the medullary cavity of the long bones" ], "HP:0100255": [ "metaphyseal dysplasia" ], "HP:0000948": [ "metaphyseal dysplasia" ], "HP:0005002": [ "metaphyseal dysplasia" ], "HP:0005636": [ "metaphyseal dysplasia" ], "HP:0005704": [ "metaphyseal dysplasia" ], "HP:0006427": [ "metaphyseal dysplasia" ], "HP:0100256": [ "senile plaque", "senile plaques", "braindruse", "neuritic plaque", "neuritic plaques", "senile druse" ], "HP:0100257": [ "ectrodactyly", "cleft hand", "lobster claw hand" ], "HP:0100258": [ "preaxial polydactyly", "polydactyly , preaxial" ], "HP:0100259": [ "postaxial polydactyly", "polydactyly , postaxial", "postaxial hexadactyly" ], "HP:0005808": [ "postaxial polydactyly", "polydactyly , postaxial", "postaxial hexadactyly" ], "HP:0100260": [ "mesoaxial polydactyly", "central polydactyly", "insertional polydactyly", "intercalary polydactyly" ], "HP:0100261": [ "abnormal tendon morphology", "abnormal shape of tendon", "abnormality of the sinew" ], "HP:0100262": [ "synostosis involve digit", "synostosis involving digits", "fusion involve digit", "fusion involving digits" ], "HP:0100263": [ "distal symphalangism", "symphalangism , distal" ], "HP:0100264": [ "proximal symphalangism", "cushing 's symphalangism" ], "HP:0100265": [ "synostosis of metacarpal / metatarsal", "synostosis of metacarpals / metatarsals", "fusion of long bone of hand / long bone of foot", "fusion of long bones of hand / long bones of foot" ], "HP:0100266": [ "synostosis of carpal / tarsal", "synostosis of carpals / tarsals", "carpal and tarsal fusion", "carpal and tarsal fusions", "coalescence of carpal and tarsal bone", "coalescence of carpal and tarsal bones", "fusion of carpal and tarsal bone", "fusion of carpal and tarsal bones", "wrist bone / ankle bone fusion", "wrist bone / ankle bone fusions" ], "HP:0005666": [ "synostosis of carpal / tarsal", "synostosis of carpals / tarsals", "carpal and tarsal fusion", "carpal and tarsal fusions", "coalescence of carpal and tarsal bone", "coalescence of carpal and tarsal bones", "fusion of carpal and tarsal bone", "fusion of carpal and tarsal bones", "wrist bone / ankle bone fusion", "wrist bone / ankle bone fusions" ], "HP:0005675": [ "synostosis of carpal / tarsal", "synostosis of carpals / tarsals", "carpal and tarsal fusion", "carpal and tarsal fusions", "coalescence of carpal and tarsal bone", "coalescence of carpal and tarsal bones", "fusion of carpal and tarsal bone", "fusion of carpal and tarsal bones", "wrist bone / ankle bone fusion", "wrist bone / ankle bone fusions" ], "HP:0005823": [ "synostosis of carpal / tarsal", "synostosis of carpals / tarsals", "carpal and tarsal fusion", "carpal and tarsal fusions", "coalescence of carpal and tarsal bone", "coalescence of carpal and tarsal bones", "fusion of carpal and tarsal bone", "fusion of carpal and tarsal bones", "wrist bone / ankle bone fusion", "wrist bone / ankle bone fusions" ], "HP:0100267": [ "lip pit" ], "HP:0100268": [ "upper lip pit" ], "HP:0100269": [ "paramedian lip pit", "paramedian labial pit", "paramedian labial pits" ], "HP:0100270": [ "abnormality of dorsoventral patterning of the limb", "abnormality of dorsoventral patterning of the limbs" ], "HP:0100271": [ "hyponasal speech" ], "HP:0100272": [ "branchial sinus", "branchial cleft sinus" ], "HP:0100273": [ "neoplasm of the colon", "colon tumor", "colon tumour" ], "HP:0100274": [ "gustatory lacrimation" ], "HP:0100275": [ "diffuse cerebellar atrophy" ], "HP:0006928": [ "diffuse cerebellar atrophy" ], "HP:0100276": [ "skin pit", "skin pits" ], "HP:0100277": [ "periauricular skin pit", "periauricular skin pits", "periauricular earpits", "periauricular fistula", "periauricular fistulas", "periauricular pit", "periauricular pits", "periauricular sinus", "pit around the ear", "pits around the ear" ], "HP:0100279": [ "ulcerative colitis", "colitis ulcerosa" ], "HP:0100280": [ "crohn 's disease", "granulomatous enteritis and colitis", "morbus crohn" ], "HP:0100281": [ "chronic colitis" ], "HP:0100282": [ "acute colitis" ], "HP:0100283": [ "emg : continuous motor unit activity at rest" ], "HP:0100284": [ "emg : myotonic discharge", "emg : myotonic discharges" ], "HP:0100285": [ "emg : impaired neuromuscular transmission" ], "HP:0100287": [ "emg : slow motor conduction" ], "HP:0100288": [ "emg : myokymic discharge", "emg : myokymic discharges" ], "HP:0100289": [ "abnormality of pattern reversal visual evoke potential", "abnormality of pattern reversal visual evoked potentials", "abnormality of pattern reversal vep" ], "HP:0100290": [ "abnormality of peripheral somatosensory evoke potential", "abnormality of peripheral somatosensory evoked potentials" ], "HP:0100291": [ "abnormality of central somatosensory evoke potential", "abnormality of central somatosensory evoked potentials" ], "HP:0100292": [ "amyloidosis of peripheral nerve", "amyloidosis of peripheral nerves" ], "HP:0100293": [ "muscle fiber hypertrophy", "muscle fibre hypertrophy" ], "HP:0100295": [ "muscle fiber atrophy", "muscle fiber degeneration", "muscle fibre atrophy", "muscle fibre degeneration" ], "HP:0100294": [ "muscle fiber atrophy", "muscle fiber degeneration", "muscle fibre atrophy", "muscle fibre degeneration" ], "HP:0100296": [ "perifascicular muscle fiber atrophy", "perifascicular muscle fibre atrophy" ], "HP:0100297": [ "increase endomysial connective tissue", "increased endomysial connective tissue" ], "HP:0100298": [ "motheaten muscle fiber", "motheaten muscle fibers", "motheaten muscle fibre", "motheaten muscle fibres" ], "HP:0100299": [ "muscle fiber inclusion body", "muscle fiber inclusion bodies", "muscle fibre inclusion body", "muscle fibre inclusion bodies" ], "HP:0100300": [ "desmin body", "desmin bodies" ], "HP:0100301": [ "muscle fiber tubular inclusion", "muscle fiber tubular inclusions", "muscle fiber tubular aggregate", "muscle fiber tubular aggregates", "muscle fibre tubular aggregate", "muscle fibre tubular aggregates", "muscle fibre tubular inclusion", "muscle fibre tubular inclusions" ], "HP:0100302": [ "muscle fiber tubuloreticular inclusion", "muscle fiber tubuloreticular inclusions", "muscle fiber tubuloreticular aggregate", "muscle fiber tubuloreticular aggregates", "muscle fibre tubuloreticular aggregate", "muscle fibre tubuloreticular aggregates", "muscle fibre tubuloreticular inclusion", "muscle fibre tubuloreticular inclusions" ], "HP:0100303": [ "muscle fiber cytoplasmatic inclusion body", "muscle fiber cytoplasmatic inclusion bodies", "muscle fiber cytoplasmic body", "muscle fiber cytoplasmic bodies", "muscle fibre cytoplasmatic inclusion body", "muscle fibre cytoplasmatic inclusion bodies", "muscle fibre cytoplasmic body", "muscle fibre cytoplasmic bodies" ], "HP:0003790": [ "muscle fiber cytoplasmatic inclusion body", "muscle fiber cytoplasmatic inclusion bodies", "muscle fiber cytoplasmic body", "muscle fiber cytoplasmic bodies", "muscle fibre cytoplasmatic inclusion body", "muscle fibre cytoplasmatic inclusion bodies", "muscle fibre cytoplasmic body", "muscle fibre cytoplasmic bodies" ], "HP:0100304": [ "muscle fiber intranuclear inclusion body", "muscle fiber intranuclear inclusion bodies", "muscle fibre intranuclear inclusion body", "muscle fibre intranuclear inclusion bodies" ], "HP:0100305": [ "ring fiber", "ring fibers", "ring fibre", "ring fibres" ], "HP:0100306": [ "muscle fiber hyaline body", "muscle fiber hyaline bodies", "muscle fibre hyaline body", "muscle fibre hyaline bodies" ], "HP:0100307": [ "cerebellar hemisphere hypoplasia" ], "HP:0100308": [ "cerebral cortical hemiatrophy" ], "HP:0100309": [ "subdural hemorrhage", "subdural haematoma", "subdural haemorrhage", "subdural hematoma" ], "HP:0100310": [ "epidural hemorrhage", "epidural haematoma", "epidural haemorrhage", "epidural hematoma", "extradural haematoma", "extradural hematoma" ], "HP:0100311": [ "cerebral ventricular adhesion", "cerebral ventricular adhesions" ], "HP:0100312": [ "cerebral germinoma" ], "HP:0100313": [ "cerebral granulomatosis" ], "HP:0100314": [ "cerebral inclusion body", "cerebral inclusion bodies" ], "HP:0100315": [ "lewy body", "lewy bodies", "lewy body disease" ], "HP:0100316": [ "hirano body", "hirano bodies" ], "HP:0100317": [ "argyrophilic inclusion body", "argyrophilic inclusion bodies", "agyrophilic inclusion body", "agyrophilic inclusion bodies", "pick inclusion body", "pick inclusion bodies" ], "HP:0100318": [ "lafora body", "lafora bodies" ], "HP:0100319": [ "cerebral hyaline body", "cerebral hyaline bodies", "cerebral colloid body", "cerebral colloid bodies" ], "HP:0100320": [ "rosenthal fiber", "rosenthal fibers", "rosenthal fibre", "rosenthal fibres" ], "HP:0100321": [ "abnormal dentate nucleus morphology", "abnormality of the dentate nucleus" ], "HP:0100322": [ "aplasia of the pyramidal tract", "absent pyramidal tract" ], "HP:0100323": [ "juvenile aseptic necrosis", "aseptic epiphyseal necrosis" ], "HP:0100324": [ "scleroderma", "progressive systemic scleroderma", "pseudoscleroderma" ], "HP:0001594": [ "scleroderma", "progressive systemic scleroderma", "pseudoscleroderma" ], "HP:0007426": [ "scleroderma", "progressive systemic scleroderma", "pseudoscleroderma" ], "HP:0100326": [ "immunologic hypersensitivity" ], "HP:0100327": [ "cow milk allergy", "ige - mediate cow milk allergy", "ige - mediated cow milk allergy", "immunoglobulin e - mediate cow milk allergy", "immunoglobulin e - mediated cow milk allergy", "milk allergy" ], "HP:0100328": [ "carpometacarpal synostosis", "fuse wrist bone and long bone of hand", "fused wrist bones and long bones of hand" ], "HP:0100329": [ "tarsometatarsal synostosis", "fuse bone of the midfoot", "fused bones of the midfoot" ], "HP:0100333": [ "unilateral cleft lip", "one side cleft upper lip", "one sided cleft upper lip", "unilateral cheiloschisis", "unilateral cleft upper lip" ], "HP:0100331": [ "unilateral cleft lip", "one side cleft upper lip", "one sided cleft upper lip", "unilateral cheiloschisis", "unilateral cleft upper lip" ], "HP:0100334": [ "unilateral cleft palate", "one side cleft palate", "one sided cleft palate", "unilateral palatoschisis" ], "HP:0100335": [ "non - midline cleft lip", "non - midline cleft of the upper lip", "paramedian cleft of the upper lip" ], "HP:0010283": [ "non - midline cleft lip", "non - midline cleft of the upper lip", "paramedian cleft of the upper lip" ], "HP:0100332": [ "non - midline cleft lip", "non - midline cleft of the upper lip", "paramedian cleft of the upper lip" ], "HP:0100336": [ "bilateral cleft lip", "bilateral cheiloschisis", "both side cleft lip", "both sided cleft lip", "right and leave cleft lip", "right and left cleft lip" ], "HP:0100337": [ "bilateral cleft palate", "bilateral palatoschisis", "right and leave cleft palate", "right and left cleft palate" ], "HP:0100338": [ "non - midline cleft palate", "paramedian cleft palate" ], "HP:0100339": [ "abnormality of the o naviculare pedis", "abnormality of the os naviculare pedis" ], "HP:0100340": [ "fibular deviation of the 4th toe" ], "HP:0100341": [ "tibial deviation of the 4th toe" ], "HP:0100342": [ "fibular deviation of the 3rd toe" ], "HP:0100343": [ "tibial deviation of the 3rd toe" ], "HP:0100344": [ "fibular deviation of the 2nd toe" ], "HP:0100345": [ "tibial deviation of the 2nd toe" ], "HP:0100346": [ "fibular deviation of the 5th toe" ], "HP:0100347": [ "tibial deviation of the 5th toe" ], "HP:0100348": [ "contracture of the proximal interphalangeal joint of the 2nd toe", "camptodactyly of the 2nd toe", "camptodactyly of the second toe" ], "HP:0100349": [ "contracture of the proximal interphalangeal joint of the 3rd toe", "camptodactyly of the 3rd toe" ], "HP:0100350": [ "contracture of the proximal interphalangeal joint of the 4th toe", "camptodactyly of the 4th toe", "camptodactyly of the fourth toe", "contracture of the innermost hinge joint of the 4th toe" ], "HP:0100351": [ "contracture of the proximal interphalangeal joint of the 5th toe", "contractures of the proximal interphalangeal joint of the 5th toe", "camptodactyly of the 5th toe", "camptodactyly of the fifth toe" ], "HP:0100352": [ "contracture of the distal interphalangeal joint of the 2nd toe", "contracture of the distal interphalangeal joint of the second toe" ], "HP:0100353": [ "contracture of the distal interphalangeal joint of the 3rd toe" ], "HP:0100354": [ "contracture of the distal interphalangeal joint of the 4th toe" ], "HP:0100355": [ "contracture of the distal interphalangeal joint of the 5th toe", "contractures of the distal interphalangeal joint of the 5th toe", "contracture of the outermost hinge joint of the 5th toe" ], "HP:0100356": [ "contracture of the metatarsophalangeal joint of the 2nd toe" ], "HP:0100357": [ "contracture of the metatarsophalangeal joint of the 3rd toe" ], "HP:0100358": [ "contracture of the metatarsophalangeal joint of the 4th toe" ], "HP:0100359": [ "contracture of the metatarsophalangeal joint of the 5th toe" ], "HP:0100360": [ "contracture of the joint of the upper limb", "contractures of the joints of the upper limbs" ], "HP:0100362": [ "aplasia of the phalanx of the 3rd toe", "aplasia of the phalanges of the 3rd toe", "absent digital bone of the 3rd toe" ], "HP:0100363": [ "aplasia of the phalanx of the 4th toe", "aplasia of the phalanges of the 4th toe", "absent bone of the 4th toe", "absent bones of the 4th toe" ], "HP:0100364": [ "aplasia of the phalanx of the 5th toe", "aplasia of the phalanges of the 5th toe", "absent little toe bone", "absent little toe bones", "absent pinkie toe bone", "absent pinkie toe bones", "absent pinky toe bone", "absent pinky toe bones" ], "HP:0100366": [ "short phalanx of the 3rd toe", "hypoplastic / small phalanx of the 3rd toe", "hypoplastic / small phalanges of the 3rd toe", "short 3rd toe bone", "short phalanx of the third toe" ], "HP:0100367": [ "short phalanx of the 4th toe", "hypoplastic / small phalanx of the 4th toe", "hypoplastic / small phalanges of the 4th toe", "short 4th toe bone", "short phalanx of the fourth toe" ], "HP:0100368": [ "short phalanx of the 5th toe", "hypoplastic / small phalanx of the 5th toe", "hypoplastic / small phalanges of the 5th toe", "short little toe bone", "short phalanx of the fifth toe", "short pinkie toe bone", "short pinky toe bone" ], "HP:0100369": [ "aplasia / hypoplasia of the distal phalanx of the 3rd toe", "absent / small outermost 3rd toe bone", "absent / underdevelop outermost 3rd toe bone", "absent / underdeveloped outermost 3rd toe bone" ], "HP:0100370": [ "aplasia / hypoplasia of the distal phalanx of the 4th toe", "absent / small outermost bone of 4th toe", "absent / underdevelop outermost bone of 4th toe", "absent / underdeveloped outermost bone of 4th toe" ], "HP:0100371": [ "aplasia / hypoplasia of the distal phalanx of the 5th toe", "absent / small outermost little toe bone", "absent / small outermost pinkie toe bone", "absent / small outermost pinky toe bone", "absent / underdevelop outermost pinky toe bone", "absent / underdeveloped outermost pinky toe bone" ], "HP:0100372": [ "aplasia / hypoplasia of the middle phalanx of the 3rd toe", "absent / small middle 3rd toe bone", "absent / underdevelop middle 3rd toe bone", "absent / underdeveloped middle 3rd toe bone" ], "HP:0100373": [ "aplasia / hypoplasia of the middle phalanx of the 4th toe", "absent / small middle bone of the 4th toe", "absent / underdevelop middle bone of the 4th toe", "absent / underdeveloped middle bone of the 4th toe" ], "HP:0100374": [ "aplasia / hypoplasia of the middle phalanx of the 5th toe", "absent / small middle 5th toe bone", "absent / underdevelop middle bone of little toe", "absent / underdeveloped middle bone of little toe", "absent / underdevelop middle bone of pinkie toe", "absent / underdeveloped middle bone of pinkie toe", "absent / underdevelop middle bone of pinky toe", "absent / underdeveloped middle bone of pinky toe" ], "HP:0100375": [ "aplasia / hypoplasia of the proximal phalanx of the 3rd toe", "absent / small innermost bone of 3rd toe", "absent / underdevelop innermost bone of 3rd toe", "absent / underdeveloped innermost bone of 3rd toe" ], "HP:0100376": [ "aplasia / hypoplasia of the proximal phalanx of the 4th toe", "absent / small innermost 4th toe bone", "absent / underdevelop innermost 4th toe bone", "absent / underdeveloped innermost 4th toe bone" ], "HP:0100377": [ "aplasia / hypoplasia of the proximal phalanx of the 5th toe", "absent / small innermost little toe bone", "absent / small innermost pinkie toe bone", "absent / small innermost pinky toe bone", "absent / underdevelop innermost 5th toe bone", "absent / underdeveloped innermost 5th toe bone" ], "HP:0100378": [ "absent distal phalanx of the 3rd toe", "absent distal phalanx of the third toe", "absent outermost bone of the 3rd toe", "aplasia of the distal phalanx of the 3rd toe" ], "HP:0100379": [ "aplasia of the distal phalanx of the 4th toe", "absent distal phalanx of the 4th toe", "absent outermost bone of the 4th toe" ], "HP:0100380": [ "aplasia of the distal phalanx of the 5th toe", "absent outermost bone of the little toe", "absent outermost bone of the pinkie toe", "absent outermost bone of the pinky toe" ], "HP:0100381": [ "absent middle phalanx of the 3rd toe", "absent middle bone of the 3rd toe", "absent middle phalanx of the third toe", "aplasia of the middle phalanx of the 3rd toe" ], "HP:0100382": [ "aplasia of the middle phalanx of the 4th toe", "absent middle bone of 4th toe" ], "HP:0100383": [ "aplasia of the middle phalanx of the 5th toe", "absent middle bone of little toe", "absent middle bone of pinkie toe", "absent middle bone of pinky toe" ], "HP:0100384": [ "absent proximal phalanx of the 3rd toe", "absent innermost bone of the 3rd toe", "aplasia of the proximal phalanx of the 3rd toe" ], "HP:0100385": [ "aplasia of the proximal phalanx of the 4th toe", "absent innermost bone of the 4th toe" ], "HP:0100386": [ "aplasia of the proximal phalanx of the 5th toe", "absent innermost bone of the little toe", "absent innermost bone of the pinkie toe", "absent innermost bone of the pinky toe" ], "HP:0100387": [ "aplasia of the middle phalanx of the toe", "aplasia of the middle phalanges of the toes", "absent middle toe bone", "absent middle toe bones" ], "HP:0100388": [ "aplasia of the proximal phalanx of the toe", "aplasia of the proximal phalanges of the toes", "absent innermost toe bone", "absent innermost toe bones" ], "HP:0100389": [ "short distal phalanx of the 3rd toe", "hypoplastic / small distal phalanx of the 3rd toe", "short distal phalanx of the third toe", "short outermost bone of the 3rd toe" ], "HP:0100390": [ "short distal phalanx of the 4th toe", "hypoplastic / small distal phalanx of the 4th toe", "short distal phalanx of the fourth toe", "short outermost bone of the 4th toe" ], "HP:0100391": [ "short distal phalanx of the 5th toe", "hypoplastic / small distal phalanx of the 5th toe", "short distal phalanx of the fifth toe", "short outermost bone of the little toe", "short outermost bone of the pinkie toe", "short outermost bone of the pinky toe" ], "HP:0100392": [ "short middle phalanx of the 3rd toe", "hypoplastic / small middle phalanx of the 3rd toe", "short middle phalanx of the third toe" ], "HP:0100393": [ "short middle phalanx of the 4th toe", "hypoplastic / small middle phalanx of the 4th toe", "short middle bone of 4th toe", "short middle phalanx of the fourth toe" ], "HP:0100394": [ "short middle phalanx of the 5th toe", "hypoplastic / small middle phalanx of the 5th toe", "short middle bone of little toe", "short middle bone of pinkie toe", "short middle bone of pinky toe", "short middle phalanx of the fifth toe" ], "HP:0100395": [ "short proximal phalanx of the 3rd toe", "hypoplastic / small proximal phalanx of the 3rd toe", "short proximal phalanx of the third toe" ], "HP:0100396": [ "short proximal phalanx of the 4th toe", "hypoplastic / small proximal phalanx of the 4th toe", "short fourth toe proximal phalanx", "short proximal phalanx of the fourth toe" ], "HP:0005628": [ "short proximal phalanx of the 4th toe", "hypoplastic / small proximal phalanx of the 4th toe", "short fourth toe proximal phalanx", "short proximal phalanx of the fourth toe" ], "HP:0100397": [ "short proximal phalanx of the 5th toe", "hypoplastic / small proximal phalanx of the 5th toe", "short innermost bone of little toe", "short innermost bone of pinkie toe", "short innermost bone of pinky toe", "short proximal phalanx of the fifth toe" ], "HP:0100398": [ "duplication of the distal phalanx of the 3rd toe", "duplication of the distal phalanx of the third toe", "duplication of the outermost bone of the 3rd toe", "partial / complete duplication of the distal phalanx of the 3rd toe" ], "HP:0100399": [ "duplication of the distal phalanx of the 4th toe", "duplication of the distal phalanx of the fourth toe", "duplication of the outermost bone of the 4th toe", "partial / complete duplication of the distal phalanx of the 4th toe" ], "HP:0100400": [ "duplication of the distal phalanx of the 5th 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 little toe", "duplication of the outermost bone of the pinkie toe", "duplication of the outermost bone of the pinky toe", "partial / complete duplication of the distal phalanx of the 5th toe" ], "HP:0100401": [ "duplication of the middle phalanx of the 3rd toe", "duplication of the middle bone of the 3rd toe", "duplication of the middle phalanx of the third toe", "partial / complete duplication of the middle phalanx of the 3rd toe" ], "HP:0100402": [ "duplication of the middle phalanx of the 4th toe", "duplication of the middle bone of the 4th toe", "duplication of the middle phalanx of the fourth toe", "partial / complete duplication of the middle phalanx of the 4th toe" ], "HP:0100403": [ "duplication of the middle phalanx of the 5th 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 pinky toe", "duplication of the middle phalanx of the fifth toe", "partial / complete duplication of the middle phalanx of the 5th toe" ], "HP:0100404": [ "duplication of the proximal phalanx of the 3rd toe", "duplication of the innermost 3rd toe bone", "duplication of the proximal phalanx of the third toe", "partial / complete duplication of the proximal phalanx of the 3rd toe" ], "HP:0100405": [ "duplication of the proximal phalanx of the 4th toe", "duplication of the innermost 4th toe bone", "duplication of the proximal phalanx of the fourth toe", "partial / complete duplication of the proximal phalanx of the 4th toe" ], "HP:0100406": [ "duplication of the proximal phalanx of the 5th 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 pinky toe", "duplication of the proximal phalanx of the fifth toe", "partial / complete duplication of the proximal phalanx of the 5th toe" ], "HP:0100407": [ "complete duplication of the distal phalanx of the 3rd toe", "complete duplication of the distal phalanx of the third toe", "complete duplication of the outermost bone of the 3rd toe" ], "HP:0100408": [ "complete duplication of the distal phalanx of the 4th toe", "complete duplication of the distal phalanx of the fourth toe", "complete duplication of the outermost bone of the 4th toe" ], "HP:0100409": [ "complete duplication of the distal phalanx of the 5th 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 pinkie toe", "complete duplication of the outermost bone of the pinky toe" ], "HP:0100410": [ "complete duplication of the middle phalanx of the 3rd toe", "complete duplication of the middle bone of the 3rd toe", "complete duplication of the middle phalanx of the third toe" ], "HP:0100411": [ "complete duplication of the middle phalanx of the 4th toe", "complete duplication of the middle bone of the 4th toe", "complete duplication of the middle phalanx of the fourth toe" ], "HP:0100412": [ "complete duplication of the middle phalanx of the 5th 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 pinky toe", "complete duplication of the middle phalanx of the fifth toe" ], "HP:0100413": [ "complete duplication of the proximal phalanx of the 3rd toe", "complete duplication of the innermost 3rd toe bone" ], "HP:0100414": [ "complete duplication of the proximal phalanx of the 4th toe", "complete duplication of the innermost 4th toe bone" ], "HP:0100415": [ "complete duplication of the proximal phalanx of the 5th 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 pinky toe", "complete duplication of the proximal phalanx of the fifth toe" ], "HP:0100416": [ "partial duplication of the distal phalanx of the 3rd toe", "partial duplication of the distal phalanx of the third toe", "partial duplication of the outermost bone of the 3rd toe" ], "HP:0100417": [ "partial duplication of the distal phalanx of the 4th toe", "partial duplication of the distal phalanx of the fourth toe", "partial duplication of the outermost bone of the fourth toe" ], "HP:0100418": [ "partial duplication of the distal phalanx of the 5th toe", "partial duplication of the distal phalanx of the fifth toe", "partial duplication of the outermost bone of the fifth toe", "partial duplication of the outermost bone of the little toe", "partial duplication of the outermost bone of the pinkie toe", "partial duplication of the outermost bone of the pinky toe" ], "HP:0100419": [ "partial duplication of the middle phalanx of the 3rd toe", "partial duplication of the middle bone of 3rd toe", "partial duplication of the middle phalanx of the third toe" ], "HP:0100420": [ "partial duplication of the middle phalanx of the 4th toe", "partial duplication of the middle bone of the 4th toe", "partial duplication of the middle phalanx of the fourth toe" ], "HP:0100421": [ "partial duplication of the middle phalanx of the 5th toe", "partial duplication of the middle bone of the little toe", "partial duplication of the middle bone of the pinkie toe", "partial duplication of the middle bone of the pinky toe", "partial duplication of the middle phalanx of the fifth toe" ], "HP:0100422": [ "partial duplication of the proximal phalanx of the 3rd toe", "partial duplication of the innermost bone of 3rd toe", "partial duplication of the proximal phalanx of the third toe" ], "HP:0100423": [ "partial duplication of the proximal phalanx of the 4th toe", "partial duplication of the innermost bone of 4th toe" ], "HP:0100424": [ "partial duplication of the proximal phalanx of the 5th toe", "partial duplication of the innermost bone of the little toe", "partial duplication of the innermost bone of the pinkie toe", "partial duplication of the innermost bone of the pinky toe", "partial duplication of the proximal phalanx of the fifth toe" ], "HP:0100425": [ "broad middle phalanx of the 3rd toe", "broad middle 3rd toe bone" ], "HP:0100426": [ "broad middle phalanx of the 4th toe", "broad middle 4th toe bone" ], "HP:0100427": [ "broad middle phalanx of the 5th toe", "broad middle bone of the little toe", "broad middle bone of the pinkie toe", "broad middle bone of the pinky toe" ], "HP:0100428": [ "broad proximal phalanx of the 3rd toe", "wide innermost bone of 3rd toe" ], "HP:0100429": [ "broad proximal phalanx of the 4th toe", "wide innermost bone of 4th toe" ], "HP:0100430": [ "broad proximal phalanx of the 5th toe", "broad innermost bone of the little toe", "broad innermost bone of the pinkie toe", "broad innermost bone of the pinky toe" ], "HP:0100431": [ "broad distal phalanx of the 3rd toe", "broad outermost bone of the 3rd toe", "wide outermost bone of the 3rd toe" ], "HP:0100432": [ "broad distal phalanx of the 4th toe", "broad outermost bone of the 4th toe", "wide outermost bone of the 4th toe" ], "HP:0100433": [ "broad distal phalanx of the 5th toe", "broad outermost bone of the 5th toe", "wide outermost bone of the little toe", "wide outermost bone of the pinkie toe", "wide outermost bone of the pinky toe" ], "HP:0100434": [ "bullet - shape middle phalanx of the 3rd toe", "bullet - shaped middle phalanx of the 3rd toe", "bullet - shape middle bone of the 3rd toe", "bullet - shaped middle bone of the 3rd toe" ], "HP:0100435": [ "bullet - shape middle phalanx of the 4th toe", "bullet - shaped middle phalanx of the 4th toe", "bullet - shape middle bone of the 4th toe", "bullet - shaped middle bone of the 4th toe" ], "HP:0100436": [ "bullet - shape middle phalanx of the 5th toe", "bullet - shaped middle phalanx of the 5th toe", "bullet - shape middle bone of the little toe", "bullet - shaped middle bone of the little toe", "bullet - shape middle bone of the pinkie toe", "bullet - shaped middle bone of the pinkie toe", "bullet - shape middle bone of the pinky toe", "bullet - shaped middle bone of the pinky toe" ], "HP:0100437": [ "bullet - shape proximal phalanx of the 3rd toe", "bullet - shaped proximal phalanx of the 3rd toe", "bullet - shape proximal bone of the 3rd toe", "bullet - shaped proximal bone of the 3rd toe" ], "HP:0100438": [ "bullet - shape proximal phalanx of the 4th toe", "bullet - shaped proximal phalanx of the 4th toe", "bullet - shape proximal bone of the 4th toe", "bullet - shaped proximal bone of the 4th toe" ], "HP:0100439": [ "bullet - shape proximal phalanx of the 5th toe", "bullet - shaped proximal phalanx of the 5th toe", "bullet - shape innermost bone of little toe", "bullet - shaped innermost bone of little toe", "bullet - shape innermost bone of pinkie toe", "bullet - shaped innermost bone of pinkie toe", "bullet - shape innermost bone of pinky toe", "bullet - shaped innermost bone of pinky toe" ], "HP:0100440": [ "bullet - shaped distal phalanx of the 3rd toe", "bullet - shape outermost bone of the 3rd toe", "bullet - shaped outermost bone of the 3rd toe" ], "HP:0100441": [ "bullet - shaped distal phalanx of the 4th toe", "bullet - shape outermost bone of the 4th toe", "bullet - shaped outermost bone of the 4th toe" ], "HP:0100442": [ "bullet - shaped distal phalanx of the 5th toe", "bullet - shape outermost bone of the little toe", "bullet - shaped outermost bone of the little toe", "bullet - shape outermost bone of the pinkie toe", "bullet - shaped outermost bone of the pinkie toe", "bullet - shape outermost bone of the pinky toe", "bullet - shaped outermost bone of the pinky toe" ], "HP:0100443": [ "curve middle phalanx of the 3rd toe", "curved middle phalanx of the 3rd toe", "curve middle bone of 3rd toe", "curved middle bone of 3rd toe" ], "HP:0100444": [ "curve middle phalanx of the 4th toe", "curved middle phalanx of the 4th toe", "curve middle bone of 4th toe", "curved middle bone of 4th toe" ], "HP:0100445": [ "curve middle phalanx of the 5th toe", "curved middle phalanx of the 5th toe", "curve middle bone of little toe", "curved middle bone of little toe", "curve middle bone of pinkie toe", "curved middle bone of pinkie toe", "curve middle bone of pinky toe", "curved middle bone of pinky toe" ], "HP:0100446": [ "curve proximal phalanx of the 3rd toe", "curved proximal phalanx of the 3rd toe", "curve innermost bone of 3rd toe", "curved innermost bone of 3rd toe" ], "HP:0100447": [ "curve proximal phalanx of the 4th toe", "curved proximal phalanx of the 4th toe", "curve innermost bone of the 4th toe", "curved innermost bone of the 4th toe" ], "HP:0100448": [ "curve proximal phalanx of the 5th toe", "curved proximal phalanx of the 5th toe", "curve innermost little toe bone", "curved innermost little toe bone", "curve innermost pinkie toe bone", "curved innermost pinkie toe bone", "curve innermost pinky toe bone", "curved innermost pinky toe bone" ], "HP:0100449": [ "curve distal phalanx of the 3rd toe", "curved distal phalanx of the 3rd toe", "curve outermost bone of the 3rd toe", "curved outermost bone of the 3rd toe" ], "HP:0100450": [ "curve distal phalanx of the 4th toe", "curved distal phalanx of the 4th toe", "curve outermost bone of the 4th toe", "curved outermost bone of the 4th toe" ], "HP:0100451": [ "curve distal phalanx of the 5th toe", "curved distal phalanx of the 5th toe", "curve outermost bone of the little toe", "curved outermost bone of the little toe", "curve outermost bone of the pinkie toe", "curved outermost bone of the pinkie toe", "curve outermost bone of the pinky toe", "curved outermost bone of the pinky toe" ], "HP:0100452": [ "osteolytic defect of the middle phalanx of the 3rd toe", "osteolytic defects of the middle phalanx of the 3rd toe" ], "HP:0100453": [ "osteolytic defect of the middle phalanx of the 4th toe", "osteolytic defects of the middle phalanx of the 4th toe" ], "HP:0100454": [ "osteolytic defect of the middle phalanx of the 5th toe", "osteolytic defects of the middle phalanx of the 5th toe" ], "HP:0100455": [ "osteolytic defect of the proximal phalanx of the 3rd toe", "osteolytic defects of the proximal phalanx of the 3rd toe" ], "HP:0100456": [ "osteolytic defect of the proximal phalanx of the 4th toe", "osteolytic defects of the proximal phalanx of the 4th toe" ], "HP:0100457": [ "osteolytic defect of the proximal phalanx of the 5th toe", "osteolytic defects of the proximal phalanx of the 5th toe" ], "HP:0100458": [ "osteolytic defect of the distal phalanx of the 3rd toe", "osteolytic defects of the distal phalanx of the 3rd toe", "osteolytic defect of the outermost bone of the 3rd toe", "osteolytic defects of the outermost bone of the 3rd toe" ], "HP:0100459": [ "osteolytic defect of the distal phalanx of the 4th toe", "osteolytic defects of the distal phalanx of the 4th toe", "osteolytic defect of the outermost bone of the 4th toe", "osteolytic defects of the outermost bone of the 4th toe" ], "HP:0100460": [ "osteolytic defect of the distal phalanx of the 5th toe", "osteolytic defects of the distal phalanx of the 5th toe", "osteolytic defect of the outermost bone of the 5th toe", "osteolytic defects of the outermost bone of the 5th toe" ], "HP:0100461": [ "patchy sclerosis of the middle phalanx of the 3rd toe", "uneven increase in bone density in the middle bone of the 3rd toe" ], "HP:0100462": [ "patchy sclerosis of the middle phalanx of the 4th toe", "uneven increase in bone density in middle bone of the 4th toe" ], "HP:0100463": [ "patchy sclerosis of the middle phalanx of the 5th 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 pinky toe" ], "HP:0100464": [ "patchy sclerosis of the proximal phalanx of the 3rd toe", "uneven increase in bone density in the innermost bone of the 3rd toe" ], "HP:0100465": [ "patchy sclerosis of the proximal phalanx of the 4th toe", "uneven increase in bone density in the innermost bone of the 4th toe" ], "HP:0100466": [ "patchy sclerosis of the proximal phalanx of the 5th 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 pinky toe" ], "HP:0100467": [ "patchy sclerosis of the distal phalanx of the 3rd toe", "uneven increase in bone density in the outermost bone of the 3rd toe" ], "HP:0100468": [ "patchy sclerosis of the distal phalanx of the 4th toe", "uneven increase in bone density in the outermost bone of the 4th toe" ], "HP:0100469": [ "patchy sclerosis of the distal phalanx of the 5th toe", "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 pinky toe bone" ], "HP:0100470": [ "symphalangism affect the middle phalanx of the 3rd toe", "symphalangism affecting the middle phalanx of the 3rd toe", "fuse middle bone of 3rd toe", "fused middle bones of 3rd toe" ], "HP:0100471": [ "symphalangism affect the middle phalanx of the 4th toe", "symphalangism affecting the middle phalanx of the 4th toe", "fuse middle bone of 4th toe", "fused middle bones of 4th toe" ], "HP:0100472": [ "symphalangism affect the middle phalanx of the 5th toe", "symphalangism affecting the middle phalanx of the 5th toe", "fuse middle bone of 5th toe", "fused middle bones of 5th toe" ], "HP:0100473": [ "symphalangism affect the proximal phalanx of the 3rd toe", "symphalangism affecting the proximal phalanx of the 3rd toe", "fuse innermost bone of 3rd toe", "fused innermost bone of 3rd toe" ], "HP:0100474": [ "symphalangism affect the proximal phalanx of the 4th toe", "symphalangism affecting the proximal phalanx of the 4th toe", "fuse innermost bone of 4th toe", "fused innermost bones of 4th toe" ], "HP:0100475": [ "symphalangism affect the proximal phalanx of the 5th toe", "symphalangism affecting the proximal phalanx of the 5th toe", "fuse innermost bone of little toe", "fused innermost bone of little toe", "fuse innermost bone of pinkie toe", "fused innermost bone of pinkie toe", "fuse innermost bone of pinky toe", "fused innermost bone of pinky toe" ], "HP:0100476": [ "symphalangism affect the distal phalanx of the 3rd toe", "symphalangism affecting the distal phalanx of the 3rd toe", "fuse outermost bone of 3rd toe", "fused outermost bone of 3rd toe" ], "HP:0100477": [ "symphalangism affect the distal phalanx of the 4th toe", "symphalangism affecting the distal phalanx of the 4th toe", "fuse outermost bone of the 4th toe", "fused outermost bone of the 4th toe" ], "HP:0100478": [ "symphalangism affect the distal phalanx of the 5th toe", "symphalangism affecting the distal phalanx of the 5th toe", "fuse outermost bone of the little toe", "fused outermost bones of the little toe", "fuse outermost bone of the pinkie toe", "fused outermost bones of the pinkie toe", "fuse outermost bone of the pinky toe", "fused outermost bones of the pinky toe" ], "HP:0100480": [ "proximal / middle symphalangism of 3rd toe", "fuse innermost and middle bone of 3rd toe", "fused innermost and middle bones of 3rd toe", "symphalangism of the middle and proximal phalanx of the 3rd toe", "symphalangism of the middle and proximal phalanges of the 3rd toe" ], "HP:0100481": [ "proximal / middle symphalangism of 4th toe", "fuse innermost and middle bone of 4th toe", "fused innermost and middle bones of 4th toe", "symphalangism of the middle and proximal phalanx of the 4th toe", "symphalangism of the middle and proximal phalanges of the 4th toe" ], "HP:0100482": [ "proximal / middle symphalangism of 5th toe", "fuse innermost and middle little toe bone", "fused innermost and middle little toe bones", "fuse innermost and middle pinkie toe bone", "fused innermost and middle pinkie toe bones", "fuse innermost and middle pinky toe bone", "fused innermost and middle pinky toe bones", "symphalangism of the middle and proximal phalanx of the 5th toe", "symphalangism of the middle and proximal phalanges of the 5th toe" ], "HP:0100483": [ "symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal", "fuse innermost bone of 2nd toe with the 2nd long bone of foot", "fused innermost bone of 2nd toe with the 2nd long bone of foot" ], "HP:0100484": [ "symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal", "fuse innermost bone of third toe with 3rd long bone of foot", "fused innermost bones of third toe with 3rd long bone of foot" ], "HP:0100485": [ "symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal", "fuse innermost bone of the 4th toe with 4th long bone of foot", "fused innermost bone of the 4th toe with 4th long bone of foot" ], "HP:0100486": [ "symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal", "fuse innermost pinky toe bone with the 5th long bone of foot", "fused innermost pinky toe bone with the 5th long bone of foot" ], "HP:0100487": [ "triangular shape distal phalanx of the 5th toe", "triangular shaped distal phalanx of the 5th toe", "triangular shape outermost bone of the little toe", "triangular shaped outermost bone of the little toe", "triangular shape outermost bone of the pinkie toe", "triangular shaped outermost bone of the pinkie toe", "triangular shape outermost bone of the pinky toe", "triangular shaped outermost bone of the pinky toe" ], "HP:0100488": [ "synostosis of the proximal phalanx of the hallux with the 1st metatarsal", "fusion of the innermost big toe bone with the 1st long bone of foot" ], "HP:0100489": [ "proximal / middle symphalangism of 2nd toe", "fuse middle and innermost bone of 2nd toe", "fused middle and innermost bones of 2nd toe", "symphalangism of the middle and proximal phalanx of the 2nd toe", "symphalangism of the middle and proximal phalanges of the 2nd toe" ], "HP:0100479": [ "proximal / middle symphalangism of 2nd toe", "fuse middle and innermost bone of 2nd toe", "fused middle and innermost bones of 2nd toe", "symphalangism of the middle and proximal phalanx of the 2nd toe", "symphalangism of the middle and proximal phalanges of the 2nd toe" ], "HP:0100490": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0005651": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0005662": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0005713": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0005801": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0005821": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0006195": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0006218": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0006240": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0009698": [ "camptodactyly of finger", "camptodactyly of hand", "camptodactyly of hands", "camptodactyly of proximal interphalangeal joint", "contracture of the proximal interphalangeal joint of the finger", "contractures of the proximal interphalangeal joints of the fingers", "flexion contracture of proximal interphalangeal joint", "flexion contractures of proximal interphalangeal joints", "permanent flexion of the finger", "proximal interphalangeal finger joint contracture", "proximal interphalangeal finger joint contractures" ], "HP:0100491": [ "abnormality of low limb joint", "abnormality of lower limb joint", "abnormality of the joint of the low limb", "abnormality of the joints of the lower limbs" ], "HP:0100239": [ "abnormality of low limb joint", "abnormality of lower limb joint", "abnormality of the joint of the low limb", "abnormality of the joints of the lower limbs" ], "HP:0100492": [ "joint contracture involve the joint of the foot", "joint contractures involving the joints of the feet" ], "HP:0100493": [ "hypoammonemia" ], "HP:0100494": [ "abnormal mast cell morphology", "abnormality of mast cell", "abnormality of mast cells", "abnormality of mastocyte", "abnormality of mastocytes" ], "HP:0100495": [ "mastocytosis" ], "HP:0100496": [ "abnormality of the vitamin b3 metabolism" ], "HP:0100497": [ "vitamin b3 deficiency" ], "HP:0100498": [ "deviation of toe", "deviation of toes" ], "HP:0100499": [ "tibial deviation of toe", "tibial deviation of toes", "medial deviation of toe", "medial deviation of toes" ], "HP:0100500": [ "fibular deviation of toe", "fibular deviation of toes", "lateral deviation of toe", "lateral deviation of toes" ], "HP:0100501": [ "recurrent bronchiolitis" ], "HP:0100502": [ "vitamin b12 deficiency" ], "HP:0100503": [ "low level of vitamin b1", "low levels of vitamin b1", "reduce blood thiamine level", "reduced blood thiamine level", "vitamin b1 deficiency" ], "HP:0100504": [ "low level of vitamin b2", "low levels of vitamin b2", "riboflavin deficiency", "vitamin b2 deficiency" ], "HP:0100505": [ "low level of vitamin b5", "low levels of vitamin b5", "vitamin b5 deficiency" ], "HP:0100506": [ "low level of vitamin b8", "low levels of vitamin b8", "vitamin b8 deficiency" ], "HP:0100507": [ "reduce blood folate concentration", "reduced blood folate concentration", "folate deficiency", "vitamin b9 deficiency" ], "HP:0100508": [ "abnormality of vitamin metabolism" ], "HP:0100509": [ "abnormality of vitamin c metabolism" ], "HP:0100510": [ "low level of vitamin c", "low levels of vitamin c", "vitamin c deficiency" ], "HP:0100511": [ "abnormality of vitamin d metabolism" ], "HP:0100512": [ "low level of vitamin d", "low levels of vitamin d", "deficient in vitamin d", "vitamin d deficiency" ], "HP:0100513": [ "low level of vitamin e", "low levels of vitamin e", "alpha - tocopherol deficiency", "vitamin e deficiency" ], "HP:0100514": [ "abnormality of vitamin e metabolism" ], "HP:0100515": [ "pollakisuria", "constant urination", "frequent urination" ], "HP:0100516": [ "neoplasm of the ureter", "neoplasia of the ureter", "neoplasia of the ureters", "ureter , cancer of" ], "HP:0100517": [ "neoplasm of the urethra", "neoplasia of the urethra" ], "HP:0100518": [ "dysuria", "dull burning sensation with urination", "painful or difficult urination" ], "HP:0100519": [ "anuria", "absent urine output" ], "HP:0100520": [ "oliguria" ], "HP:0100521": [ "neoplasm of the thymus" ], "HP:0100522": [ "thymoma" ], "HP:0100523": [ "obsolete hepatic abscess due to immunodeficiency", "obsolete hepatic abscesses due to immunodeficiency", "liver abscess", "hepatic abscess" ], "HP:0100524": [ "limb duplication", "dimelia" ], "HP:0100525": [ "urachus fistula" ], "HP:0100526": [ "neoplasm of the lung", "lung cancer", "lung tumor", "lung tumour" ], "HP:0100527": [ "neoplasia of the pleura" ], "HP:0100528": [ "pleuropulmonary blastoma" ], "HP:0100529": [ "abnormal blood phosphate concentration", "abnormality of phosphate homeostasis" ], "HP:0100530": [ "abnormal calcium - phosphate regulate hormone level", "abnormal calcium - phosphate regulating hormone level", "abnormal ca - phos regulate hormone level", "abnormal ca - phos regulating hormone level", "abnormal ca2+ po4 regulate hormone level", "abnormal ca2+ po4 regulating hormone level" ], "HP:0100531": [ "wind - swept deformity of the knee", "wind - swept deformity of the knees" ], "HP:0100532": [ "scleritis", "inflammation of the outer white part of the eye" ], "HP:0100533": [ "inflammatory abnormality of the eye", "ocular inflammation" ], "HP:0007891": [ "inflammatory abnormality of the eye", "ocular inflammation" ], "HP:0100534": [ "episcleritis", "inflammation of the thin layer on top of the white part of eye" ], "HP:0100535": [ "tibiofibular diastasis" ], "HP:0100536": [ "abnormality of the fascia" ], "HP:0100537": [ "fasciitis", "inflammation of the fascia" ], "HP:0100538": [ "abnormality of the supraorbital ridge", "abnormality of the supraorbital ridges", "abnormality of the brow of the face", "deformity of the supraorbital margin", "deformity of the supraorbital margins", "deformity of the supraorbital ridge", "deformity of the supraorbital ridges", "malformation of the supraorbital margin", "malformation of the supraorbital margins", "malformation of the supraorbital ridge", "malformation of the supraorbital ridges" ], "HP:0100539": [ "periorbital edema", "periorbital cellulitis", "periorbital oedema" ], "HP:0100540": [ "palpebral edema", "edema of the eyelid", "edema of the eyelids", "eyelid edema", "eyelid oedema", "fullness of eyelid", "fullness of eyelids", "oedema of the eyelid", "oedema of the eyelids", "palpebral oedema", "puffy eyelid", "puffy eyelids", "puffy lid", "puffy lids", "swell of eyelid", "swelling of eyelids" ], "HP:0000626": [ "palpebral edema", "edema of the eyelid", "edema of the eyelids", "eyelid edema", "eyelid oedema", "fullness of eyelid", "fullness of eyelids", "oedema of the eyelid", "oedema of the eyelids", "palpebral oedema", "puffy eyelid", "puffy eyelids", "puffy lid", "puffy lids", "swell of eyelid", "swelling of eyelids" ], "HP:0100541": [ "femoral hernia", "crural hernia" ], "HP:0100542": [ "abnormal localization of kidney", "abnormal localisation of kidney", "abnormal localisation of kidneys" ], "HP:0100543": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0002128": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0002129": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0002302": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0002337": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0002441": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0006972": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0006998": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0007211": [ "cognitive impairment", "abnormality of cognition", "cognitive abnormality", "cognitive defect", "cognitive defects", "cognitive deficit", "cognitive deficits", "intellectual impairment" ], "HP:0100544": [ "neoplasm of the heart", "cardiac neoplasia", "cardiac neoplasm", "heart tumor", "heart tumour" ], "HP:0100545": [ "arterial stenosis", "narrowing of an artery" ], "HP:0100546": [ "carotid artery stenosis", "carotid stenosis", "narrowing of carotid artery" ], "HP:0100547": [ "abnormality of forebrain morphology", "abnormal shape of forebrain", "abnormality of the forebrain" ], "HP:0100548": [ "exstrophy" ], "HP:0100550": [ "tendon rupture", "rupture of tendon", "rupture of tendons", "rupture tendon", "ruptured tendon", "tendon / muscle rupture" ], "HP:0100551": [ "obsolete tracheal neoplasm", "neoplasm of the trachea", "tracheal neoplasm" ], "HP:0100552": [ "neoplasm of the tracheobronchial system" ], "HP:0100553": [ "hemihypertrophy of low limb", "hemihypertrophy of lower limb", "overgrowth of one leg" ], "HP:0100554": [ "hemihypertrophy of upper limb", "overgrowth of one arm" ], "HP:0100555": [ "asymmetric growth", "uneven or disproportionate growth of one body part compare to another", "uneven or disproportionate growth of one body part compared to another" ], "HP:0100556": [ "hemiatrophy", "asymmetric limb shorten", "asymmetric limb shortening", "hemiatrophy of the body" ], "HP:0005091": [ "hemiatrophy", "asymmetric limb shorten", "asymmetric limb shortening", "hemiatrophy of the body" ], "HP:0200051": [ "hemiatrophy", "asymmetric limb shorten", "asymmetric limb shortening", "hemiatrophy of the body" ], "HP:0100557": [ "hemiatrophy of low limb", "hemiatrophy of lower limb", "asymmetric low limb shorten", "asymmetric lower limb shortening" ], "HP:0100558": [ "hemiatrophy of upper limb", "asymmetric upper limb shorten", "asymmetric upper limb shortening", "hemihypotrophy of upper limb" ], "HP:0200052": [ "hemiatrophy of upper limb", "asymmetric upper limb shorten", "asymmetric upper limb shortening", "hemihypotrophy of upper limb" ], "HP:0100559": [ "low limb asymmetry", "lower limb asymmetry", "left and right leg differ in length or width", "leg length discrepancy" ], "HP:0100560": [ "upper limb asymmetry", "unequal size of arm", "unequal size of arms" ], "HP:0100561": [ "spinal cord lesion" ], "HP:0100562": [ "diplomyelia", "duplication of spinal cord" ], "HP:0100563": [ "diastomatomyelia" ], "HP:0100564": [ "triplomyelia", "triplication of spinal cord" ], "HP:0100565": [ "hydromyelia" ], "HP:0100566": [ "amyelia", "absent spinal cord" ], "HP:0100568": [ "neoplasm of the endocrine system", "endocrine neoplasia" ], "HP:0100569": [ "abnormally ossify vertebra", "abnormally ossified vertebrae", "abnormal bone maturation of vertebra", "abnormal vertebral ossification", "abnormality of ossification / mineralisation of vertebra", "abnormality of ossification / mineralisation of vertebrae" ], "HP:0100570": [ "carcinoid tumor", "carcinoid", "carcinoid tumors", "carcinoid tumour", "carcinoid tumours" ], "HP:0100571": [ "cardiac diverticulum", "ventricular diverticulum" ], "HP:0100572": [ "fibrous cardiac diverticulum", "congenital ventricular aneurysm" ], "HP:0100573": [ "muscular cardiac diverticulum" ], "HP:0100574": [ "obsolete biliary tract neoplasm", "biliary tract neoplasm", "neoplasia of the biliary tract" ], "HP:0100575": [ "neoplasm of the gallbladder", "neoplasia of the gallbladder" ], "HP:0100576": [ "amaurosis fugax" ], "HP:0100577": [ "urinary bladder inflammation", "cystitis of the urinary bladder" ], "HP:0100578": [ "lipoatrophy", "atrophy of fat", "loss of fat tissue in localised area", "loss of fat tissue in localized area" ], "HP:0100579": [ "mucosal telangiectasiae" ], "HP:0100580": [ "barrett esophagus", "barret syndrome", "barrett oesophagus", "barrett 's esophagus", "barrett 's oesophagus", "endobrachyesophagus" ], "HP:0100581": [ "dilatation of renal calices", "caliceal dilatation", "caliectasis", "megacalicosis" ], "HP:0100582": [ "nasal polyposis", "nasal polyp", "nasal polyps", "polyposis nasi", "polys of nose" ], "HP:0000462": [ "nasal polyposis", "nasal polyp", "nasal polyps", "polyposis nasi", "polys of nose" ], "HP:0100583": [ "corneal perforation", "iridocele" ], "HP:0100793": [ "corneal perforation", "iridocele" ], "HP:0100584": [ "endocarditis" ], "HP:0100585": [ "telangiectasia of the skin", "teleangiectasia of the skin" ], "HP:0100586": [ "sterile pyuria", "aseptic leukocyturia" ], "HP:0100587": [ "abnormal preputium morphology", "abnormality of the preputium" ], "HP:0100588": [ "paraphimosis" ], "HP:0100589": [ "urogenital fistula" ], "HP:0100590": [ "rectal fistula" ], "HP:0100592": [ "peritoneal abscess" ], "HP:0100593": [ "calcification of cartilage" ], "HP:0100594": [ "esophageal web" ], "HP:0100595": [ "camptocormia" ], "HP:0100596": [ "absent naris", "absent nares", "abouphalia", "aplasia of the naris", "aplasia of the nares", "aplasia / hypoplasia of the naris", "aplasia / hypoplasia of the nares", "miss nostril", "missing nostrils" ], "HP:0100597": [ "absent naris", "absent nares", "abouphalia", "aplasia of the naris", "aplasia of the nares", "aplasia / hypoplasia of the naris", "aplasia / hypoplasia of the nares", "miss nostril", "missing nostrils" ], "HP:0100598": [ "pulmonary edema", "excess fluid in lung", "excess fluid in lungs", "lung edema", "lung oedema", "pulmonary oedema", "wet lung" ], "HP:0100599": [ "bifid penis", "diphallia", "penile duplication" ], "HP:0100600": [ "penoscrotal transposition", "prepenile scrotum" ], "HP:0100601": [ "eclampsia" ], "HP:0100602": [ "preeclampsia", "pre - eclampsia" ], "HP:0100603": [ "toxemia of pregnancy", "hypertensive disorder of pregnancy", "toxaemia of pregnancy" ], "HP:0100604": [ "neoplasm of the lip", "lip tumor", "lip tumour", "neoplasia of the lip", "tumor of the lip", "tumour of the lip" ], "HP:0100605": [ "neoplasm of the larynx" ], "HP:0100606": [ "neoplasm of the respiratory system", "respiratory system tumor", "respiratory system tumour" ], "HP:0100607": [ "dysmenorrhea", "painful menstruation" ], "HP:0100608": [ "metrorrhagia", "abnormal uterus bleeding", "intermenstrual bleeding", "menstrual spotting" ], "HP:0100610": [ "maternal hyperphenylalaninemia", "high blood phenylalanine level in mother" ], "HP:0100611": [ "multiple glomerular cyst", "multiple glomerular cysts", "glomerulocystic kidney disease" ], "HP:0100612": [ "odontogenic neoplasm", "odontogenic tumor", "odontogenic tumour" ], "HP:0100613": [ "death in early adulthood" ], "HP:0100614": [ "myositis", "muscle inflammation" ], "HP:0100615": [ "ovarian neoplasm", "neoplasm of the ovary", "neoplasm of the ovaries", "ovarian cancer", "ovarian neoplasia", "ovarian tumor", "ovarian tumour" ], "HP:0100616": [ "testicular teratoma" ], "HP:0100617": [ "testicular seminoma" ], "HP:0100618": [ "leydig cell neoplasia" ], "HP:0100619": [ "sertoli cell neoplasm", "sertoli cell neoplasia" ], "HP:0100620": [ "germinoma" ], "HP:0100621": [ "dysgerminoma" ], "HP:0100622": [ "maternal seizure", "maternal seizures" ], "HP:0100623": [ "abnormality of corpus cavernosum" ], "HP:0100624": [ "corpus cavernosum sclerosis" ], "HP:0100625": [ "enlarge thorax", "enlarged thorax", "wide rib cage", "wide thorax" ], "HP:0100626": [ "chronic hepatic failure", "chronic liver failure" ], "HP:0100627": [ "displacement of the urethral meatus", "displacement of the external urethral orifice", "displacement of the male external urethral orifice" ], "HP:0100628": [ "esophageal diverticulum", "esophageal pouch" ], "HP:0100629": [ "midline facial cleft" ], "HP:0100630": [ "neoplasia of the nasopharynx", "nasopharyngeal neoplasm", "neoplasm of the nasopharynx", "tumor of the nasopharynx", "tumour of the nasopharynx" ], "HP:0100631": [ "neoplasm of the adrenal gland", "adrenal neoplasia" ], "HP:0100632": [ "pulmonary sequestration", "cystic lung lesion" ], "HP:0100633": [ "esophagitis", "inflammation of the esophagus", "inflammation of the oesophagus", "oesophagitis" ], "HP:0100634": [ "neuroendocrine neoplasm", "neuroendocrine neoplasia" ], "HP:0100635": [ "carotid paraganglioma" ], "HP:0100636": [ "pulmonary paraglioma" ], "HP:0100638": [ "obsolete pharyngeal neoplasm", "neoplasm of the pharynx", "neoplasia of the pharynx", "pharyngeal neoplasm", "tumor of the pharynx", "tumour of the pharynx" ], "HP:0100639": [ "erectile dysfunction", "abnormal erection", "erectile abnormality", "erectile abnormalities" ], "HP:0100640": [ "laryngeal cyst" ], "HP:0100641": [ "neoplasm of the adrenal cortex", "cortical adrenal neoplasia" ], "HP:0100642": [ "neoplasm of the adrenal medulla", "medullar adrenal neoplasia" ], "HP:0100643": [ "abnormality of nail color", "abnormality of nail colour", "nail dyschromia" ], "HP:0100644": [ "melanonychia" ], "HP:0100645": [ "cystocele", "bladder hernia", "bladder prolapse", "drop bladder", "dropped bladder", "prolapse bladder", "prolapsed bladder" ], "HP:0100646": [ "thyroiditis", "thyroid gland inflammation" ], "HP:0100647": [ "graf disease", "graves disease", "morbus basedow" ], "HP:0100648": [ "neoplasm of the tongue" ], "HP:0100649": [ "neoplasm of the oral cavity", "lesion of oral cavity", "tumor of oral cavity", "tumour of oral cavity" ], "HP:0100650": [ "vaginal neoplasm", "vaginal neoplasia", "vaginal tumor", "vaginal tumour" ], "HP:0100651": [ "type i diabetes mellitus", "diabetes mellitus type i", "insulin - dependent diabetes mellitus", "juvenile diabetes mellitus", "type 1 diabetes", "type i diabetes" ], "HP:0100653": [ "optic neuritis" ], "HP:0100654": [ "retrobulbar optic neuritis", "retrobulbar neuritis" ], "HP:0100656": [ "thoracoabdominal wall defect", "thoracoabdominal schisis" ], "HP:0100657": [ "thoracoabdominal eventration", "celosomia", "kelosomia" ], "HP:0100658": [ "obsolete cellulitis due to immunodeficiency", "cellulitis", "bacterial infection of skin", "skin infection", "skin infections" ], "HP:0100659": [ "abnormal cerebral vascular morphology", "abnormality of the cerebral blood vessel", "abnormality of the cerebral blood vessels", "abnormality of the cerebral vasculature" ], "HP:0100660": [ "dyskinesia", "disorder of involuntary muscle movement", "disorder of involuntary muscle movements", "dyskinesias", "dyskinesis" ], "HP:0100661": [ "trigeminal neuralgia", "tic douloureux" ], "HP:0100662": [ "chondritis", "cartilage inflammation" ], "HP:0100663": [ "synotia" ], "HP:0100665": [ "angioedema", "angioneurotic oedema", "angiooedema", "quincke edema", "quincke oedema" ], "HP:0100666": [ "angioedema", "angioneurotic oedema", "angiooedema", "quincke edema", "quincke oedema" ], "HP:0100668": [ "intestinal duplication", "bowel duplication", "gut duplication" ], "HP:0100669": [ "abnormal pigmentation of the oral mucosa", "abnormal color of the oral mucosa", "abnormal colour of the oral mucosa", "abnormal pigmentation of oral cavity", "abnormal pigmentation of oral mucous membrane", "abnormal pigmentation of the oral mucosa / gingiva", "abnormal pigmentation of the oral mucosa / gingivae" ], "HP:0100670": [ "coarse metaphyseal trabecularization", "coarse trabeculation at metaphyses", "rough bone trabeculation", "rough trabeculation of bone" ], "HP:0100671": [ "abnormal trabecular bone morphology", "abnormal shape of spongy bone", "abnormality of bone trabeculation" ], "HP:0100672": [ "vaginal hernia" ], "HP:0100673": [ "vaginal hydrocele" ], "HP:0100674": [ "vaginal hematocele" ], "HP:0100675": [ "vaginal pyocele" ], "HP:0100676": [ "vaginal lymphocele" ], "HP:0100677": [ "vulval varicose vein" ], "HP:0100678": [ "premature skin wrinkling", "wrinkle skin", "wrinkled skin" ], "HP:0200074": [ "premature skin wrinkling", "wrinkle skin", "wrinkled skin" ], "HP:0100679": [ "lack of skin elasticity", "tight skin" ], "HP:0100681": [ "esophageal duplication" ], "HP:0100682": [ "tracheal atresia" ], "HP:0100684": [ "salivary gland neoplasm", "cancer of salivary gland", "salivary gland neoplasia", "tumor of salivary gland", "tumour of salivary gland" ], "HP:0100685": [ "abnormal sharpey fiber morphology", "abnormal sharpey fibre morphology", "abnormality of sharpey fiber", "abnormality of sharpey fibers", "abnormality of sharpey fibre", "abnormality of sharpey fibres", "enthesis abnormality" ], "HP:0100686": [ "enthesitis", "inflammation of sharpey fiber", "inflammation of sharpey fibers", "inflammation of sharpey fibre", "inflammation of sharpey fibres" ], "HP:0100687": [ "polyotia" ], "HP:0100689": [ "decrease corneal thickness", "decreased corneal thickness", "thin cornea" ], "HP:0100690": [ "mosaic central corneal dystrophy" ], "HP:0100691": [ "abnormality of the curvature of the cornea" ], "HP:0100692": [ "increase corneal curvature", "increased corneal curvature", "steep corneal curvature" ], "HP:0100693": [ "iridodonesis" ], "HP:0100694": [ "tibial torsion" ], "HP:0100695": [ "lipedema" ], "HP:0100697": [ "neurofibrosarcoma", "malignant peripheral nerve sheath tumor", "malignant peripheral nerve sheath tumour", "malignant schwannoma", "neurosarcoma" ], "HP:0100698": [ "subcutaneous neurofibroma", "subcutaneous neurofibromas" ], "HP:0100699": [ "scar", "scarring", "scar tissue" ], "HP:0100700": [ "abnormal arachnoid mater morphology", "abnormality of the arachnoid mater", "abnormality of the arachnoidea" ], "HP:0100701": [ "abnormal pia mater", "abnormality of the pia mater" ], "HP:0100702": [ "arachnoid cyst", "arachnoid cysts", "fluid - fill sac locate in membrane surround brain or spinal cord", "fluid - filled sac located in membrane surrounding brain or spinal cord" ], "HP:0100703": [ "tongue thrusting" ], "HP:0100704": [ "cerebral visual impairment", "cortical blindness", "cortical visual impairment", "cortical / cerebral visual impairment" ], "HP:0000595": [ "cerebral visual impairment", "cortical blindness", "cortical visual impairment", "cortical / cerebral visual impairment" ], "HP:0100705": [ "abnormal glial cell morphology", "abnormality of the glial cell", "abnormality of the glial cells" ], "HP:0100706": [ "abnormal oligodendroglia morphology", "abnormality of the oligodendroglia" ], "HP:0100707": [ "abnormal astrocyte morphology", "abnormality of the astrocyte", "abnormality of the astrocytes" ], "HP:0100708": [ "abnormal microglia morphology", "abnormality of the microglia" ], "HP:0100709": [ "reduction of oligodendroglia" ], "HP:0100710": [ "impulsivity", "impulsive" ], "HP:0100711": [ "abnormal thoracic spine morphology", "abnormality of the thoracic spine" ], "HP:0100712": [ "abnormal lumbar spine morphology", "abnormality of the lumbar spine" ], "HP:0100716": [ "self - injurious behavior", "autoagression", "self injury", "self - harm", "self - injurious behaviors", "self - injurious behaviour", "self - injurious behaviours" ], "HP:0100717": [ "abnormal cementum morphology", "abnormality of the cementum" ], "HP:0100718": [ "uterine rupture" ], "HP:0100719": [ "lens coloboma" ], "HP:0100720": [ "hypoplasia of the ear cartilage", "underdeveloped ear cartilage" ], "HP:0100721": [ "mediastinal lymphadenopathy", "swollen lymph node in center of chest", "swollen lymph nodes in center of chest", "swollen lymph node in centre of chest", "swollen lymph nodes in centre of chest" ], "HP:0100723": [ "gastrointestinal stroma tumor", "gastrointestinal stroma tumour", "gastrointestinal stromal tumor", "gastrointestinal stromal tumors", "gastrointestinal stromal tumour", "gastrointestinal stromal tumours", "gi stroma tumor", "gi stroma tumour" ], "HP:0100724": [ "hypercoagulability", "blood hyperviscosity", "thrombophilia" ], "HP:0100725": [ "lichenification" ], "HP:0100726": [ "kaposi 's sarcoma" ], "HP:0100727": [ "histiocytosis" ], "HP:0100728": [ "germ cell neoplasia" ], "HP:0100729": [ "large face", "big face", "large facies" ], "HP:0100730": [ "bronchogenic cyst" ], "HP:0100731": [ "transverse facial cleft", "lateral facial cleft" ], "HP:0100732": [ "pancreatic fibrosis" ], "HP:0100733": [ "neoplasm of the parathyroid gland", "parathyroid neoplasia" ], "HP:0100734": [ "abnormality of vertebral epiphysis morphology", "abnormal shape of the end part of the vertebra bone", "abnormality of the vertebral epiphysis", "abnormality of the vertebral epiphyses" ], "HP:0100735": [ "hypertensive crisis" ], "HP:0100736": [ "abnormal soft palate morphology", "abnormality of the muscular palate", "abnormality of the soft palate", "abnormality of the velum", "abnormality of the velum palatinum" ], "HP:0100737": [ "abnormal hard palate morphology", "abnormality of the hard palate", "abnormality of the secondary palate" ], "HP:0100738": [ "abnormal eat behavior", "abnormal eating behavior", "abnormal eat behaviour", "abnormal eating behaviour" ], "HP:0100739": [ "bulimia", "binge and purge" ], "HP:0100742": [ "vascular neoplasm", "blood vessel tumor", "blood vessel tumour" ], "HP:0100743": [ "neoplasm of the rectum", "rectal tumor", "rectal tumour" ], "HP:0100744": [ "abnormality of the humeroradial joint" ], "HP:0100745": [ "abnormality of the humeroulnar joint" ], "HP:0100746": [ "macrodactyly of finger", "macrodactyly of hand", "macrodactyly of hands" ], "HP:0100747": [ "macrodactyly of toe", "foot macrodactyly" ], "HP:0100748": [ "muscular edema", "muscular oedema" ], "HP:0100749": [ "chest pain", "chest discomfort", "thoracic pain" ], "HP:0100750": [ "atelectasis", "partial or complete collapse of part or entire lung", "pulmonary atelectasis" ], "HP:0100751": [ "esophageal neoplasm", "esophageal tumor", "esophageal tumour" ], "HP:0100752": [ "abnormal liver lobulation", "anomalous liver lobulation", "hepatic anomalous lobulation" ], "HP:0100753": [ "schizophrenia" ], "HP:0100754": [ "mania", "manic" ], "HP:0100755": [ "abnormality of salivation", "abnormal spit" ], "HP:0100757": [ "pancreatoblastoma" ], "HP:0100758": [ "gangrene", "death of body tissue due to lack of blood flow or infection" ], "HP:0100759": [ "clubbing of finger", "clubbing of fingers", "clubbed finger", "clubbed fingers", "clubbing ( hand )", "clubbing ( hands )", "finger club", "finger clubbing" ], "HP:0100760": [ "clubbing of toe", "clubbing of toes", "clubbed toe", "clubbed toes" ], "HP:0100761": [ "visceral angiomatosis" ], "HP:0100762": [ "hemobilia", "haemobilia" ], "HP:0100763": [ "abnormality of the lymphatic system", "lymphatic disease" ], "HP:0003012": [ "abnormality of the lymphatic system", "lymphatic disease" ], "HP:0100764": [ "lymphangioma" ], "HP:0100765": [ "abnormality of the tonsil", "abnormality of the tonsils" ], "HP:0100766": [ "abnormal lymphatic vessel morphology", "abnormality of the lymphatic vessel", "abnormality of the lymphatic vessels" ], "HP:0100767": [ "abnormal placenta morphology", "abnormality of the placenta", "placental issue" ], "HP:0100768": [ "choriocarcinoma" ], "HP:0100769": [ "synovitis" ], "HP:0100770": [ "hyperperistalsis", "stomach churn", "stomach churning" ], "HP:0100771": [ "hypoperistalsis", "intestinal hypoperistalsis" ], "HP:0100773": [ "cartilage destruction" ], "HP:0100774": [ "hyperostosis", "bone hypertrophy", "bone overgrowth" ], "HP:0100775": [ "dural ectasia" ], "HP:0100776": [ "recurrent pharyngitis", "pharyngitis , recurrent", "recurrent sore throat" ], "HP:0100777": [ "exostosis", "exostoses", "formation of new noncancerous bone on top of exist bone", "formation of new noncancerous bone on top of existing bone" ], "HP:0100778": [ "cryoglobulinemia", "cryoprecipitable immune complex", "cryoprecipitable immune complexes" ], "HP:0100779": [ "urogenital sinus anomaly" ], "HP:0100780": [ "conjunctival hamartoma" ], "HP:0100781": [ "abnormal sacroiliac joint morphology", "abnormality of the sacroiliac joint" ], "HP:0100783": [ "breast aplasia", "absent breast", "congenital absence of breast", "mammary gland aplasia" ], "HP:0100784": [ "peripheral arteriovenous fistula" ], "HP:0100785": [ "insomnia", "difficulty stay or fall asleep", "difficulty staying or falling asleep", "fragment sleep", "fragmented sleep" ], "HP:0100786": [ "hypersomnia", "excessive sleepiness" ], "HP:0100787": [ "prostate neoplasm" ], "HP:0100788": [ "fuse lip", "fused lips", "adhesion of upper and low lip", "adhesion of upper and lower lips", "fusion of upper and low lip", "fusion of upper and lower lips" ], "HP:0100789": [ "torus palatinus", "maxillary torus", "palatal torus", "palatal tori", "palate exostosis", "palate exostoses", "prominent midpalatal ridge" ], "HP:0100790": [ "hernia", "hernias" ], "HP:0100792": [ "acantholysis", "nikolsky 's sign" ], "HP:0100795": [ "abnormally straight spine" ], "HP:0100796": [ "orchitis", "inflammation of testicle", "inflammation of testicles" ], "HP:0100797": [ "toenail dysplasia", "abnormal toenail development", "dysplastic toenail", "dysplastic toenails" ], "HP:0100798": [ "fingernail dysplasia", "abnormal fingernail development", "dysplastic fingernail", "dysplastic fingernails" ], "HP:0100799": [ "neoplasm of the middle ear", "middle ear tumor", "middle ear tumour", "neoplasia of the middle ear" ], "HP:0100800": [ "aplasia / hypoplasia of the pancreas", "absent / small pancreas", "absent / underdevelop pancreas", "absent / underdeveloped pancreas" ], "HP:0100801": [ "pancreatic aplasia", "absent pancreas" ], "HP:0100802": [ "malposition of the stomach", "abnormal stomach location", "gastric ectopia", "gastric malposition" ], "HP:0100803": [ "abnormality of the periungual region" ], "HP:0100804": [ "ungual fibroma", "koenen tumor", "koenen tumour", "koenen 's tumor", "koenen 's tumour", "parungual fibroma", "parungual fibromas", "periungual fibroma" ], "HP:0100806": [ "sepsis", "infection in blood stream" ], "HP:0100807": [ "long finger", "long fingers" ], "HP:0006010": [ "long finger", "long fingers" ], "HP:0100808": [ "gastric diverticulum", "stomach diverticulum" ], "HP:0100809": [ "scalp tenderness", "allodynia of scalp", "scalp hypersensitivity", "scalp pain" ], "HP:0100810": [ "point helix", "pointed helix", "elfin ear", "point ear", "pointed ear", "spock ear", "spock 's ear", "vulcan ear" ], "HP:0100811": [ "aplasia / hypoplasia of the colon", "absent / small colon", "absent / underdevelop colon", "absent / underdeveloped colon" ], "HP:0100812": [ "halitosis", "bad breath", "foetor ex ore" ], "HP:0100813": [ "testicular torsion", "spermatic cord torsion" ], "HP:0100814": [ "blue nevus", "congenital dermal melanocytosis", "mongolian spot" ], "HP:0100816": [ "lip hyperpigmentation", "darkening of skin of the lip", "darkening of skin of the lips", "hyperpigmentation of lip vermillion", "increase pigmentation on the lip", "increased pigmentation on the lips" ], "HP:0100817": [ "renovascular hypertension", "hypertension due to renal artery hyperplasia" ], "HP:0008741": [ "renovascular hypertension", "hypertension due to renal artery hyperplasia" ], "HP:0100818": [ "long thorax", "long rib cage" ], "HP:0100819": [ "intestinal fistula" ], "HP:0100820": [ "glomerulopathy", "diseased glomerulus", "diseased glomeruli" ], "HP:0100821": [ "urethrocele" ], "HP:0100822": [ "rectocele" ], "HP:0100823": [ "genital hernia" ], "HP:0100825": [ "cheilitis", "inflammation of the lip", "inflammation of the lips", "red and sore lip", "red and sore lips" ], "HP:0100826": [ "neoplasm of the nail", "nail tumor", "nail tumour" ], "HP:0100827": [ "lymphocytosis", "high lymphocyte count" ], "HP:0012141": [ "lymphocytosis", "high lymphocyte count" ], "HP:0100828": [ "increase t cell count", "increased t cell count", "increase in t cell count", "increase in t cell number" ], "HP:0100829": [ "galactorrhea", "galactorrhoea", "spontaneous milk flow from breast" ], "HP:0100830": [ "round ear" ], "HP:0100831": [ "abnormality of vitamin k metabolism" ], "HP:0100832": [ "vitreous floater", "vitreous floaters", "eye floater", "eye floaters", "flit fly", "flitting flies", "mouches volantes", "myodeopsia", "myodesopsia", "spot in front of eye", "spots in front of eyes", "vitreous condensation", "vitreous condensations", "vitreous debris", "vitreous opacity", "vitreous opacities", "vitreous veil", "vitreous veils" ], "HP:0100833": [ "neoplasm of the small intestine", "small intestine tumor", "small intestine tumour" ], "HP:0100834": [ "neoplasm of the large intestine", "large intestine tumor", "large intestine tumour" ], "HP:0100835": [ "benign neoplasm of the central nervous system", "benign neoplasm of the cns" ], "HP:0100836": [ "malignant neoplasm of the central nervous system", "malignant neoplasm of the cns" ], "HP:0100837": [ "atrophodermia vermiculata", "vermiculata atrophoderma" ], "HP:0100838": [ "recurrent cutaneous abscess formation" ], "HP:0100839": [ "hepatic agenesis", "fail liver development", "failed liver development", "liver agenesis" ], "HP:0100840": [ "aplasia / hypoplasia of the eyebrow", "absence of eyebrow", "agenesis of eyebrow", "hypotrophic eyebrow", "lack of eyebrow", "miss eyebrow", "missing eyebrow", "sparse or absent eyebrow", "sparse or absent eyebrows", "sparse to absent eyebrow", "sparse to absent eyebrows", "sparse / absent eyebrow", "sparse / absent eyebrows" ], "HP:0100841": [ "microgastria" ], "HP:0100842": [ "septo - optic dysplasia", "de morsier syndrome" ], "HP:0100844": [ "pancreatic fistula" ], "HP:0100845": [ "anaphylactic shock", "anaphylaxis" ], "HP:0100847": [ "palmoplantar pustulosis", "palmoplantar pustule", "palmoplantar pustules", "pustulosis of palm and sol", "pustulosis of palms and soles", "pustulosis palmaris et plantaris" ], "HP:0100848": [ "neoplasm of the male external genitalia", "neoplasia of the male external genitalia" ], "HP:0100849": [ "neoplasm of the scrotum", "neoplasia of the scrotum", "scrotum tumor", "scrotum tumour" ], "HP:0100850": [ "neoplasm of the penis", "neoplasia of the penis", "penis tumor", "penis tumour" ], "HP:0100851": [ "abnormal emotion / affect behavior", "abnormal emotion / affect behaviour" ], "HP:0100852": [ "abnormal fear / anxiety - related behavior", "abnormal fear / anxiety - relate behaviour", "abnormal fear / anxiety - related behaviour" ], "HP:0001296": [ "abnormal fear / anxiety - related behavior", "abnormal fear / anxiety - relate behaviour", "abnormal fear / anxiety - related behaviour" ], "HP:0100853": [ "hypoplastic areola", "hypoplastic areolae" ], "HP:0006609": [ "hypoplastic areola", "hypoplastic areolae" ], "HP:0100854": [ "aplasia of the musculature", "absent musculature" ], "HP:0100855": [ "triceps hypoplasia", "small triceps", "underdeveloped triceps" ], "HP:0100856": [ "poorly ossify vertebra", "poorly ossified vertebrae" ], "HP:0100857": [ "flat sella turcica" ], "HP:0100858": [ "dilatation of celiac artery", "celiac artery aneurysm", "coeliac artery aneurysm", "dilatation of coeliac artery" ], "HP:0100859": [ "dilatation of superior mesenteric artery", "superior mesenteric artery aneurysm" ], "HP:0100860": [ "dilatation of inferior mesenteric artery", "inferior mesenteric artery aneurysm" ], "HP:0100861": [ "sclerotic vertebral body", "vertebral body sclerosis" ], "HP:0004578": [ "sclerotic vertebral body", "vertebral body sclerosis" ], "HP:0100862": [ "aplasia of the femoral head", "absent femoral head" ], "HP:0100863": [ "aplasia of the femoral neck", "absent neck of thighbone" ], "HP:0100864": [ "short femoral neck", "hypoplasia of the femoral neck", "hypoplastic femoral neck", "short femoral necks", "short neck of thighbone" ], "HP:0003032": [ "short femoral neck", "hypoplasia of the femoral neck", "hypoplastic femoral neck", "short femoral necks", "short neck of thighbone" ], "HP:0008779": [ "short femoral neck", "hypoplasia of the femoral neck", "hypoplastic femoral neck", "short femoral necks", "short neck of thighbone" ], "HP:0008793": [ "short femoral neck", "hypoplasia of the femoral neck", "hypoplastic femoral neck", "short femoral necks", "short neck of thighbone" ], "HP:0100865": [ "broad ischia" ], "HP:0008814": [ "broad ischia" ], "HP:0100866": [ "short iliac bone", "short iliac bones", "short pelvis bone", "short pelvis bones" ], "HP:0100867": [ "duodenal stenosis", "duodenal stenosis / atresia" ], "HP:0005205": [ "duodenal stenosis", "duodenal stenosis / atresia" ], "HP:0010449": [ "duodenal stenosis", "duodenal stenosis / atresia" ], "HP:0100869": [ "palmar telangiectasia", "telangiectases of palm and sol", "telangiectases of palms and soles", "teleangiectases of palm", "teleangiectases of palms" ], "HP:0007399": [ "palmar telangiectasia", "telangiectases of palm and sol", "telangiectases of palms and soles", "teleangiectases of palm", "teleangiectases of palms" ], "HP:0100870": [ "plantar telangiectasia", "plantar teleangiectasia", "telangiectases of sol", "telangiectases of soles", "teleangiectases of sol", "teleangiectases of soles" ], "HP:0100871": [ "abnormality of the palm" ], "HP:0100872": [ "abnormality of the plantar skin of foot", "minor foot anomaly", "minor feet anomalies" ], "HP:0010613": [ "abnormality of the plantar skin of foot", "minor foot anomaly", "minor feet anomalies" ], "HP:0100874": [ "thick hair", "increase follicular density", "increased follicular density", "increase hair density", "increased hair density" ], "HP:0100875": [ "hemimacroglossia", "hemiglossal hyperplasia", "hemiglossal hypertrophy", "hyperplasia of half of the tongue", "hypertrophy of half of the tongue", "increase size of half of the tongue", "increased size of half of the tongue", "large half of tongue" ], "HP:0100876": [ "infra - orbital crease", "crease in skin under the eye", "groove in skin under the eye", "infraorbital crease", "infraorbital creases", "underorbital skin crease", "underorbital skin creases" ], "HP:0007796": [ "infra - orbital crease", "crease in skin under the eye", "groove in skin under the eye", "infraorbital crease", "infraorbital creases", "underorbital skin crease", "underorbital skin creases" ], "HP:0100877": [ "renal diverticulum", "caliceal diverticulum", "pelvic diverticulum", "renal pelvic diverticulum" ], "HP:0100878": [ "enlarge uterus", "enlarged uterus" ], "HP:0100879": [ "enlarge ovary", "enlarged ovaries" ], "HP:0100880": [ "nephrogenic rest" ], "HP:0100881": [ "congenital mesoblastic nephroma" ], "HP:0100882": [ "fibrous hamartoma", "fibrous hamartoma of infancy" ], "HP:0100883": [ "chorangioma", "placental hamartoma" ], "HP:0100884": [ "compensatory scoliosis" ], "HP:0100885": [ "lateral venous anomaly", "lateral marginal vein of servelle", "vein of servelle" ], "HP:0100886": [ "abnormality of globe location", "abnormality of eyeball location", "abnormality of eyeball position", "abnormality of globe position" ], "HP:0100887": [ "abnormality of globe size", "abnormality of eyeball size", "eye size difference" ], "HP:0010725": [ "abnormality of globe size", "abnormality of eyeball size", "eye size difference" ], "HP:0100888": [ "interdigital loop", "interdigital loops" ], "HP:0100889": [ "abnormality of the ductus choledochus", "abnormality of the common bile duct" ], "HP:0100890": [ "cyst of the ductus choledochus", "choledochal cyst" ], "HP:0100891": [ "bifid xiphoid process", "bifid xiphisternum" ], "HP:0100892": [ "abnormality of the xiphoid process" ], "HP:0100893": [ "prominent xiphoid process", "prominent xiphisternum" ], "HP:0100894": [ "broad xiphoid process", "broad xiphisternum" ], "HP:0100896": [ "rectal polyposis", "multiple rectal polyp", "multiple rectal polyps", "rectal polyp", "rectal polyps" ], "HP:0100897": [ "rectal polyposis", "multiple rectal polyp", "multiple rectal polyps", "rectal polyp", "rectal polyps" ], "HP:0100898": [ "connective tissue nevus", "connective tissue nevi" ], "HP:0100899": [ "sclerosis of finger phalanx", "increase bone density in the finger bone", "increased bone density in the finger bone", "sclerosis of the phalanx of the hand", "sclerosis of the phalanges of the hand" ], "HP:0100900": [ "sclerosis of the distal phalanx of the 2nd finger", "increase bone density in the outermost bone of the index finger", "increased bone density in the outermost bone of the index finger" ], "HP:0100901": [ "sclerosis of the distal phalanx of the 3rd finger", "increase bone density in the outermost bone of the middle finger", "increased bone density in the outermost bone of the middle finger" ], "HP:0100902": [ "sclerosis of the distal phalanx of the 4th finger", "increase bone density in the outermost bone of the ring finger", "increased bone density in the outermost bone of the ring finger" ], "HP:0100903": [ "sclerosis of the distal phalanx of the 5th finger", "increase bone density in the outermost little finger bone", "increased bone density in the outermost little finger bone", "increase bone density in the outermost pinkie finger bone", "increased bone density in the outermost pinkie finger bone", "increase bone density in the outermost pinky finger bone", "increased bone density in the outermost pinky finger bone" ], "HP:0100904": [ "sclerosis of the middle phalanx of the 2nd finger", "increase bone density in the middle bone of the index finger", "increased bone density in the middle bone of the index finger" ], "HP:0100905": [ "sclerosis of the middle phalanx of the 3rd finger", "increase bone density in the middle bone of the middle finger", "increased bone density in the middle bone of the middle finger" ], "HP:0100906": [ "sclerosis of the middle phalanx of the 4th finger", "increase bone density in the middle bone of the ring finger", "increased bone density in the middle bone of the ring finger" ], "HP:0100907": [ "sclerosis of the middle phalanx of the 5th finger", "increase bone density in the middle bone of the little finger", "increased bone density in the middle bone of the little finger", "increase bone density in the middle bone of the pinkie finger", "increased bone density in the middle bone of the pinkie finger", "increase bone density in the middle bone of the pinky finger", "increased bone density in the middle bone of the pinky finger" ], "HP:0100908": [ "sclerosis of the proximal phalanx of the 2nd finger", "increase bone density in the innermost bone of the index finger", "increased bone density in the innermost bone of the index finger" ], "HP:0100909": [ "sclerosis of the proximal phalanx of the 3rd finger", "increase bone density in innermost bone of the middle finger", "increased bone density in innermost bone of the middle finger" ], "HP:0100910": [ "sclerosis of the proximal phalanx of the 4th finger", "increase bone density in the innermost bone of the ring finger", "increased bone density in the innermost bone of the ring finger" ], "HP:0100911": [ "sclerosis of the proximal phalanx of the 5th finger", "increase bone density in innermost little finger bone", "increased bone density in innermost little finger bone", "increase bone density in innermost pinkie finger bone", "increased bone density in innermost pinkie finger bone", "increase bone density in innermost pinky finger bone", "increased bone density in innermost pinky finger bone" ], "HP:0100912": [ "sclerosis of the distal phalanx of the thumb", "increase bone density in the outermost bone of the thumb", "increased bone density in the outermost bone of the thumb" ], "HP:0100913": [ "sclerosis of the proximal phalanx of the thumb", "increase bone density in the innermost bone of the thumb", "increased bone density in the innermost bone of the thumb" ], "HP:0100914": [ "sclerosis of the 1st metacarpal", "increase bone density in 1st long bone of hand", "increased bone density in 1st long bone of hand" ], "HP:0100915": [ "sclerosis of distal finger phalanx", "increase bone density in outermost finger bone", "increased bone density in outermost finger bone", "sclerosis of the distal phalanx of the hand", "sclerosis of the distal phalanges of the hand" ], "HP:0100916": [ "sclerosis of middle finger phalanx", "increase bone density in middle finger bone of hand", "increased bone density in middle finger bone of hand", "sclerosis of the middle phalanx of the hand", "sclerosis of the middle phalanges of the hand" ], "HP:0100917": [ "sclerosis of proximal finger phalanx", "increase bone density in innermost finger bone", "increased bone density in innermost finger bone", "sclerosis of the proximal phalanx of the hand", "sclerosis of the proximal phalanges of the hand" ], "HP:0100918": [ "sclerosis of 2nd finger phalanx", "increase bone density in 2nd finger bone", "increased bone density in 2nd finger bone", "sclerosis of the phalanx of the 2nd finger", "sclerosis of the phalanges of the 2nd finger" ], "HP:0100919": [ "sclerosis of 3rd finger phalanx", "increase bone density in middle finger bone", "increased bone density in middle finger bone", "sclerosis of the phalanx of the 3rd finger", "sclerosis of the phalanges of the 3rd finger" ], "HP:0100920": [ "sclerosis of 4th finger phalanx", "increase bone density in ring finger bone", "increased bone density in ring finger bone", "sclerosis of the phalanx of the 4th finger", "sclerosis of the phalanges of the 4th finger" ], "HP:0100921": [ "sclerosis of 5th finger phalanx", "increase bone density in little finger bone", "increased bone density in little finger bone", "increase bone density in pinkie finger bone", "increased bone density in pinkie finger bone", "increase bone density in pinky finger bone", "increased bone density in pinky finger bone", "sclerosis of the phalanx of the 5th finger", "sclerosis of the phalanges of the 5th finger" ], "HP:0100922": [ "sclerosis of thumb phalanx", "increase bone density in thumb bone", "increased bone density in thumb bone", "sclerosis of the phalanx of the thumb", "sclerosis of the phalanges of the thumb" ], "HP:0100923": [ "clavicular sclerosis", "increase bone density in collarbone", "increased bone density in collarbone", "osteosclerosis of the clavicle", "osteosclerosis of the clavicles" ], "HP:0006648": [ "clavicular sclerosis", "increase bone density in collarbone", "increased bone density in collarbone", "osteosclerosis of the clavicle", "osteosclerosis of the clavicles" ], "HP:0100924": [ "sclerosis of toe phalanx", "increase bone density in the toe bone", "increased bone density in the toe bone", "sclerosis of the phalanx of the toe", "sclerosis of the phalanges of the toes" ], "HP:0100925": [ "sclerosis of foot bone", "increase bone density in foot bone", "increased bone density in foot bone", "sclerosis of bone of the foot", "sclerosis of bones of the feet" ], "HP:0100926": [ "sclerosis of 2nd toe phalanx", "increase bone density in 2nd toe bone", "increased bone density in 2nd toe bone", "sclerosis of the phalanx of the 2nd toe", "sclerosis of the phalanges of the 2nd toe" ], "HP:0100927": [ "sclerosis of 3rd toe phalanx", "increase bone density in 3rd toe bone", "increased bone density in 3rd toe bone", "sclerosis of the phalanx of the 3rd toe", "sclerosis of the phalanges of the 3rd toe" ], "HP:0100928": [ "sclerosis of 4th toe phalanx", "increase bone density in 4th toe bone", "increased bone density in 4th toe bone", "sclerosis of the phalanx of the 4th toe", "sclerosis of the phalanges of the 4th toe" ], "HP:0100929": [ "sclerosis of 5th toe phalanx", "increase bone density in little toe bone", "increased bone density in little toe bone", "increase bone density in pinkie toe bone", "increased bone density in pinkie toe bone", "increase bone density in pinky toe bone", "increased bone density in pinky toe bone", "sclerosis of the phalanx of the 5th toe", "sclerosis of the phalanges of the 5th toe" ], "HP:0100930": [ "sclerosis of hallux phalanx", "increase bone density in big toe bone", "increased bone density in big toe bone", "sclerosis of the phalanx of the hallux", "sclerosis of the phalanges of the hallux" ], "HP:0100931": [ "sclerosis of the proximal phalanx of the 2nd toe", "increase bone density in the innermost bone of the 2nd toe", "increased bone density in the innermost bone of the 2nd toe" ], "HP:0100932": [ "sclerosis of the proximal phalanx of the 3rd toe", "increase bone density in the innermost bone of the 3rd toe", "increased bone density in the innermost bone of the 3rd toe" ], "HP:0100933": [ "sclerosis of the proximal phalanx of the 4th toe", "increase bone density in the innermost bone of the 4th toe", "increased bone density in the innermost bone of the 4th toe" ], "HP:0100934": [ "sclerosis of the proximal phalanx of the 5th toe", "increase bone density in the innermost bone of the little toe", "increased bone density in the innermost bone of the little toe", "increase bone density in the innermost bone of the pinkie toe", "increased bone density in the innermost bone of the pinkie toe", "increase bone density in the innermost bone of the pinky toe", "increased bone density in the innermost bone of the pinky toe" ], "HP:0100935": [ "sclerosis of the middle phalanx of the 2nd toe", "increase bone density in the middle bone of the 2nd toe", "increased bone density in the middle bone of the 2nd toe" ], "HP:0100936": [ "sclerosis of the middle phalanx of the 3rd toe", "increase bone density in the middle bone of the 3rd toe", "increased bone density in the middle bone of the 3rd toe" ], "HP:0100937": [ "sclerosis of the middle phalanx of the 4th toe", "increase bone density in the middle bone of the 4th toe", "increased bone density in the middle bone of the 4th toe" ], "HP:0100938": [ "sclerosis of the middle phalanx of the 5th toe", "increase bone density in the middle bone of the little toe", "increased bone density in the middle bone of the little toe", "increase bone density in the middle bone of the pinkie toe", "increased bone density in the middle bone of the pinkie toe", "increase bone density in the middle bone of the pinky toe", "increased bone density in the middle bone of the pinky toe" ], "HP:0100939": [ "sclerosis of the distal phalanx of the 2nd toe", "increase bone density in the outermost bone of the 2nd toe", "increased bone density in the outermost bone of the 2nd toe" ], "HP:0100940": [ "sclerosis of the distal phalanx of the 3rd toe", "increase bone density in the outermost bone of the 3rd toe", "increased bone density in the outermost bone of the 3rd toe" ], "HP:0100941": [ "sclerosis of the distal phalanx of the 4th toe", "increase bone density in the outermost bone of the 4th toe", "increased bone density in the outermost bone of the 4th toe" ], "HP:0100942": [ "sclerosis of the distal phalanx of the 5th toe", "increase bone density in the outermost bone of the little toe", "increased bone density in the outermost bone of the little toe", "increase bone density in the outermost bone of the pinkie toe", "increased bone density in the outermost bone of the pinkie toe", "increase bone density in the outermost bone of the pinky toe", "increased bone density in the outermost bone of the pinky toe" ], "HP:0100943": [ "sclerosis of the proximal phalanx of the hallux", "increase bone density in the innermost bone of the big toe", "increased bone density in the innermost bone of the big toe" ], "HP:0100944": [ "sclerosis of the distal phalanx of the hallux", "increase bone density in the outermost bone of the big toe", "increased bone density in the outermost bone of the big toe" ], "HP:0100945": [ "sclerosis of the 1st metatarsal", "increase bone density in the 1st long bone of foot", "increased bone density in the 1st long bone of foot" ], "HP:0100946": [ "sclerosis of proximal toe phalanx", "increase bone density in innermost toe bone", "increased bone density in innermost toe bone", "sclerosis of the proximal phalanx of the toe", "sclerosis of the proximal phalanges of the toes" ], "HP:0100947": [ "sclerosis of middle toe phalanx", "increase bone density in middle toe bone", "increased bone density in middle toe bone", "sclerosis of the middle phalanx of the toe", "sclerosis of the middle phalanges of the toes" ], "HP:0100948": [ "sclerosis of distal toe phalanx", "increase bone density in the outermost bone of the toe", "increased bone density in the outermost bone of the toes", "sclerosis of the distal phalanx of the toe", "sclerosis of the distal phalanges of the toes" ], "HP:0100950": [ "decrease 3 - hydroxyacyl - coa dehydrogenase level", "decreased 3 - hydroxyacyl - coa dehydrogenase level", "long chain 3 hydroxyacyl coa dehydrogenase deficiency", "medium and short - chain l - 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency", "short - chain 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency" ], "HP:0100951": [ "enlarge fossa interpeduncularis", "enlarged fossa interpeduncularis", "enlarge basal cistern", "enlarged basal cistern", "enlarge interpeduncular cistern", "enlarged interpeduncular cistern" ], "HP:0002420": [ "enlarge fossa interpeduncularis", "enlarged fossa interpeduncularis", "enlarge basal cistern", "enlarged basal cistern", "enlarge interpeduncular cistern", "enlarged interpeduncular cistern" ], "HP:0100952": [ "enlarge sylvian cistern", "enlarged sylvian cistern", "enlarged lateral fissure", "enlarged lateral sulcus", "enlarge sylvian fissure", "enlarged sylvian fissure" ], "HP:0100953": [ "enlarge interhemispheric fissure", "enlarged interhemispheric fissure", "enlarge great longitudinal fissure", "enlarged great longitudinal fissure", "enlarge longitudinal cerebral fissure", "enlarged longitudinal cerebral fissure", "enlarge longitudinal fissure", "enlarged longitudinal fissure" ], "HP:0100954": [ "open operculum" ], "HP:0100955": [ "giant cell granuloma of mandible" ], "HP:0100957": [ "abnormal renal medulla morphology", "abnormality of the renal medulla" ], "HP:0005582": [ "abnormal renal medulla morphology", "abnormality of the renal medulla" ], "HP:0100958": [ "narrow foramen obturatorium" ], "HP:0100959": [ "dense metaphyseal band", "dense metaphyseal bands", "dense metaphyseal line", "dense metaphyseal lines", "transverse metaphyseal band", "transverse metaphyseal bands" ], "HP:0100960": [ "asymmetric ventricle", "asymmetric ventricles" ], "HP:0100961": [ "enlarge hippocampus", "enlarged hippocampus" ], "HP:0100962": [ "shyness" ], "HP:0100963": [ "hyperesthesia", "hyperaesthesia" ], "HP:0200000": [ "dysharmonic bone age", "dysharmonic skeletal maturation" ], "HP:0200001": [ "dysharmonic accelerate bone age", "dysharmonic accelerated bone age" ], "HP:0200003": [ "splay epiphysis", "splayed epiphyses", "splayed end part of bone" ], "HP:0004978": [ "splay epiphysis", "splayed epiphyses", "splayed end part of bone" ], "HP:0200005": [ "abnormal shape of the palpebral fissure", "abnormal morphology of the palpebral fissure", "abnormal shape of the opening between the eyelid", "abnormal shape of the opening between the eyelids" ], "HP:0200006": [ "slanting of the palpebral fissure", "slanting of the opening between the eyelid", "slanting of the opening between the eyelids" ], "HP:0200007": [ "abnormal size of the palpebral fissure", "abnormal size of the palpebral fissures", "abnormal size of the eye", "abnormal size of the eyes", "abnormal size of the opening between the eyelid", "abnormal size of the opening between the eyelids" ], "HP:0200008": [ "intestinal polyposis", "gastrointestinal polyp", "gastrointestinal polyps", "growth in inner lining of intestine", "growths in inner lining of intestine", "multiple intestinal polyp", "multiple intestinal polyps" ], "HP:0200011": [ "abnormal length of corpus callosum" ], "HP:0200012": [ "short corpus callosum" ], "HP:0200013": [ "neoplasm of fatty tissue", "tumor of fatty tissue", "tumour of fatty tissue" ], "HP:0200015": [ "symmetric great toe depigmentation" ], "HP:0200016": [ "acrokeratosis", "acral keratosis" ], "HP:0200017": [ "cerebral white matter agenesis", "agenesis of the cerebral white matter", "white matter agenesis" ], "HP:0200018": [ "protanomaly", "colorblindness , partial , protan series", "red - weak" ], "HP:0200019": [ "protanomaly", "colorblindness , partial , protan series", "red - weak" ], "HP:0200020": [ "corneal erosion", "damage to outer layer of the cornea of the eye" ], "HP:0200021": [ "down - sloping shoulder", "down - sloping shoulders", "rounded shoulder", "rounded shoulders", "round , slop shoulder", "rounded , sloping shoulders", "slop shoulder", "sloping shoulders" ], "HP:0001556": [ "down - sloping shoulder", "down - sloping shoulders", "rounded shoulder", "rounded shoulders", "round , slop shoulder", "rounded , sloping shoulders", "slop shoulder", "sloping shoulders" ], "HP:0006663": [ "down - sloping shoulder", "down - sloping shoulders", "rounded shoulder", "rounded shoulders", "round , slop shoulder", "rounded , sloping shoulders", "slop shoulder", "sloping shoulders" ], "HP:0200022": [ "choroid plexus papilloma" ], "HP:0200023": [ "priapism", "hulseyism" ], "HP:0200024": [ "premature chromatid separation" ], "HP:0200025": [ "mandibular pain", "low jaw pain", "lower jaw pain" ], "HP:0200026": [ "ocular pain", "eye pain" ], "HP:0200028": [ "pretibial myxedema", "graf dermopathy", "graves dermopathy" ], "HP:0200029": [ "vasculitis in the skin", "cutaneous vasculitis" ], "HP:0200030": [ "punctate vasculitis skin lesion", "punctate vasculitis skin lesions" ], "HP:0200032": [ "kayser - fleischer ring", "fleischer 's ring", "fleischer - kayser ring", "fleischer - struempell ring" ], "HP:0200034": [ "papule", "papules", "skin papule", "skin papules" ], "HP:0200035": [ "skin plaque" ], "HP:0200036": [ "skin nodule", "growth of abnormal tissue on or under the skin" ], "HP:0200037": [ "skin vesicle" ], "HP:0200039": [ "pustule", "pimple", "pustula", "pustular lesion", "pustules", "skin pustule", "skin pustules" ], "HP:0200040": [ "epidermoid cyst", "epidermal cyst", "epidermal inclusion cyst", "epidermoid cysts", "infundibular cyst", "keratin cyst", "sebaceous cyst", "skin cyst" ], "HP:0200041": [ "skin erosion" ], "HP:0200042": [ "skin ulcer", "open skin sore" ], "HP:0200043": [ "verruca", "verrucae", "wart", "warts" ], "HP:0200044": [ "porokeratosis" ], "HP:0200046": [ "cat cry", "cat - like cry", "cri de chat - associate cry", "cri de chat - associated cry" ], "HP:0200047": [ "chondritis of pinna", "inflammation of cartilage of pinna" ], "HP:0200048": [ "cyanotic episode" ], "HP:0200049": [ "upper limb hypertonia" ], "HP:0200050": [ "bracket metacarpal epiphysis", "bracket metacarpal epiphyses", "bracket shape end part of long bone of hand", "bracket shaped end part of long bone of hand" ], "HP:0200053": [ "hemihypotrophy of low limb", "hemihypotrophy of lower limb", "asymmetric leg shorten", "asymmetric leg shortening", "asymmetric low limb shortness", "asymmetric lower limb shortness" ], "HP:0005618": [ "hemihypotrophy of low limb", "hemihypotrophy of lower limb", "asymmetric leg shorten", "asymmetric leg shortening", "asymmetric low limb shortness", "asymmetric lower limb shortness" ], "HP:0200054": [ "foot monodactyly" ], "HP:0200055": [ "small hand", "disproportionately small hand", "disproportionately small hands", "small hands" ], "HP:0200056": [ "obsolete progressive macular scarring", "macular scar", "macular scarring" ], "HP:0200057": [ "marcus gunn pupil", "relative afferent pupil defect", "relative afferent pupillary defect" ], "HP:0200058": [ "angiosarcoma" ], "HP:0200059": [ "metastatic angiosarcoma" ], "HP:0200063": [ "colorectal polyposis", "colorectal polyp", "colorectal polyps" ], "HP:0200064": [ "asymmetry of iris pigmentation" ], "HP:0200065": [ "obsolete choroidal degeneration", "chorioretinal degeneration" ], "HP:0007912": [ "chorioretinal degeneration" ], "HP:0200066": [ "ribbonlike corneal degeneration" ], "HP:0200067": [ "recurrent spontaneous abortion", "spontaneous abortion , recurrent" ], "HP:0200068": [ "nonprogressive visual loss", "decrease visual acuity , nonprogressive", "decreased visual acuity , nonprogressive" ], "HP:0200070": [ "peripheral retinal atrophy", "wasting of the out part of the retina", "wasting of the outer part of the retina" ], "HP:0200071": [ "peripheral vitreoretinal degeneration" ], "HP:0200072": [ "episodic quadriplegia", "quadriplegia , episodic" ], "HP:0200073": [ "respiratory insufficiency due to defective ciliary clearance" ], "HP:0200083": [ "severe limb shorten", "severe limb shortening" ], "HP:0200084": [ "giant cell hepatitis", "giant cell hepatitis on biopsy", "giant cell hepatitis on liver biopsy", "giant cell hepatitis show on biopsy", "giant cell hepatitis shown on biopsy" ], "HP:0200085": [ "limb tremor", "involuntary shaking of limb", "tremor of limb", "tremor of limbs" ], "HP:0200094": [ "frontal open bite" ], "HP:0200096": [ "triangular - shape open mouth", "triangular - shaped open mouth" ], "HP:0200097": [ "oral mucosal blister", "oral mucosal blisters", "bleb of oral mucosa", "blebs of oral mucosa", "blister of mouth", "blisters of mouth", "bulla of oral mucosa", "bullae of oral mucosa", "oral blistering", "oral mucosa blister", "oral mucosa blisters" ], "HP:0200098": [ "absent skin pigmentation", "lack of skin coloration" ], "HP:0200099": [ "obsolete peripheral retinal pigmentation abnormality", "obsolete peripheral retinal pigmentation abnormalities" ], "HP:0200101": [ "decrease / absent ankle reflex", "decreased / absent ankle reflexes", "decrease or absent ankle reflex", "decreased or absent ankle reflexes" ], "HP:0200102": [ "sparse or absent eyelash", "sparse or absent eyelashes", "partial to total absence of eyelash", "partial to total absence of eyelashes", "sparse to absent eyelash", "sparse to absent eyelashes" ], "HP:0200104": [ "absent fifth fingernail", "absent nail of fifth finger" ], "HP:0011366": [ "absent fifth fingernail", "absent nail of fifth finger" ], "HP:0200105": [ "absent fifth toenail", "miss fifth toenail", "missing fifth toenail" ], "HP:0200106": [ "absent / shorten dynein arm", "absent / shortened dynein arms" ], "HP:0200107": [ "shorten inner dynein arm", "shortened inner dynein arms" ], "HP:0200108": [ "shorten out dynein arm", "shortened outer dynein arms" ], "HP:0200109": [ "absent / shorten out dynein arm", "absent / shortened outer dynein arms", "respiratory cilium have shorten or absent outer dynein arm", "respiratory cilia have shortened or absent outer dynein arms" ], "HP:0200111": [ "absent stapes head" ], "HP:0200113": [ "aphalangy of hand and foot", "aphalangy of hands and feet", "aphalangy , hand and foot", "aphalangy , hands and feet" ], "HP:0200114": [ "metabolic alkalosis" ], "HP:0200116": [ "distal ileal atresia" ], "HP:0200117": [ "recurrent upper and low respiratory tract infection", "recurrent upper and lower respiratory tract infections" ], "HP:0200118": [ "malabsorption of vitamin b12", "malabsorption of cyanocobalamin", "vitamin b12 deficiency cause by intestinal malabsorption", "vitamin b12 deficiency caused by intestinal malabsorption" ], "HP:0200119": [ "acute hepatitis", "acute liver inflammation" ], "HP:0200120": [ "chronic active hepatitis", "hepatitis , chronic active" ], "HP:0200122": [ "atypical or prolonged hepatitis", "atypical or prolonged liver inflammation" ], "HP:0200123": [ "chronic hepatitis", "chronic liver inflammation" ], "HP:0200124": [ "chronic hepatitis due to cryptosporidium infection", "hepatitis , chronic , due to cryptosporidium infection" ], "HP:0200125": [ "mitochondrial respiratory chain defect", "mitochondrial respiratory chain defects" ], "HP:0200127": [ "atrial cardiomyopathy" ], "HP:0200128": [ "biventricular hypertrophy" ], "HP:0200133": [ "lumbosacral meningocele" ], "HP:0200134": [ "epileptic encephalopathy", "convulsive encephalopathy" ], "HP:0200136": [ "oral - pharyngeal dysphagia", "oral pharyngeal dysphagia", "oropharyngeal dysphagia" ], "HP:0200138": [ "bilateral choanal atresia / stenosis" ], "HP:0200141": [ "small , conical teeth", "conical microdontia", "small , cone shape teeth", "small , cone shaped teeth", "small , peg shape teeth", "small , peg shaped teeth", "small , point teeth", "small , pointed teeth" ], "HP:0200143": [ "megaloblastic erythroid hyperplasia", "bone marrow biopsy show megaloblastic erythroid hyperplasia", "bone marrow biopsy shows megaloblastic erythroid hyperplasia" ], "HP:0200144": [ "obsolete anaphylactoid purpura" ], "HP:0200146": [ "mucoid extracellular matrix accumulation", "cystic medial necrosis of the aorta" ], "HP:0200147": [ "neuronal loss in basal ganglion", "neuronal loss in basal ganglia" ], "HP:0200148": [ "abnormal liver function test during pregnancy", "abnormal liver function tests during pregnancy", "abnormal liver function test during pregnancy , resolve postpartum", "abnormal liver function tests during pregnancy , resolves postpartum" ], "HP:0200149": [ "csf lymphocytic pleiocytosis", "csf lymphocytosis" ], "HP:0200150": [ "increase serum bile acid concentration during pregnancy", "increased serum bile acid concentration during pregnancy", "increase serum bile acid concentration during pregnancy , resolve", "increased serum bile acid concentration during pregnancy , resolves" ], "HP:0200151": [ "cutaneous mastocytosis" ], "HP:0200153": [ "agenesis of lateral incisor", "absence of lateral incisor", "failure of development of lateral incisor", "miss lateral incisor", "missing lateral incisor" ], "HP:0200154": [ "agenesis of mandibular lateral incisor", "absence of low lateral incisor", "absence of lower lateral incisor", "absence of mandibular lateral incisor", "failure of development of mandibular lateral incisor", "miss low lateral incisor", "missing lower lateral incisor", "miss mandibular lateral incisor", "missing mandibular lateral incisor" ], "HP:0200158": [ "agenesis of permanent mandibular lateral incisor", "absence of adult mandibular lateral incisor", "absence of permanent mandibular lateral incisor", "failure of development of permanent mandibular lateral incisor", "miss adult lower lateral incisor", "missing adult lower lateral incisor", "miss permanent mandibular lateral incisor", "missing permanent mandibular lateral incisor" ], "HP:0200159": [ "agenesis of primary mandibular lateral incisor", "absence of deciduous mandibular lateral incisor", "absence of low front baby tooth", "absence of lower front baby tooth", "absence of primary mandibular lateral incisor", "agenesis of deciduous mandibular lateral incisor", "failure of development of deciduous mandibular lateral incisor", "failure of development of primary mandibular lateral incisor", "miss deciduous mandibular lateral incisor", "missing deciduous mandibular lateral incisor", "miss primary mandibular lateral incisor", "missing primary mandibular lateral incisor" ], "HP:0200160": [ "agenesis of maxillary incisor", "absence of maxillary incisor", "absence of upper front tooth", "failure of development of maxillary incisor", "failure of development of upper incisor", "miss upper front tooth", "missing upper front tooth", "miss upper incisor", "missing upper incisor" ], "HP:0200161": [ "agenesis of mandibular incisor", "absence of low front tooth", "absence of lower front tooth", "absence of low incisor", "absence of lower incisor", "absence of mandibular incisor", "agenesis of low incisor", "agenesis of lower incisor", "failure of development of mandibular incisor", "miss low front tooth", "missing lower front tooth", "miss low incisor", "missing lower incisor" ], "HP:0400000": [ "tall chin", "increase height of chin", "increased height of chin", "increase height of menton region", "increased height of menton region", "long chin", "long low third of face", "long lower third of face", "vertical excess of chin", "vertical hyperplasia of chin" ], "HP:0400001": [ "chin with vertical crease", "chin with vertical furrow", "chin with vertical groove", "chin with vertical sulcus", "chin , vertical crease", "cleft chin", "vertical chin skin cleft", "vertical menton crease" ], "HP:0400002": [ "extra concha fold", "concha , extra fold" ], "HP:0400003": [ "focal absence of the external ear" ], "HP:0400004": [ "long ear", "long ears" ], "HP:0400005": [ "short ear", "short ears" ], "HP:0400007": [ "polymenorrhea" ], "HP:0400008": [ "menometrorrhagia" ], "HP:0410000": [ "abnormality of vomer", "abnormality of vomer bone", "defect of vomer" ], "HP:0410003": [ "cleft maxillary alveolus", "alveolar cleft", "cleft alveolar process of maxilla", "cleft anterior maxilla", "cleft primary palate" ], "HP:0410005": [ "cleft hard palate", "cleft bony palate", "cleft of hard palate" ], "HP:0410006": [ "abnormality of ophthalmic artery", "ophthalmic artery anomaly" ], "HP:0410008": [ "abnormality of the peripheral nervous system" ], "HP:0410009": [ "abnormality of the somatic nervous system" ], "HP:0410010": [ "abnormality of somatic nerve plexus" ], "HP:0410011": [ "abnormality of masticatory muscle", "abnormality of muscle of mastication", "abnormality of muscles of mastication" ], "HP:0410012": [ "abnormal mouth floor morphology", "abnormality of the floor of mouth", "abnormality of the mouth floor" ], "HP:0410013": [ "abnormality of the submandibular region" ], "HP:0410014": [ "abnormality of ganglion" ], "HP:0410015": [ "abnormality of ganglion of peripheral nervous system" ], "HP:0410016": [ "abnormality of cranial ganglion" ], "HP:0410017": [ "otitis externa", "swimmer 's ear" ], "HP:0410018": [ "recurrent ear infection", "recurrent ear infections", "frequent ear infection", "frequent ear infections" ], "HP:0410019": [ "epigastric pain", "epigastrium pain" ], "HP:0410020": [ "fish odor", "fish odour", "fishy body odor", "fishy body odour", "fishy odor", "fishy odour" ], "HP:0410021": [ "musty odor", "musty odour" ], "HP:0410022": [ "vaginal fish odor", "vaginal fish odour" ], "HP:0410023": [ "abnormal distribution of cell junction proteins in buccal mucosal cell", "abnormal distribution of cell junction proteins in buccal mucosal cells" ], "HP:0410026": [ "abnormal periodontium morphology", "abnormality of the periodontium" ], "HP:0410027": [ "alveolar bone loss around teeth", "bone loss around teeth" ], "HP:0410028": [ "recurrent oral herpes", "recurrent herpes labialis" ], "HP:0410030": [ "cleft lip", "cleft of the lip" ], "HP:0410031": [ "submucous cleft of soft and hard palate" ], "HP:0410033": [ "unilateral alveolar cleft of maxilla" ], "HP:0410034": [ "bilateral alveolar cleft of maxilla" ], "HP:0410035": [ "abnormal t cell activation", "abnormal t lymphocyte activation", "abnormal t - cell activation", "abnormal t - lymphocyte activation" ], "HP:0410042": [ "abnormal liver morphology" ], "HP:0410043": [ "abnormal neural tube morphology" ], "HP:0410049": [ "abnormality of radial ray", "deformity of radial ray", "radial ray abnormality", "radial ray anomaly", "radial ray deformity" ], "HP:0410050": [ "decrease level of 1,5 anhydroglucitol in serum", "decreased level of 1,5 anhydroglucitol in serum", "decrease level of 1,5 - ag in serum", "decreased level of 1,5 - ag in serum", "decrease level of 1,5 - anhydro - d - glucitol in serum", "decreased level of 1,5 - anhydro - d - glucitol in serum", "decrease level of 1,5 - anhydroglucitol in serum", "decreased level of 1,5 - anhydroglucitol in serum" ], "HP:0410051": [ "increase level of 3 - hydroxy - 3 - methylglutaric acid in urine", "increased level of 3 - hydroxy - 3 - methylglutaric acid in urine" ], "HP:0410052": [ "increase level of allantoin in serum", "increased level of allantoin in serum" ], "HP:0410053": [ "obsolete elevate circulate gamma - aminobutyric acid concentration", "obsolete elevated circulating gamma - aminobutyric acid concentration", "elevate circulate gamma - aminobutyric acid concentration", "elevated circulating gamma - aminobutyric acid concentration", "increase circulate gaba concentration", "increased circulating gaba concentration", "increase level of gaba in serum", "increased level of gaba in serum", "increase level of gamma - aminobutyric acid in serum", "increased level of gamma - aminobutyric acid in serum" ], "HP:0410054": [ "decrease circulate gaba concentration", "decreased circulating gaba concentration", "decrease level of gamma - aminobutyric acid in serum", "decreased level of gamma - aminobutyric acid in serum" ], "HP:0410055": [ "decrease level of erythritol in urine", "decreased level of erythritol in urine" ], "HP:0410056": [ "decrease level of erythritol in csf", "decreased level of erythritol in csf", "decrease level of erythritol in cerebrospinal fluid", "decreased level of erythritol in cerebrospinal fluid" ], "HP:0410057": [ "increase level of d - threitol in plasma", "increased level of d - threitol in plasma" ], "HP:0410058": [ "increase level of d - threitol in csf", "increased level of d - threitol in csf", "increase level of d - threitol in cerebrospinal fluid", "increased level of d - threitol in cerebrospinal fluid" ], "HP:0410059": [ "increase level of d - threitol in urine", "increased level of d - threitol in urine" ], "HP:0410060": [ "decrease level of d - mannose in urine", "decreased level of d - mannose in urine" ], "HP:0410061": [ "increase level of galactitol in plasma", "increased level of galactitol in plasma" ], "HP:0410062": [ "increase level of galactitol in urine", "increased level of galactitol in urine" ], "HP:0410063": [ "increase level of galactonate in red blood cell", "increased level of galactonate in red blood cells", "increase level of galactonate in erythrocyte", "increased level of galactonate in erythrocytes", "increase level of galactonate in rbc", "increased level of galactonate in rbcs" ], "HP:0410064": [ "increase level of galactitol in red blood cell", "increased level of galactitol in red blood cells", "increase level of galactitol in erythrocyte", "increased level of galactitol in erythrocytes" ], "HP:0410065": [ "increase level of hippuric acid in blood", "increased level of hippuric acid in blood", "increase level of n - benzoylglycine in blood", "increased level of n - benzoylglycine in blood" ], "HP:0410066": [ "increase level of hippuric acid in urine", "increased level of hippuric acid in urine", "increase level of n - benzoylglycine in urine", "increased level of n - benzoylglycine in urine" ], "HP:0410067": [ "increase level of l - fucose in urine", "increased level of l - fucose in urine" ], "HP:0410068": [ "increase level of l - glutamic acid in blood", "increased level of l - glutamic acid in blood" ], "HP:0410069": [ "increase level of propylene glycol in blood", "increased level of propylene glycol in blood", "increase level of propane - 1,2 - diol in blood", "increased level of propane - 1,2 - diol in blood" ], "HP:0410070": [ "increase level of ribitol in urine", "increased level of ribitol in urine" ], "HP:0410071": [ "increase level of ribitol in csf", "increased level of ribitol in csf", "increase level of ribitol in cerebrospinal fluid", "increased level of ribitol in cerebrospinal fluid" ], "HP:0410072": [ "increase level of ribose in urine", "increased level of ribose in urine" ], "HP:0410073": [ "increase level of ribose in csf", "increased level of ribose in csf", "increase level of ribose in cerebrospinal fluid", "increased level of ribose in cerebrospinal fluid" ], "HP:0410074": [ "increase level of xylitol in urine", "increased level of xylitol in urine" ], "HP:0410075": [ "increase level of xylitol in csf", "increased level of xylitol in csf", "increase level of xylitol in cerebrospinal fluid", "increased level of xylitol in cerebrospinal fluid" ], "HP:0410132": [ "increase level of l - pyroglutamic acid in urine", "increased level of l - pyroglutamic acid in urine", "elevate urine 5 - oxoproline", "elevated urine 5 - oxoproline", "increase level of 5 - oxo - l - proline in urine", "increased level of 5 - oxo - l - proline in urine" ], "HP:0410133": [ "chronic idiopathic urticaria", "chronic spontaneous urticaria" ], "HP:0410134": [ "physical urticaria" ], "HP:0410135": [ "cold urticaria" ], "HP:0410136": [ "aquagenic urticaria" ], "HP:0410137": [ "solar urticaria" ], "HP:0410138": [ "vibratory urticaria" ], "HP:0410139": [ "exercise induce anaphylaxis", "exercise induced anaphylaxis" ], "HP:0410144": [ "abnormal biotinidase level" ], "HP:0410145": [ "decreased biotinidase level" ], "HP:0410146": [ "increased biotinidase level" ], "HP:0410147": [ "eosinophilic infiltration in the stomach mucosa", "eosinophilic gastritis" ], "HP:0410148": [ "idiopathic anaphylaxis" ], "HP:0410149": [ "drug - induce anaphylaxis", "drug - induced anaphylaxis", "drug induce anaphylaxis", "drug induced anaphylaxis" ], "HP:0410151": [ "eosinophilic infiltration of the esophagus", "eosinophilic esophagitis", "eosinophilic infiltration of the oesophagus" ], "HP:0410152": [ "eosinophilic microabscess formation in the esophagus", "eosinophilic micro - abscess formation in the esophagus", "eosinophilic micro - abscess formation in the oesophagus", "eosinophilic microabscess formation in the oesophagus" ], "HP:0410153": [ "increase level of methylsuccinic acid in urine", "increased level of methylsuccinic acid in urine", "increase level of pyrotartaric acid in urine", "increased level of pyrotartaric acid in urine" ], "HP:0410154": [ "increase level of myristic acid in serum", "increased level of myristic acid in serum", "increase level of tetradecanoic acid in serum", "increased level of tetradecanoic acid in serum" ], "HP:0410156": [ "increase level of n - acetylneuraminic acid in urine", "increased level of n - acetylneuraminic acid in urine", "increase level of nana in urine", "increased level of nana in urine", "increase level of neu5ac in urine", "increased level of neu5ac in urine" ], "HP:0410157": [ "increase level of n - acetylneuraminic acid in fibroblast", "increased level of n - acetylneuraminic acid in fibroblasts", "increase level of nana in fibroblast", "increased level of nana in fibroblasts", "increase level of neu5ac in fibroblast", "increased level of neu5ac in fibroblasts", "increase level of sialic acid in fibroblast", "increased level of sialic acid in fibroblasts" ], "HP:0410158": [ "increase urine o - phosphoethanolamine level", "increased urine o - phosphoethanolamine level", "increase level of o - phosphoethanolamine in urine", "increased level of o - phosphoethanolamine in urine" ], "HP:0410166": [ "defective interstrand cross - link repair" ], "HP:0410167": [ "abnormal morphology of the chest musculature", "abnormality of the chest musculature", "muscle issue in the chest", "muscle issues in the chest" ], "HP:0410168": [ "abnormality of the back musculature", "muscle issue in the back", "muscle issues in the back" ], "HP:0410169": [ "abnormal morphology of the shoulder musculature", "abnormality of the shoulder musculature", "muscle issue in the shoulder", "muscle issues in the shoulder" ], "HP:0410170": [ "hippocampal atrophy", "atrophy of the hippocampus", "degeneration of the hippocampus" ], "HP:0410171": [ "increase cotinine level", "increased cotinine level" ], "HP:0410172": [ "blood xenobiotic" ], "HP:0410173": [ "increase circulate troponin i concentration", "increased circulating troponin i concentration", "increase troponin i level in blood", "increased troponin i level in blood" ], "HP:0410174": [ "increase circulate troponin t concentration", "increased circulating troponin t concentration", "increase troponin t level in blood", "increased troponin t level in blood" ], "HP:0410175": [ "hyperketonemia", "elevate circulate ketone body concentration", "elevated circulating ketone body concentration", "increase level of ketone body in blood", "increased level of ketone bodies in blood", "ketonemia" ], "HP:0410176": [ "abnormal glucose - 6 - phosphate dehydrogenase level", "abnormal g6pd level" ], "HP:0410177": [ "abnormal glucose - 6 - phosphate dehydrogenase level in blood", "abnormal g6pd level in blood" ], "HP:0410178": [ "increase glucose - 6 - phosphate dehydrogenase level in blood", "increased glucose - 6 - phosphate dehydrogenase level in blood", "increase g6pd level in blood", "increased g6pd level in blood" ], "HP:0410179": [ "decrease glucose - 6 - phosphate dehydrogenase level in blood", "decreased glucose - 6 - phosphate dehydrogenase level in blood", "decrease g6pd level in blood", "decreased g6pd level in blood" ], "HP:0410180": [ "abnormal glucose - 6 - phosphate dehydrogenase level in dried blood spot", "abnormal g6pd level in dried blood spot", "abnormal glucose - 6 - phosphate dehydrogenase level in db", "abnormal glucose - 6 - phosphate dehydrogenase level in dbs" ], "HP:0410181": [ "increase glucose - 6 - phosphate dehydrogenase level in dried blood spot", "increased glucose - 6 - phosphate dehydrogenase level in dried blood spot", "increase g6pd level in dried blood spot", "increased g6pd level in dried blood spot", "increase glucose - 6 - phosphate dehydrogenase level in db", "increased glucose - 6 - phosphate dehydrogenase level in dbs" ], "HP:0410182": [ "decrease glucose - 6 - phosphate dehydrogenase level in dried blood spot", "decreased glucose - 6 - phosphate dehydrogenase level in dried blood spot", "decrease g6pd level in dried blood spot", "decreased g6pd level in dried blood spot", "decrease glucose - 6 - phosphate dehydrogenase level in db", "decreased glucose - 6 - phosphate dehydrogenase level in dbs" ], "HP:0410183": [ "abnormal glucose - 6 - phosphate dehydrogenase level in leukocyte", "abnormal glucose - 6 - phosphate dehydrogenase level in leukocytes", "abnormal g6pd level in leukocyte", "abnormal g6pd level in leukocytes" ], "HP:0410184": [ "abnormal glucose - 6 - phosphate dehydrogenase level in red blood cell", "abnormal glucose - 6 - phosphate dehydrogenase level in red blood cells", "abnormal g6pd level in rbc", "abnormal g6pd level in rbcs", "abnormal g6pd level in red blood cell", "abnormal g6pd level in red blood cells" ], "HP:0410185": [ "abnormal glucose - 6 - phosphate dehydrogenase level in tissue", "abnormal g6pd level in tissue" ], "HP:0410186": [ "increase glucose - 6 - phosphate dehydrogenase level in tissue", "increased glucose - 6 - phosphate dehydrogenase level in tissue", "increase g6pd level in tissue", "increased g6pd level in tissue" ], "HP:0410187": [ "decrease glucose - 6 - phosphate dehydrogenase level in tissue", "decreased glucose - 6 - phosphate dehydrogenase level in tissue", "decrease g6pd level in tissue", "decreased g6pd level in tissue" ], "HP:0410188": [ "decrease glucose - 6 - phosphate dehydrogenase level in red blood cell", "decreased glucose - 6 - phosphate dehydrogenase level in red blood cells", "decrease g6pd level in rbc", "decreased g6pd level in rbcs", "decrease g6pd level in red blood cell", "decreased g6pd level in red blood cells" ], "HP:0410189": [ "increase glucose - 6 - phosphate dehydrogenase level in red blood cell", "increased glucose - 6 - phosphate dehydrogenase level in red blood cells", "increase g6pd level in rbc", "increased g6pd level in rbcs", "increase g6pd level in red blood cell", "increased g6pd level in red blood cells" ], "HP:0410190": [ "decrease glucose - 6 - phosphate dehydrogenase level in leukocyte", "decreased glucose - 6 - phosphate dehydrogenase level in leukocytes", "decrease g6pd level in leukocyte", "decreased g6pd level in leukocytes" ], "HP:0410191": [ "increase glucose - 6 - phosphate dehydrogenase level in leukocyte", "increased glucose - 6 - phosphate dehydrogenase level in leukocytes", "increase g6pd level in leukocyte", "increased g6pd level in leukocytes" ], "HP:0410192": [ "abnormal uridine diphosphate glucose - 4 - epimerase level", "abnormal udp - glucose 4 - epimerase level" ], "HP:0410193": [ "abnormal uridine diphosphate glucose - 4 - epimerase level in plasma", "abnormal udp - glucose 4 - epimerase activity level in plasma" ], "HP:0410194": [ "increase uridine diphosphate glucose - 4 - epimerase level in plasma", "increased uridine diphosphate glucose - 4 - epimerase level in plasma", "increase udp - glucose 4 - epimerase level in plasma", "increased udp - glucose 4 - epimerase level in plasma" ], "HP:0410195": [ "decrease uridine diphosphate glucose - 4 - epimerase level in plasma", "decreased uridine diphosphate glucose - 4 - epimerase level in plasma", "decrease udp - glucose 4 - epimerase level in plasma", "decreased udp - glucose 4 - epimerase level in plasma" ], "HP:0410196": [ "abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cell", "abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cells", "abnormal udp - glucose 4 - epimerase level in rbc", "abnormal udp - glucose 4 - epimerase level in rbcs", "abnormal udp - glucose 4 - epimerase level in red blood cell", "abnormal udp - glucose 4 - epimerase level in red blood cells" ], "HP:0410197": [ "increase uridine diphosphate glucose - 4 - epimerase level in red blood cell", "increased uridine diphosphate glucose - 4 - epimerase level in red blood cells", "increase udp - glucose 4 - epimerase level in rbc", "increased udp - glucose 4 - epimerase level in rbcs", "increase udp - glucose 4 - epimerase level in red blood cell", "increased udp - glucose 4 - epimerase level in red blood cells" ], "HP:0410198": [ "decrease uridine diphosphate glucose - 4 - epimerase level in red blood cell", "decreased uridine diphosphate glucose - 4 - epimerase level in red blood cells", "decrease udp - glucose 4 - epimerase level in rbc", "decreased udp - glucose 4 - epimerase level in rbcs", "decrease udp - glucose 4 - epimerase level in red blood cell", "decreased udp - glucose 4 - epimerase level in red blood cells" ], "HP:0410199": [ "increase csf urate concentration", "increased csf urate concentration", "elevate csf urate concentration", "elevated csf urate concentration", "increase cerebrospinal fluid urate", "increased cerebrospinal fluid urate" ], "HP:0410200": [ "positive meconium barbiturate test" ], "HP:0410201": [ "positive hair barbiturate test" ], "HP:0410202": [ "positive stool barbiturate test" ], "HP:0410203": [ "positive gastric fluid barbiturate test" ], "HP:0410204": [ "increase intestinal transit time", "increased intestinal transit time" ], "HP:0410205": [ "abnormal circulate nicotinurate concentration", "abnormal circulating nicotinurate concentration", "abnormal circulate n - nicotinoylglycine level", "abnormal circulating n - nicotinoylglycine level", "abnormal circulate nicotinurate level", "abnormal circulating nicotinurate level" ], "HP:0410206": [ "increase circulate nicotinurate level", "increased circulating nicotinurate level", "increase circulate n - nicotinoylglycine level", "increased circulating n - nicotinoylglycine level" ], "HP:0410207": [ "positive methadone plasma / serum test" ], "HP:0410208": [ "positive plasma / serum cotinine test" ], "HP:0410209": [ "folate deficiency in csf", "folate deficiency in cerebrospinal fluid" ], "HP:0410210": [ "abnormal cord blood measurement" ], "HP:0410211": [ "abnormal blood gas level in cord blood" ], "HP:0410212": [ "hyperoxemia in cord blood", "high cord blood oxygen level" ], "HP:0410213": [ "hypoxemia in cord blood", "low cord blood oxygen level" ], "HP:0410214": [ "hypercapnia in cord blood", "high cord blood carbon dioxide level" ], "HP:0410215": [ "hypocapnia in cord blood", "low cord blood carbon dioxide level" ], "HP:0410216": [ "abnormal blood 5 - methyltetrahydrofolate level", "abnormal serum methylfolate level" ], "HP:0410217": [ "reduce blood 5 - methyltetrahydrofolate level", "reduced blood 5 - methyltetrahydrofolate level", "reduce serum methylfolate level", "reduced serum methylfolate level" ], "HP:0410218": [ "hypoplasia of maxilla relative to mandible", "disorder of maxillary and mandibular dental arch relationship" ], "HP:0410219": [ "hypoplasia of mandible relative to maxilla", "disorder of mandibular and maxillary dental arch relationship" ], "HP:0410220": [ "increase anti - dairy protein ige antibody level", "increased anti - dairy protein ige antibody level", "increase anti - dairy ige antibody level", "increased anti - dairy ige antibody level" ], "HP:0410221": [ "increase anti - animal protein ige antibody level", "increased anti - animal protein ige antibody level", "increase level of anti - animal protein ige antibody", "increased level of anti - animal protein ige antibody" ], "HP:0410222": [ "increase anti - seafood ige antibody level", "increased anti - seafood ige antibody level", "increase level of anti - seafood ige antibody", "increased level of anti - seafood ige antibody" ], "HP:0410223": [ "increase anti - dust mite ige antibody level", "increased anti - dust mite ige antibody level", "increase level of anti - dust mite ige antibody", "increased level of anti - dust mite ige antibody" ], "HP:0410224": [ "increase anti - bacteria ige antibody level", "increased anti - bacteria ige antibody level", "increase level of anti - bacteria ige antibody", "increased level of anti - bacteria ige antibody" ], "HP:0410225": [ "increase anti - drug ige antibody level", "increased anti - drug ige antibody level", "increase level of anti - drug ige antibody", "increased level of anti - drug ige antibody" ], "HP:0410226": [ "increase anti - feather ige antibody level", "increased anti - feather ige antibody level" ], "HP:0410227": [ "increase anti - food allergen ige antibody level", "increased anti - food allergen ige antibody level", "increase level of anti - food allergen ige antibody", "increased level of anti - food allergen ige antibody" ], "HP:0410228": [ "increase anti - plant base food allergen ige antibody level", "increased anti - plant based food allergen ige antibody level", "increase level of anti - plant base food allergen ige antibody", "increased level of anti - plant based food allergen ige antibody" ], "HP:0410229": [ "increase anti - gluten ige antibody level", "increased anti - gluten ige antibody level", "increase level of anti - gluten ige antibody", "increased level of anti - gluten ige antibody" ], "HP:0410230": [ "increase anti - nut food product ige antibody level", "increased anti - nut food product ige antibody level" ], "HP:0410231": [ "increase anti - egg ige antibody level", "increased anti - egg ige antibody level" ], "HP:0410232": [ "increase anti - fungi ige antibody level", "increased anti - fungi ige antibody level", "increase anti - fungal ige antibody level", "increased anti - fungal ige antibody level", "increase anti - fungus ige antibody level", "increased anti - fungus ige antibody level" ], "HP:0410233": [ "increase anti - meat allergen ige antibody level", "increased anti - meat allergen ige antibody level" ], "HP:0410234": [ "increase anti - parasite ige antibody level", "increased anti - parasite ige antibody level" ], "HP:0410235": [ "increase anti - insect ige antibody level", "increased anti - insect ige antibody level" ], "HP:0410236": [ "increase anti - venom ige antibody level", "increased anti - venom ige antibody level" ], "HP:0410238": [ "increase anti - plant product ige antibody level", "increased anti - plant product ige antibody level" ], "HP:0410239": [ "positive urine norcotinine test" ], "HP:0410240": [ "abnormal circulate iga level", "abnormal circulating iga level", "abnormal iga level in blood" ], "HP:0410241": [ "abnormal circulate ige level", "abnormal circulating ige level", "abnormal ige level in blood" ], "HP:0410242": [ "abnormal circulate igg level", "abnormal circulating igg level", "abnormal igg level in blood" ], "HP:0410243": [ "abnormal circulate igm level", "abnormal circulating igm level", "abnormal igm level in blood" ], "HP:0410244": [ "abnormal circulate igd level", "abnormal circulating igd level", "abnormal igd level in blood" ], "HP:0410245": [ "decrease circulating igd", "decreased circulating igd", "decrease igd", "decreased igd", "decrease igd in blood", "decreased igd in blood", "igd deficiency" ], "HP:0410246": [ "increase circulate igd level", "increased circulating igd level", "elevate igd", "elevated igd", "elevate serum igd", "elevated serum igd", "igd hypergammaglobulinemia", "increase igd level", "increased igd level", "increased level of igd", "increased levels of igd", "increase serum igd", "increased serum igd" ], "HP:0410247": [ "increase anti - animal dander ige antibody level", "increased anti - animal dander ige antibody level", "increase level of anti - dander ige antibody", "increased level of anti - dander ige antibody" ], "HP:0410248": [ "increase anti - house dust mite ige antibody level", "increased anti - house dust mite ige antibody level", "increase anti - house dust ige antibody level", "increased anti - house dust ige antibody level", "increase level of anti - house dust ige antibody", "increased level of anti - house dust ige antibody" ], "HP:0410249": [ "increase anti - alpha - gal ige antibody level", "increased anti - alpha - gal ige antibody level", "increase anti - galactose - alpha - 1 , 3 galactose ige antibody level", "increased anti - galactose - alpha - 1 , 3 galactose ige antibody level" ], "HP:0410251": [ "abnormal l - selectin shed", "abnormal l - selectin shedding" ], "HP:0410252": [ "chronic neutropenia" ], "HP:0410253": [ "myeloid maturation arrest", "myeloid maturation arrest in bone marrow" ], "HP:0410254": [ "cyclic neutropenia in myeloid maturation arrest in bone marrow" ], "HP:0410255": [ "transient neutropenia" ], "HP:0410256": [ "infection associate neutropenia", "infection associated neutropenia" ], "HP:0410257": [ "neutrophilia in presence of infection" ], "HP:0410258": [ "neutrophilia in absence of infection" ], "HP:0410259": [ "hepatopulmonary fusion", "hepatic pulmonary fusion" ], "HP:0410260": [ "asymmetrical gluteal crease", "asymmetrical buttock crease", "asymmetrical gluteal sulcus", "asymmetrical horizontal gluteal crease" ], "HP:0410261": [ "wide space between 4th and 5th toe", "wide space between the 4th and 5th toe" ], "HP:0410262": [ "low cranial nerve dysfunction", "lower cranial nerve dysfunction", "abnormal low cranial nerve function", "abnormal lower cranial nerve function" ], "HP:0410263": [ "brain imaging abnormality", "abnormal brain imaging" ], "HP:0410264": [ "subglottic hemangioma", "airway hemangioma" ], "HP:0410265": [ "supraglottic hemangioma" ], "HP:0410266": [ "visceral hemangioma" ], "HP:0410267": [ "intestinal hemangioma", "bowel hemangioma" ], "HP:0410268": [ "spleen hemangioma", "splenic hemangioma" ], "HP:0410269": [ "labial hemangioma" ], "HP:0410270": [ "esophageal hemangioma" ], "HP:0410271": [ "laryngeal hemangioma", "throat hemangioma" ], "HP:0410272": [ "vulvar hemangioma" ], "HP:0410273": [ "retropharyngeal hemangioma" ], "HP:0410274": [ "paraspinal hemangioma" ], "HP:0410275": [ "lumbosacral hemangioma", "lumbar / sacral hemangioma" ], "HP:0410276": [ "supraumbilical raphe", "midline supraumbilical raphe" ], "HP:0410277": [ "sternal pit" ], "HP:0410278": [ "pituitary gland cyst", "cyst of the pituitary gland" ], "HP:0410279": [ "atrophic pituitary gland", "atrophic pituitary", "pituitary gland atrophy" ], "HP:0410280": [ "pediatric onset", "onset before adulthood", "paediatric onset" ], "HP:0410281": [ "dyspepsia", "indigestion" ], "HP:0410282": [ "abnormal circulate amylase level", "abnormal circulating amylase level" ], "HP:0410283": [ "positive blood acetaminophen test", "positive blood paracetamol test", "positive blood tylenol test" ], "HP:0410284": [ "positive norpropoxyphene blood test" ], "HP:0410285": [ "positive meconium methadone test" ], "HP:0410286": [ "positive blood molindone test", "positive blood moban test" ], "HP:0410287": [ "intrathoracic hemangioma", "chest hemangioma" ], "HP:0410288": [ "hyperamylasemia", "increase circulate amylase level", "increased circulating amylase level" ], "HP:0410289": [ "hypoamylasemia", "decrease circulate amylase level", "decreased circulating amylase level" ], "HP:0410290": [ "positive urine norpropoxyphene test" ], "HP:0410291": [ "negativism" ], "HP:0410292": [ "abnormal isohemagglutinin level", "abnormal level of natural antibody to blood group agent", "abnormal level of natural antibody to blood group agents", "abnormal natural antibody level to blood group antigen in blood ( isohemagglutinin )", "abnormal natural antibody level to blood group antigens in blood ( isohemagglutinin )" ], "HP:0410293": [ "absent isohemagglutinin level", "absent natural antibody to blood group agent", "absent natural antibody to blood group agents", "complete or near - complete absence of isohemagglutinins" ], "HP:0410294": [ "decrease specific antibody response to protein vaccine", "decreased specific antibody response to protein vaccine" ], "HP:0410295": [ "complete or near - complete absence of specific antibody response to tetanus vaccine" ], "HP:0410296": [ "complete or near - complete absence of specific antibody response to hepatitis b vaccine" ], "HP:0410297": [ "partial absence of specific antibody response to tetanus vaccine" ], "HP:0410298": [ "partial absence of specific antibody response to hepatitis b vaccine" ], "HP:0410299": [ "decrease specific antibody response to polysaccharide vaccine", "decreased specific antibody response to polysaccharide vaccine" ], "HP:0410300": [ "complete or near - complete absence of specific antibody response to unconjugated pneumococcus vaccine" ], "HP:0410301": [ "partial absence of specific antibody response to unconjugated pneumococcus vaccine" ], "HP:0410302": [ "decrease specific antibody response to protein - conjugate polysaccharide vaccine", "decreased specific antibody response to protein - conjugated polysaccharide vaccine" ], "HP:0410303": [ "complete or near - complete absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine" ], "HP:0410304": [ "complete or near - complete absence of specific antibody response to meningococcus vaccine" ], "HP:0410305": [ "partial absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine" ], "HP:0410306": [ "partial absence of specific antibody response to meningococcus vaccine" ], "HP:0410307": [ "positive stool methadone test" ], "HP:0410308": [ "decrease specific antibody response to infection", "decreased specific antibody response to infection" ], "HP:0410309": [ "alpha - aminoadipic aciduria", "2 - aminoadipic aciduria" ], "HP:0410310": [ "abnormality of neutrophil morphology in csf", "abnormality of neutrophil morphology in cerebrospinal fluid" ], "HP:0410311": [ "hyposegmentation of neutrophil nucleus in csf", "hyposegmentation of neutrophil nuclei in csf", "hyposegmentation of neutrophil nucleus in cerebrospinal fluid", "hyposegmentation of neutrophil nuclei in cerebrospinal fluid" ], "HP:0410312": [ "hypersegmentation of neutrophil nucleus in csf", "hypersegmentation of neutrophil nuclei in csf", "hypersegmentation of neutrophil nucleus in cerebrospinal fluid", "hypersegmentation of neutrophil nuclei in cerebrospinal fluid" ], "HP:0410313": [ "abnormal urinary 1 - methylhistidine concentration" ], "HP:0410314": [ "decrease urinary 1 - methylhistidine", "decreased urinary 1 - methylhistidine" ], "HP:0410315": [ "increase urinary 1 - methylhistidine", "increased urinary 1 - methylhistidine", "1 - methylhistidinuria" ], "HP:0410316": [ "abnormal urinary 3 - methylhistidine level" ], "HP:0410317": [ "increase urinary 3 - methylhistidine", "increased urinary 3 - methylhistidine", "3 - methylhistidinuria" ], "HP:0410318": [ "decrease urinary 3 - methylhistidine", "decreased urinary 3 - methylhistidine" ], "HP:0410319": [ "alpha - gal allergy", "allergy to alpha - gal", "ige - mediate alpha - gal allergy", "ige - mediated alpha - gal allergy", "immunoglobulin e - mediate alpha - gal allergy", "immunoglobulin e - mediated alpha - gal allergy" ], "HP:0410320": [ "animal protein allergy", "allergy to animal protein", "allergy to animal proteins", "ige - mediate animal protein allergy", "ige - mediated animal protein allergy", "immunoglobulin e - mediate animal protein allergy", "immunoglobulin e - mediated animal protein allergy" ], "HP:0410321": [ "animal dander allergy", "allergy to animal dander", "ige - mediate animal dander allergy", "ige - mediated animal dander allergy", "immunoglobulin e - mediate animal dander allergy", "immunoglobulin e - mediated animal dander allergy" ], "HP:0410322": [ "bacteria allergy", "allergy to bacteria", "ige - mediate bacteria allergy", "ige - mediated bacteria allergy", "immunoglobulin e - mediate bacteria allergy", "immunoglobulin e - mediated bacteria allergy" ], "HP:0410323": [ "drug allergy", "allergy to drug", "allergy to drugs", "ige - mediate drug allergy", "ige - mediated drug allergy", "immunoglobulin e - mediate drug allergy", "immunoglobulin e - mediated drug allergy" ], "HP:0410324": [ "dust mite allergy", "allergy to dust mite", "allergy to dust mites", "ige - mediate dust mite allergy", "ige - mediated dust mite allergy", "immunoglobulin e - mediate dust mite allergy", "immunoglobulin e - mediated dust mite allergy" ], "HP:0410325": [ "house dust mite allergy", "allergy to house dust mite", "allergy to house dust mites", "ige - mediate house dust mite allergy", "ige - mediated house dust mite allergy", "immunoglobulin e - mediate house dust mite allergy", "immunoglobulin e - mediated house dust mite allergy" ], "HP:0410326": [ "feather allergy", "allergy to feather", "allergy to feathers", "ige - mediate feather allergy", "ige - mediated feather allergy", "immunoglobulin e - mediate feather allergy", "immunoglobulin e - mediated feather allergy" ], "HP:0410327": [ "dairy allergy", "allergy to dairy", "ige - mediate dairy allergy", "ige - mediated dairy allergy", "immunoglobulin e - mediate dairy allergy", "immunoglobulin e - mediated dairy allergy" ], "HP:0410328": [ "egg allergy", "allergy to egg", "allergy to eggs", "ige - mediate egg allergy", "ige - mediated egg allergy", "immunoglobulin e - mediate egg allergy", "immunoglobulin e - mediated egg allergy" ], "HP:0410329": [ "gluten allergy", "allergy to gluten", "ige - mediate gluten allergy", "ige - mediated gluten allergy", "immunoglobulin e - mediate gluten allergy", "immunoglobulin e - mediated gluten allergy" ], "HP:0410330": [ "meat allergen allergy", "allergy to meat allergen", "allergy to meat allergens", "ige - mediate meat allergen allergy", "ige - mediated meat allergen allergy", "immunoglobulin e - mediate meat allergen allergy", "immunoglobulin e - mediated meat allergen allergy", "meat allergy" ], "HP:0410331": [ "nut food product allergy", "allergy to nut food product", "allergy to nut food products", "ige - mediate nut food product allergy", "ige - mediated nut food product allergy", "immunoglobulin e - mediate nut food product allergy", "immunoglobulin e - mediated nut food product allergy", "nut allergy" ], "HP:0410332": [ "plant base food allergy", "plant based food allergy", "allergy to plant base food allergen", "allergy to plant based food allergens", "ige - mediate plant base food allergen allergy", "ige - mediated plant based food allergen allergy", "immunoglobulin e - mediate plant base food allergen allergy", "immunoglobulin e - mediated plant based food allergen allergy" ], "HP:0410333": [ "seafood allergy", "allergy to seafood", "ige - mediate seafood allergy", "ige - mediated seafood allergy", "immunoglobulin e - mediate seafood allergy", "immunoglobulin e - mediated seafood allergy" ], "HP:0410334": [ "fungi allergy", "allergy to fungi", "fungal allergy", "fungus allergy", "ige - mediate fungi allergy", "ige - mediated fungi allergy", "immunoglobulin e - mediate fungi allergy", "immunoglobulin e - mediated fungi allergy" ], "HP:0410335": [ "insect allergy", "allergy to insect", "allergy to insects", "ige - mediate insect allergy", "ige - mediated insect allergy", "immunoglobulin e - mediate insect allergy", "immunoglobulin e - mediated insect allergy" ], "HP:0410336": [ "venom allergy", "allergy to venom", "ige - mediate venom allergy", "ige - mediated venom allergy", "immunoglobulin e - mediate venom allergy", "immunoglobulin e - mediated venom allergy" ], "HP:0410337": [ "parasite allergy", "allergy to parasite", "allergy to parasites", "ige - mediate parasite allergy", "ige - mediated parasite allergy", "immunoglobulin e - mediate parasite allergy", "immunoglobulin e - mediated parasite allergy" ], "HP:0410338": [ "plant product allergy", "allergy to plant product", "allergy to plant products", "ige - mediate plant product allergy", "ige - mediated plant product allergy", "immunoglobulin e - mediate plant product allergy", "immunoglobulin e - mediated plant product allergy" ], "HP:0410339": [ "insect bite allergy", "allergy to insect bite", "allergy to insect bites", "ige - mediate insect bite allergy", "ige - mediated insect bite allergy", "immunoglobulin e - mediate insect bite allergy", "immunoglobulin e - mediated insect bite allergy" ], "HP:0410340": [ "focal epithelial hyperplasia of oral mucosa", "focal epithelial hyperplasia of the lining of mouth", "oral mucosa epithelial hyperplasia" ], "HP:0410341": [ "abnormal circulate heparan sulfate level", "abnormal circulating heparan sulfate level", "abnormal circulate heparan sulphate level", "abnormal circulating heparan sulphate level", "abnormality of the concentration of heparan sulfate in the blood", "abnormality of the concentration of heparan sulphate in the blood" ], "HP:0410342": [ "increase circulate heparan sulfate level", "increased circulating heparan sulfate level", "increase blood heparan sulfate concentration", "increased blood heparan sulfate concentration", "increase blood heparan sulphate concentration", "increased blood heparan sulphate concentration", "increase circulate heparan sulphate level", "increased circulating heparan sulphate level" ], "HP:0410343": [ "decrease circulate heparan sulfate level", "decreased circulating heparan sulfate level", "decrease blood heparan sulfate concentration", "decreased blood heparan sulfate concentration", "decrease blood heparan sulphate concentration", "decreased blood heparan sulphate concentration", "decrease circulate heparan sulphate level", "decreased circulating heparan sulphate level" ], "HP:0410344": [ "shorten o - fucosylated glycan on properdin", "shortened o - fucosylated glycan on properdin", "presence of terminal o - fucose glycans on properdin" ], "HP:0410345": [ "increase urinary polyhexose", "increased urinary polyhexose", "increase polyhexose concentration in urine", "increased polyhexose concentration in urine" ], "HP:0410346": [ "increase urinary galactosylated oligosaccharide", "increased urinary galactosylated oligosaccharide", "increase concentration of galactosylated oligosaccharide in urine", "increased concentration of galactosylated oligosaccharides in urine" ], "HP:0410347": [ "increase urinary high - mannose - type oligosaccharide", "increased urinary high - mannose - type oligosaccharide", "increase concentration of high - mannose - type oligosaccharide in urine", "increased concentration of high - mannose - type oligosaccharides in urine" ], "HP:0410348": [ "increase urinary multiantennary sialylated oligosaccharide", "increased urinary multiantennary sialylated oligosaccharide", "increase concentration of multiantennary sialylated oligosaccharide in urine", "increase concentration of multiantennary sialylated oligosaccharides in urine" ], "HP:0410349": [ "decreased glycosyltransferase o - fucosylpeptide 3 - beta - n - acetylglucosaminyltransferase level" ], "HP:0410350": [ "increase urinary fucosylated oligosaccharide", "increased urinary fucosylated oligosaccharide", "increase concentration of fucosylated oligosaccharide in urine", "increased concentration of fucosylated oligosaccharides in urine" ], "HP:0410351": [ "abnormal complex n - glycan level", "abnormal concentration of complex n - glycans on glycoprotein", "abnormal concentration of complex n - glycans on glycoproteins" ], "HP:0410352": [ "increase complex n - glycan level", "increased complex n - glycan level", "increase concentration of complex n - glycans on glycoprotein", "increased concentration of complex n - glycans on glycoproteins" ], "HP:0410353": [ "decrease complex n - glycan level", "decreased complex n - glycan level", "increase truncate complex n - glycans on glycoprotein", "increased truncated complex n - glycans on glycoproteins" ], "HP:0410354": [ "increase sialylated n - glycan level", "increased sialylated n - glycan level", "increase concentration of sialylated n - glycans on glycoprotein", "increased concentration of sialylated n - glycans on glycoproteins" ], "HP:0410355": [ "decrease sialylated n - glycan level", "decreased sialylated n - glycan level", "decreased concentration of sialylated n - glycans on glycoprotein", "decreased concentration of sialylated n - glycans on glycoproteins" ], "HP:0410356": [ "abnormal high - mannose n - glycan level", "abnormal high - mannose n - glycans on glycoprotein concentration" ], "HP:0410357": [ "increase high - mannose n - glycan level", "increased high - mannose n - glycan level", "increase high - mannose n - glycans on glycoprotein concentration", "increased high - mannose n - glycans on glycoprotein concentration" ], "HP:0410358": [ "decrease high - mannose n - glycan level", "decreased high - mannose n - glycan level", "decrease high - mannose n - glycans on glycoprotein concentration", "decreased high - mannose n - glycans on glycoprotein concentration" ], "HP:0410359": [ "abnormal core 1 o - glycan level", "abnormal concentration of t - antigen" ], "HP:0410360": [ "increase core 1 o - glycan level", "increased core 1 o - glycan level", "increase t - antigen concentration", "increased t - antigen concentration" ], "HP:0410361": [ "decrease core 1 o - glycan level", "decreased core 1 o - glycan level", "decrease t - antigen concentration", "decreased t - antigen concentration" ], "HP:0410362": [ "decrease o - mannosyl glycans on alpha - dystroglycan", "decreased o - mannosyl glycans on alpha - dystroglycan", "reduce o - mannosyl glycans on alpha - dystroglycan", "reduced o - mannosyl glycans on alpha - dystroglycan" ], "HP:0410363": [ "increase monosialylated core 1 o - glycan level", "increased monosialylated core 1 o - glycan level", "increase sialyl t - antigen concentration", "increased sialyl t - antigen concentration" ], "HP:0410364": [ "decrease monosialylated core 1 o - glycan level", "decreased monosialylated core 1 o - glycan level", "decrease sialyl t - antigen concentration", "decreased sialyl t - antigen concentration" ], "HP:0410365": [ "increase disialylated core 1 o - glycan level", "increased disialylated core 1 o - glycan level", "increase disialyl t - antigen concentration", "increased disialyl t - antigen concentration" ], "HP:0410366": [ "increase globoside gb4 level", "increased globoside gb4 level", "increase globoside gb4 concentration", "increased globoside gb4 concentration" ], "HP:0410367": [ "increase hepatitis a virus antibody level", "increased hepatitis a virus antibody level" ], "HP:0410368": [ "increase globoside gb3 level", "increased globoside gb3 level", "increase globoside gb3 concentration", "increased globoside gb3 concentration" ], "HP:0410369": [ "increase hepatitis b virus antibody level", "increased hepatitis b virus antibody level" ], "HP:0410370": [ "absence of ganglioside gm3" ], "HP:0410371": [ "increase hepatitis c virus antibody level", "increased hepatitis c virus antibody level" ], "HP:0410372": [ "increase tn - antigen level", "increased tn - antigen level", "increase o - galnac on glycoprotein concentration", "increased o - galnac on glycoprotein concentration" ], "HP:0410373": [ "abnormal proportion of naive cd4 t cell", "abnormal proportion of naive cd4 t cells", "abnormal proportion of cd4+cd45ra+ cell", "abnormal proportion of cd4+cd45ra+ cells", "abnormal proportion of naive thymus - derive cd4 - positive , alpha - beta t cell", "abnormal proportion of naive thymus - derived cd4 - positive , alpha - beta t cells" ], "HP:0410374": [ "abnormal proportion of naive cd8 t cell", "abnormal proportion of naive cd8 t cells" ], "HP:0410375": [ "increase proportion of naive cd4 t cell", "increased proportion of naive cd4 t cells", "elevate proportion of naive cd4 t cell", "elevated proportion of naive cd4 t cells", "increase proportion of cd4+cd45ra+ cell", "increased proportion of cd4+cd45ra+ cells", "increase proportion of naive thymus - derive cd4 - positive , alpha - beta t cell", "increased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells" ], "HP:0410376": [ "increase proportion of naive cd8 t cell", "increased proportion of naive cd8 t cells", "elevate proportion of naive cd8 t cell", "elevated proportion of naive cd8 t cells", "elevate proportion of naive thymus - derive cd8 - positive , alpha - beta t cell", "elevated proportion of naive thymus - derived cd8 - positive , alpha - beta t cells" ], "HP:0410377": [ "decreased proportion of naive cd8 t cell", "decreased proportion of naive cd8 t cells", "reduce proportion of naive cd8 t cell", "reduced proportion of naive cd8 t cells", "reduce proportion of naive thymus - derive cd8 - positive , alpha - beta t cell", "reduced proportion of naive thymus - derived cd8 - positive , alpha - beta t cells" ], "HP:0410378": [ "decreased proportion of naive cd4 t cell", "decreased proportion of naive cd4 t cells", "decreased proportion of cd4+cd45ra+ cell", "decreased proportion of cd4+cd45ra+ cells", "decreased proportion of naive thymus - derive cd4 - positive , alpha - beta t cell", "decreased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells", "reduce proportion of naive cd4 t cell", "reduced proportion of naive cd4 t cells" ], "HP:0410379": [ "abnormal proportion of cd4 - positive , alpha - beta memory t cell", "abnormal proportion of cd4 - positive , alpha - beta memory t cells" ], "HP:0410380": [ "abnormal proportion of cd8 - positive , alpha - beta memory t cell", "abnormal proportion of cd8 - positive , alpha - beta memory t cells" ], "HP:0410381": [ "abnormal proportion of central memory cd4 - positive , alpha - beta t cell", "abnormal proportion of central memory cd4 - positive , alpha - beta t cells" ], "HP:0410383": [ "abnormal proportion of effector memory cd8 - positive , alpha - beta t cell", "abnormal proportion of effector memory cd8 - positive , alpha - beta t cells" ], "HP:0410384": [ "abnormal proportion of central memory cd8 - positive , alpha - beta t cell", "abnormal proportion of central memory cd8 - positive , alpha - beta t cells" ], "HP:0410385": [ "decreased proportion of cd8 - positive , alpha - beta memory t cell", "decreased proportion of cd8 - positive , alpha - beta memory t cells" ], "HP:0410386": [ "decreased proportion of cd4 - positive , alpha - beta memory t cell", "decreased proportion of cd4 - positive , alpha - beta memory t cells" ], "HP:0410388": [ "obsolete decrease proportion of cd4+ central memory cell", "obsolete decreased proportion of cd4+ central memory cells", "decreased proportion of central memory cd4 - positive , alpha - beta t cell", "decreased proportion of central memory cd4 - positive , alpha - beta t cells", "decreased proportion of cd4+ central memory cell", "decreased proportion of cd4+ central memory cells", "decreased proportion of cd4 - positive central memory cell", "decreased proportion of cd4 - positive central memory cells", "decreased proportion of central memory cd4+ , alpha - beta t cell", "reduce proportion of cd4+ central memory cell", "reduced proportion of cd4+ central memory cells" ], "HP:0410389": [ "decreased proportion of central memory cd8 - positive , alpha - beta t cell", "decreased proportion of central memory cd8 - positive , alpha - beta t cells" ], "HP:0410390": [ "decreased proportion of effector memory cd8 - positive , alpha - beta t cell", "decreased proportion of effector memory cd8 - positive , alpha - beta t cells" ], "HP:0410391": [ "increase proportion of cd4 - positive , alpha - beta memory t cell", "increased proportion of cd4 - positive , alpha - beta memory t cells" ], "HP:0410392": [ "increase proportion of cd8 - positive , alpha - beta memory t cell", "increased proportion of cd8 - positive , alpha - beta memory t cells" ], "HP:0410393": [ "obsolete increase proportion of cd4+ central memory cell", "obsolete increased proportion of cd4+ central memory cells", "increase proportion of central memory cd4 - positive , alpha - beta t cell", "increased proportion of central memory cd4 - positive , alpha - beta t cells", "elevate proportion central memory cd4 - positive , alpha - beta t cell", "elevated proportion central memory cd4 - positive , alpha - beta t cells", "elevate proportion of cd4+ central memory cell", "elevated proportion of cd4+ central memory cells", "increase proportion of cd4+ central memory cell", "increased proportion of cd4+ central memory cells", "increase proportion of central memory cd4+ , alpha - beta t cell", "increased proportion of central memory cd4+ , alpha - beta t cell" ], "HP:0410394": [ "increase proportion of effector memory cd4 - positive , alpha - beta t cell", "increased proportion of effector memory cd4 - positive , alpha - beta t cells" ], "HP:0410395": [ "increase proportion of effector memory cd8 - positive , alpha - beta t cell", "increased proportion of effector memory cd8 - positive , alpha - beta t cells" ], "HP:0410396": [ "increase proportion of central memory cd8 - positive , alpha - beta t cell", "increased proportion of central memory cd8 - positive , alpha - beta t cells" ], "HP:0410397": [ "bronchiolectasis", "bronchiolectasia" ], "HP:0410399": [ "positive blood lead test", "increase blood lead level", "increased blood lead level" ], "HP:0410400": [ "absent sebaceous gland", "absent sebaceous glands", "absence of sebaceous gland", "absence of sebaceous glands" ], "HP:0410401": [ "bad in evening", "worse in evening" ], "HP:0430000": [ "abnormality of the frontal bone", "abnormal morphology of frontal bone", "abnormality of the bone of the forehead", "anomaly of the frontal bone", "deformity of the frontal bone", "malformation of the frontal bone" ], "HP:0430002": [ "abnormality of the lacrimal bone", "anomaly of the lacrimal bone", "deformity of the lacrimal bone", "malformation of the lacrimal bone" ], "HP:0430003": [ "abnormality of the palatine bone", "anomaly of the palatine bone", "deformity of the palatine bone", "malformation of the palatine bone" ], "HP:0430004": [ "frontomalar faciosynostosis" ], "HP:0430005": [ "abnormality of ethmoid bone", "anomaly of the ethmoid bone", "deformity of the ethmoid bone", "malformation of the ethmoid bone" ], "HP:0430006": [ "ectopic cilium of eyelid", "ectopic cilia of eyelid" ], "HP:0430007": [ "symblepharon", "eyelid adhesion to globe of eye", "eyelid stuck to eyeball" ], "HP:0430008": [ "accessory eyelid", "double eyelid", "extra eyelid" ], "HP:0430009": [ "hypoplasia of eyelid", "decreased size of eyelid", "short eyelid", "small eyelid", "underdevelopment of eyelid" ], "HP:0430010": [ "microblepharia", "abnormally small eyelid" ], "HP:0430011": [ "defect of palpebral conjunctiva" ], "HP:0430012": [ "incomplete ossification of palatine bone", "incomplete calcification of palatine bone", "incomplete formation of palatine bone", "incomplete mineralization of palatine bone" ], "HP:0430013": [ "absent palatine bone ossification", "absence of palatine bone calcification", "absence of palatine bone formation", "absence of palatine bone mineralization" ], "HP:0430014": [ "abnormality of musculature of soft palate", "abnormality of soft palate muscle", "abnormality of soft palate muscles" ], "HP:0430015": [ "abnormal morphology of musculature of pharynx", "abnormality of muscle of the pharynx", "abnormality of muscles of the pharynx", "abnormality of musculature of pharynx", "abnormality of pharyngeal musculature", "abnormality of pharynx musculature" ], "HP:0430016": [ "abnormality of tensor veli palatini muscle" ], "HP:0430017": [ "abnormality of uvular muscle", "abnormality of musculus uvula", "abnormality of musculus uvulae" ], "HP:0430018": [ "abnormality of nasal musculature", "abnormality of muscle of nose", "abnormality of musculature of the nose" ], "HP:0430019": [ "abnormality of muscle of facial expression", "abnormality of musculature of facial expression" ], "HP:0430020": [ "abnormality of levator labii superioris alaeque nasi muscle" ], "HP:0430021": [ "abnormal common carotid artery morphology", "abnormality of the common carotid artery" ], "HP:0430022": [ "abnormality of the sphenoid sinus", "abnormality of the sphenoidal sinus" ], "HP:0430023": [ "abnormality of the maxillary sinus", "abnormality of the antrum of highmore", "abnormality of the maxillary antrum", "abnormality of the upper jaw sinus" ], "HP:0430024": [ "abnormality of external jugular vein" ], "HP:0430025": [ "bilateral facial palsy", "bilateral facial muscle paralysis", "bilateral facial muscle weakness", "bilateral facial paralysis", "paralysis of both side of the face", "paralysis of both sides of the face", "weakness of both side of the face", "weakness of both sides of the face" ], "HP:0430026": [ "abnormality of the shape of the midface", "abnormal morphology of the midface", "dysmorphic midface" ], "HP:0430028": [ "hyperplasia of the maxilla", "big maxilla", "big upper jaw", "hyperplasia of upper jaw", "hypertrophy of maxilla", "hypertrophy of upper jaw", "increase projection of maxilla", "increased projection of maxilla", "increase projection of upper jaw", "increased projection of upper jaw", "increase size of maxilla", "increased size of maxilla", "increase size of upper jaw", "increased size of upper jaw", "large maxilla", "large upper jaw", "maxillary excess", "maxillary hyperplasia", "maxillary macrognathia", "maxillary prognathia", "maxillary prominence", "prognathia of the upper jaw", "prominent maxilla", "prominent upper jaw", "upper jaw bone excess", "upper jaw excess" ], "HP:0430029": [ "hyperplasia of the premaxilla", "hyperplasia of the intermaxillary bone", "hyperplasia of the primary palate bone", "increase size of premaxilla", "increased size of premaxilla", "increase size of the primary palate bone", "increased size of the primary palate bone", "large premaxilla", "large primary palate bone", "premaxillary excess", "primary palate bone excess" ], "HP:0500001": [ "body odor", "body odour", "bromhidrosis", "bromidrosis", "osmidrosis" ], "HP:0500005": [ "anal pain", "rectal pain" ], "HP:0500006": [ "urethritis" ], "HP:0500007": [ "iris flocculi" ], "HP:0500008": [ "cornea verticillata", "vortex keratopathy" ], "HP:0500009": [ "dysplastic gangliocytoma of the cerebellum", "lhermitte - duclos disease" ], "HP:0500011": [ "moon facies", "moon face", "puffy face", "puffy facies" ], "HP:0500012": [ "abnormality of gonadotropin - release hormone level", "abnormality of gonadotropin - releasing hormone level", "abnormality of gnrh level" ], "HP:0500013": [ "lack of gonadotropin - release hormone pulsatility", "lack of gonadotropin - releasing hormone pulsatility", "absence of gnrh pulsatility" ], "HP:0500014": [ "obsolete abnormal test result" ], "HP:0500015": [ "abnormal cardiac test" ], "HP:0500016": [ "abnormal cardiac mri", "abnormal cardiac magnetic resonance imaging", "abnormal heart mri" ], "HP:0500017": [ "abnormal cardiac catheterization", "abnormal cardiac cath" ], "HP:0500018": [ "abnormal cardiac exercise stress test", "abnormal cardiac exercise test", "abnormal exercise test", "abnormal treadmill test" ], "HP:0500019": [ "abnormal rest energy expenditure from metabolic cart test", "abnormal resting energy expenditure from metabolic cart test", "abnormal metabolic cart test" ], "HP:0500020": [ "abnormal cardiac biomarker test" ], "HP:0500021": [ "reduce brain gamma - aminobutyric acid level by mr", "reduced brain gamma - aminobutyric acid level by mrs" ], "HP:0500022": [ "abnormal circulate dehydroepiandrosterone concentration", "abnormal circulating dehydroepiandrosterone concentration", "abnormal serum androstenolone level", "abnormal serum dehydroepiandrosterone level", "abnormal serum dhea" ], "HP:0500023": [ "shoulder muscle aplasia", "absent shoulder muscle" ], "HP:0500024": [ "aplasia of the musculature of the pelvis" ], "HP:0500026": [ "hypoplasia of the musculature of the pelvis" ], "HP:0500027": [ "aplastic colon", "absence of the colon", "aplasia of the colon" ], "HP:0500028": [ "cotton wool plaque", "cotton wool plaques", "cwps" ], "HP:0500030": [ "abnormal hepatic glycogen storage" ], "HP:0500031": [ "sclerosis of the carpal bone", "sclerosis of the carpal bones" ], "HP:0500032": [ "abnormal neuron branching", "aberrant neuronal branching", "abnormal neuronal branching" ], "HP:0500033": [ "abnormal natural killer subset distribution" ], "HP:0500034": [ "nasolacrimal sac obstruction" ], "HP:0500035": [ "nasolacrimal sac granuloma" ], "HP:0500036": [ "nasolacrimal sac papilloma" ], "HP:0500037": [ "nasolacrimal sac epithelial papillary carcinoma" ], "HP:0500039": [ "conjunctival cicatrization", "cicatricial conjunctivitis", "cicatrizating conjunctivitis", "conjunctival cicatricial conjunctivitis" ], "HP:0500040": [ "dermolipoma of the conjunctiva", "conjunctival lipodermoid" ], "HP:0500041": [ "myopic astigmatism" ], "HP:0500042": [ "latent hypermetropia", "latent hyperopia" ], "HP:0500043": [ "eyelid retraction" ], "HP:0500044": [ "upper eyelid retraction" ], "HP:0500045": [ "collier 's sign" ], "HP:0500046": [ "seborrhoeic blepharitis" ], "HP:0500047": [ "nasolacrimal sac lymphoma" ], "HP:0500048": [ "delay canalization of nasolacrimal duct", "delayed canalization of nasolacrimal duct" ], "HP:0500049": [ "retinopathy of prematurity" ], "HP:0500050": [ "retinopathy of prematurity stage 1", "rop stage 1" ], "HP:0500051": [ "retinopathy of prematurity stage 2", "rop stage 2" ], "HP:0500052": [ "retinopathy of prematurity stage 3", "rop stage 3" ], "HP:0500053": [ "retinopathy of prematurity stage 4", "rop stage 4" ], "HP:0500054": [ "retinopathy of prematurity stage 4a", "rop stage 4a" ], "HP:0500055": [ "retinopathy of prematurity stage 4b", "rop 4b" ], "HP:0500056": [ "retinopathy of prematurity stage 5", "rop stage 5" ], "HP:0500057": [ "retinopathy of prematurity stage 5a", "rop stage 5a" ], "HP:0500058": [ "retinopathy of prematurity stage 5b", "rop stage 5b" ], "HP:0500059": [ "retinopathy of prematurity zone i", "rop zone 1" ], "HP:0500060": [ "retinopathy of prematurity zone ii", "rop zone ii" ], "HP:0500061": [ "retinopathy of prematurity zone iii", "rop zone iii" ], "HP:0500062": [ "retinopathy of prematurity plus", "rop plus" ], "HP:0500063": [ "retinopathy of prematurity pre - plus", "rop pre - plus" ], "HP:0500064": [ "retinopathy of prematurity threshold", "rop threshold" ], "HP:0500065": [ "retinopathy of prematurity prethreshold", "rop prethreshold" ], "HP:0500066": [ "latent myopia" ], "HP:0500069": [ "paralytic ectropion" ], "HP:0500070": [ "conjunctival dermolipoma" ], "HP:0500072": [ "absolute eccentric fixation" ], "HP:0500073": [ "abnormal ocular alignment" ], "HP:0500074": [ "dissociated vertical deviation" ], "HP:0500075": [ "dissociate horizontal deviation", "dissociated horizontal deviation" ], "HP:0500076": [ "alternate hypertropia", "alternating hypertropia" ], "HP:0500077": [ "alternate hyperphoria", "alternating hyperphoria" ], "HP:0500078": [ "alternate hypotropia", "alternating hypotropia" ], "HP:0500079": [ "alternate hypophoria", "alternating hypophoria" ], "HP:0500081": [ "pseudophakia" ], "HP:0500086": [ "optic nerve gray crescent", "optic nerve grey crescent", "temporal gray pigmentary crescent", "temporal grey pigmentary crescent" ], "HP:0500087": [ "peripapillary atrophy" ], "HP:0500088": [ "foveal depigmentation" ], "HP:0500089": [ "optic nerve sheath meningioma" ], "HP:0500090": [ "periocular capillary hemangioma", "peri - ocular capillary hemangioma" ], "HP:0500091": [ "lymphangioma of the orbit" ], "HP:0500092": [ "orbital rhabdomyosarcoma" ], "HP:0500093": [ "food allergy", "ige - mediate food allergy", "ige - mediated food allergy", "immunoglobulin e - mediate food allergy", "immunoglobulin e - mediated food allergy" ], "HP:0500094": [ "latex allergy" ], "HP:0500095": [ "food - induced anaphylaxis" ], "HP:0500096": [ "venom - induced anaphylaxis" ], "HP:0500097": [ "stool xenobiotic" ], "HP:0500098": [ "meconium xenobiotic" ], "HP:0500099": [ "hair xenobiotic" ], "HP:0500100": [ "plasma / serum xenobiotic" ], "HP:0500101": [ "gastric fluid xenobiotic" ], "HP:0500104": [ "decrease diastolic blood pressure", "decreased diastolic blood pressure", "decrease diastolic bp", "decreased diastolic bp", "reduce diastolic blood pressure", "reduced diastolic blood pressure" ], "HP:0500105": [ "decrease systolic blood pressure", "decreased systolic blood pressure", "decrease systolic bp", "decreased systolic bp", "reduce systolic blood pressure", "reduced systolic blood pressure" ], "HP:0500106": [ "isolate systolic hypertension", "isolated systolic hypertension" ], "HP:0500107": [ "isolate diastolic hypotension", "isolated diastolic hypotension" ], "HP:0500108": [ "positive urine cocaine test" ], "HP:0500109": [ "positive urine barbiturate test" ], "HP:0500110": [ "positive urine cannabinoid test", "positive urine marijuana test", "postive urine pot test" ], "HP:0500111": [ "positive urine benzodiazepine test", "positive urine benzodiazepines test" ], "HP:0500112": [ "positive urine amphetamine test" ], "HP:0500113": [ "positive urine opioid test" ], "HP:0500114": [ "abnormal stool urobilinogen concentration" ], "HP:0500115": [ "increase stool urobilinogen concentration", "increased stool urobilinogen concentration" ], "HP:0500116": [ "positive blood barbiturate test" ], "HP:0500117": [ "abnormal csf urate concentration" ], "HP:0500132": [ "hypovalinemia", "low blood valine concentration" ], "HP:0500133": [ "hypotyrosinemia", "decrease tyrosine in blood", "decreased tyrosine in blood", "low blood tyrosine concentration" ], "HP:0500134": [ "hypertryptophanemia", "high blood tryptophan concentration", "increase tryptophan in blood", "increased tryptophan in blood" ], "HP:0500135": [ "hypotryptophanemia", "decrease tryptophan in blood", "decreased tryptophan in blood", "low blood tryptophan concentration" ], "HP:0500136": [ "hypothreoninemia", "decrease circulate threonine level", "decreased circulating threonine levels", "decrease threonine blood level", "decreased threonine blood levels", "low blood threonine concentration" ], "HP:0500138": [ "hyperserinemia", "elevate circulate serine level", "elevated circulating serine levels", "high blood serine level", "high blood serine levels", "increase serine blood concentration", "increased serine blood concentration" ], "HP:0500139": [ "hypoprolinemia", "decrease blood proline level", "decreased blood proline levels", "low blood proline concentration" ], "HP:0500140": [ "decrease circulate hydroxyproline concentration", "decreased circulating hydroxyproline concentration", "decrease hydroxyproline in the blood", "decreased hydroxyproline in the blood", "low level of hydroxyproline in the blood" ], "HP:0500141": [ "hypophenylalaninemia", "decrease blood phenylalanine", "decreased blood phenylalanine", "low blood phenylalanine" ], "HP:0500142": [ "hypolysinemia", "decrease blood lysine", "decreased blood lysine", "low blood lysine level", "low blood lysine levels" ], "HP:0500143": [ "hypoleucinemia", "decrease blood concentration of leucine", "decreased blood concentration of leucine", "low blood leucine level", "low blood leucine levels" ], "HP:0500144": [ "hypoisoleucinemia", "decrease blood isoleucine concentration", "decreased blood isoleucine concentration", "low blood isoleucine level", "low blood isoleucine levels" ], "HP:0500145": [ "hypohistidinemia", "decrease blood histidine concentration", "decreased blood histidine concentration", "low blood histidine level", "low blood histidine levels" ], "HP:0500147": [ "hypoglutaminemia", "decrease blood glutamine concentration", "decreased blood glutamine concentration", "low blood glutamine level" ], "HP:0500148": [ "abnormal circulate glutamate concentration", "abnormal circulating glutamate concentration", "abnormality of glutamate metabolism" ], "HP:0500149": [ "hyperglutamatemia", "high blood glutamate level", "high blood glutamate levels", "increase blood glutamate concentration", "increased blood glutamate concentration" ], "HP:0500150": [ "hypoglutamatemia", "decrease blood glutamate concentration", "decreased blood glutamate concentrations", "low blood glutamate level", "low blood glutamate levels" ], "HP:0500151": [ "hypercystinemia", "high blood cystine level", "high blood cystine levels", "increase blood cystine concentraions", "increased blood cystine concentraions" ], "HP:0500152": [ "hypocystinemia", "decrease blood cystine concentration", "decreased blood cystine concentration", "low blood cystine level", "low blood cystine levels" ], "HP:0500153": [ "hyperargininemia", "high blood arginine level", "high blood arginine levels", "increase blood arginine concentration", "increased blood arginine concentration" ], "HP:0500154": [ "hypoalaninemia", "decrease blood alanine concentration", "decreased blood alanine concentration", "low blood alanine level", "low blood alanine levels" ], "HP:0500155": [ "abnormal circulate asparagine concentration", "abnormal circulating asparagine concentration", "abnormality of asparagine metabolism" ], "HP:0500156": [ "hyperasparaginemia", "high blood asaparagine level", "high blood asaparagine levels", "increase blood asparagine concentration", "increased blood asparagine concentration" ], "HP:0500157": [ "hypoasparaginemia", "decrease blood asparagine concentration", "decreased blood asparagine concentration", "low blood asparagine level", "low blood asparagine levels" ], "HP:0500158": [ "abnormal circulate aspartic acid concentration", "abnormal circulating aspartic acid concentration", "abnormal circulate aspartate concentration", "abnormal circulating aspartate concentration" ], "HP:0500159": [ "increase level of circulate aspartic acid", "increased level of circulating aspartic acid", "high blood aspartic acid level", "high blood aspartic acid levels", "increase blood aspartic acid", "increased blood aspartic acid" ], "HP:0500160": [ "abnormal circulate carnosine concentration", "abnormal circulating carnosine concentration", "abnormality of carnosine metabolism" ], "HP:0500161": [ "increase level of carnosine in blood", "increased level of carnosine in blood", "high blood carnosine level", "high blood carnosine levels", "increase blood carnosine concenrtation", "increased blood carnosine concenrtation" ], "HP:0500162": [ "decrease level of carnosine in blood", "decreased level of carnosine in blood", "decrease blood carnosine concentration", "decreased blood carnosine concentration", "low blood carnosine level", "low blood carnosine levels" ], "HP:0500163": [ "hypoornithinemia", "decrease blood ornithine concentration", "decreased blood ornithine concentrations", "low blood ornithine level", "low blood ornithine levels" ], "HP:0500164": [ "abnormal blood carbon dioxide level", "abnormal co2 level in blood", "abnormal co2 levels in blood" ], "HP:0500165": [ "abnormal blood oxygen level", "abnormal blood o2 level", "abnormal blood oxygen levels", "abnromal o2 blood concentration" ], "HP:0500166": [ "abnormal circulate gastrin concentration", "abnormal circulating gastrin concentration", "abnormal circulate gastrin level", "abnormal circulating gastrin level" ], "HP:0500167": [ "hypergastrinemia", "elevate gastrin in the blood", "elevated gastrin in the blood", "increase blood gastrin", "increased blood gastrin" ], "HP:0500170": [ "abnormal concentration of acylcarnitine in the urine" ], "HP:0500173": [ "reflex asystolic syncope", "reflex anoxic seizure", "reflex anoxic seizures" ], "HP:0500180": [ "abnormal circulate amino sulfonic acid concentration", "abnormal circulating amino sulfonic acid concentration" ], "HP:0500181": [ "hypertaurinemia", "elevate serum taurine level", "elevated serum taurine levels", "increase circulate taurine level in the blood", "increased circulating taurine levels in the blood" ], "HP:0500182": [ "hypotaurinemia", "decrease circulate taurine level", "decreased circulating taurine levels", "low blood level of taurine", "lower blood levels of taurine", "reduce taurine level in the blood", "reduced taurine levels in the blood" ], "HP:0500183": [ "abnormal csf carboxylic acid concentration" ], "HP:0500184": [ "obsolete abnormal csf amino acid level", "abnormal csf amino acid concentration", "abnormal amino acid level in cerebrospinal fluid", "abnormal amino acid levels in cerebrospinal fluid", "abnormal cerebrospinal fluid amino acid level", "abnormal csf amino acid level" ], "HP:0500185": [ "abnormal csf branch chain amino acid concentration", "abnormal csf branched chain amino acid concentration", "abnormal branch - chain amino acid level in cerbrospinal fluid", "abnormal branched - chain amino acid levels in cerbrospinal fluid" ], "HP:0500186": [ "abnormal csf valine concentration", "abnormal valine level in cerebrospinal fluid", "abnormal valine levels in cerebrospinal fluid" ], "HP:0500187": [ "increase csf valine concentration", "increased csf valine concentration", "high valine level in cerebrospinal fluid", "high valine levels in cerebrospinal fluid" ], "HP:0500188": [ "decrease csf valine concentration", "decreased csf valine concentration", "low valine level in cerebrospinal fluid", "low valine levels in cerebrospinal fluid" ], "HP:0500189": [ "abnormal csf leucine concentration", "abnormal leucine level in cerebrospinal fluid", "abnormal leucine levels in cerebrospinal fluid" ], "HP:0500190": [ "decrease csf leucine concentration", "decreased csf leucine concentration", "low leucine level in cerebrospinal fluid", "low leucine levels in cerebrospinal fluid" ], "HP:0500191": [ "increase csf leucine concentration", "increased csf leucine concentration", "high leucine level in cerebrospinal fluid", "high leucine levels in cerebrospinal fluid" ], "HP:0500192": [ "abnormal csf isoleucine concentration", "abnormal isoleucine level in cerebrospinal fluid", "abnormal isoleucine levels in cerebrospinal fluid" ], "HP:0500193": [ "increase csf isoleucine concentration", "increased csf isoleucine concentration", "high level of isoleucine in cerebrospinal fluid", "high levels of isoleucine in cerebrospinal fluid" ], "HP:0500194": [ "decrease csf isoleucine concentration", "decreased csf isoleucine concentration", "low level of isoleucine in cerebrospinal fluid", "low levels of isoleucine in cerebrospinal fluid" ], "HP:0500195": [ "abnormal csf glutamine family amino acid concentration", "abnormal glutamine family amino acid level in cerebrospinal fluid", "abnormal glutamine family amino acid levels in cerebrospinal fluid" ], "HP:0500196": [ "abnormal csf glutamine concentration", "abnormal glutamine level in cerebrospinal fluid", "abnormal glutamine levels in cerebrospinal fluid" ], "HP:0500197": [ "increase csf glutamine concentration", "increased csf glutamine concentration", "high glutamine level in cerebrospinal fluid", "high glutamine levels in cerebrospinal fluid" ], "HP:0500198": [ "decrease csf glutamine concentration", "decreased csf glutamine concentration", "low glutamine level in cerebrospinal fluid", "low glutamine levels in cerebrospinal fluid" ], "HP:0500199": [ "abnormal csf glutamate concentration", "abnormal glutamic acid level in cerebrospinal fluid", "abnormal glutamic acid levels in cerebrospinal fluid" ], "HP:0500200": [ "increase csf glutamate concentration", "increased csf glutamate concentration", "high glutamic acid level in cerebrospinal fluid", "high glutamic acid levels in cerebrospinal fluid" ], "HP:0500201": [ "decrease csf glutamate concentration", "decreased csf glutamate concentration", "low glutamic acid level in cerebrospinal fluid", "low glutamic acid levels in cerebrospinal fluid" ], "HP:0500202": [ "abnormal csf arginine concentration", "abnormal arginine level in cerebrospinal fluid", "abnormal arginine levels in cerebrospinal fluid" ], "HP:0500203": [ "increase csf arginine concentration", "increased csf arginine concentration", "high arginine level in cerebrospinal fluid", "high arginine levels in cerebrospinal fluid" ], "HP:0500204": [ "decrease csf arginine concentration", "decreased csf arginine concentration", "low arginine level in cerebrospinal fluid", "low arginine levels in cerebrospinal fluid" ], "HP:0500205": [ "abnormal csf aspartate family amino acid concentration", "abnormal aspartate - family amino acid level in cerebrospinal fluid", "abnormal aspartate - family amino acid levels in cerebrospinal fluid" ], "HP:0500206": [ "abnormal csf lysine concentration", "abnormal lysine level in cerebrospinal fluid", "abnormal lysine levels in cerebrospinal fluid" ], "HP:0500207": [ "decrease csf lysine concentration", "decreased csf lysine concentration", "low lysine level in cerebrospinal fluid", "low lysine levels in cerebrospinal fluid" ], "HP:0500208": [ "increase csf lysine concentration", "increased csf lysine concentration", "high lysine level in cerebrospinal fluid", "high lysine levels in cerebrospinal fluid" ], "HP:0500209": [ "abnormal csf methionine concentration", "abnormal methionine level in cerebrospinal fluid", "abnormal methionine levels in cerebrospinal fluid" ], "HP:0500210": [ "increase csf methionine concentration", "increased csf methionine concentration", "high methionine level in cerebrospinal fluid", "high methionine levels in cerebrospinal fluid" ], "HP:0500211": [ "abnormal csf threonine concentration", "abnormal threonine level in cerebrospinal fluid", "abnormal threonine levels in cerebrospinal fluid" ], "HP:0500212": [ "increase csf threonine concentration", "increased csf threonine concentration", "high threonine level in cerebrospinal fluid", "high threonine levels in cerebrospinal fluid" ], "HP:0500213": [ "decrease csf threonine concentration", "decreased csf threonine concentration", "low threonine level in the cerebrospinal fluid", "low threonine levels in the cerebrospinal fluid" ], "HP:0500214": [ "abnormal csf aromatic amino acid concentration", "abnormal aromatic amino acid level in cerebrospinal fluid", "abnormal aromatic amino acid levels in cerebrospinal fluid" ], "HP:0500215": [ "abnormal csf phenylalanine concentration", "abnormal phenylalanine level in cerebrospinal fluid", "abnormal phenylalanine levels in cerebrospinal fluid" ], "HP:0500216": [ "abnormal csf aspartate concentration", "abnormal aspartic acid level in cerebrospinal fluid", "abnormal aspartic acid levels in cerebrospinal fluid", "abnormal csf aspartic acid concentration" ], "HP:0500217": [ "increase csf aspartate concentration", "increased csf aspartate concentration", "high aspartic acid level in cerebrospinal fluid", "high aspartic acid levels in cerebrospinal fluid", "increase csf aspartic acid concentration", "increased csf aspartic acid concentration" ], "HP:0500218": [ "abnormal csf tryptophan concentration", "abnormal tryptophan level in cerebrospinal fluid", "abnormal tryptophan levels in cerebrospinal fluid" ], "HP:0500219": [ "abnormal csf tyrosine concentration", "abnormal tyrosine level in cerebrospinal fluid", "abnormal tyrosine levels in cerebrospinal fluid" ], "HP:0500220": [ "increase csf tyrosine concentration", "increased csf tyrosine concentration", "high tyrosine level in cerebrospinal fluid", "high tyrosine levels in cerebrospinal fluid" ], "HP:0500221": [ "decrease csf tyrosine concentration", "decreased csf tyrosine concentration", "low tyrosine level in the cerebrospinal fluid", "low tyrosine levels in the cerebrospinal fluid" ], "HP:0500222": [ "increase csf tryptophan concentration", "increased csf tryptophan concentration", "high tryptophan level in cerebrospinal fluid", "high tryptophan levels in cerebrospinal fluid" ], "HP:0500223": [ "increase csf phenylalanine concentration", "increased csf phenylalanine concentration", "high phenylalanine level in cerebrospinal fluid", "high phenylalanine levels in cerebrospinal fluid" ], "HP:0500224": [ "decrease csf phenylalanine concentration", "decreased csf phenylalanine concentration", "low phenylalanine level in cerebrospinal fluid", "low phenylalanine levels in cerebrospinal fluid" ], "HP:0500225": [ "abnormal csf serine family amino acid concentration", "abnormal serine - family amino acid level in cerebrospinal fluid", "abnormal serine - family amino acid levels in cerebrospinal fluid" ], "HP:0500226": [ "abnormal csf serine concentration", "abnormal serine level in cerebrospinal fluid", "abnormal serine levels in cerebrospinal fluid" ], "HP:0500227": [ "increase csf serine concentration", "increased csf serine concentration", "high serine level in cerebrospinal fluid", "high serine levels in cerebrospinal fluid" ], "HP:0500228": [ "decrease csf serine concentration", "decreased csf serine concentration", "low serine level in cerebrospinal fluid", "low serine levels in cerebrospinal fluid" ], "HP:0500229": [ "abnormal csf glycine concentration", "abnormal glycine level in cerebrospinal fluid", "abnormal glycine levels in cerebrospinal fluid" ], "HP:0500230": [ "increase csf glycine concentration", "increased csf glycine concentration", "high glycine level in cerebrospinal fluid", "high glycine levels in cerebrospinal fluid" ], "HP:0500231": [ "abnormal csf pyruvate family amino acid concentration", "abnormal pyruvate - family amino acid level in cerebrospinal fluid", "abnormal pyruvate - family amino acid levels in cerebrospinal fluid" ], "HP:0500232": [ "abnormal csf alanine concentration", "abnormal alanine level in cerebrospinal fluid", "abnormal alanine levels in cerebrospinal fluid" ], "HP:0500233": [ "increase csf alanine concentration", "increased csf alanine concentration", "high alanine level in cerebrospinal fluid", "high alanine levels in cerebrospinal fluid" ], "HP:0500234": [ "decrease csf alanine concentration", "decreased csf alanine concentration", "low alanine level in cerebrospinal fluid", "low alanine levels in cerebrospinal fluid" ], "HP:0500235": [ "abnormal csf histidine concentration", "abnormal histidine level in cerebrospinal fluid", "abnormal histidine levels in cerebrospinal fluid" ], "HP:0500236": [ "increase csf histidine concentration", "increased csf histidine concentration", "high histidine level in cerebrospinal fluid", "high histidine levels in cerebrospinal fluid" ], "HP:0500237": [ "decrease csf histidine concentration", "decreased csf histidine concentration", "low histidine level in cerebrospinal fluid", "low histidine levels in cerebrospinal fluid" ], "HP:0500238": [ "abnormal csf albumin concentration", "abnormal albumin level in cerebrospinal fluid", "abnormal albumin levels in cerebrospinal fluid" ], "HP:0500239": [ "increase csf albumin concentration", "increased csf albumin concentration", "high albumin level in cerebrospinal fluid", "high albumin levels in cerebrospinal fluid" ], "HP:0500240": [ "abnormal csf carnosine concentration", "abnormal carnosine level in cerebrospinal fluid", "abnormal carnosine levels in cerebrospinal fluid" ], "HP:0500241": [ "abnormal csf homocarnosine concentration", "abnormal homocarnosine level in cerebrospinal fluid", "abnormal homocarnosine levels in cerebrospinal fluid" ], "HP:0500242": [ "increase csf homocarnosine concentration", "increased csf homocarnosine concentration", "high homocarnosine level in cerebrospinal fluid", "high homocarnosine levels in cerebrospinal fluid" ], "HP:0500243": [ "abnormal csf ornithine concentration", "abnormal ornithine level in cerebrospinal fluid", "abnormal ornithine levels in cerebrospinal fluid" ], "HP:0500244": [ "increase csf ornithine concentration", "increased csf ornithine concentration", "high ornithine level in cerebrospinal fluid", "high ornithine levels in cerebrospinal fluid" ], "HP:0500245": [ "abnormal csf citrulline concentration", "abnormal citrulline level in cerebrospinal fluid", "abnormal citrulline levels in cerebrospinal fluid" ], "HP:0500246": [ "increase csf citrulline concentration", "increased csf citrulline concentration", "high citrulline level in cerebrospinal fluid", "high citrulline levels in cerebrospinal fluid" ], "HP:0500247": [ "abnormal csf alpha - aminobutyrate concentration", "abnormal alpha - aminobutyrate level in cerebrospinal fluid", "abnormal alpha - aminobutyrate levels in cerebrospinal fluid" ], "HP:0500248": [ "increase csf alpha - aminobutyrate concentration", "increased csf alpha - aminobutyrate concentration", "high alpha - aminobutyrate level in cerebrospinal fluid", "high alpha - aminobutyrate levels in cerebrospinal fluid" ], "HP:0500249": [ "abnormal circulate ethanolamine concentration", "abnormal circulating ethanolamine concentration", "abnormal ethanolamine level in the blood", "abnormal ethanolamine levels in the blood" ], "HP:0500250": [ "increase circulate ethanolamine concentration", "increased circulating ethanolamine concentration", "high ethanolamine level in the blood", "high ethanolamine levels in the blood" ], "HP:0500251": [ "abnormal urine sebacic acid concentration", "abnormal urine decanedioic acid concentration" ], "HP:0500252": [ "increase urine sebacic acid concentration", "increased urine sebacic acid concentration", "increase urine decanedioic acid concentration", "increased urine decanedioic acid concentration" ], "HP:0500253": [ "increase level of gamma - aminobutyric acid in urine", "increased level of gamma - aminobutyric acid in urine", "increase urinary excretion of gamma - aminobutyric acid ( gaba )", "increased urinary excretion of gamma - aminobutyric acid ( gaba )" ], "HP:0500254": [ "abnormal urine hexanoylglycine concentration", "abnormal urinary n - hexanoylglycine level", "abnormal urinary n - hexanoylglycine levels" ], "HP:0500255": [ "increase level of hexanoylglycine in urine", "increased level of hexanoylglycine in urine", "elevate urinary n - hexanoylglycine concentration", "elevated urinary n - hexanoylglycine concentration" ], "HP:0500256": [ "abnormal urine isobutyrylglycine concentration", "abnormal urinary isobutyrylglycine level", "abnormal urinary isobutyrylglycine levels" ], "HP:0500257": [ "increase urine isobutyrylglycine concentration", "increased urine isobutyrylglycine concentration", "high urinary isobutyrylglycine level", "high urinary isobutyrylglycine levels" ], "HP:0500258": [ "abnormal carbon dioxide level in cord blood", "abnormal co2 level in cord blood", "abnormal umbilical cord blood level of carbon dioxide", "abnormal umbilical cord blood levels of carbon dioxide" ], "HP:0500259": [ "abnormal oxygen level in cord blood", "abnormal cord blood oxygen level", "abnormal cord blood oxygen levels", "abnormal o2 level in cord blood", "abnormal oxygen amount in umbilical cord blood" ], "HP:0500260": [ "trigger by head trauma", "triggered by head trauma", "head trauma trigger symptom", "head trauma triggered symptoms" ], "HP:0500261": [ "trigger by anesthetic", "triggered by anesthetics", "anaesthetic trigger episode", "anaesthetics trigger episodes", "anaesthetic trigger symptom", "anaesthetics triggered symptoms", "anesthetic trigger episode", "anesthetics trigger episodes", "anesthetic trigger symptom", "anesthetics triggered symptoms", "trigger by anaesthetic", "triggered by anaesthetics" ], "HP:0500262": [ "atrichia" ], "HP:0500263": [ "abnormal helper t cell proportion", "abnormal proportion of circulate t - helper cell", "abnormal proportion of circulating t - helper cells" ], "HP:0500264": [ "increase helper t cell proportion", "increased helper t cell proportion", "elevate helper t cell proportion", "elevated helper t cell proportion", "increase proportion t - helper cell", "increased proportion t - helper cells" ], "HP:0500265": [ "increase proportion of cd8 - positive , alpha - beta temra t cell", "increased proportion of cd8 - positive , alpha - beta temra t cells", "increase proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate", "increased proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated" ], "HP:0500266": [ "decreased proportion of cd8 - positive , alpha - beta temra t cell", "decreased proportion of cd8 - positive , alpha - beta temra t cells", "decrease proportion effector memory cd8 - positive , alpha - beta t cell , terminally differentiate", "decreased proportion effector memory cd8 - positive , alpha - beta t cells , terminally differentiated" ], "HP:0500267": [ "abnormal proportion of cd4 - positive helper t cell", "abnormal proportion of cd4 - positive helper t cells" ], "HP:0500269": [ "abnormal proportion of gamma - delta t cell", "abnormal proportion of gamma - delta t cells", "abnormal proportion of gamma - delta t - lymphocyte", "abnormal proportion of gamma - delta t - lymphocytes", "abnormal proportion of gammadelta t cell", "abnormal proportion of gammadelta t cells", "abnormal proprotion of gamma - delta t lymphocyte", "abnormal proprotion of gamma - delta t lymphocytes" ], "HP:0500270": [ "increase proportion of gamma - delta t cell", "increased proportion of gamma - delta t cells", "elevate proportion of gamma - delta t cell", "elevated proportion of gamma - delta t cells", "increase proportion of gamma - delta t lymphocyte", "increased proportion of gamma - delta t lymphocytes", "increase proportion of gamma - delta t - cell", "increased proportion of gamma - delta t - cells", "increase proportion of gamma - delta t - lymphocyte", "increased proportion of gamma - delta t - lymphocytes", "increase proportion of gammadelta t cell", "increased proportion of gammadelta t cells" ], "HP:0500271": [ "decreased proportion of gamma - delta t cell", "decreased proportion of gamma - delta t cells", "decreased proportion of gamma - delta t lymphocyte", "decreased proportion of gamma - delta t lymphocytes", "decreased proportion of gamma - delta t - cell", "decreased proportion of gamma - delta t - cells", "decreased proportion of gamma - delta t - lymphocyte", "decreased proportion of gamma - delta t - lymphocytes", "decreased proportion of gammadelta t cell", "decreased proportion of gammadelta t cells", "reduce proportion of gamma - delta t cell", "reduced proportion of gamma - delta t cells" ], "HP:0500272": [ "abnormal proportion of immature gamma - delta t cell", "abnormal proportion of immature gamma - delta t cells", "abnormal proportion of immature gamma - delta t lymphocyte", "abnormal proportion of immature gamma - delta t lymphocytes", "abnormal proportion of immature gamma - delta t - cell", "abnormal proportion of immature gamma - delta t - cells", "abnormal proportion of immature gamma - delta t - lymphocyte", "abnormal proportion of immature gamma - delta t - lymphocytes" ], "HP:0500273": [ "increase proportion of immature gamma - delta t cell", "increased proportion of immature gamma - delta t cells", "elevate proportion of immature gamma - delta t cell", "elevated proportion of immature gamma - delta t cells", "increase proportion of immature gamma - delat t lymphocyte", "increased proportion of immature gamma - delat t lymphocytes", "increase proportion of immature gamma - delta t - cell", "increased proportion of immature gamma - delta t - cells", "increase proportion of immature gamma - delta t - lymphocyte", "increased proportion of immature gamma - delta t - lymphocytes" ], "HP:0500274": [ "decreased proportion of immature gamma - delta t cell", "decreased proportion of immature gamma - delta t cells", "decreased proportion of immature gamma - delta t lymphocyte", "decreased proportion of immature gamma - delta t lymphocytes", "decreased proportion of immature gamma - delta t - cell", "decreased proportion of immature gamma - delta t - cells", "decreased proportion of immature gamma - delta t - lymphocyte", "decreased proportion of immature gamma - delta t - lymphocytes", "reduce proportion of immature gamma - delta t cell", "reduced proportion of immature gamma - delta t cells" ], "HP:0550003": [ "proximal scleroderma" ], "HP:0550004": [ "verruca plana", "flat wart" ], "HP:0550005": [ "bilateral basilar pulmonary fibrosis", "lung disease with systemic sclerosis", "scleroderma lung disease", "scleroderma of lung" ], "HP:3000002": [ "abnormal inner ear epithelium morphology" ], "HP:3000003": [ "abnormal mandibular ramus morphology", "abnormality of mandibular ramus" ], "HP:3000004": [ "abnormality of frontalis muscle belly" ], "HP:3000005": [ "abnormality of masseter muscle" ], "HP:3000006": [ "abnormality of medial pterygoid muscle" ], "HP:3000007": [ "abnormality of mentalis muscle" ], "HP:3000008": [ "abnormality of mylohyoid muscle" ], "HP:3000009": [ "abnormality of nasalis muscle" ], "HP:3000010": [ "abnormality of orbicularis oris muscle" ], "HP:3000011": [ "abnormality of palatoglossus muscle" ], "HP:3000012": [ "abnormality of palatopharyngeus muscle" ], "HP:3000013": [ "abnormality of platysma", "abnormality of the platysma muscle" ], "HP:3000014": [ "abnormality of procerus muscle" ], "HP:3000015": [ "abnormality of risorius muscle" ], "HP:3000016": [ "abnormality of styloglossus muscle" ], "HP:3000017": [ "abnormality of temporalis muscle" ], "HP:3000018": [ "abnormality of zygomaticus major muscle" ], "HP:3000019": [ "abnormality of buccal mucosa", "abnormality of cheek mucosa", "abnormality of inside lining of cheek" ], "HP:3000020": [ "abnormality of zygomaticus minor muscle" ], "HP:3000021": [ "abnormality of buccal fat pad" ], "HP:3000022": [ "abnormality of cartilage of external ear" ], "HP:3000023": [ "abnormality of angular artery" ], "HP:3000024": [ "abnormal facial artery morphology", "abnormality of facial artery" ], "HP:3000025": [ "abnormality of ciliary ganglion" ], "HP:3000026": [ "obsolete abnormality of common carotid artery plus branch", "obsolete abnormality of common carotid artery plus branches" ], "HP:3000027": [ "abnormality of buccinator muscle" ], "HP:3000028": [ "abnormality of depressor anguli oris muscle" ], "HP:3000029": [ "abnormality of depressor labii inferioris", "abnormality of depressor labii inferioris muscle" ], "HP:3000030": [ "abnormality of bony orbit of skull", "abnormality of bone of the orbit of the skull", "abnormality of bones of the orbit of the skull", "abnormality of the bony eye socket", "abnormality of the orbital bone of skull", "abnormality of the orbital bones of skull" ], "HP:3000031": [ "abnormality of anterior ethmoidal artery" ], "HP:3000032": [ "abnormality of central retinal artery" ], "HP:3000033": [ "abnormal nasopharyngeal adenoid morphology", "abnormality of adenoid", "abnormality of adenoids", "abnormality of nasopharyngeal adenoid", "abnormality of nasopharyngeal adenoids", "abnormality of nasopharyngeal tonsil", "abnormality of pharyngeal tonsil" ], "HP:3000034": [ "abnormality nasal septum cartilage morphology", "abnormality of cartilage of nasal septum", "abnormality of cartilage of septum of nose", "anomaly of cartilage of nasal septum", "deformity of cartilage of nasal septum", "malformation of cartilage of nasal septum" ], "HP:3000035": [ "abnormality of cervical plexus" ], "HP:3000036": [ "abnormality of head blood vessel", "abnormality of blood vessel of head", "abnormality of vasculature of head" ], "HP:3000037": [ "abnormality of neck blood vessel", "abnormality of blood vessel of neck", "abnormality of the cervical blood vessel", "abnormality of the cervical blood vessels", "abnormality of the cervical vasculature", "abnormality of the vasculature of the neck" ], "HP:3000038": [ "abnormal cricoid cartilage morphology", "abnormality of cricoid cartilage" ], "HP:3000039": [ "abnormality of dorsal nasal artery" ], "HP:3000040": [ "abnormality of ethmoid sinus", "abnormality of ethmoidal air cell", "abnormality of ethmoidal air cells" ], "HP:3000041": [ "abnormality of external carotid artery", "abnormality of carotid artery", "disorder of carotid artery" ], "HP:3000042": [ "abnormal jugular vein morphology", "abnormality of jugular vein" ], "HP:3000043": [ "abnormal facial vein morphology", "abnormal vein of face", "abnormality of facial vein" ], "HP:3000044": [ "abnormality of frontal process of maxilla" ], "HP:3000045": [ "abnormality of genioglossus muscle" ], "HP:3000046": [ "abnormality of geniohyoid muscle" ], "HP:3000047": [ "abnormal glossopharyngeal nerve morphology", "abnormality of glossopharyngeal nerve" ], "HP:3000048": [ "abnormal great auricular nerve morphology" ], "HP:3000049": [ "abnormal great palatine artery morphology", "abnormal greater palatine artery morphology", "abnormality of great palatine artery", "abnormality of greater palatine artery" ], "HP:3000050": [ "abnormal odontoid tissue morphology", "abnormality of hard tissue of teeth", "abnormality of hard tissues of teeth", "abnormality of odontoid tissue", "abnormality of tooth hard tissue" ], "HP:3000051": [ "abnormal hyoglossus muscle morphology", "abnormality of hyoglossus muscle" ], "HP:3000052": [ "abnormality of hyoid bone" ], "HP:3000053": [ "abnormal hypopharynx morphology", "abnormality of hypopharynx", "abnormality of low pharynx", "abnormality of lower pharynx" ], "HP:3000054": [ "abnormality of inferior alveolar artery" ], "HP:3000055": [ "abnormality of inferior alveolar nerve" ], "HP:3000056": [ "abnormality of artery of low lip", "abnormality of artery of lower lip", "abnormality of the inferior labial artery" ], "HP:3000057": [ "abnormality of inferior oblique extraocular muscle", "abnormality of the inferior oblique muscle" ], "HP:3000058": [ "abnormality of inferior rectus extraocular muscle" ], "HP:3000059": [ "abnormal inferior thyroid vein morphology", "abnormality of inferior thyroid vein" ], "HP:3000060": [ "abnormality of infraorbital artery" ], "HP:3000061": [ "abnormality of infra - orbital nerve", "abnormality of the infraorbital nerve" ], "HP:3000062": [ "abnormal internal carotid artery morphology", "abnormality of internal carotid artery" ], "HP:3000063": [ "abnormality of internal jugular vein" ], "HP:3000064": [ "abnormality of intrinsic muscle of tongue", "abnormality of intrinsic lingual muscle" ], "HP:3000065": [ "abnormal lacrimal artery morphology", "abnormality of lacrimal artery" ], "HP:3000066": [ "abnormal lacrimal sac morphology", "abnormality of lacrimal sac" ], "HP:3000067": [ "abnormal lateral cricoarytenoid muscle morphology", "abnormal anterior cricoarytenoid muscle morphology", "abnormality of lateral crico - arytenoid", "abnormality of lateral cricoarytenoid muscle" ], "HP:3000068": [ "abnormality of lateral pterygoid muscle" ], "HP:3000069": [ "abnormality of lateral rectus extra - ocular muscle" ], "HP:3000070": [ "abnormality of levator anguli oris" ], "HP:3000071": [ "abnormality of levator labii superioris" ], "HP:3000072": [ "abnormal levator palpebrae superioris morphology" ], "HP:3000073": [ "abnormality of levator veli palatini muscle" ], "HP:3000074": [ "abnormal lingual artery morphology", "abnormality of lingual artery" ], "HP:3000075": [ "abnormal lingual nerve morphology", "abnormality of lingual nerve" ], "HP:3000076": [ "abnormality of lingual tonsil" ], "HP:3000077": [ "abnormal mandible condylar process morphology", "abnormality of mandible condylar process" ], "HP:3000078": [ "abnormal mandible coronoid process morphology", "abnormality of mandible coronoid process" ], "HP:3000079": [ "abnormal mandibular symphysis morphology", "abnormality of mandible symphysis" ], "HP:4000001": [ "abnormal cardiac magnetic resonance imaging find", "abnormal cardiac magnetic resonance imaging finding" ], "HP:4000003": [ "elevate myocardial native t2", "elevated myocardial native t2" ], "HP:4000004": [ "myocardial late gadolinium enhancement", "delay myocardial gadolinium enhancement", "delayed myocardial gadolinium enhancement" ], "HP:4000005": [ "pericardial late gadolinium enhancement" ], "HP:4000006": [ "elevate myocardial native t1", "elevated myocardial native t1", "prolong myocardial native t1", "prolonged myocardial native t1" ], "HP:4000007": [ "bronchoconstriction", "bronchial constriction", "constriction of the bronchus", "constriction of the bronchi" ], "HP:4000008": [ "formation of multiple pronucleus during fertilization", "formation of multiple pronuclei during fertilization" ], "HP:4000009": [ "kinesiophobia" ], "HP:4000010": [ "impaired renal tubular reabsorption of bicarbonate" ], "HP:4000011": [ "history of congenital hpv infection" ], "HP:4000012": [ "necrotizing ileitis" ], "HP:4000013": [ "anti - desmoglein - 1 antibody positivity" ], "HP:4000014": [ "anti - desmoglein - 3 antibody positivity" ], "HP:4000015": [ "anti - envoplakin antibody positivity" ], "HP:4000016": [ "anti - periplakin antibody positivity" ], "HP:4000017": [ "anti - desmoplakin i antibody positivity" ], "HP:4000018": [ "anti - desmoplakin ii antibody positivity" ], "HP:4000019": [ "anti - bp230 antibody positivity" ], "HP:4000020": [ "anti - bp180 antibody positivity" ], "HP:4000021": [ "anti - laminin 332 antibody positivity", "anti - laminin 5 antibody positivity" ], "HP:4000022": [ "anti - laminin 6 antibody positivity" ], "HP:4000023": [ "anti - laminin gamma1 antibody positivity" ], "HP:4000024": [ "anti - laminin antibody positivity" ], "HP:4000025": [ "anti - integrin antibody positivity" ], "HP:4000026": [ "anti - transglutaminase 6 antibody" ], "HP:4000027": [ "anti - lad - 1 antibody positivity" ], "HP:4000028": [ "anti - labd97 antibody positivity" ], "HP:4000029": [ "antigliadin antibody positivity", "aga autoantibody", "aga autoantibodies" ], "HP:4000030": [ "anti - reticulin antibody positivity" ], "HP:4000031": [ "anti - type vii collagen antibody" ], "HP:4000032": [ "false perception of self - motion" ], "HP:4000033": [ "non - spinning vertigo" ], "HP:4000034": [ "infection - ssociated lymphopenia", "infection - ssociated lymphocytopenia" ], "HP:4000035": [ "primary obstructive megaureter" ], "HP:4000036": [ "encysted hydrocele of the cord" ], "HP:4000037": [ "congenital hydrocele" ], "HP:4000038": [ "infantile hydrocele" ], "HP:4000039": [ "reduce proportion of mucosal - associate invariant t cell", "reduced proportion of mucosal - associated invariant t cells" ], "HP:4000040": [ "puerpural onset" ], "HP:4000041": [ "aa amyloidosis" ], "HP:4000042": [ "fracture type" ], "HP:4000043": [ "greenstick fracture", "incomplete fracture" ], "HP:4000044": [ "transverse fracture" ], "HP:4000045": [ "spiral fracture" ], "HP:4000046": [ "oblique fracture" ], "HP:4000047": [ "compression fracture", "wedge fracture" ], "HP:4000048": [ "comminute fracture", "comminuted fracture" ], "HP:4000049": [ "segmental fracture" ], "HP:4000050": [ "open fracture", "compound fracture" ], "HP:4000051": [ "closed fracture" ], "HP:4000052": [ "avulsion fracture" ], "HP:4000053": [ "displaced fracture" ], "HP:4000054": [ "exanthem" ], "HP:4000055": [ "intestinal inflammation" ], "HP:4000056": [ "abnormal apoptosis" ], "HP:4000057": [ "decrease fasl - mediate apoptosis", "decreased fasl - mediated apoptosis" ], "HP:4000058": [ "glomerular proteinuria" ], "HP:4000059": [ "abnormal lung development", "developmental pulmonary anomaly" ], "HP:4000060": [ "abnormal pulmonary alveolar system development" ], "HP:4000061": [ "pancreatic alpha - cell hyperplasia" ], "HP:4000062": [ "3 - 4 metacarpal synostosis", "fused third and fourth metacarpal", "fused third and fourth metacarpals", "middle and ring finger metacarpal synostosis", "synostosis of third and the fourth metacarpal bone", "synostosis of third and the fourth metacarpal bones" ], "HP:5000000": [ "anti - ak5 antibody positivity" ], "HP:5000001": [ "anti - ampar antibody positivity", "anti - alpha - amino - 3 - hydroxy - 5 - methyl - 4 - isoxazolepropionic acid receptor antibody" ], "HP:5000002": [ "anti - amphiphysin antibody" ], "HP:5000003": [ "anti - arhgap26 antibody", "anti - ca antibody", "anti - rhogtpase - activate protein 26 antibody", "anti - rhogtpase - activating protein 26 antibody" ], "HP:5000004": [ "anti - carp viii antibody", "anti carpviii antibody", "anti - carbonic anhydrase - related protein viii antibody" ], "HP:5000005": [ "anti - caspr2", "anti - caspr2 antibody", "anti - contactin - associate protein - like 2 antibody", "anti - contactin - associated protein - like 2 antibody" ], "HP:5000006": [ "anti - cv2 / crmp5 antibody", "anti - cv2 antibody", "anti - cv2 / collapsin response mediator protein ( crmp ) 5 antibody" ], "HP:5000007": [ "anti - dppx antibody", "anti - dipeptidyl - peptidase - like protein 6 antibody" ], "HP:5000008": [ "anti - fgfr3 antibody", "anti - fibroblast growth factor receptor 3 antibody" ], "HP:5000009": [ "anti - gaba ( a ) r antibody", "anti - gabaa r antibody", "anti - gamma amino butyric acid type a receptor antibody", "anti - gamma amino butyric acid type a receptors antibody" ], "HP:5000010": [ "anti - gaba ( b ) r antibody", "anti - gamma - aminobutyric acid b receptor antibody" ], "HP:5000011": [ "anti - gad65 antibody", "anti - glutamic acid decarboxylase 65 antibody" ], "HP:5000012": [ "anti - gephyrin antibody" ], "HP:5000013": [ "anti - gfap antibody", "anti - glial fibrillary acidic protein antibody" ], "HP:5000014": [ "anti - glyr antibody", "anti - glycine receptor antibody" ], "HP:5000015": [ "anti - homer - 3 antibody", "anti - homer protein homolog 3 antibody" ], "HP:5000016": [ "anti - hu antibody", "anti - anna - 1 antibody", "anti - neuronal nuclear antibody type - 1 antibody" ], "HP:5000017": [ "anti - iglon5 antibody", "anti - immunoglobulin - like cell adhesion molecule 5 antibody" ], "HP:5000018": [ "anti - itpr1 antibody", "anti - inositol 1,4,5 - trisphosphate receptor type 1 antibody" ], "HP:5000019": [ "anti - klhl11 antibody", "anti - kelch - like protein 11 antibody" ], "HP:5000020": [ "anti - lgi1 antibody", "anti - anti - leucine - rich glioma - inactivated 1 antibody" ], "HP:5000021": [ "anti - ma antibody" ], "HP:5000022": [ "anti - ma2 antibody", "anti - ta antibody" ], "HP:5000023": [ "anti - ma1 antibody" ], "HP:5000024": [ "anti - mglur1 antibody", "anti - metabotropic glutamate receptor 1 antibody" ], "HP:5000025": [ "anti - mglur5 antibody", "anti - metabotropic glutamate receptor type 5 antibody" ], "HP:5000026": [ "anti - neurexin - 3alpha antibody" ], "HP:5000027": [ "anti - p / q - type vgcc antibody", "anti - p / q - type voltage - gated calcium - channel antibody" ], "HP:5000028": [ "anti - map1b antibody", "anti - microtubule - associate protein 1b antibody", "anti - microtubule - associated protein 1b antibody", "anti - purkinje cell cytoplasmic type - 2 antibody" ], "HP:5000029": [ "anti - pkcgamma antibody", "anti - protein kinase c gamma antibody" ], "HP:5000030": [ "anti - ri antibody", "anti - anna - 2 antibody" ], "HP:5000031": [ "anti - septin - 5 antibody" ], "HP:5000032": [ "anti - sez6l2 antibody" ], "HP:5000033": [ "anti - sox1 antibody", "anti - sry - like high mobility group box ( sox ) 1 antibody" ], "HP:5000034": [ "anti - tr / dner antibody", "anti - delta / notch - like epidermal growth factor - related receptor antibody", "pca - tr" ], "HP:5000035": [ "anti - trim46 antibody" ], "HP:5000036": [ "anti - trim9 / trim67 antibody" ], "HP:5000037": [ "anti - yo antibody", "anti - purkinje cell cytoplasmic antibody 1" ], "HP:5000038": [ "anti - titin antibody" ], "HP:5000039": [ "anti - zic4 antibody" ], "HP:5000041": [ "anti - crmp5 antibody", "anti - collapsin response - mediate protein 5 antibody", "anti - collapsin response - mediated protein 5 antibody" ], "HP:5000042": [ "anti - sj / itpr1 antibody", "anti - sj / inositol 1,4,5 - trisphosphate receptor antibody" ], "HP:5000043": [ "anti - d2 r antibody", "anti - dopamine - 2 receptor ( d2r ) antibody", "anti - dopamine - 2 receptors ( d2r ) antibody" ], "HP:5000044": [ "anti - gluk2 antibody", "anti - glutamate kainate receptor subunit 2 antibody" ], "HP:5000045": [ "anti - musk antibody", "anti - anti - muscle - specific tyrosine kinase antibody" ], "HP:5000046": [ "anti - lrp4 antibody", "anti - low - density lipoprotein receptor - related protein 4 antibody" ], "HP:5000047": [ "anti - ryanodine receptor antibody", "anti - ryr antibody" ], "HP:5000048": [ "anti - kv1.4 antibody" ] }