diff --git "a/definition2id.json" "b/definition2id.json" new file mode 100644--- /dev/null +++ "b/definition2id.json" @@ -0,0 +1,42075 @@ +{ + "All": "HP:0000001", + "Abnormality of body height": "HP:0000002", + "Multicystic kidney dysplasia": "HP:0000003", + "Multicystic dysplastic kidney": "HP:0000003", + "Multicystic kidneys": "HP:0000003", + "Multicystic renal dysplasia": "HP:0000003", + "Mode of inheritance": "HP:0000005", + "Inheritance": "HP:0000005", + "Autosomal dominant inheritance": "HP:0000006", + "Autosomal dominant": "HP:0000006", + "monoallelic_autosomal": "HP:0000006", + "Autosomal dominant form": "HP:0000006", + "Autosomal dominant type": "HP:0000006", + "Autosomal recessive inheritance": "HP:0000007", + "Autosomal recessive": "HP:0000007", + "biallelic_autosomal": "HP:0000007", + "Autosomal recessive form": "HP:0000007", + "Autosomal recessive predisposition": "HP:0000007", + "Abnormal morphology of female internal genitalia": "HP:0000008", + "Abnormality of female internal genitalia": "HP:0000008", + "Functional abnormality of the bladder": "HP:0000009", + "Poor bladder function": "HP:0000009", + "Recurrent urinary tract infections": "HP:0000010", + "Frequent urinary tract infections": "HP:0000010", + "Recurrent UTIs": "HP:0000010", + "Repeated bladder infections": "HP:0000010", + "Repeated urinary tract infections": "HP:0000010", + "Urinary tract infections": "HP:0000010", + "Urinary tract infections, recurrent": "HP:0000010", + "Neurogenic bladder": "HP:0000011", + "Lack of bladder control due to nervous system injury": "HP:0000011", + "Urinary urgency": "HP:0000012", + "Overactive bladder": "HP:0000012", + "Urgent micturition": "HP:0000012", + "Overactive bladder syndrome": "HP:0000012", + "Urgency frequency syndrome": "HP:0000012", + "Hypoplasia of the uterus": "HP:0000013", + "Hypoplastic uterus": "HP:0000013", + "Rudimentary uterus": "HP:0000013", + "Small uterus": "HP:0000013", + "Underdeveloped uterus": "HP:0000013", + "Abnormality of the bladder": "HP:0000014", + "Bladder diverticulum": "HP:0000015", + "Bladder diverticula": "HP:0000015", + "Urinary retention": "HP:0000016", + "Increased post-void residual urine volume": "HP:0000016", + "Nocturia": "HP:0000017", + "Nycturia": "HP:0000017", + "Urinary hesitancy": "HP:0000019", + "Difficulty with flow": "HP:0000019", + "Urinary incontinence": "HP:0000020", + "Bladder incontinence": "HP:0000020", + "Loss of bladder control": "HP:0000020", + "Megacystis": "HP:0000021", + "Abnormal male internal genitalia morphology": "HP:0000022", + "Inguinal hernia": "HP:0000023", + "Prostatitis": "HP:0000024", + "Inflammation of the prostate": "HP:0000024", + "Functional abnormality of male internal genitalia": "HP:0000025", + "Male hypogonadism": "HP:0000026", + "Decreased function of male gonad": "HP:0000026", + "Azoospermia": "HP:0000027", + "Absent sperm in semen": "HP:0000027", + "Cryptorchidism": "HP:0000028", + "Cryptorchism": "HP:0000028", + "Undescended testes": "HP:0000028", + "Undescended testis": "HP:0000028", + "Testicular atrophy": "HP:0000029", + "Testicular degeneration": "HP:0000029", + "Testicular gonadoblastoma": "HP:0000030", + "Gonadoblastoma, male": "HP:0000030", + "Epididymitis": "HP:0000031", + "Abnormal male external genitalia morphology": "HP:0000032", + "Abnormality of male external genitalia": "HP:0000032", + "Ambiguous genitalia, male": "HP:0000033", + "Ambiguous genitalia in males": "HP:0000033", + "Hydrocele testis": "HP:0000034", + "Hydrocele": "HP:0000034", + "Testicular hydrocele": "HP:0000034", + "Abnormal testis morphology": "HP:0000035", + "Abnormality of the testis": "HP:0000035", + "Anomaly of the testes": "HP:0000035", + "Abnormal penis morphology": "HP:0000036", + "Abnormality of the penis": "HP:0000036", + "Male pseudohermaphroditism": "HP:0000037", + "Epispadias": "HP:0000039", + "Long penis": "HP:0000040", + "Enlarged penis": "HP:0000040", + "Chordee": "HP:0000041", + "Absent external genitalia": "HP:0000042", + "Hypogonadotropic hypogonadism": "HP:0000044", + "Hypogonadotrophic hypogonadism": "HP:0000044", + "Low gonadotropins (secondary hypogonadism)": "HP:0000044", + "Isolated hypogonadotropic hypogonadism": "HP:0000044", + "Abnormal scrotum morphology": "HP:0000045", + "Abnormality of the scrotum": "HP:0000045", + "Small scrotum": "HP:0000046", + "Hypoplastic scrotum": "HP:0000046", + "Scrotal hypoplasia": "HP:0000046", + "Smaller than typical growth of scrotum": "HP:0000046", + "Underdeveloped scrotum": "HP:0000046", + "Hypospadias": "HP:0000047", + "Hypospadia": "HP:0000047", + "Bifid scrotum": "HP:0000048", + "Cleft of scrotum": "HP:0000048", + "Scrotal cleft": "HP:0000048", + "Shawl scrotum": "HP:0000049", + "Overriding scrotum": "HP:0000049", + "Scrotum surrounds penis": "HP:0000049", + "Hypoplastic male external genitalia": "HP:0000050", + "Hypoplastic male genitalia": "HP:0000050", + "Small male external genitalia": "HP:0000050", + "Underdeveloped male genitalia": "HP:0000050", + "Perineal hypospadias": "HP:0000051", + "Urethral atresia, male": "HP:0000052", + "Macroorchidism": "HP:0000053", + "Large testicles": "HP:0000053", + "Large testis": "HP:0000053", + "Micropenis": "HP:0000054", + "Short penis": "HP:0000054", + "Small penis": "HP:0000054", + "Abnormal female external genitalia morphology": "HP:0000055", + "Abnormal female external genitalia": "HP:0000055", + "Abnormality of female external genitalia": "HP:0000055", + "Abnormal clitoris morphology": "HP:0000056", + "Abnormality of the clit": "HP:0000056", + "Abnormality of the clitoris": "HP:0000056", + "obsolete Clitoromegaly": "HP:0000057", + "Abnormal labia morphology": "HP:0000058", + "Abnormality of the labia": "HP:0000058", + "Hypoplastic labia majora": "HP:0000059", + "Hypoplasia of labia majora": "HP:0000059", + "Small labia majora": "HP:0000059", + "Underdeveloped vaginal lips": "HP:0000059", + "Clitoral hypoplasia": "HP:0000060", + "Hypoplastic clitoris": "HP:0000060", + "Small clitoris": "HP:0000060", + "Underdeveloped clit": "HP:0000060", + "Ambiguous genitalia, female": "HP:0000061", + "Atypical appearance of female genitals": "HP:0000061", + "Ambiguous genitalia due to virilization": "HP:0000061", + "Ambiguous genitalia": "HP:0000062", + "Ambiguous external genitalia": "HP:0000062", + "Ambiguous external genitalia at birth": "HP:0000062", + "Intersex genitalia": "HP:0000062", + "Fused labia minora": "HP:0000063", + "Fused inner lips": "HP:0000063", + "Hypoplastic labia minora": "HP:0000064", + "Underdeveloped inner lips": "HP:0000064", + "Labial hypertrophy": "HP:0000065", + "Enlarged vaginal lips": "HP:0000065", + "Enlargement of the labia": "HP:0000065", + "Enlargement of the vaginal lips": "HP:0000065", + "Labial hypoplasia": "HP:0000066", + "Hypoplastic labia": "HP:0000066", + "Underdeveloped labia": "HP:0000066", + "Urethral atresia, female": "HP:0000067", + "Urethral atresia": "HP:0000068", + "Absent urethral opening": "HP:0000068", + "Urethral opening absent": "HP:0000068", + "Abnormality of the ureter": "HP:0000069", + "Abnormality of the ureters": "HP:0000069", + "Ureter issue": "HP:0000069", + "Ureteral anomalies": "HP:0000069", + "Ureterocele": "HP:0000070", + "Ureteral stenosis": "HP:0000071", + "Narrowing of the ureter": "HP:0000071", + "Ureteric stenosis": "HP:0000071", + "Hydroureter": "HP:0000072", + "Dilated ureter": "HP:0000072", + "Megaureter": "HP:0000072", + "Swelling of ureter": "HP:0000072", + "Ureteral dilatation": "HP:0000072", + "Wide ureter": "HP:0000072", + "Uroureter": "HP:0000072", + "Ureteral duplication": "HP:0000073", + "Double ureter": "HP:0000073", + "Ureteropelvic junction obstruction": "HP:0000074", + "Pelviureteric junction obstruction": "HP:0000074", + "Ureteropelvic junction stenosis": "HP:0000074", + "Renal duplication": "HP:0000075", + "Extra kidney": "HP:0000075", + "Supernumerary kidney": "HP:0000075", + "Vesicoureteral reflux": "HP:0000076", + "Ureteral reflux": "HP:0000076", + "Ureteric reflux": "HP:0000076", + "VUR": "HP:0000076", + "Vesico-ureteral reflux": "HP:0000076", + "Vesicoureteric reflux": "HP:0000076", + "Abnormality of the kidney": "HP:0000077", + "Abnormal kidney": "HP:0000077", + "Renal anomalies": "HP:0000077", + "Renal anomaly": "HP:0000077", + "Abnormality of the genital system": "HP:0000078", + "Genital abnormalities": "HP:0000078", + "Genital abnormality": "HP:0000078", + "Genital anomalies": "HP:0000078", + "Genital defects": "HP:0000078", + "Abnormality of the reproductive system": "HP:0000078", + "Abnormality of the urinary system": "HP:0000079", + "Urinary tract abnormalities": "HP:0000079", + "Urinary tract abnormality": "HP:0000079", + "Urinary tract anomalies": "HP:0000079", + "Abnormality of reproductive system physiology": "HP:0000080", + "Abnormality of genital physiology": "HP:0000080", + "Genital functional abnormality": "HP:0000080", + "Duplicated collecting system": "HP:0000081", + "Double collecting system": "HP:0000081", + "Double urinary collecting systems on intravenous pyelography": "HP:0000081", + "Duplex collecting system": "HP:0000081", + "Duplicated renal collecting system": "HP:0000081", + "Renal insufficiency": "HP:0000083", + "Renal failure": "HP:0000083", + "Renal failure in adulthood": "HP:0000083", + "Horseshoe kidney": "HP:0000085", + "Fused kidneys": "HP:0000085", + "Horseshoe kidneys": "HP:0000085", + "Ectopic kidney": "HP:0000086", + "Abnormal kidney location": "HP:0000086", + "Displaced kidney": "HP:0000086", + "Ectopic kidneys": "HP:0000086", + "Renal ectopia": "HP:0000086", + "Renal hypoplasia": "HP:0000089", + "Hypoplastic kidney": "HP:0000089", + "Hypoplastic kidneys": "HP:0000089", + "Small kidneys": "HP:0000089", + "Underdeveloped kidneys": "HP:0000089", + "Nephronophthisis": "HP:0000090", + "juvenile nephronophthisis": "HP:0000090", + "Abnormal renal tubule morphology": "HP:0000091", + "Abnormality of the renal tubule": "HP:0000091", + "Morphologic abnormality of the renal tubules": "HP:0000091", + "Renal tubular atrophy": "HP:0000092", + "Renal tubular cell atrophy": "HP:0000092", + "Tubular atrophy": "HP:0000092", + "Proteinuria": "HP:0000093", + "High urine protein levels": "HP:0000093", + "Protein in urine": "HP:0000093", + "Abnormal renal glomerulus morphology": "HP:0000095", + "Abnormality of renal glomerulus morphology": "HP:0000095", + "Morphologic abnormality of the renal glomerulus": "HP:0000095", + "Glomerular sclerosis": "HP:0000096", + "Renal glomerular fibrosis": "HP:0000096", + "Glomerulosclerosis": "HP:0000096", + "Focal segmental glomerulosclerosis": "HP:0000097", + "Focal and segmental glomerular sclerosis": "HP:0000097", + "Focal and segmental glomerulosclerosis": "HP:0000097", + "focal glomerulosclerosis": "HP:0000097", + "Tall stature": "HP:0000098", + "Accelerated linear growth": "HP:0000098", + "Increased body height": "HP:0000098", + "Increased linear growth": "HP:0000098", + "Glomerulonephritis": "HP:0000099", + "Glomerular nephritis": "HP:0000099", + "Nephrotic syndrome": "HP:0000100", + "Nephrosis": "HP:0000100", + "Polyuria": "HP:0000103", + "Increased urine output": "HP:0000103", + "Renal agenesis": "HP:0000104", + "Absent kidney": "HP:0000104", + "Missing kidney": "HP:0000104", + "Renal aplasia": "HP:0000104", + "Enlarged kidney": "HP:0000105", + "Large kidneys": "HP:0000105", + "Nephromegaly": "HP:0000105", + "Renal enlargement": "HP:0000105", + "Large kidney": "HP:0000105", + "Renal cyst": "HP:0000107", + "Kidney cyst": "HP:0000107", + "Cystic kidney disease": "HP:0000107", + "Cystic kidneys": "HP:0000107", + "Renal cysts": "HP:0000107", + "Renal corticomedullary cysts": "HP:0000108", + "Corticomedullary renal cysts": "HP:0000108", + "Renal corticomedullary cystic disease": "HP:0000108", + "Renal dysplasia": "HP:0000110", + "Dysplastic kidneys": "HP:0000110", + "Renal adysplasia": "HP:0000110", + "Renal juxtaglomerular cell hypertrophy/hyperplasia": "HP:0000111", + "Nephropathy": "HP:0000112", + "Kidney damage": "HP:0000112", + "Kidney disease": "HP:0000112", + "Polycystic kidney dysplasia": "HP:0000113", + "Polycystic kidneys": "HP:0000113", + "Polycystic kidney disease": "HP:0000113", + "Proximal tubulopathy": "HP:0000114", + "Proximal renal tubule defect": "HP:0000114", + "Proximal renal tubulopathy": "HP:0000114", + "Proximal tubular defect": "HP:0000114", + "Proximal tubule dysfunction": "HP:0000114", + "Selective proximal tubular damage": "HP:0000114", + "Renal phosphate wasting": "HP:0000117", + "Decreased renal tubular phosphate reabsorption": "HP:0000117", + "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate": "HP:0000117", + "Tubular phosphate reabsorption low": "HP:0000117", + "Phenotypic abnormality": "HP:0000118", + "Organ abnormality": "HP:0000118", + "Abnormality of the genitourinary system": "HP:0000119", + "Abnormality of the GU system": "HP:0000119", + "Genitourinary abnormality": "HP:0000119", + "Genitourinary tract anomalies": "HP:0000119", + "Genitourinary tract malformation": "HP:0000119", + "Urogenital abnormalities": "HP:0000119", + "Urogenital anomalies": "HP:0000119", + "Genitourinary disease": "HP:0000119", + "Genitourinary dysplasia": "HP:0000119", + "Nephrocalcinosis": "HP:0000121", + "Too much calcium deposited in kidneys": "HP:0000121", + "Increased calcium level in kidney": "HP:0000121", + "Unilateral renal agenesis": "HP:0000122", + "Absent kidney on one side": "HP:0000122", + "Missing one kidney": "HP:0000122", + "Single kidney": "HP:0000122", + "Unilateral kidney agenesis": "HP:0000122", + "Nephritis": "HP:0000123", + "Kidney inflammation": "HP:0000123", + "Renal tubular dysfunction": "HP:0000124", + "Abnormal function of filtrating structures in kidney": "HP:0000124", + "Renal tubular defect": "HP:0000124", + "Renal tubular disease": "HP:0000124", + "Pelvic kidney": "HP:0000125", + "Sacral kidney": "HP:0000125", + "Hydronephrosis": "HP:0000126", + "Renal salt wasting": "HP:0000127", + "Loss of salt in urine": "HP:0000127", + "Renal salt-wasting": "HP:0000127", + "Salt wasting": "HP:0000127", + "Salt-wasting": "HP:0000127", + "Renal potassium wasting": "HP:0000128", + "Renal K wasting": "HP:0000128", + "Abnormality of the uterus": "HP:0000130", + "Uterine abnormalities": "HP:0000130", + "Uterine malformations": "HP:0000130", + "Uterine leiomyoma": "HP:0000131", + "Benign uterine leiomyomas": "HP:0000131", + "Uterine fibroid": "HP:0000131", + "Menorrhagia": "HP:0000132", + "Abnormally heavy bleeding during menstruation": "HP:0000132", + "Abnormally heavy periods": "HP:0000132", + "Hypermenorrhea": "HP:0000132", + "Gonadal dysgenesis": "HP:0000133", + "Mixed gonadal dysgenesis": "HP:0000133", + "Pure gonadal dysgenesis": "HP:0000133", + "Female hypogonadism": "HP:0000134", + "Hypogonadism, female": "HP:0000134", + "Hypogonadism": "HP:0000135", + "Decreased activity of gonads": "HP:0000135", + "Bifid uterus": "HP:0000136", + "Abnormality of the ovary": "HP:0000137", + "Abnormality of the ovaries": "HP:0000137", + "Ovarian disease": "HP:0000137", + "Ovarian cyst": "HP:0000138", + "Cystic abnormalities of the ovaries": "HP:0000138", + "Cystic ovaries": "HP:0000138", + "Ovarian cystic abnormality": "HP:0000138", + "Uterine prolapse": "HP:0000139", + "Sagging uterus": "HP:0000139", + "Abnormality of the menstrual cycle": "HP:0000140", + "Menstrual abnormalities": "HP:0000140", + "Amenorrhea": "HP:0000141", + "Abnormal absence of menstruation": "HP:0000141", + "Abnormal vagina morphology": "HP:0000142", + "Vaginal malformation": "HP:0000142", + "Rectovaginal fistula": "HP:0000143", + "Abnormal connection between rectum and vagina": "HP:0000143", + "Decreased fertility": "HP:0000144", + "Abnormal fertility": "HP:0000144", + "Transverse vaginal septum": "HP:0000145", + "Transverse vaginal membrane": "HP:0000145", + "Polycystic ovaries": "HP:0000147", + "Polycystic ovary": "HP:0000147", + "Sclerocystic ovaries": "HP:0000147", + "Polycystic ovary disease": "HP:0000147", + "Vaginal atresia": "HP:0000148", + "Abnormally closed or absent vagina": "HP:0000148", + "Ovarian gonadoblastoma": "HP:0000149", + "Gonadoblastoma, female": "HP:0000149", + "Gonadoblastoma": "HP:0000150", + "Aplasia of the uterus": "HP:0000151", + "Absent uterus": "HP:0000151", + "uterus absent": "HP:0000151", + "Abnormality of head or neck": "HP:0000152", + "Head and neck abnormality": "HP:0000152", + "Abnormality of the mouth": "HP:0000153", + "Abnormal mouth": "HP:0000153", + "Wide mouth": "HP:0000154", + "Broad mouth": "HP:0000154", + "Large mouth": "HP:0000154", + "Large oral aperture": "HP:0000154", + "Macrostomia": "HP:0000154", + "Oral ulcer": "HP:0000155", + "Mouth sore": "HP:0000155", + "Mouth ulcer": "HP:0000155", + "Oral mucosal ulceration": "HP:0000155", + "Abnormality of the tongue": "HP:0000157", + "Abnormal tongue": "HP:0000157", + "Glossal abnormality": "HP:0000157", + "Lingual abnormality": "HP:0000157", + "Tongue abnormality": "HP:0000157", + "Macroglossia": "HP:0000158", + "Glossal hypertrophy": "HP:0000158", + "Lingual hyperplasia": "HP:0000158", + "Lingual hypertrophy": "HP:0000158", + "Abnormally large tongue": "HP:0000158", + "Hyperplasia of the tongue": "HP:0000158", + "Hypertrophy of the tongue": "HP:0000158", + "Increased size of tongue": "HP:0000158", + "Large tongue": "HP:0000158", + "Tongue hypertrophy": "HP:0000158", + "Abnormal lip morphology": "HP:0000159", + "Abnormal lip": "HP:0000159", + "Abnormality of the lip": "HP:0000159", + "Lip abnormality": "HP:0000159", + "Anomaly of lip": "HP:0000159", + "Deformity of lip": "HP:0000159", + "Malformation of lip": "HP:0000159", + "Narrow mouth": "HP:0000160", + "Microstomia": "HP:0000160", + "Small mouth": "HP:0000160", + "Small oral aperture": "HP:0000160", + "Median cleft upper lip": "HP:0000161", + "Central cleft upper lip": "HP:0000161", + "Midline cleft lip": "HP:0000161", + "Glossoptosis": "HP:0000162", + "Posterior displacement of the tongue": "HP:0000162", + "Lingual retraction": "HP:0000162", + "Retraction of the tongue": "HP:0000162", + "Abnormal oral cavity morphology": "HP:0000163", + "Abnormality of the oral cavity": "HP:0000163", + "Abnormality of the dentition": "HP:0000164", + "Abnormal dentition": "HP:0000164", + "Abnormal teeth": "HP:0000164", + "Dental abnormalities": "HP:0000164", + "Dental abnormality": "HP:0000164", + "Dental anomalies": "HP:0000164", + "Abnormality of the teeth": "HP:0000164", + "Dental problem": "HP:0000164", + "Dental problems": "HP:0000164", + "Tooth abnormalities": "HP:0000164", + "Severe periodontitis": "HP:0000166", + "Severe gum disease": "HP:0000166", + "Severe periodontal disease": "HP:0000166", + "Severe pyorrhea": "HP:0000166", + "Abnormality of the gingiva": "HP:0000168", + "Abnormality of the gums": "HP:0000168", + "Gingival abnormality": "HP:0000168", + "Gingival fibromatosis": "HP:0000169", + "Gingival fibroma": "HP:0000169", + "Gingival fibrous nodules": "HP:0000169", + "Hereditary gingival fibromatosis": "HP:0000169", + "Idiopathic gingival hyperplasia": "HP:0000169", + "Microglossia": "HP:0000171", + "Abnormally small tongue": "HP:0000171", + "Decreased size of tongue": "HP:0000171", + "Hypoglossia": "HP:0000171", + "Hypoplasia of the tongue": "HP:0000171", + "Hypoplastic tongue": "HP:0000171", + "Lingual hypoplasia": "HP:0000171", + "Rudimentary tongue": "HP:0000171", + "Small tongue": "HP:0000171", + "Underdevelopment of the tongue": "HP:0000171", + "Abnormal uvula morphology": "HP:0000172", + "Abnormality of palatine uvula": "HP:0000172", + "Abnormality of the uvula": "HP:0000172", + "Abnormal palate morphology": "HP:0000174", + "Abnormality of the palate": "HP:0000174", + "Abnormality of the roof of the mouth": "HP:0000174", + "Palatal anomaly": "HP:0000174", + "Palate abnormality": "HP:0000174", + "Cleft palate": "HP:0000175", + "Cleft secondary palate": "HP:0000175", + "Cleft hard and soft palate": "HP:0000175", + "Cleft of hard and soft palate": "HP:0000175", + "Cleft of palate": "HP:0000175", + "Cleft roof of mouth": "HP:0000175", + "Palatoschisis": "HP:0000175", + "Uranostaphyloschisis": "HP:0000175", + "Submucous cleft hard palate": "HP:0000176", + "Partial thickness cleft hard palate": "HP:0000176", + "Abnormal upper lip morphology": "HP:0000177", + "Abnormality of upper lip": "HP:0000177", + "Anomaly of the upper lip": "HP:0000177", + "Deformity of the upper lip": "HP:0000177", + "Malformation of the upper lip": "HP:0000177", + "Abnormal lower lip morphology": "HP:0000178", + "Abnormality of lower lip": "HP:0000178", + "Anomaly of the lower lip": "HP:0000178", + "Deformity of the lower lip": "HP:0000178", + "Malformation of the lower lip": "HP:0000178", + "Thick lower lip vermilion": "HP:0000179", + "Full lower lip vermilion": "HP:0000179", + "Increased height of lower lip vermilion": "HP:0000179", + "Increased volume of lower lip": "HP:0000179", + "Increased volume of lower lip vermilion": "HP:0000179", + "Plump lower lip": "HP:0000179", + "Prominent lower lip": "HP:0000179", + "Thick vermilion border of lower lip": "HP:0000179", + "Prominent lower lip vermilion": "HP:0000179", + "Thick red part of the lower lip": "HP:0000179", + "Full lower lip": "HP:0000179", + "Thick lower lip": "HP:0000179", + "Lobulated tongue": "HP:0000180", + "Bumpy tongue": "HP:0000180", + "Lingual lobules": "HP:0000180", + "Lobulate tongue": "HP:0000180", + "Movement abnormality of the tongue": "HP:0000182", + "Abnormality of lingual movement": "HP:0000182", + "Tongue muscle weakness": "HP:0000183", + "Cleft soft palate": "HP:0000185", + "Cleft muscular palate": "HP:0000185", + "Cleft of soft palate": "HP:0000185", + "Cleft velum": "HP:0000185", + "Broad alveolar ridges": "HP:0000187", + "Broad alveolar margins": "HP:0000187", + "Widened alveolar ridges": "HP:0000187", + "Broad alveolar processes of jaw": "HP:0000187", + "Wide alveolar margins": "HP:0000187", + "Wide alveolar processes of jaw": "HP:0000187", + "Wide gum ridges": "HP:0000187", + "Short upper lip": "HP:0000188", + "Decreased height of upper lip": "HP:0000188", + "Decreased upper labial height": "HP:0000188", + "Decreased upper labial length": "HP:0000188", + "Decreased vertical length of upper lip": "HP:0000188", + "Shortening of upper lip": "HP:0000188", + "Vertical deficiency of upper lip": "HP:0000188", + "Narrow palate": "HP:0000189", + "Decreased palatal width": "HP:0000189", + "Decreased transverse dimension of palate": "HP:0000189", + "Narrow roof of mouth": "HP:0000189", + "Abnormal oral frenulum morphology": "HP:0000190", + "Abnormality of frenum of tongue": "HP:0000190", + "Abnormality of lingual frenum": "HP:0000190", + "Abnormality of oral frenula": "HP:0000190", + "Abnormality of oral frenum": "HP:0000190", + "Accessory oral frenulum": "HP:0000191", + "Accessory oral frenum": "HP:0000191", + "Extra oral frenulum": "HP:0000191", + "Extra oral frenum": "HP:0000191", + "Multiple oral frenula": "HP:0000191", + "Supernumerary oral frenulum": "HP:0000191", + "Supernumerary oral frenum": "HP:0000191", + "Bifid uvula": "HP:0000193", + "Bifid palatine uvula": "HP:0000193", + "Cleft of uvula": "HP:0000193", + "Cleft uvula": "HP:0000193", + "Forked uvula": "HP:0000193", + "Split uvula": "HP:0000193", + "Uvula bifida": "HP:0000193", + "Open mouth": "HP:0000194", + "Gaped jawed appearance": "HP:0000194", + "Gaped mouthed appearance": "HP:0000194", + "Slack jawed appearance": "HP:0000194", + "Open mouth appearance": "HP:0000194", + "Lower lip pit": "HP:0000196", + "Abnormal parotid gland morphology": "HP:0000197", + "Abnormality of parotid gland": "HP:0000197", + "Anomaly of the parotid gland": "HP:0000197", + "Absence of Stensen duct": "HP:0000198", + "Absence of parotid duct": "HP:0000198", + "Absent stensen duct": "HP:0000198", + "Failure of development of parotid duct": "HP:0000198", + "Failure of development of stensen duct": "HP:0000198", + "Missing parotid duct": "HP:0000198", + "Missing stensen duct": "HP:0000198", + "Agenesis of parotid duct": "HP:0000198", + "Agenesis of stensen duct": "HP:0000198", + "Tongue nodules": "HP:0000199", + "Lingual nodules": "HP:0000199", + "Short lingual frenulum": "HP:0000200", + "Hypoplasia of lingual frenulum": "HP:0000200", + "Hypoplasia of lingual frenum": "HP:0000200", + "Hypoplasia of tongue frenulum": "HP:0000200", + "Hypoplasia of tongue frenum": "HP:0000200", + "Deficiency of lingual frenulum": "HP:0000200", + "Short lingual frenum": "HP:0000200", + "Short tongue frenulum": "HP:0000200", + "Short tongue frenum": "HP:0000200", + "Tight lingual frenulum": "HP:0000200", + "Pierre-Robin sequence": "HP:0000201", + "Pierre Robin sequence": "HP:0000201", + "Pierre-robin anomaly": "HP:0000201", + "Pierre-robin deformity": "HP:0000201", + "Pierre-robin malformation": "HP:0000201", + "Robin sequence": "HP:0000201", + "Orofacial cleft": "HP:0000202", + "Cleft of the mouth": "HP:0000202", + "Oral cleft": "HP:0000202", + "Oral clefting": "HP:0000202", + "Cleft lip, cleft palate": "HP:0000202", + "Cleft lip/palate": "HP:0000202", + "Cleft upper lip": "HP:0000204", + "Cheiloschisis of upper lip": "HP:0000204", + "Harelip": "HP:0000204", + "Cleft of upper lip": "HP:0000204", + "Pursed lips": "HP:0000205", + "Tightly closed lips": "HP:0000205", + "Glossitis": "HP:0000206", + "Inflammation of the tongue": "HP:0000206", + "Lingual inflammation": "HP:0000206", + "Smooth swollen tongue": "HP:0000206", + "Triangular mouth": "HP:0000207", + "Triangular shaped mouth": "HP:0000207", + "Triangular shaped oral aperture": "HP:0000207", + "Trismus": "HP:0000211", + "Decrease in jaw mobility": "HP:0000211", + "Decrease in jaw movement": "HP:0000211", + "Decrease in jaw opening": "HP:0000211", + "Decrease in mandibular mobility": "HP:0000211", + "Decrease in mandibular movement": "HP:0000211", + "Decrease in mandibular opening": "HP:0000211", + "Limited jaw mobility": "HP:0000211", + "Limited jaw movement": "HP:0000211", + "Limited jaw opening": "HP:0000211", + "Limited mandibular mobility": "HP:0000211", + "Limited mandibular opening": "HP:0000211", + "Limited mouth opening": "HP:0000211", + "Lockjaw": "HP:0000211", + "Pain of muscles of mastication": "HP:0000211", + "Gingival overgrowth": "HP:0000212", + "Gingival enlargement": "HP:0000212", + "Gingival hyperplasia": "HP:0000212", + "Gum enlargement": "HP:0000212", + "Gum hypertrophy": "HP:0000212", + "Hypertrophic gingivitis": "HP:0000212", + "Oral soft tissue hyperplasia": "HP:0000212", + "Lip telangiectasia": "HP:0000214", + "Labial telangiectasia": "HP:0000214", + "Lip telangiectases": "HP:0000214", + "Telangiectasia of the lips": "HP:0000214", + "Angioectasias of the lip": "HP:0000214", + "Labial angioectasias": "HP:0000214", + "Spider veins of the lip": "HP:0000214", + "Thick upper lip vermilion": "HP:0000215", + "Full upper lip": "HP:0000215", + "Full upper lip vermilion": "HP:0000215", + "Increased height of upper lip vermilion": "HP:0000215", + "Increased volume of upper lip": "HP:0000215", + "Increased volume of upper lip vermilion": "HP:0000215", + "Plump upper lip": "HP:0000215", + "Prominent upper lip": "HP:0000215", + "Thick upper lip": "HP:0000215", + "Thick vermilion border of upper lip": "HP:0000215", + "Prominent upper lip vermilion": "HP:0000215", + "Thick red part of the upper lip": "HP:0000215", + "Broad secondary alveolar ridge": "HP:0000216", + "Secondary alveolar ridges": "HP:0000216", + "Xerostomia": "HP:0000217", + "Decreased salivary flow": "HP:0000217", + "Dry mouth": "HP:0000217", + "Dry mouth syndrome": "HP:0000217", + "Reduced salivation": "HP:0000217", + "High palate": "HP:0000218", + "Elevated palate": "HP:0000218", + "High arched palate": "HP:0000218", + "High, arched palate": "HP:0000218", + "High-arched palate": "HP:0000218", + "Increased palatal height": "HP:0000218", + "Palate high-arched": "HP:0000218", + "Palate, high-arched": "HP:0000218", + "Ogival palate": "HP:0000218", + "Thin upper lip vermilion": "HP:0000219", + "Decreased height of upper lip vermilion": "HP:0000219", + "Decreased volume of upper lip": "HP:0000219", + "Decreased volume of upper lip vermilion": "HP:0000219", + "Thin upper lip": "HP:0000219", + "Thin vermilion border of upper lip": "HP:0000219", + "Thin red part of the upper lip": "HP:0000219", + "Thin upper lips": "HP:0000219", + "Velopharyngeal insufficiency": "HP:0000220", + "Velopharyngeal dysfunction": "HP:0000220", + "Velopharyngeal incompetence": "HP:0000220", + "Furrowed tongue": "HP:0000221", + "Fissured tongue": "HP:0000221", + "Grooved tongue": "HP:0000221", + "Lingua plicata": "HP:0000221", + "Lingual furrow": "HP:0000221", + "Plicated tongue": "HP:0000221", + "Prominent tongue grooves": "HP:0000221", + "Scrotal tongue": "HP:0000221", + "Gingival hyperkeratosis": "HP:0000222", + "Hyperkeratosis, gingival": "HP:0000222", + "Abnormality of taste sensation": "HP:0000223", + "Hypogeusia": "HP:0000224", + "Decreased taste": "HP:0000224", + "Decreased taste sensation": "HP:0000224", + "Gingival bleeding": "HP:0000225", + "Bleeding gums": "HP:0000225", + "Gingival haemorrhage": "HP:0000225", + "Gingival hemorrhage": "HP:0000225", + "Gingivorrhagia": "HP:0000225", + "Tongue telangiectasia": "HP:0000227", + "Lingual telangiectasia": "HP:0000227", + "Angioectasias of the tongue": "HP:0000227", + "Lingual angioectasias": "HP:0000227", + "Spider veins of the tongue": "HP:0000227", + "Oral cavity telangiectasia": "HP:0000228", + "Oral cavity teleangiectasia": "HP:0000228", + "Angioectasias of the mouth": "HP:0000228", + "Angioectasias of the oral cavity": "HP:0000228", + "Spider veins of the mouth": "HP:0000228", + "Spider veins of the oral cavity": "HP:0000228", + "Gingivitis": "HP:0000230", + "Gingival inflammation": "HP:0000230", + "Inflamed gums": "HP:0000230", + "Red and swollen gums": "HP:0000230", + "Everted lower lip vermilion": "HP:0000232", + "Drooping lower lip": "HP:0000232", + "Eclabium of lower lip": "HP:0000232", + "Everted lower lip": "HP:0000232", + "Everted prominent lower lip": "HP:0000232", + "Outward turned lower lip": "HP:0000232", + "Protruding lower lip": "HP:0000232", + "Thin vermilion border": "HP:0000233", + "Decreased volume of lip": "HP:0000233", + "Decreased volume of lip vermillion": "HP:0000233", + "Thin lips": "HP:0000233", + "Thin vermillion": "HP:0000233", + "Thin vermilion borders": "HP:0000233", + "Abnormality of the head": "HP:0000234", + "Abnormal head": "HP:0000234", + "Head abnormality": "HP:0000234", + "Abnormal cranial suture/fontanelle morphology": "HP:0000235", + "Abnormality of the fontanelles or cranial sutures": "HP:0000235", + "Abnormal anterior fontanelle morphology": "HP:0000236", + "Abnormality of the anterior fontanelle": "HP:0000236", + "Abnormality of the forehead soft spot": "HP:0000236", + "Small anterior fontanelle": "HP:0000237", + "Small anterior fontanel": "HP:0000237", + "Small forehead fontanel": "HP:0000237", + "Hydrocephalus": "HP:0000238", + "Hydrocephaly": "HP:0000238", + "Nonsyndromal hydrocephalus": "HP:0000238", + "Too much cerebrospinal fluid in the brain": "HP:0000238", + "Large fontanelles": "HP:0000239", + "Enlarged fontanelles": "HP:0000239", + "Large fontanel": "HP:0000239", + "Large fontanelle": "HP:0000239", + "Large fontanels": "HP:0000239", + "Persistent wide fontanel": "HP:0000239", + "Wide fontanelles": "HP:0000239", + "Large bregma sutures": "HP:0000239", + "Large, late-closing fontanelle": "HP:0000239", + "Wide bregma sutures": "HP:0000239", + "Abnormality of skull size": "HP:0000240", + "Abnormality of head size": "HP:0000240", + "Abnormality of cranium size": "HP:0000240", + "Parietal bossing": "HP:0000242", + "Biparietal bossing": "HP:0000242", + "Bossing of parietal bone": "HP:0000242", + "Trigonocephaly": "HP:0000243", + "Triangular head shape": "HP:0000243", + "Wedge shaped head": "HP:0000243", + "Triangular cranium shape": "HP:0000243", + "Triangular skull shape": "HP:0000243", + "Wedge shaped cranium": "HP:0000243", + "Wedge shaped skull": "HP:0000243", + "Brachyturricephaly": "HP:0000244", + "Brachy-turricephaly": "HP:0000244", + "High, prominent forehead": "HP:0000244", + "Turribrachycephaly": "HP:0000244", + "Abnormal paranasal sinus morphology": "HP:0000245", + "Abnormality of the sinuses": "HP:0000245", + "Abnormality of the sinuses of the head": "HP:0000245", + "Abnormality of the paranasal sinuses": "HP:0000245", + "Sinusitis": "HP:0000246", + "Sinus infection": "HP:0000246", + "Sinus inflammation": "HP:0000246", + "Sinus disease": "HP:0000246", + "Brachycephaly": "HP:0000248", + "Broad cranium shape": "HP:0000248", + "Broad head shape": "HP:0000248", + "Broad skull shape": "HP:0000248", + "Wide cranium shape": "HP:0000248", + "Wide head shape": "HP:0000248", + "Wide skull shape": "HP:0000248", + "Short and broad skull": "HP:0000248", + "Dense calvaria": "HP:0000250", + "Dense skull cap": "HP:0000250", + "Microcephaly": "HP:0000252", + "Abnormally small head": "HP:0000252", + "Decreased size of head": "HP:0000252", + "Small head": "HP:0000252", + "Small skull": "HP:0000252", + "Abnormally small cranium": "HP:0000252", + "Abnormally small skull": "HP:0000252", + "Decreased circumference of cranium": "HP:0000252", + "Decreased size of cranium": "HP:0000252", + "Decreased size of skull": "HP:0000252", + "Reduced head circumference": "HP:0000252", + "Small head circumference": "HP:0000252", + "small cranium": "HP:0000252", + "small calvarium": "HP:0000252", + "Progressive microcephaly": "HP:0000253", + "Microcephaly, postnatal, progressive": "HP:0000253", + "Microcephaly, progressive": "HP:0000253", + "Progressively abnormally small cranium": "HP:0000253", + "Progressively abnormally small skull": "HP:0000253", + "Acute sinusitis": "HP:0000255", + "Macrocephaly": "HP:0000256", + "Big calvaria": "HP:0000256", + "Big cranium": "HP:0000256", + "Big head": "HP:0000256", + "Big skull": "HP:0000256", + "Increased size of head": "HP:0000256", + "Large calvaria": "HP:0000256", + "Large cranium": "HP:0000256", + "Large skull": "HP:0000256", + "Increased size of cranium": "HP:0000256", + "Increased size of skull": "HP:0000256", + "Large head": "HP:0000256", + "Large head circumference": "HP:0000256", + "Macrocephalus": "HP:0000256", + "Macrocrania": "HP:0000256", + "Megacephaly": "HP:0000256", + "Wide anterior fontanel": "HP:0000260", + "Large anterior fontanel": "HP:0000260", + "Large anterior fontanelle": "HP:0000260", + "Large open anterior fontanel": "HP:0000260", + "Large open anterior fontanelle": "HP:0000260", + "Wide anterior fontanelle": "HP:0000260", + "Wide open anterior fontanelle": "HP:0000260", + "Wider-than-typical soft spot of skull": "HP:0000260", + "Large anterior fontanels": "HP:0000260", + "Turricephaly": "HP:0000262", + "Tall shaped head": "HP:0000262", + "Tall shaped cranium": "HP:0000262", + "Tall shaped skull": "HP:0000262", + "Tower cranium shape": "HP:0000262", + "Tower skull shape": "HP:0000262", + "Turricephalus": "HP:0000262", + "Oxycephaly": "HP:0000263", + "Acrocephaly": "HP:0000263", + "Abnormal mastoid morphology": "HP:0000264", + "Abnormality of mastoid process of temporal bone": "HP:0000264", + "Abnormality of the mastoid": "HP:0000264", + "Mastoiditis": "HP:0000265", + "Cranial asymmetry": "HP:0000267", + "Asymmetry of head": "HP:0000267", + "Uneven head shape": "HP:0000267", + "Asymmetry of cranium": "HP:0000267", + "Cranial vault asymmetry": "HP:0000267", + "Abnormality of cranial vault shape": "HP:0000267", + "Abnormality of cranium shape": "HP:0000267", + "Abnormality of head shape": "HP:0000267", + "Malformation of cranial vault shape": "HP:0000267", + "Malformation of cranium shape": "HP:0000267", + "Malformation of head shape": "HP:0000267", + "Dolichocephaly": "HP:0000268", + "Narrow cranium shape": "HP:0000268", + "Narrow head shape": "HP:0000268", + "Narrow skull shape": "HP:0000268", + "Turridolichocephaly": "HP:0000268", + "Long, narrow head": "HP:0000268", + "Tall and narrow skull": "HP:0000268", + "Large dolichocephalic skull": "HP:0000268", + "Prominent occiput": "HP:0000269", + "Prominent back of the head": "HP:0000269", + "Prominent posterior head": "HP:0000269", + "Protruding back of the head": "HP:0000269", + "Prominent back of the skull": "HP:0000269", + "Prominent posterior cranium": "HP:0000269", + "Prominent posterior skull": "HP:0000269", + "Protruding occiput": "HP:0000269", + "Delayed cranial suture closure": "HP:0000270", + "Broad late closing cranial sutures": "HP:0000270", + "Delayed closure of fontanel": "HP:0000270", + "Delayed closure of fontanelles": "HP:0000270", + "Delayed closure of fontanels": "HP:0000270", + "Delayed closure of the fontanelles": "HP:0000270", + "Delayed fontanel closure": "HP:0000270", + "Delayed fontanelle closure": "HP:0000270", + "Late closing fontanelles": "HP:0000270", + "Late closure of fontanelle": "HP:0000270", + "Late-closing fontanelle": "HP:0000270", + "Open sutures": "HP:0000270", + "Abnormality of the face": "HP:0000271", + "Abnormality of the countenance": "HP:0000271", + "Abnormality of the physiognomy": "HP:0000271", + "Abnormality of the visage": "HP:0000271", + "Disorder of face": "HP:0000271", + "Abnormal face": "HP:0000271", + "Facial abnormality": "HP:0000271", + "Disorder of the face": "HP:0000271", + "Anomaly of face": "HP:0000271", + "Anomaly of the face": "HP:0000271", + "Facial anomaly": "HP:0000271", + "Malar flattening": "HP:0000272", + "Decreased size of malar bone": "HP:0000272", + "Depressed malar region": "HP:0000272", + "Flat cheekbone": "HP:0000272", + "Malar hypoplasia": "HP:0000272", + "Underdevelopment of malar bone": "HP:0000272", + "Zygomatic flattening": "HP:0000272", + "Hypotrophic malar bone": "HP:0000272", + "Facial grimacing": "HP:0000273", + "Small face": "HP:0000274", + "Facial hypoplasia": "HP:0000274", + "Hypoplasia of face": "HP:0000274", + "Microface": "HP:0000274", + "Microfacies": "HP:0000274", + "Short and narrow face": "HP:0000274", + "Small facies": "HP:0000274", + "Narrow face": "HP:0000275", + "Decreased breadth of face": "HP:0000275", + "Decreased horizontal dimension of face": "HP:0000275", + "Decreased transverse dimension of face": "HP:0000275", + "Decreased width of face": "HP:0000275", + "Horizontal deficiency of face": "HP:0000275", + "Horizontal hypoplasia of face": "HP:0000275", + "Horizontal insufficiency of face": "HP:0000275", + "Narrow facies": "HP:0000275", + "Thin facies": "HP:0000275", + "Transverse deficiency of face": "HP:0000275", + "Transverse hypoplasia of face": "HP:0000275", + "Transverse insufficiency of face": "HP:0000275", + "Thin face": "HP:0000275", + "Long face": "HP:0000276", + "Elongation of face": "HP:0000276", + "Increased height of face": "HP:0000276", + "Increased length of face": "HP:0000276", + "Increased vertical dimension of face": "HP:0000276", + "Long facies": "HP:0000276", + "Vertical Facial Excess": "HP:0000276", + "Vertical elongation of face": "HP:0000276", + "Vertical enlargement of face": "HP:0000276", + "Vertical excess of face": "HP:0000276", + "Vertical hyperplasia of face": "HP:0000276", + "Vertical overgrowth of face": "HP:0000276", + "Abnormal mandible morphology": "HP:0000277", + "Abnormality of the lower jaw bone": "HP:0000277", + "Abnormality of the mandible": "HP:0000277", + "Anomaly of the mandible": "HP:0000277", + "Deformity of the lower jaw bone": "HP:0000277", + "Deformity of the mandible": "HP:0000277", + "Malformation of the lower jaw bone": "HP:0000277", + "Malformation of the mandible": "HP:0000277", + "Retrognathia": "HP:0000278", + "Lower jaw retrognathia": "HP:0000278", + "Lower jaw retrusion": "HP:0000278", + "Mandibular retrognathia": "HP:0000278", + "Mandibular retrusion": "HP:0000278", + "Receding chin": "HP:0000278", + "Receding lower jaw": "HP:0000278", + "Receding mandible": "HP:0000278", + "Retrognathia of lower jaw": "HP:0000278", + "Retrusion of lower jaw": "HP:0000278", + "Weak chin": "HP:0000278", + "Weak jaw": "HP:0000278", + "Retrogenia": "HP:0000278", + "Coarse facial features": "HP:0000280", + "Coarse face": "HP:0000280", + "Coarse facial appearance": "HP:0000280", + "Coarse facies": "HP:0000280", + "Rounded and heavy facial features": "HP:0000280", + "Thickened facial skin with coarse facial features": "HP:0000280", + "Facial edema": "HP:0000282", + "Facial oedema": "HP:0000282", + "Facial puffiness": "HP:0000282", + "Facial swelling": "HP:0000282", + "Swelling of the face": "HP:0000282", + "Broad face": "HP:0000283", + "Broad facies": "HP:0000283", + "Horizontal excess of face": "HP:0000283", + "Horizontal hyperplasia of face": "HP:0000283", + "Increased breadth of face": "HP:0000283", + "Increased horizontal dimension of face": "HP:0000283", + "Increased transverse dimension of face": "HP:0000283", + "Increased width of face": "HP:0000283", + "Transverse excess of face": "HP:0000283", + "Transverse hyperplasia of face": "HP:0000283", + "Wide face": "HP:0000283", + "Wide facies": "HP:0000283", + "obsolete Abnormality of the ocular region": "HP:0000284", + "Epicanthus": "HP:0000286", + "Epicanthal fold": "HP:0000286", + "Epicanthal folds": "HP:0000286", + "Epicanthic folds": "HP:0000286", + "Eye folds": "HP:0000286", + "Palpebronasal fold": "HP:0000286", + "Plica palpebronasalis": "HP:0000286", + "Prominent eye folds": "HP:0000286", + "Increased facial adipose tissue": "HP:0000287", + "Increased amount of facial adipose tissue": "HP:0000287", + "Increased amount of facial fat": "HP:0000287", + "Increased volume of facial adipose tissue": "HP:0000287", + "Facial fat hyperplasia": "HP:0000287", + "Facial fat hypertrophy": "HP:0000287", + "Hyperplasia of facial adipose tissue": "HP:0000287", + "Hypertrophy of facial adipose tissue": "HP:0000287", + "Abnormality of the philtrum": "HP:0000288", + "Abnormal philtrum": "HP:0000288", + "Abnormality of the infranasal depression": "HP:0000288", + "Abnormality of the paralabial region": "HP:0000288", + "Broad philtrum": "HP:0000289", + "Increased breadth of philtrum": "HP:0000289", + "Increased horizontal dimension of philtrum": "HP:0000289", + "Increased transverse dimension of philtrum": "HP:0000289", + "Increased width of philtrum": "HP:0000289", + "Wide philtrum": "HP:0000289", + "Abnormal forehead morphology": "HP:0000290", + "Abnormality of the forehead": "HP:0000290", + "Abnormality of the frontal region of the face": "HP:0000290", + "Anomaly of the forehead": "HP:0000290", + "Deformity of the forehead": "HP:0000290", + "Malformation of the forehead": "HP:0000290", + "Abnormality of facial adipose tissue": "HP:0000291", + "Abnormality of facial fat": "HP:0000291", + "Deformity of facial adipose tissue": "HP:0000291", + "Malformation of facial adipose tissue": "HP:0000291", + "Loss of facial adipose tissue": "HP:0000292", + "Decreased amount of facial adipose tissue": "HP:0000292", + "Decreased amount of facial fat": "HP:0000292", + "Decreased volume of facial adipose tissue": "HP:0000292", + "Loss of facial fat": "HP:0000292", + "Loss of facial subcutaneous adipose tissue": "HP:0000292", + "Loss of subcutaneous adipose tissue from face": "HP:0000292", + "Full cheeks": "HP:0000293", + "Apple cheeks": "HP:0000293", + "Big cheeks": "HP:0000293", + "Increased size of cheeks": "HP:0000293", + "Large cheeks": "HP:0000293", + "Chubby cheeks": "HP:0000293", + "Hyperplasia of cheeks": "HP:0000293", + "Hypertrophy of cheeks": "HP:0000293", + "Puffy cheeks": "HP:0000293", + "Low anterior hairline": "HP:0000294", + "Low frontal hairline": "HP:0000294", + "Low-set frontal hairline": "HP:0000294", + "Doll-like facies": "HP:0000295", + "Doll-like facial appearance": "HP:0000295", + "Facial hypotonia": "HP:0000297", + "Decreased facial muscle tone": "HP:0000297", + "Hypotonic facies": "HP:0000297", + "Low facial muscle tone": "HP:0000297", + "Reduced facial muscle tone": "HP:0000297", + "Atony of facial musculature": "HP:0000297", + "Mask-like facies": "HP:0000298", + "Amimia": "HP:0000298", + "Expressionless face": "HP:0000298", + "Lack of facial expression": "HP:0000298", + "Mask-like facial appearance": "HP:0000298", + "Masklike facies": "HP:0000298", + "Oval face": "HP:0000300", + "Oval facial shape": "HP:0000300", + "Oval facies": "HP:0000300", + "Abnormality of facial musculature": "HP:0000301", + "Abnormality of facial muscles": "HP:0000301", + "Facial muscle issue": "HP:0000301", + "Mandibular prognathia": "HP:0000303", + "Hypertrophy of lower jaw": "HP:0000303", + "Hypertrophy of mandible": "HP:0000303", + "Big lower jaw": "HP:0000303", + "Big mandible": "HP:0000303", + "Enlarged mandible": "HP:0000303", + "Enlargement of mandible": "HP:0000303", + "Hyperplasia of lower jaw": "HP:0000303", + "Increased projection of lower jaw": "HP:0000303", + "Increased projection of mandible": "HP:0000303", + "Increased size of lower jaw": "HP:0000303", + "Large lower jaw": "HP:0000303", + "Large mandible": "HP:0000303", + "Lower jaw excess": "HP:0000303", + "Lower jaw hyperplasia": "HP:0000303", + "Macromandible": "HP:0000303", + "Mandible prognathism": "HP:0000303", + "Mandibular excess": "HP:0000303", + "Mandibular hyperplasia": "HP:0000303", + "Mandibular macrognathia": "HP:0000303", + "Mandibular prognathism": "HP:0000303", + "Prognathia": "HP:0000303", + "Prognathism": "HP:0000303", + "Prominent chin": "HP:0000303", + "Prominent jaw": "HP:0000303", + "Prominent lower jaw": "HP:0000303", + "Prominent mandible": "HP:0000303", + "Relative mandibular prognathism": "HP:0000303", + "Increased size of mandible": "HP:0000303", + "Abnormality of the chin": "HP:0000306", + "Abnormality of the menton": "HP:0000306", + "Anomaly of the chin": "HP:0000306", + "Deformity of the chin": "HP:0000306", + "Malformation of the chin": "HP:0000306", + "Pointed chin": "HP:0000307", + "Pointed mention region": "HP:0000307", + "Pointy chin": "HP:0000307", + "Small pointed chin": "HP:0000307", + "Witch's chin": "HP:0000307", + "Microretrognathia": "HP:0000308", + "Retromicrognathia": "HP:0000308", + "Small retruded chin": "HP:0000308", + "Abnormal midface morphology": "HP:0000309", + "Abnormal morphology of the midface": "HP:0000309", + "Abnormality of the midface": "HP:0000309", + "Anomaly of the midface": "HP:0000309", + "Deformity of the midface": "HP:0000309", + "Malformation of the midface": "HP:0000309", + "Round face": "HP:0000311", + "Round, full face": "HP:0000311", + "Circular face": "HP:0000311", + "Round facial appearance": "HP:0000311", + "Round facial shape": "HP:0000311", + "Round facies": "HP:0000311", + "Abnormality of the orbital region": "HP:0000315", + "Abnormality of the eye region": "HP:0000315", + "Abnormality of the region around the eyes": "HP:0000315", + "Anomaly of the orbital region of the face": "HP:0000315", + "Deformity of the orbital region of the face": "HP:0000315", + "Malformation of the orbital region of the face": "HP:0000315", + "Hypertelorism": "HP:0000316", + "Excessive orbital separation": "HP:0000316", + "Increased distance between eye sockets": "HP:0000316", + "Increased distance between eyes": "HP:0000316", + "Increased interpupillary distance": "HP:0000316", + "Ocular hypertelorism": "HP:0000316", + "Wide-set eyes": "HP:0000316", + "Widely spaced eyes": "HP:0000316", + "Widened interpupillary distance": "HP:0000316", + "Facial myokymia": "HP:0000317", + "Involuntary facial contraction": "HP:0000317", + "Involuntary facial quivering": "HP:0000317", + "Smooth philtrum": "HP:0000319", + "Decreased depth of philtrum": "HP:0000319", + "Flat philtrum": "HP:0000319", + "Indistinct philtrum": "HP:0000319", + "Philtrum, smooth": "HP:0000319", + "Shallow philtrum": "HP:0000319", + "Simple philtrum": "HP:0000319", + "Bird-like facies": "HP:0000320", + "Bird-like facial appearance": "HP:0000320", + "Square face": "HP:0000321", + "Square facial shape": "HP:0000321", + "Square facies": "HP:0000321", + "Short philtrum": "HP:0000322", + "Decreased height of philtrum": "HP:0000322", + "Decreased length of philtrum": "HP:0000322", + "Decreased vertical dimension of philtrum": "HP:0000322", + "Vertical hypoplasia of philtrum": "HP:0000322", + "Facial asymmetry": "HP:0000324", + "Asymmetric facies": "HP:0000324", + "Asymmetry of face": "HP:0000324", + "Asymmetry of right and left side of face": "HP:0000324", + "Crooked face": "HP:0000324", + "Unsymmetrical face": "HP:0000324", + "Unbalanced face": "HP:0000324", + "Unequal sides of face": "HP:0000324", + "Uneven face": "HP:0000324", + "Uneven sides of face": "HP:0000324", + "Triangular face": "HP:0000325", + "Face with broad temples and narrow chin": "HP:0000325", + "Inverted triangular face": "HP:0000325", + "Triangular facial shape": "HP:0000325", + "Triangular facies": "HP:0000325", + "Abnormal maxilla morphology": "HP:0000326", + "Abnormality of the maxilla": "HP:0000326", + "Abnormality of the upper jaw bone": "HP:0000326", + "Abnormality of the upper jaw bones": "HP:0000326", + "Anomaly of the maxilla": "HP:0000326", + "Deformity of the maxilla": "HP:0000326", + "Deformity of the upper jaw bones": "HP:0000326", + "Malformation of the maxilla": "HP:0000326", + "Malformation of the upper jaw bones": "HP:0000326", + "Hypoplasia of the maxilla": "HP:0000327", + "Deficiency of upper jaw bones": "HP:0000327", + "Decreased size of maxilla": "HP:0000327", + "Decreased size of upper jaw": "HP:0000327", + "Hypoplasia of upper jaw bones": "HP:0000327", + "Hypoplastic maxillary bones": "HP:0000327", + "Maxillary deficiency": "HP:0000327", + "Maxillary hypoplasia": "HP:0000327", + "Maxillary micrognathia": "HP:0000327", + "Maxillary retrognathia": "HP:0000327", + "Maxillary retrusion": "HP:0000327", + "Micromaxilla": "HP:0000327", + "Small maxilla": "HP:0000327", + "Small upper jaw": "HP:0000327", + "Small upper jaw bones": "HP:0000327", + "Upper jaw deficiency": "HP:0000327", + "Upper jaw retrusion": "HP:0000327", + "Decreased projection of maxilla": "HP:0000327", + "Decreased projection of upper jaw": "HP:0000327", + "Hypotrophic maxilla": "HP:0000327", + "Hypotrophic upper jaw bones": "HP:0000327", + "Retrognathia of upper jaw": "HP:0000327", + "Retrusion of upper jaw bones": "HP:0000327", + "Facial hemangioma": "HP:0000329", + "Facial hemangiomata": "HP:0000329", + "Short chin": "HP:0000331", + "Decreased height of chin": "HP:0000331", + "Short lower third of face": "HP:0000331", + "Vertical deficiency of chin": "HP:0000331", + "Vertical hypoplasia of chin": "HP:0000331", + "Small chin": "HP:0000331", + "Prominent supraorbital ridges": "HP:0000336", + "Prominent brow": "HP:0000336", + "Prominent supraorbital margins": "HP:0000336", + "Prominent supraorbital ridge": "HP:0000336", + "Protruding supraorbital ridge": "HP:0000336", + "Supraorbital hyperostosis": "HP:0000336", + "Hyperplasia of supraorbital margins": "HP:0000336", + "Hyperplasia of supraorbital ridge": "HP:0000336", + "Hypertrophy of supraorbital margins": "HP:0000336", + "Hypertrophy of supraorbital ridge": "HP:0000336", + "Broad forehead": "HP:0000337", + "Bitemporal widening": "HP:0000337", + "Increased bitemporal dimension": "HP:0000337", + "Increased bitemporal width": "HP:0000337", + "Increased width of the forehead": "HP:0000337", + "Intertemporal widening": "HP:0000337", + "Wide forehead": "HP:0000337", + "Hypomimic face": "HP:0000338", + "Dull facial expression": "HP:0000338", + "Hypomimia": "HP:0000338", + "Decreased facial expressions": "HP:0000338", + "Decreased facial muscle movement": "HP:0000338", + "Pugilistic facies": "HP:0000339", + "Boxer-like facial appearance": "HP:0000339", + "Pugilistic facial appearance": "HP:0000339", + "Sloping forehead": "HP:0000340", + "Inclined forehead": "HP:0000340", + "Posteriorly sloping forehead": "HP:0000340", + "Receding forehead": "HP:0000340", + "Narrow forehead": "HP:0000341", + "Bitemporal narrowing": "HP:0000341", + "Bitemporal narrowness": "HP:0000341", + "Bitemporal skull narrowing": "HP:0000341", + "Decreased width of the forehead": "HP:0000341", + "Intertemporal narrowing": "HP:0000341", + "Narrow bitemporal diameter": "HP:0000341", + "Narrow bitemporal width": "HP:0000341", + "Temporal narrowness": "HP:0000341", + "Long philtrum": "HP:0000343", + "Elongated philtrum": "HP:0000343", + "Increased height of philtrum": "HP:0000343", + "Increased length of philtrum": "HP:0000343", + "Increased vertical dimension of philtrum": "HP:0000343", + "Vertical hyperplasia of philtrum": "HP:0000343", + "Whistling appearance": "HP:0000346", + "Whistling facial appearance": "HP:0000346", + "Micrognathia": "HP:0000347", + "Deficiency of lower jaw": "HP:0000347", + "Decreased size of lower jaw": "HP:0000347", + "Decreased size of mandible": "HP:0000347", + "Hypoplasia of lower jaw": "HP:0000347", + "Hypoplasia of mandible": "HP:0000347", + "Hypoplastic mandible": "HP:0000347", + "Hypoplastic mandible condyle": "HP:0000347", + "Hypotrophic lower jaw": "HP:0000347", + "Hypotrophic mandible": "HP:0000347", + "Little lower jaw": "HP:0000347", + "Little mandible": "HP:0000347", + "Lower jaw deficiency": "HP:0000347", + "Lower jaw hypoplasia": "HP:0000347", + "Mandibular deficiency": "HP:0000347", + "Mandibular hypoplasia": "HP:0000347", + "Mandibular micrognathia": "HP:0000347", + "Micrognathia of lower jaw": "HP:0000347", + "Micromandible": "HP:0000347", + "Robin mandible": "HP:0000347", + "Severe hypoplasia of mandible": "HP:0000347", + "Small jaw": "HP:0000347", + "Small lower jaw": "HP:0000347", + "Small mandible": "HP:0000347", + "Underdevelopment of lower jaw": "HP:0000347", + "Underdevelopment of mandible": "HP:0000347", + "Decreased projection of lower jaw": "HP:0000347", + "Decreased projection of mandible": "HP:0000347", + "High forehead": "HP:0000348", + "Tall forehead": "HP:0000348", + "Widow's peak": "HP:0000349", + "Hairline peak": "HP:0000349", + "Hairline point": "HP:0000349", + "Pointed frontal hairline": "HP:0000349", + "Pointed hairline at front of head": "HP:0000349", + "V-shaped frontal hairline": "HP:0000349", + "Small forehead": "HP:0000350", + "Decreased size of forehead": "HP:0000350", + "Decreased size of frontal region of face": "HP:0000350", + "Hypoplasia of forehead": "HP:0000350", + "Hypotrophic forehead": "HP:0000350", + "Abnormality of the outer ear": "HP:0000356", + "Abnormal pinnae": "HP:0000356", + "Abnormality of the auricle": "HP:0000356", + "Abnormality of the external ear": "HP:0000356", + "Ear anomalies": "HP:0000356", + "External ear malformation": "HP:0000356", + "External ear malformations": "HP:0000356", + "Malformed pinnae": "HP:0000356", + "Outer ear abnormality": "HP:0000356", + "Abnormal location of ears": "HP:0000357", + "External ear position defect": "HP:0000357", + "Posteriorly rotated ears": "HP:0000358", + "Ear, posterior angulation, increased": "HP:0000358", + "Ears rotated toward back of head": "HP:0000358", + "Posteriorly angulated ears": "HP:0000358", + "Posteriorly rotated": "HP:0000358", + "Posteriorly rotated auricles": "HP:0000358", + "Posteriorly-angulated ears": "HP:0000358", + "Posteriorly-rotated ears": "HP:0000358", + "Abnormality of the inner ear": "HP:0000359", + "Inner ear abnormality": "HP:0000359", + "Tinnitus": "HP:0000360", + "Ringing in ears": "HP:0000360", + "Ringing in the ears": "HP:0000360", + "obsolete Pulsatile tinnitus (tympanic paraganglioma)": "HP:0000361", + "Otosclerosis": "HP:0000362", + "Abnormal earlobe morphology": "HP:0000363", + "Abnormal earlobe": "HP:0000363", + "Abnormal lobe of ear": "HP:0000363", + "Abnormality of auricular lobule": "HP:0000363", + "Abnormality of ear lobe": "HP:0000363", + "Abnormality of earlobe": "HP:0000363", + "Abnormality of lobulus auriculae": "HP:0000363", + "Hearing abnormality": "HP:0000364", + "Abnormal hearing": "HP:0000364", + "Hearing impairment": "HP:0000365", + "Deafness": "HP:0000365", + "Hearing defect": "HP:0000365", + "Hypacusis": "HP:0000365", + "Hearing loss": "HP:0000365", + "Hypoacusis": "HP:0000365", + "Abnormality of the nose": "HP:0000366", + "Anomaly of the nose": "HP:0000366", + "Nasal abnormality": "HP:0000366", + "Nasal anomaly": "HP:0000366", + "Deformity of the nose": "HP:0000366", + "Malformation of the nose": "HP:0000366", + "Nasal deformity": "HP:0000366", + "Nasal malformation": "HP:0000366", + "obsolete Low-set, posteriorly rotated ears": "HP:0000368", + "Low-set ears": "HP:0000369", + "Low set ears": "HP:0000369", + "Low-set pinnae": "HP:0000369", + "Lowset ears": "HP:0000369", + "Melotia": "HP:0000369", + "Abnormality of the middle ear": "HP:0000370", + "Middle ear abnormalities": "HP:0000370", + "Middle ear abnormality": "HP:0000370", + "Acute otitis media": "HP:0000371", + "Acute middle ear infection": "HP:0000371", + "Abnormal auditory canal morphology": "HP:0000372", + "Abnormality of the auditory canal": "HP:0000372", + "Auditory canal abnormality": "HP:0000372", + "Abnormal cochlea morphology": "HP:0000375", + "Abnormality of cochlea": "HP:0000375", + "Incomplete partition of the cochlea type II": "HP:0000376", + "Cochlear malformation defect (Mondini dysplasia)": "HP:0000376", + "Mondini defect": "HP:0000376", + "Mondini dysplasia": "HP:0000376", + "Mondini malformation": "HP:0000376", + "Abnormal pinna morphology": "HP:0000377", + "Abnormal form of ears": "HP:0000377", + "Abnormally shaped ears": "HP:0000377", + "Auricular malformation": "HP:0000377", + "Deformed auricles": "HP:0000377", + "Deformed ears": "HP:0000377", + "Dysplastic ears": "HP:0000377", + "Malformation of auricle": "HP:0000377", + "Malformed auricles": "HP:0000377", + "Malformed ears": "HP:0000377", + "Malformed external ears": "HP:0000377", + "Minor malformation of the auricles": "HP:0000377", + "Poorly defined conchae": "HP:0000377", + "Cupped ear": "HP:0000378", + "Cup-shaped ears": "HP:0000378", + "Simple, cup-shaped ears": "HP:0000378", + "Capuchin ears": "HP:0000378", + "Cupped ears": "HP:0000378", + "Stapes ankylosis": "HP:0000381", + "Stapes fixation": "HP:0000381", + "Abnormal periauricular region morphology": "HP:0000383", + "Abnormality of periauricular region": "HP:0000383", + "Abnormality of the region around the ear": "HP:0000383", + "Anomaly of the periauricular region": "HP:0000383", + "Deformity of the periauricular region": "HP:0000383", + "Malformation of the periauricular region": "HP:0000383", + "Preauricular skin tag": "HP:0000384", + "Skin tag in front of the ear": "HP:0000384", + "Skin tag on the posterior cheek": "HP:0000384", + "Ear tag": "HP:0000384", + "Periauricular skin tag": "HP:0000384", + "Preauricular acrochordon": "HP:0000384", + "Preauricular fibroepithelial polyp": "HP:0000384", + "Preauricular skin tags": "HP:0000384", + "Preauricular tag": "HP:0000384", + "Preauricular tags": "HP:0000384", + "Small earlobe": "HP:0000385", + "Hypoplastic earlobes": "HP:0000385", + "Hypoplastic lobules": "HP:0000385", + "Small earlobes": "HP:0000385", + "Absent earlobe": "HP:0000387", + "Absent ear lobes": "HP:0000387", + "Earlobe, absent": "HP:0000387", + "Lobeless ears": "HP:0000387", + "Lobule aplasia": "HP:0000387", + "Otitis media": "HP:0000388", + "Middle ear infection": "HP:0000388", + "Chronic otitis media": "HP:0000389", + "Chronic infections of the middle ear": "HP:0000389", + "Otitis media, chronic": "HP:0000389", + "Chronic ear infection": "HP:0000389", + "Chronic middle ear infection": "HP:0000389", + "Thickened helices": "HP:0000391", + "Thick helix": "HP:0000391", + "Lop ear": "HP:0000394", + "Prominent antihelix": "HP:0000395", + "Overfolded helix": "HP:0000396", + "Over-folded helices": "HP:0000396", + "Overfolded ears": "HP:0000396", + "Overfolded helices": "HP:0000396", + "Prelingual sensorineural hearing impairment": "HP:0000399", + "Deafness, sensorineural, prelingual": "HP:0000399", + "Prelingual sensorineural deafness": "HP:0000399", + "Macrotia": "HP:0000400", + "Large ears": "HP:0000400", + "Large pinnae": "HP:0000400", + "Stenosis of the external auditory canal": "HP:0000402", + "Narrow ear canal": "HP:0000402", + "External auditory canal stenosis": "HP:0000402", + "Narrow auditory canals": "HP:0000402", + "Narrow external auditory canals": "HP:0000402", + "Narrow external auditory meatus": "HP:0000402", + "Narrowing of passageway from outer ear to middle ear": "HP:0000402", + "Stenotic external auditory canal": "HP:0000402", + "Recurrent otitis media": "HP:0000403", + "Frequent otitis media": "HP:0000403", + "Multiple episodes of otitis media": "HP:0000403", + "Otitis media, recurrent": "HP:0000403", + "Recurrent episodes of otitis media": "HP:0000403", + "Recurrent middle ear infection": "HP:0000403", + "Susceptibility to otitis media": "HP:0000403", + "Conductive hearing impairment": "HP:0000405", + "Conduction deafness": "HP:0000405", + "Conductive deafness": "HP:0000405", + "Conductive hearing loss": "HP:0000405", + "Hearing loss, conductive": "HP:0000405", + "Sensorineural hearing impairment": "HP:0000407", + "Hearing loss, sensorineural": "HP:0000407", + "Sensorineural deafness": "HP:0000407", + "Sensorineural hearing loss": "HP:0000407", + "Progressive sensorineural hearing impairment": "HP:0000408", + "Bilateral progressive sensorineural hearing loss": "HP:0000408", + "Hearing loss, progressive sensorineural": "HP:0000408", + "Hearing loss, sensorineural, bilateral, progressive": "HP:0000408", + "Hearing loss, sensorineural, progressive": "HP:0000408", + "Progressive bilateral sensorineural hearing loss": "HP:0000408", + "Sensorineural hearing loss, progressive": "HP:0000408", + "Mixed hearing impairment": "HP:0000410", + "Hearing loss, mixed": "HP:0000410", + "Mixed hearing loss": "HP:0000410", + "Protruding ear": "HP:0000411", + "Prominent ear": "HP:0000411", + "Prominent ears": "HP:0000411", + "Protruding ears": "HP:0000411", + "Atresia of the external auditory canal": "HP:0000413", + "Absent auditory canals": "HP:0000413", + "Absent ear canal": "HP:0000413", + "Absent external auditory canals": "HP:0000413", + "Atretic auditory canal": "HP:0000413", + "Atretic auditory canals": "HP:0000413", + "Atretic external auditory canal": "HP:0000413", + "Atretic external auditory canals": "HP:0000413", + "Auditory canal atresia": "HP:0000413", + "External acoustic meatus atresia": "HP:0000413", + "External auditory canal atresia": "HP:0000413", + "External auditory meatal atresia": "HP:0000413", + "External auditory meatus atresia": "HP:0000413", + "Atresia of the external auditory canals": "HP:0000413", + "Bulbous nose": "HP:0000414", + "Bulbous nasal tip": "HP:0000414", + "Potato nose": "HP:0000414", + "Abnormal choanae morphology": "HP:0000415", + "Abnormality of the choanae": "HP:0000415", + "Slender nose": "HP:0000417", + "Narrow nasal ridge": "HP:0000418", + "Decreased width of dorsum of nose": "HP:0000418", + "Decreased width of nasal dorsum": "HP:0000418", + "Decreased width of nasal ridge": "HP:0000418", + "Narrow dorsum of nose": "HP:0000418", + "Narrow nasal dorsum": "HP:0000418", + "Pinched nose": "HP:0000418", + "Thin dorsum of nose": "HP:0000418", + "Thin nasal dorsum": "HP:0000418", + "Thin nasal ridge": "HP:0000418", + "Abnormal nasal septum morphology": "HP:0000419", + "Abnormality of septum of nose": "HP:0000419", + "Abnormality of the nasal septum": "HP:0000419", + "Anomaly of nasal septum": "HP:0000419", + "Anomaly of septum of nose": "HP:0000419", + "Short nasal septum": "HP:0000420", + "Decreased length of nasal septum": "HP:0000420", + "Decreased length of septum of nose": "HP:0000420", + "Short septum of nose": "HP:0000420", + "Epistaxis": "HP:0000421", + "Bloody nose": "HP:0000421", + "Frequent nosebleeds": "HP:0000421", + "Nasal haemorrhage": "HP:0000421", + "Nasal hemorrhage": "HP:0000421", + "Nose bleed": "HP:0000421", + "Nose bleeding": "HP:0000421", + "Nosebleed": "HP:0000421", + "Abnormal nasal bridge morphology": "HP:0000422", + "Abnormality of the bridge of the nose": "HP:0000422", + "Abnormality of the nasal bridge": "HP:0000422", + "Abnormality of the nasal root": "HP:0000422", + "Deformity of the bridge of the nose": "HP:0000422", + "Deformity of the nasal bridge": "HP:0000422", + "Malformation of the bridge of the nose": "HP:0000422", + "Malformation of the nasal bridge": "HP:0000422", + "Prominent nasal bridge": "HP:0000426", + "Elevated nasal bridge": "HP:0000426", + "High nasal bridge": "HP:0000426", + "Prominent bridge of nose": "HP:0000426", + "Prominent nasal root": "HP:0000426", + "Protruding bridge of nose": "HP:0000426", + "Protruding nasal bridge": "HP:0000426", + "Convex bridge of nose": "HP:0000426", + "Convex nasal bridge": "HP:0000426", + "Abnormal morphology of the nasal alae": "HP:0000429", + "Abnormality of the nasal ala": "HP:0000429", + "Abnormality of the nasal alae": "HP:0000429", + "Abnormality of the nasal alar cartilage": "HP:0000429", + "Deformity of the nasal ala": "HP:0000429", + "Deformity of the nasal alar cartilage": "HP:0000429", + "Malformation of the nasal ala": "HP:0000429", + "Malformation of the nasal alar cartilage": "HP:0000429", + "Underdeveloped nasal alae": "HP:0000430", + "Ala nasi, underdeveloped": "HP:0000430", + "Alar cartilage hypoplasia": "HP:0000430", + "Decreased size of nasal alae": "HP:0000430", + "Hypoplastic alae nasae": "HP:0000430", + "Hypoplastic alae nasi": "HP:0000430", + "Hypoplastic alar cartilage": "HP:0000430", + "Hypoplastic alar nasae": "HP:0000430", + "Hypoplastic nares": "HP:0000430", + "Hypoplastic nasal alae": "HP:0000430", + "Hypoplastic nasal wings": "HP:0000430", + "Hypoplastic nostrils": "HP:0000430", + "Nasal cartilage hypoplasia": "HP:0000430", + "Small nasal alae": "HP:0000430", + "Thin hypoplastic alae nasi": "HP:0000430", + "Underdeveloped tissue around nostril": "HP:0000430", + "Wide nasal bridge": "HP:0000431", + "Broad nasal bridge": "HP:0000431", + "Broad nasal root": "HP:0000431", + "Broadened nasal bridge": "HP:0000431", + "Increased breadth of bridge of nose": "HP:0000431", + "Increased breadth of nasal bridge": "HP:0000431", + "Increased width of bridge of nose": "HP:0000431", + "Increased width of nasal bridge": "HP:0000431", + "Nasal bridge broad": "HP:0000431", + "Nasal bridge, wide": "HP:0000431", + "Wide bridge of nose": "HP:0000431", + "Widened nasal bridge": "HP:0000431", + "Broad flat nasal bridge": "HP:0000431", + "Abnormal nasal mucosa morphology": "HP:0000433", + "Abnormality of mucosa of nose": "HP:0000433", + "Abnormality of mucous membrane of nose": "HP:0000433", + "Abnormality of nasal mucous membrane": "HP:0000433", + "Abnormality of the nasal mucosa": "HP:0000433", + "Nasal mucosa telangiectasia": "HP:0000434", + "Angioectasia of mucosa of nose": "HP:0000434", + "Angioectasia of mucous membrane of nose": "HP:0000434", + "Angioectasia of nasal mucous membrane": "HP:0000434", + "Nasal mucous membrane telangiectasia": "HP:0000434", + "Spider veins of mucosa of nose": "HP:0000434", + "Spider veins of mucous membrane of nose": "HP:0000434", + "Spider veins of nasal mucous membrane": "HP:0000434", + "Telangiectasia of mucosa of nose": "HP:0000434", + "Telangiectasia of mucous membrane of nose": "HP:0000434", + "Telangiectasia of nasal mucous membrane": "HP:0000434", + "Abnormal nasal tip morphology": "HP:0000436", + "Abnormality of the nasal tip": "HP:0000436", + "Abnormality of tip of nose": "HP:0000436", + "Deformity of the nasal tip": "HP:0000436", + "Deformity of tip of nose": "HP:0000436", + "Malformation of the nasal tip": "HP:0000436", + "Malformation of tip of nose": "HP:0000436", + "Depressed nasal tip": "HP:0000437", + "Caved in nasal tip": "HP:0000437", + "Depressed tip of nose": "HP:0000437", + "Flat nasal tip": "HP:0000437", + "Flat tip of nose": "HP:0000437", + "Flattened nasal tip": "HP:0000437", + "Nasal tip, depressed": "HP:0000437", + "Nasal tip, recessed": "HP:0000437", + "Nasal tip, retruded": "HP:0000437", + "Retruded tip of nose": "HP:0000437", + "Convex nasal ridge": "HP:0000444", + "Beaked nose": "HP:0000444", + "Beaklike protrusion": "HP:0000444", + "Convex dorsum of nose": "HP:0000444", + "Convex nasal dorsum": "HP:0000444", + "Hooked nose": "HP:0000444", + "Polly beak nasal deformity": "HP:0000444", + "Wide nose": "HP:0000445", + "Broad nose": "HP:0000445", + "Increased breadth of nose": "HP:0000445", + "Increased nasal breadth": "HP:0000445", + "Increased nasal width": "HP:0000445", + "Increased width of nose": "HP:0000445", + "Narrow nasal bridge": "HP:0000446", + "Narrow bridge of nose": "HP:0000446", + "Narrow nasal root": "HP:0000446", + "Nasal Bridge, Narrow": "HP:0000446", + "Nasal bridge, thin": "HP:0000446", + "Pinched bridge of nose": "HP:0000446", + "Pinched nasal bridge": "HP:0000446", + "Pear-shaped nose": "HP:0000447", + "Prominent nose": "HP:0000448", + "Big nose": "HP:0000448", + "Disproportionately large nose": "HP:0000448", + "Increased nasal size": "HP:0000448", + "Increased size of nose": "HP:0000448", + "Large nose": "HP:0000448", + "Pronounced nose": "HP:0000448", + "Hyperplasia of nose": "HP:0000448", + "Hypertrophy of nose": "HP:0000448", + "Nasal hyperplasia": "HP:0000448", + "Nasal hypertrophy": "HP:0000448", + "Triangular nasal tip": "HP:0000451", + "Triangular shaped tip of nose": "HP:0000451", + "Choanal stenosis": "HP:0000452", + "Coanal stenosis": "HP:0000452", + "Narrowing of the rear opening of the nasal cavity": "HP:0000452", + "Choanal atresia": "HP:0000453", + "Blockage of the rear opening of the nasal cavity": "HP:0000453", + "Flared nostrils": "HP:0000454", + "Flared nasal alae": "HP:0000454", + "Broad nasal tip": "HP:0000455", + "Broad tip of nose": "HP:0000455", + "Broad, upturned nose": "HP:0000455", + "Increased breadth of nasal tip": "HP:0000455", + "Increased breadth of tip of nose": "HP:0000455", + "Increased width of nasal tip": "HP:0000455", + "Increased width of tip of nose": "HP:0000455", + "Nasal tip, broad": "HP:0000455", + "Nasal tip, wide": "HP:0000455", + "Wide tip of nose": "HP:0000455", + "Broad upturned nose": "HP:0000455", + "Bifid nasal tip": "HP:0000456", + "Bifid tip of nose": "HP:0000456", + "Cleft nasal tip": "HP:0000456", + "Cleft tip of nose": "HP:0000456", + "Notched nasal tip": "HP:0000456", + "Notched tip of nose": "HP:0000456", + "Depressed nasal ridge": "HP:0000457", + "Depressed dorsum of nose": "HP:0000457", + "Depressed nasal dorsum": "HP:0000457", + "Flat dorsum of nose": "HP:0000457", + "Flat nasal dorsum": "HP:0000457", + "Flat nose": "HP:0000457", + "Recessed dorsum of nose": "HP:0000457", + "Recessed nasal dorsum": "HP:0000457", + "Recessed nasal ridge": "HP:0000457", + "Retruded dorsum of nose": "HP:0000457", + "Retruded nasal dorsum": "HP:0000457", + "Retruded nasal ridge": "HP:0000457", + "Anosmia": "HP:0000458", + "Loss of smell": "HP:0000458", + "Lost smell": "HP:0000458", + "Narrow nose": "HP:0000460", + "Decreased nasal breadth": "HP:0000460", + "Decreased nasal width": "HP:0000460", + "Thin nose": "HP:0000460", + "Anteverted nares": "HP:0000463", + "Anteverted nose": "HP:0000463", + "Anteverted nostrils": "HP:0000463", + "Nasal tip, upturned": "HP:0000463", + "Nostrils anteverted": "HP:0000463", + "Upturned nares": "HP:0000463", + "Upturned nasal tip": "HP:0000463", + "Upturned nose": "HP:0000463", + "Upturned nostrils": "HP:0000463", + "Upturned nasal tips": "HP:0000463", + "Abnormality of the neck": "HP:0000464", + "Anomaly of the neck": "HP:0000464", + "Deformity of the neck": "HP:0000464", + "Malformation of the neck": "HP:0000464", + "Webbed neck": "HP:0000465", + "Neck webbing": "HP:0000465", + "Pterygium colli": "HP:0000465", + "Limited neck range of motion": "HP:0000466", + "Limited cervical range of motion": "HP:0000466", + "Neck muscle weakness": "HP:0000467", + "Floppy neck": "HP:0000467", + "Flaccid neck": "HP:0000467", + "Increased adipose tissue around the neck": "HP:0000468", + "Increased fat around the neck": "HP:0000468", + "Short neck": "HP:0000470", + "Cervical shortening": "HP:0000470", + "Decreased cervical height": "HP:0000470", + "Decreased cervical length": "HP:0000470", + "Decreased length of neck": "HP:0000470", + "Gastrointestinal angiodysplasia": "HP:0000471", + "GI angiodysplasia": "HP:0000471", + "Long neck": "HP:0000472", + "Cervical elongation": "HP:0000472", + "Elongated neck": "HP:0000472", + "Increased cervical length": "HP:0000472", + "Increased length of neck": "HP:0000472", + "Torticollis": "HP:0000473", + "Cervical dystonia": "HP:0000473", + "Loxia": "HP:0000473", + "Spasmodic torticollis": "HP:0000473", + "Wry neck": "HP:0000473", + "Thickened nuchal skin fold": "HP:0000474", + "Excess nuchal skin": "HP:0000474", + "Increased nuchal fold": "HP:0000474", + "Increased nuchal fold thickness": "HP:0000474", + "Thick nuchal fold": "HP:0000474", + "Thickened nuchal skin": "HP:0000474", + "Thickened skin folds of neck": "HP:0000474", + "Thickened skin over the neck": "HP:0000474", + "Broad neck": "HP:0000475", + "Increased width of neck": "HP:0000475", + "Wide neck": "HP:0000475", + "Thick neck": "HP:0000475", + "Cystic hygroma": "HP:0000476", + "Cystic hygroma of the neck": "HP:0000476", + "Abnormality of the eye": "HP:0000478", + "Abnormal eye": "HP:0000478", + "Eye disease": "HP:0000478", + "Abnormal retinal morphology": "HP:0000479", + "Abnormal retina": "HP:0000479", + "Abnormality of the retina": "HP:0000479", + "Anomaly of the retina": "HP:0000479", + "Retina issue": "HP:0000479", + "Retinal disease": "HP:0000479", + "Retinal coloboma": "HP:0000480", + "Hole in the back of the eye": "HP:0000480", + "Abnormal cornea morphology": "HP:0000481", + "Abnormality of the cornea": "HP:0000481", + "Corneal abnormalities": "HP:0000481", + "Corneal abnormality": "HP:0000481", + "Cornela disease": "HP:0000481", + "Microcornea": "HP:0000482", + "Cornea of eye less than 10mm in diameter": "HP:0000482", + "Decreased corneal diameter": "HP:0000482", + "Astigmatism": "HP:0000483", + "Abnormal curving of the cornea or lens of the eye": "HP:0000483", + "Hyperopic astigmatism": "HP:0000484", + "Megalocornea": "HP:0000485", + "Anterior megalophthalmos": "HP:0000485", + "Enlarged cornea": "HP:0000485", + "Increased corneal diameter": "HP:0000485", + "Macrocornea": "HP:0000485", + "Strabismus": "HP:0000486", + "Cross-eyed": "HP:0000486", + "Squint": "HP:0000486", + "Squint eyes": "HP:0000486", + "obsolete Congenital strabismus": "HP:0000487", + "Retinopathy": "HP:0000488", + "Noninflammatory retina disease": "HP:0000488", + "obsolete Abnormality of globe location or size": "HP:0000489", + "Deeply set eye": "HP:0000490", + "Deep set eye": "HP:0000490", + "Deep-set eyes": "HP:0000490", + "Enophthalmos": "HP:0000490", + "Ocular depression": "HP:0000490", + "Sunken eye": "HP:0000490", + "Sunken eyes": "HP:0000490", + "Keratitis": "HP:0000491", + "Corneal inflammation": "HP:0000491", + "Abnormal eyelid morphology": "HP:0000492", + "Abnormality of the eyelid": "HP:0000492", + "Abnormality of the eyelids": "HP:0000492", + "Abnormal foveal morphology": "HP:0000493", + "Abnormality of the fovea": "HP:0000493", + "Downslanted palpebral fissures": "HP:0000494", + "Antimongoloid eye slant": "HP:0000494", + "Antimongoloid slant of palpebral fissures": "HP:0000494", + "Antimongoloid slanted palpebral fissures": "HP:0000494", + "Down slanting palpebral fissures": "HP:0000494", + "Down-slanted palpebral fissures": "HP:0000494", + "Down-slanting palpebral fissure": "HP:0000494", + "Down-slanting palpebral fissures": "HP:0000494", + "Downslanting palpebral fissure": "HP:0000494", + "Downslanting palpebral fissures": "HP:0000494", + "Downward slanted palpebral fissures": "HP:0000494", + "Downward slanting of the opening between the eyelids": "HP:0000494", + "Downward slanting palpebral fissures": "HP:0000494", + "Downward-slanting palpebral fissures": "HP:0000494", + "Palpebral fissures down-slanted": "HP:0000494", + "Recurrent corneal erosions": "HP:0000495", + "Corneal erosions, recurrent": "HP:0000495", + "Recurrent breakdown of clear protective layer of eye": "HP:0000495", + "Recurrent corneal ulceration": "HP:0000495", + "Epithelial corneal erosions": "HP:0000495", + "Recurrent corneal ulcerations": "HP:0000495", + "Abnormality of eye movement": "HP:0000496", + "Abnormal extraocular movement": "HP:0000496", + "Abnormal extraocular movements": "HP:0000496", + "Abnormal eye motility": "HP:0000496", + "Abnormal eye movement": "HP:0000496", + "Abnormal eye movements": "HP:0000496", + "Abnormal motility of the globe of the eye": "HP:0000496", + "Abnormal movement of the globe of the eye": "HP:0000496", + "Abnormal ocular movements": "HP:0000496", + "Eye movement abnormalities": "HP:0000496", + "Eye movement issue": "HP:0000496", + "Ocular movement abnormalities": "HP:0000496", + "Oculomotor abnormalities": "HP:0000496", + "Globe retraction and deviation on abduction": "HP:0000497", + "Blepharitis": "HP:0000498", + "Cellulitis of eyelids": "HP:0000498", + "Inflammation of eyelids": "HP:0000498", + "Abnormal eyelash morphology": "HP:0000499", + "Abnormal eyelashes": "HP:0000499", + "Abnormality of the eyelashes": "HP:0000499", + "Eyelash abnormality": "HP:0000499", + "Glaucoma": "HP:0000501", + "Abnormal conjunctiva morphology": "HP:0000502", + "Tortuosity of conjunctival vessels": "HP:0000503", + "Abnormality of vision": "HP:0000504", + "Abnormality of sight": "HP:0000504", + "Vision issue": "HP:0000504", + "Visual impairment": "HP:0000505", + "Impaired vision": "HP:0000505", + "Loss of eyesight": "HP:0000505", + "Poor vision": "HP:0000505", + "Telecanthus": "HP:0000506", + "Corners of eye widely separated": "HP:0000506", + "Dystopia canthorum": "HP:0000506", + "Increased distance between medial canthi": "HP:0000506", + "Increased intercanthal distance": "HP:0000506", + "Ptosis": "HP:0000508", + "Blepharoptosis": "HP:0000508", + "Drooping upper eyelid": "HP:0000508", + "Eyelid ptosis": "HP:0000508", + "Palpebral ptosis": "HP:0000508", + "Eye drop": "HP:0000508", + "Conjunctivitis": "HP:0000509", + "Pink eye": "HP:0000509", + "Conjunctivitis, recurrent": "HP:0000509", + "Rod-cone dystrophy": "HP:0000510", + "Retinitis pigmentosa": "HP:0000510", + "Rod cone dystrophy": "HP:0000510", + "Vertical supranuclear gaze palsy": "HP:0000511", + "VSGP": "HP:0000511", + "Vertical gaze palsy": "HP:0000511", + "Abnormal electroretinogram": "HP:0000512", + "Abnormal ERG": "HP:0000512", + "Abnormal electroretinography": "HP:0000512", + "ERG abnormal": "HP:0000512", + "Slow saccadic eye movements": "HP:0000514", + "Slow eye movements": "HP:0000514", + "Slow saccades": "HP:0000514", + "Slow visual tracking": "HP:0000514", + "Abnormal lens morphology": "HP:0000517", + "Abnormality of the lens": "HP:0000517", + "Lens issue": "HP:0000517", + "Lens disease": "HP:0000517", + "Cataract": "HP:0000518", + "Cataracts": "HP:0000518", + "Clouding of the lens of the eye": "HP:0000518", + "Cloudy lens": "HP:0000518", + "Lens opacities": "HP:0000518", + "Lens opacity": "HP:0000518", + "Developmental cataract": "HP:0000519", + "Bilateral congenital cataracts": "HP:0000519", + "Cataract, congenital": "HP:0000519", + "Clouding of the lens of the eye at birth": "HP:0000519", + "Congenital cataract": "HP:0000519", + "Congenital cataracts": "HP:0000519", + "Congenital cataracts, bilateral": "HP:0000519", + "Proptosis": "HP:0000520", + "Anterior bulging of the globe": "HP:0000520", + "Anterior bulging of the globe of eye": "HP:0000520", + "Bulging eye": "HP:0000520", + "Exophthalmos": "HP:0000520", + "Eyeballs bulging out": "HP:0000520", + "Ocular proptosis": "HP:0000520", + "Prominent eyes": "HP:0000520", + "Prominent globes": "HP:0000520", + "Protruding eyes": "HP:0000520", + "Protrusio bulbi": "HP:0000520", + "Alacrima": "HP:0000522", + "Absence of tears in the eyes": "HP:0000522", + "Absent lacrimal fluids": "HP:0000522", + "Absent tear secretion": "HP:0000522", + "Subcapsular cataract": "HP:0000523", + "Subcapsular cataracts": "HP:0000523", + "Subcapsular lenticular cataracts": "HP:0000523", + "Subcapsular opacities": "HP:0000523", + "Conjunctival telangiectasia": "HP:0000524", + "Conjunctival telangiectases": "HP:0000524", + "Small dilated blood vessels near membrane covering front of eye and eyelids": "HP:0000524", + "Telangiectasia, conjunctival": "HP:0000524", + "Abnormality iris morphology": "HP:0000525", + "Abnormality of the iris": "HP:0000525", + "Aniridia": "HP:0000526", + "Absent iris": "HP:0000526", + "Long eyelashes": "HP:0000527", + "Ciliary trichomegaly": "HP:0000527", + "Eyelash trichomegaly": "HP:0000527", + "Increased length of eyelashes": "HP:0000527", + "Unusually long eyelashes": "HP:0000527", + "Anophthalmia": "HP:0000528", + "Absence of eyeballs": "HP:0000528", + "Absence of globes of eyes": "HP:0000528", + "Anophthalmia, clinical": "HP:0000528", + "Clinical anophthalmia, unilateral/bilateral": "HP:0000528", + "Failure of development of eyeball": "HP:0000528", + "Missing eyeball": "HP:0000528", + "Missing globe of eye": "HP:0000528", + "No eyeball": "HP:0000528", + "No globe of eye": "HP:0000528", + "Ocular absence": "HP:0000528", + "Progressive visual loss": "HP:0000529", + "Loss of visual acuity": "HP:0000529", + "Progressive loss of vision": "HP:0000529", + "Progressive vision loss": "HP:0000529", + "Progressive visual acuity loss": "HP:0000529", + "Progressive visual impairment": "HP:0000529", + "Slowly progressive visual loss": "HP:0000529", + "Vision loss, progressive": "HP:0000529", + "Visual loss, progressive": "HP:0000529", + "Decreased visual acuity, progressive": "HP:0000529", + "Corneal crystals": "HP:0000531", + "Corneal deposits": "HP:0000531", + "Abnormal chorioretinal morphology": "HP:0000532", + "Chorioretinal abnormality": "HP:0000532", + "Chorioretinal atrophy": "HP:0000533", + "Chorioretinal thinning": "HP:0000533", + "Abnormal eyebrow morphology": "HP:0000534", + "Abnormality of the eyebrow": "HP:0000534", + "obsolete Sparse and thin eyebrow": "HP:0000535", + "Epicanthus inversus": "HP:0000537", + "Pseudopapilledema": "HP:0000538", + "Abnormality of refraction": "HP:0000539", + "Hypermetropia": "HP:0000540", + "Farsightedness": "HP:0000540", + "Hyperopia": "HP:0000540", + "Long-sightedness": "HP:0000540", + "Retinal detachment": "HP:0000541", + "Detached retina": "HP:0000541", + "Impaired ocular adduction": "HP:0000542", + "Optic disc pallor": "HP:0000543", + "Pale optic disc": "HP:0000543", + "Disc pallor": "HP:0000543", + "Pale optic discs": "HP:0000543", + "External ophthalmoplegia": "HP:0000544", + "CPEO": "HP:0000544", + "Chronic progressive external ophthalmoplegia": "HP:0000544", + "Ophthalmoplegia externa": "HP:0000544", + "Paralysis or weakness of muscles within or surrounding outer part of eye": "HP:0000544", + "Progressive paralysis or weakness of muscles of eye motility": "HP:0000544", + "Progressive paralysis or weakness of muscles of eye movement": "HP:0000544", + "Myopia": "HP:0000545", + "Close sighted": "HP:0000545", + "Near sighted": "HP:0000545", + "Near sightedness": "HP:0000545", + "Nearsightedness": "HP:0000545", + "Retinal degeneration": "HP:0000546", + "Retina degeneration": "HP:0000546", + "obsolete Tapetoretinal degeneration": "HP:0000547", + "Retinotapetal degeneration": "HP:0000547", + "Cone/cone-rod dystrophy": "HP:0000548", + "Cone rod dystrophy": "HP:0000548", + "Cone-rod retinal dystrophy": "HP:0000548", + "Abnormal conjugate eye movement": "HP:0000549", + "Disconjugate eye movements": "HP:0000549", + "Undetectable electroretinogram": "HP:0000550", + "Abolished electroretinogram": "HP:0000550", + "Absent electroretinogram": "HP:0000550", + "Extinction of electroretinogram": "HP:0000550", + "Extinguished electroretinogram": "HP:0000550", + "No light-evoked response on electroretinogram": "HP:0000550", + "Undetectable ERG": "HP:0000550", + "Color vision defect": "HP:0000551", + "Abnormal color vision": "HP:0000551", + "Abnormal colour vision": "HP:0000551", + "Abnormality of color vision": "HP:0000551", + "Abnormality of colour vision": "HP:0000551", + "Colour vision defect": "HP:0000551", + "Disturbed color vision": "HP:0000551", + "Disturbed colour vision": "HP:0000551", + "Color vision defect, severe": "HP:0000551", + "Color vision defects": "HP:0000551", + "Colour vision defect, severe": "HP:0000551", + "Colour vision defects": "HP:0000551", + "Loss in color vision": "HP:0000551", + "Loss in colour vision": "HP:0000551", + "Tritanomaly": "HP:0000552", + "Blue yellow color blindness": "HP:0000552", + "Blue yellow colour blindness": "HP:0000552", + "Blue-yellow dyschromatopsia": "HP:0000552", + "Dyschromatopsia, blue-yellow": "HP:0000552", + "Blue/yellow color vision defect": "HP:0000552", + "Blue/yellow colour vision defect": "HP:0000552", + "Abnormal uvea morphology": "HP:0000553", + "Abnormality of the uvea": "HP:0000553", + "Uveitis": "HP:0000554", + "Leukocoria": "HP:0000555", + "Leukokoria": "HP:0000555", + "White pupillary reflex": "HP:0000555", + "Retinal dystrophy": "HP:0000556", + "Breakdown of light-sensitive cells in back of eye": "HP:0000556", + "Buphthalmos": "HP:0000557", + "Enlarged eyeball": "HP:0000557", + "Rieger anomaly": "HP:0000558", + "Corneal scarring": "HP:0000559", + "Absent eyelashes": "HP:0000561", + "Atrichia of eyelashes": "HP:0000561", + "Failure of development of eyelashes": "HP:0000561", + "Agenesis of eyelashes": "HP:0000561", + "Aplasia of eyelashes": "HP:0000561", + "Keratoconus": "HP:0000563", + "Bulging cornea": "HP:0000563", + "Conical cornea": "HP:0000563", + "Lacrimal duct atresia": "HP:0000564", + "Imperforate nasolacrimal ducts": "HP:0000564", + "Nasolacrimal duct atresia": "HP:0000564", + "Unopened tear duct": "HP:0000564", + "Esotropia": "HP:0000565", + "Inward turning cross eyed": "HP:0000565", + "Chorioretinal coloboma": "HP:0000567", + "Birth defect that causes a hole in the innermost layer at the back of the eye": "HP:0000567", + "Choroidoretinal coloboma": "HP:0000567", + "Choroid coloboma": "HP:0000567", + "Choroidal coloboma": "HP:0000567", + "Coloboma of choroid": "HP:0000567", + "Microphthalmia": "HP:0000568", + "Decreased size of eyeball": "HP:0000568", + "Decreased size of globe of eye": "HP:0000568", + "Abnormally small eyeball": "HP:0000568", + "Abnormally small globe of eye": "HP:0000568", + "Microphthalmos": "HP:0000568", + "Nanophthalmos": "HP:0000568", + "Abnormal saccadic eye movements": "HP:0000570", + "Abnormality of saccadic eye movements": "HP:0000570", + "Impaired saccades": "HP:0000570", + "Hypometric saccades": "HP:0000571", + "Visual loss": "HP:0000572", + "Loss of vision": "HP:0000572", + "Vision loss": "HP:0000572", + "Retinal hemorrhage": "HP:0000573", + "Retinal bleeding": "HP:0000573", + "Retinal haemorrhage": "HP:0000573", + "Retinal haemorrhages": "HP:0000573", + "Retinal hemorrhages": "HP:0000573", + "Thick eyebrow": "HP:0000574", + "Bushy eyebrows": "HP:0000574", + "Dense eyebrow": "HP:0000574", + "Heavy eyebrows": "HP:0000574", + "Hypertrichosis of the eyebrow": "HP:0000574", + "Prominent eyebrows": "HP:0000574", + "Thick eyebrows": "HP:0000574", + "Hypertrichosis of the eyebrows": "HP:0000574", + "Scotoma": "HP:0000575", + "Blind spot": "HP:0000575", + "Centrocecal scotoma": "HP:0000576", + "Exotropia": "HP:0000577", + "Outward facing eye ball": "HP:0000577", + "Nasolacrimal duct obstruction": "HP:0000579", + "Blocked tear duct": "HP:0000579", + "Lacrimal duct obstruction": "HP:0000579", + "Pigmentary retinopathy": "HP:0000580", + "Pigmentary retinal deposits": "HP:0000580", + "Retinal pigment clumping": "HP:0000580", + "Retinal pigmentary clumping": "HP:0000580", + "Retinal pigmentary degeneration": "HP:0000580", + "Blepharophimosis": "HP:0000581", + "Decreased width of palpebral fissure": "HP:0000581", + "Narrow opening between the eyelids": "HP:0000581", + "Upslanted palpebral fissure": "HP:0000582", + "Mongoloid slant": "HP:0000582", + "Upslanting palpebral fissures": "HP:0000582", + "Upward slanted palpebral fissures": "HP:0000582", + "Upward slanting of palpebral fissures": "HP:0000582", + "Upward slanting of the opening between the eyelids": "HP:0000582", + "Upward slanting palpebral fissures": "HP:0000582", + "Upslanted palpebral fissures": "HP:0000582", + "Punctate corneal epithelial erosions": "HP:0000584", + "Band keratopathy": "HP:0000585", + "Calcific band keratopathy": "HP:0000585", + "Shallow orbits": "HP:0000586", + "Decreased depth of eye sockets": "HP:0000586", + "Decreased depth of orbits": "HP:0000586", + "Shallow eye sockets": "HP:0000586", + "Small shallow orbits": "HP:0000586", + "Abnormal optic nerve morphology": "HP:0000587", + "Abnormality of the optic nerve": "HP:0000587", + "Optic nerve issue": "HP:0000587", + "optic nerve abnormalities": "HP:0000587", + "Optic disc coloboma": "HP:0000588", + "Coloboma of optic nerve": "HP:0000588", + "Optic nerve coloboma": "HP:0000588", + "Coloboma": "HP:0000589", + "Notched pupil": "HP:0000589", + "Ocular coloboma": "HP:0000589", + "Ocular colobomas": "HP:0000589", + "Progressive external ophthalmoplegia": "HP:0000590", + "External ophthalmoplegia, progressive": "HP:0000590", + "Abnormal sclera morphology": "HP:0000591", + "Abnormality of the outer white part of eyeball": "HP:0000591", + "Abnormality of the sclera": "HP:0000591", + "Blue sclerae": "HP:0000592", + "Blue outer white part of eyeball": "HP:0000592", + "Blue sclera": "HP:0000592", + "Bluish sclerae": "HP:0000592", + "Gray sclerae": "HP:0000592", + "Grey sclerae": "HP:0000592", + "Whites of eyes are a bluish-gray color": "HP:0000592", + "Whites of eyes are a bluish-gray colour": "HP:0000592", + "Abnormal anterior chamber morphology": "HP:0000593", + "Abnormality of the anterior chamber": "HP:0000593", + "Anterior chamber anomalies": "HP:0000593", + "Ocular anterior chamber abnormality": "HP:0000593", + "Shallow anterior chamber": "HP:0000594", + "Ophthalmoparesis": "HP:0000597", + "Extraocular muscle palsy": "HP:0000597", + "Extraocular muscle paralysis": "HP:0000597", + "Weakness of extraocular eye movement": "HP:0000597", + "Weakness of muscles controlling eye movement": "HP:0000597", + "Abnormality of the ear": "HP:0000598", + "Ear anomaly": "HP:0000598", + "Abnormality of the frontal hairline": "HP:0000599", + "Abnormality of hairline at front of head": "HP:0000599", + "Abnormality of the pharynx": "HP:0000600", + "Hypotelorism": "HP:0000601", + "Abnormally close eyes": "HP:0000601", + "Closely spaced eyes": "HP:0000601", + "Decreased distance between eye sockets": "HP:0000601", + "Decreased distance between eyes": "HP:0000601", + "Decreased interpupillary distance": "HP:0000601", + "Decreased orbital separation": "HP:0000601", + "Ocular hypotelorism": "HP:0000601", + "Ophthalmoplegia": "HP:0000602", + "Eye muscle paralysis": "HP:0000602", + "Paralysis of extraocular eye movement": "HP:0000602", + "Central scotoma": "HP:0000603", + "Blind spot located at fixation point": "HP:0000603", + "Central blind spot": "HP:0000603", + "Central scotomata": "HP:0000603", + "Supranuclear gaze palsy": "HP:0000605", + "Supranuclear gaze paralysis": "HP:0000605", + "Abnormality of the periorbital region": "HP:0000606", + "Abnormality of the region around the eye": "HP:0000606", + "Abnormality of the region around the eye socket": "HP:0000606", + "Anomaly of the periorbital region": "HP:0000606", + "Deformity of the periorbital region": "HP:0000606", + "Malformation of the periorbital region": "HP:0000606", + "Periorbital wrinkles": "HP:0000607", + "Excess periorbital skin wrinkling": "HP:0000607", + "Periorbital rhytids": "HP:0000607", + "Periorbital wrinkling": "HP:0000607", + "Wrinkles around the eyes": "HP:0000607", + "Macular degeneration": "HP:0000608", + "Pigmented macular degeneration": "HP:0000608", + "Optic nerve hypoplasia": "HP:0000609", + "Hypoplastic optic nerves": "HP:0000609", + "Underdeveloped optic nerves": "HP:0000609", + "Double ring sign": "HP:0000609", + "Abnormal choroid morphology": "HP:0000610", + "Abnormality of the choroid": "HP:0000610", + "Choroid disease": "HP:0000610", + "obsolete Choroid coloboma": "HP:0000611", + "Iris coloboma": "HP:0000612", + "Cat eye": "HP:0000612", + "Coloboma of iris": "HP:0000612", + "Coloboma of the iris": "HP:0000612", + "Keyhole iris": "HP:0000612", + "Photophobia": "HP:0000613", + "Extreme sensitivity of the eyes to light": "HP:0000613", + "Light hypersensitivity": "HP:0000613", + "Photodysphoria": "HP:0000613", + "Abnormal nasolacrimal system morphology": "HP:0000614", + "Abnormality of the nasolacrimal system": "HP:0000614", + "Abnormal pupil morphology": "HP:0000615", + "Abnormal pupillary morphology": "HP:0000615", + "Abnormality of the pupil": "HP:0000615", + "Pupillary abnormalities": "HP:0000615", + "Pupillary abnormality": "HP:0000615", + "Miosis": "HP:0000616", + "Constricted pupils": "HP:0000616", + "Pupillary constriction": "HP:0000616", + "Abnormality of ocular smooth pursuit": "HP:0000617", + "Abnormal smooth pursuits": "HP:0000617", + "Disrupted ocular pursuit movements": "HP:0000617", + "Impaired smooth pursuit ocular movements": "HP:0000617", + "Irregular visual pursuit movements": "HP:0000617", + "Blindness": "HP:0000618", + "Total vision loss": "HP:0000618", + "Legal blindness": "HP:0000618", + "Impaired convergence": "HP:0000619", + "Convergence insufficiency": "HP:0000619", + "Dacryocystitis": "HP:0000620", + "Dacrocystitis": "HP:0000620", + "Infection of the lacrimal sac": "HP:0000620", + "Entropion": "HP:0000621", + "Eyelid folded in": "HP:0000621", + "Eyelid turned in": "HP:0000621", + "Inverted eyelid": "HP:0000621", + "Blurred vision": "HP:0000622", + "Supranuclear ophthalmoplegia": "HP:0000623", + "Eyelid coloboma": "HP:0000625", + "Cleft eyelid": "HP:0000625", + "Full thickness defect of the eyelid": "HP:0000625", + "Notched eyelid": "HP:0000625", + "Posterior embryotoxon": "HP:0000627", + "Embryotoxon": "HP:0000627", + "Periorbital fullness": "HP:0000629", + "Periorbital puffiness": "HP:0000629", + "Periorbital swelling": "HP:0000629", + "Puffiness around eye": "HP:0000629", + "Puffy eyes": "HP:0000629", + "Swelling around the eyes": "HP:0000629", + "Fullness around the eyes": "HP:0000629", + "Abnormal retinal artery morphology": "HP:0000630", + "Abnormality of retinal arteries": "HP:0000630", + "Retinal arterial abnormality": "HP:0000630", + "Retinal arterial tortuosity": "HP:0000631", + "Retinal artery tortuousity": "HP:0000631", + "Lacrimation abnormality": "HP:0000632", + "Abnormality of tear production": "HP:0000632", + "Decreased lacrimation": "HP:0000633", + "Decreased tear secretion": "HP:0000633", + "Hypolacrimia": "HP:0000633", + "Impaired ocular abduction": "HP:0000634", + "Blue irides": "HP:0000635", + "Blue eyes": "HP:0000635", + "Upper eyelid coloboma": "HP:0000636", + "Cleft upper eyelid": "HP:0000636", + "Coloboma of the upper eyelid": "HP:0000636", + "Full thickness defect of the upper eyelid": "HP:0000636", + "Notched upper eyelid": "HP:0000636", + "Upper eyelid colobomas": "HP:0000636", + "Long palpebral fissure": "HP:0000637", + "Broad opening between the eyelids": "HP:0000637", + "Broad palpebral fissure": "HP:0000637", + "Long opening between the eyelids": "HP:0000637", + "Long palpebral fissures": "HP:0000637", + "Wide opening between the eyelids": "HP:0000637", + "Wide palpebral fissure": "HP:0000637", + "Wide palpebral fissures": "HP:0000637", + "Nystagmus": "HP:0000639", + "Involuntary, rapid, rhythmic eye movements": "HP:0000639", + "Gaze-evoked nystagmus": "HP:0000640", + "Dysmetric saccades": "HP:0000641", + "Dysmetric eye movements": "HP:0000641", + "Dysmetric eye saccades": "HP:0000641", + "Uncoordinated eye movement": "HP:0000641", + "Red-green dyschromatopsia": "HP:0000642", + "Dyschromatopsia with red-green confusion": "HP:0000642", + "Red green color blindness": "HP:0000642", + "Red green colour blindness": "HP:0000642", + "Red/green color vision defect": "HP:0000642", + "Red/green colour vision defect": "HP:0000642", + "Blepharospasm": "HP:0000643", + "Eyelid spasm": "HP:0000643", + "Eyelid twitching": "HP:0000643", + "Involuntary closure of eyelid": "HP:0000643", + "Spontaneous closure of eyelid": "HP:0000643", + "Amblyopia": "HP:0000646", + "Lazy eye": "HP:0000646", + "Wandering eye": "HP:0000646", + "Wandering eyes": "HP:0000646", + "Sclerocornea": "HP:0000647", + "Hardening of skin and connective tissue": "HP:0000647", + "Optic atrophy": "HP:0000648", + "Optic nerve atrophy": "HP:0000648", + "Optic-nerve degeneration": "HP:0000648", + "Abnormality of visual evoked potentials": "HP:0000649", + "Abnormal vision evoked potentials": "HP:0000649", + "Abnormal visual evoked potential": "HP:0000649", + "Abnormal visual evoked responses": "HP:0000649", + "Abnormal visual-evoked potentials": "HP:0000649", + "VEP abnormalities": "HP:0000649", + "Abnormal amplitude of pattern reversal visual evoked potentials": "HP:0000650", + "Diplopia": "HP:0000651", + "Double vision": "HP:0000651", + "Lower eyelid coloboma": "HP:0000652", + "Cleft lower eyelid": "HP:0000652", + "Coloboma of lower eyelid": "HP:0000652", + "Full thickness defect of the lower eyelid": "HP:0000652", + "Lower lid coloboma": "HP:0000652", + "Notched lower eyelid": "HP:0000652", + "Sparse eyelashes": "HP:0000653", + "Hypotrichosis of eyelashes": "HP:0000653", + "Partial absence of eyelashes": "HP:0000653", + "Scant eyelashes": "HP:0000653", + "Scanty eyelashes": "HP:0000653", + "Thin eyelashes": "HP:0000653", + "Decreased light- and dark-adapted electroretinogram amplitude": "HP:0000654", + "Decreased ERG amplitude": "HP:0000654", + "Decreased amplitudes on flash visual electroretinogram": "HP:0000654", + "Decreased electroretinogram": "HP:0000654", + "Decreased electroretinogram amplitude": "HP:0000654", + "Decreased electroretinogram response": "HP:0000654", + "Flattened or absent electroretinogram": "HP:0000654", + "Reduced ERG": "HP:0000654", + "Reduced electroretinogram": "HP:0000654", + "Reduced or abolished electroretinogram": "HP:0000654", + "obsolete Vitreoretinal degeneration": "HP:0000655", + "Ectropion": "HP:0000656", + "Eyelid folded out": "HP:0000656", + "Eyelid turned out": "HP:0000656", + "Everted eyelid": "HP:0000656", + "Oculomotor apraxia": "HP:0000657", + "Ocular motor apraxia": "HP:0000657", + "Defective or absent horizontal voluntary eye movements": "HP:0000657", + "Eyelid apraxia": "HP:0000658", + "Difficulty opening the eyelids": "HP:0000658", + "Peters anomaly": "HP:0000659", + "Lipemia retinalis": "HP:0000660", + "Palpebral fissure narrowing on adduction": "HP:0000661", + "Nyctalopia": "HP:0000662", + "Night blindness": "HP:0000662", + "Night-blindness": "HP:0000662", + "Poor night vision": "HP:0000662", + "Difficulties with night vision": "HP:0000662", + "Synophrys": "HP:0000664", + "Monobrow": "HP:0000664", + "Synophris": "HP:0000664", + "Unibrow": "HP:0000664", + "Horizontal nystagmus": "HP:0000666", + "Nystagmus, horizontal": "HP:0000666", + "Phthisis bulbi": "HP:0000667", + "Hypodontia": "HP:0000668", + "Failure of development of between one and six teeth": "HP:0000668", + "Missing between one and six teeth": "HP:0000668", + "Carious teeth": "HP:0000670", + "Caries": "HP:0000670", + "Cariosity of teeth": "HP:0000670", + "Dental caries": "HP:0000670", + "Dental cavities": "HP:0000670", + "Early dental caries": "HP:0000670", + "Frequent caries": "HP:0000670", + "Tooth cavities": "HP:0000670", + "Tooth decay": "HP:0000670", + "Dental decay": "HP:0000670", + "Rotting teeth": "HP:0000670", + "Anodontia": "HP:0000674", + "Anodontia vera": "HP:0000674", + "Complete agenesis of all teeth": "HP:0000674", + "Complete dental agenesis": "HP:0000674", + "Failure of development of all teeth": "HP:0000674", + "Complete anodontia": "HP:0000674", + "Total anodontia": "HP:0000674", + "Missing all teeth": "HP:0000674", + "Total absence of all teeth": "HP:0000674", + "Macrodontia of permanent maxillary central incisor": "HP:0000675", + "Hyperplasia of permanent maxillary central incisor": "HP:0000675", + "Hypertrophy of permanent maxillary central incisor": "HP:0000675", + "Increased size of permanent maxillary central incisor": "HP:0000675", + "Increased size of permanent upper central incisor": "HP:0000675", + "Large permanent maxillary central incisor": "HP:0000675", + "Large permanent upper central incisor": "HP:0000675", + "Increased width of permanent maxillary central incisor": "HP:0000675", + "Increased width of permanent upper central incisor": "HP:0000675", + "Long maxillary central incisors": "HP:0000675", + "Prominent upper incisors": "HP:0000675", + "Prominent, protruding upper incisors": "HP:0000675", + "Abnormality of the incisor": "HP:0000676", + "Oligodontia": "HP:0000677", + "Failure of development of more than six teeth": "HP:0000677", + "Partial anodontia": "HP:0000677", + "Missing more than six teeth": "HP:0000677", + "Number of teeth decreased by more than six": "HP:0000677", + "Dental crowding": "HP:0000678", + "Inadequate arch length for tooth size": "HP:0000678", + "Tooth mass arch size discrepancy": "HP:0000678", + "Tooth size discrepancy": "HP:0000678", + "Crowded teeth": "HP:0000678", + "Dental overcrowding": "HP:0000678", + "Overcrowding of teeth": "HP:0000678", + "Taurodontia": "HP:0000679", + "Taurodont": "HP:0000679", + "Taurodontism": "HP:0000679", + "Large elongated pulp chamber": "HP:0000679", + "Delayed eruption of primary teeth": "HP:0000680", + "Delayed eruption of baby teeth": "HP:0000680", + "Delayed eruption of deciduous teeth": "HP:0000680", + "Delayed eruption of milk teeth": "HP:0000680", + "Delayed primary teeth eruption": "HP:0000680", + "Late eruption of baby teeth": "HP:0000680", + "Late eruption of milk teeth": "HP:0000680", + "Late eruption of primary teeth": "HP:0000680", + "Abnormal dental enamel morphology": "HP:0000682", + "Abnormal tooth enamel": "HP:0000682", + "Abnormality of dental enamel": "HP:0000682", + "Enamel abnormalities": "HP:0000682", + "Enamel abnormality": "HP:0000682", + "Defective tooth enamel": "HP:0000682", + "Dystrophic tooth enamel": "HP:0000682", + "Malformation of dental enamel": "HP:0000682", + "Malformation of tooth enamel": "HP:0000682", + "Grayish enamel": "HP:0000683", + "Gray colored tooth enamel": "HP:0000683", + "Gray tooth shade": "HP:0000683", + "Grey coloured tooth enamel": "HP:0000683", + "Grey tooth shade": "HP:0000683", + "Greyish enamel": "HP:0000683", + "Delayed eruption of teeth": "HP:0000684", + "Delayed dental development": "HP:0000684", + "Delayed dental eruption": "HP:0000684", + "Delayed eruption": "HP:0000684", + "Delayed teeth eruption": "HP:0000684", + "Delayed tooth eruption": "HP:0000684", + "Eruption, delayed": "HP:0000684", + "Late eruption of teeth": "HP:0000684", + "Late tooth eruption": "HP:0000684", + "Hypoplasia of teeth": "HP:0000685", + "Decreased size of teeth": "HP:0000685", + "Underdevelopment of teeth": "HP:0000685", + "Hypoplastic teeth": "HP:0000685", + "Widely spaced teeth": "HP:0000687", + "Generalised dental spacing": "HP:0000687", + "Generalised spacing of teeth": "HP:0000687", + "Generalized dental spacing": "HP:0000687", + "Generalized spacing of teeth": "HP:0000687", + "Multiple diastemata": "HP:0000687", + "Wide-spaced teeth": "HP:0000687", + "Widely-spaced teeth": "HP:0000687", + "Dental malocclusion": "HP:0000689", + "Bad bite": "HP:0000689", + "Bilateral crossbite": "HP:0000689", + "Bilateral crossbite malocclusion": "HP:0000689", + "Incorrect relation between upper and lower dental arches": "HP:0000689", + "Malalignment of upper and lower dental arches": "HP:0000689", + "Malocclusion": "HP:0000689", + "Malocclusion of teeth": "HP:0000689", + "Misalignment of upper and lower dental arches": "HP:0000689", + "Occlusion anomaly": "HP:0000689", + "Angle class 2 malocclusion": "HP:0000689", + "Angle class 3 malocclusion": "HP:0000689", + "Agenesis of maxillary lateral incisor": "HP:0000690", + "Absent upper lateral incisors": "HP:0000690", + "Failure of development of maxillary lateral incisor": "HP:0000690", + "Absence of maxillary lateral incisor": "HP:0000690", + "Absence of upper lateral incisor": "HP:0000690", + "Missing maxillary lateral incisor": "HP:0000690", + "Missing upper lateral incisor": "HP:0000690", + "Microdontia": "HP:0000691", + "Hypotrophic tooth": "HP:0000691", + "Decreased size of tooth": "HP:0000691", + "Decreased width of tooth": "HP:0000691", + "Small teeth": "HP:0000691", + "Small tooth": "HP:0000691", + "Tooth hypoplasia": "HP:0000691", + "Tooth hypotrophy": "HP:0000691", + "Underdeveloped tooth": "HP:0000691", + "Tooth malposition": "HP:0000692", + "Abnormality of position of teeth": "HP:0000692", + "Abnormal dental position": "HP:0000692", + "Abnormal teeth spacing": "HP:0000692", + "Abnormality of alignment of teeth": "HP:0000692", + "Abnormality of teeth spacing": "HP:0000692", + "Crooked teeth": "HP:0000692", + "Malaligned teeth": "HP:0000692", + "Malposition of teeth": "HP:0000692", + "Malpositioned teeth": "HP:0000692", + "Misalignment of teeth": "HP:0000692", + "Teeth, malposition": "HP:0000692", + "Odontodysplasia": "HP:0000694", + "Ghost teeth": "HP:0000694", + "Shell teeth": "HP:0000694", + "Teeth with dentinal dysplasia": "HP:0000694", + "Teeth with thin dentin and large pulp chambers": "HP:0000694", + "Teeth with type iii dentinogenesis imperfecta": "HP:0000694", + "Natal tooth": "HP:0000695", + "Born with teeth": "HP:0000695", + "Natal teeth": "HP:0000695", + "Neonatal teeth": "HP:0000695", + "Teeth present at birth": "HP:0000695", + "Delayed eruption of permanent teeth": "HP:0000696", + "Delayed eruption of adult teeth": "HP:0000696", + "Delayed eruption of secondary dentition": "HP:0000696", + "Delayed eruption of secondary teeth": "HP:0000696", + "Delayed permanent dentition": "HP:0000696", + "Conical tooth": "HP:0000698", + "Cone shaped tooth": "HP:0000698", + "Conoid tooth": "HP:0000698", + "Peg shaped teeth": "HP:0000698", + "Peg tooth": "HP:0000698", + "Peg-shaped teeth": "HP:0000698", + "Shark tooth": "HP:0000698", + "Conical teeth": "HP:0000698", + "Peg shaped tooth": "HP:0000698", + "Pointed tooth": "HP:0000698", + "Diastema": "HP:0000699", + "Gaps between teeth": "HP:0000699", + "Dental diastasis": "HP:0000699", + "Dental diastema": "HP:0000699", + "Diastasis of the teeth": "HP:0000699", + "Diastema of the teeth": "HP:0000699", + "Gap between teeth": "HP:0000699", + "Periapical bone loss": "HP:0000700", + "Dark spot around tooth root on x-ray": "HP:0000700", + "Periapical lesion": "HP:0000700", + "Bone loss around tooth root": "HP:0000700", + "Periapical cyst": "HP:0000700", + "Periapical granuloma": "HP:0000700", + "Periapical radiolucencies": "HP:0000700", + "Periapical radiolucency": "HP:0000700", + "Dentinogenesis imperfecta": "HP:0000703", + "Periodontitis": "HP:0000704", + "Gum disease": "HP:0000704", + "Periodontal disease": "HP:0000704", + "Pyorrhea": "HP:0000704", + "Amelogenesis imperfecta": "HP:0000705", + "Eruption failure": "HP:0000706", + "Unerupted dentition": "HP:0000706", + "Failure of eruption of tooth": "HP:0000706", + "Pseudo-anodontia": "HP:0000706", + "Pseudoanodontia": "HP:0000706", + "Unerupted tooth": "HP:0000706", + "Abnormality of the nervous system": "HP:0000707", + "Brain and/or spinal cord issue": "HP:0000707", + "Neurologic abnormalities": "HP:0000707", + "Neurological abnormality": "HP:0000707", + "Atypical behavior": "HP:0000708", + "Behavioral abnormality": "HP:0000708", + "Behavioral changes": "HP:0000708", + "Behavioral disorders": "HP:0000708", + "Behavioral disturbances": "HP:0000708", + "Behavioral problems": "HP:0000708", + "Behavioral symptoms": "HP:0000708", + "Behavioral/psychiatric abnormalities": "HP:0000708", + "Behavioural abnormality": "HP:0000708", + "Behavioural changes": "HP:0000708", + "Behavioural disorders": "HP:0000708", + "Behavioural disturbances": "HP:0000708", + "Behavioural problems": "HP:0000708", + "Behavioural symptoms": "HP:0000708", + "Behavioural/Psychiatric abnormality": "HP:0000708", + "Behavioural/psychiatric abnormality": "HP:0000708", + "Psychiatric disorders": "HP:0000708", + "Psychiatric disturbances": "HP:0000708", + "Psychosis": "HP:0000709", + "Hyperorality": "HP:0000710", + "Hyperoralia": "HP:0000710", + "Mouthing": "HP:0000710", + "Restlessness": "HP:0000711", + "Fidgetiness": "HP:0000711", + "Restiveness": "HP:0000711", + "Emotional lability": "HP:0000712", + "Emotional instability": "HP:0000712", + "Mood alterations": "HP:0000712", + "Mood changes": "HP:0000712", + "Mood lability": "HP:0000712", + "Mood swings": "HP:0000712", + "Agitation": "HP:0000713", + "Psychomotor agitation": "HP:0000713", + "Depression": "HP:0000716", + "Depressive episode": "HP:0000716", + "Depressivity": "HP:0000716", + "Depressive disorder": "HP:0000716", + "Autism": "HP:0000717", + "Aggressive behavior": "HP:0000718", + "Aggression": "HP:0000718", + "Aggressiveness": "HP:0000718", + "physical aggression": "HP:0000718", + "Inappropriate behavior": "HP:0000719", + "Inappropriate behaviour": "HP:0000719", + "obsolete Mood swings": "HP:0000720", + "Lack of spontaneous play": "HP:0000721", + "Compulsive behaviors": "HP:0000722", + "OCD": "HP:0000722", + "Obsessive compulsive behavior": "HP:0000722", + "Obsessive compulsive behaviour": "HP:0000722", + "Obsessive compulsive disorder": "HP:0000722", + "Obsessive-compulsive behavior": "HP:0000722", + "Obsessive-compulsive behaviour": "HP:0000722", + "Obsessive-compulsive disorder": "HP:0000722", + "Restrictive behavior": "HP:0000723", + "Restricted behavior": "HP:0000723", + "Restricted behaviour": "HP:0000723", + "Restrictive behavior, interests, and activities": "HP:0000723", + "Psychotic episodes": "HP:0000725", + "Dementia": "HP:0000726", + "Dementia, progressive": "HP:0000726", + "Progressive dementia": "HP:0000726", + "Frontal lobe dementia": "HP:0000727", + "Impaired ability to form peer relationships": "HP:0000728", + "Autistic behavior": "HP:0000729", + "ASD": "HP:0001631", + "Autistic behaviour": "HP:0000729", + "Pervasive developmental disorder": "HP:0000729", + "Autism spectrum disorder": "HP:0000729", + "Autism spectrum disorders": "HP:0000729", + "Autistic behaviors": "HP:0000729", + "Autistic behaviours": "HP:0000729", + "Inflexible adherence to routines": "HP:0000732", + "Motor stereotypy": "HP:0000733", + "Abnormal repetitive mannerism": "HP:0000733", + "Repetitive behavior": "HP:0000733", + "Repetitive behaviour Stereotypic behaviour": "HP:0000733", + "Repetitive movements": "HP:0000733", + "Repetitive, stereotypic behavior": "HP:0000733", + "Stereotyped": "HP:0000733", + "Stereotyped behavior": "HP:0000733", + "Stereotyped behaviors": "HP:0000733", + "Stereotyped behaviour": "HP:0000733", + "Stereotyped behaviours": "HP:0000733", + "Stereotypic behaviour": "HP:0000733", + "Stereotypic behaviours": "HP:0000733", + "Stereotypical motor behavior": "HP:0000733", + "Stereotypical motor behaviors": "HP:0000733", + "Stereotypical motor behaviour": "HP:0000733", + "Stereotypical motor behaviours": "HP:0000733", + "Stimming": "HP:0000733", + "repetitive behaviour": "HP:0000733", + "Disinhibition": "HP:0000734", + "Impulse control disorders": "HP:0000734", + "Self-control": "HP:0000734", + "obsolete Impaired social interactions": "HP:0000735", + "Short attention span": "HP:0000736", + "Easily distracted": "HP:0000736", + "Easy distractibility": "HP:0000736", + "High distractibility": "HP:0000736", + "Poor attention span": "HP:0000736", + "Problem paying attention": "HP:0000736", + "Irritability": "HP:0000737", + "Irritable": "HP:0000737", + "Irritable mood": "HP:0000737", + "Hallucinations": "HP:0000738", + "Hallucination": "HP:0000738", + "Sensory hallucination": "HP:0000738", + "Anxiety": "HP:0000739", + "Anxiousness": "HP:0000739", + "Excessive, persistent worry and fear": "HP:0000739", + "Anxiety disease": "HP:0000739", + "Episodic paroxysmal anxiety": "HP:0000740", + "Apathy": "HP:0000741", + "Lack of feeling, emotion, interest": "HP:0000741", + "Lack of feeling, emotion, interest, motivation, initiation": "HP:0000741", + "State of indifference": "HP:0000741", + "Self-mutilation": "HP:0000742", + "Deliberate self-harm": "HP:0000742", + "Self mutilation": "HP:0000742", + "Frontal release signs": "HP:0000743", + "Frontal release reflexes": "HP:0000743", + "Low frustration tolerance": "HP:0000744", + "Intolerance to frustration": "HP:0000744", + "Abnormal diminished volition": "HP:0000745", + "Diminished energy": "HP:0000745", + "Diminished motivation": "HP:0000745", + "Diminished volitional state": "HP:0000745", + "Lack of initiative": "HP:0000745", + "Lack of motivation": "HP:0000745", + "Lacking in initiative": "HP:0000745", + "Lacks initiative": "HP:0000745", + "Delusion": "HP:0000746", + "Delusions": "HP:0000746", + "Inappropriate laughter": "HP:0000748", + "Paroxysmal bursts of laughter": "HP:0000749", + "Paroxysmal laughter": "HP:0000749", + "Delayed speech and language development": "HP:0000750", + "Deficiency of speech development": "HP:0000750", + "Delayed language development": "HP:0000750", + "Delayed speech": "HP:0000750", + "Delayed speech acquisition": "HP:0000750", + "Delayed speech development": "HP:0000750", + "Impaired speech and language development": "HP:0000750", + "Impaired speech development": "HP:0000750", + "Language delay": "HP:0000750", + "Language delayed": "HP:0000750", + "Language development deficit": "HP:0000750", + "Late-onset speech development": "HP:0000750", + "Poor language development": "HP:0000750", + "Speech and language delay": "HP:0000750", + "Speech and language difficulties": "HP:0000750", + "Speech delay": "HP:0000750", + "Poor speech acquisition": "HP:0000750", + "Poor speech development": "HP:0000750", + "Speech difficulties": "HP:0000750", + "Personality changes": "HP:0000751", + "Personality change": "HP:0000751", + "Hyperactivity": "HP:0000752", + "Hyperactive behavior": "HP:0000752", + "Hyperactive behaviour": "HP:0000752", + "Hyperkinetic disorder": "HP:0000752", + "More active than typical": "HP:0000752", + "hyperkinetic disorder": "HP:0000752", + "Autism with high cognitive abilities": "HP:0000753", + "Agoraphobia": "HP:0000756", + "Fear of open spaces": "HP:0000756", + "Lack of insight": "HP:0000757", + "Anosognosia": "HP:0000757", + "Abnormal nonverbal communicative behavior": "HP:0000758", + "Impaired use of nonverbal behaviors": "HP:0000758", + "Impaired use of nonverbal behaviours": "HP:0000758", + "Abnormal peripheral nervous system morphology": "HP:0000759", + "Abnormal peripheral nervous system structure": "HP:0000759", + "Peripheral nervous system disease": "HP:0000759", + "Decreased nerve conduction velocity": "HP:0000762", + "Decreased NCV": "HP:0000762", + "Decreased nerve conduction velocities": "HP:0000762", + "Delayed nerve conduction velocity": "HP:0000762", + "Reduced nerve conduction velocities": "HP:0000762", + "Slow nerve conduction velocity": "HP:0000762", + "Slowed nerve conduction velocities": "HP:0000762", + "Sensory neuropathy": "HP:0000763", + "Damage to nerves that sense feeling": "HP:0000763", + "Peripheral sensory neuropathy": "HP:0000763", + "Peripheral axonal degeneration": "HP:0000764", + "Abnormal thorax morphology": "HP:0000765", + "Abnormality of the chest": "HP:0000765", + "Abnormality of the thorax": "HP:0000765", + "Structural abnormality of the chest wall": "HP:0000765", + "Abnormal sternum morphology": "HP:0000766", + "Abnormality of the sternum": "HP:0000766", + "Pectus carinatum or pectus excavatum": "HP:0000766", + "Pectus deformities": "HP:0000766", + "Pectus deformity": "HP:0000766", + "Pectus excavatum or carinatum": "HP:0000766", + "Pectus excavatum or pectus carinatum": "HP:0000766", + "Pectus excavatum/carinatum": "HP:0000766", + "Sternal anomalies": "HP:0000766", + "Pectus excavatum": "HP:0000767", + "Funnel chest": "HP:0000767", + "Pectus carinatum": "HP:0000768", + "Pigeon chest": "HP:0000768", + "Abnormality of the breast": "HP:0000769", + "Gynecomastia": "HP:0000771", + "Enlarged male breast": "HP:0000771", + "Gynaecomastia": "HP:0000771", + "Abnormal rib morphology": "HP:0000772", + "Abnormality of the ribs": "HP:0000772", + "Rib abnormalities": "HP:0000772", + "Rib anomalies": "HP:0000772", + "Short ribs": "HP:0000773", + "Hypoplastic ribs": "HP:0000773", + "Rib hypoplasia": "HP:0000773", + "Narrow chest": "HP:0000774", + "Low chest circumference": "HP:0000774", + "Narrow shoulders": "HP:0000774", + "Narrow thorax": "HP:0000774", + "Reduced anterior-posterior chest diameter": "HP:0000774", + "Abnormality of the diaphragm": "HP:0000775", + "Diaphragm issues": "HP:0000775", + "Diaphragmatic defect": "HP:0000775", + "Congenital diaphragmatic hernia": "HP:0000776", + "Diaphragmatic hernia": "HP:0000776", + "Abnormal thymus morphology": "HP:0000777", + "Abnormality of the thymus": "HP:0000777", + "Hypoplasia of the thymus": "HP:0000778", + "Small thymus": "HP:0000778", + "Thymic hypoplasia": "HP:0000778", + "Thymus hypoplasia": "HP:0000778", + "Abnormal scapula morphology": "HP:0000782", + "Abnormality of the shoulder blade": "HP:0000782", + "Primary amenorrhea": "HP:0000786", + "Nephrolithiasis": "HP:0000787", + "Kidney stones": "HP:0000787", + "Renal calculi": "HP:0000787", + "Renal stones": "HP:0000787", + "Infertility": "HP:0000789", + "Hematuria": "HP:0000790", + "High urine occult blood": "HP:0000790", + "Blood in urine": "HP:0000790", + "Uric acid nephrolithiasis": "HP:0000791", + "Uric acid stones": "HP:0000791", + "Uric acid urolithiasis": "HP:0000791", + "Membranoproliferative glomerulonephritis": "HP:0000793", + "MPGN": "HP:0000793", + "Mesangiocapillary glomerulonephritis": "HP:0000793", + "IgA deposition in the glomerulus": "HP:0000794", + "IgA nephropathy": "HP:0000794", + "Abnormality of the urethra": "HP:0000795", + "Urethra issue": "HP:0000795", + "Urethral obstruction": "HP:0000796", + "Oligozoospermia": "HP:0000798", + "Low sperm count": "HP:0000798", + "Oligospermia": "HP:0000798", + "Renal steatosis": "HP:0000799", + "Fatty kidney": "HP:0000799", + "Cystic renal dysplasia": "HP:0000800", + "Bilateral cystic dysplasia": "HP:0000800", + "Renal cystic dysplasia": "HP:0000800", + "Renal dysplasia, cystic": "HP:0000800", + "Impotence": "HP:0000802", + "Difficulty getting a full erection": "HP:0000802", + "Difficulty getting an erection": "HP:0000802", + "Renal cortical cysts": "HP:0000803", + "Cortical cysts": "HP:0000803", + "Xanthine nephrolithiasis": "HP:0000804", + "Urinary xanthine stones": "HP:0000804", + "Xanthine stones": "HP:0000804", + "Enuresis": "HP:0000805", + "Glanular hypospadias": "HP:0000807", + "Balanic hypospadias": "HP:0000807", + "Penoscrotal hypospadias": "HP:0000808", + "Urinary tract atresia": "HP:0000809", + "Abnormal external genitalia morphology": "HP:0000811", + "Abnormal external genitalia": "HP:0000811", + "Abnormal internal genitalia": "HP:0000812", + "Bicornuate uterus": "HP:0000813", + "Heart shaped uterus": "HP:0000813", + "Heart-shaped uterus": "HP:0000813", + "Uterus bicornis": "HP:0000813", + "Hypergonadotropic hypogonadism": "HP:0000815", + "Hypergonadotrophic hypogonadism": "HP:0000815", + "Primary hypogonadism": "HP:0000815", + "Abnormality of Krebs cycle metabolism": "HP:0000816", + "Abnormality of citric acid cycle": "HP:0000816", + "Abnormality of the tricarboxylic cycle": "HP:0000816", + "Reduced eye contact": "HP:0000817", + "Poor eye contact": "HP:0000817", + "Abnormality of the endocrine system": "HP:0000818", + "Endocrine system disease": "HP:0000818", + "Diabetes mellitus": "HP:0000819", + "Abnormality of the thyroid gland": "HP:0000820", + "Thyroid abnormality": "HP:0000820", + "Thyroid disease": "HP:0000820", + "Hypothyroidism": "HP:0000821", + "Low T4": "HP:0000821", + "Underactive thyroid": "HP:0000821", + "Hypertension": "HP:0000822", + "Arterial hypertension": "HP:0000822", + "Systemic hypertension": "HP:0000822", + "High blood pressure": "HP:0000822", + "Delayed puberty": "HP:0000823", + "Delayed pubertal development": "HP:0000823", + "Delayed pubertal growth": "HP:0000823", + "Pubertal delay": "HP:0000823", + "Decreased response to growth hormone stimulation test": "HP:0000824", + "Hyperinsulinemic hypoglycemia": "HP:0000825", + "Hyperinsulinaemic hypoglycaemia": "HP:0000825", + "Hyperinsulinemia hypoglycemia": "HP:0000825", + "Precocious puberty": "HP:0000826", + "Early onset of puberty": "HP:0000826", + "Early puberty": "HP:0000826", + "Abnormality of the parathyroid gland": "HP:0000828", + "Parathyroid disease": "HP:0000828", + "Hypoparathyroidism": "HP:0000829", + "Decreased parathyroid hormone secretion": "HP:0000829", + "Low parathyroid hormone": "HP:0000829", + "Anterior hypopituitarism": "HP:0000830", + "Insulin-resistant diabetes mellitus": "HP:0000831", + "Insulin resistant diabetes": "HP:0000831", + "Insulin resistant diabetes mellitus": "HP:0000831", + "Insulin-resistant diabetes": "HP:0000831", + "Primary hypothyroidism": "HP:0000832", + "obsolete Glucose intolerance": "HP:0000833", + "Abnormality of the adrenal glands": "HP:0000834", + "Adrenal abnormalities": "HP:0000834", + "Adrenal gland disease": "HP:0000834", + "Adrenal hypoplasia": "HP:0000835", + "Adrenal gland hypoplasia": "HP:0000835", + "Hypoplastic adrenal glands": "HP:0000835", + "Small adrenal glands": "HP:0000835", + "Underdeveloped adrenal glands": "HP:0000835", + "Hyperthyroidism": "HP:0000836", + "Overactive thyroid": "HP:0000836", + "Increased circulating gonadotropin level": "HP:0000837", + "Elevated gonadotropins": "HP:0000837", + "Elevated serum gonadotropins": "HP:0000837", + "Gonadotropin excess": "HP:0000837", + "Pituitary dwarfism": "HP:0000839", + "Adrenogenital syndrome": "HP:0000840", + "Hyperactive renin-angiotensin system": "HP:0000841", + "Increased plasma renin activity": "HP:0000841", + "Hyperinsulinemia": "HP:0000842", + "Elevated insulin level": "HP:0000842", + "Hyperparathyroidism": "HP:0000843", + "Elevated blood parathyroid hormone level": "HP:0000843", + "Elevated circulating growth hormone concentration": "HP:0000845", + "Elevated circulating somatotropin concentration": "HP:0000845", + "Growth hormone excess": "HP:0000845", + "Somatotropin excess": "HP:0000845", + "Adrenal insufficiency": "HP:0000846", + "Hypoadrenalism": "HP:0000846", + "Abnormality of renin-angiotensin system": "HP:0000847", + "Abnormality of the renin-aldosterone axis": "HP:0000847", + "Increased circulating renin concentration": "HP:0000848", + "Elevated blood renin level": "HP:0000848", + "Elevated plasma renin": "HP:0000848", + "Hyperreninemia": "HP:0000848", + "Increased circulating renin level": "HP:0000848", + "Increased plasma renin": "HP:0000848", + "Increased serum renin": "HP:0000848", + "Adrenocortical abnormality": "HP:0000849", + "Congenital hypothyroidism": "HP:0000851", + "Hypothyroidism, congenital": "HP:0000851", + "Underactive thyroid gland from birth": "HP:0000851", + "Pseudohypoparathyroidism": "HP:0000852", + "Goiter": "HP:0000853", + "Enlarged thyroid gland in neck": "HP:0000853", + "Goitre": "HP:0000853", + "Thyroid goiter": "HP:0000853", + "Thyroid goitre": "HP:0000853", + "Thyroid adenoma": "HP:0000854", + "Insulin resistance": "HP:0000855", + "Body fails to respond to insulin": "HP:0000855", + "Neonatal insulin-dependent diabetes mellitus": "HP:0000857", + "Irregular menstruation": "HP:0000858", + "Irregular menses": "HP:0000858", + "Irregular periods": "HP:0000858", + "Menstrual irregularities": "HP:0000858", + "Menstrual irregularity": "HP:0000858", + "Increased circulating aldosterone concentration": "HP:0000859", + "Elevated plasma aldosterone": "HP:0000859", + "Increased aldosterone": "HP:0000859", + "Increased aldosterone production": "HP:0000859", + "Mineralocorticoid excess": "HP:0000859", + "Hyperaldosteronism": "HP:0000859", + "Parathyroid hypoplasia": "HP:0000860", + "Small parathyroid glands": "HP:0000860", + "Underdeveloped parathyroid glands": "HP:0000860", + "Central diabetes insipidus": "HP:0000863", + "Neurohypophyseal diabetes insipidus": "HP:0000863", + "Abnormality of the hypothalamus-pituitary axis": "HP:0000864", + "Euthyroid multinodular goiter": "HP:0000866", + "Euthyroid multinodular goitre": "HP:0000866", + "Secondary hyperparathyroidism": "HP:0000867", + "Decreased fertility in females": "HP:0000868", + "Reduced fertility in females": "HP:0000868", + "Secondary amenorrhea": "HP:0000869", + "Previous menstrual periods stop": "HP:0000869", + "Increased circulating prolactin concentration": "HP:0000870", + "Hyperprolactinaemia": "HP:0000870", + "Hyperprolactinemia": "HP:0000870", + "Prolactin excess": "HP:0000870", + "Panhypopituitarism": "HP:0000871", + "Hashimoto thyroiditis": "HP:0000872", + "Chronic lymphocytic thyroiditis": "HP:0000872", + "Hashimoto's thyroiditis": "HP:0000872", + "Diabetes insipidus": "HP:0000873", + "Episodic hypertension": "HP:0000875", + "Intermittent high blood pressure": "HP:0000875", + "Oligomenorrhea": "HP:0000876", + "Light or infrequent menstrual periods": "HP:0000876", + "Insulin-resistant diabetes mellitus at puberty": "HP:0000877", + "11 pairs of ribs": "HP:0000878", + "Short sternum": "HP:0000879", + "Hypoplastic sternum": "HP:0000879", + "Hypoplastic scapulae": "HP:0000882", + "Hypoplastic scapula": "HP:0000882", + "Scapular hypoplasia": "HP:0000882", + "Short scapulae": "HP:0000882", + "Small scapula": "HP:0000882", + "Small scapulae": "HP:0000882", + "Small shoulder blade": "HP:0000882", + "Thin ribs": "HP:0000883", + "Slender ribs": "HP:0000883", + "Prominent sternum": "HP:0000884", + "Sternal protrusion": "HP:0000884", + "Broad ribs": "HP:0000885", + "Wide ribs": "HP:0000885", + "Deformed rib cage": "HP:0000886", + "Cupped ribs": "HP:0000887", + "Rib cupping": "HP:0000887", + "Rib flaring": "HP:0000887", + "Horizontal ribs": "HP:0000888", + "Abnormal clavicle morphology": "HP:0000889", + "Abnormal clavicles": "HP:0000889", + "Abnormal collarbone": "HP:0000889", + "Abnormality of the clavicle": "HP:0000889", + "Long clavicles": "HP:0000890", + "Elongated clavicles": "HP:0000890", + "Long collarbone": "HP:0000890", + "Cervical ribs": "HP:0000891", + "Bifid ribs": "HP:0000892", + "Cleft ribs": "HP:0000892", + "Split ribs": "HP:0000892", + "Bulging of the costochondral junction": "HP:0000893", + "Short clavicles": "HP:0000894", + "Clavicular hypoplasia": "HP:0000894", + "Hypoplastic clavicles": "HP:0000894", + "Short collarbone": "HP:0000894", + "Underdeveloped clavicles": "HP:0000894", + "Lateral clavicle hook": "HP:0000895", + "Handlebar clavicle": "HP:0000895", + "Hook-shaped clavicle": "HP:0000895", + "Hook-shaped collarbone": "HP:0000895", + "Hooked clavicle": "HP:0000895", + "Rib exostoses": "HP:0000896", + "Rachitic rosary": "HP:0000897", + "Thickened ribs": "HP:0000900", + "Rib fusion": "HP:0000902", + "Fused ribs": "HP:0000902", + "Flaring of rib cage": "HP:0000904", + "Anterior flaring of ribs": "HP:0000904", + "Progressive clavicular acroosteolysis": "HP:0000905", + "Progressive acroosteolysis of the clavicle": "HP:0000905", + "Anterior rib cupping": "HP:0000907", + "Anterior cupping of ribs": "HP:0000907", + "Anteriorly splayed ribs": "HP:0000907", + "Wide-cupped costochondral junctions": "HP:0000910", + "Flat glenoid fossa": "HP:0000911", + "Sprengel anomaly": "HP:0000912", + "Congenital, upward displacement of the scapula": "HP:0000912", + "High scapula": "HP:0000912", + "High shoulder blade": "HP:0000912", + "Sprengel deformity": "HP:0000912", + "Posterior rib fusion": "HP:0000913", + "Shield chest": "HP:0000914", + "Broad chest": "HP:0000914", + "Pectus excavatum of inferior sternum": "HP:0000915", + "Pectus excavatum inferiorly": "HP:0000915", + "Broad clavicles": "HP:0000916", + "Broad collarbone": "HP:0000916", + "Superior pectus carinatum": "HP:0000917", + "Pectus carinatum superiorly": "HP:0000917", + "Scapular exostoses": "HP:0000918", + "Scapulae exostoses": "HP:0000918", + "Shoulder bone exostoes": "HP:0000918", + "Abnormality of the costochondral junction": "HP:0000919", + "Costochondral juctions abnormal": "HP:0000919", + "Enlargement of the costochondral junction": "HP:0000920", + "Costochondral thickening": "HP:0000920", + "Enlarged costochondral junctions": "HP:0000920", + "Prominent costochondral junction": "HP:0000920", + "Wide costochondral junctions": "HP:0000920", + "Widened costochondral junction": "HP:0000920", + "Missing ribs": "HP:0000921", + "Absent ribs": "HP:0000921", + "Decreased rib number": "HP:0000921", + "Posterior rib cupping": "HP:0000922", + "Anterior and posterior rib cupping": "HP:0000922", + "obsolete Beaded ribs": "HP:0000923", + "Abnormality of the skeletal system": "HP:0000924", + "Skeletal abnormalities": "HP:0000924", + "Skeletal anomalies": "HP:0000924", + "Abnormality of the vertebral column": "HP:0000925", + "Abnormal spine": "HP:0000925", + "Abnormal vertebral column": "HP:0000925", + "Abnormality of the spine": "HP:0000925", + "Abnormality of the backbone": "HP:0000925", + "Platyspondyly": "HP:0000926", + "Flat vertebral bodies": "HP:0000926", + "Flattened vertebrae": "HP:0000926", + "Flattened vertebral bodies": "HP:0000926", + "Abnormality of skeletal maturation": "HP:0000927", + "Abnormal skull morphology": "HP:0000929", + "Abnormality of the skull": "HP:0000929", + "Abnormality of the skull bones": "HP:0000929", + "Elevated imprint of the transverse sinuses": "HP:0000930", + "Elevated imprint of occipital bone over the transverse sinuses": "HP:0000930", + "Elevated imprint of posterior skull bones over the transverse sinuses": "HP:0000930", + "Thinning and bulging of occipital bone over the transverse sinuses": "HP:0000930", + "Thinning and bulging of posterior skull bones over the transverse sinuses": "HP:0000930", + "Thinning and bulging of the posterior fossa bones": "HP:0000931", + "Thinning and bulging of posterior fossa bones": "HP:0000931", + "Thinning and bulging of posterior skull bones": "HP:0000931", + "Thinning and bulging of occipital bone of skull": "HP:0000931", + "Abnormal posterior cranial fossa morphology": "HP:0000932", + "Abnormality of the posterior cranial fossa": "HP:0000932", + "Abnormality of the posterior fossa": "HP:0000932", + "Posterior fossa anomaly": "HP:0000932", + "Posterior fossa cyst at the fourth ventricle": "HP:0000933", + "Chondrocalcinosis": "HP:0000934", + "Calcium deposits in joints": "HP:0000934", + "Thickened cortex of long bones": "HP:0000935", + "Broad cortex of long bones": "HP:0000935", + "Cortical thickening of the long bones": "HP:0000935", + "Thickened cortices of long bones": "HP:0000935", + "Osteopenia": "HP:0000938", + "Generalised osteopenia": "HP:0000938", + "Generalized osteopenia": "HP:0000938", + "Osteopaenia": "HP:0000938", + "Osteoporosis": "HP:0000939", + "Abnormal diaphysis morphology": "HP:0000940", + "Abnormal shape of shaft of long bone": "HP:0000940", + "Abnormality involving the diaphyses of the limbs": "HP:0000940", + "Abnormality of shaft of long bone of the limbs": "HP:0006504", + "Abnormality of the diaphyses": "HP:0000940", + "Anomaly of the limb diaphyses": "HP:0000940", + "Anomaly of the limb diaphyses morphology": "HP:0000940", + "Short diaphyses": "HP:0000941", + "Short shaft of long bone": "HP:0000941", + "Dysostosis multiplex": "HP:0000943", + "Abnormal metaphysis morphology": "HP:0000944", + "Abnormality of the wide portion of a long bone": "HP:0000944", + "Hypoplastic ilia": "HP:0000946", + "Small wings of the pelvic girdle": "HP:0000946", + "Short and small iliac bones": "HP:0000946", + "Small iliac bones": "HP:0000946", + "Dumbbell-shaped long bone": "HP:0000947", + "Dumbbell widening of long bone metaphyses": "HP:0000947", + "Abnormality of the skin": "HP:0000951", + "Dermatopathy": "HP:0000951", + "Dermopathy": "HP:0000951", + "Skin abnormality": "HP:0000951", + "Jaundice": "HP:0000952", + "Icterus": "HP:0000952", + "Yellow skin": "HP:0000952", + "Yellowing of the skin": "HP:0000952", + "Hyperpigmentation of the skin": "HP:0000953", + "Cutaneous hyperpigmentation": "HP:0000953", + "Hyperpigmented lesion": "HP:0000953", + "Increased skin pigmentation": "HP:0000953", + "Patchy darkened skin": "HP:0000953", + "Skin hyperpigmentation": "HP:0000953", + "Melanoderma": "HP:0000953", + "Melanodermia": "HP:0000953", + "Single transverse palmar crease": "HP:0000954", + "Simian crease": "HP:0000954", + "Simian creases": "HP:0000954", + "Simian line": "HP:0000954", + "Single flexion crease": "HP:0000954", + "Single palmar crease": "HP:0000954", + "Single palmar creases": "HP:0000954", + "Single transverse palmar creases": "HP:0000954", + "Transverse palmar crease": "HP:0000954", + "Acanthosis nigricans": "HP:0000956", + "Darkened and thickened skin": "HP:0000956", + "Keratosis nigricans": "HP:0000956", + "Cafe-au-lait spot": "HP:0000957", + "Birthmark": "HP:0000957", + "Flat light-brown mark on skin": "HP:0000957", + "Cafe au lait spots": "HP:0000957", + "Cafe-au-lait macule": "HP:0000957", + "Cafe-au-lait macules": "HP:0000957", + "Cafe-au-lait spots": "HP:0000957", + "Dry skin": "HP:0000958", + "Xerosis": "HP:0000958", + "Sacral dimple": "HP:0000960", + "Pilonidal dimple": "HP:0000960", + "Spinal dimple": "HP:0000960", + "Cyanosis": "HP:0000961", + "Blue discoloration of the skin": "HP:0000961", + "Hyperkeratosis": "HP:0000962", + "Epidermal hyperkeratosis": "HP:0000962", + "Thin skin": "HP:0000963", + "Eczematoid dermatitis": "HP:0000964", + "Eczema": "HP:0000964", + "Cutis marmorata": "HP:0000965", + "Hypohidrosis": "HP:0000966", + "Decreased ability to sweat": "HP:0000966", + "Decreased sweating": "HP:0000966", + "Inadequate sweating": "HP:0000966", + "Oligohidrosis": "HP:0000966", + "Sweating, decreased": "HP:0000966", + "Petechiae": "HP:0000967", + "Ectodermal dysplasia": "HP:0000968", + "Edema": "HP:0000969", + "Soft tissue swelling": "HP:0000969", + "Dropsy": "HP:0000969", + "Fluid retention": "HP:0000969", + "Hydrops": "HP:0000969", + "Oedema": "HP:0000969", + "Water retention": "HP:0000969", + "Anhidrosis": "HP:0000970", + "Anhydrosis": "HP:0000970", + "Lack of sweating": "HP:0000970", + "Sudomotor dysfunction": "HP:0000970", + "Sweating dysfunction": "HP:0000970", + "Abnormal sweat gland morphology": "HP:0000971", + "Abnormality of the sweat gland": "HP:0000971", + "Abnormalities of sweating": "HP:0000971", + "Sweat gland disease": "HP:0000971", + "Palmoplantar hyperkeratosis": "HP:0000972", + "Hyperkeratosis of palms and soles": "HP:0000972", + "Hyperkeratosis of the palms and soles": "HP:0000972", + "Palmoplantar keratoses": "HP:0000972", + "Palmoplantar keratosis": "HP:0000972", + "Thick palms and soles": "HP:0000972", + "Thickened palms and soles": "HP:0000972", + "Thickening of the outer layer of the skin of the palms and soles": "HP:0000972", + "Cutis laxa": "HP:0000973", + "Hanging skin": "HP:0000973", + "Chalazoderma": "HP:0000973", + "Cutaneous laxity": "HP:0000973", + "Dermatochalasia": "HP:0000973", + "Dermatomegaly": "HP:0000973", + "Elastolysis": "HP:0000973", + "Generalised elastolysis": "HP:0000973", + "Generalized elastolysis": "HP:0000973", + "Hypoelastic skin": "HP:0000973", + "Inelastic skin": "HP:0000973", + "Lax skin": "HP:0000973", + "Loose and inelastic skin": "HP:0000973", + "Loose skin": "HP:0000973", + "Skin laxity": "HP:0000973", + "Hyperextensible skin": "HP:0000974", + "Hyperelastic skin": "HP:0000974", + "Skin hyperelasticity": "HP:0000974", + "Skin hyperextensibility": "HP:0000974", + "Stretchable skin": "HP:0000974", + "Hyperhidrosis": "HP:0000975", + "Diaphoresis": "HP:0000975", + "Excessive sweating": "HP:0000975", + "Increased sweating": "HP:0000975", + "Profuse sweating": "HP:0000975", + "Sweating": "HP:0000975", + "Sweating profusely": "HP:0000975", + "Sweating, increased": "HP:0000975", + "obsolete Eczematoid dermatitis": "HP:0000976", + "Soft skin": "HP:0000977", + "Velvety skin": "HP:0000977", + "Velvety skin texture": "HP:0000977", + "Bruising susceptibility": "HP:0000978", + "Bruisability": "HP:0000978", + "Bruise easily": "HP:0000978", + "Easy bruisability": "HP:0000978", + "Easy bruising": "HP:0000978", + "Purpura": "HP:0000979", + "Blood spots": "HP:0000979", + "Red or purple spots on the skin": "HP:0000979", + "Pallor": "HP:0000980", + "Paleness": "HP:0000980", + "Skin paleness": "HP:0000980", + "Palmoplantar keratoderma": "HP:0000982", + "Palmar and plantar keratoderma": "HP:0000982", + "Thickening of palms and soles": "HP:0000982", + "Atypical scarring of skin": "HP:0000987", + "Atypical scarring": "HP:0000987", + "Skin rash": "HP:0000988", + "Rash": "HP:0000988", + "Pruritus": "HP:0000989", + "Itching": "HP:0000989", + "Itchy skin": "HP:0000989", + "Skin itching": "HP:0000989", + "Xanthomatosis": "HP:0000991", + "Xanthomata": "HP:0000991", + "Yellow bumps of fatty deposits on skin": "HP:0000991", + "Cutaneous photosensitivity": "HP:0000992", + "Photosensitive skin": "HP:0000992", + "Photosensitive skin rashes": "HP:0000992", + "Photosensitivity": "HP:0000992", + "Sensitivity to sunlight": "HP:0000992", + "Skin photosensitivity": "HP:0000992", + "Sun sensitivity": "HP:0000992", + "Molluscoid pseudotumors": "HP:0000993", + "Molluscoid pseudotumor": "HP:0000993", + "Melanocytic nevus": "HP:0000995", + "Noncancerous mole": "HP:0000995", + "Beauty mark": "HP:0000995", + "Melanocytic naevus": "HP:0000995", + "Melanocytic nevi": "HP:0000995", + "Nevocellular nevi": "HP:0000995", + "Pigmented naevi": "HP:0000995", + "Pigmented nevi": "HP:0000995", + "Facial capillary hemangioma": "HP:0000996", + "Axillary freckling": "HP:0000997", + "Hypertrichosis": "HP:0000998", + "Excessive hair growth": "HP:0000998", + "Increased hair growth on body": "HP:0000998", + "Pyoderma": "HP:0000999", + "Pus-filled lesion": "HP:0000999", + "Abnormality of skin pigmentation": "HP:0001000", + "Abnormal pigmentation": "HP:0001000", + "Abnormal skin color": "HP:0001000", + "Abnormal skin colour": "HP:0001000", + "Abnormal skin pigmentation": "HP:0001000", + "Abnormality of pigmentation": "HP:0001000", + "Pigmentary changes": "HP:0001000", + "Pigmentary skin changes": "HP:0001000", + "Pigmentation anomaly": "HP:0001000", + "Abnormality of subcutaneous fat tissue": "HP:0001001", + "Abnormality of fatty tissue below the skin": "HP:0001001", + "obsolete Decreased subcutaneous fat": "HP:0001002", + "Multiple lentigines": "HP:0001003", + "Liver spots": "HP:0001003", + "Lymphedema": "HP:0001004", + "Lymphatic obstruction": "HP:0001004", + "Lymphoedema": "HP:0001004", + "Onset of lymphedema around puberty": "HP:0001004", + "Swelling caused by excess lymph fluid under skin": "HP:0001004", + "Dermatological manifestations of systemic disorders": "HP:0001005", + "obsolete Hypotrichosis": "HP:0001006", + "Hirsutism": "HP:0001007", + "Excessive hairiness": "HP:0001007", + "Accumulation of melanosomes in melanocytes": "HP:0001008", + "Telangiectasia": "HP:0001009", + "Telangiectases": "HP:0001009", + "Spider veins": "HP:0001009", + "Hypopigmentation of the skin": "HP:0001010", + "Hypopigmentation": "HP:0001010", + "Hypopigmented skin": "HP:0001010", + "Patchy lightened skin": "HP:0001010", + "Skin hypopigmentation": "HP:0001010", + "obsolete Diaphoresis (with pheochromocytoma)": "HP:0001011", + "Multiple lipomas": "HP:0001012", + "Multiple fatty lumps": "HP:0001012", + "Lipomas": "HP:0001012", + "Lipomatosis": "HP:0001012", + "Eruptive xanthomas": "HP:0001013", + "Angiokeratoma": "HP:0001014", + "Angiokeratomas": "HP:0001014", + "Prominent superficial veins": "HP:0001015", + "Marked subcutaneous veins": "HP:0001015", + "Prominent veins": "HP:0001015", + "Anemic pallor": "HP:0001017", + "Anaemic pallor": "HP:0001017", + "Abnormal palmar dermatoglyphics": "HP:0001018", + "Erythroderma": "HP:0001019", + "Red scaly skin caused by inflammatory skin disease": "HP:0001019", + "Exfoliative dermititis": "HP:0001019", + "Generalised erythroderma": "HP:0001019", + "Generalised erythrodermia": "HP:0001019", + "Generalized erythroderma": "HP:0001019", + "Generalized erythrodermia": "HP:0001019", + "Albinism": "HP:0001022", + "Achromasia": "HP:0001022", + "Skin dimple over apex of long bone angulation": "HP:0001024", + "Urticaria": "HP:0001025", + "Hives": "HP:0001025", + "Penetrating foot ulcers": "HP:0001026", + "Soft, doughy skin": "HP:0001027", + "Hemangioma": "HP:0001028", + "Strawberry mark": "HP:0001028", + "Hemangiomata": "HP:0001028", + "Poikiloderma": "HP:0001029", + "Fragile skin": "HP:0001030", + "Skin fragility": "HP:0001030", + "Subcutaneous lipoma": "HP:0001031", + "Absent distal interphalangeal creases": "HP:0001032", + "Absence of skin creases over distal interphalangeal joints": "HP:0001032", + "Aplasia of the distal interphalangeal creases": "HP:0001032", + "Distal finger flexion creases absent": "HP:0001032", + "Facial flushing after alcohol intake": "HP:0001033", + "Hypermelanotic macule": "HP:0001034", + "Hyperpigmented macules": "HP:0001034", + "Hyperpigmented spots": "HP:0001034", + "Hyperpigmented skin patches": "HP:0001034", + "Parakeratosis": "HP:0001036", + "Warfarin-induced skin necrosis": "HP:0001038", + "Atheroeruptive xanthoma": "HP:0001039", + "Multiple pterygia": "HP:0001040", + "Facial erythema": "HP:0001041", + "Blushed cheeks": "HP:0001041", + "Blushing": "HP:0001041", + "Red face": "HP:0001041", + "Red in the face": "HP:0001041", + "Rosacea": "HP:0001041", + "Ruddy face": "HP:0001041", + "High axial triradius": "HP:0001042", + "Prominent scalp veins": "HP:0001043", + "Vitiligo": "HP:0001045", + "Blotchy loss of skin color": "HP:0001045", + "Blotchy loss of skin colour": "HP:0001045", + "Intermittent jaundice": "HP:0001046", + "Intermittent icterus": "HP:0001046", + "Intermittent yellow skin": "HP:0001046", + "Intermittent yellowing of skin": "HP:0001046", + "Atopic dermatitis": "HP:0001047", + "Allergic eczema": "HP:0001047", + "Atopic dermatitis, chronic": "HP:0001047", + "Atopic eczema": "HP:0001047", + "Dermatitis, Atopic": "HP:0001047", + "Infantile eczema": "HP:0001047", + "Neurodermatitis": "HP:0001047", + "Prurigo Besnier": "HP:0001047", + "Baby eczema": "HP:0001047", + "Cavernous hemangioma": "HP:0001048", + "Cavernous angioma": "HP:0001048", + "Cavernous haemangioma": "HP:0001048", + "Collection of dilated blood vessels that forms mass": "HP:0001048", + "Absent dorsal skin creases over affected joints": "HP:0001049", + "Plethora": "HP:0001050", + "Seborrheic dermatitis": "HP:0001051", + "Seborrhea": "HP:0001051", + "Seborrheic eczema": "HP:0001051", + "Dysseborrheic dermatitis": "HP:0001051", + "Nevus flammeus": "HP:0001052", + "Nevus simplex": "HP:0001052", + "port-wine stain": "HP:0001052", + "Hypopigmented skin patches": "HP:0001053", + "Patchy loss of skin color": "HP:0001053", + "Patchy loss of skin colour": "HP:0001053", + "Numerous nevi": "HP:0001054", + "Multiple pigmented nevi": "HP:0001054", + "Numerous moles": "HP:0001054", + "Erysipelas": "HP:0001055", + "St. Anthony's Fire": "HP:0001055", + "Milia": "HP:0001056", + "Milk spot": "HP:0001056", + "Millium cyst": "HP:0001056", + "Aplasia cutis congenita": "HP:0001057", + "Congenital scars": "HP:0001057", + "Absence of part of skin at birth": "HP:0001057", + "Congenital absence of skin": "HP:0001057", + "Cutis aplasia": "HP:0001057", + "Poor wound healing": "HP:0001058", + "Pterygium": "HP:0001059", + "Pterygia": "HP:0001059", + "Axillary pterygium": "HP:0001060", + "Axillary pterygia": "HP:0001060", + "Acne": "HP:0001061", + "Breaking out": "HP:0001061", + "Atypical nevus": "HP:0001062", + "Atypical mole": "HP:0001062", + "Dysplastic Nevus": "HP:0001062", + "Acrocyanosis": "HP:0001063", + "Persistent blue color of hands or feet": "HP:0001063", + "Persistent blue colour of hands or feet": "HP:0001063", + "Striae distensae": "HP:0001065", + "Purplish striae": "HP:0001065", + "Stretch marks": "HP:0001065", + "Striae": "HP:0001065", + "Striae atrophicae": "HP:0001065", + "Striae cutis distensae": "HP:0001065", + "Neurofibroma": "HP:0001067", + "Neurofibromata": "HP:0001067", + "Neurofibromatosis": "HP:0001067", + "multiple neurofibromas": "HP:0001067", + "Episodic hyperhidrosis": "HP:0001069", + "Hyperhidrosis, episodic": "HP:0001069", + "Sporadic excessive sweating": "HP:0001069", + "Mottled pigmentation": "HP:0001070", + "Mottled skin coloring": "HP:0001070", + "Mottled skin colouring": "HP:0001070", + "Stippled pigmentation": "HP:0001070", + "Angiokeratoma corporis diffusum": "HP:0001071", + "Fabry syndrome": "HP:0001071", + "Thickened skin": "HP:0001072", + "Pachydermia": "HP:0001072", + "Thick skin": "HP:0001072", + "Diffusely thickened skin": "HP:0001072", + "Cigarette-paper scars": "HP:0001073", + "Cigarette paper scarring": "HP:0001073", + "Atypical nevi in non-sun exposed areas": "HP:0001074", + "Atrophic scars": "HP:0001075", + "Sunken or indented skin due to damage": "HP:0001075", + "Thin, atrophic scars": "HP:0001075", + "Glabellar hemangioma": "HP:0001076", + "Glabellar capillary hemangioma": "HP:0001076", + "Biliary tract abnormality": "HP:0001080", + "Biliary tract disease": "HP:0001080", + "Cholelithiasis": "HP:0001081", + "Gallstones": "HP:0001081", + "Cholecystitis": "HP:0001082", + "Gallbladder inflammation": "HP:0001082", + "Ectopia lentis": "HP:0001083", + "Abnormality of lens position": "HP:0001083", + "Lens dislocation": "HP:0001083", + "Corneal arcus": "HP:0001084", + "Anterior embryotoxon": "HP:0001084", + "Arcus lipoidis": "HP:0001084", + "Arcus senilis": "HP:0001084", + "Corneal annulus": "HP:0001084", + "Gerontoxon": "HP:0001084", + "Arcus juvenilis": "HP:0001084", + "Papilledema": "HP:0001085", + "Papillitis": "HP:0001085", + "Developmental glaucoma": "HP:0001087", + "Childhood glaucoma": "HP:0001087", + "Infantile glaucoma": "HP:0001087", + "Paediatric glaucoma": "HP:0001087", + "Pediatric glaucoma": "HP:0001087", + "Brushfield spots": "HP:0001088", + "Iris brushfield spots": "HP:0001088", + "Speckled iris": "HP:0001088", + "Iris atrophy": "HP:0001089", + "Iris degeneration": "HP:0001089", + "Abnormally large globe": "HP:0001090", + "Increased size of eyes": "HP:0001090", + "Large eyes": "HP:0001090", + "Megalophthalmos": "HP:0001090", + "Increased size of palpebral fissures": "HP:0001090", + "Large eyeballs": "HP:0001090", + "Large of palpebral fissures": "HP:0001090", + "Absent lacrimal punctum": "HP:0001092", + "Absent lacrimal gland puncta": "HP:0001092", + "Absent lacrimal openings": "HP:0001092", + "Absent lacrimal puncta": "HP:0001092", + "Aplasia of lacrimal puncta": "HP:0001092", + "Lacrimal puncta aplasia": "HP:0001092", + "Lacrimal punctum, absence": "HP:0001092", + "Agenesis of the lacrimal punctum": "HP:0001092", + "Optic nerve dysplasia": "HP:0001093", + "Iridocyclitis": "HP:0001094", + "Hypertensive retinopathy": "HP:0001095", + "Keratoconjunctivitis": "HP:0001096", + "Keratoconjunctivitis sicca": "HP:0001097", + "Dry eyes": "HP:0001097", + "Keratitis sicca": "HP:0001097", + "Xerophthalmia": "HP:0001097", + "Dry eye syndrome": "HP:0001097", + "Abnormal fundus morphology": "HP:0001098", + "Abnormality of the fundus": "HP:0001098", + "Fundus atrophy": "HP:0001099", + "Heterochromia iridis": "HP:0001100", + "Different colored eyes": "HP:0001100", + "Different coloured eyes": "HP:0001100", + "Heterochromia irides": "HP:0001100", + "Iritis": "HP:0001101", + "Inflammation of iris": "HP:0001101", + "Angioid streaks of the fundus": "HP:0001102", + "Angioid streaks": "HP:0001102", + "Angioid streaks of the retina": "HP:0001102", + "Angioid streaks, retina": "HP:0001102", + "Knapp streaks": "HP:0001102", + "Laquer cracks of the retina": "HP:0001102", + "Abnormal macular morphology": "HP:0001103", + "Abnormality of the macula": "HP:0001103", + "Macula abnormality": "HP:0001103", + "Macular abnormality": "HP:0001103", + "Macular hypoplasia": "HP:0001104", + "Retinal atrophy": "HP:0001105", + "Periorbital hyperpigmentation": "HP:0001106", + "Dark circles around the eyes": "HP:0001106", + "Dark circles under the eyes": "HP:0001106", + "Darkening around the eyes": "HP:0001106", + "Idiopathic cutaneous hyperchromia at the orbital region": "HP:0001106", + "Infraorbital pigmentation": "HP:0001106", + "Periorbital melanosis": "HP:0001106", + "Pigmentation around the eyes": "HP:0001106", + "Ocular albinism": "HP:0001107", + "Absent pigmentation in the eye": "HP:0001107", + "Albinism, Ocular": "HP:0001107", + "Leber optic atrophy": "HP:0001112", + "Leber optic atrophy features": "HP:0001112", + "Leber optic degeneration": "HP:0001112", + "obsolete Early cataracts": "HP:0001113", + "Xanthelasma": "HP:0001114", + "Fatty deposits in skin around the eyes": "HP:0001114", + "Fatty deposits on eyelids": "HP:0001114", + "Xanthelasma palpebrarum": "HP:0001114", + "Xanthoma": "HP:0001114", + "Xanthelasma of eyelid": "HP:0001114", + "Xanthelasma of periocular region": "HP:0001114", + "Xanthoma of eyelid": "HP:0001114", + "Xanthoma of periocular region": "HP:0001114", + "Posterior polar cataract": "HP:0001115", + "Polar cataract, posterior": "HP:0001115", + "Macular coloboma": "HP:0001116", + "Coloboma of the macula": "HP:0001116", + "Sudden loss of visual acuity": "HP:0001117", + "Sudden decrease in vision": "HP:0001117", + "Sudden central visual loss": "HP:0001117", + "Juvenile cataract": "HP:0001118", + "Keratoglobus": "HP:0001119", + "Abnormality of corneal size": "HP:0001120", + "obsolete Aplasia/Hypoplasia of the choroid": "HP:0001122", + "Visual field defect": "HP:0001123", + "Partial loss of field of vision": "HP:0001123", + "Visual field defects": "HP:0001123", + "Transient unilateral blurring of vision": "HP:0001125", + "Hemianoptic blurring of vision": "HP:0001125", + "Transient unilateral blurred vision": "HP:0001125", + "Hemianopic blurring": "HP:0001125", + "Cryptophthalmos": "HP:0001126", + "Trichiasis": "HP:0001128", + "Ingrown eyelashes": "HP:0001128", + "Introversion of eyelashes": "HP:0001128", + "Trichiasis of eyelid eyelashes": "HP:0001128", + "Large central visual field defect": "HP:0001129", + "Large central loss of field of vision": "HP:0001129", + "Corneal dystrophy": "HP:0001131", + "Lens subluxation": "HP:0001132", + "Partially dislocated lens": "HP:0001132", + "Constriction of peripheral visual field": "HP:0001133", + "Concentric narrowing of visual field": "HP:0001133", + "Constricted visual field": "HP:0001133", + "Constricted visual fields": "HP:0001133", + "Limited peripheral vision": "HP:0001133", + "Reduced peripheral vision": "HP:0001133", + "Visual field constriction": "HP:0001133", + "Anterior polar cataract": "HP:0001134", + "Polar cataract, anterior": "HP:0001134", + "Chorioretinal dystrophy": "HP:0001135", + "Retinal arteriolar tortuosity": "HP:0001136", + "Tortuous retinal arterioles": "HP:0001136", + "Alternating esotropia": "HP:0001137", + "Alternating cross eyes": "HP:0001137", + "Optic neuropathy": "HP:0001138", + "Damaged optic nerve": "HP:0001138", + "Choroideremia": "HP:0001139", + "Limbal dermoid": "HP:0001140", + "Benign eye tumor": "HP:0001140", + "Benign eye tumour": "HP:0001140", + "Epibulbar dermoid": "HP:0001140", + "Epibulbar dermoids": "HP:0001140", + "Severely reduced visual acuity": "HP:0001141", + "Marked vision impairment": "HP:0001141", + "Severe reduction in visual acuity": "HP:0001141", + "Severe vision loss": "HP:0001141", + "Severe visual impairment": "HP:0001141", + "Severe visual loss": "HP:0001141", + "Severely impaired vision": "HP:0001141", + "Lenticonus": "HP:0001142", + "Orbital cyst": "HP:0001144", + "Cyst of eye socket": "HP:0001144", + "Orbital cysts": "HP:0001144", + "obsolete Chorioretinopathy": "HP:0001145", + "obsolete Pigmentary retinal degeneration": "HP:0001146", + "Retinal exudate": "HP:0001147", + "Retinal exudates": "HP:0001147", + "Lattice corneal dystrophy": "HP:0001149", + "Biber haab dimmer dystrophy": "HP:0001149", + "obsolete Choroidal sclerosis": "HP:0001150", + "Impaired horizontal smooth pursuit": "HP:0001151", + "Abnormal horizontal ocular pursuit": "HP:0001151", + "Impaired horizontal visual pursuit": "HP:0001151", + "Saccadic smooth pursuit": "HP:0001152", + "Saccadic pursuit movements": "HP:0001152", + "Saccadic slow pursuit": "HP:0001152", + "Septate vagina": "HP:0001153", + "Double vagina": "HP:0001153", + "Abnormality of the hand": "HP:0001155", + "Abnormal hands": "HP:0001155", + "Hand anomalies": "HP:0001155", + "Hand deformities": "HP:0001155", + "Brachydactyly": "HP:0001156", + "Brachydactyly syndrome": "HP:0001156", + "Short fingers or toes": "HP:0001156", + "Syndactyly": "HP:0001159", + "Webbed fingers or toes": "HP:0001159", + "Hand polydactyly": "HP:0001161", + "Extra finger": "HP:0001161", + "Finger polydactyly": "HP:0001161", + "Polydactyly of the hand": "HP:0001161", + "Supernumerary finger": "HP:0001161", + "Postaxial hand polydactyly": "HP:0001162", + "Extra little finger": "HP:0001162", + "Extra pinkie finger": "HP:0001162", + "Extra pinky finger": "HP:0001162", + "Polydactyly affecting the 5th finger": "HP:0001162", + "Postaxial polydactyly of fingers": "HP:0001162", + "Postaxial polydactyly of hand": "HP:0001162", + "Postaxial polydactyly of hands": "HP:0001162", + "obsolete Abnormality of the metacarpal bones": "HP:0001163", + "Arachnodactyly": "HP:0001166", + "Long slender fingers": "HP:0001166", + "Long, slender fingers": "HP:0001166", + "Spider fingers": "HP:0001166", + "Abnormal finger morphology": "HP:0001167", + "Abnormalities of the fingers": "HP:0001167", + "Abnormality of finger": "HP:0001167", + "Broad palm": "HP:0001169", + "Broad hand": "HP:0001169", + "Broad hands": "HP:0001169", + "Wide palm": "HP:0001169", + "Split hand": "HP:0001171", + "Ectrodactyly of the hand": "HP:0001171", + "Hand ectrodactyly": "HP:0001171", + "Split-hand": "HP:0001171", + "Abnormal thumb morphology": "HP:0001172", + "Abnormality of the thumb": "HP:0001172", + "Abnormality of the thumbs": "HP:0001172", + "Thumb deformity": "HP:0001172", + "Large hands": "HP:0001176", + "Disproportionately large hands": "HP:0001176", + "large hand": "HP:0001176", + "Preaxial hand polydactyly": "HP:0001177", + "Extra thumb": "HP:0001177", + "Polydactyly affecting the thumb": "HP:0001177", + "Preaxial polydactyly of hands": "HP:0001177", + "Supernumerary thumb": "HP:0001177", + "thumb polydactyly": "HP:0001177", + "Ulnar claw": "HP:0001178", + "obsolete Hand oligodactyly": "HP:0001180", + "Adducted thumb": "HP:0001181", + "Adducted thumbs": "HP:0001181", + "Inward turned thumb": "HP:0001181", + "Thumb-in-palm deformity": "HP:0001181", + "Thumb-in-palm pattern": "HP:0001181", + "Tapered finger": "HP:0001182", + "Distally tapering fingers": "HP:0001182", + "Tapered fingertips": "HP:0001182", + "Tapering fingers": "HP:0001182", + "Tapered fingers": "HP:0001182", + "Hyperextensibility of the finger joints": "HP:0001187", + "Finger joint hyperextensibility": "HP:0001187", + "Hyperextensible digits": "HP:0001187", + "Hyperextensible finger": "HP:0001187", + "Hyperextensible fingers": "HP:0001187", + "Hand clenching": "HP:0001188", + "Clenched hand": "HP:0001188", + "Clenched hands": "HP:0001188", + "Fisted hand": "HP:0001188", + "Fisting": "HP:0001188", + "Hands fisted": "HP:0001188", + "Hands tightly fisted": "HP:0001188", + "Thumb clasp": "HP:0001188", + "Abnormal carpal morphology": "HP:0001191", + "Abnormal wrist bones": "HP:0001191", + "Abnormal carpal bones": "HP:0001191", + "Abnormality of the carpal bones": "HP:0001191", + "Anomalous carpal bones": "HP:0001191", + "Carpal bone anomalies": "HP:0001191", + "Ulnar deviation of the hand or of fingers of the hand": "HP:0001193", + "Abnormalities of placenta or umbilical cord": "HP:0001194", + "Single umbilical artery": "HP:0001195", + "2 vessel cord": "HP:0001195", + "2 vessel umbilical cord": "HP:0001195", + "Only one artery in umbilical cord instead of two": "HP:0001195", + "SUA": "HP:0001195", + "Two vessel cord": "HP:0001195", + "Two vessel umbilical cord": "HP:0001195", + "Two-vessel cord": "HP:0001195", + "Short umbilical cord": "HP:0001196", + "Abnormality of prenatal development or birth": "HP:0001197", + "Triphalangeal thumb": "HP:0001199", + "Accessory phalanx of the thumb": "HP:0001199", + "Digitalized thumb": "HP:0001199", + "Finger-like thumb": "HP:0001199", + "Triphalangeal thumbs": "HP:0001199", + "Triphalangy of thumb": "HP:0001199", + "Distal symphalangism of hands": "HP:0001204", + "Fused outermost bones of hand": "HP:0001204", + "Symphalangism affecting the distal phalanges of the hand": "HP:0001204", + "Synostosis of distal phalanges": "HP:0001204", + "Terminal symphalangism": "HP:0001204", + "Abnormal fingertip morphology": "HP:0001211", + "Abnormality of the fingertips": "HP:0001211", + "Prominent fingertip pads": "HP:0001212", + "Persistence of fingerpads": "HP:0001212", + "Persistent fetal fingertip pads": "HP:0001212", + "Persistent foetal fingertip pads": "HP:0001212", + "Prominent finger pads": "HP:0001212", + "Camptodactyly of 2nd-5th fingers": "HP:0001215", + "Delayed ossification of carpal bones": "HP:0001216", + "Carpal delayed ossification": "HP:0001216", + "Delayed carpal bone age": "HP:0001216", + "Delayed carpal ossification": "HP:0001216", + "Delayed maturation of carpal bones": "HP:0001216", + "Delayed maturation of wrist bone": "HP:0001216", + "Clubbing": "HP:0001217", + "Clubbing of fingers and toes": "HP:0001217", + "Digital clubbing": "HP:0001217", + "Autoamputation": "HP:0001218", + "Interphalangeal joint contracture of finger": "HP:0001220", + "Interphalangeal joint flexion contractures": "HP:0001220", + "Spatulate thumbs": "HP:0001222", + "Spoon shaped thumbs": "HP:0001222", + "Pointed proximal second through fifth metacarpals": "HP:0001223", + "Wrist swelling": "HP:0001225", + "obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits": "HP:0001226", + "Abnormality of the thenar eminence": "HP:0001227", + "Thenar abnormality": "HP:0001227", + "Broad metacarpals": "HP:0001230", + "Wide long bones of hand": "HP:0001230", + "Wide metacarpals": "HP:0001230", + "Abnormal fingernail morphology": "HP:0001231", + "Abnormal fingernails": "HP:0001231", + "Abnormality of the fingernails": "HP:0001231", + "Nail bed telangiectasia": "HP:0001232", + "Nail bed telangiectases": "HP:0001232", + "2-3 finger cutaneous syndactyly": "HP:0001233", + "Syndactyly 2nd-3rd fingers": "HP:0001233", + "Syndactyly, 2-3 finger": "HP:0001233", + "Webbed 2nd-3rd fingers": "HP:0001233", + "Hitchhiker thumb": "HP:0001234", + "Abducted thumb": "HP:0001234", + "Slender finger": "HP:0001238", + "Narrow fingers": "HP:0001238", + "Slender fingers": "HP:0001238", + "thin fingers": "HP:0001238", + "Wrist flexion contracture": "HP:0001239", + "Wrist contracture": "HP:0001239", + "Wrist flexion deformity": "HP:0001239", + "Capitate-hamate fusion": "HP:0001241", + "Capitate-hamate fusions": "HP:0001241", + "Fused capitate and hamate": "HP:0001241", + "Fusion of capitate and hamate": "HP:0001241", + "Fusion of hamate and capitate": "HP:0001241", + "Small thenar eminence": "HP:0001245", + "Decreased thenar eminence": "HP:0001245", + "Hypoplastic thenar eminences": "HP:0001245", + "Thenar hypoplasia": "HP:0001245", + "Thenar muscle hypoplasia": "HP:0001245", + "Short tubular bones of the hand": "HP:0001248", + "Long bone shortening of the hand": "HP:0001248", + "Short long bones of the hand": "HP:0001248", + "Shortened long tubular bones of the hand": "HP:0001248", + "Shortened tubular bones of the hand": "HP:0001248", + "Intellectual disability": "HP:0001249", + "Mental deficiency": "HP:0001249", + "Mental retardation": "HP:0001249", + "Mental retardation, nonspecific": "HP:0001249", + "Mental-retardation": "HP:0001249", + "Nonprogressive intellectual disability": "HP:0001249", + "Nonprogressive mental retardation": "HP:0001249", + "Dull intelligence": "HP:0001249", + "Low intelligence": "HP:0001249", + "Poor school performance": "HP:0001249", + "Seizure": "HP:0001250", + "Epileptic seizure": "HP:0001250", + "Seizures": "HP:0001250", + "Epilepsy": "HP:0001250", + "Ataxia": "HP:0001251", + "Cerebellar ataxia": "HP:0001251", + "Hypotonia": "HP:0001252", + "Low muscle tone": "HP:0001252", + "Low or weak muscle tone": "HP:0001252", + "Muscle hypotonia": "HP:0001252", + "Muscular hypotonia": "HP:0001252", + "Central hypotonia": "HP:0001252", + "Peripheral hypotonia": "HP:0001252", + "Lethargy": "HP:0001254", + "Dullness": "HP:0001254", + "Inaction": "HP:0001254", + "Inactivity": "HP:0001254", + "Languor": "HP:0001254", + "Slowness": "HP:0001254", + "Torpor": "HP:0001254", + "Intellectual disability, mild": "HP:0001256", + "Mental retardation, borderline-mild": "HP:0001256", + "Mild and nonprogressive mental retardation": "HP:0001256", + "Mild mental retardation": "HP:0001256", + "Mental retardation, mild": "HP:0001256", + "Spasticity": "HP:0001257", + "Involuntary muscle stiffness, contraction, or spasm": "HP:0001257", + "Muscle spasticity": "HP:0001257", + "Muscular spasticity": "HP:0001257", + "Spastic paraplegia": "HP:0001258", + "Spastic paraplegia, lower limb": "HP:0001258", + "Coma": "HP:0001259", + "Persistent vegetative state": "HP:0001259", + "Stupor": "HP:0001259", + "Unconsciousness": "HP:0001259", + "Trance": "HP:0001259", + "Dysarthria": "HP:0001260", + "Difficulty articulating speech": "HP:0001260", + "Dysarthric speech": "HP:0001260", + "Excessive daytime somnolence": "HP:0001262", + "Excessive daytime sleepiness": "HP:0001262", + "More than typical sleepiness during day": "HP:0001262", + "Global developmental delay": "HP:0001263", + "Delayed cognitive development": "HP:0001263", + "Delayed development": "HP:0001263", + "Delayed developmental milestones": "HP:0001263", + "Delayed intellectual development": "HP:0001263", + "Delayed milestones": "HP:0001263", + "Delayed psychomotor development": "HP:0001263", + "Developmental delay": "HP:0001263", + "Developmental delay in early childhood": "HP:0001263", + "Developmental delay, global": "HP:0001263", + "Developmental retardation": "HP:0001263", + "GDD": "HP:0001263", + "Lack of psychomotor development": "HP:0001263", + "Motor and developmental delay": "HP:0001263", + "Motormental retardation": "HP:0001263", + "Psychomotor delay": "HP:0001263", + "Psychomotor development deficiency": "HP:0001263", + "Psychomotor development failure": "HP:0001263", + "Psychomotor developmental delay": "HP:0001263", + "Retarded development": "HP:0001263", + "Retarded mental development": "HP:0001263", + "Retarded psychomotor development": "HP:0001263", + "Cognitive delay": "HP:0001263", + "Mental and motor retardation": "HP:0001263", + "Spastic diplegia": "HP:0001264", + "Spastic diparesis": "HP:0001264", + "Spastic diplegic": "HP:0001264", + "Hyporeflexia": "HP:0001265", + "Decreased reflex response": "HP:0001265", + "Decreased reflexes": "HP:0001265", + "Choreoathetosis": "HP:0001266", + "Choreoathetoid movements": "HP:0001266", + "Mental deterioration": "HP:0001268", + "Cognitive decline": "HP:0001268", + "Cognitive decline, progressive": "HP:0001268", + "Intellectual deterioration": "HP:0001268", + "Progressive cognitive decline": "HP:0001268", + "Hemiparesis": "HP:0001269", + "Weakness of one side of body": "HP:0001269", + "Motor delay": "HP:0001270", + "Delay in development of motor milestones": "HP:0001270", + "Delay in motor development": "HP:0001270", + "Delayed development of motor milestones": "HP:0001270", + "Delayed early motor milestones": "HP:0001270", + "Delayed motor development": "HP:0001270", + "Delayed motor milestones": "HP:0001270", + "Locomotor delay": "HP:0001270", + "Motor developmental delay": "HP:0001270", + "Motor developmental milestones not achieved": "HP:0001270", + "Motor retardation": "HP:0001270", + "Retarded motor development": "HP:0001270", + "Slow development of motor milestones": "HP:0001270", + "No development of motor milestones": "HP:0001270", + "Polyneuropathy": "HP:0001271", + "Peripheral nerve disease": "HP:0001271", + "Cerebellar atrophy": "HP:0001272", + "Atrophic cerebellum": "HP:0001272", + "Degeneration of cerebellum": "HP:0001272", + "Infratentorial atrophy": "HP:0001272", + "Abnormal corpus callosum morphology": "HP:0001273", + "Abnormal corpus callosum": "HP:0001273", + "Abnormality of the corpus callosum": "HP:0001273", + "Corpus callosum abnormality": "HP:0001273", + "Agenesis of corpus callosum": "HP:0001274", + "Absence of corpus callosum": "HP:0001274", + "Absent corpus callosum": "HP:0001274", + "Agenesis of the corpus callosum": "HP:0001274", + "Callosal agenesis": "HP:0001274", + "Corpus callosum agenesis": "HP:0001274", + "Dysplastic or absent corpus callosum": "HP:0001274", + "Hypertonia": "HP:0001276", + "Hypertonicity": "HP:0001276", + "Increased muscle tone": "HP:0001276", + "Spasticity and rigidity of muscles": "HP:0001276", + "Muscle hypertonia": "HP:0001276", + "Orthostatic hypotension": "HP:0001278", + "Decrease in blood pressure upon standing up": "HP:0001278", + "Postural hypotension": "HP:0001278", + "Syncope": "HP:0001279", + "Fainting spell": "HP:0001279", + "Tetany": "HP:0001281", + "Intermittent involuntary muscle spasm": "HP:0001281", + "Bulbar palsy": "HP:0001283", + "Bulbar muscle weakness": "HP:0001283", + "Bulbar palsies": "HP:0001283", + "Bulbar weakness": "HP:0001283", + "Areflexia": "HP:0001284", + "Absent reflexes": "HP:0001284", + "Absent deep tendon reflexes": "HP:0001284", + "Absent tendon reflexes": "HP:0001284", + "Deep tendon reflexes absent": "HP:0001284", + "Loss of deep tendon reflexes": "HP:0001284", + "Lost deep tendon reflexes": "HP:0001284", + "Spastic tetraparesis": "HP:0001285", + "Spastic quadriparesis": "HP:0001285", + "Meningitis": "HP:0001287", + "Gait disturbance": "HP:0001288", + "Abnormal gait": "HP:0001288", + "Abnormal walk": "HP:0001288", + "Difficulty in walking": "HP:0001288", + "Gait abnormalities": "HP:0001288", + "Gait difficulties": "HP:0001288", + "Gait disturbances": "HP:0001288", + "Impaired gait": "HP:0001288", + "Walking disability": "HP:0001288", + "Confusion": "HP:0001289", + "Disorientation": "HP:0001289", + "Easily confused": "HP:0001289", + "Mental disorientation": "HP:0001289", + "Generalized hypotonia": "HP:0001290", + "Generalised decreased muscle tone": "HP:0001290", + "Generalised hypotonia": "HP:0001290", + "Generalised muscular hypotonia": "HP:0001290", + "Generalized decreased muscle tone": "HP:0001290", + "Generalized muscular hypotonia": "HP:0001290", + "Hypotonia, generalised": "HP:0001290", + "Hypotonia, generalized": "HP:0001290", + "Abnormal cranial nerve morphology": "HP:0001291", + "Abnormality of cranial nerve": "HP:0001291", + "Abnormality of the cranial nerves": "HP:0001291", + "Cranial nerve disease": "HP:0001291", + "Cranial nerve involvement": "HP:0001291", + "Cranial nerve abnormality": "HP:0001291", + "Cranial nerve compression": "HP:0001293", + "Stroke": "HP:0001297", + "Cerebral vascular events": "HP:0001297", + "Cerebrovascular accident": "HP:0001297", + "Cerebrovascular accidents": "HP:0001297", + "Encephalopathy": "HP:0001298", + "Parkinsonism": "HP:0001300", + "Parkinsonian disease": "HP:0001300", + "Chronic sensorineural polyneuropathy": "HP:0001301", + "Pachygyria": "HP:0001302", + "Cerebral pachygyria": "HP:0001302", + "Fewer and broader ridges in brain": "HP:0001302", + "Macrogyria": "HP:0001302", + "Torsion dystonia": "HP:0001304", + "Dystonia musculorum deformans": "HP:0001304", + "Dandy-Walker malformation": "HP:0001305", + "Dandy-Walker cyst": "HP:0001305", + "Dandy-walker anomaly": "HP:0001305", + "Tongue fasciculations": "HP:0001308", + "Lingual fasciculations": "HP:0001308", + "Lingual fibrillations": "HP:0001308", + "Lingual twitching": "HP:0001308", + "Tongue fasciculation": "HP:0001308", + "Tongue fasciculations/fibrillations": "HP:0001308", + "Tongue twitching": "HP:0001308", + "Twitching of the tongue": "HP:0001308", + "Dysmetria": "HP:0001310", + "Lack of coordination of movement": "HP:0001310", + "Abnormal finger chase test": "HP:0001310", + "Abnormal finger-nose-finger test": "HP:0001310", + "Abnormal nervous system electrophysiology": "HP:0001311", + "Neurophysiologic abnormalities": "HP:0001311", + "Neurophysiologic abnormality": "HP:0001311", + "Giant somatosensory evoked potentials": "HP:0001312", + "Giant SEPS": "HP:0001312", + "Reduced tendon reflexes": "HP:0001315", + "Absent or decreased deep tendon reflexes": "HP:0001315", + "Decreased deep tendon reflexes": "HP:0001315", + "Decreased tendon reflexes": "HP:0001315", + "Decreased to absent deep tendon reflexes": "HP:0001315", + "Decreased/absent deep tendon reflexes": "HP:0001315", + "Depressed tendon reflexes": "HP:0001315", + "Diminished deep tendon reflexes": "HP:0001315", + "Diminished or absent deep tendon reflexes": "HP:0001315", + "Diminished or absent tendon reflexes": "HP:0001315", + "Hypoactive to absent deep tendon reflexes": "HP:0001315", + "Impaired tendon reflexes": "HP:0001315", + "Reduced/absent deep tendon reflexes": "HP:0001315", + "Weak or absent deep tendon reflexes": "HP:0001315", + "Abnormal cerebellum morphology": "HP:0001317", + "Abnormality of the cerebellum": "HP:0001317", + "Cerebellar abnormalities": "HP:0001317", + "Cerebellar abnormality": "HP:0001317", + "Cerebellar anomaly": "HP:0001317", + "Cerebellar signs": "HP:0001317", + "Neonatal hypotonia": "HP:0001319", + "Hypotonia, in neonatal onset": "HP:0001319", + "Hypotonia, neonatal": "HP:0001319", + "Low muscle tone, in neonatal onset": "HP:0001319", + "Congenital hypotonia": "HP:0001319", + "Cerebellar vermis hypoplasia": "HP:0001320", + "Cerebellar vermal hypoplasia": "HP:0001320", + "Hypoplasia of the cerebellar vermis": "HP:0001320", + "Hypoplastic cerebellar vermis": "HP:0001320", + "Cerebellar hypoplasia": "HP:0001321", + "Congenital cerebellar hypoplasia": "HP:0001321", + "Hypoplasia of cerebellum": "HP:0001321", + "Hypoplastic cerebellum": "HP:0001321", + "Small cerebellum": "HP:0001321", + "Underdeveloped cerebellum": "HP:0001321", + "obsolete Brain very small": "HP:0001322", + "Muscle weakness": "HP:0001324", + "Muscular weakness": "HP:0001324", + "Hypoglycemic coma": "HP:0001325", + "Coma caused by low blood sugar": "HP:0001325", + "Coma, hypoglycemic": "HP:0001325", + "Hypoglycaemic coma": "HP:0001325", + "Loss of consciousness due to hypoglycemia": "HP:0001325", + "EEG with irregular generalized spike and wave complexes": "HP:0001326", + "EEG with irregular generalised spike and wave complexes": "HP:0001326", + "Photosensitive myoclonic seizure": "HP:0001327", + "Photically induced myoclonic seizure": "HP:0001327", + "Photomyoclonic seizure": "HP:0001327", + "Photomyoclonic seizures": "HP:0001327", + "Specific learning disability": "HP:0001328", + "Absent septum pellucidum": "HP:0001331", + "Absence of septum pellucidum": "HP:0001331", + "Absence of the septum pellucidum": "HP:0001331", + "Agenesis of the septum pellucidum": "HP:0001331", + "Missing septum pellucidum": "HP:0001331", + "Dystonia": "HP:0001332", + "Dystonic movements": "HP:0001332", + "Dystonic disease": "HP:0001332", + "Communicating hydrocephalus": "HP:0001334", + "Bimanual synkinesia": "HP:0001335", + "Hand mirror movements": "HP:0001335", + "Mirror hand movements": "HP:0001335", + "Mirror movements": "HP:0001335", + "Myoclonus": "HP:0001336", + "Jerking": "HP:0001336", + "Myoclonic jerks": "HP:0001336", + "Involuntary jerking movements": "HP:0001336", + "Tremor": "HP:0001337", + "Tremors": "HP:0001337", + "Partial agenesis of the corpus callosum": "HP:0001338", + "Corpus callosum agenesis, partial": "HP:0001338", + "Partial agenesis of corpus callosum": "HP:0001338", + "Partial corpus callosum agenesis": "HP:0001338", + "Partial or complete agenesis of corpus callosum": "HP:0001338", + "Partial to complete agenesis of corpus callosum": "HP:0001338", + "Partial-total agenesis of corpus callosum": "HP:0001338", + "Partial or complete agenesis of the corpus callosum": "HP:0001338", + "Lissencephaly": "HP:0001339", + "Fewer or absent grooves in brain": "HP:0001339", + "Enhancement of the C-reflex": "HP:0001340", + "Olfactory lobe agenesis": "HP:0001341", + "Olfactory lobe absence": "HP:0001341", + "Cerebral hemorrhage": "HP:0001342", + "Bleeding in brain": "HP:0001342", + "Cerebral haemorrhage": "HP:0001342", + "Intracerebral haemorrhage": "HP:0001342", + "Intracerebral hemorrhage": "HP:0001342", + "Hemorrhagic stroke": "HP:0001342", + "Kernicterus": "HP:0001343", + "Absent speech": "HP:0001344", + "Absent speech development": "HP:0001344", + "Lack of language development": "HP:0001344", + "Lack of speech": "HP:0001344", + "No speech development": "HP:0001344", + "No speech or language development": "HP:0001344", + "Nonverbal": "HP:0001344", + "Psychotic mentation": "HP:0001345", + "Hyperreflexia": "HP:0001347", + "Increased deep tendon reflexes": "HP:0001347", + "Increased reflexes": "HP:0001347", + "Brisk reflexes": "HP:0001348", + "Brisk deep tendon reflexes": "HP:0001348", + "Facial diplegia": "HP:0001349", + "Bilateral facial weakness": "HP:0001349", + "Facial paresis, bilateral": "HP:0001349", + "Slurred speech": "HP:0001350", + "Jerk-locked premyoclonus spikes": "HP:0001351", + "Megalencephaly": "HP:0001355", + "Enlarged brain": "HP:0001355", + "Macrencephaly": "HP:0001355", + "Plagiocephaly": "HP:0001357", + "Asymmetry of the posterior cranium": "HP:0001357", + "Asymmetry of the posterior head": "HP:0001357", + "Asymmetry of the posterior skull": "HP:0001357", + "Flat head": "HP:0001357", + "Rhomboid shaped head": "HP:0001357", + "Flat head syndrome": "HP:0001357", + "Flattening of cranial vault": "HP:0001357", + "Flattening of cranium": "HP:0001357", + "Flattening of skull": "HP:0001357", + "Rhomboid shaped cranium": "HP:0001357", + "Rhomboid shaped skull": "HP:0001357", + "Deformational plagiocephaly": "HP:0001357", + "Flattening of head": "HP:0001357", + "Positional plagiocephaly": "HP:0001357", + "Holoprosencephaly": "HP:0001360", + "Single brain ventricle": "HP:0001360", + "Nystagmus-induced head nodding": "HP:0001361", + "Calvarial skull defect": "HP:0001362", + "Cranial defect": "HP:0001362", + "Skull defect": "HP:0001362", + "Calvarial defect": "HP:0001362", + "Craniosynostosis": "HP:0001363", + "Deformity of the skull": "HP:0001363", + "Cranial suture synostosis": "HP:0001363", + "Craniosyostosis": "HP:0001363", + "Early fusion of cranial sutures": "HP:0001363", + "Premature closure of cranial sutures": "HP:0001363", + "Premature suture closure": "HP:0001363", + "Craniostenosis": "HP:0001363", + "Abnormal joint morphology": "HP:0001367", + "Abnormal shape of joints": "HP:0001367", + "Abnormality of the joints": "HP:0001367", + "Anomaly of the joints": "HP:0001367", + "Joint disease": "HP:0001367", + "Arthritis": "HP:0001369", + "Joint inflammation": "HP:0001369", + "Rheumatoid arthritis": "HP:0001370", + "RA": "HP:0001370", + "Flexion contracture": "HP:0001371", + "Flexed joint that cannot be straightened": "HP:0001371", + "Flexion contractures": "HP:0001371", + "Flexion contractures of joints": "HP:0001371", + "Joint dislocation": "HP:0001373", + "Joint dislocations": "HP:0001373", + "Congenital hip dislocation": "HP:0001374", + "Congenital dislocation of the hip": "HP:0001374", + "Congenital dislocation of the hips": "HP:0001374", + "Congenital hip anomaly": "HP:0001374", + "Congenital hip dislocations": "HP:0001374", + "Dislocated hip since birth": "HP:0001374", + "Limitation of joint mobility": "HP:0001376", + "Decreased joint mobility": "HP:0001376", + "Decreased mobility of joints": "HP:0001376", + "Limited joint mobility": "HP:0001376", + "Limited joint motion": "HP:0001376", + "Limited elbow extension": "HP:0001377", + "Decreased elbow extension": "HP:0001377", + "Elbow limited extension": "HP:0001377", + "Limitation of elbow extension": "HP:0001377", + "Limited extension at elbows": "HP:0001377", + "Limited forearm extension": "HP:0001377", + "Restricted elbow extension": "HP:0001377", + "obsolete Degenerative joint disease": "HP:0001379", + "obsolete Ligamentous laxity": "HP:0001380", + "Joint hypermobility": "HP:0001382", + "Double-Jointed": "HP:0001382", + "Extensible joints": "HP:0001382", + "Flexible joints": "HP:0001382", + "Hyperextensible joints": "HP:0001382", + "Increased joint mobility": "HP:0001382", + "Increased mobility of joints": "HP:0001382", + "Joint hyperextensibility": "HP:0001382", + "Joint hyperflexibility": "HP:0001382", + "Joint hyperlaxity": "HP:0001382", + "Joint laxity": "HP:0001382", + "Joints move beyond expected range of motion": "HP:0001382", + "Lax joints": "HP:0001382", + "Loose-jointedness": "HP:0001382", + "Joint instability": "HP:0001382", + "Joint ligamentous laxity": "HP:0001382", + "Ligamentous laxity": "HP:0001382", + "Abnormal hip joint morphology": "HP:0001384", + "Abnormality of the hip joint": "HP:0001384", + "Abnormality of the hip joints": "HP:0001384", + "Hip dysplasia": "HP:0001385", + "Abnormal formation of the hip": "HP:0001385", + "Congenital hip dysplasia": "HP:0001385", + "DDH": "HP:0001385", + "Developmental dysplasia of the hip": "HP:0001385", + "Joint swelling": "HP:0001386", + "Joint stiffness": "HP:0001387", + "Stiff joint": "HP:0001387", + "Stiff joints": "HP:0001387", + "obsolete Joint laxity": "HP:0001388", + "Abnormality of the liver": "HP:0001392", + "Abnormal liver": "HP:0001392", + "Liver abnormality": "HP:0001392", + "Liver disease": "HP:0001392", + "Cirrhosis": "HP:0001394", + "Hepatic cirrhosis": "HP:0001394", + "Scar tissue replaces healthy tissue in the liver": "HP:0001394", + "Liver cirrhosis": "HP:0001394", + "Hepatic fibrosis": "HP:0001395", + "Liver fibrosis": "HP:0001395", + "Cholestasis": "HP:0001396", + "Slowed or blocked flow of bile from liver": "HP:0001396", + "Hepatic steatosis": "HP:0001397", + "Fatty infiltration of liver": "HP:0001397", + "Fatty liver": "HP:0001397", + "Liver steatosis": "HP:0001397", + "Steatosis": "HP:0001397", + "Hepatic failure": "HP:0001399", + "Hepatic insufficiency": "HP:0001399", + "Liver failure": "HP:0001399", + "obsolete Hepatic abscesses due to immunodeficiency": "HP:0001400", + "Intrahepatic biliary dysgenesis": "HP:0001401", + "Hepatocellular carcinoma": "HP:0001402", + "Increased hepatocellular carcinoma risk": "HP:0001402", + "Increased incidence of hepatocellular carcinoma": "HP:0001402", + "Macrovesicular hepatic steatosis": "HP:0001403", + "Macrovesicular steatosis": "HP:0001403", + "Hepatocellular necrosis": "HP:0001404", + "Death of liver cells": "HP:0001404", + "Hepatocellular loss": "HP:0001404", + "Periportal fibrosis": "HP:0001405", + "Intrahepatic cholestasis": "HP:0001406", + "Impaired release of bile from liver": "HP:0001406", + "Hepatic cysts": "HP:0001407", + "Liver cysts": "HP:0001407", + "Bile duct proliferation": "HP:0001408", + "Proliferation of bile canaliculi": "HP:0001408", + "Portal hypertension": "HP:0001409", + "Decreased liver function": "HP:0001410", + "Liver dysfunction": "HP:0001410", + "Hepatopathy": "HP:0001410", + "Liver dysfunction, mild": "HP:0001410", + "Enteroviral hepatitis": "HP:0001412", + "Micronodular cirrhosis": "HP:0001413", + "Microvesicular hepatic steatosis": "HP:0001414", + "Microvesicular steatosis": "HP:0001414", + "X-linked inheritance": "HP:0001417", + "X-linked": "HP:0001417", + "monoallelic_X_hemizygous": "HP:0001417", + "X-linked form": "HP:0001417", + "X-linked recessive inheritance": "HP:0001419", + "X-linked recessive": "HP:0001419", + "Abnormality of the musculature of the hand": "HP:0001421", + "Abnormal hand muscles": "HP:0001421", + "X-linked dominant inheritance": "HP:0001423", + "X-linked dominant": "HP:0001423", + "obsolete Heterogeneous": "HP:0001425", + "Genetic heterogeneity": "HP:0001425", + "Non-Mendelian inheritance": "HP:0001426", + "Familial predisposition": "HP:0001426", + "Mitochondrial inheritance": "HP:0001427", + "Mitochondrial": "HP:0001427", + "mitochondrial": "HP:0001427", + "obsolete Somatic mutation": "HP:0001428", + "Abnormal calf musculature morphology": "HP:0001430", + "Abnormal calf muscles": "HP:0001430", + "Abnormality of calf musculature": "HP:0001430", + "Hepatosplenomegaly": "HP:0001433", + "Enlarged liver and spleen": "HP:0001433", + "Abnormality of the shoulder girdle musculature": "HP:0001435", + "Abnormality of shoulder musculature": "HP:0001435", + "Abnormality of the foot musculature": "HP:0001436", + "Abnormal foot muscles": "HP:0001436", + "Abnormality of the musculature of the lower limbs": "HP:0001437", + "Abnormal abdomen morphology": "HP:0001438", + "Abnormality of abdomen morphology": "HP:0001438", + "Abnormality of abdomen structure": "HP:0001438", + "Abnormality of the abdomen": "HP:0001438", + "Abdomen abnormality": "HP:0001438", + "Metatarsal synostosis": "HP:0001440", + "Fusion of metatarsals": "HP:0001440", + "Fusion of the long bones of the feet": "HP:0001440", + "Synostosis involving metatarsal bones": "HP:0001440", + "Abnormality thigh musculature morphology": "HP:0001441", + "Abnormal thigh muscles": "HP:0001441", + "Abnormality of the musculature of the thigh": "HP:0001441", + "Typified by somatic mosaicism": "HP:0001442", + "Autosomal dominant somatic cell mutation": "HP:0001442", + "Somatic mosaicism": "HP:0001442", + "Somatic mutation": "HP:0001442", + "Abnormality of the gluteal musculature": "HP:0001443", + "Abnormality of glutes": "HP:0001443", + "obsolete Autosomal dominant somatic cell mutation": "HP:0001444", + "Abnormality of the hip-girdle musculature": "HP:0001445", + "Abnormality of the musculature of the upper limbs": "HP:0001446", + "Abnormal upper limb muscles": "HP:0001446", + "Duplication of metatarsal bones": "HP:0001449", + "Duplication of long bones of foot": "HP:0001449", + "Y-linked inheritance": "HP:0001450", + "Y-linked": "HP:0001450", + "monoallelic_Y_hemizygous": "HP:0001450", + "obsolete Autosomal dominant contiguous gene syndrome": "HP:0001452", + "Abnormality of the upper arm": "HP:0001454", + "Abnormality of the musculature of the upper arm": "HP:0001457", + "1-3 toe syndactyly": "HP:0001459", + "Webbed 1st-3rd toes": "HP:0001459", + "Aplasia/Hypoplasia involving the skeletal musculature": "HP:0001460", + "Absent/small skeletal muscles": "HP:0001460", + "Absent/underdeveloped skeletal muscles": "HP:0001460", + "Aplasia/Hypoplasia involving the shoulder musculature": "HP:0001464", + "Absent/small shoulder muscles": "HP:0001464", + "Absent/underdeveloped shoulder muscles": "HP:0001464", + "Amyotrophy involving the shoulder musculature": "HP:0001465", + "Shoulder muscle degeneration": "HP:0001465", + "Wasting of shoulder muscles": "HP:0001465", + "Contiguous gene syndrome": "HP:0001466", + "Aplasia/Hypoplasia involving the musculature of the upper limbs": "HP:0001467", + "Absent/small upper limb muscles": "HP:0001467", + "Absent/underdeveloped upper limb muscles": "HP:0001467", + "Aplasia/Hypoplasia involving the musculature of the upper arm": "HP:0001468", + "Absent/small upper arm muscles": "HP:0001468", + "Absent/underdeveloped upper arm muscles": "HP:0001468", + "Abnormal morphology of the pelvis musculature": "HP:0001469", + "Abnormality of the musculature of the pelvis": "HP:0001469", + "Sex-limited expression": "HP:0001470", + "Aplasia/Hypoplasia of the musculature of the pelvis": "HP:0001471", + "Absent/small pelvis muscles": "HP:0001471", + "Absent/underdeveloped pelvis muscles": "HP:0001471", + "obsolete Familial predisposition": "HP:0001472", + "Metatarsal osteolysis": "HP:0001473", + "Osteolysis involving metatarsal bones": "HP:0001473", + "Sclerotic scapulae": "HP:0001474", + "Male-limited expression": "HP:0001475", + "Delayed closure of the anterior fontanelle": "HP:0001476", + "Delayed closure of the soft spot on the skull": "HP:0001476", + "Late closure of soft spot on the skull": "HP:0001476", + "Delayed closure anterior fontanel": "HP:0001476", + "Delayed closure of anterior fontanelle": "HP:0001476", + "Delayed closure of the bregma sutures": "HP:0001476", + "Late closure of anterior fontanelle": "HP:0001476", + "Late closure of large anterior fontanel": "HP:0001476", + "Late closure of the bregma sutures": "HP:0001476", + "Later than typical closing of soft spot of skull": "HP:0001476", + "Persistent anterior fontanelle": "HP:0001476", + "Compensatory chin elevation": "HP:0001477", + "Compensatory head tilt/chin elevation": "HP:0001477", + "Freckling": "HP:0001480", + "Subcutaneous nodule": "HP:0001482", + "Nodule below the skin": "HP:0001482", + "Firm lump under the skin": "HP:0001482", + "Growth of abnormal tissue under the skin": "HP:0001482", + "Multiple, subcutaneous nodules": "HP:0001482", + "Subcutaneous nodules": "HP:0001482", + "Eye poking": "HP:0001483", + "Blindism": "HP:0001483", + "Eye pressing": "HP:0001483", + "Ocular auto-stimulation": "HP:0001483", + "Oculodigital phenomenon": "HP:0001483", + "obsolete Hypopigmented fundi": "HP:0001487", + "Bilateral ptosis": "HP:0001488", + "Drooping of both upper eyelids": "HP:0001488", + "Posterior vitreous detachment": "HP:0001489", + "Vitreous detachment": "HP:0001489", + "Congenital fibrosis of extraocular muscles": "HP:0001491", + "CFEOM": "HP:0001491", + "Congenital fibrosis of the extraocular muscles": "HP:0001491", + "Congenital ophthalmoplegia": "HP:0001491", + "Axenfeld anomaly": "HP:0001492", + "Falciform retinal fold": "HP:0001493", + "Congenital retinal fold": "HP:0001493", + "Carpal osteolysis": "HP:0001495", + "Carpal bone osteolysis": "HP:0001495", + "Carpal bone hypoplasia": "HP:0001498", + "Small wrist bones": "HP:0001498", + "Hypoplasia of carpal bones": "HP:0001498", + "Hypoplastic carpal bones": "HP:0001498", + "Small carpal bones": "HP:0001498", + "Small carpals": "HP:0001498", + "Broad finger": "HP:0001500", + "Broad fingers": "HP:0001500", + "Wide fingers": "HP:0001500", + "6 metacarpals": "HP:0001501", + "6 long bones of hand": "HP:0001501", + "Metacarpal osteolysis": "HP:0001504", + "Metacarpals osteolysis": "HP:0001504", + "Growth abnormality": "HP:0001507", + "Abnormal growth": "HP:0001507", + "Growth issue": "HP:0001507", + "Failure to thrive": "HP:0001508", + "Undergrowth": "HP:0001508", + "FTT": "HP:0001508", + "Faltering weight": "HP:0001508", + "Postnatal failure to thrive": "HP:0001508", + "Weight faltering": "HP:0001508", + "Poor weight gain": "HP:0001508", + "Growth delay": "HP:0001510", + "Delayed growth": "HP:0001510", + "Growth deficiency": "HP:0001510", + "Growth failure": "HP:0001510", + "Growth retardation": "HP:0001510", + "Poor growth": "HP:0001510", + "Retarded growth": "HP:0001510", + "Very poor growth": "HP:0001510", + "Intrauterine growth retardation": "HP:0001511", + "FGR": "HP:0001511", + "Fetal growth restriction": "HP:0001511", + "IUGR": "HP:0001511", + "In utero growth retardation": "HP:0001511", + "Intrauterine growth failure": "HP:0001511", + "Intrauterine growth restriction": "HP:0001511", + "Intrauterine growth retardation, IUGR": "HP:0001511", + "Intrauterine retardation": "HP:0001511", + "Prenatal growth deficiency": "HP:0001511", + "Prenatal growth failure": "HP:0001511", + "Prenatal growth retardation": "HP:0001511", + "Prenatal onset growth retardation": "HP:0001511", + "Prenatal-onset growth retardation": "HP:0001511", + "Small for gestational age infant": "HP:0001511", + "Obesity": "HP:0001513", + "Having too much body fat": "HP:0001513", + "Small for gestational age": "HP:0001518", + "Birth weight less than 10th percentile": "HP:0001518", + "Low birth weight": "HP:0001518", + "Disproportionate tall stature": "HP:0001519", + "Dolichostenomelia": "HP:0001519", + "Marfanoid body habitus": "HP:0001519", + "Marfanoid habitus": "HP:0001519", + "Reduced upper-lower segment ratio": "HP:0001519", + "Large for gestational age": "HP:0001520", + "Birth weight > 90th percentile": "HP:0001520", + "Birthweight > 90th percentile": "HP:0001520", + "Fetal macrosomia": "HP:0001520", + "Foetal macrosomia": "HP:0001520", + "Macrosomia": "HP:0001520", + "Macrosomia, neonatal": "HP:0001520", + "Death in infancy": "HP:0001522", + "Infantile death": "HP:0001522", + "Lethal in infancy": "HP:0001522", + "Death in early childhood": "HP:0001522", + "Severe failure to thrive": "HP:0001525", + "Marked failure to thrive": "HP:0001525", + "Severe faltering weight": "HP:0001525", + "Severe postnatal failure to thrive": "HP:0001525", + "Severe weight faltering": "HP:0001525", + "Hemihypertrophy": "HP:0001528", + "Asymmetric limb hypertrophy": "HP:0001528", + "Asymmetric overgrowth": "HP:0001528", + "Mild postnatal growth retardation": "HP:0001530", + "Postnatal onset of mild growth retardation": "HP:0001530", + "Mild growth deficiency": "HP:0001530", + "Failure to thrive in infancy": "HP:0001531", + "Failure to thrive in first year of life": "HP:0001531", + "Faltering weight in infancy": "HP:0001531", + "Weight faltering in infancy": "HP:0001531", + "Slender build": "HP:0001533", + "Asthenic habitus": "HP:0001533", + "Thin body habitus": "HP:0001533", + "Thin build": "HP:0001533", + "Umbilical hernia": "HP:0001537", + "Umbilical hernias": "HP:0001537", + "Protuberant abdomen": "HP:0001538", + "Abdominal protuberance": "HP:0001538", + "Belly sticks out": "HP:0001538", + "Extended belly": "HP:0001538", + "Omphalocele": "HP:0001539", + "Exomphalos": "HP:0001539", + "Omphalocoele": "HP:0001539", + "Diastasis recti": "HP:0001540", + "Gap between large left and right abdominal muscles": "HP:0001540", + "Ascites": "HP:0001541", + "Accumulation of fluid in the abdomen": "HP:0001541", + "Peritoneal effusion": "HP:0001541", + "Gastroschisis": "HP:0001543", + "Prominent umbilicus": "HP:0001544", + "Prominent belly button": "HP:0001544", + "Prominent navel": "HP:0001544", + "Anteriorly placed anus": "HP:0001545", + "Anteriorly displaced anus": "HP:0001545", + "Anus anteposition": "HP:0001545", + "Abnormal rib cage morphology": "HP:0001547", + "Abnormality of the rib cage": "HP:0001547", + "Overgrowth": "HP:0001548", + "General overgrowth": "HP:0001548", + "Generalised overgrowth": "HP:0001548", + "Generalized overgrowth": "HP:0001548", + "Abnormal ileum morphology": "HP:0001549", + "Abnormality of the ileum": "HP:0001549", + "Abnormal umbilicus morphology": "HP:0001551", + "Abnormal belly button": "HP:0001551", + "Abnormal navel": "HP:0001551", + "Abnormal umbilicus": "HP:0001551", + "Barrel-shaped chest": "HP:0001552", + "Barrel chest": "HP:0001552", + "Asymmetry of the thorax": "HP:0001555", + "Asymmetric chest": "HP:0001555", + "Prenatal movement abnormality": "HP:0001557", + "Abnormal intrauterine movements": "HP:0001557", + "Decreased fetal movement": "HP:0001558", + "Decreased fetal activity": "HP:0001558", + "Decreased fetal movements": "HP:0001558", + "Decreased foetal activity": "HP:0001558", + "Decreased foetal movement": "HP:0001558", + "Decreased foetal movements": "HP:0001558", + "Decreased movement in utero": "HP:0001558", + "Dminished fetal movement": "HP:0001558", + "Dminished foetal movement": "HP:0001558", + "Fetal hypokinesia": "HP:0001558", + "Foetal hypokinesia": "HP:0001558", + "Less than 10 fetal movements in 12 hours": "HP:0001558", + "Less than 10 foetal movements in 12 hours": "HP:0001558", + "Reduced fetal movement": "HP:0001558", + "Reduced fetal movements": "HP:0001558", + "Reduced foetal movement": "HP:0001558", + "Reduced foetal movements": "HP:0001558", + "Abnormality of the amniotic fluid": "HP:0001560", + "Abnormal amniotic fluid": "HP:0001560", + "Polyhydramnios": "HP:0001561", + "High levels of amniotic fluid": "HP:0001561", + "Hydramnios": "HP:0001561", + "Increased amniotic fluid index": "HP:0001561", + "Oligohydramnios": "HP:0001562", + "Low levels of amniotic fluid": "HP:0001562", + "Maternal oligohydramnios": "HP:0001562", + "Decreased amniotic fluid index": "HP:0001562", + "Fetal polyuria": "HP:0001563", + "Foetal polyuria": "HP:0001563", + "Widely-spaced maxillary central incisors": "HP:0001566", + "Central incisor gap": "HP:0001566", + "Diastasis of the central incisors": "HP:0001566", + "Gap between upper front teeth": "HP:0001566", + "Separated superior central incisors": "HP:0001566", + "Wide gap between upper central incisors": "HP:0001566", + "Wide upper central incisors": "HP:0001566", + "Widely spaced upper incisors": "HP:0001566", + "Diastema between maxillary central incisors": "HP:0001566", + "Diastema between upper front teeth": "HP:0001566", + "Diastema between upper incisors": "HP:0001566", + "Multiple impacted teeth": "HP:0001571", + "Multiple buried teeth": "HP:0001571", + "Multiple retained teeth": "HP:0001571", + "Impacted teeth": "HP:0001571", + "Macrodontia": "HP:0001572", + "Hyperplasia of tooth": "HP:0001572", + "Hypertrophy of tooth": "HP:0001572", + "Increased size of tooth": "HP:0001572", + "Increased width of tooth": "HP:0001572", + "Large tooth": "HP:0001572", + "Megalodontia": "HP:0001572", + "Tooth mass excess": "HP:0001572", + "Abnormality of the integument": "HP:0001574", + "obsolete Mood changes": "HP:0001575", + "Primary hypercortisolism": "HP:0001579", + "ACTH-independent hypercortisolemia": "HP:0001579", + "Pigmented micronodular adrenocortical disease": "HP:0001580", + "Recurrent skin infections": "HP:0001581", + "Cutaneous infections": "HP:0001581", + "Skin infections, recurrent": "HP:0001581", + "Redundant skin": "HP:0001582", + "Loose redundant skin": "HP:0001582", + "Redundant skin folds": "HP:0001582", + "Sagging, redundant skin": "HP:0001582", + "Rotary nystagmus": "HP:0001583", + "Rotatory Nystagmus": "HP:0001583", + "Vesicovaginal fistula": "HP:0001586", + "obsolete Primary ovarian failure": "HP:0001587", + "Bell-shaped thorax": "HP:0001591", + "Bell-shaped chest": "HP:0001591", + "Constricted, bell-shaped thorax": "HP:0001591", + "Narrow, bell-shaped thorax": "HP:0001591", + "Selective tooth agenesis": "HP:0001592", + "Agenesis of a tooth": "HP:0001592", + "Failure of development of a tooth": "HP:0001592", + "Absence of a tooth": "HP:0001592", + "Missing a tooth": "HP:0001592", + "Maxillary lateral incisor microdontia": "HP:0001593", + "Decreased size of maxillary lateral incisor": "HP:0001593", + "Decreased size of upper lateral incisor": "HP:0001593", + "Hypotrophic maxillary lateral incisor": "HP:0001593", + "Hypotrophic upper lateral incisor": "HP:0001593", + "Small maxillary lateral incisor": "HP:0001593", + "Small upper lateral incisor": "HP:0001593", + "Decreased width of upper lateral incisor": "HP:0001593", + "Abnormal hair morphology": "HP:0001595", + "Abnormality of the hair": "HP:0001595", + "Hair abnormality": "HP:0001595", + "Abnormality of the hair shaft": "HP:0001595", + "Alopecia": "HP:0001596", + "Hair loss": "HP:0001596", + "Abnormal nail morphology": "HP:0001597", + "Abnormality of the nail": "HP:0001597", + "Nail disease": "HP:0001597", + "Concave nail": "HP:0001598", + "Koilonychia": "HP:0001598", + "Spoon-shaped nails": "HP:0001598", + "Abnormality of the larynx": "HP:0001600", + "Laryngeal abnormalities": "HP:0001600", + "Laryngeal anomalies": "HP:0001600", + "Laryngomalacia": "HP:0001601", + "Softening of voice box tissue": "HP:0001601", + "Laryngeal stenosis": "HP:0001602", + "Vocal cord paresis": "HP:0001604", + "Hoarse voice due to vocal cord paresis": "HP:0001604", + "Vocal cord paresis in severe cases": "HP:0001604", + "Weakness of the vocal cords": "HP:0001604", + "Vocal cord paralysis": "HP:0001605", + "Inability to move vocal cords": "HP:0001605", + "Laryngeal paralysis": "HP:0001605", + "obsolete Vocal cord paralysis (caused by tumor impingement)": "HP:0001606", + "Subglottic stenosis": "HP:0001607", + "Abnormality of the voice": "HP:0001608", + "Voice abnormality": "HP:0001608", + "Hoarse voice": "HP:0001609", + "Hoarseness": "HP:0001609", + "Husky voice": "HP:0001609", + "Hypernasal speech": "HP:0001611", + "Hypernasal voice": "HP:0001611", + "Nasal speech": "HP:0001611", + "Nasal voice": "HP:0001611", + "Weak cry": "HP:0001612", + "obsolete Hoarse voice (caused by tumor impingement)": "HP:0001613", + "Hoarse cry": "HP:0001615", + "Dysphonia": "HP:0001618", + "Inability to produce voice sounds": "HP:0001618", + "Voice change": "HP:0001618", + "Abnormally high-pitched voice": "HP:0001620", + "High pitched voice": "HP:0001620", + "High-pitched voice": "HP:0001620", + "Weak voice": "HP:0001621", + "Quiet voice": "HP:0001621", + "Soft voice": "HP:0001621", + "Hypophonia": "HP:0001621", + "Premature birth": "HP:0001622", + "Premature delivery": "HP:0001622", + "Premature delivery of affected infants": "HP:0001622", + "Preterm birth": "HP:0001622", + "Preterm delivery": "HP:0001622", + "Shortened gestation time": "HP:0001622", + "Breech presentation": "HP:0001623", + "Breech presentation at birth": "HP:0001623", + "Feet or buttocks of fetus positioned near opening of uterus": "HP:0001623", + "Feet or buttocks of foetus positioned near opening of uterus": "HP:0001623", + "Abnormality of the cardiovascular system": "HP:0001626", + "Cardiovascular abnormality": "HP:0001626", + "Cardiovascular disease": "HP:0001626", + "Abnormal heart morphology": "HP:0001627", + "Abnormality of cardiac morphology": "HP:0001627", + "Abnormality of the heart": "HP:0001627", + "Abnormally shaped heart": "HP:0001627", + "Cardiac abnormality": "HP:0001627", + "Cardiac anomalies": "HP:0001627", + "Cardiac anomaly": "HP:0001627", + "Congenital heart defect": "HP:0001627", + "Congenital heart defects": "HP:0001627", + "Heart defect": "HP:0001627", + "Ventricular septal defect": "HP:0001629", + "Hole in heart wall separating two lower heart chambers": "HP:0001629", + "VSD": "HP:0001629", + "Ventricular septal defects": "HP:0001629", + "Ventriculoseptal defect": "HP:0001629", + "Atrial septal defect": "HP:0001631", + "An opening in the wall separating the top two chambers of the heart": "HP:0001631", + "Atria septal defect": "HP:0001631", + "Atrial septum defect": "HP:0001631", + "Atrioseptal defect": "HP:0001631", + "Defect in the atrial septum": "HP:0001631", + "Hole in heart wall separating two upper heart chambers": "HP:0001631", + "Abnormal mitral valve morphology": "HP:0001633", + "Abnormality of the mitral valve": "HP:0001633", + "Mitral valve prolapse": "HP:0001634", + "Congestive heart failure": "HP:0001635", + "CHF": "HP:0001635", + "Cardiac failure": "HP:0001635", + "Cardiac failures": "HP:0001635", + "Cardiac insufficiency": "HP:0001635", + "Chronic heart failure": "HP:0001635", + "Heart failure": "HP:0001635", + "Tetralogy of Fallot": "HP:0001636", + "Tetrology of fallot": "HP:0001636", + "Abnormal myocardium morphology": "HP:0001637", + "Abnormality of the myocardium": "HP:0001637", + "Cardiomyopathy": "HP:0001638", + "Disease of the heart muscle": "HP:0001638", + "Hypertrophic cardiomyopathy": "HP:0001639", + "Cardiomyopathy, hypertrophic": "HP:0001639", + "Enlarged and thickened heart muscle": "HP:0001639", + "HCM": "HP:0001639", + "Cardiomegaly": "HP:0001640", + "Enlarged heart": "HP:0001640", + "Increased heart size": "HP:0001640", + "Abnormal pulmonary valve morphology": "HP:0001641", + "Abnormality of the pulmonary valve": "HP:0001641", + "Anomaly of the pulmonary valve": "HP:0001641", + "Pulmonic stenosis": "HP:0001642", + "Narrowing of pulmonic valve": "HP:0001642", + "Pulmonary stenosis": "HP:0001642", + "Pulmonary valve stenosis": "HP:0001642", + "Pulmonic valve stenosis": "HP:0001642", + "Patent ductus arteriosus": "HP:0001643", + "Ductus arteriosus": "HP:0001643", + "PDA": "HP:0001643", + "Patent ductus Botalli": "HP:0001643", + "Persistent arterial duct": "HP:0001643", + "Persistent ductus arteriosus": "HP:0001643", + "Dilated cardiomyopathy": "HP:0001644", + "Cardiomyopathy, dilated": "HP:0001644", + "Congestive cardiomyopathy": "HP:0001644", + "DCM": "HP:0001644", + "Stretched and thinned heart muscle": "HP:0001644", + "Sudden cardiac death": "HP:0001645", + "Premature sudden cardiac death": "HP:0001645", + "Abnormal aortic valve morphology": "HP:0001646", + "Abnormality of the aortic valve": "HP:0001646", + "Bicuspid aortic valve": "HP:0001647", + "Aortic valve has two leaflets rather than three": "HP:0001647", + "Cor pulmonale": "HP:0001648", + "Tachycardia": "HP:0001649", + "Fast heart rate": "HP:0001649", + "Heart racing": "HP:0001649", + "Racing heart": "HP:0001649", + "Elevated heart rate": "HP:0001649", + "Increased heart rate": "HP:0001649", + "Rapid heart beat": "HP:0001649", + "Aortic valve stenosis": "HP:0001650", + "Aortic stenosis": "HP:0001650", + "Narrowing of aortic valve": "HP:0001650", + "Valvular aortic stenosis": "HP:0001650", + "Dextrocardia": "HP:0001651", + "Heart tip and four chambers point towards right side of body": "HP:0001651", + "Thoracic situs inversus": "HP:0001651", + "Mitral regurgitation": "HP:0001653", + "Mitral incompetence": "HP:0001653", + "Mitral insufficiency": "HP:0001653", + "Mitral valve insufficiency": "HP:0001653", + "Mitral valve regurgitation": "HP:0001653", + "Mitral regurgitation, mild": "HP:0001653", + "Abnormal heart valve morphology": "HP:0001654", + "Abnormality of the heart valves": "HP:0001654", + "Valvular abnormality": "HP:0001654", + "Valvular heart disease": "HP:0001654", + "Patent foramen ovale": "HP:0001655", + "Persistent foramen ovale": "HP:0001655", + "Prolonged QT interval": "HP:0001657", + "Long QT syndrome": "HP:0001657", + "Prolong qt interval on ekg": "HP:0001657", + "Long Q-T syndrome": "HP:0001657", + "Myocardial infarction": "HP:0001658", + "Heart attack": "HP:0001658", + "MI": "HP:0001658", + "Aortic regurgitation": "HP:0001659", + "Aortic insufficiency": "HP:0001659", + "Aortic valve regurgitation": "HP:0001659", + "Truncus arteriosus": "HP:0001660", + "Common arterial trunk": "HP:0001660", + "Persistent truncus arteriosus": "HP:0001660", + "Bradycardia": "HP:0001662", + "Brachycardia": "HP:0001662", + "Slow heartbeats": "HP:0001662", + "Ventricular fibrillation": "HP:0001663", + "Torsade de pointes": "HP:0001664", + "Torsades de pointes": "HP:0001664", + "Right ventricular hypertrophy": "HP:0001667", + "Heart right ventricle hypertrophy": "HP:0001667", + "Transposition of the great arteries": "HP:0001669", + "Transposition of great vessels": "HP:0001669", + "Asymmetric septal hypertrophy": "HP:0001670", + "Abnormal cardiac septum morphology": "HP:0001671", + "Abnormality of the cardiac septa": "HP:0001671", + "Heart septal defect": "HP:0001671", + "Septal defects": "HP:0001671", + "obsolete Tachycardia (with pheochromocytoma)": "HP:0001673", + "Complete atrioventricular canal defect": "HP:0001674", + "Common atrioventricular canal": "HP:0001674", + "Complete atrioventricular canal": "HP:0001674", + "Complete atrioventricular septal defect": "HP:0001674", + "Complete common AV canal": "HP:0001674", + "obsolete Rhythm disturbances associated with pheochromocytoma": "HP:0001675", + "obsolete Palpitations (with pheochromocytoma)": "HP:0001676", + "Coronary artery atherosclerosis": "HP:0001677", + "Coronary atherosclerosis": "HP:0001677", + "Coronary disease": "HP:0001677", + "Plaque build-up in arteries supplying blood to heart": "HP:0001677", + "Atrioventricular block": "HP:0001678", + "Interruption of electrical communication between upper and lower chambers of heart": "HP:0001678", + "Atrioventricular nodal disease": "HP:0001678", + "Abnormal aortic morphology": "HP:0001679", + "Abnormal aorta morphology": "HP:0001679", + "Abnormality of the aorta": "HP:0001679", + "Coarctation of aorta": "HP:0001680", + "Aortic coarctation": "HP:0001680", + "Coarctation of the aorta": "HP:0001680", + "Narrowing of aorta": "HP:0001680", + "Narrowing of the aorta": "HP:0001680", + "Angina pectoris": "HP:0001681", + "Subvalvular aortic stenosis": "HP:0001682", + "Narrowing of blood vessel below aortic heart valve": "HP:0001682", + "Subaortic stenosis": "HP:0001682", + "Ectopia cordis": "HP:0001683", + "Secundum atrial septal defect": "HP:0001684", + "Atrial septal defect, ostium secundum type": "HP:0001684", + "Ostium secundum atrial septal defect": "HP:0001684", + "Patent ostium secundum": "HP:0001684", + "Myocardial fibrosis": "HP:0001685", + "Loss of voice": "HP:0001686", + "Aphonia": "HP:0001686", + "Sinus bradycardia": "HP:0001688", + "Muscular subvalvular aortic stenosis": "HP:0001691", + "Muscular subaortic stenosis": "HP:0001691", + "Atrial arrhythmia": "HP:0001692", + "Primary atrial arrhythmia": "HP:0001692", + "Cardiac shunt": "HP:0001693", + "Right-to-left shunt": "HP:0001694", + "Cardiac arrest": "HP:0001695", + "Heart stops beating": "HP:0001695", + "Situs inversus totalis": "HP:0001696", + "All organs on wrong side of body": "HP:0001696", + "situs oppositus": "HP:0001696", + "situs transversus": "HP:0001696", + "Situs inversus": "HP:0001696", + "Abnormal pericardium morphology": "HP:0001697", + "Abnormality of the pericardium": "HP:0001697", + "Pericardial effusion": "HP:0001698", + "Fluid around heart": "HP:0001698", + "Pericardial effusions": "HP:0001698", + "Sudden death": "HP:0001699", + "Myocardial necrosis": "HP:0001700", + "Pericarditis": "HP:0001701", + "Swelling or irritation of membrane around heart": "HP:0001701", + "Abnormal tricuspid valve morphology": "HP:0001702", + "Abnormality of the tricuspid valve": "HP:0001702", + "Tricuspid valve prolapse": "HP:0001704", + "Right ventricular outlet tract obstruction": "HP:0001705", + "Right ventricular outlet obstruction": "HP:0001705", + "Endocardial fibroelastosis": "HP:0001706", + "Abnormal right ventricle morphology": "HP:0001707", + "Abnormality of the right ventricle": "HP:0001707", + "Right ventricular abnormality": "HP:0001707", + "Right ventricular failure": "HP:0001708", + "Impaired right ventricular function": "HP:0001708", + "Right ventricular impairment": "HP:0001708", + "Right-sided heart failure": "HP:0001708", + "Third degree atrioventricular block": "HP:0001709", + "Complete heart block": "HP:0001709", + "Third-degree heart block": "HP:0001709", + "Conotruncal defect": "HP:0001710", + "Conotruncal heart defects": "HP:0001710", + "Abnormal left ventricle morphology": "HP:0001711", + "Abnormal heart left ventricle morphology": "HP:0001711", + "Abnormality of the left ventricle": "HP:0001711", + "Left ventricular abnormality": "HP:0001711", + "Left ventricular hypertrophy": "HP:0001712", + "Heart left ventricle hypertrophy": "HP:0001712", + "Left ventricular wall hypertrophy": "HP:0001712", + "Abnormal cardiac ventricle morphology": "HP:0001713", + "Abnormality of cardiac ventricle": "HP:0001713", + "Ventricular hypertrophy": "HP:0001714", + "Wolff-Parkinson-White syndrome": "HP:0001716", + "Coronary artery calcification": "HP:0001717", + "Mitral stenosis": "HP:0001718", + "Mitral valve stenosis": "HP:0001718", + "Double outlet right ventricle": "HP:0001719", + "DORV": "HP:0001719", + "Double-outlet right ventricle": "HP:0001719", + "High-output congestive heart failure": "HP:0001722", + "Restrictive cardiomyopathy": "HP:0001723", + "obsolete Aortic dilatation": "HP:0001724", + "obsolete Increased prevalence of valvular disease": "HP:0001726", + "Thromboembolic stroke": "HP:0001727", + "Progressive hearing impairment": "HP:0001730", + "Progressive hearing loss": "HP:0001730", + "Abnormality of the pancreas": "HP:0001732", + "Pancreatic disease": "HP:0001732", + "Pancreatitis": "HP:0001733", + "Pancreatic inflammation": "HP:0001733", + "Annular pancreas": "HP:0001734", + "Acute pancreatitis": "HP:0001735", + "Acute pancreatic inflammation": "HP:0001735", + "Pancreatitis, acute": "HP:0001735", + "Pancreatic cysts": "HP:0001737", + "Multiple pancreatic cysts": "HP:0001737", + "Pancreatic cyst": "HP:0001737", + "Exocrine pancreatic insufficiency": "HP:0001738", + "Inability to properly digest food due to lack of pancreatic digestive enzymes": "HP:0001738", + "Pancreatic insufficiency": "HP:0001738", + "Abnormal nasopharynx morphology": "HP:0001739", + "Abnormality of the nasopharynx": "HP:0001739", + "Phimosis": "HP:0001741", + "Nasal congestion": "HP:0001742", + "Blockage of nose": "HP:0001742", + "Nasal blockage": "HP:0001742", + "Nasal obstruction": "HP:0001742", + "Obstruction of nose": "HP:0001742", + "Stuffy nose": "HP:0001742", + "Congestion of nose": "HP:0001742", + "Abnormality of the spleen": "HP:0001743", + "Splenomegaly": "HP:0001744", + "Increased spleen size": "HP:0001744", + "Large spleen": "HP:0001744", + "Asplenia": "HP:0001746", + "Absent spleen": "HP:0001746", + "Accessory spleen": "HP:0001747", + "Polysplenia": "HP:0001748", + "Accessory spleens": "HP:0001748", + "Multiple accessory spleens": "HP:0001748", + "Multiple small spleens": "HP:0001748", + "Single ventricle": "HP:0001750", + "Common ventricle": "HP:0001750", + "Abnormal vestibular function": "HP:0001751", + "Impaired vestibular function": "HP:0001751", + "Interictal vestibular dysfunction": "HP:0001751", + "Vestibular function defect": "HP:0001751", + "Vestibular hyporeflexia": "HP:0001756", + "Vestibular deficiency": "HP:0001756", + "Vestibular dysfunction": "HP:0001756", + "Vestibular failure": "HP:0001756", + "Vestibular hypofunction": "HP:0001756", + "Vestibular loss": "HP:0001756", + "Vestibulopathy": "HP:0001756", + "High-frequency sensorineural hearing impairment": "HP:0001757", + "High frequency sensorineural hearing impairment": "HP:0001757", + "High-tone sensorineural deafness": "HP:0001757", + "High-tone sensorineural hearing impairment": "HP:0001757", + "Abnormal foot morphology": "HP:0001760", + "Abnormal feet structure": "HP:0001760", + "Abnormality of the feet": "HP:0001760", + "Abnormality of the foot": "HP:0001760", + "Foot deformities": "HP:0001760", + "Foot deformity": "HP:0001760", + "Pes cavus": "HP:0001761", + "Cavus foot": "HP:0001761", + "High-arched foot": "HP:0001761", + "Talipes equinovarus": "HP:0001762", + "Club feet": "HP:0001762", + "Club foot": "HP:0001762", + "Clubbing of feet": "HP:0001762", + "Clubfeet": "HP:0001762", + "Clubfoot": "HP:0001762", + "Equinovarus": "HP:0001762", + "Foot, talipes equinovarus": "HP:0001762", + "Pes equinovarus": "HP:0001762", + "Pes equinus": "HP:0001762", + "Fetal foot inversion": "HP:0001762", + "Foetal foot inversion": "HP:0001762", + "Pes planus": "HP:0001763", + "Flat feet": "HP:0001763", + "Flat foot": "HP:0001763", + "Dropped arches": "HP:0001763", + "Fallen arches": "HP:0001763", + "Hammertoe": "HP:0001765", + "Hammer toe": "HP:0001765", + "Hammertoes": "HP:0001765", + "Broad foot": "HP:0001769", + "Broad feet": "HP:0001769", + "Wide foot": "HP:0001769", + "Toe syndactyly": "HP:0001770", + "Foot syndactyly": "HP:0001770", + "Fused toes": "HP:0001770", + "Syndactyly of feet": "HP:0001770", + "Syndactyly of toes": "HP:0001770", + "Webbed toes": "HP:0001770", + "Achilles tendon contracture": "HP:0001771", + "Achilles tendon contractures": "HP:0001771", + "Contractures of the Achilles tendon": "HP:0001771", + "Shortening of the achilles tendon": "HP:0001771", + "Tight achilles tendon": "HP:0001771", + "Talipes equinovalgus": "HP:0001772", + "Equinovalgus deformity": "HP:0001772", + "Short foot": "HP:0001773", + "Hypoplastic feet": "HP:0001773", + "Short feet": "HP:0001773", + "Small feet": "HP:0001773", + "Tarsal osteovalgus": "HP:0001775", + "Bilateral talipes equinovarus": "HP:0001776", + "Bilateral clubfeet": "HP:0001776", + "Bilateral clubfoot": "HP:0001776", + "Club foot on both sides": "HP:0001776", + "Abnormal toe morphology": "HP:0001780", + "Abnormalities of the toes": "HP:0001780", + "Abnormality of toe": "HP:0001780", + "Bulbous tips of toes": "HP:0001782", + "Broad metatarsal": "HP:0001783", + "Wide long bone of foot": "HP:0001783", + "Broad metatarsals": "HP:0001783", + "Widened metatarsal shaft": "HP:0001783", + "Ankle swelling": "HP:0001785", + "Narrow foot": "HP:0001786", + "Slender feet": "HP:0001786", + "Abnormal delivery": "HP:0001787", + "Delivery complication": "HP:0001787", + "Premature rupture of membranes": "HP:0001788", + "Hydrops fetalis": "HP:0001789", + "Nonimmune hydrops fetalis": "HP:0001790", + "Hydrops fetalis, non-immune": "HP:0001790", + "Hydrops fetalis, nonimmune": "HP:0001790", + "Non-immune fetal hydrops": "HP:0001790", + "Non-immune foetal hydrops": "HP:0001790", + "Nonimmune hydrops": "HP:0001790", + "Fetal ascites": "HP:0001791", + "Foetal ascites": "HP:0001791", + "Small nail": "HP:0001792", + "Hypoplastic nail": "HP:0001792", + "Hypoplastic nails": "HP:0001792", + "Nail hypoplasia": "HP:0001792", + "Small nails": "HP:0001792", + "Hyperconvex nail": "HP:0001795", + "Increased nail curvature": "HP:0001795", + "Nail overcurvature": "HP:0001795", + "Anonychia": "HP:0001798", + "Absent nails": "HP:0001798", + "Aplastic nails": "HP:0001798", + "Short nail": "HP:0001799", + "Short nails": "HP:0001799", + "Hypoplastic toenails": "HP:0001800", + "Underdeveloped toenails": "HP:0001800", + "Absent toenail": "HP:0001802", + "Absent toenails": "HP:0001802", + "Absent toenails (anonychia)": "HP:0001802", + "Anonychia of toenails": "HP:0001802", + "Nail pits": "HP:0001803", + "Nail pitting": "HP:0001803", + "Pitted nails": "HP:0001803", + "Hypoplastic fingernail": "HP:0001804", + "Small fingernail": "HP:0001804", + "Underdeveloped fingernail": "HP:0001804", + "Onychogryphosis": "HP:0001805", + "Dystrophic thickened nails": "HP:0001805", + "Onychogryposis": "HP:0001805", + "Thick nail": "HP:0001805", + "Thickened nails": "HP:0001805", + "Onycholysis": "HP:0001806", + "Detachment of nail": "HP:0001806", + "Oncholysis": "HP:0001806", + "Ridged nail": "HP:0001807", + "Grooved nails": "HP:0001807", + "Longitudinal ridging": "HP:0001807", + "Nail ridging": "HP:0001807", + "Ridged nails": "HP:0001807", + "Fragile nails": "HP:0001808", + "Brittle nails": "HP:0001808", + "Split nail": "HP:0001809", + "Longitudinal splitting of nail": "HP:0001809", + "Dystrophic toenail": "HP:0001810", + "Dystrophic toenail changes": "HP:0001810", + "Poor toenail formation": "HP:0001810", + "Dystrophic toenails": "HP:0001810", + "Hyperconvex fingernails": "HP:0001812", + "Tubular fingernails": "HP:0001812", + "Deep-set nails": "HP:0001814", + "Thin nail": "HP:0001816", + "Thin nails": "HP:0001816", + "Absent fingernail": "HP:0001817", + "Aplasia of the fingernail": "HP:0001817", + "Anonychia of fingernails": "HP:0001817", + "Paronychia": "HP:0001818", + "Leukonychia": "HP:0001820", + "White discoloration of nails": "HP:0001820", + "Broad nail": "HP:0001821", + "Broad fingernails": "HP:0001821", + "Wide fingernails": "HP:0001821", + "Hallux valgus": "HP:0001822", + "Bunion": "HP:0001822", + "Lateral deviation of great toe": "HP:0001822", + "Lateral deviation of halluces": "HP:0001822", + "Weight loss": "HP:0001824", + "Loss of weight": "HP:0001824", + "Genital tract atresia": "HP:0001827", + "Foot polydactyly": "HP:0001829", + "Duplication of bones of the toes": "HP:0001829", + "Polydactyly of feet": "HP:0001829", + "Polydactyly of the foot": "HP:0001829", + "Postaxial foot polydactyly": "HP:0001830", + "Extra toe attached near the little toe": "HP:0001830", + "Polydactyly affecting the 5th toe": "HP:0001830", + "Postaxial polydactyly of feet": "HP:0001830", + "Postaxial polydactyly of foot": "HP:0001830", + "Posterior polydactyly of foot": "HP:0001830", + "Fibular polydactyly": "HP:0001830", + "Short toe": "HP:0001831", + "Brachydactyly of the foot": "HP:0001831", + "Hypoplasia of the toe": "HP:0001831", + "Hypoplastic toes": "HP:0001831", + "Short foot phalanges": "HP:0001831", + "Short toes": "HP:0001831", + "Stubby toes": "HP:0001831", + "Abnormal metatarsal morphology": "HP:0001832", + "Abnormality of the long bone of foot": "HP:0001832", + "Long foot": "HP:0001833", + "Disproportionately large feet": "HP:0001833", + "large feet": "HP:0001833", + "long feet": "HP:0001833", + "Camptodactyly of toe": "HP:0001836", + "Camptodactyly of feet": "HP:0001836", + "Broad toe": "HP:0001837", + "Wide toe": "HP:0001837", + "Rocker bottom foot": "HP:0001838", + "Congenital vertical talus": "HP:0001838", + "Rocker bottom feet": "HP:0001838", + "Rocker-bottom feet": "HP:0001838", + "Rockerbottom feet": "HP:0001838", + "Split foot": "HP:0001839", + "Foot ectrodactyly": "HP:0001839", + "Lobster-claw foot deformity": "HP:0001839", + "Split-foot": "HP:0001839", + "Metatarsus adductus": "HP:0001840", + "Forefoot varus": "HP:0001840", + "Front half of foot turns inward": "HP:0001840", + "Metatarsus adductovarsus": "HP:0001840", + "Metatarsus varus": "HP:0001840", + "Sickle foot": "HP:0001840", + "Sickled feet": "HP:0001840", + "Intoe": "HP:0001840", + "Preaxial foot polydactyly": "HP:0001841", + "Partial/complete duplication of the phalanges of the big toe": "HP:0001841", + "Polydactyly affecting the hallux": "HP:0001841", + "Preaxial hallucal polydactyly": "HP:0001841", + "Preaxial polydactyly of feet": "HP:0001841", + "Preaxial polydactyly of foot": "HP:0001841", + "Preaxial polydactyly of the feet": "HP:0001841", + "Preaxial polydactyly, feet": "HP:0001841", + "Foot acroosteolysis": "HP:0001842", + "Acroosteolysis of feet": "HP:0001842", + "Abnormal hallux morphology": "HP:0001844", + "Abnormalities of the hallux": "HP:0001844", + "Abnormality of the big toe": "HP:0001844", + "Abnormality of the hallux": "HP:0001844", + "Overlapping toe": "HP:0001845", + "Overlapping toes": "HP:0001845", + "Overriding toes": "HP:0001845", + "Crossover toe": "HP:0001845", + "Long hallux": "HP:0001847", + "Increased length of the hallux": "HP:0001847", + "Large halluces": "HP:0001847", + "Long big toe": "HP:0001847", + "Long halluces": "HP:0001847", + "Calcaneovalgus deformity": "HP:0001848", + "Foot and ankle bend up toward shin of leg": "HP:0001848", + "Calcaneovalgus": "HP:0001848", + "Calcaneovalgus Foot": "HP:0001848", + "Valgus position of the calcaneus": "HP:0001848", + "Foot oligodactyly": "HP:0001849", + "Missing toes": "HP:0001849", + "Oligodactyly of feet": "HP:0001849", + "Abnormality of the tarsal bones": "HP:0001850", + "Abnormal ankle bones": "HP:0001850", + "Abnormal tarsals": "HP:0001850", + "Sandal gap": "HP:0001852", + "Gap between 1st and 2nd toes": "HP:0001852", + "Gap between first and second toe": "HP:0001852", + "Increased space between first and second toes": "HP:0001852", + "Sandal gap between first and second toes": "HP:0001852", + "Space between great toe and second toe": "HP:0001852", + "Wide space between 1st, 2nd toes": "HP:0001852", + "Wide space between first and second toes": "HP:0001852", + "Wide-spaced big toe": "HP:0001852", + "Widely spaced 1st-2nd toes": "HP:0001852", + "Widely spaced first and second toes": "HP:0001852", + "Widened gap 1st-2nd toes": "HP:0001852", + "Widened gap first and second toe": "HP:0001852", + "Bifid distal phalanx of toe": "HP:0001853", + "Bifid distal phalanges of toes": "HP:0001853", + "Bifid terminal phalanx of toe": "HP:0001853", + "Notched outermost bones of toes": "HP:0001853", + "Podagra": "HP:0001854", + "Gout of big toe": "HP:0001854", + "Short distal phalanx of toe": "HP:0001857", + "Hypoplastic distal phalanges of feet": "HP:0001857", + "Short outermost bone of toe": "HP:0001857", + "Distal foot symphalangism": "HP:0001859", + "obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)": "HP:0001862", + "Toe clinodactyly": "HP:0001863", + "Toe curvature": "HP:0001863", + "Clinodactyly of feet": "HP:0001863", + "Clinodactyly of the 5th toe": "HP:0001864", + "Curvature of the little toe": "HP:0001864", + "Curvature of the pinkie toe": "HP:0001864", + "Curvature of the pinky toe": "HP:0001864", + "Autoamputation of foot": "HP:0001868", + "Deep plantar creases": "HP:0001869", + "Deep wrinkles in soles of feet": "HP:0001869", + "Acroosteolysis of distal phalanges (feet)": "HP:0001870", + "Acroosteolysis of distal phalanges of feet": "HP:0001870", + "Abnormality of blood and blood-forming tissues": "HP:0001871", + "Abnormality of the haematopoietic system": "HP:0001871", + "Abnormality of the hematopoietic system": "HP:0001871", + "Haematological abnormality": "HP:0001871", + "Hematological abnormality": "HP:0001871", + "Hematologic disease": "HP:0001871", + "Abnormality of thrombocytes": "HP:0001872", + "Platelet abnormalities": "HP:0001872", + "Blood platelet disease": "HP:0001872", + "Thrombasthenia": "HP:0001872", + "Thrombocytopenia": "HP:0001873", + "Low platelet count": "HP:0001873", + "Abnormality of neutrophils": "HP:0001874", + "Abnormality of neutrophil": "HP:0001874", + "Abnormality of polymorphonuclear neutrophils": "HP:0001874", + "Neutropenia": "HP:0001875", + "Low blood neutrophil count": "HP:0001875", + "Low neutrophil count": "HP:0001875", + "Neutropoenia": "HP:0001875", + "Peripheral neutropenia": "HP:0001875", + "Pancytopenia": "HP:0001876", + "Low blood cell count": "HP:0001876", + "Pancytopaenia": "HP:0001876", + "Abnormal erythrocyte morphology": "HP:0001877", + "Abnormality of erythrocytes": "HP:0001877", + "Abnormality of red blood cells": "HP:0001877", + "Abnormality of erythroid lineage cell": "HP:0001877", + "Hemolytic anemia": "HP:0001878", + "Haemolytic anaemia": "HP:0001878", + "Haemolytic anemia": "HP:0001878", + "Hemolytic anaemia": "HP:0001878", + "Increased hemolysis": "HP:0001878", + "Abnormal eosinophil morphology": "HP:0001879", + "Abnormality of eosinophils": "HP:0001879", + "Eosinophilia": "HP:0001880", + "High blood eosinophil count": "HP:0001880", + "Abnormal leukocyte morphology": "HP:0001881", + "Abnormality of leukocytes": "HP:0001881", + "Leukopenia": "HP:0001882", + "Decreased blood leukocyte number": "HP:0001882", + "Low white blood cell count": "HP:0001882", + "Talipes": "HP:0001883", + "Talipes foot deformities": "HP:0001883", + "Talipes calcaneovalgus": "HP:0001884", + "Pes calcaneovarus": "HP:0001884", + "Short 2nd toe": "HP:0001885", + "Short second toe": "HP:0001885", + "Foot osteomyelitis": "HP:0001886", + "Foot bone infection": "HP:0001886", + "Lymphopenia": "HP:0001888", + "Absolute lymphocyte count decrease": "HP:0001888", + "Decreased blood lymphocyte number": "HP:0001888", + "Low lymphocyte number": "HP:0001888", + "Lymphocytopenia": "HP:0001888", + "Megaloblastic anemia": "HP:0001889", + "Megaloblastic anaemia": "HP:0001889", + "Autoimmune hemolytic anemia": "HP:0001890", + "Autoimmune haemolytic anaemia": "HP:0001890", + "Autoimmune haemolytic anemia": "HP:0001890", + "Autoimmune hemolytic anaemia": "HP:0001890", + "Hemolytic anemia, autoimmune": "HP:0001890", + "Iron deficiency anemia": "HP:0001891", + "Ferropenic": "HP:0001891", + "Iron deficiency anaemia": "HP:0001891", + "Iron-deficiency anaemia": "HP:0001891", + "Iron-deficiency anemia": "HP:0001891", + "Abnormal bleeding": "HP:0001892", + "Bleeding diathesis": "HP:0001892", + "Bleeding tendency": "HP:0001892", + "Hemorrhagic diathesis": "HP:0001892", + "Thrombocytosis": "HP:0001894", + "Increased number of platelets in blood": "HP:0001894", + "Increased platelet count": "HP:0001894", + "Thrombocythaemia": "HP:0001894", + "Thrombocythemia": "HP:0001894", + "Normochromic anemia": "HP:0001895", + "Normochromic anaemia": "HP:0001895", + "Reticulocytopenia": "HP:0001896", + "Normocytic anemia": "HP:0001897", + "Normocytic anaemia": "HP:0001897", + "Increased red blood cell mass": "HP:0001898", + "Increased RBC mass": "HP:0001898", + "Increased hematocrit": "HP:0001899", + "Increased Hct": "HP:0001899", + "Increased circulating hemoglobin concentration": "HP:0001900", + "Increased Hb": "HP:0001900", + "Increased Hb concentration": "HP:0001900", + "Increased haemoglobin": "HP:0001900", + "Increased haemoglobin concentration": "HP:0001900", + "Increased hemoglobin": "HP:0001900", + "Increased hemoglobin concentration": "HP:0001900", + "Polycythemia": "HP:0001901", + "Abnormally shaped erythrocytes": "HP:0001901", + "Erythrocytosis": "HP:0001901", + "Increased red blood cells": "HP:0001901", + "Polyglobulia": "HP:0001901", + "Giant platelets": "HP:0001902", + "Anemia": "HP:0001903", + "Anaemia": "HP:0001903", + "Low number of red blood cells or haemoglobin": "HP:0001903", + "Low number of red blood cells or hemoglobin": "HP:0001903", + "Decreased haemoglobin": "HP:0001903", + "Decreased hemoglobin": "HP:0001903", + "Neutropenia in presence of anti-neutropil antibodies": "HP:0001904", + "Autoimmune neutropenia": "HP:0001904", + "Congenital thrombocytopenia": "HP:0001905", + "thrombocytopenia, congenital": "HP:0001905", + "Thromboembolism": "HP:0001907", + "Blood clot in blood vessel": "HP:0001907", + "Thromboembolic disease": "HP:0001907", + "Thromboembolic events": "HP:0001907", + "Embolism and thrombosis": "HP:0001907", + "Hypoplastic anemia": "HP:0001908", + "Hypoplastic anaemia": "HP:0001908", + "Leukemia": "HP:0001909", + "Blood cancer": "HP:0001909", + "Leukaemia": "HP:0001909", + "Abnormal granulocyte morphology": "HP:0001911", + "Abnormality of granulocytes": "HP:0001911", + "Abnormal basophil morphology": "HP:0001912", + "Abnormality of basophils": "HP:0001912", + "Granulocytopenia": "HP:0001913", + "Aplastic anemia": "HP:0001915", + "Aplastic anaemia": "HP:0001915", + "Renal amyloidosis": "HP:0001917", + "Acute kidney injury": "HP:0001919", + "AKI": "HP:0001919", + "Acute kidney failure": "HP:0001919", + "Acute renal failure": "HP:0001919", + "Renal artery stenosis": "HP:0001920", + "Narrowing of kidney artery": "HP:0001920", + "Vacuolated lymphocytes": "HP:0001922", + "Enlarged lysosomal vacuoles in lymphocytes": "HP:0001922", + "Vacuolated blood lymphocytes": "HP:0001922", + "Reticulocytosis": "HP:0001923", + "Increased immature red blood cells": "HP:0001923", + "Increased number of immature red blood cells": "HP:0001923", + "Increased reticulocyte count": "HP:0001923", + "Increased reticulocytes": "HP:0001923", + "Sideroblastic anemia": "HP:0001924", + "Hypersideremic anaemia": "HP:0001924", + "Hypersideremic anemia": "HP:0001924", + "Sideroblastic anaemia": "HP:0001924", + "Acanthocytosis": "HP:0001927", + "Acanthocytes": "HP:0001927", + "Red cell acanthocytosis": "HP:0001927", + "Abnormality of coagulation": "HP:0001928", + "Abnormal blood coagulation studies": "HP:0001928", + "Coagulation abnormalities": "HP:0001928", + "Coagulation abnormality": "HP:0001928", + "Haemorrhagic disorders": "HP:0001928", + "Blood coagulation disorder": "HP:0001928", + "Reduced factor XI activity": "HP:0001929", + "Low factor XI activity": "HP:0001929", + "Factor XI deficiency": "HP:0001929", + "Nonspherocytic hemolytic anemia": "HP:0001930", + "Nonspherocytic hemolytic anaemia": "HP:0001930", + "Hypochromic anemia": "HP:0001931", + "Subcutaneous hemorrhage": "HP:0001933", + "Bleeding below the skin": "HP:0001933", + "Subcutaneous haemorrhage": "HP:0001933", + "Persistent bleeding after trauma": "HP:0001934", + "Excessive bleeding after minor trauma": "HP:0001934", + "Frequent bleeding with trauma": "HP:0001934", + "Prolonged bleeding after minor trauma": "HP:0001934", + "Microcytic anemia": "HP:0001935", + "Microcytic anaemia": "HP:0001935", + "Microangiopathic hemolytic anemia": "HP:0001937", + "Microangiopathic hemolytic anaemia": "HP:0001937", + "Abnormality of metabolism/homeostasis": "HP:0001939", + "Laboratory abnormality": "HP:0001939", + "Metabolism abnormality": "HP:0001939", + "Acidosis": "HP:0001941", + "Metabolic acidosis": "HP:0001942", + "Hypoglycemia": "HP:0001943", + "Hypoglycaemia": "HP:0001943", + "Low blood sugar": "HP:0001943", + "Dehydration": "HP:0001944", + "Exsiccosis": "HP:0001944", + "Fever": "HP:0001945", + "Hyperthermia": "HP:0001945", + "Pyrexia": "HP:0001945", + "Ketosis": "HP:0001946", + "High levels of ketone bodies": "HP:0001946", + "Hyperketosis": "HP:0001946", + "Renal tubular acidosis": "HP:0001947", + "Accumulation of acid in body due to kidney problem": "HP:0001947", + "Alkalosis": "HP:0001948", + "Hypokalemic alkalosis": "HP:0001949", + "Respiratory alkalosis": "HP:0001950", + "Episodic ammonia intoxication": "HP:0001951", + "Glucose intolerance": "HP:0001952", + "Abnormal glucose tolerance": "HP:0001952", + "Diabetic ketoacidosis": "HP:0001953", + "Diabetic ketosis": "HP:0001953", + "Recurrent fever": "HP:0001954", + "Episodic fever": "HP:0001954", + "Hyperthermia, episodic": "HP:0001954", + "Increased body temperature, episodic": "HP:0001954", + "Intermittent fever": "HP:0001954", + "Unexplained fevers": "HP:0001955", + "Truncal obesity": "HP:0001956", + "Centripetal obesity": "HP:0001956", + "Nonketotic hypoglycemia": "HP:0001958", + "Polydipsia": "HP:0001959", + "Extreme thirst": "HP:0001959", + "Hypokalemic metabolic alkalosis": "HP:0001960", + "Hypoplastic heart": "HP:0001961", + "Small heart": "HP:0001961", + "Underdeveloped heart": "HP:0001961", + "Palpitations": "HP:0001962", + "Heart palpitations": "HP:0001962", + "Missed heart beat": "HP:0001962", + "Skipped heart beat": "HP:0001962", + "Abnormal speech discrimination": "HP:0001963", + "Poor speech discrimination": "HP:0001963", + "Aplasia/Hypoplasia of metatarsal bones": "HP:0001964", + "Absent or hypoplastic metatarsal": "HP:0001964", + "Absent/hypoplastic metacarpals": "HP:0001964", + "Absent/hypoplastic metatarsals": "HP:0001964", + "Absent/small long bone of foot": "HP:0001964", + "Absent/underdeveloped long bone of foot": "HP:0001964", + "Aplastic/hypoplastic metatarsals": "HP:0001964", + "Abnormal scalp morphology": "HP:0001965", + "Abnormality of the scalp": "HP:0001965", + "Anomaly of scalp": "HP:0001965", + "Abnormal glomerular mesangium morphology": "HP:0001966", + "Abnormality glomerular mesangium morphology": "HP:0001966", + "Abnormality of the glomerular mesangium": "HP:0001966", + "Mesangial abnormality": "HP:0001966", + "Diffuse mesangial sclerosis": "HP:0001967", + "Diffuse mesangial sclerosis glomerulopathy": "HP:0001967", + "Mesangial sclerosis": "HP:0001967", + "Abnormal tubulointerstitial morphology": "HP:0001969", + "Tubulointerstitial abnormality": "HP:0001969", + "Tubulointerstitial nephropathy": "HP:0001969", + "Tubulointerstitial nephritis": "HP:0001970", + "Interstitial nephritis": "HP:0001970", + "Nephritis, Tubulointerstitial": "HP:0001970", + "Hypersplenism": "HP:0001971", + "Macrocytic anemia": "HP:0001972", + "Macrocytic anaemia": "HP:0001972", + "Autoimmune thrombocytopenia": "HP:0001973", + "Idiopathic thrombocytopenia": "HP:0001973", + "Immune thrombocytopenia": "HP:0001973", + "Idiopathic thrombocytopenic purpura": "HP:0001973", + "Leukocytosis": "HP:0001974", + "Elevated white blood count": "HP:0001974", + "High white blood count": "HP:0001974", + "Increased blood leukocyte number": "HP:0001974", + "Decreased platelet glycoprotein IIb-IIIa": "HP:0001975", + "Reduced level of platelet glycoprotein IIb/IIIa complex": "HP:0001975", + "Glanzmann thrombasthenia": "HP:0001975", + "Reduced antithrombin III activity": "HP:0001976", + "Anti-thrombin III deficiency": "HP:0001976", + "Antithrombin III deficiency": "HP:0001976", + "Decreased antithrombin III": "HP:0001976", + "Abnormal thrombosis": "HP:0001977", + "Abnormal blood clot": "HP:0001977", + "Abnormal blood clotting": "HP:0001977", + "Extramedullary hematopoiesis": "HP:0001978", + "Extramedullary erythropoiesis": "HP:0001978", + "Megaloblastic bone marrow": "HP:0001980", + "Schistocytosis": "HP:0001981", + "Schistocytes": "HP:0001981", + "Sea-blue histiocytosis": "HP:0001982", + "Sea-blue histiocyte": "HP:0001982", + "Reduced lymphocyte surface expression of CD43": "HP:0001983", + "Cd43 defectively expressed on surface of blood cells": "HP:0001983", + "Reduced lymphocyte surface expression of sialophorin": "HP:0001983", + "Intolerance to protein": "HP:0001984", + "Hypoketotic hypoglycemia": "HP:0001985", + "Hypoglycemia, hypoketotic": "HP:0001985", + "Hypertonic dehydration": "HP:0001986", + "Hyperosmolar dehydration": "HP:0001986", + "Hyperammonemia": "HP:0001987", + "High blood ammonia levels": "HP:0001987", + "Recurrent hypoglycemia": "HP:0001988", + "Hypoglycemic episodes": "HP:0001988", + "Recurrent hypoglycaemia": "HP:0001988", + "Recurrent hypoglycemic episodes": "HP:0001988", + "Recurrent low blood sugar levels": "HP:0001988", + "hypoglycaemia, recurrent": "HP:0001988", + "hypoglycemia, recurrent": "HP:0001988", + "Fetal akinesia sequence": "HP:0001989", + "Foetal akinesia sequence": "HP:0001989", + "Early severe fetal akinesia sequence": "HP:0001989", + "Early severe foetal akinesia sequence": "HP:0001989", + "Fetal akinesia": "HP:0001989", + "Foetal akinesia": "HP:0001989", + "Aplasia/Hypoplasia of toe": "HP:0001991", + "Absent/small toe": "HP:0001991", + "Absent/underdeveloped toe": "HP:0001991", + "Aplastic/hypoplastic toe phalanges": "HP:0001991", + "Absent/hypoplastic toes": "HP:0001991", + "Organic aciduria": "HP:0001992", + "Ketoacidosis": "HP:0001993", + "Renal Fanconi syndrome": "HP:0001994", + "De toni-fanconi-debre syndrome": "HP:0001994", + "Renal tubular fanconi syndrome": "HP:0001994", + "Hyperchloremic acidosis": "HP:0001995", + "Chronic metabolic acidosis": "HP:0001996", + "Gout": "HP:0001997", + "Gouty arthritis": "HP:0001997", + "Neonatal hypoglycemia": "HP:0001998", + "Low blood sugar in newborn": "HP:0001998", + "Abnormal facial shape": "HP:0001999", + "Deformity of face": "HP:0001999", + "Malformation of face": "HP:0001999", + "Abnormal morphology of the face": "HP:0001999", + "Distinctive facies": "HP:0001999", + "Dysmorphic facial features": "HP:0001999", + "Dysmorphic facies": "HP:0001999", + "Facial dysmorphism": "HP:0001999", + "Unusual facial appearance": "HP:0001999", + "Unusual facies": "HP:0001999", + "Distortion of face": "HP:0001999", + "Funny looking face": "HP:0001999", + "Short columella": "HP:0002000", + "Columella, short": "HP:0002000", + "Decreased length of columella": "HP:0002000", + "Hypoplasia of columella": "HP:0002000", + "Deep philtrum": "HP:0002002", + "Increased depth of philtrum": "HP:0002002", + "Philtrum, deep": "HP:0002002", + "Prominent philtrum": "HP:0002002", + "Pronounced philtrum": "HP:0002002", + "Depressed philtrum": "HP:0002002", + "Large forehead": "HP:0002003", + "Increased size of forehead": "HP:0002003", + "Increased size of frontal region of face": "HP:0002003", + "Hyperplasia of forehead": "HP:0002003", + "Hypertrophy of forehead": "HP:0002003", + "Tessier cleft": "HP:0002006", + "Cleft of the face": "HP:0002006", + "Facial cleft": "HP:0002006", + "Tessier facial cleft": "HP:0002006", + "Facial clefts": "HP:0002006", + "Frontal bossing": "HP:0002007", + "Frontal protuberance": "HP:0002007", + "Skull bossing": "HP:0002007", + "Potter facies": "HP:0002009", + "Narrow maxilla": "HP:0002010", + "Decreased breadth of upper jaw bones": "HP:0002010", + "Decreased transverse dimension of maxilla": "HP:0002010", + "Decreased width of maxilla": "HP:0002010", + "Decreased width of upper jaw bones": "HP:0002010", + "Narrow upper jaw bones": "HP:0002010", + "Transverse hypoplasia of maxilla": "HP:0002010", + "Transverse maxillary deficiency": "HP:0002010", + "Transverse maxillary insufficiency": "HP:0002010", + "Morphological central nervous system abnormality": "HP:0002011", + "Abnormality of the central nervous system": "HP:0002011", + "Morphological abnormality of the CNS": "HP:0002011", + "Morphological abnormality of the central nervous system": "HP:0002011", + "Central nervous system disease": "HP:0002011", + "Abnormality of the abdominal organs": "HP:0002012", + "Gastrointestinal tract defects": "HP:0002012", + "Vomiting": "HP:0002013", + "Emesis": "HP:0002013", + "Throwing up": "HP:0002013", + "Diarrhea": "HP:0002014", + "Diarrhoea": "HP:0002014", + "Watery stool": "HP:0002014", + "Dysphagia": "HP:0002015", + "Difficulty swallowing": "HP:0002015", + "Poor swallowing": "HP:0002015", + "Swallowing difficulties": "HP:0002015", + "Swallowing difficulty": "HP:0002015", + "Deglutition disorder": "HP:0002015", + "Nausea and vomiting": "HP:0002017", + "Nausea": "HP:0002018", + "Constipation": "HP:0002019", + "Costiveness": "HP:0002019", + "Dyschezia": "HP:0002019", + "Gastroesophageal reflux": "HP:0002020", + "Acid reflux": "HP:0002020", + "Acid reflux disease": "HP:0002020", + "GERD": "HP:0002020", + "GORD": "HP:0002020", + "Gastro-esophageal reflux": "HP:0002020", + "Gastro-oesophageal reflux": "HP:0002020", + "Gastroesophageal reflux disease": "HP:0002020", + "Heartburn": "HP:0002020", + "Pyloric stenosis": "HP:0002021", + "Infantile hypertrophic pyloric stenosis": "HP:0002021", + "Pylorus stenosis": "HP:0002021", + "Anal atresia": "HP:0002023", + "Absent anus": "HP:0002023", + "Imperforate anus": "HP:0002023", + "Malabsorption": "HP:0002024", + "Intestinal malabsorption": "HP:0002024", + "Anal stenosis": "HP:0002025", + "Narrowing of anal opening": "HP:0002025", + "Abdominal pain": "HP:0002027", + "Gastro pain": "HP:0002027", + "Gastrointestinal pain": "HP:0002027", + "Pain in stomach": "HP:0002027", + "Stomach pain": "HP:0002027", + "Abdominal discomfort": "HP:0002027", + "Upset stomach": "HP:0002027", + "Chronic diarrhea": "HP:0002028", + "Chronic diarrhoea": "HP:0002028", + "Diarrhea, recurrent": "HP:0002028", + "Recurrent diarrhea": "HP:0002028", + "Recurrent diarrhoea": "HP:0002028", + "Abnormal esophagus morphology": "HP:0002031", + "Abnormal oesophagus morphology": "HP:0002031", + "Abnormality of esophagus structure": "HP:0002031", + "Abnormality of oesophagus structure": "HP:0002031", + "Anomaly of the esophagus": "HP:0002031", + "Anomaly of the oesophagus": "HP:0002031", + "Esophageal atresia": "HP:0002032", + "Birth defect in which part of esophagus did not develop": "HP:0002032", + "Birth defect in which part of oesophagus did not develop": "HP:0002032", + "Poor suck": "HP:0002033", + "Poor sucking": "HP:0002033", + "Sucking weakness": "HP:0002033", + "Abnormal rectum morphology": "HP:0002034", + "Abnormality of the rectum": "HP:0002034", + "Anomaly of the rectum": "HP:0002034", + "Rectal prolapse": "HP:0002035", + "Rectum protrudes through anus": "HP:0002035", + "Rectal prolapsed": "HP:0002035", + "Hiatus hernia": "HP:0002036", + "Hiatal hernia": "HP:0002036", + "Stomach hernia": "HP:0002036", + "Inflammation of the large intestine": "HP:0002037", + "Inflammatory bowel disease": "HP:0002037", + "Protein avoidance": "HP:0002038", + "Anorexia": "HP:0002039", + "Deliberately not eating": "HP:0002039", + "Obsessive dieting": "HP:0002039", + "Refusing to eat": "HP:0002039", + "Esophageal varix": "HP:0002040", + "Enlarged vein in esophagus": "HP:0002040", + "Enlarged vein in oesophagus": "HP:0002040", + "Esophageal varices": "HP:0002040", + "Intractable diarrhea": "HP:0002041", + "Intractable diarrhoea": "HP:0002041", + "Esophageal stricture": "HP:0002043", + "Narrowing of esophagus due to inflammation and scar tissue": "HP:0002043", + "Narrowing of oesophagus due to inflammation and scar tissue": "HP:0002043", + "Zollinger-Ellison syndrome": "HP:0002044", + "Hypothermia": "HP:0002045", + "Abnormally low body temperature": "HP:0002045", + "Heat intolerance": "HP:0002046", + "Intolerance to heat and fevers": "HP:0002046", + "Malignant hyperthermia": "HP:0002047", + "Renal cortical atrophy": "HP:0002048", + "Proximal renal tubular acidosis": "HP:0002049", + "Proximal tubular acidosis": "HP:0002049", + "Renal tubular acidosis, proximal": "HP:0002049", + "Renal tubular acidosis, type II": "HP:0002049", + "Macroorchidism, postpubertal": "HP:0002050", + "Heavy supraorbital ridges": "HP:0002054", + "Heavy brow of the face": "HP:0002054", + "Heavy supraorbital ridge": "HP:0002054", + "Curved linear dimple below the lower lip": "HP:0002055", + "Abnormality of the glabella": "HP:0002056", + "Abnormality of the area between the eyebrows": "HP:0002056", + "Glabellar abnormality": "HP:0002056", + "Deformity of the area between the eyebrows": "HP:0002056", + "Malformation of the area between the eyebrows": "HP:0002056", + "Prominent glabella": "HP:0002057", + "Convex glabella": "HP:0002057", + "Hyperplasia of glabella": "HP:0002057", + "Prominent area between the eyebrows": "HP:0002057", + "Protruding area between the eyebrows": "HP:0002057", + "Myopathic facies": "HP:0002058", + "Myopathic face": "HP:0002058", + "Myopathic facial appearance": "HP:0002058", + "Cerebral atrophy": "HP:0002059", + "Degeneration of cerebrum": "HP:0002059", + "Supratentorial atrophy": "HP:0002059", + "Abnormal cerebral morphology": "HP:0002060", + "Abnormality of the cerebrum": "HP:0002060", + "Abnormality of the telencephalon": "HP:0002060", + "Cerebral lesion": "HP:0002060", + "Lower limb spasticity": "HP:0002061", + "Lower extremities spasticity": "HP:0002061", + "Lower extremity spasticity": "HP:0002061", + "Spastic lower extremities": "HP:0002061", + "Spastic lower extremity": "HP:0002061", + "Spastic lower limb": "HP:0002061", + "Spastic lower limbs": "HP:0002061", + "Spasticity in lower extremities": "HP:0002061", + "Spasticity in lower extremity": "HP:0002061", + "Spasticity in lower limb": "HP:0002061", + "Spasticity in lower limbs": "HP:0002061", + "Spasticity of lower extremities": "HP:0002061", + "Spasticity of lower extremity": "HP:0002061", + "Spasticity of lower limb": "HP:0002061", + "Spasticity of lower limbs": "HP:0002061", + "Abnormal pyramidal tract morphology": "HP:0002062", + "Abnormality of the pyramidal tracts": "HP:0002062", + "Morphological abnormality of the pyramidal tract": "HP:0002062", + "Pyramidal tract disease": "HP:0002062", + "Rigidity": "HP:0002063", + "Muscle rigidity": "HP:0002063", + "Spastic gait": "HP:0002064", + "Spastic walk": "HP:0002064", + "Gait ataxia": "HP:0002066", + "Ataxia of gait": "HP:0002066", + "Ataxic gait": "HP:0002066", + "Inability to coordinate movements when walking": "HP:0002066", + "Bradykinesia": "HP:0002067", + "Slow movements": "HP:0002067", + "Slowness of movements": "HP:0002067", + "Neuromuscular dysphagia": "HP:0002068", + "Bilateral tonic-clonic seizure": "HP:0002069", + "Bilateral convulsive seizures": "HP:0002069", + "Generalised convulsion": "HP:0002069", + "Generalised tonic-clonic seizure (without specification of onset)": "HP:0002069", + "Generalized convulsion": "HP:0002069", + "Generalized tonic-clonic seizure (without specification of onset)": "HP:0002069", + "Grand mal": "HP:0002069", + "Grand mal seizures": "HP:0002069", + "Seizures, tonic-clonic": "HP:0002069", + "Tonic-clonic convulsion": "HP:0002069", + "Tonic-clonic convulsions": "HP:0002069", + "Limb ataxia": "HP:0002070", + "Appendicular ataxia": "HP:0002070", + "Abnormality of extrapyramidal motor function": "HP:0002071", + "Extrapyramidal dysfunction": "HP:0002071", + "Extrapyramidal signs": "HP:0002071", + "Extrapyramidal symptoms": "HP:0002071", + "Extrapyramidal syndrome": "HP:0002071", + "Extrapyramidal tract signs": "HP:0002071", + "Chorea": "HP:0002072", + "Choreic movements": "HP:0002072", + "Choreiform movements": "HP:0002072", + "Choreatic disease": "HP:0002072", + "Progressive cerebellar ataxia": "HP:0002073", + "Cerebellar ataxia, progressive": "HP:0002073", + "Progressive ataxia": "HP:0002073", + "Increased neuronal autofluorescent lipopigment": "HP:0002074", + "Neuronal lipopigments": "HP:0002074", + "Dysdiadochokinesis": "HP:0002075", + "Difficulty performing quick and alternating movements": "HP:0002075", + "Dysdiadochokinesia": "HP:0002075", + "Migraine": "HP:0002076", + "Intermittent migraine headaches": "HP:0002076", + "Migraine headache": "HP:0002076", + "Migraine headaches": "HP:0002076", + "Migraine with aura": "HP:0002077", + "Truncal ataxia": "HP:0002078", + "Instability or lack of coordination of central trunk muscles": "HP:0002078", + "Trunk ataxia": "HP:0002078", + "Hypoplasia of the corpus callosum": "HP:0002079", + "Corpus callosum hypoplasia": "HP:0002079", + "Hypoplasia of corpus callosum": "HP:0002079", + "Hypoplastic corpus callosum": "HP:0002079", + "Underdevelopment of part of brain called corpus callosum": "HP:0002079", + "Intention tremor": "HP:0002080", + "Cerebellar tremor": "HP:0002080", + "Terminal tremor": "HP:0002080", + "Migraine without aura": "HP:0002083", + "Encephalocele": "HP:0002084", + "Bifid skull": "HP:0002084", + "Cranium bifidum": "HP:0002084", + "Occipital encephalocele": "HP:0002085", + "Brain tissue sticks out through back of skull": "HP:0002085", + "Occipital meningoencephalocele": "HP:0002085", + "Posterior encephalocele": "HP:0002085", + "Abnormality of the respiratory system": "HP:0002086", + "Respiratory abnormality": "HP:0002086", + "Abnormality of the upper respiratory tract": "HP:0002087", + "Upper respiratory tract issues": "HP:0002087", + "Abnormal lung morphology": "HP:0002088", + "Abnormality of lung structure": "HP:0002088", + "Abnormality of the lungs": "HP:0002088", + "Abnormally shaped lung": "HP:0002088", + "Unusual lung shape": "HP:0002088", + "Lung disease": "HP:0002088", + "Pulmonary hypoplasia": "HP:0002089", + "Hypoplastic lung": "HP:0002089", + "Hypoplastic lungs": "HP:0002089", + "Lung hypoplasia": "HP:0002089", + "Poorly developed lungs": "HP:0002089", + "Small lung": "HP:0002089", + "Underdeveloped lung": "HP:0002089", + "Pneumonia": "HP:0002090", + "Restrictive ventilatory defect": "HP:0002091", + "Restrictive deficit on pulmonary function testing": "HP:0002091", + "Restrictive deficit on pulmonary function tests": "HP:0002091", + "Restrictive respiratory disease": "HP:0002091", + "Restrictive respiratory insufficiency": "HP:0002091", + "Restrictive respiratory syndrome": "HP:0002091", + "Spirometric restriction": "HP:0002091", + "Stiff lung or chest wall causing decreased lung volume": "HP:0002091", + "Restrictive lung disease": "HP:0002091", + "Pulmonary arterial hypertension": "HP:0002092", + "Increased blood pressure in blood vessels of lungs": "HP:0002092", + "Pulmonary artery hypertension": "HP:0002092", + "Primary pulmonary hypertension": "HP:0002092", + "Respiratory insufficiency": "HP:0002093", + "Respiratory impairment": "HP:0002093", + "Respiratory function loss": "HP:0002093", + "Dyspnea": "HP:0002094", + "Abnormal breathing": "HP:0002094", + "Breathing difficulty": "HP:0002094", + "Difficult to breathe": "HP:0002094", + "Difficulty breathing": "HP:0002094", + "Dyspnoea": "HP:0002094", + "Shortness of breath": "HP:0002094", + "Trouble breathing": "HP:0002094", + "Panting": "HP:0002094", + "Emphysema": "HP:0002097", + "Pulmonary emphysema": "HP:0002097", + "Respiratory distress": "HP:0002098", + "Breathing difficulties": "HP:0002098", + "Labored breathing": "HP:0002098", + "Laboured breathing": "HP:0002098", + "Respiratory difficulties": "HP:0002098", + "Asthma": "HP:0002099", + "Bronchial asthma": "HP:0002099", + "Reactive airway disease": "HP:0002099", + "Recurrent aspiration pneumonia": "HP:0002100", + "Recurrent pneumonia due to aspiration,": "HP:0002100", + "Abnormal lung lobation": "HP:0002101", + "Abnormal pulmonary lobation": "HP:0002101", + "Defective lung lobation": "HP:0002101", + "Lung segmentation defects": "HP:0002101", + "Pleuritis": "HP:0002102", + "Inflammation of tissues lining lungs and chest": "HP:0002102", + "Pleurisy": "HP:0002102", + "Abnormal pleura morphology": "HP:0002103", + "Abnormality of the pleura": "HP:0002103", + "Apnea": "HP:0002104", + "Absence of spontaneous respiration": "HP:0002104", + "Apneic episodes": "HP:0002104", + "Apnoea": "HP:0002104", + "Hemoptysis": "HP:0002105", + "Coughing up blood": "HP:0002105", + "Haemoptysis": "HP:0002105", + "Coughing up blood or blood-stained mucus": "HP:0002105", + "Pneumothorax": "HP:0002107", + "Collapsed lung": "HP:0002107", + "Spontaneous pneumothorax": "HP:0002108", + "Spontaneous collapsed lung": "HP:0002108", + "obsolete Abnormality of the bronchi": "HP:0002109", + "Bronchiectasis": "HP:0002110", + "Permanent enlargement of the airways of the lungs": "HP:0002110", + "obsolete Restrictive deficit on pulmonary function testing": "HP:0002111", + "Pulmonary infiltrates": "HP:0002113", + "Lung infiltrates": "HP:0002113", + "Pulmonic infiltration": "HP:0002113", + "Abnormal cerebral ventricle morphology": "HP:0002118", + "Abnormality of the cerebral ventricles": "HP:0002118", + "Ventriculomegaly": "HP:0002119", + "Cerebral ventricular dilatation": "HP:0002119", + "Dilated cerebral ventricle": "HP:0002119", + "Dilated cerebral ventricles": "HP:0002119", + "Dilated ventricles": "HP:0002119", + "Enlarged cerebral ventricles": "HP:0002119", + "Enlarged ventricles": "HP:0002119", + "Enlarged ventricular system": "HP:0002119", + "Large cerebral ventricles and cisternae": "HP:0002119", + "Ventricular dilatation": "HP:0002119", + "Cerebral cortical atrophy": "HP:0002120", + "Cerebral cortex atrophy": "HP:0002120", + "Cortical atrophy": "HP:0002120", + "Decrease in size of the outer layer of the brain due to loss of brain cells": "HP:0002120", + "Generalized non-motor (absence) seizure": "HP:0002121", + "Absence seizure": "HP:0002121", + "Absence seizures": "HP:0002121", + "Brief seizures with staring spells": "HP:0002121", + "Generalised non-motor (absence) seizure": "HP:0002121", + "Generalised non-motor seizure": "HP:0002121", + "Petit mal": "HP:0002121", + "Petit mal seizure": "HP:0002121", + "Petit mal seizures": "HP:0002121", + "Generalized myoclonic seizure": "HP:0002123", + "Generalised epileptic myoclonus": "HP:0002123", + "Generalised myoclonic seizure": "HP:0002123", + "Generalised myoclonic seizures": "HP:0002123", + "Generalized epileptic myoclonus": "HP:0002123", + "Generalized myoclonic seizures": "HP:0002123", + "Myoclonus seizures": "HP:0002123", + "Myoclonic epilepsy, progressive": "HP:0002123", + "Polymicrogyria": "HP:0002126", + "More grooves in brain": "HP:0002126", + "Abnormal upper motor neuron morphology": "HP:0002127", + "Abnormal shape of upper motor neuron": "HP:0002127", + "Episodic ataxia": "HP:0002131", + "Intermittent cerebellar ataxia": "HP:0002131", + "Paroxysmal ataxia": "HP:0002131", + "Porencephalic cyst": "HP:0002132", + "Cavity within brain": "HP:0002132", + "Status epilepticus": "HP:0002133", + "Prolonged seizure": "HP:0002133", + "Repeated seizure without recovery": "HP:0002133", + "Repeated seizures without recovery between them": "HP:0002133", + "Abnormal basal ganglia morphology": "HP:0002134", + "Abnormality of the basal ganglia": "HP:0002134", + "Anomaly of the basal ganglia": "HP:0002134", + "Basal ganglia disease": "HP:0002134", + "Basal ganglia calcification": "HP:0002135", + "Basal ganglia calcifications": "HP:0002135", + "Basal ganglion calcification": "HP:0002135", + "Calcification of the basal ganglia": "HP:0002135", + "Broad-based gait": "HP:0002136", + "Broad based gait": "HP:0002136", + "Wide based gait": "HP:0002136", + "Wide based walk": "HP:0002136", + "Wide-based gait": "HP:0002136", + "Subarachnoid hemorrhage": "HP:0002138", + "Arrhinencephaly": "HP:0002139", + "Arhinencephaly": "HP:0002139", + "Ischemic stroke": "HP:0002140", + "Ischaemic stroke": "HP:0002140", + "Gait imbalance": "HP:0002141", + "Abnormality of balance": "HP:0002141", + "Abnormality of equilibrium": "HP:0002141", + "Imbalanced walk": "HP:0002141", + "Abnormal spinal cord morphology": "HP:0002143", + "Abnormality of the spinal cord": "HP:0002143", + "Spinal cord disease": "HP:0002143", + "Spinal cord pathology": "HP:0002143", + "Tethered cord": "HP:0002144", + "Occult spinal dysraphism": "HP:0002144", + "Frontotemporal dementia": "HP:0002145", + "Hypophosphatemia": "HP:0002148", + "Hypophosphataemia": "HP:0002148", + "Low blood phosphate level": "HP:0002148", + "Hyperuricemia": "HP:0002149", + "High blood uric acid level": "HP:0002149", + "Hyperuricaemia": "HP:0002149", + "Hypercalciuria": "HP:0002150", + "Elevated urine calcium levels": "HP:0002150", + "Hypercalcinuria": "HP:0002150", + "Increased circulating lactate concentration": "HP:0002151", + "Higher than normal levels of lactate in blood": "HP:0002151", + "Increased blood lactate": "HP:0002151", + "Increased serum lactate": "HP:0002151", + "Hyperproteinemia": "HP:0002152", + "Hyperkalemia": "HP:0002153", + "Increased circulating potassium concentration": "HP:0002153", + "Hyperglycinemia": "HP:0002154", + "Elevated blood glycine levels": "HP:0002154", + "Hyperglycinaemia": "HP:0002154", + "Hypertriglyceridemia": "HP:0002155", + "Increased circulating Tg levels": "HP:0002155", + "Increased plasma Tg levels": "HP:0002155", + "Increased plasma triglycerides": "HP:0002155", + "Increased serum triglycerides": "HP:0002155", + "Increased triglycerides": "HP:0002155", + "Homocystinuria": "HP:0002156", + "High urine homocystine levels": "HP:0002156", + "Azotemia": "HP:0002157", + "Azotaemia": "HP:0002157", + "Heparan sulfate excretion in urine": "HP:0002159", + "Heparan sulphate excretion in urine": "HP:0002159", + "Hyperhomocystinemia": "HP:0002160", + "Elevated blood homocystine": "HP:0002160", + "Homocystinemia": "HP:0002160", + "Hyperlysinemia": "HP:0002161", + "Elevated blood lysine": "HP:0002161", + "Low posterior hairline": "HP:0002162", + "Low hairline at back of neck": "HP:0002162", + "Low posterior hair line": "HP:0002162", + "Nail dysplasia": "HP:0002164", + "Atypical nail growth": "HP:0002164", + "Dysplastic nails": "HP:0002164", + "Onychodysplasia": "HP:0002164", + "Nail pterygium": "HP:0002165", + "Pterygium of nails": "HP:0002165", + "Impaired vibration sensation in the lower limbs": "HP:0002166", + "Decreased lower limb vibratory sense": "HP:0002166", + "Decreased vibratory sense in lower limbs": "HP:0002166", + "Decreased vibratory sense in the lower extremities": "HP:0002166", + "Decreased vibratory sense in the lower limbs": "HP:0002166", + "Diminished vibratory sensation in the legs": "HP:0002166", + "Distal sensory loss, especially vibratory sense": "HP:0002166", + "Distal vibratory impairment of the lower limbs": "HP:0002166", + "Abnormal speech pattern": "HP:0002167", + "Abnormal speech": "HP:0002167", + "Abnormal vocalisation": "HP:0002167", + "Abnormal vocalization": "HP:0002167", + "Abnormality of speech or vocalization": "HP:0002167", + "Scanning speech": "HP:0002168", + "Explosive speech": "HP:0002168", + "Clonus": "HP:0002169", + "Involuntary rhythmic muscular contractions and relaxations": "HP:0002169", + "Intracranial hemorrhage": "HP:0002170", + "Bleeding within the skull": "HP:0002170", + "Intracranial haemorrhage": "HP:0002170", + "Gliosis": "HP:0002171", + "Cerebral gliosis": "HP:0002171", + "Excess astrocytes in brain": "HP:0002171", + "Postural instability": "HP:0002172", + "Balance impairment": "HP:0002172", + "Abnormal retropulsion test": "HP:0002172", + "Imbalance": "HP:0002172", + "Hypoglycemic seizures": "HP:0002173", + "Postural tremor": "HP:0002174", + "Tremor, postural": "HP:0002174", + "Spinal cord compression": "HP:0002176", + "Pressure on spinal cord": "HP:0002176", + "Opisthotonus": "HP:0002179", + "Opisthotonos": "HP:0002179", + "Neurodegeneration": "HP:0002180", + "Ongoing loss of nerve cells": "HP:0002180", + "Neuro-degenerative disease": "HP:0002180", + "Neurodegenerative disease": "HP:0002180", + "Progressive neurodegenerative disorder": "HP:0002180", + "Cerebral edema": "HP:0002181", + "Brain swelling": "HP:0002181", + "Brain edema": "HP:0002181", + "Brain oedema": "HP:0002181", + "Cerebral oedema": "HP:0002181", + "Swelling of brain": "HP:0002181", + "Phonophobia": "HP:0002183", + "Fear of loud sounds": "HP:0002183", + "Neurofibrillary tangles": "HP:0002185", + "NFTs": "HP:0002185", + "Neurofibrillary tangles composed of disordered microtubules in neurons": "HP:0002185", + "Paired helical filaments": "HP:0002185", + "Tau-positive neurofibrillary tangles": "HP:0002185", + "Tau-positive tangle": "HP:0002185", + "Apraxia": "HP:0002186", + "Apraxias": "HP:0002186", + "Intellectual disability, profound": "HP:0002187", + "IQ less than 20": "HP:0002187", + "Mental retardation, profound": "HP:0002187", + "Profound mental retardation": "HP:0002187", + "Delayed CNS myelination": "HP:0002188", + "Delay in central nervous system myelination": "HP:0002188", + "obsolete Excessive daytime sleepiness": "HP:0002189", + "Choroid plexus cyst": "HP:0002190", + "Progressive spasticity": "HP:0002191", + "Spasticity, progressive": "HP:0002191", + "Pseudobulbar affect": "HP:0002193", + "Pseudobulbar behavioral symptoms": "HP:0002193", + "Pseudobulbar behavioural symptoms": "HP:0002193", + "Delayed gross motor development": "HP:0002194", + "Delayed attainment of gross motor milestones": "HP:0002194", + "Delayed attainment of gross motor skills": "HP:0002194", + "Delayed development of gross motor milestones": "HP:0002194", + "Delayed development of gross motor skills": "HP:0002194", + "Delayed gross motor milestones": "HP:0002194", + "Delayed gross motor skills": "HP:0002194", + "Delayed motor skills": "HP:0002194", + "Developmental delay, gross motor": "HP:0002194", + "Gross motor delay": "HP:0002194", + "Limited gross motor development": "HP:0002194", + "Limited gross motor skills": "HP:0002194", + "Dysgenesis of the cerebellar vermis": "HP:0002195", + "Myelopathy": "HP:0002196", + "Generalized-onset seizure": "HP:0002197", + "Generalised onset seizure": "HP:0002197", + "Generalised seizures": "HP:0002197", + "Generalised-onset seizure": "HP:0002197", + "Generalized onset seizure": "HP:0002197", + "Generalized seizures": "HP:0002197", + "Generalized-onset seizures": "HP:0002197", + "Primary generalised seizure": "HP:0002197", + "Primary generalized seizure": "HP:0002197", + "Dilated fourth ventricle": "HP:0002198", + "Enlarged fourth ventricle": "HP:0002198", + "Hypocalcemic seizures": "HP:0002199", + "Low calcium seizures": "HP:0002199", + "Seizures due to hypocalcemia": "HP:0002199", + "Pseudobulbar signs": "HP:0002200", + "Pseudobulbar symptoms": "HP:0002200", + "Pleural effusion": "HP:0002202", + "Fluid around lungs": "HP:0002202", + "Respiratory paralysis": "HP:0002203", + "Pulmonary embolism": "HP:0002204", + "Blood clot in artery of lung": "HP:0002204", + "Recurrent respiratory infections": "HP:0002205", + "Frequent respiratory infections": "HP:0002205", + "Multiple respiratory infections": "HP:0002205", + "Susceptibility to respiratory infections": "HP:0002205", + "respiratory infections, recurrent": "HP:0002205", + "Pulmonary fibrosis": "HP:0002206", + "Diffuse reticular or finely nodular infiltrations": "HP:0002207", + "Coarse hair": "HP:0002208", + "Rough hair texture": "HP:0002208", + "Coarse hair texture": "HP:0002208", + "Sparse scalp hair": "HP:0002209", + "Decreased number of scalp follicles": "HP:0002209", + "Hypotrichosis on scalp": "HP:0002209", + "Reduced amount of scalp hair": "HP:0002209", + "Reduced/lack of hair on scalp": "HP:0002209", + "Reduction in the number of scalp follicles": "HP:0002209", + "Scalp hypotrichosis": "HP:0002209", + "Thinning scalp hair": "HP:0002209", + "Thin scalp hair": "HP:0002209", + "White forelock": "HP:0002211", + "Poliosis of anterior hair": "HP:0002211", + "Poliosis of forelock hair": "HP:0002211", + "White part of hair above forehead": "HP:0002211", + "Curly hair": "HP:0002212", + "Fine hair": "HP:0002213", + "Fine hair shaft": "HP:0002213", + "Fine hair texture": "HP:0002213", + "Thin hair": "HP:0002213", + "Thin hair shaft": "HP:0002213", + "Thin hair texture": "HP:0002213", + "Thinned hair": "HP:0002213", + "Sparse axillary hair": "HP:0002215", + "Sparse axillary and pubic hair": "HP:0002215", + "Sparse scalp, axillary, and pubic hair": "HP:0002215", + "Limited armpit hair": "HP:0002215", + "Little underarm hair": "HP:0002215", + "sparse to absent axillary hair": "HP:0002215", + "Premature graying of hair": "HP:0002216", + "Early graying": "HP:0002216", + "Early greying": "HP:0002216", + "Premature graying": "HP:0002216", + "Premature greying": "HP:0002216", + "Premature greying of hair": "HP:0002216", + "Premature hair graying": "HP:0002216", + "Premature hair greying": "HP:0002216", + "Premature graying of the hair": "HP:0002216", + "Premature greying of the hair": "HP:0002216", + "Slow-growing hair": "HP:0002217", + "Poor hair growth": "HP:0002217", + "Slow growing hair": "HP:0002217", + "Slow rate of hair growth": "HP:0002217", + "Slow speed of hair growth": "HP:0002217", + "Silver-gray hair": "HP:0002218", + "Silver-gray hair color": "HP:0002218", + "Silver-gray hair colour": "HP:0002218", + "Silvery-gray hair": "HP:0002218", + "Facial hypertrichosis": "HP:0002219", + "Increased facial hair growth": "HP:0002219", + "Melanin pigment aggregation in hair shafts": "HP:0002220", + "Absent axillary hair": "HP:0002221", + "Absent eyebrow": "HP:0002223", + "Absent eyebrows": "HP:0002223", + "Failure of development of eyebrows": "HP:0002223", + "Agenesis of eyebrows": "HP:0002223", + "Aplasia of eyebrows": "HP:0002223", + "Loss of eyebrows": "HP:0002223", + "Missing eyebrows": "HP:0002223", + "Woolly hair": "HP:0002224", + "Nappy hair texture": "HP:0002224", + "Kinked hair": "HP:0002224", + "Wooly hair": "HP:0002224", + "Afro-textured hair": "HP:0002224", + "Kinky hair texture": "HP:0002224", + "Sparse pubic hair": "HP:0002225", + "Decreased sexual hair": "HP:0002225", + "sparse to absent pubic hair": "HP:0002225", + "White eyebrow": "HP:0002226", + "Depigmented eyebrow": "HP:0002226", + "Hypopigmented eyebrow": "HP:0002226", + "Pale eyebrow": "HP:0002226", + "Grey eyebrow": "HP:0002226", + "Blonde eyebrow": "HP:0002226", + "White eyelashes": "HP:0002227", + "Blonde eyelashes": "HP:0002227", + "Depigmented eyelashes": "HP:0002227", + "Pale eyelashes": "HP:0002227", + "Grey eyelashes": "HP:0002227", + "obsolete Alopecia areata": "HP:0002229", + "Generalized hirsutism": "HP:0002230", + "Excessive hairiness over body": "HP:0002230", + "Generalised hirsutism": "HP:0002230", + "Sparse body hair": "HP:0002231", + "Limited body hair": "HP:0002231", + "Little body hair": "HP:0002231", + "Sparse to absent body hair": "HP:0002231", + "Patchy alopecia": "HP:0002232", + "Alopecia areata": "HP:0002232", + "Patchy baldness": "HP:0002232", + "Early balding": "HP:0002234", + "Pili canaliculi": "HP:0002235", + "Frontal upsweep of hair": "HP:0002236", + "Cowlick": "HP:0002236", + "Frontal Cowlick": "HP:0002236", + "Upswept frontal hair": "HP:0002236", + "Upswept frontal hair pattern": "HP:0002236", + "Upswept frontal hairline": "HP:0002236", + "Gastrointestinal hemorrhage": "HP:0002239", + "GI haemorrhage": "HP:0002239", + "GI hemorrhage": "HP:0002239", + "Gastrointestinal bleeding": "HP:0002239", + "Gastrointestinal haemorrhage": "HP:0002239", + "Hepatomegaly": "HP:0002240", + "Enlarged liver": "HP:0002240", + "Abnormal intestine morphology": "HP:0002242", + "Abnormality of the intestine": "HP:0002242", + "Enteropathy": "HP:0002242", + "Protein-losing enteropathy": "HP:0002243", + "Abnormal small intestine morphology": "HP:0002244", + "Abnormality of the small intestine": "HP:0002244", + "Meckel diverticulum": "HP:0002245", + "Abnormal duodenum morphology": "HP:0002246", + "Abnormality of the duodenum": "HP:0002246", + "Duodenal atresia": "HP:0002247", + "Absence or narrowing of first part of small bowel": "HP:0002247", + "Hematemesis": "HP:0002248", + "Vomiting blood": "HP:0002248", + "Melena": "HP:0002249", + "Black faeces": "HP:0002249", + "Black feces": "HP:0002249", + "Abnormal large intestine morphology": "HP:0002250", + "Abnormality of the large intestine": "HP:0002250", + "Aganglionic megacolon": "HP:0002251", + "Enlarged colon lacking nerve cells": "HP:0002251", + "Hirschsprung megacolon": "HP:0002251", + "Hirschsprung disease": "HP:0002251", + "Colonic diverticula": "HP:0002253", + "Colonic diverticulosis": "HP:0002253", + "Colon diverticula": "HP:0002253", + "Intermittent diarrhea": "HP:0002254", + "Episodic diarrhea": "HP:0002254", + "Episodic diarrhoea": "HP:0002254", + "Intermittent diarrhoea": "HP:0002254", + "Small bowel diverticula": "HP:0002256", + "Chronic rhinitis": "HP:0002257", + "Exaggerated cupid's bow": "HP:0002263", + "Cupid bow upper lip": "HP:0002263", + "Cupid's bow, accentuated": "HP:0002263", + "Cupid-bow shaped upper lip": "HP:0002263", + "Prominent cupid-bow of upper lip": "HP:0002263", + "Large fleshy ears": "HP:0002265", + "Focal clonic seizure": "HP:0002266", + "Focal clonic seizures": "HP:0002266", + "Localised clonic seizure": "HP:0002266", + "Localized clonic seizure": "HP:0002266", + "Partial clonic seizure": "HP:0002266", + "Segmental clonic seizure": "HP:0002266", + "Exaggerated startle response": "HP:0002267", + "Exaggerated acoustic startle response": "HP:0002267", + "Increased startle response": "HP:0002267", + "Hyperekplexia": "HP:0002267", + "Paroxysmal dystonia": "HP:0002268", + "Episodic dystonia": "HP:0002268", + "Abnormality of neuronal migration": "HP:0002269", + "Abnormal neuronal migration": "HP:0002269", + "Heterotopias/abnormal migration": "HP:0002269", + "Migrational brain disorder": "HP:0002269", + "Neuronal migration disorder": "HP:0002269", + "Abnormality of the autonomic nervous system": "HP:0002270", + "obsolete Autonomic dysregulation": "HP:0002271", + "Tetraparesis": "HP:0002273", + "Quadriparesis": "HP:0002273", + "Poor motor coordination": "HP:0002275", + "Horner syndrome": "HP:0002277", + "Horner's syndrome": "HP:0002277", + "Oculosympathetic palsy": "HP:0002277", + "Enlarged cisterna magna": "HP:0002280", + "Large cisterna magna": "HP:0002280", + "Mega cisterna magna": "HP:0002280", + "obsolete Gray matter heterotopias": "HP:0002281", + "Gray matter heterotopia": "HP:0002282", + "Gray matter heterotopias": "HP:0002282", + "Grey matter heterotopia": "HP:0002282", + "Grey matter heterotopias": "HP:0002282", + "Heterotopia": "HP:0002282", + "Heterotopias": "HP:0002282", + "Neuronal heterotopia": "HP:0002282", + "Global brain atrophy": "HP:0002283", + "Diffuse brain atrophy": "HP:0002283", + "Generalised brain atrophy": "HP:0002283", + "Generalised brain degeneration": "HP:0002283", + "Generalised cerebral atrophy": "HP:0002283", + "Generalized brain atrophy": "HP:0002283", + "Generalized brain degeneration": "HP:0002283", + "Generalized cerebral atrophy": "HP:0002283", + "Fair hair": "HP:0002286", + "Blond hair": "HP:0002286", + "Fair hair color": "HP:0002286", + "Fair hair colour": "HP:0002286", + "Flaxen hair color": "HP:0002286", + "Flaxen hair colour": "HP:0002286", + "Light colored hair": "HP:0002286", + "Light coloured hair": "HP:0002286", + "Sandy hair color": "HP:0002286", + "Sandy hair colour": "HP:0002286", + "Straw colored hair": "HP:0002286", + "Straw coloured hair": "HP:0002286", + "Towhead (hair color)": "HP:0002286", + "Progressive alopecia": "HP:0002287", + "Alopecia universalis": "HP:0002289", + "Alopecia, complete": "HP:0002289", + "Universal alopecia": "HP:0002289", + "Poliosis": "HP:0002290", + "Patch of white hair": "HP:0002290", + "White patch": "HP:0002290", + "Frontal balding": "HP:0002292", + "Male pattern baldness": "HP:0002292", + "Alopecia of scalp": "HP:0002293", + "Absence of scalp hair": "HP:0002293", + "Baldness": "HP:0002293", + "Missing scalp hair": "HP:0002293", + "Pathologic hair loss from scalp": "HP:0002293", + "Scalp hair loss": "HP:0002293", + "Progressive hypotrichosis": "HP:0002296", + "Red hair": "HP:0002297", + "Ginger hair color": "HP:0002297", + "Ginger hair colour": "HP:0002297", + "Red hair color": "HP:0002297", + "Red hair colour": "HP:0002297", + "Red head (hair color)": "HP:0002297", + "Absent hair": "HP:0002298", + "Brittle hair": "HP:0002299", + "Easily breakable hair": "HP:0002299", + "Fractured hair": "HP:0002299", + "Fragile hair": "HP:0002299", + "Reduced tensile strength of hair": "HP:0002299", + "Mutism": "HP:0002300", + "Inability to speak": "HP:0002300", + "Muteness": "HP:0002300", + "Hemiplegia": "HP:0002301", + "Paralysis on one side of body": "HP:0002301", + "Akinesia": "HP:0002304", + "Athetosis": "HP:0002305", + "Athetoid movements": "HP:0002305", + "Involuntary writhing movements": "HP:0002305", + "Involuntary writhing movements in fingers, hands, toes, and feet": "HP:0002305", + "Drooling": "HP:0002307", + "Dribbling": "HP:0002307", + "Sialorrhea": "HP:0002307", + "Chiari malformation": "HP:0002308", + "Arnold-Chiari malformation": "HP:0002308", + "Cerebellar tonsillar ectopia": "HP:0002308", + "Orofacial dyskinesia": "HP:0002310", + "Orofacial dyskinesias": "HP:0002310", + "Incoordination": "HP:0002311", + "Difficulties in coordination": "HP:0002311", + "Incoordination of limb movements": "HP:0002311", + "Limb incoordination": "HP:0002311", + "Clumsiness": "HP:0002312", + "Spastic paraparesis": "HP:0002313", + "Degeneration of the lateral corticospinal tracts": "HP:0002314", + "Degeneration of lateral corticospinal tracts": "HP:0002314", + "Headache": "HP:0002315", + "Headaches": "HP:0002315", + "Unsteady gait": "HP:0002317", + "Gait instability": "HP:0002317", + "Unsteady walk": "HP:0002317", + "Cervical myelopathy": "HP:0002318", + "Vertigo": "HP:0002321", + "Dizzy spell": "HP:0002321", + "Dizziness": "HP:0002321", + "Resting tremor": "HP:0002322", + "Rest tremor": "HP:0002322", + "Tremor at rest": "HP:0002322", + "Parkinsonian tremor": "HP:0002322", + "Anencephaly": "HP:0002323", + "Embryonic anencephaly": "HP:0002323", + "Fetal anencephaly": "HP:0002323", + "Foetal anencephaly": "HP:0002323", + "Hydranencephaly": "HP:0002324", + "Hydrancephaly": "HP:0002324", + "Transient ischemic attack": "HP:0002326", + "Mini stroke": "HP:0002326", + "TIA": "HP:0002326", + "Transient ischaemic attack": "HP:0002326", + "Transient ischaemic attacks": "HP:0002326", + "Transient ischemic attacks": "HP:0002326", + "Drowsiness": "HP:0002329", + "Abnormal drowsiness": "HP:0002329", + "Sleepiness": "HP:0002329", + "Sleepy": "HP:0002329", + "Somnolence": "HP:0002329", + "Paroxysmal drowsiness": "HP:0002330", + "A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep": "HP:0002330", + "Recurrent paroxysmal headache": "HP:0002331", + "Lack of peer relationships": "HP:0002332", + "Motor deterioration": "HP:0002333", + "Progressive degeneration of movement": "HP:0002333", + "Abnormal cerebellar vermis morphology": "HP:0002334", + "Abnormality of the cerebellar vermis": "HP:0002334", + "Agenesis of cerebellar vermis": "HP:0002335", + "Cerebellar vermis aplasia": "HP:0002335", + "Vermian agenesis": "HP:0002335", + "Abnormal caudate nucleus morphology": "HP:0002339", + "Abnormality of the caudate nucleus": "HP:0002339", + "Caudate atrophy": "HP:0002340", + "Caudate degeneration": "HP:0002340", + "Cervical cord compression": "HP:0002341", + "Cervical cord compression myelopathy": "HP:0002341", + "Intellectual disability, moderate": "HP:0002342", + "IQ between 34 and 49": "HP:0002342", + "Mental retardation, moderate": "HP:0002342", + "Moderate mental deficiency": "HP:0002342", + "Moderate mental retardation": "HP:0002342", + "Normal pressure hydrocephalus": "HP:0002343", + "Normal-pressure hydrocephalus": "HP:0002343", + "Progressive neurologic deterioration": "HP:0002344", + "Neurologic deterioration": "HP:0002344", + "Neurologic deterioration, progressive": "HP:0002344", + "Progressive mental deterioration": "HP:0002344", + "Progressive neurodegeneration": "HP:0002344", + "Worsening neurological symptoms": "HP:0002344", + "Action tremor": "HP:0002345", + "Ataxic tremor": "HP:0002345", + "Head tremor": "HP:0002346", + "Focal aware seizure": "HP:0002349", + "Focal aware seizures": "HP:0002349", + "Focal seizure with retained awareness": "HP:0002349", + "Focal seizure without impairment of awareness": "HP:0002349", + "Focal seizure without impairment of consciousness or awareness": "HP:0002349", + "Focal seizures without impairment of consciousness or awareness": "HP:0002349", + "Partial seizure with retained awareness": "HP:0002349", + "Partial seizure without impairment of awareness": "HP:0002349", + "Simple partial seizure": "HP:0002349", + "Simple partial seizures": "HP:0002349", + "Cerebellar cyst": "HP:0002350", + "Cerebellar cysts": "HP:0002350", + "Leukoencephalopathy": "HP:0002352", + "EEG abnormality": "HP:0002353", + "Abnormal EEG": "HP:0002353", + "Abnormal electroencephalogram": "HP:0002353", + "EEG abnormalities": "HP:0002353", + "Electroencephalogram abnormal": "HP:0002353", + "Electroencephalogram abnormalities": "HP:0002353", + "Memory impairment": "HP:0002354", + "Forgetfulness": "HP:0002354", + "Memory loss": "HP:0002354", + "Memory problems": "HP:0002354", + "Poor memory": "HP:0002354", + "obsolete Difficulty walking": "HP:0002355", + "Writer's cramp": "HP:0002356", + "obsolete Dysphasia": "HP:0002357", + "Frequent falls": "HP:0002359", + "Sleep abnormality": "HP:0002360", + "Difficulty sleeping": "HP:0002360", + "Sleep disturbance": "HP:0002360", + "Sleep disturbances": "HP:0002360", + "Sleep dysfunction": "HP:0002360", + "Trouble sleeping": "HP:0002360", + "Psychomotor deterioration": "HP:0002361", + "Psychomotor degeneration": "HP:0002361", + "Shuffling gait": "HP:0002362", + "Shuffled walk": "HP:0002362", + "Abnormal brainstem morphology": "HP:0002363", + "Abnormal shape of brainstem": "HP:0002363", + "Abnormality of brainstem morphology": "HP:0002363", + "Abnormality of the brainstem": "HP:0002363", + "Hypoplasia of the brainstem": "HP:0002365", + "Brainstem hypoplasia": "HP:0002365", + "Hypoplastic brain stem": "HP:0002365", + "Hypoplastic brainstem": "HP:0002365", + "Small brainstem": "HP:0002365", + "Underdeveloped brainstem": "HP:0002365", + "Abnormal lower motor neuron morphology": "HP:0002366", + "Lower motor neuron disease": "HP:0002366", + "Lower motor neuron manifestations": "HP:0002366", + "Lower motor neuron signs": "HP:0002366", + "Visual hallucination": "HP:0002367", + "Visual hallucinations": "HP:0002367", + "Poor coordination": "HP:0002370", + "Loss of speech": "HP:0002371", + "Normal interictal EEG": "HP:0002372", + "Febrile seizure (within the age range of 3 months to 6 years)": "HP:0002373", + "Febrile convulsion": "HP:0002373", + "Febrile seizures": "HP:0002373", + "Fever induced seizures": "HP:0002373", + "Seizures, febrile, in early childhood": "HP:0002373", + "Seizures, generalized, associated with fever": "HP:0002373", + "Diminished movement": "HP:0002374", + "Hypokinesia": "HP:0002375", + "Decreased muscle movement": "HP:0002375", + "Decreased spontaneous movement": "HP:0002375", + "Decreased spontaneous movements": "HP:0002375", + "Developmental regression": "HP:0002376", + "Loss of acquired milestones": "HP:0002376", + "Loss of developmental milestones": "HP:0002376", + "Loss of milestones": "HP:0002376", + "Mental deterioration in childhood": "HP:0002376", + "Neurodevelopmental regression": "HP:0002376", + "Psychomotor regression": "HP:0002376", + "Psychomotor regression beginning in infancy": "HP:0002376", + "Psychomotor regression in infants": "HP:0002376", + "Psychomotor regression, progressive": "HP:0002376", + "obsolete Paraganglioma-related cranial nerve palsy": "HP:0002377", + "Hand tremor": "HP:0002378", + "Tremor of hand": "HP:0002378", + "Tremor of hands": "HP:0002378", + "tremors in hands": "HP:0002378", + "Fasciculations": "HP:0002380", + "Fasciculation": "HP:0002380", + "Muscle fasciculation": "HP:0002380", + "Muscle twitch": "HP:0002380", + "Aphasia": "HP:0002381", + "Difficulty finding words": "HP:0002381", + "Losing words": "HP:0002381", + "Loss of words": "HP:0002381", + "Infectious encephalitis": "HP:0002383", + "Brain inflammation": "HP:0002383", + "Focal impaired awareness seizure": "HP:0002384", + "Complex focal seizures": "HP:0002384", + "Complex partial seizure": "HP:0002384", + "Complex partial seizures": "HP:0002384", + "Dyscognitive seizures": "HP:0002384", + "Focal dyscognitive seizure": "HP:0002384", + "Focal impaired awareness seizures": "HP:0002384", + "Focal seizure with impairment of awareness": "HP:0002384", + "Focal seizure with loss of awareness": "HP:0002384", + "Focal seizures with impairment of consciousness or awareness": "HP:0002384", + "Localised dyscognitive seizure": "HP:0002384", + "Localised seizure with impaired awareness": "HP:0002384", + "Localised seizure with loss of awareness": "HP:0002384", + "Localized dyscognitive seizure": "HP:0002384", + "Localized seizure with impaired awareness": "HP:0002384", + "Localized seizure with loss of awareness": "HP:0002384", + "Partial dyscognitive seizure": "HP:0002384", + "Partial seizure with impairment of awareness": "HP:0002384", + "Partial seizure with loss of awareness": "HP:0002384", + "Paraparesis": "HP:0002385", + "Partial paralysis of legs": "HP:0002385", + "Cavum septum pellucidum": "HP:0002389", + "Large cavum septi pellucidi": "HP:0002389", + "Persistent cavum septum pellucidum": "HP:0002389", + "Widened cavum septum pellucidum": "HP:0002389", + "Spinal arteriovenous malformation": "HP:0002390", + "EEG with polyspike wave complexes": "HP:0002392", + "EEG: spike and multispike waves, 3-4 hz": "HP:0002392", + "Lower limb hyperreflexia": "HP:0002395", + "Brisk lower extremity reflexes": "HP:0002395", + "Hyperreflexia in lower limbs": "HP:0002395", + "Hyperreflexia in the lower limbs": "HP:0002395", + "Increased deep tendon reflexes in the lower limbs": "HP:0002395", + "Leg hyperreflexia": "HP:0002395", + "Overactive lower leg reflex": "HP:0002395", + "Cogwheel rigidity": "HP:0002396", + "Degeneration of anterior horn cells": "HP:0002398", + "Anterior horn cell loss": "HP:0002398", + "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord": "HP:0002398", + "Degeneration of spinal cord anterior horn cells": "HP:0002398", + "Loss of spinal cord anterior horn cells": "HP:0002398", + "Progressive loss of anterior horn cells": "HP:0002398", + "Spinal cord anterior horn cell degeneration": "HP:0002398", + "Stroke-like episode": "HP:0002401", + "Stroke-like episodes": "HP:0002401", + "Strokelike episodes": "HP:0002401", + "Positive Romberg sign": "HP:0002403", + "Thickened superior cerebellar peduncle": "HP:0002404", + "Thick cerebellar peduncles": "HP:0002404", + "Limb dysmetria": "HP:0002406", + "Uncoordinated limb movement": "HP:0002406", + "Cerebral arteriovenous malformation": "HP:0002408", + "Cerebral AV malformation": "HP:0002408", + "Aqueductal stenosis": "HP:0002410", + "Aqueduct of Sylvius stenosis": "HP:0002410", + "Aqueduct stenosis": "HP:0002410", + "Narrowing of aqueduct of Sylvius": "HP:0002410", + "Myokymia": "HP:0002411", + "Spina bifida": "HP:0002414", + "Split spine": "HP:0002414", + "Leukodystrophy": "HP:0002415", + "Degeneration of white matter of brain": "HP:0002415", + "Subependymal cysts": "HP:0002416", + "Subependymal germinolytic cyst": "HP:0002416", + "Subependymal pseudocyst": "HP:0002416", + "Abnormal midbrain morphology": "HP:0002418", + "Abnormal shape of midbrain": "HP:0002418", + "Abnormality of midbrain morphology": "HP:0002418", + "Abnormality of the mesencephalon": "HP:0002418", + "Abnormality of the midbrain": "HP:0002418", + "Molar tooth sign on MRI": "HP:0002419", + "Molar tooth sign": "HP:0002419", + "Molar tooth sign on brain imaging": "HP:0002419", + "Molar tooth sign on imaging": "HP:0002419", + "Poor head control": "HP:0002421", + "Delay in head control": "HP:0002421", + "Delay in head righting": "HP:0002421", + "Infant head lag": "HP:0002421", + "Long-tract sign": "HP:0002423", + "Long tract signs": "HP:0002423", + "Long-tract signs": "HP:0002423", + "Anarthria": "HP:0002425", + "Loss of articulate speech": "HP:0002425", + "Expressive aphasia": "HP:0002427", + "Broca's aphasia": "HP:0002427", + "Loss of expressive speech": "HP:0002427", + "Motor aphasia": "HP:0002427", + "Non-fluent aphasia": "HP:0002427", + "Meningocele": "HP:0002435", + "Occipital meningocele": "HP:0002436", + "Cerebellar malformation": "HP:0002438", + "Frontolimbic dementia": "HP:0002439", + "Dyscalculia": "HP:0002442", + "Difficulty making arithmetical calculations": "HP:0002442", + "Acalculia": "HP:0002442", + "Hypothalamic hamartoma": "HP:0002444", + "Tetraplegia": "HP:0002445", + "Paralysis of all four limbs": "HP:0002445", + "Quadriplegia": "HP:0002445", + "Astrocytosis": "HP:0002446", + "Increase in astrocyte number": "HP:0002446", + "Progressive encephalopathy": "HP:0002448", + "Progressive brain disease": "HP:0002448", + "Abnormal motor neuron morphology": "HP:0002450", + "Abnormal shape of motor neuron": "HP:0002450", + "Limb dystonia": "HP:0002451", + "Abnormal globus pallidus morphology": "HP:0002453", + "Eye of the tiger anomaly of globus pallidus": "HP:0002454", + "Abnormal head movements": "HP:0002457", + "obsolete Dysautonomia": "HP:0002459", + "Distal muscle weakness": "HP:0002460", + "Distal limb muscle weakness": "HP:0002460", + "Distal limb weakness": "HP:0002460", + "Distal muscular weakness": "HP:0002460", + "Distal paresis": "HP:0002460", + "Muscle weakness, distal": "HP:0002460", + "Muscle weakness, distal limbs, due to neuronopathy": "HP:0002460", + "Weakness of distal muscles": "HP:0002460", + "Weakness of outermost muscles": "HP:0002460", + "Distal limb muscle weakness due to peripheral neuropathy": "HP:0002460", + "Cerebellar dentate nucleus calcification": "HP:0002461", + "Language impairment": "HP:0002463", + "Language disorder": "HP:0002463", + "Spastic dysarthria": "HP:0002464", + "Rigid dysarthria": "HP:0002464", + "Poor speech": "HP:0002465", + "Problems speaking": "HP:0002465", + "Difficulty speaking": "HP:0002465", + "Nonprogressive cerebellar ataxia": "HP:0002470", + "Small cerebral cortex": "HP:0002472", + "Decreased volume of cerebral cortex": "HP:0002472", + "Expressive language delay": "HP:0002474", + "Communication delay": "HP:0002474", + "Deficit in expressive language": "HP:0002474", + "Myelomeningocele": "HP:0002475", + "Meningomyelocele": "HP:0002475", + "Spina bifida cystica": "HP:0002475", + "Primitive reflex": "HP:0002476", + "Archaic reflex": "HP:0002476", + "Primitive reflexes": "HP:0002476", + "Progressive spastic quadriplegia": "HP:0002478", + "Progressive spastic quadriparesis": "HP:0002478", + "Hepatic encephalopathy": "HP:0002480", + "Bulbar signs": "HP:0002483", + "Myotonia": "HP:0002486", + "Delayed relaxation of muscle fibers after contraction": "HP:0002486", + "Delayed relaxation of muscle fibres after contraction": "HP:0002486", + "Hyperkinetic movements": "HP:0002487", + "Hyperactive movements": "HP:0002487", + "Hyperkinesia": "HP:0002487", + "Hyperkinesis": "HP:0002487", + "Acute leukemia": "HP:0002488", + "Acute blood cancer": "HP:0002488", + "Acute leukaemia": "HP:0002488", + "Acute leukemias": "HP:0002488", + "Increased CSF lactate": "HP:0002490", + "Hyperlactatorachia": "HP:0002490", + "Increased CSF lactic acid": "HP:0002490", + "Increased cerebrospinal fluid lactate": "HP:0002490", + "Spasticity of facial muscles": "HP:0002491", + "Spasticity of the facial muscles": "HP:0002491", + "Increased stiffness of facial muscles": "HP:0002491", + "Increased tone of facial muscles": "HP:0002491", + "Abnormal corticospinal tract morphology": "HP:0002492", + "Morphological abnormality of the corticospinal tract": "HP:0002492", + "Abnormality of the corticospinal tract": "HP:0002492", + "Involvement of the corticospinal pathways": "HP:0002492", + "Upper motor neuron dysfunction": "HP:0002493", + "Corticospinal tract dysfunction": "HP:0002493", + "Pyramidal tract dysfunction": "HP:0002493", + "Abnormal rapid eye movement sleep": "HP:0002494", + "Abnormal REM sleep": "HP:0002494", + "Impaired vibratory sensation": "HP:0002495", + "Decreased vibration sense": "HP:0002495", + "Decreased vibratory sense": "HP:0002495", + "Diminished vibratory sense": "HP:0002495", + "Hypopallesthesia": "HP:0002495", + "Impaired vibratory sense": "HP:0002495", + "Spastic ataxia": "HP:0002497", + "Abnormal cerebral white matter morphology": "HP:0002500", + "Abnormality of subcortical white matter": "HP:0002500", + "Abnormality of the cerebral white matter": "HP:0002500", + "Cerebral white matter abnormalities": "HP:0002500", + "Leukoaraiosis": "HP:0002500", + "White matter abnormalities": "HP:0002500", + "White matter alterations": "HP:0002500", + "Cortical white matter abnormalities seen on MRI": "HP:0002500", + "Spasticity of pharyngeal muscles": "HP:0002501", + "Spinocerebellar tract degeneration": "HP:0002503", + "Degeneration of the spinocerebellar tracts": "HP:0002503", + "Spinocerebellar degeneration": "HP:0002503", + "Calcification of the small brain vessels": "HP:0002504", + "Loss of ambulation": "HP:0002505", + "Loss of ability to walk": "HP:0002505", + "Diffuse cerebral atrophy": "HP:0002506", + "Cerebral atrophy, diffuse": "HP:0002506", + "Semilobar holoprosencephaly": "HP:0002507", + "Brainstem dysplasia": "HP:0002508", + "Brainstem hypoplasia/dysplasia": "HP:0002508", + "Malformation of brainstem structures": "HP:0002508", + "Limb hypertonia": "HP:0002509", + "Appendicular hypertonia": "HP:0002509", + "Increased muscle tone of arm or leg": "HP:0002509", + "Spastic tetraplegia": "HP:0002510", + "Spastic quadriplegia": "HP:0002510", + "Alzheimer disease": "HP:0002511", + "Late-onset form of familial Alzheimer disease": "HP:0002511", + "Brain stem compression": "HP:0002512", + "Cerebral calcification": "HP:0002514", + "Abnormal deposits of calcium in the brain": "HP:0002514", + "Waddling gait": "HP:0002515", + "Waddling walk": "HP:0002515", + "Increased intracranial pressure": "HP:0002516", + "Intracranial hypertension": "HP:0002516", + "Intracranial pressure elevation": "HP:0002516", + "Rise in pressure inside skull": "HP:0002516", + "Pseudotumor cerebri": "HP:0002516", + "Abnormal periventricular white matter morphology": "HP:0002518", + "Abnormality of the periventricular white matter": "HP:0002518", + "Periventricular white matter abnormalities": "HP:0002518", + "Hypnagogic hallucination": "HP:0002519", + "Hallucinations while falling asleep": "HP:0002519", + "Hypsarrhythmia": "HP:0002521", + "Hypsarrhythmia by EEG": "HP:0002521", + "Areflexia of lower limbs": "HP:0002522", + "Absent lower limb tendon reflexes": "HP:0002522", + "Areflexia in lower limbs": "HP:0002522", + "Areflexia of the lower limbs": "HP:0002522", + "Areflexia, lower limbs": "HP:0002522", + "Cataplexy": "HP:0002524", + "Deficit in nonword repetition": "HP:0002526", + "Falls": "HP:0002527", + "Granulovacuolar degeneration": "HP:0002528", + "Neuronal loss in central nervous system": "HP:0002529", + "Loss of brain cells": "HP:0002529", + "Neuronal loss": "HP:0002529", + "Neuronal loss in CNS": "HP:0002529", + "Axial dystonia": "HP:0002530", + "Truncal dystonia": "HP:0002530", + "Abnormal posturing": "HP:0002533", + "Abnormal cortical gyration": "HP:0002536", + "Gyral disorganisation": "HP:0002536", + "Gyral disorganization": "HP:0002536", + "Abnormal gyration": "HP:0002536", + "Cerebral gyral anomalies": "HP:0002536", + "Abnormal cerebral cortex morphology": "HP:0002538", + "Abnormality of the cerebral cortex": "HP:0002538", + "Cortical dysplasia": "HP:0002539", + "Neocortical dysplasia": "HP:0002539", + "Inability to walk": "HP:0002540", + "Non-ambulatory": "HP:0002540", + "Olivopontocerebellar atrophy": "HP:0002542", + "Olivopontocerebellar degeneration": "HP:0002542", + "Retrocollis": "HP:0002544", + "Patchy demyelination of subcortical white matter": "HP:0002545", + "Incomprehensible speech": "HP:0002546", + "Parkinsonism with favorable response to dopaminergic medication": "HP:0002548", + "Parkinsonism with favourable response to dopaminergic medication": "HP:0002548", + "Favorable response to levodopa": "HP:0002548", + "Favourable response to levodopa": "HP:0002548", + "Deficit in phonologic short-term memory": "HP:0002549", + "Deficit in non-word repetition": "HP:0002549", + "Impaired non-word repetition": "HP:0002549", + "Absent facial hair": "HP:0002550", + "Trichodysplasia": "HP:0002552", + "Generalised trichodysplasia": "HP:0002552", + "Generalized trichodysplasia": "HP:0002552", + "Highly arched eyebrow": "HP:0002553", + "Arched eyebrows": "HP:0002553", + "Broad, arched eyebrows": "HP:0002553", + "High, rounded eyebrows": "HP:0002553", + "High-arched eyebrows": "HP:0002553", + "Thick, flared eyebrows": "HP:0002553", + "Bowed and upward slanting eyebrows": "HP:0002553", + "High arched eyebrows": "HP:0002553", + "Absent pubic hair": "HP:0002555", + "Hypoplastic nipples": "HP:0002557", + "Nipple hypoplasia": "HP:0002557", + "Small nipples": "HP:0002557", + "Supernumerary nipple": "HP:0002558", + "Accessory nipple": "HP:0002558", + "Increased nipple number": "HP:0002558", + "accessory mamilla": "HP:0002558", + "Accessory nipples": "HP:0002558", + "Supernumerary nipples": "HP:0002558", + "accessory mamillas": "HP:0002558", + "Absent nipple": "HP:0002561", + "Absent nipples": "HP:0002561", + "Athelia": "HP:0002561", + "Low-set nipples": "HP:0002562", + "Constrictive pericarditis": "HP:0002563", + "obsolete Malformation of the heart and great vessels": "HP:0002564", + "Intestinal malrotation": "HP:0002566", + "Malrotation": "HP:0002566", + "Gut malrotation": "HP:0002566", + "Steatorrhea": "HP:0002570", + "Fat in faeces": "HP:0002570", + "Fat in feces": "HP:0002570", + "Fatty stool": "HP:0002570", + "Greasy stools": "HP:0002570", + "Achalasia": "HP:0002571", + "Achalasia of the esophagus": "HP:0002571", + "Achalasia of the oesophagus": "HP:0002571", + "Episodic vomiting": "HP:0002572", + "Frequent vomiting": "HP:0002572", + "Hematochezia": "HP:0002573", + "Rectal bleeding": "HP:0002573", + "Recurrent rectal bleeding": "HP:0002573", + "Episodic abdominal pain": "HP:0002574", + "Intermittent abdominal pain": "HP:0002574", + "Tracheoesophageal fistula": "HP:0002575", + "Abnormal connection between trachea and esophagus": "HP:0002575", + "Abnormal connection between trachea and oesophagus": "HP:0002575", + "Intussusception": "HP:0002576", + "Abnormal stomach morphology": "HP:0002577", + "Abnormality of the stomach": "HP:0002577", + "Gastroparesis": "HP:0002578", + "Delayed gastric emptying": "HP:0002578", + "Gastrointestinal dysmotility": "HP:0002579", + "GI dysmotility": "HP:0002579", + "Volvulus": "HP:0002580", + "Atrophic gastritis": "HP:0002582", + "Chronic atrophic gastritis": "HP:0002582", + "Colitis": "HP:0002583", + "Intestinal bleeding": "HP:0002584", + "Intestinal haemorrhage": "HP:0002584", + "Intestinal hemorrhage": "HP:0002584", + "Abnormal peritoneum morphology": "HP:0002585", + "Abnormality of the peritoneum": "HP:0002585", + "Peritonitis": "HP:0002586", + "Inflammation of the peritoneum": "HP:0002586", + "Projectile vomiting": "HP:0002587", + "Duodenal ulcer": "HP:0002588", + "Gastrointestinal atresia": "HP:0002589", + "GI atresia": "HP:0002589", + "Paralytic ileus": "HP:0002590", + "Polyphagia": "HP:0002591", + "Hyperphagia": "HP:0002591", + "Voracious appetite": "HP:0002591", + "Increased appetite": "HP:0002591", + "Gastric ulcer": "HP:0002592", + "Stomach ulcer": "HP:0002592", + "Intestinal lymphangiectasia": "HP:0002593", + "Pancreatic hypoplasia": "HP:0002594", + "Hypoplastic pancreas": "HP:0002594", + "Underdeveloped pancreas": "HP:0002594", + "Ileus": "HP:0002595", + "Gastrointestinal atony": "HP:0002595", + "Abnormality of the vasculature": "HP:0002597", + "Abnormality of blood vessels": "HP:0002597", + "Vascular abnormalities": "HP:0002597", + "Head titubation": "HP:0002599", + "Hyporeflexia of lower limbs": "HP:0002600", + "Hyporeflexia in lower limbs": "HP:0002600", + "Hyporeflexia of the lower limbs": "HP:0002600", + "Hyporeflexia, lower limbs": "HP:0002600", + "Hyporeflexia/areflexia in lower limbs": "HP:0002600", + "Paresis of extensor muscles of the big toe": "HP:0002601", + "Gastrointestinal telangiectasia": "HP:0002604", + "GI telangiectasia": "HP:0002604", + "Small, enlarged blood vessels near skin": "HP:0002604", + "Hepatic necrosis": "HP:0002605", + "Bowel incontinence": "HP:0002607", + "Anal incontinence": "HP:0002607", + "Faecal incontinence": "HP:0002607", + "Fecal incontinence": "HP:0002607", + "Loss of bowel control": "HP:0002607", + "Celiac disease": "HP:0002608", + "Celiac sprue": "HP:0002608", + "Coeliac disease": "HP:0002608", + "Coeliac sprue": "HP:0002608", + "Cholestatic liver disease": "HP:0002611", + "Congenital hepatic fibrosis": "HP:0002612", + "Congenital liver fibrosis": "HP:0002612", + "Excessive buildup of connective tissue and scarring of liver at birth": "HP:0002612", + "Biliary cirrhosis": "HP:0002613", + "Primary biliary cirrhosis": "HP:0002613", + "Hepatic periportal necrosis": "HP:0002614", + "Hypotension": "HP:0002615", + "Arterial hypotension": "HP:0002615", + "Low blood pressure": "HP:0002615", + "Aortic root aneurysm": "HP:0002616", + "Aortic root dilatation": "HP:0002616", + "Bulge in wall of root of large artery that carries blood away from heart": "HP:0002616", + "Enlarged aortic root": "HP:0002616", + "Increased aortic root diameter": "HP:0002616", + "Vascular dilatation": "HP:0002617", + "Aneurysmal dilatation": "HP:0002617", + "Wider than typical opening or gap": "HP:0002617", + "Aneurysm": "HP:0002617", + "Aneurysms": "HP:0002617", + "Aneurysmal disease": "HP:0002617", + "Varicose veins": "HP:0002619", + "Atherosclerosis": "HP:0002621", + "Plaque build-up in arteries": "HP:0002621", + "Atherosclerotic cardiovascular disease": "HP:0002621", + "Narrowing and hardening of arteries": "HP:0002621", + "obsolete Dissecting aortic dilatation": "HP:0002622", + "Overriding aorta": "HP:0002623", + "Dextroposition of aorta": "HP:0002623", + "Overriding aortic valve": "HP:0002623", + "Abnormal venous morphology": "HP:0002624", + "Abnormal vein": "HP:0002624", + "Venous abnormality": "HP:0002624", + "Deep venous thrombosis": "HP:0002625", + "Blood clot in a deep vein": "HP:0002625", + "Deep vein thrombosis": "HP:0002625", + "Multiple deep venous thrombosis": "HP:0002625", + "Venous varicosities of celiac and mesenteric vessels": "HP:0002626", + "Venous varicosities of coeliac and mesenteric vessels": "HP:0002626", + "Right aortic arch with mirror image branching": "HP:0002627", + "Gastrointestinal arteriovenous malformation": "HP:0002629", + "GI arteriovenous malformation": "HP:0002629", + "Fat malabsorption": "HP:0002630", + "obsolete Dilatation of ascending aorta": "HP:0002631", + "Low-to-normal blood pressure": "HP:0002632", + "Low-to-normal BP": "HP:0002632", + "Vasculitis": "HP:0002633", + "Angiitis": "HP:0002633", + "Inflammation of blood vessel": "HP:0002633", + "Arteriosclerosis": "HP:0002634", + "Hardened artery wall": "HP:0002634", + "Type IV atherosclerotic lesion": "HP:0002635", + "Atheromatosis": "HP:0002635", + "Dilatation of an abdominal artery": "HP:0002636", + "Aneurysm of an abdominal artery": "HP:0002636", + "Cerebral ischemia": "HP:0002637", + "Brain ischemia": "HP:0002637", + "Cerebrovascular ischemia": "HP:0002637", + "Disruption of blood oxygen supply to brain": "HP:0002637", + "Superficial thrombophlebitis": "HP:0002638", + "Budd-Chiari syndrome": "HP:0002639", + "Hypertension associated with pheochromocytoma": "HP:0002640", + "Peripheral thrombosis": "HP:0002641", + "Peripheral blood clot": "HP:0002641", + "Arteriovenous fistulas of celiac and mesenteric vessels": "HP:0002642", + "Arteriovenous fistulas of coeliac and mesenteric vessels": "HP:0002642", + "Neonatal respiratory distress": "HP:0002643", + "Infantile respiratory distress": "HP:0002643", + "Newborn respiratory distress": "HP:0002643", + "Respiratory distress, neonatal": "HP:0002643", + "Abnormal pelvic girdle bone morphology": "HP:0002644", + "Abnormal shape of pelvic girdle bone": "HP:0002644", + "Abnormality of pelvic girdle bone morphology": "HP:0002644", + "Abnormality of the pelvic girdle": "HP:0002644", + "Wormian bones": "HP:0002645", + "Extra bones within cranial sutures": "HP:0002645", + "Intra sutural bones": "HP:0002645", + "Intrasutural bones": "HP:0002645", + "Islands of bone within cranial sutures": "HP:0002645", + "Aortic dissection": "HP:0002647", + "Tear in inner wall of large artery that carries blood away from heart": "HP:0002647", + "obsolete Abnormality of calvarial morphology": "HP:0002648", + "Scoliosis": "HP:0002650", + "Cobb angle greater than ten degrees": "HP:0002650", + "Spondyloepimetaphyseal dysplasia": "HP:0002651", + "Skeletal dysplasia": "HP:0002652", + "Abnormal skeletal development": "HP:0002652", + "Bone pain": "HP:0002653", + "Multiple epiphyseal dysplasia": "HP:0002654", + "Spondyloepiphyseal dysplasia": "HP:0002655", + "Epiphyseal dysplasia": "HP:0002656", + "Abnormal development of end part of bone": "HP:0002656", + "Abnormal development of the ends of long bones in arms and legs": "HP:0002656", + "Spondylometaphyseal dysplasia": "HP:0002657", + "Increased susceptibility to fractures": "HP:0002659", + "Abnormal susceptibility to fractures": "HP:0002659", + "Bone fragility": "HP:0002659", + "Frequent broken bones": "HP:0002659", + "Increased bone fragility": "HP:0002659", + "Increased tendency to fractures": "HP:0002659", + "Painless fractures due to injury": "HP:0002661", + "Delayed epiphyseal ossification": "HP:0002663", + "Delayed epiphyseal maturation": "HP:0002663", + "Delayed opacification of the epiphyses": "HP:0002663", + "Epiphyseal ossification delay": "HP:0002663", + "Delayed maturation of end part of long bone": "HP:0002663", + "Neoplasm": "HP:0002664", + "Abnormal tissue mass": "HP:0002664", + "Neoplasia": "HP:0002664", + "Oncological abnormality": "HP:0002664", + "Tumor": "HP:0002664", + "Tumour": "HP:0002664", + "Cancer": "HP:0002664", + "Oncology": "HP:0002664", + "Lymphoma": "HP:0002665", + "Cancer of lymphatic system": "HP:0002665", + "Pheochromocytoma": "HP:0002666", + "Chromaffin tumors": "HP:0002666", + "Chromaffin tumours": "HP:0002666", + "Nephroblastoma": "HP:0002667", + "Wilms tumor": "HP:0002667", + "Wilms tumour": "HP:0002667", + "Paraganglioma": "HP:0002668", + "Carotid body tumors": "HP:0002668", + "Carotid body tumours": "HP:0002668", + "Paragangliomas": "HP:0002668", + "Osteosarcoma": "HP:0002669", + "Bone cell cancer": "HP:0002669", + "Osteogenic sarcoma": "HP:0002669", + "Basal cell carcinoma": "HP:0002671", + "Basal cell carcinomas": "HP:0002671", + "Basal cell epithelioma": "HP:0002671", + "Basal cell nevus": "HP:0002671", + "Basalioma": "HP:0002671", + "Gastrointestinal carcinoma": "HP:0002672", + "GI carcinoma": "HP:0002672", + "Coxa valga": "HP:0002673", + "Valgus hip": "HP:0002673", + "Coxa valga deformity": "HP:0002673", + "Cloverleaf skull": "HP:0002676", + "Cloverleaf cranium shape": "HP:0002676", + "Cloverleaf skull shape": "HP:0002676", + "Trilobar cranium shape": "HP:0002676", + "Trilobar skull shape": "HP:0002676", + "Kleeblattschaedel": "HP:0002676", + "Small foramen magnum": "HP:0002677", + "Foramen magnum stenosis": "HP:0002677", + "Little foramen magnum": "HP:0002677", + "Narrow foramen magnum": "HP:0002677", + "Hypoplasia of foramen magnum": "HP:0002677", + "Stenosis of foramen magnum": "HP:0002677", + "Skull asymmetry": "HP:0002678", + "Abnormality of skull shape": "HP:0002678", + "Unequal skull shape": "HP:0002678", + "Uneven skull shape": "HP:0002678", + "Asymmetry of skull": "HP:0002678", + "Malformation of skull shape": "HP:0002678", + "Abnormal sella turcica morphology": "HP:0002679", + "Abnormality of the sella turcica": "HP:0002679", + "Anomaly of the sella turcica": "HP:0002679", + "Abnormality of the hypophysial fossa": "HP:0002679", + "Abnormality of the pituitary fossa": "HP:0002679", + "Anomaly of the hypophysial fossa": "HP:0002679", + "Anomaly of the pituitary fossa": "HP:0002679", + "J-shaped sella turcica": "HP:0002680", + "Hour glass shaped hypophysial fossa": "HP:0002680", + "Hour glass shaped pituitary fossa": "HP:0002680", + "Hour glass shaped sella turcica": "HP:0002680", + "J-shaped sella": "HP:0002680", + "Omega shaped sella turcica": "HP:0002680", + "J-shaped hypophysial fossa": "HP:0002680", + "J-shaped pituitary fossa": "HP:0002680", + "Omega shaped hypophysial fossa": "HP:0002680", + "Omega shaped pituitary fossa": "HP:0002680", + "Deformed sella turcica": "HP:0002681", + "Abnormal shape of hypophysial fossa": "HP:0002681", + "Abnormal shape of pituitary fossa": "HP:0002681", + "Abnormal shape of sella turcica": "HP:0002681", + "Deformity of hypophysial fossa": "HP:0002681", + "Deformity of pituitary fossa": "HP:0002681", + "Malformation of hypophysial fossa": "HP:0002681", + "Malformation of pituitary fossa": "HP:0002681", + "Malformation of sella turcica": "HP:0002681", + "Broad skull": "HP:0002682", + "Broad cranium": "HP:0002682", + "Increased width of cranium": "HP:0002682", + "Increased width of skull": "HP:0002682", + "Wide cranium": "HP:0002682", + "Wide skull": "HP:0002682", + "Abnormal calvaria morphology": "HP:0002683", + "Abnormality of cranium": "HP:0002683", + "Abnormality of calvarium": "HP:0002683", + "Abnormality of cranial vault": "HP:0002683", + "Abnormality of the calvaria": "HP:0002683", + "Abnormality of the shape of calvarium": "HP:0002683", + "Abnormality of the skull cap": "HP:0002683", + "Abnormality of the skullcap": "HP:0002683", + "Thickened calvaria": "HP:0002684", + "Increased thickness of cranium": "HP:0002684", + "Calvarial thickening": "HP:0002684", + "Calvarium thickened": "HP:0002684", + "Increased calvarial thickness": "HP:0002684", + "Increased thickness of calvaria": "HP:0002684", + "Increased thickness of calvarium": "HP:0002684", + "Increased thickness of cranial vault": "HP:0002684", + "Increased thickness of skull cap": "HP:0002684", + "Thick calvaria": "HP:0002684", + "Thick calvarium": "HP:0002684", + "Thickened calvarium": "HP:0002684", + "Thickened cranial vault": "HP:0002684", + "Thickened cranium": "HP:0002684", + "Thickened skull cap": "HP:0002684", + "Thickening of the calvaria": "HP:0002684", + "Pregnancy history": "HP:0002686", + "Prenatal maternal abnormality": "HP:0002686", + "Maternal health problem": "HP:0002686", + "Abnormality of frontal sinus": "HP:0002687", + "Abnormality of sinus frontalis": "HP:0002687", + "Abnormality of the forehead sinus": "HP:0002687", + "Absent frontal sinuses": "HP:0002688", + "Absence of frontal sinuses": "HP:0002688", + "Absent frontal sinus": "HP:0002688", + "Missing frontal sinus": "HP:0002688", + "Aplasia of frontal sinus": "HP:0002688", + "Aplasia sinus frontalis": "HP:0002688", + "Absent paranasal sinuses": "HP:0002689", + "Missing sinuses": "HP:0002689", + "Absence of paranasal sinuses": "HP:0002689", + "Missing paranasal sinuses": "HP:0002689", + "Aplasia of paranasal sinuses": "HP:0002689", + "Large sella turcica": "HP:0002690", + "Big sella turcica": "HP:0002690", + "Enlarged sella turcica": "HP:0002690", + "Hyperplasia of sella turcica": "HP:0002690", + "Prominent sella turcica": "HP:0002690", + "Hyperplasia of hypophysial fossa": "HP:0002690", + "Hyperplasia of pituitary fossa": "HP:0002690", + "Large hypophysial fossa": "HP:0002690", + "Large pituitary fossa": "HP:0002690", + "Platybasia": "HP:0002691", + "Flattening of the skull base": "HP:0002691", + "Increased basal angle of skull base": "HP:0002691", + "Obtuse basal angle of skull base": "HP:0002691", + "Hypoplastic facial bones": "HP:0002692", + "Hypoplasia of facial skeleton": "HP:0002692", + "Small facial bones": "HP:0002692", + "Small facial skeleton": "HP:0002692", + "Underdevelopment of facial bones": "HP:0002692", + "Underdevelopment of facial skeleton": "HP:0002692", + "Decreased size of facial bones": "HP:0002692", + "Decreased size of facial skeleton": "HP:0002692", + "Flattening of facial bones": "HP:0002692", + "Flattening of facial skeleton": "HP:0002692", + "Hypotrophic facial bones": "HP:0002692", + "Hypotrophic facial skeleton": "HP:0002692", + "Abnormal skull base morphology": "HP:0002693", + "Abnormality of cranial base": "HP:0002693", + "Abnormality of the skull base": "HP:0002693", + "Sclerosis of skull base": "HP:0002694", + "Dense bone of skull base": "HP:0002694", + "Hyperossification of skull base": "HP:0002694", + "Hyperostosis of skull base": "HP:0002694", + "Marked sclerosis of skull base": "HP:0002694", + "Sclerosis of cranial base": "HP:0002694", + "Sclerosis of the skull base": "HP:0002694", + "Sclerotic skull base": "HP:0002694", + "HyperCalcification of skull base": "HP:0002694", + "HyperMineralization of skull base": "HP:0002694", + "obsolete Symmetrical, oval parietal bone defects": "HP:0002695", + "Abnormal parietal bone morphology": "HP:0002696", + "Abnormality of the parietal bone": "HP:0002696", + "Abnormality of the parietal bone of skull": "HP:0002696", + "Parietal foramina": "HP:0002697", + "Persistent foramina of the parietal bones": "HP:0002697", + "Symmetrical, oval defects in the parietal bone": "HP:0002697", + "Symmetrical, oval parietal bone defects": "HP:0002697", + "Holes in parietal bones": "HP:0002697", + "Openings in parietal bones": "HP:0002697", + "Abnormal foramen magnum morphology": "HP:0002699", + "Abnormality of the foramen magnum": "HP:0002699", + "Large foramen magnum": "HP:0002700", + "Big foramen magnum": "HP:0002700", + "Dilation of foramen magnum": "HP:0002700", + "Enlarged foramen magnum": "HP:0002700", + "Wide foramen magnum": "HP:0002700", + "Increased circumference of foramen magnum": "HP:0002700", + "Increased diameter of foramen magnum": "HP:0002700", + "Abnormality of skull ossification": "HP:0002703", + "Abnormality of skull bone formation": "HP:0002703", + "Abnormality of ossification of calvarium": "HP:0002703", + "Abnormality of ossification of cranium": "HP:0002703", + "Abnormality of bone calcification of calvarium": "HP:0002703", + "Abnormality of bone calcification of cranium": "HP:0002703", + "Abnormality of bone calcification of skull": "HP:0002703", + "Abnormality of bone formation of calvarium": "HP:0002703", + "Abnormality of bone formation of cranium": "HP:0002703", + "Abnormality of bone mineralization of calvarium": "HP:0002703", + "Abnormality of bone mineralization of cranium": "HP:0002703", + "Abnormality of bone mineralization of skull": "HP:0002703", + "High, narrow palate": "HP:0002705", + "Gothic palate": "HP:0002705", + "High narrow palate": "HP:0002705", + "High vaulted palate": "HP:0002705", + "Narrow and high arched palate": "HP:0002705", + "Narrow, high-arched palate": "HP:0002705", + "Narrow, high-arched roof of mouth": "HP:0002705", + "Narrow, highly arched palate": "HP:0002705", + "Narrow, highly arched roof of mouth": "HP:0002705", + "Palate telangiectasia": "HP:0002707", + "Palatal angioectasia": "HP:0002707", + "Palatal telangiectasia": "HP:0002707", + "Palate telangiectases": "HP:0002707", + "Palate teleangiectases": "HP:0002707", + "Telangiectasia of the roof of the mouth": "HP:0002707", + "Palatal spider veins": "HP:0002707", + "Spider veins of the roof of the mouth": "HP:0002707", + "Prominent median palatal raphe": "HP:0002708", + "Prominent central palatal ridge": "HP:0002708", + "Prominent central ridge on roof of the mouth": "HP:0002708", + "Prominent medial palatal suture": "HP:0002708", + "Commissural lip pit": "HP:0002710", + "Commissural labial pits": "HP:0002710", + "Commissural pit": "HP:0002710", + "Lip pits at corners of the mouth": "HP:0002710", + "Pits at the corners of the lips": "HP:0002710", + "Exaggerated median tongue furrow": "HP:0002711", + "Deep central lingual furrow": "HP:0002711", + "Deep central lingual groove": "HP:0002711", + "Deep central tongue furrow": "HP:0002711", + "Deep central tongue groove": "HP:0002711", + "Deep median lingual furrow": "HP:0002711", + "Deep median lingual groove": "HP:0002711", + "Deep median tongue furrow": "HP:0002711", + "Deep median tongue groove": "HP:0002711", + "Exaggerated median lingual furrow": "HP:0002711", + "Downturned corners of mouth": "HP:0002714", + "Downturned corners of the mouth": "HP:0002714", + "Downturned mouth": "HP:0002714", + "Downturned oral commisures": "HP:0002714", + "Abnormality of the immune system": "HP:0002715", + "Immunological abnormality": "HP:0002715", + "Lymphadenopathy": "HP:0002716", + "Lymph node hyperplasia": "HP:0002716", + "Swollen lymph nodes": "HP:0002716", + "Adrenal overactivity": "HP:0002717", + "Recurrent bacterial infections": "HP:0002718", + "Bacterial infections, recurrent": "HP:0002718", + "Frequent bacterial infections": "HP:0002718", + "Frequent pyogenic infections": "HP:0002718", + "Increased susceptibility to bacterial infections": "HP:0002718", + "Recurrent major bacterial infections": "HP:0002718", + "Recurrent pyogenic infections": "HP:0002718", + "Susceptibility to pyogenic infection": "HP:0002718", + "Prone to bacterial infection": "HP:0002718", + "Recurrent infections": "HP:0002719", + "Frequent infections": "HP:0002719", + "Frequent, severe infections": "HP:0002719", + "Increased frequency of infection": "HP:0002719", + "Predisposition to infections": "HP:0002719", + "Susceptibility to infection": "HP:0002719", + "infections, recurrent": "HP:0002719", + "Decreased circulating IgA concentration": "HP:0002720", + "Decreased IgA": "HP:0002720", + "Decreased circulating IgA level": "HP:0002720", + "Decreased immunoglobulin A": "HP:0002720", + "Gamma-A globulin deficiency": "HP:0002720", + "IgA deficiency": "HP:0002720", + "Low levels of immunoglobulin A": "HP:0002720", + "Reduced IgA levels": "HP:0002720", + "Immunodeficiency": "HP:0002721", + "Decreased immune function": "HP:0002721", + "Immune deficiency": "HP:0002721", + "Recurrent abscess formation": "HP:0002722", + "Absence of bactericidal oxidative respiratory burst in phagocytes": "HP:0002723", + "Recurrent Aspergillus infections": "HP:0002724", + "Aspergillus infections, recurrent": "HP:0002724", + "Systemic lupus erythematosus": "HP:0002725", + "SLE": "HP:0002725", + "Recurrent Staphylococcus aureus infections": "HP:0002726", + "Staphylococcus aureus infections, recurrent": "HP:0002726", + "Chronic mucocutaneous candidiasis": "HP:0002728", + "Chronic candidiasis of mucosa, skin and nails": "HP:0002728", + "Mucocutaneous candidiasis": "HP:0002728", + "Follicular hyperplasia": "HP:0002729", + "Chronic noninfectious lymphadenopathy": "HP:0002730", + "Decreased lymphocyte apoptosis": "HP:0002731", + "Defective lymphocyte apoptosis": "HP:0002731", + "Lymph node hypoplasia": "HP:0002732", + "Small lymph nodes": "HP:0002732", + "Abnormal lymph node morphology": "HP:0002733", + "Abnormal lymph node histology": "HP:0002733", + "Abnormality of the lymph nodes": "HP:0002733", + "Thick skull base": "HP:0002737", + "Increased thickness of bone of skull base": "HP:0002737", + "Increased thickness of skull base": "HP:0002737", + "Hypoplastic frontal sinuses": "HP:0002738", + "Decreased volume of frontal sinuses": "HP:0002738", + "Small frontal sinuses": "HP:0002738", + "Underdeveloped frontal sinuses": "HP:0002738", + "Decreased pneumatization of frontal sinus": "HP:0002738", + "Hypotrophic frontal sinus": "HP:0002738", + "Recurrent E. coli infections": "HP:0002740", + "E coli infections": "HP:0002740", + "E coli infections, recurrent": "HP:0002740", + "Recurrent Serratia marcescens infections": "HP:0002741", + "Recurrent Klebsiella infections": "HP:0002742", + "Klebsiella infections, recurrent": "HP:0002742", + "Recurrent enteroviral infections": "HP:0002743", + "obsolete Bilateral cleft lip and palate": "HP:0002744", + "Oral leukoplakia": "HP:0002745", + "Oral idiopathic keratosis": "HP:0002745", + "Oral idiopathic leukoplakia": "HP:0002745", + "Oral idiopathic white patch": "HP:0002745", + "Oral leucoplakia": "HP:0002745", + "Oral leukokeratosis": "HP:0002745", + "Oral leukoplasia": "HP:0002745", + "Oral white patch": "HP:0002745", + "Oral white plaque": "HP:0002745", + "leukokeratosis": "HP:0002745", + "Respiratory insufficiency due to muscle weakness": "HP:0002747", + "Decreased lung function due to weak breathing muscles": "HP:0002747", + "Decreased respiratory function due to muscle weakness": "HP:0002747", + "Respiratory distress due to muscle weakness": "HP:0002747", + "Respiratory failure due to muscle weakness": "HP:0002747", + "Respiratory muscle weakness": "HP:0002747", + "Rickets": "HP:0002748", + "Weak and soft bones": "HP:0002748", + "Osteomalacia": "HP:0002749", + "Softening of the bones": "HP:0002749", + "Delayed skeletal maturation": "HP:0002750", + "Delayed bone age": "HP:0002750", + "Delayed bone age before puberty": "HP:0002750", + "Delayed bone maturation": "HP:0002750", + "Delayed skeletal development": "HP:0002750", + "Retarded bone age": "HP:0002750", + "Skeletal maturation retardation": "HP:0002750", + "Retarded ossification": "HP:0002750", + "Kyphoscoliosis": "HP:0002751", + "Sparse bone trabeculae": "HP:0002752", + "Thin bony cortex": "HP:0002753", + "Thin cortices": "HP:0002753", + "Osteomyelitis": "HP:0002754", + "Bone infection": "HP:0002754", + "obsolete Osteomyelitis due to immunodeficiency": "HP:0002755", + "Pathologic fracture": "HP:0002756", + "Spontaneous fracture": "HP:0002756", + "Pathologic fractures": "HP:0002756", + "Spontaneous fractures": "HP:0002756", + "Recurrent fractures": "HP:0002757", + "Frequent fractures": "HP:0002757", + "Increased fracture rate": "HP:0002757", + "Increased fractures": "HP:0002757", + "Multiple fractures": "HP:0002757", + "Multiple spontaneous fractures": "HP:0002757", + "Varying degree of multiple fractures": "HP:0002757", + "Osteoarthritis": "HP:0002758", + "Degenerative joint disease": "HP:0002758", + "Generalized joint hypermobility": "HP:0002761", + "Generalised joint laxity": "HP:0002761", + "Generalized joint laxity": "HP:0002761", + "Hypermobility of all joints": "HP:0002761", + "Joint laxity, generalised": "HP:0002761", + "Joint laxity, generalized": "HP:0002761", + "Multiple exostoses": "HP:0002762", + "Abnormal cartilage morphology": "HP:0002763", + "Abnormal shape of cartilage": "HP:0002763", + "Abnormality of cartilage morphology": "HP:0002763", + "Stippled chondral calcification": "HP:0002764", + "Relatively short spine": "HP:0002766", + "obsolete Small vertebral bodies": "HP:0002773", + "Tracheal stenosis": "HP:0002777", + "Narrowing of windpipe": "HP:0002777", + "Abnormal tracheal morphology": "HP:0002778", + "Abnormal trachea morphology": "HP:0002778", + "Abnormality of the trachea": "HP:0002778", + "Tracheal disease": "HP:0002778", + "Tracheomalacia": "HP:0002779", + "Floppy windpipe": "HP:0002779", + "Bronchomalacia": "HP:0002780", + "Upper airway obstruction": "HP:0002781", + "Recurrent lower respiratory tract infections": "HP:0002783", + "Chronic lung infections": "HP:0002783", + "Lower respiratory tract infections": "HP:0002783", + "Recurrent chest infections": "HP:0002783", + "Tracheobronchomalacia": "HP:0002786", + "Tracheal calcification": "HP:0002787", + "Calcification of the trachea": "HP:0002787", + "Tracheal calcifications": "HP:0002787", + "Tracheal ectopic calcification": "HP:0002787", + "Recurrent upper respiratory tract infections": "HP:0002788", + "Frequent upper respiratory infections": "HP:0002788", + "Frequent upper respiratory tract infections": "HP:0002788", + "Recurrent URI": "HP:0002788", + "Recurrent colds": "HP:0002788", + "Recurrent upper respiratory and lower respiratory infections": "HP:0002788", + "Recurrent upper respiratory infection": "HP:0002788", + "Recurrent upper respiratory infections": "HP:0002788", + "Upper respiratory tract infections": "HP:0002788", + "Upper respiratory tract infections, recurrent": "HP:0002788", + "Tachypnea": "HP:0002789", + "Increased respiratory rate or depth of breathing": "HP:0002789", + "Polypnea": "HP:0002789", + "Neonatal breathing dysregulation": "HP:0002790", + "Impaired breathing in newborn": "HP:0002790", + "Hypoventilation": "HP:0002791", + "Alveolar hypoventilation": "HP:0002791", + "Slow breathing": "HP:0002791", + "Under breathing": "HP:0002791", + "Respiratory depression": "HP:0002791", + "Reduced vital capacity": "HP:0002792", + "Decreased vital capacity": "HP:0002792", + "Abnormal pattern of respiration": "HP:0002793", + "Abnormal respiratory patterns": "HP:0002793", + "Unusual breathing patterns": "HP:0002793", + "Abnormal respiratory system physiology": "HP:0002795", + "Abnormal respiration": "HP:0002795", + "Functional respiratory abnormality": "HP:0002795", + "Impaired pulmonary function": "HP:0002795", + "Respiratory problem": "HP:0002795", + "Osteolysis": "HP:0002797", + "Breakdown of bone": "HP:0002797", + "Increased bone resorption": "HP:0002797", + "Osteolytic defects of bones": "HP:0002797", + "Congenital contracture": "HP:0002803", + "Congenital joint contractures": "HP:0002803", + "congenital contractures": "HP:0002803", + "Arthrogryposis multiplex congenita": "HP:0002804", + "Arthrogryposis": "HP:0002804", + "Arthrogryposis multiplex": "HP:0002804", + "Arthrogryposis, congenital": "HP:0002804", + "Multiple congenital contractures": "HP:0002804", + "Accelerated bone age after puberty": "HP:0002805", + "Kyphosis": "HP:0002808", + "Gibbus deformity": "HP:0002808", + "Hunched back": "HP:0002808", + "Hyperkyphosis": "HP:0002808", + "Round back": "HP:0002808", + "Dumbbell-shaped metaphyses": "HP:0002810", + "Dumbbell shaped metaphyses": "HP:0002810", + "Dumbbell shaped metaphysis": "HP:0002810", + "Dumbbell shaped wide portion of long bone": "HP:0002810", + "Coxa vara": "HP:0002812", + "Abnormal limb bone morphology": "HP:0002813", + "Abnormal shape of limb bone": "HP:0002813", + "Abnormality of limb bone morphology": "HP:0002813", + "Arm and/or leg bone differences": "HP:0002813", + "Limb abnormality": "HP:0002813", + "Abnormality of the lower limb": "HP:0002814", + "Abnormality of the leg": "HP:0002814", + "Lower limb deformities": "HP:0002814", + "Abnormality of the knee": "HP:0002815", + "Genu recurvatum": "HP:0002816", + "Back knee": "HP:0002816", + "Genu recurvata": "HP:0002816", + "Knee hyperextension": "HP:0002816", + "Abnormality of the upper limb": "HP:0002817", + "Abnormality of the arm": "HP:0002817", + "Abnormal morphology of the radius": "HP:0002818", + "Abnormality of the radius": "HP:0002818", + "Neuropathic arthropathy": "HP:0002821", + "Charcot arthropathy": "HP:0002821", + "Charcot joint": "HP:0002821", + "Hyperplasia of the femoral trochanters": "HP:0002822", + "Hyperplastic femoral trochanters": "HP:0002822", + "Abnormal femur morphology": "HP:0002823", + "Abnormality of femur morphology": "HP:0002823", + "Abnormality of the femora": "HP:0002823", + "Abnormality of the thighbone": "HP:0002823", + "Caudal appendage": "HP:0002825", + "Coccygeal tail": "HP:0002825", + "Human tail": "HP:0002825", + "Sacral appendage": "HP:0002825", + "Halberd-shaped pelvis": "HP:0002826", + "Halberd-shaped pelvis bone": "HP:0002826", + "Hip dislocation": "HP:0002827", + "Dislocated femoral heads": "HP:0002827", + "Dislocated hips": "HP:0002827", + "Dislocation of hip": "HP:0002827", + "Dislocation of the femoral head": "HP:0002827", + "Multiple joint contractures": "HP:0002828", + "Arthralgia": "HP:0002829", + "Arthralgias": "HP:0002829", + "Joint pain": "HP:0002829", + "Arthritic pain": "HP:0002829", + "Joint pains": "HP:0002829", + "Long coccyx": "HP:0002831", + "Long tailbone": "HP:0002831", + "Calcific stippling": "HP:0002832", + "Discrete calcific stippling": "HP:0002832", + "Cystic angiomatosis of bone": "HP:0002833", + "Lytic cystic lesions in appendicular bones": "HP:0002833", + "Flared femoral metaphysis": "HP:0002834", + "Flared metaphysis of thigh bone": "HP:0002834", + "Aspiration": "HP:0002835", + "Pulmonary aspiration": "HP:0002835", + "Bladder exstrophy": "HP:0002836", + "Ectopia vesicae": "HP:0002836", + "Recurrent bronchitis": "HP:0002837", + "Bronchitis, recurrent": "HP:0002837", + "Urinary bladder sphincter dysfunction": "HP:0002839", + "Sphincter disturbance": "HP:0002839", + "Sphincter disturbances": "HP:0002839", + "Lymphadenitis": "HP:0002840", + "Inflammation of the lymph nodes": "HP:0002840", + "Recurrent fungal infections": "HP:0002841", + "Recurrent Burkholderia cepacia infections": "HP:0002842", + "Abnormal T cell morphology": "HP:0002843", + "Abnormal T cells": "HP:0002843", + "Abnormality of T cells": "HP:0002843", + "Cellular immune defect": "HP:0002843", + "Defective cellular immunity": "HP:0002843", + "obsolete Increased proportion of peripheral CD3+ T cells": "HP:0002845", + "Abnormal B cell morphology": "HP:0002846", + "Abnormal B cells": "HP:0002846", + "Abnormality of B cells": "HP:0002846", + "Impaired memory B cell generation": "HP:0002847", + "Decreased specific anti-polysaccharide antibody level": "HP:0002848", + "Depressed antibody response to polysaccharide antigens": "HP:0002848", + "Low specific anti-polysaccharide antibody titer": "HP:0002848", + "Specific anti-polysaccharide antibody deficiency": "HP:0002848", + "Absence of lymph node germinal center": "HP:0002849", + "Absence of lymph node germinal centre": "HP:0002849", + "Lymph nodes lack germinal center": "HP:0002849", + "Lymph nodes lack germinal centre": "HP:0002849", + "Lymphoid germinal center defect": "HP:0002849", + "Lymphoid germinal centre defect": "HP:0002849", + "Decreased circulating total IgM": "HP:0002850", + "Decreased IgM": "HP:0002850", + "Decreased IgM level": "HP:0002850", + "IgM deficiency": "HP:0002850", + "Reduced IgM levels": "HP:0002850", + "Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells": "HP:0002851", + "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors": "HP:0002851", + "Increased proportion of HLA DR+ T cells": "HP:0002853", + "Genu valgum": "HP:0002857", + "Genu valga": "HP:0002857", + "Genu valgus": "HP:0002857", + "Genua valga": "HP:0002857", + "Knee joint valgus deformity": "HP:0002857", + "Knock knees": "HP:0002857", + "Meningioma": "HP:0002858", + "Noncancerous growth of membranes covering brain": "HP:0002858", + "Rhabdomyosarcoma": "HP:0002859", + "Squamous cell carcinoma": "HP:0002860", + "Squamous cell cancer": "HP:0002860", + "Melanoma": "HP:0002861", + "Cancer of skin pigment cells": "HP:0002861", + "Skin cancer (melanoma)": "HP:0002861", + "Malignant melanoma": "HP:0002861", + "Bladder carcinoma": "HP:0002862", + "Myelodysplasia": "HP:0002863", + "Myelodysplastic syndrome": "HP:0002863", + "Hypoplastic myelodysplasia": "HP:0002863", + "Paraganglioma of head and neck": "HP:0002864", + "Paragangliomas, head and neck": "HP:0002864", + "Medullary thyroid carcinoma": "HP:0002865", + "Medullary thyroid cancer": "HP:0002865", + "Hypoplastic iliac wing": "HP:0002866", + "Hypoplastic iliac alae": "HP:0002866", + "Hypoplastic iliac wings": "HP:0002866", + "Small iliac wings": "HP:0002866", + "Abnormal ilium morphology": "HP:0002867", + "Abnormality of the ilium": "HP:0002867", + "Iliac abnormalities": "HP:0002867", + "Narrow iliac wing": "HP:0002868", + "Narrow iliac wings": "HP:0002868", + "Flared iliac wing": "HP:0002869", + "Flared iliac wings": "HP:0002869", + "Obstructive sleep apnea": "HP:0002870", + "Obstructive sleep apnoea": "HP:0002870", + "Central apnea": "HP:0002871", + "Central apnoea": "HP:0002871", + "Apneic episodes precipitated by illness, fatigue, stress": "HP:0002872", + "Episodic apnea induced by febrile illness or stress": "HP:0002872", + "Exertional dyspnea": "HP:0002875", + "Exertional breathlessness": "HP:0002875", + "Exertional dyspnoea": "HP:0002875", + "Shortness of breathing upon physical activity": "HP:0002875", + "Episodic tachypnea": "HP:0002876", + "Hyperpnea, episodic": "HP:0002876", + "Nocturnal hypoventilation": "HP:0002877", + "Hypoventilation during sleep": "HP:0002877", + "Nocturnal hypopnea": "HP:0002877", + "Nocturnal slow breathing": "HP:0002877", + "Nocturnal under breathing": "HP:0002877", + "Respiratory failure": "HP:0002878", + "Anisospondyly": "HP:0002879", + "obsolete Respiratory difficulties": "HP:0002880", + "Sudden episodic apnea": "HP:0002882", + "Hyperventilation": "HP:0002883", + "Rapid breathing": "HP:0002883", + "Hepatoblastoma": "HP:0002884", + "Medulloblastoma": "HP:0002885", + "Vagal paraganglioma": "HP:0002886", + "Glomus vagale tumor": "HP:0002886", + "Glomus vagale tumour": "HP:0002886", + "Vagal nerve tumors": "HP:0002886", + "Vagal nerve tumours": "HP:0002886", + "Glomus vagale paraganglioma": "HP:0002886", + "Ependymoma": "HP:0002888", + "Thyroid carcinoma": "HP:0002890", + "Uterine leiomyosarcoma": "HP:0002891", + "Pituitary adenoma": "HP:0002893", + "Noncancerous tumor in pituitary gland": "HP:0002893", + "Noncancerous tumour in pituitary gland": "HP:0002893", + "Pituitary gland adenoma": "HP:0002893", + "Neoplasm of the pancreas": "HP:0002894", + "Cancer of the pancreas": "HP:0002894", + "Pancreatic cancer": "HP:0002894", + "Neoplasia of the pancreas": "HP:0002894", + "Pancreatic tumor": "HP:0002894", + "Pancreatic tumour": "HP:0002894", + "increased risk of pancreatic cancer": "HP:0002894", + "Papillary thyroid carcinoma": "HP:0002895", + "Papillary carcinoma of thyroid": "HP:0002895", + "Thyroid papillary carcinoma": "HP:0002895", + "Neoplasm of the liver": "HP:0002896", + "Liver cancer": "HP:0002896", + "Liver tumor": "HP:0002896", + "Liver tumour": "HP:0002896", + "Parathyroid adenoma": "HP:0002897", + "Parathyroid adenomas": "HP:0002897", + "Embryonal neoplasm": "HP:0002898", + "Embryonal neoplasia": "HP:0002898", + "Embryonal tumors": "HP:0002898", + "Embryonal tumours": "HP:0002898", + "Hypokalemia": "HP:0002900", + "Low blood potassium levels": "HP:0002900", + "Hypocalcemia": "HP:0002901", + "Hypocalcaemia": "HP:0002901", + "Low blood calcium levels": "HP:0002901", + "Hyponatremia": "HP:0002902", + "Low blood sodium levels": "HP:0002902", + "Hyperbilirubinemia": "HP:0002904", + "High blood bilirubin levels": "HP:0002904", + "Hyperphosphatemia": "HP:0002905", + "High blood phosphate levels": "HP:0002905", + "Microscopic hematuria": "HP:0002907", + "Microhematuria": "HP:0002907", + "Occult hematuria": "HP:0002907", + "Small amount of blood in urine": "HP:0002907", + "Conjugated hyperbilirubinemia": "HP:0002908", + "Direct hyperbilirubinemia": "HP:0002908", + "Generalized aminoaciduria": "HP:0002909", + "Generalised aminoaciduria": "HP:0002909", + "Generalised nonspecific aminoaciduria": "HP:0002909", + "Generalized nonspecific aminoaciduria": "HP:0002909", + "Elevated circulating hepatic transaminase concentration": "HP:0002910", + "Abnormal liver enzymes": "HP:0002910", + "Abnormal liver function": "HP:0002910", + "Abnormal liver function tests": "HP:0002910", + "Elevated circulating hepatic transaminase activity": "HP:0002910", + "Elevated liver enzymes": "HP:0002910", + "Elevated serum transaminases": "HP:0002910", + "Elevated transaminases": "HP:0002910", + "High liver enzymes": "HP:0002910", + "Increased liver enzymes": "HP:0002910", + "Increased liver function tests": "HP:0002910", + "Increased transaminases": "HP:0002910", + "Raised liver enzymes": "HP:0002910", + "Subclinical abnormal liver function tests": "HP:0002910", + "Elevated liver function tests": "HP:0002910", + "Methylmalonic acidemia": "HP:0002912", + "Elevated circulating methylmalonic acid concentration": "HP:0002912", + "Myoglobinuria": "HP:0002913", + "Hyperchloriduria": "HP:0002914", + "Increased urinary chloride": "HP:0002914", + "Abnormality of chromosome segregation": "HP:0002916", + "Hypomagnesemia": "HP:0002917", + "Low blood Mg levels": "HP:0002917", + "Low blood magnesium levels": "HP:0002917", + "Hypermagnesemia": "HP:0002918", + "High blood Mg levels": "HP:0002918", + "High blood magnesium levels": "HP:0002918", + "Ketonuria": "HP:0002919", + "Ketonaciduria": "HP:0002919", + "Ketone bodies in urine": "HP:0002919", + "Acetonuria": "HP:0002919", + "Ketoaciduria": "HP:0002919", + "Decreased circulating ACTH concentration": "HP:0002920", + "Abnormal cerebrospinal fluid morphology": "HP:0002921", + "Abnormal CSF findings": "HP:0002921", + "Abnormality of the CSF": "HP:0002921", + "Abnormality of the cerebrospinal fluid": "HP:0002921", + "Increased CSF protein concentration": "HP:0002922", + "Cerebrospinal fluid protein increased": "HP:0002922", + "Cerebrospinal fluid with increased protein": "HP:0002922", + "Elevated cerebrospinal fluid protein": "HP:0002922", + "Elevated csf protein": "HP:0002922", + "Hyperproteinorrhachia": "HP:0002922", + "Increased CSF protein": "HP:0002922", + "Increased protein in csf": "HP:0002922", + "Spinal fluid protein elevated": "HP:0002922", + "Rheumatoid factor positive": "HP:0002923", + "obsolete Decreased circulating aldosterone level": "HP:0002924", + "Elevated circulating thyroid-stimulating hormone concentration": "HP:0002925", + "Elevated thyroid stimulating hormone": "HP:0002925", + "Elevated thyroid stimulating hormone levels": "HP:0002925", + "High TSH": "HP:0002925", + "Increased serum thyroid-stimulating hormone": "HP:0002925", + "Increased thyroid-stimulating hormone": "HP:0002925", + "Increased thyroid-stimulating hormone level": "HP:0002925", + "Increased thyrotropin level": "HP:0002925", + "TSH excess": "HP:0002925", + "Thyroid-stimulating hormone excess": "HP:0002925", + "Abnormality of thyroid physiology": "HP:0002926", + "Abnormal thyroid function": "HP:0002926", + "Histidinuria": "HP:0002927", + "Elevated histidine in urine": "HP:0002927", + "High urine histidine levels": "HP:0002927", + "Decreased activity of the pyruvate dehydrogenase complex": "HP:0002928", + "Decreased activity of the PDH complex": "HP:0002928", + "Pyruvate dehydrogenase complex deficiency": "HP:0002928", + "Leydig cell insensitivity to gonadotropin": "HP:0002929", + "Impaired sensitivity to thyroid hormone": "HP:0002930", + "Elevated serum levels of free thyroid hormone with nonsuppressed TSH": "HP:0002930", + "End-organ unresponsiveness to thyroid hormone": "HP:0002930", + "Resistance to thyroid hormone": "HP:0002930", + "Thyroid hormone receptor defect": "HP:0002930", + "Thyroid hormone resistance": "HP:0002930", + "Aldehyde oxidase deficiency": "HP:0002932", + "Ventral hernia": "HP:0002933", + "Distal sensory impairment": "HP:0002936", + "Decreased distal sensation": "HP:0002936", + "Decreased sensation in extremities": "HP:0002936", + "Distal sensation loss": "HP:0002936", + "Distal sensory impairment in lower limbs": "HP:0002936", + "Distal sensory impairment of the lower extremities": "HP:0002936", + "Distal sensory loss": "HP:0002936", + "Distal sensory loss, upper and lower limbs": "HP:0002936", + "Loss of distal sensation": "HP:0002936", + "Hemivertebrae": "HP:0002937", + "Hemi-vertebrae": "HP:0002937", + "Hemivertebra": "HP:0002937", + "Missing part of vertebrae": "HP:0002937", + "Lumbar hyperlordosis": "HP:0002938", + "Exaggerated lumbar lordosis": "HP:0002938", + "Excessive inward curvature of lower spine": "HP:0002938", + "Increased lumbar lordosis": "HP:0002938", + "Lumbar lordosis": "HP:0002938", + "Prominent lumbar lordosis": "HP:0002938", + "Thoracic kyphosis": "HP:0002942", + "Accentuated thoracic kyphosis": "HP:0002942", + "Exaggerated thoracic kyphosis": "HP:0002942", + "Thoracic scoliosis": "HP:0002943", + "Thoracolumbar scoliosis": "HP:0002944", + "Scoliosis, thoracolumbar": "HP:0002944", + "Intervertebral space narrowing": "HP:0002945", + "Narrow intervertebral disc spaces": "HP:0002945", + "Narrow intervertebral disk spaces": "HP:0002945", + "Narrow intervertebral spaces": "HP:0002945", + "Supernumerary vertebrae": "HP:0002946", + "Cervical kyphosis": "HP:0002947", + "Rounded neck": "HP:0002947", + "Vertebral fusion": "HP:0002948", + "Congenital spinal fusion": "HP:0002948", + "Congenitally fused vertebrae": "HP:0002948", + "Fusion of vertebral bodies": "HP:0002948", + "Vertebral body fusion": "HP:0002948", + "Fused cervical vertebrae": "HP:0002949", + "Cervical spine fusion": "HP:0002949", + "Cervical vertebral fusion": "HP:0002949", + "Fused neck": "HP:0002949", + "Fusion of cervical vertebrae": "HP:0002949", + "Partial absence of cerebellar vermis": "HP:0002951", + "Vertebral compression fracture": "HP:0002953", + "Compression fracture of a vertebral body": "HP:0002953", + "Fractures of vertebral bodies": "HP:0002953", + "Vertebral body compression": "HP:0002953", + "Vertebral collapse": "HP:0002953", + "Vertebral compression": "HP:0002953", + "Vertebral compression fractures": "HP:0002953", + "Vertebral compression or collapse": "HP:0002953", + "Granulomatosis": "HP:0002955", + "Immune dysregulation": "HP:0002958", + "Unregulated immune response": "HP:0002958", + "Impaired Ig class switch recombination": "HP:0002959", + "Impaired B-lymphocyte isotype switching": "HP:0002959", + "Autoimmunity": "HP:0002960", + "Autoimmune condition": "HP:0002960", + "Autoimmune disease": "HP:0002960", + "Autoimmune disorder": "HP:0002960", + "Dysgammaglobulinemia": "HP:0002961", + "Abnormal delayed hypersensitivity skin test": "HP:0002963", + "Cutaneous anergy": "HP:0002965", + "Absence of delayed hypersensitivity skin test": "HP:0002965", + "Lack of delayed skin hypersensitivity reaction": "HP:0002965", + "Cubitus valgus": "HP:0002967", + "Outward turned elbows": "HP:0002967", + "Genu varum": "HP:0002970", + "Genu vara": "HP:0002970", + "Genua vara": "HP:0002970", + "Outward bow-leggedness": "HP:0002970", + "Outward bowing at knees": "HP:0002970", + "Absent microvilli on the surface of peripheral blood lymphocytes": "HP:0002971", + "Reduced delayed hypersensitivity": "HP:0002972", + "Decreased reactivity to skin test antigens": "HP:0002972", + "Deficiency of delayed skin hypersensitivity": "HP:0002972", + "Impaired delayed hypersensitivity": "HP:0002972", + "Abnormal forearm morphology": "HP:0002973", + "Abnormality of the forearm": "HP:0002973", + "Radioulnar synostosis": "HP:0002974", + "Fused forearm bones": "HP:0002974", + "Aplasia/Hypoplasia involving the central nervous system": "HP:0002977", + "Absent/underdeveloped central nervous system tissue": "HP:0002977", + "Aplasia/Hypoplasia involving the CNS": "HP:0002977", + "Bowing of the legs": "HP:0002979", + "Bow legs": "HP:0002979", + "Bow-leggedness": "HP:0002979", + "Bowed legs": "HP:0002979", + "Bowed lower limbs": "HP:0002979", + "Femoral bowing": "HP:0002980", + "Bowed femur": "HP:0002980", + "Bowed femura": "HP:0002980", + "Bowed femurs": "HP:0002980", + "Bowed thighbone": "HP:0002980", + "Abnormality of the calf": "HP:0002981", + "Tibial bowing": "HP:0002982", + "Bowed shankbone": "HP:0002982", + "Bowed shinbone": "HP:0002982", + "Bowed tibia": "HP:0002982", + "Bowing of the tibia": "HP:0002982", + "Micromelia": "HP:0002983", + "Smaller or shorter than typical limbs": "HP:0002983", + "Hypoplasia of the radius": "HP:0002984", + "Hypoplastic radii": "HP:0002984", + "Hypoplastic radius": "HP:0002984", + "Radial hypoplasia": "HP:0002984", + "Short radii": "HP:0002984", + "Short radius": "HP:0002984", + "Shortening of radius": "HP:0002984", + "Underdeveloped outer large forearm bone": "HP:0002984", + "Radial ray hypoplasia": "HP:0002984", + "Radial bowing": "HP:0002986", + "Bowed radii": "HP:0002986", + "Bowed radius": "HP:0002986", + "Bowing of outer large bone of the forearm": "HP:0002986", + "Bowing of radius bone of the forearm": "HP:0002986", + "Elbow flexion contracture": "HP:0002987", + "Elbow flexion contractures": "HP:0002987", + "Elbow flexion deformity": "HP:0002987", + "Fixed flexion at the elbow joint": "HP:0002987", + "Fibular aplasia": "HP:0002990", + "Absent calf bone": "HP:0002990", + "Absent fibulae": "HP:0002990", + "Absent-hypoplastic fibulae": "HP:0002990", + "Abnormal fibula morphology": "HP:0002991", + "Abnormality of fibula morphology": "HP:0002991", + "Abnormality of the calf bone": "HP:0002991", + "Abnormal tibia morphology": "HP:0002992", + "Abnormality of the shankbone": "HP:0002992", + "Abnormality of the shinbone": "HP:0002992", + "Abnormality of tibia morphology": "HP:0002992", + "Limited elbow movement": "HP:0002996", + "Decreased elbow mobility": "HP:0002996", + "Limited elbow mobility": "HP:0002996", + "Restricted elbow motion": "HP:0002996", + "obsolete Abnormality of the ulna": "HP:0002997", + "Patellar dislocation": "HP:0002999", + "Dislocated kneecap": "HP:0002999", + "Dislocated patellae": "HP:0002999", + "Dislocation of patella": "HP:0002999", + "Glomus jugular tumor": "HP:0003001", + "Glomus jugular tumour": "HP:0003001", + "Glomus jugulare tumor": "HP:0003001", + "Glomus jugulare tumors": "HP:0003001", + "Glomus jugulare tumour": "HP:0003001", + "Glomus jugulare tumours": "HP:0003001", + "Breast carcinoma": "HP:0003002", + "Breast cancer": "HP:0003002", + "Colon cancer": "HP:0003003", + "Ganglioneuroma": "HP:0003005", + "Neuroblastoma": "HP:0003006", + "Cancer of early nerve cells": "HP:0003006", + "Enhanced neurotoxicity of vincristine": "HP:0003009", + "Prolonged bleeding time": "HP:0003010", + "Increased bleeding time": "HP:0003010", + "Abnormality of the musculature": "HP:0003011", + "Muscular abnormality": "HP:0003011", + "Bulging epiphyses": "HP:0003013", + "Bulging end part of bone": "HP:0003013", + "Flared metaphysis": "HP:0003015", + "Flared wide portion of long bone": "HP:0003015", + "Flared, widened metaphyses": "HP:0003015", + "Metaphyseal flaring": "HP:0003015", + "Metaphyseal flaring of long bones": "HP:0003015", + "Metaphyseal splaying": "HP:0003015", + "Metaphyses flared": "HP:0003015", + "Splayed metaphyses": "HP:0003015", + "marked metaphyseal flaring of long bones": "HP:0003015", + "Metaphyseal widening": "HP:0003016", + "Broad wide portion of long bone": "HP:0003016", + "Wide metaphyses": "HP:0003016", + "Widened long bone metaphyses": "HP:0003016", + "Widened metaphyses": "HP:0003016", + "Abnormality of the wrist": "HP:0003019", + "Abnormalities of the wrists": "HP:0003019", + "Enlargement of the wrists": "HP:0003020", + "Metaphyseal cupping": "HP:0003021", + "Hypoplasia of the ulna": "HP:0003022", + "Hypoplastic ulna": "HP:0003022", + "Short ulna": "HP:0003022", + "Short ulnae": "HP:0003022", + "Ulnar hypoplasia": "HP:0003022", + "Underdeveloped inner large forearm bone": "HP:0003022", + "Underdeveloped ulna": "HP:0003022", + "Bowing of limbs due to multiple fractures": "HP:0003023", + "Bowed limbs due to multiple fractures": "HP:0003023", + "Metaphyseal irregularity": "HP:0003025", + "Frayed, irregular metaphyses": "HP:0003025", + "Frayed, irregular, metaphyses": "HP:0003025", + "Irregular metaphyses": "HP:0003025", + "Irregular wide portion of a long bone": "HP:0003025", + "Metaphyseal fraying": "HP:0003025", + "Metaphyseal irregularities": "HP:0003025", + "Short long bone": "HP:0003026", + "Long bone shortening": "HP:0003026", + "Short tubular bones": "HP:0003026", + "shortened long tubular bones": "HP:0003026", + "Mesomelia": "HP:0003027", + "Disproportionately short middle portion of limb": "HP:0003027", + "Mesomelic limb shortening": "HP:0003027", + "Mesomelic shortening of limbs": "HP:0003027", + "Symmetric mesomelic limb shortness": "HP:0003027", + "Abnormality of the ankle": "HP:0003028", + "Abnormality of the ankles": "HP:0003028", + "Enlargement of the ankles": "HP:0003029", + "Ulnar bowing": "HP:0003031", + "Bowed ulna": "HP:0003031", + "Curved ulna": "HP:0003031", + "Curving of inner forearm bone": "HP:0003031", + "Diaphyseal sclerosis": "HP:0003034", + "Craniodiaphyseal osteosclerosis": "HP:0003034", + "Diaphyseal osteosclerosis": "HP:0003034", + "Increased bone density in shaft of long bone": "HP:0003034", + "Enlarged joints": "HP:0003037", + "Prominent joints": "HP:0003037", + "Fibular hypoplasia": "HP:0003038", + "Hypoplastic fibula": "HP:0003038", + "Short calf bone": "HP:0003038", + "Short fibula": "HP:0003038", + "Short fibulae": "HP:0003038", + "Arthropathy": "HP:0003040", + "Disease of the joints": "HP:0003040", + "Humeroradial synostosis": "HP:0003041", + "Fusion of upper and lower arm bones": "HP:0003041", + "Humeral radial synostosis": "HP:0003041", + "Humeral-radial synostosis": "HP:0003041", + "Radiohumeral synostosis of elbow": "HP:0003041", + "Synostosis of radius and humerus": "HP:0003041", + "Elbow dislocation": "HP:0003042", + "Dislocations of the elbows": "HP:0003042", + "Elbow dislocations": "HP:0003042", + "Radiocapitellar dislocation": "HP:0003042", + "Radiohumeral dislocation": "HP:0003042", + "Ulnohumeral dislocation": "HP:0003042", + "Abnormal shoulder morphology": "HP:0003043", + "Abnormality of the shoulder": "HP:0003043", + "Shoulder flexion contracture": "HP:0003044", + "Abnormal patella morphology": "HP:0003045", + "Abnormal kneecap": "HP:0003045", + "Abnormality of the patella": "HP:0003045", + "Patellar abnormality": "HP:0003045", + "Radial head subluxation": "HP:0003048", + "Radial subluxation": "HP:0003048", + "Radial-head subluxation": "HP:0003048", + "Ulnar deviation of the wrist": "HP:0003049", + "Ulnar deviation of wrists": "HP:0003049", + "Enlarged metaphyses": "HP:0003051", + "Enlarged wide portion of a long bone": "HP:0003051", + "Epiphyseal deformities of tubular bones": "HP:0003053", + "Tetraamelia": "HP:0003057", + "Tetra-amelia": "HP:0003057", + "Abnormality of the radioulnar joints": "HP:0003059", + "obsolete Abnormality of the humerus": "HP:0003063", + "Patellar hypoplasia": "HP:0003065", + "Hypoplastic patellae": "HP:0003065", + "Small kneecap": "HP:0003065", + "Small patella": "HP:0003065", + "Small patellae": "HP:0003065", + "Underdeveloped kneecap": "HP:0003065", + "Limited knee extension": "HP:0003066", + "Madelung deformity": "HP:0003067", + "Madelung wrist deformity": "HP:0003067", + "Madelung-like forearm deformities": "HP:0003068", + "Elbow ankylosis": "HP:0003070", + "Flattened epiphysis": "HP:0003071", + "Flat end part of bone": "HP:0003071", + "Flat epiphyses": "HP:0003071", + "Hypercalcemia": "HP:0003072", + "High blood calcium levels": "HP:0003072", + "Hypercalcaemia": "HP:0003072", + "Increased calcium in blood": "HP:0003072", + "Hypoalbuminemia": "HP:0003073", + "Low albumin": "HP:0003073", + "Hypoalbuminaemia": "HP:0003073", + "Low blood albumin": "HP:0003073", + "Hyperglycemia": "HP:0003074", + "High blood glucose": "HP:0003074", + "High blood sugar": "HP:0003074", + "Hypoproteinemia": "HP:0003075", + "Decreased protein levels in blood": "HP:0003075", + "Glycosuria": "HP:0003076", + "Glucose in urine": "HP:0003076", + "Glucosuria": "HP:0003076", + "Hyperlipidemia": "HP:0003077", + "Elevated lipids in blood": "HP:0003077", + "Defective DNA repair after ultraviolet radiation damage": "HP:0003079", + "Hydroxyprolinuria": "HP:0003080", + "Elevated urinary hydroxyproline": "HP:0003080", + "Increased urinary potassium": "HP:0003081", + "Hyperkaliuresis": "HP:0003081", + "Increased urinary K": "HP:0003081", + "Dislocated radial head": "HP:0003083", + "Congenital radial head dislocation": "HP:0003083", + "Dislocated radius": "HP:0003083", + "Dislocation of radial head": "HP:0003083", + "Dislocation of the radial head": "HP:0003083", + "Radial dislocation": "HP:0003083", + "Radial head dislocation": "HP:0003083", + "Radial head dislocation/subluxation": "HP:0003083", + "Dislocated radial heads": "HP:0003083", + "Recurrent long bone fractures": "HP:0003084", + "Fractures of the long bones": "HP:0003084", + "Increased long bone fracture rate": "HP:0003084", + "Long fibula": "HP:0003085", + "Disproportionately long fibula": "HP:0003085", + "Long calf bone": "HP:0003085", + "Acromesomelia": "HP:0003086", + "Premature osteoarthritis": "HP:0003088", + "Premature arthritis": "HP:0003088", + "Hamstring contractures": "HP:0003089", + "Hypoplasia of the capital femoral epiphysis": "HP:0003090", + "Small capital femoral epiphyses": "HP:0003090", + "Small femoral capital epiphyses": "HP:0003090", + "Small innermost thighbone end part": "HP:0003090", + "Small proximal femoral epiphyses": "HP:0003090", + "Underdevelopment of the innermost thighbone end part": "HP:0003090", + "Trophic limb changes": "HP:0003091", + "Limited hip extension": "HP:0003093", + "Restricted hip extension": "HP:0003093", + "Septic arthritis": "HP:0003095", + "Infected joint": "HP:0003095", + "Short femur": "HP:0003097", + "Femoral hypoplasia": "HP:0003097", + "Hypoplasia of the femora": "HP:0003097", + "Short femurs": "HP:0003097", + "Short thighbone": "HP:0003097", + "Fibular overgrowth": "HP:0003099", + "Overgrowth of calf bone": "HP:0003099", + "Slender long bone": "HP:0003100", + "Gracile long bones": "HP:0003100", + "Long bones slender": "HP:0003100", + "Slender, gracile long tubular bones": "HP:0003100", + "Thin long bones": "HP:0003100", + "Thin, gracile long bones": "HP:0003100", + "Slender long bones": "HP:0003100", + "Thin gracile long bones": "HP:0003100", + "Increased carrying angle": "HP:0003102", + "Abnormal cortical bone morphology": "HP:0003103", + "Abnormal compact bone morphology": "HP:0003103", + "Abnormality of cortical bone": "HP:0003103", + "Protuberances at ends of long bones": "HP:0003105", + "Subperiosteal bone resorption": "HP:0003106", + "Subperiosteal erosions": "HP:0003106", + "Abnormal circulating cholesterol concentration": "HP:0003107", + "Abnormal cholesterol homeostasis": "HP:0003107", + "Abnormality of cholesterol metabolism": "HP:0003107", + "Hyperglycinuria": "HP:0003108", + "Glycinuria": "HP:0003108", + "High urine glycine levels": "HP:0003108", + "Hyperphosphaturia": "HP:0003109", + "High urine phosphate levels": "HP:0003109", + "Phosphaturia": "HP:0003109", + "Abnormality of urine homeostasis": "HP:0003110", + "Pee issues": "HP:0003110", + "Urine issues": "HP:0003110", + "Abnormal blood ion concentration": "HP:0003111", + "Abnormality of ion homeostasis": "HP:0003111", + "Electrolyte disorders": "HP:0003111", + "Electrolyte disturbance": "HP:0003111", + "Abnormal circulating amino acid concentration": "HP:0003112", + "Abnormality of serum amino acid level": "HP:0003112", + "Abnormality of serum amino acid levels": "HP:0003112", + "Hypochloremia": "HP:0003113", + "Low blood chloride levels": "HP:0003113", + "obsolete Abnormal cardiological findings": "HP:0003114", + "Abnormal EKG": "HP:0003115", + "Abnormal ECG": "HP:0003115", + "Abnormal electrocardiogram": "HP:0003115", + "EKG abnormality": "HP:0003115", + "obsolete Abnormal echocardiogram": "HP:0003116", + "Abnormal circulating hormone concentration": "HP:0003117", + "Abnormal circulating hormone level": "HP:0003117", + "Abnormality of circulating hormone level": "HP:0003117", + "Increased circulating cortisol level": "HP:0003118", + "Cushing syndrome": "HP:0003118", + "Hypercortisolism": "HP:0003118", + "Increased cortisol production": "HP:0003118", + "Abnormal circulating lipid concentration": "HP:0003119", + "Dyslipidaemia": "HP:0003119", + "Dyslipidemia": "HP:0003119", + "Limb joint contracture": "HP:0003121", + "Limb contractures": "HP:0003121", + "Hypercholesterolemia": "HP:0003124", + "High cholesterol": "HP:0003124", + "Elevated serum cholesterol": "HP:0003124", + "Elevated total cholesterol": "HP:0003124", + "Increased total cholesterol": "HP:0003124", + "Reduced factor VIII activity": "HP:0003125", + "Factor VIII deficiency": "HP:0003125", + "Low-molecular-weight proteinuria": "HP:0003126", + "Tubular proteinuria": "HP:0003126", + "Hypocalciuria": "HP:0003127", + "Low urine calcium levels": "HP:0003127", + "Lactic acidosis": "HP:0003128", + "Hyperlacticacidemia": "HP:0003128", + "Increased lactate in body": "HP:0003128", + "Lactic acidemia": "HP:0003128", + "Lacticacidemia": "HP:0003128", + "Lacticacidosis": "HP:0003128", + "Abnormal peripheral myelination": "HP:0003130", + "Cystinuria": "HP:0003131", + "High urine cystine levels": "HP:0003131", + "Nitroprusside-cyanide urine test positive": "HP:0003131", + "Abnormality of the spinocerebellar tracts": "HP:0003133", + "Abnormality of peripheral nerve conduction": "HP:0003134", + "Sensory and motor nerve conduction abnormalities": "HP:0003134", + "Abnormal peripheral nerve transmission": "HP:0003134", + "Prolinuria": "HP:0003137", + "Proline high in urine": "HP:0003137", + "Increased blood urea nitrogen": "HP:0003138", + "Increased BUN": "HP:0003138", + "Panhypogammaglobulinemia": "HP:0003139", + "Panhypogammaglobulinaemia": "HP:0003139", + "Panypogammaglobulinemia": "HP:0003139", + "T-wave inversion in the right precordial leads": "HP:0003140", + "Increased LDL cholesterol concentration": "HP:0003141", + "Hyperbetalipoproteinemia": "HP:0003141", + "Increased LDL cholesterol": "HP:0003141", + "Increased LDLc concentration": "HP:0003141", + "Increased beta-lipoproteins": "HP:0003141", + "Increased circulating LDL level": "HP:0003141", + "Increased circulating low-density lipoprotein cholesterol": "HP:0003141", + "Increased circulating low-density lipoprotein levels": "HP:0003141", + "Increased plasma LDL levels": "HP:0003141", + "Excessive purine production": "HP:0003142", + "Increased serum serotonin": "HP:0003144", + "Decreased circulating adenosylcobalamin concentration": "HP:0003145", + "Decreased ADOCBL": "HP:0003145", + "Hypocholesterolemia": "HP:0003146", + "Decreased circulating cholesterol level": "HP:0003146", + "Elevated serum acid phosphatase": "HP:0003148", + "Acid phosphatase elevated": "HP:0003148", + "Hyperuricosuria": "HP:0003149", + "High urine uric acid level": "HP:0003149", + "Increased urinary urate": "HP:0003149", + "Glutaric aciduria": "HP:0003150", + "Glutarate aciduria": "HP:0003150", + "Glutaricaciduria": "HP:0003150", + "Increased glutarate level in urine": "HP:0003150", + "obsolete Increased serum 1,25-dihydroxyvitamin D3": "HP:0003152", + "Cystathioninuria": "HP:0003153", + "High urine cystathionine levels": "HP:0003153", + "Increased circulating ACTH level": "HP:0003154", + "High blood corticotropin levels": "HP:0003154", + "Increased plasma ACTH": "HP:0003154", + "Elevated circulating alkaline phosphatase concentration": "HP:0003155", + "Elevated ALP": "HP:0003155", + "Elevated alkaline phosphatase": "HP:0003155", + "Greatly elevated alkaline phosphatase": "HP:0003155", + "High serum alkaline phosphatase": "HP:0003155", + "Hyperphosphatasemia": "HP:0003155", + "Hyperphosphatasia": "HP:0003155", + "Increased alkaline phosphatase": "HP:0003155", + "Increased serum alkaline phosphatase": "HP:0003155", + "Hyposthenuria": "HP:0003158", + "Reduced urinary osmolality": "HP:0003158", + "Hyperoxaluria": "HP:0003159", + "High urine oxalate levels": "HP:0003159", + "Increased level of oxalate in urine": "HP:0003159", + "Abnormal isoelectric focusing of serum transferrin": "HP:0003160", + "Abnormal isoelectric focusing of transferrin": "HP:0003160", + "Abnormal transferrin isoelectric focusing": "HP:0003160", + "4-Hydroxyphenylpyruvic aciduria": "HP:0003161", + "Hydroxyphenylpyruvic aciduria": "HP:0003161", + "Fasting hypoglycemia": "HP:0003162", + "Low blood sugar when fasting": "HP:0003162", + "Elevated urinary delta-aminolevulinic acid": "HP:0003163", + "Hypothalamic gonadotropin-releasing hormone deficiency": "HP:0003164", + "Hypothalamic GNRH deficiency": "HP:0003164", + "Elevated circulating parathyroid hormone level": "HP:0003165", + "Elevated circulating PTH level": "HP:0003165", + "Elevated serum parathyroid hormone": "HP:0003165", + "Elevated serum parathyroid hormone level": "HP:0003165", + "Elevated serum pth": "HP:0003165", + "Increased serum parathyroid hormone": "HP:0003165", + "Increased urinary taurine": "HP:0003166", + "Carnosinuria": "HP:0003167", + "High urine carnosine levels": "HP:0003167", + "Dibasicaminoaciduria": "HP:0003168", + "Abnormal acetabulum morphology": "HP:0003170", + "Abnormality of the acetabulum": "HP:0003170", + "Abnormality of the hipbone socket": "HP:0003170", + "Acetabular abnormality": "HP:0003170", + "Abnormal pubic bone morphology": "HP:0003172", + "Abnormality of the pubic bone": "HP:0003172", + "Abnormality of the pubic bones": "HP:0003172", + "Abnormality of the pubis": "HP:0003172", + "Hypoplastic pubic bone": "HP:0003173", + "Hypoplastic pubic bones": "HP:0003173", + "Hypoplastic pubis": "HP:0003173", + "Abnormal ischium morphology": "HP:0003174", + "Abnormality of the ischial bones": "HP:0003174", + "Abnormality of the ischium": "HP:0003174", + "Anomaly of the ischium": "HP:0003174", + "Hypoplastic ischia": "HP:0003175", + "Hypoplastic ischial bones": "HP:0003175", + "Hypoplastic ischii": "HP:0003175", + "Hypoplastic ischium": "HP:0003175", + "Squared iliac bones": "HP:0003177", + "Square iliac bones": "HP:0003177", + "Squaring of iliac bones": "HP:0003177", + "Protrusio acetabuli": "HP:0003179", + "Abnormally indented hip sockets": "HP:0003179", + "Acetabular protrusion": "HP:0003179", + "Protrusio acetabulae": "HP:0003179", + "Flat acetabular roof": "HP:0003180", + "Acetabular angle flat": "HP:0003180", + "Flat acetabular roofs": "HP:0003180", + "Flattened acetabular roof": "HP:0003180", + "Horizontal acetabulae": "HP:0003180", + "Horizontal acetabular roof": "HP:0003180", + "Horizontal acetabular roofs": "HP:0003180", + "Shallow acetabular fossae": "HP:0003182", + "Shallow acetabula": "HP:0003182", + "Shallow acetabulae": "HP:0003182", + "Shallow acetabular fossa": "HP:0003182", + "Shallow acetabulum": "HP:0003182", + "Wide pubic symphysis": "HP:0003183", + "Wide symphysis of pubis": "HP:0003183", + "Decreased hip abduction": "HP:0003184", + "Limited hip abduction": "HP:0003184", + "Short greater sciatic notch": "HP:0003185", + "Short sacroiliac notch": "HP:0003185", + "Shortened sacroiliac notches": "HP:0003185", + "Small sacroiliac notch": "HP:0003185", + "Inverted nipples": "HP:0003186", + "Invaginated nipples": "HP:0003186", + "Breast hypoplasia": "HP:0003187", + "Underdeveloped breasts": "HP:0003187", + "Long nose": "HP:0003189", + "Elongated nose": "HP:0003189", + "Increased height of nose": "HP:0003189", + "Increased length of nose": "HP:0003189", + "Increased nasal height": "HP:0003189", + "Increased nasal length": "HP:0003189", + "Nasal elongation": "HP:0003189", + "Cleft ala nasi": "HP:0003191", + "Ala nasi, cleft": "HP:0003191", + "Alar clefts": "HP:0003191", + "Cleft nasal alae": "HP:0003191", + "Cleft nostril": "HP:0003191", + "Notched nasal alae": "HP:0003191", + "Nostril coloboma": "HP:0003191", + "Allergic rhinitis": "HP:0003193", + "Hay fever": "HP:0003193", + "Hayfever": "HP:0003193", + "Nasal allergies": "HP:0003193", + "Short nasal bridge": "HP:0003194", + "Decreased length of bridge of nose": "HP:0003194", + "Decreased length of nasal bridge": "HP:0003194", + "Short bridge of nose": "HP:0003194", + "Short nose": "HP:0003196", + "Decreased length of nose": "HP:0003196", + "Hypoplastic nose": "HP:0003196", + "Nasal hypoplasia": "HP:0003196", + "Shortened nose": "HP:0003196", + "Small nose": "HP:0003196", + "Myopathy": "HP:0003198", + "Muscle tissue disease": "HP:0003198", + "Myopathic changes": "HP:0003198", + "Decreased muscle mass": "HP:0003199", + "Ragged-red muscle fibers": "HP:0003200", + "Mitochondrial proliferation in muscle tissue": "HP:0003200", + "Ragged red muscle fibers": "HP:0003200", + "Ragged red muscle fibres": "HP:0003200", + "Ragged-red fibers": "HP:0003200", + "Ragged-red fibres": "HP:0003200", + "Ragged-red muscle fibres": "HP:0003200", + "Rhabdomyolysis": "HP:0003201", + "Breakdown of skeletal muscle": "HP:0003201", + "Skeletal muscle atrophy": "HP:0003202", + "Amyotrophy": "HP:0003202", + "Amyotrophy involving the extremities": "HP:0003202", + "Muscle atrophy": "HP:0003202", + "Muscle atrophy, neurogenic": "HP:0003202", + "Muscle degeneration": "HP:0003202", + "Muscle hypotrophy": "HP:0003202", + "Muscle wasting": "HP:0003202", + "Muscular atrophy": "HP:0003202", + "Neurogenic muscle atrophy": "HP:0003202", + "Neurogenic muscle atrophy, especially in the lower limbs": "HP:0003202", + "Neurogenic muscular atrophy": "HP:0003202", + "Impaired oxidative burst": "HP:0003203", + "Negative NBT reduction test": "HP:0003203", + "Negative nitroblue tetrazolium reduction test": "HP:0003203", + "Intracellular accumulation of autofluorescent lipopigment storage material": "HP:0003204", + "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material": "HP:0003205", + "Curvilinear profiles ultrastructurally": "HP:0003205", + "Curvilinear profiles ultrastructurally in cells": "HP:0003205", + "Intracellular curvilinear profiles on ultrastructural analysis": "HP:0003205", + "Decreased activity of NADPH oxidase": "HP:0003206", + "Arterial calcification": "HP:0003207", + "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material": "HP:0003208", + "Fingerprint profiles ultrastructurally": "HP:0003208", + "Fingerprint profiles ultrastructurally in cells": "HP:0003208", + "Decreased pyruvate carboxylase activity": "HP:0003209", + "Decreased methylmalonyl-CoA mutase activity": "HP:0003210", + "Decreased methylmalonyl CoA mutase activity": "HP:0003210", + "Increased circulating IgE concentration": "HP:0003212", + "Elevated immunoglobulin E": "HP:0003212", + "Elevated serum IgE": "HP:0003212", + "High immunoglobulin E": "HP:0003212", + "Increased circulating IgE level": "HP:0003212", + "Deficient excision of UV-induced pyrimidine dimers in DNA": "HP:0003213", + "Prolonged G2 phase of cell cycle": "HP:0003214", + "Dicarboxylic aciduria": "HP:0003215", + "Elevated urinary dicarboxylic acid level": "HP:0003215", + "Generalized amyloid deposition": "HP:0003216", + "Generalised amyloid deposition": "HP:0003216", + "Hyperglutaminemia": "HP:0003217", + "High plasma glutamine": "HP:0003217", + "Oroticaciduria": "HP:0003218", + "High urine orotic acid levels": "HP:0003218", + "Increased urinary orotic acid concentration": "HP:0003218", + "Orotic aciduria": "HP:0003218", + "Ethylmalonic aciduria": "HP:0003219", + "Abnormality of chromosome stability": "HP:0003220", + "Chromosomal breakage induced by crosslinking agents": "HP:0003221", + "Chromosomal breakage induced by diepoxybutane": "HP:0003221", + "Chromosomal breakage induced by mitomycin C": "HP:0003221", + "Decreased circulating methylcobalamin concentration": "HP:0003223", + "Decreased methylcobalamin": "HP:0003223", + "Methylcobalamin deficiency": "HP:0003223", + "Increased cellular sensitivity to UV light": "HP:0003224", + "Reduced coagulation factor V activity": "HP:0003225", + "Reduced factor V activity": "HP:0003225", + "Factor V deficiency": "HP:0003225", + "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material": "HP:0003226", + "Rectilinear profiles ultrastructurally": "HP:0003226", + "Hypernatremia": "HP:0003228", + "High blood sodium levels": "HP:0003228", + "Hypertyrosinemia": "HP:0003231", + "Increased tyrosine in blood": "HP:0003231", + "Tyrosinemia": "HP:0003231", + "Mitochondrial malic enzyme reduced": "HP:0003232", + "Decreased mitochondrial malic enzyme": "HP:0003232", + "Decreased HDL cholesterol concentration": "HP:0003233", + "Decreased HDL cholesterol": "HP:0003233", + "Decreased circulating high-density lipoprotein cholesterol": "HP:0003233", + "Decreased circulating high-density lipoprotein levels": "HP:0003233", + "Hypoalphalipoproteinemia": "HP:0003233", + "Low HDL-cholesterol": "HP:0003233", + "Decreased circulating carnitine concentration": "HP:0003234", + "Decreased plasma carnitine": "HP:0003234", + "Carnitine deficiency": "HP:0003234", + "Hypermethioninemia": "HP:0003235", + "Increased methionine in blood": "HP:0003235", + "Methioninemia": "HP:0003235", + "Elevated circulating creatine kinase concentration": "HP:0003236", + "Elevated blood creatine phosphokinase": "HP:0003236", + "Elevated circulating creatine phosphokinase": "HP:0003236", + "Elevated creatine kinase": "HP:0003236", + "Elevated serum CPK": "HP:0003236", + "Elevated serum creatine kinase": "HP:0003236", + "Elevated serum creatine phosphokinase": "HP:0003236", + "High serum creatine kinase": "HP:0003236", + "Increased CPK": "HP:0003236", + "Increased creatine kinase": "HP:0003236", + "Increased creatine phosphokinase": "HP:0003236", + "Increased serum CK": "HP:0003236", + "Increased serum creatine kinase": "HP:0003236", + "Increased serum creatine phosphokinase": "HP:0003236", + "Increased circulating IgG concentration": "HP:0003237", + "Increased IgG level": "HP:0003237", + "Increased circulating IgG level": "HP:0003237", + "Increased levels of IgG": "HP:0003237", + "Increased total IgG in blood": "HP:0003237", + "Hyperpepsinogenemia I": "HP:0003238", + "Phosphoethanolaminuria": "HP:0003239", + "High urine phosphoethanolamine levels": "HP:0003239", + "Increased level of O-phosphoethanolamine in urine": "HP:0410158", + "Increased urine O-phosphoethanolamine level": "HP:0003239", + "Increased phosphoribosylpyrophosphate synthetase level": "HP:0003240", + "Increased PRPS1 activity": "HP:0003240", + "Increased phosphoribosyl pyrophosphate synthetase activity": "HP:0003240", + "External genital hypoplasia": "HP:0003241", + "Hypogenitalism": "HP:0003241", + "Small genitalia": "HP:0003241", + "Underdevelopment of external reproductive organs": "HP:0003241", + "Penile hypospadias": "HP:0003244", + "Prominent scrotal raphe": "HP:0003246", + "Prominent perineal raphe": "HP:0003246", + "Overgrowth of external genitalia": "HP:0003247", + "Gonadal tissue inappropriate for external genitalia or chromosomal sex": "HP:0003248", + "Genital ulcers": "HP:0003249", + "Aplasia of the vagina": "HP:0003250", + "Absent vagina": "HP:0003250", + "Congenital absence of the vagina": "HP:0003250", + "Male infertility": "HP:0003251", + "Anteriorly displaced genitalia": "HP:0003252", + "Abnormality of DNA repair": "HP:0003254", + "Abnormality of the coagulation cascade": "HP:0003256", + "Coagulopathy": "HP:0003256", + "Glyoxalase deficiency": "HP:0003258", + "Elevated circulating creatinine concentration": "HP:0003259", + "Elevated creatinine": "HP:0003259", + "Elevated serum creatinine": "HP:0003259", + "High blood creatinine level": "HP:0003259", + "Increased creatinine": "HP:0003259", + "Increased serum creatinine": "HP:0003259", + "Hydroxyprolinemia": "HP:0003260", + "High blood hydroxyproline levels": "HP:0003260", + "Increased circulating IgA concentration": "HP:0003261", + "Elevated IgA": "HP:0003261", + "Elevated serum IgA": "HP:0003261", + "IgA hypergammaglobulinemia": "HP:0003261", + "Increased circulating IgA level": "HP:0003261", + "Increased levels of IgA": "HP:0003261", + "Increased serum IgA": "HP:0003261", + "Anti-smooth muscle antibody positivity": "HP:0003262", + "Smooth muscle antibody positive": "HP:0003262", + "Smooth muscle antibody positivity": "HP:0003262", + "Deficiency of N-acetylglucosamine-1-phosphotransferase": "HP:0003264", + "Neonatal hyperbilirubinemia": "HP:0003265", + "High blood bilirubin levels in neonate": "HP:0003265", + "Hyperbilirubinemia, neonatal": "HP:0003265", + "Reduced orotidine 5-prime phosphate decarboxylase level": "HP:0003267", + "Orotidine-5-prime-phosphate decarboxylase defect": "HP:0003267", + "Argininuria": "HP:0003268", + "High urine arginine levels": "HP:0003268", + "Sudanophilic leukodystrophy": "HP:0003269", + "Abdominal distention": "HP:0003270", + "Abdominal bloating": "HP:0003270", + "Abdominal distension": "HP:0003270", + "Abdominal swelling": "HP:0003270", + "Belly bloating": "HP:0003270", + "Bloating": "HP:0003270", + "Distended abdomen": "HP:0003270", + "Visceromegaly": "HP:0003271", + "Abnormal hip bone morphology": "HP:0003272", + "Abnormality of the hip bone": "HP:0003272", + "Abnormality of the hips": "HP:0003272", + "Hip contracture": "HP:0003273", + "Flexion contracture of hips": "HP:0003273", + "Flexion contractures of hips": "HP:0003273", + "Hip contractures": "HP:0003273", + "Hip flexion contractures": "HP:0003273", + "Hypoplastic acetabulae": "HP:0003274", + "Acetabular hypoplasia": "HP:0003274", + "Hypoplastic acetabula": "HP:0003274", + "Narrow pelvis bone": "HP:0003275", + "Narrow pelvis": "HP:0003275", + "Pelvic bone exostoses": "HP:0003276", + "Pelvic exostoses": "HP:0003276", + "Constricted iliac wing": "HP:0003277", + "Constricted iliac wings": "HP:0003277", + "Square pelvis bone": "HP:0003278", + "Square pelvis": "HP:0003278", + "Squared off pelvis": "HP:0003278", + "Coxa magna": "HP:0003279", + "Increased circulating ferritin concentration": "HP:0003281", + "Elevated serum ferritin": "HP:0003281", + "High ferritin level": "HP:0003281", + "Hyperferritinaemia": "HP:0003281", + "Hyperferritinemia": "HP:0003281", + "Increased ferritin": "HP:0003281", + "Increased plasma ferritin": "HP:0003281", + "Increased serum ferritin level": "HP:0003281", + "Decreased circulating alkaline phosphatase activity": "HP:0003282", + "Decreased serum alkaline phosphatase": "HP:0003282", + "Low ALP": "HP:0003282", + "Low alkaline phosphatase": "HP:0003282", + "Cystathioninemia": "HP:0003286", + "High blood cystathionine levels": "HP:0003286", + "Abnormality of mitochondrial metabolism": "HP:0003287", + "Mitochondrial dysfunction": "HP:0003287", + "Mitochondrial propionyl-CoA carboxylase defect": "HP:0003288", + "Mitochondrial PCC defect": "HP:0003288", + "Decreased serum leptin": "HP:0003292", + "Reduced circulating leptin level": "HP:0003292", + "obsolete Impaired FSH and LH secretion": "HP:0003295", + "Hyperthreoninuria": "HP:0003296", + "High urine threonine levels": "HP:0003296", + "Hyperlysinuria": "HP:0003297", + "High urine lysine levels": "HP:0003297", + "Lysinuria": "HP:0003297", + "Spina bifida occulta": "HP:0003298", + "Hidden spina bifida": "HP:0003298", + "Ovoid vertebral bodies": "HP:0003300", + "Oval vertebral bodies": "HP:0003300", + "Ovoid vertebrae": "HP:0003300", + "Ovoid-shaped vertebral bodies": "HP:0003300", + "Bullet vertebral body": "HP:0003300", + "Irregular vertebral endplates": "HP:0003301", + "Irregular end plates": "HP:0003301", + "Irregular endplates": "HP:0003301", + "end-plate irregularities": "HP:0003301", + "endplate irregularities": "HP:0003301", + "endplate irregularity": "HP:0003301", + "irregular vertebral plates": "HP:0003301", + "vertebral endplate irregularity": "HP:0003301", + "Spondylolisthesis": "HP:0003302", + "Displacement of one backbone compared to another": "HP:0003302", + "Slipped backbone": "HP:0003302", + "Spondylolithesis": "HP:0003302", + "Spondylolysis": "HP:0003304", + "Block vertebrae": "HP:0003305", + "Spinal rigidity": "HP:0003306", + "Reduced spine movement": "HP:0003306", + "Rigid spine": "HP:0003306", + "Hyperlordosis": "HP:0003307", + "Lordosis": "HP:0003307", + "Prominent swayback": "HP:0003307", + "Cervical subluxation": "HP:0003308", + "Ovoid thoracolumbar vertebrae": "HP:0003309", + "Ovoid thoracic and lumbar vertebrae": "HP:0003309", + "Abnormal odontoid process morphology": "HP:0003310", + "Abnormal odontoid peg": "HP:0003310", + "Abnormal odontoid process": "HP:0003310", + "Abnormality of the odontoid process": "HP:0003310", + "Hypoplasia of the odontoid process": "HP:0003311", + "Hypoplastic odontoid process": "HP:0003311", + "Odontoid hypoplasia": "HP:0003311", + "Small odontoid peg": "HP:0003311", + "Small odontoid process": "HP:0003311", + "Abnormal form of the vertebral bodies": "HP:0003312", + "Abnormal vertebral bodies": "HP:0003312", + "Abnormally shaped vertebrae": "HP:0003312", + "Butterfly vertebrae": "HP:0003316", + "Anterior rachischisis": "HP:0003316", + "Sagittal clefting of vertebrae": "HP:0003316", + "Cervical spine hypermobility": "HP:0003318", + "Cervical spine joint hypermobility": "HP:0003318", + "Abnormality of the cervical spine": "HP:0003319", + "Abnormal cervical spine": "HP:0003319", + "Abnormality of cervical vertebra": "HP:0003319", + "Abnormality of the cervical vertebrae": "HP:0003319", + "Cervical spine abnormalities": "HP:0003319", + "Cervical vertebral abnormalities": "HP:0003319", + "Disorder of cervical vertebra": "HP:0003319", + "Cervical vertebral anomalies": "HP:0003319", + "C1-C2 subluxation": "HP:0003320", + "Biconcave flattened vertebrae": "HP:0003321", + "Progressive muscle weakness": "HP:0003323", + "Muscle weakness, progressive": "HP:0003323", + "Progressive muscular weakness": "HP:0003323", + "Generalized muscle weakness": "HP:0003324", + "Generalised muscle weakness": "HP:0003324", + "Generalised weakness": "HP:0003324", + "Generalized weakness": "HP:0003324", + "Muscle weakness, diffuse": "HP:0003324", + "Muscle weakness, generalised": "HP:0003324", + "Muscle weakness, generalized": "HP:0003324", + "Limb-girdle muscle weakness": "HP:0003325", + "Limb girdle weakness": "HP:0003325", + "Muscle weakness, limb-girdle": "HP:0003325", + "Muscular weakness, limb-girdle": "HP:0003325", + "Myalgia": "HP:0003326", + "Muscle ache": "HP:0003326", + "Muscle pain": "HP:0003326", + "Myalgias": "HP:0003326", + "Axial muscle weakness": "HP:0003327", + "Abnormal hairshaft morphology": "HP:0003328", + "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes": "HP:0003329", + "Abnormal bone structure": "HP:0003330", + "Absent primary metaphyseal spongiosa": "HP:0003332", + "Increased serum beta-hexosaminidase": "HP:0003333", + "Elevated circulating catecholamine level": "HP:0003334", + "obsolete Low gonadotropins (secondary hypogonadism)": "HP:0003335", + "Abnormal enchondral ossification": "HP:0003336", + "Reduced prothrombin consumption": "HP:0003337", + "Poor prothrombin consumption": "HP:0003337", + "Focal necrosis of right ventricular muscle cells": "HP:0003338", + "Pyrimidine-responsive megaloblastic anemia": "HP:0003339", + "Anaemia corrected by uridylic acid and cytidylic acid": "HP:0003339", + "Anemia corrected by uridylic acid and cytidylic acid": "HP:0003339", + "Pyrimidine-responsive megaloblastic anaemia": "HP:0003339", + "obsolete Abnormal dermatological laboratory findings": "HP:0003340", + "Lamina lucida cleavage": "HP:0003341", + "Blistering with junctional split": "HP:0003341", + "Junctional split": "HP:0003341", + "Subepidermal blistering with cleavage in the lamina lucida": "HP:0003341", + "Reduced glutathione synthetase level": "HP:0003343", + "Glutathione synthetase deficiency": "HP:0003343", + "3-Methylglutaric aciduria": "HP:0003344", + "3-methylglutaricaciduria": "HP:0003344", + "Elevated urinary norepinephrine level": "HP:0003345", + "Impaired lymphocyte transformation with phytohemagglutinin": "HP:0003347", + "Hyperalaninemia": "HP:0003348", + "Increased blood alanine": "HP:0003348", + "Increased serum alanine": "HP:0003348", + "Low cholesterol esterification rate": "HP:0003349", + "Decreased circulating renin concentration": "HP:0003351", + "Decreased circulating renin level": "HP:0003351", + "Decreased plasma renin activity": "HP:0003351", + "Low plasma renin activity": "HP:0003351", + "Suppressed plasma renin activity": "HP:0003351", + "Endopolyploidy on chromosome studies of bone marrow": "HP:0003352", + "Propionyl-CoA carboxylase deficiency": "HP:0003353", + "Hyperthreoninemia": "HP:0003354", + "Elevated circulating threonine": "HP:0003354", + "High blood threonine levels": "HP:0003354", + "Aminoaciduria": "HP:0003355", + "High urine amino acid levels": "HP:0003355", + "Hyperaminoaciduria": "HP:0003355", + "Increased levels of animo acids in urine": "HP:0003355", + "Abnormal urinary amino-acid findings": "HP:0003355", + "Thymic hormone decreased": "HP:0003357", + "Decreased thymic hormone": "HP:0003357", + "Elevated intracellular cystine": "HP:0003358", + "Decreased urinary sulfate": "HP:0003359", + "Decreased urinary sulphate": "HP:0003359", + "Tryptophanuria": "HP:0003361", + "High urine tryptophan levels": "HP:0003361", + "Increased VLDL cholesterol concentration": "HP:0003362", + "Increased circulating very-low-density lipoprotein cholesterol": "HP:0003362", + "Increased circulating very-low-density lipoprotein levels": "HP:0003362", + "Increased plasma VLDL cholesterol": "HP:0003362", + "Abdominal situs inversus": "HP:0003363", + "Situs inversus visceralis": "HP:0003363", + "Situs inversus viscerum": "HP:0003363", + "Arthralgia of the hip": "HP:0003365", + "Coxalgia": "HP:0003365", + "Hip arthralgia": "HP:0003365", + "Hip joint pain": "HP:0003365", + "Abnormal femoral neck/head morphology": "HP:0003366", + "Abnormal neck or head of thigh bone": "HP:0003366", + "Abnormality of the femoral neck or head region": "HP:0003366", + "Abnormal femoral neck morphology": "HP:0003367", + "Abnormal neck of thigh bone": "HP:0003367", + "Abnormality of the femoral neck": "HP:0003367", + "Abnormal femoral head morphology": "HP:0003368", + "Abnormal head of thigh bone": "HP:0003368", + "Abnormality of the femoral head": "HP:0003368", + "Flat capital femoral epiphysis": "HP:0003370", + "Flat capital femoral epiphyses": "HP:0003370", + "Flat end part of innermost thighbone": "HP:0003370", + "Flat femoral capital epiphyses": "HP:0003370", + "Flat proximal femoral epiphyses": "HP:0003370", + "Flattened proximal femoral epiphyses": "HP:0003370", + "Enlargement of the proximal femoral epiphysis": "HP:0003371", + "Enlarged capital femoral epiphyses": "HP:0003371", + "Enlarged end part of innermost thighbone": "HP:0003371", + "Narrow greater sciatic notch": "HP:0003375", + "Narrow greater sacrosciatic notches": "HP:0003375", + "Narrow sacroiliac notch": "HP:0003375", + "Narrow sacrosciatic notch": "HP:0003375", + "Narrow sciatic notches": "HP:0003375", + "Narrowed greater sciatic notch": "HP:0003375", + "Narrowed sacrosciatic notch": "HP:0003375", + "Small sacrosciatic notch": "HP:0003375", + "Small sacrosciatic notches": "HP:0003375", + "Steppage gait": "HP:0003376", + "High stepping": "HP:0003376", + "Axonal degeneration/regeneration": "HP:0003378", + "Axon degeneration and regeneration": "HP:0003378", + "Decreased number of peripheral myelinated nerve fibers": "HP:0003380", + "Decreased number of large and small myelinated fibers": "HP:0003380", + "Decreased number of large and small myelinated fibres": "HP:0003380", + "Decreased number of peripheral myelinated nerve fibres": "HP:0003380", + "Loss of myelinated fibers": "HP:0003380", + "Loss of myelinated fibres": "HP:0003380", + "Hypertrophic nerve changes": "HP:0003382", + "Onion bulb formation": "HP:0003383", + "Onion bulb formations": "HP:0003383", + "Peripheral axonal atrophy": "HP:0003384", + "Decreased number of large peripheral myelinated nerve fibers": "HP:0003387", + "Decreased number of large peripheral myelinated nerve fibres": "HP:0003387", + "Depletion of large myelinated fibers": "HP:0003387", + "Depletion of large myelinated fibres": "HP:0003387", + "Loss of large myelinated fibers": "HP:0003387", + "Loss of large myelinated fibres": "HP:0003387", + "Loss of larger myelinated nerve fibers": "HP:0003387", + "Loss of larger myelinated nerve fibres": "HP:0003387", + "Easy fatigability": "HP:0003388", + "Tired easily": "HP:0003388", + "Sensory axonal neuropathy": "HP:0003390", + "Axonal sensory neuropathy": "HP:0003390", + "Peripheral sensory axonal neuropathy": "HP:0003390", + "Gowers sign": "HP:0003391", + "Gower sign": "HP:0003391", + "Positive Gower sign": "HP:0003391", + "Positive Gowers sign": "HP:0003391", + "First dorsal interossei muscle weakness": "HP:0003392", + "Thenar muscle atrophy": "HP:0003393", + "Thenar atrophy": "HP:0003393", + "Muscle spasm": "HP:0003394", + "Muscle cramps": "HP:0003394", + "Muscle spasms": "HP:0003394", + "Syringomyelia": "HP:0003396", + "Fluid-filled cyst in spinal cord": "HP:0003396", + "Syrinx": "HP:0003396", + "Generalized hypotonia due to defect at the neuromuscular junction": "HP:0003397", + "Generalised hypotonia due to defect at the neuromuscular junction": "HP:0003397", + "Abnormal synaptic transmission at the neuromuscular junction": "HP:0003398", + "Abnormality of neuromuscular transmission": "HP:0003398", + "Basal lamina onion bulb formation": "HP:0003400", + "Basal lamina 'onion bulb' formations on nerve biopsy": "HP:0003400", + "Paresthesia": "HP:0003401", + "Paresthesias": "HP:0003401", + "Pins and needles feeling": "HP:0003401", + "Tingling": "HP:0003401", + "Decreased miniature endplate potentials": "HP:0003402", + "Decreased MEPP": "HP:0003402", + "Small miniature endplate currents": "HP:0003402", + "Small miniature endplate potentials": "HP:0003402", + "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation": "HP:0003403", + "EMG: decremental response of CMAP to repetitive nerve stimulation": "HP:0003403", + "EMG: decrement at repetitive stimulation": "HP:0003403", + "Diffuse axonal swelling": "HP:0003405", + "Peripheral nerve compression": "HP:0003406", + "Distal sensory impairment of all modalities": "HP:0003409", + "Distal sensory loss to all modalities": "HP:0003409", + "Proximal femoral metaphyseal irregularity": "HP:0003411", + "Irregular proximal femoral metaphyses": "HP:0003411", + "Atlantoaxial abnormality": "HP:0003413", + "Atlantoaxial dislocation": "HP:0003414", + "Atlanto-axial subluxation": "HP:0003414", + "Atlantoaxial subluxation": "HP:0003414", + "Spinal canal stenosis": "HP:0003416", + "Narrow spinal canal": "HP:0003416", + "Spinal stenosis": "HP:0003416", + "Coronal cleft vertebrae": "HP:0003417", + "Coronal clefts": "HP:0003417", + "Coronal vertebral clefts": "HP:0003417", + "Vertebral coronal clefts": "HP:0003417", + "coronal cleft of vertebrae": "HP:0003417", + "Back pain": "HP:0003418", + "Low back pain": "HP:0003419", + "Lower back pain": "HP:0003419", + "Lumbago": "HP:0003419", + "obsolete Platyspondyly (childhood)": "HP:0003421", + "Vertebral segmentation defect": "HP:0003422", + "Abnormal spinal segmentation": "HP:0003422", + "Thoracolumbar kyphoscoliosis": "HP:0003423", + "Dorsolumbar kyphosis": "HP:0003423", + "First dorsal interossei muscle atrophy": "HP:0003426", + "Thenar muscle weakness": "HP:0003427", + "CNS hypomyelination": "HP:0003429", + "Decreased motor nerve conduction velocity": "HP:0003431", + "Decreased motor NCV": "HP:0003431", + "Decreased motor nerve conduction velocities": "HP:0003431", + "Reduced motor nerve conduction velocity": "HP:0003431", + "Sensory ataxic neuropathy": "HP:0003434", + "Cold-induced hand cramps": "HP:0003435", + "Prolonged miniature endplate currents": "HP:0003436", + "Prolonged MEPC": "HP:0003436", + "Prolonged MEPP": "HP:0003436", + "Prolonged miniature endplate potentials": "HP:0003436", + "Absent Achilles reflex": "HP:0003438", + "Absent ankle reflexes": "HP:0003438", + "Horizontal sacrum": "HP:0003440", + "Decreased size of nerve terminals": "HP:0003443", + "EMG: chronic denervation signs": "HP:0003444", + "EMG: neuropathic changes": "HP:0003445", + "EMG: neurogenic abnormalities": "HP:0003445", + "EMG: neurogenic changes": "HP:0003445", + "EMG: neurogenic findings": "HP:0003445", + "Axonal loss": "HP:0003447", + "Decreased sensory nerve conduction velocity": "HP:0003448", + "Decreased sensory NCV": "HP:0003448", + "Decreased sensory nerve conduction velocities": "HP:0003448", + "Cold-induced muscle cramps": "HP:0003449", + "Axonal regeneration": "HP:0003450", + "Regenerative activity on nerve biopsy": "HP:0003450", + "Increased rate of premature chromosome condensation": "HP:0003451", + "Increased circulating iron concentration": "HP:0003452", + "Increased serum iron": "HP:0003452", + "Antineutrophil antibody positivity": "HP:0003453", + "Antineutrophil antibodies": "HP:0003453", + "Neutrophil antibody positive": "HP:0003453", + "Platelet antibody positive": "HP:0003454", + "Platelet antibody": "HP:0003454", + "Elevated circulating long chain fatty acid concentration": "HP:0003455", + "Elevated long chain fatty acids": "HP:0003455", + "Elevated serum long-chain fatty acids": "HP:0003455", + "Increased serum long-chain fatty acids": "HP:0045016", + "Low urinary cyclic AMP response to PTH administration": "HP:0003456", + "EMG abnormality": "HP:0003457", + "Abnormal EMG": "HP:0003457", + "Abnormal electromyography finding": "HP:0003457", + "EMG abnormalities": "HP:0003457", + "Electromyogram abnormal": "HP:0003457", + "EMG: myopathic abnormalities": "HP:0003458", + "EMG: myopathic changes": "HP:0003458", + "EMG: myopathy": "HP:0003458", + "Myopathic electromyogram": "HP:0003458", + "Polyclonal elevation of IgM": "HP:0003459", + "Decreased circulating total IgA": "HP:0003460", + "Decreased total IgA in blood": "HP:0003460", + "Total immunoglobulin A deficiency": "HP:0003460", + "Increased urinary O-linked sialopeptides": "HP:0003461", + "Elevated 8-dehydrocholesterol": "HP:0003462", + "Increased extraneuronal autofluorescent lipopigment": "HP:0003463", + "Lipopigment in extraneuronal cells": "HP:0003463", + "obsolete Abnormal cholesterol homeostasis": "HP:0003464", + "Elevated 8(9)-cholestenol": "HP:0003465", + "Paradoxical increased cortisol secretion on dexamethasone suppression test": "HP:0003466", + "Atlantoaxial instability": "HP:0003467", + "Abnormal vertebral morphology": "HP:0003468", + "Abnormal vertebrae": "HP:0003468", + "Abnormality of the vertebrae": "HP:0003468", + "Vertebral anomalies": "HP:0003468", + "Multiple vertebral anomalies": "HP:0003468", + "Peripheral dysmyelination": "HP:0003469", + "Paralysis": "HP:0003470", + "Inability to move": "HP:0003470", + "Hypocalcemic tetany": "HP:0003472", + "Fatigable weakness": "HP:0003473", + "Fatigable weakness of limb muscles": "HP:0003473", + "Generalised muscle weakness due to defect at the neuromuscular junction": "HP:0003473", + "Generalized muscle weakness due to defect at the neuromuscular junction": "HP:0003473", + "Myasthenia": "HP:0003473", + "Myasthenic weakness": "HP:0003473", + "Proximal muscle weakness due to defect at the neuromuscular junction": "HP:0003473", + "Somatic sensory dysfunction": "HP:0003474", + "Sensory impairment": "HP:0003474", + "Peripheral axonal neuropathy": "HP:0003477", + "Axonal neuropathy": "HP:0003477", + "Axonal peripheral neuropathy": "HP:0003477", + "Segmental peripheral demyelination/remyelination": "HP:0003481", + "Segmental demyelination/remyelination": "HP:0003481", + "EMG: axonal abnormality": "HP:0003482", + "Upper limb muscle weakness": "HP:0003484", + "Decreased arm strength": "HP:0003484", + "Weak arm": "HP:0003484", + "Babinski sign": "HP:0003487", + "Extensor plantar reflexes": "HP:0003487", + "Extensor plantar response": "HP:0003487", + "Extensor plantar responses": "HP:0003487", + "Positive Babinski sign": "HP:0003487", + "Acute episodes of neuropathic symptoms": "HP:0003489", + "obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA": "HP:0003490", + "Elevated urine pyrophosphate": "HP:0003491", + "High urinary gonadotropin level": "HP:0003492", + "Antinuclear antibody positivity": "HP:0003493", + "Antinuclear antibodies": "HP:0003493", + "Antinuclear antibody positive": "HP:0003493", + "Elevated antinuclear antibody": "HP:0003493", + "Serum antinuclear antibody": "HP:0003493", + "obsolete Loss of heterozygosity, multiple chromosomes": "HP:0003494", + "GM2-ganglioside accumulation": "HP:0003495", + "Increased circulating IgM level": "HP:0003496", + "Increased IgM levels": "HP:0003496", + "Increased levels of IgM": "HP:0003496", + "Disproportionate short stature": "HP:0003498", + "Short stature, disproportionate": "HP:0003498", + "Short stature, severe disproportionate": "HP:0003498", + "Mild short stature": "HP:0003502", + "short stature, mild": "HP:0003502", + "Relative short stature": "HP:0003502", + "Proportionate short stature": "HP:0003508", + "Proportionate small stature": "HP:0003508", + "Short stature, proportionate": "HP:0003508", + "Severe short stature": "HP:0003510", + "Dwarfism": "HP:0003510", + "Proportionate dwarfism": "HP:0003510", + "Short stature, extreme": "HP:0003510", + "Short stature, severe": "HP:0003510", + "Reduced ratio of renal calcium clearance to creatinine clearance": "HP:0003513", + "Reduced ration of kidney calcium clearance to creatinine clearance": "HP:0003513", + "Reduced ration of renal Ca clearance to creatinine clearance": "HP:0003513", + "Reduced ration of renal Ca2+ to creatinine clearance": "HP:0003513", + "Deficiency or absence of cytochrome b(-245)": "HP:0003514", + "Deficiency or absence of cytochrome b": "HP:0003514", + "Birth length greater than 97th percentile": "HP:0003517", + "Fetal overgrowth": "HP:0003517", + "Foetal overgrowth": "HP:0003517", + "Disproportionate short-trunk short stature": "HP:0003521", + "Disproportionate short-trunked dwarfism": "HP:0003521", + "Disproportionate short-trunked short stature": "HP:0003521", + "Short-trunked dwarfism": "HP:0003521", + "Decreased methionine synthase activity": "HP:0003524", + "Decreased activity of methionine synthase": "HP:0003524", + "Methionine synthase activity decreased": "HP:0003524", + "Methionine synthase deficiency": "HP:0003524", + "Reduced methionine synthase activity": "HP:0003524", + "Orotic acid crystalluria": "HP:0003526", + "Hyperprostaglandinuria": "HP:0003527", + "High urine prostaglandin levels": "HP:0003527", + "Elevated circulating calcitonin concentration": "HP:0003528", + "Elevated calcitonin": "HP:0003528", + "Parathormone-independent increased renal tubular calcium reabsorption": "HP:0003529", + "Parathormone-independent increased renal tubular Ca reabsorption": "HP:0003529", + "Parathormone-independent increased renal tubular Ca2+ reabsorption": "HP:0003529", + "Elevated circulating glutaric acid concentration": "HP:0003530", + "Glutarate acidemia": "HP:0003530", + "Glutaric acidemia": "HP:0003530", + "Ornithinuria": "HP:0003532", + "Ornithine high in urine": "HP:0003532", + "Reduced acetaldehyde dehydrogenase level": "HP:0003533", + "Delayed oxidation of acetaldehyde": "HP:0003533", + "Reduced xanthine dehydrogenase level": "HP:0003534", + "Xanthine dehydrogenase deficiency": "HP:0003534", + "3-Methylglutaconic aciduria": "HP:0003535", + "3-Methylglutaconicaciduria": "HP:0003535", + "Decreased fumarate hydratase activity": "HP:0003536", + "Hypouricemia": "HP:0003537", + "Low blood uric acid levels": "HP:0003537", + "Increased iduronate sulfatase level": "HP:0003538", + "Increased serum iduronate sulfatase level": "HP:0003538", + "Increased serum iduronate sulfatase": "HP:0003538", + "Impaired platelet aggregation": "HP:0003540", + "Defective platelet aggregation": "HP:0003540", + "Deficient platelet aggregation": "HP:0003540", + "Platelet aggregation defect": "HP:0003540", + "Urinary glycosaminoglycan excretion": "HP:0003541", + "Increased circulating pyruvate concentration": "HP:0003542", + "Increased serum pyruvate": "HP:0003542", + "Increased serum pyruvic acid": "HP:0003542", + "Exercise intolerance": "HP:0003546", + "Decreased ability to exercise": "HP:0003546", + "Inability to exercise": "HP:0003546", + "Low exercise endurance": "HP:0003546", + "Poor exercise tolerance": "HP:0003546", + "Shoulder girdle muscle weakness": "HP:0003547", + "Muscle weakness, shoulder-girdle": "HP:0003547", + "Shoulder girdle weakness": "HP:0003547", + "Shoulder weakness": "HP:0003547", + "Weak shoulder muscles": "HP:0003547", + "Subsarcolemmal accumulations of abnormally shaped mitochondria": "HP:0003548", + "Abnormality of connective tissue": "HP:0003549", + "Predominantly lower limb lymphedema": "HP:0003550", + "Difficulty climbing stairs": "HP:0003551", + "Difficulty walking up stairs": "HP:0003551", + "Muscle stiffness": "HP:0003552", + "obsolete Cellulitis due to immunodeficiency": "HP:0003553", + "Type 2 muscle fiber atrophy": "HP:0003554", + "Type 2 fiber atrophy": "HP:0003554", + "Type 2 fibre atrophy": "HP:0003554", + "Type 2 muscle fibre atrophy": "HP:0003554", + "Muscle fiber splitting": "HP:0003555", + "Fiber splitting": "HP:0003555", + "Fibre splitting": "HP:0003555", + "Increased variability in muscle fiber diameter": "HP:0003557", + "Increased fiber size variation": "HP:0003557", + "Increased fibre size variation": "HP:0003557", + "Increased variability in muscle fiber size": "HP:0003557", + "Increased variability in muscle fibre diameter": "HP:0003557", + "Increased variability in muscle fibre size": "HP:0003557", + "Increased variation in fiber size": "HP:0003557", + "Increased variation in fibre size": "HP:0003557", + "Increased variation in muscle fiber size": "HP:0003557", + "Increased variation in muscle fibre size": "HP:0003557", + "Variation in muscle fiber size": "HP:0003557", + "Variation in muscle fibre size": "HP:0003557", + "Viral infection-induced rhabdomyolysis": "HP:0003558", + "Muscle hyperirritability": "HP:0003559", + "Muscular dystrophy": "HP:0003560", + "Congenital muscular dystrophy": "HP:0003560", + "Muscle biopsy shows dystrophic changes": "HP:0003560", + "Birth length less than 3rd percentile": "HP:0003561", + "Birth length < 3rd percentile": "HP:0003561", + "Birth length <3rd percentile": "HP:0003561", + "Abnormal metaphyseal vascular invasion": "HP:0003562", + "Decreased LDL cholesterol concentration": "HP:0003563", + "Decreased LDLc concentration": "HP:0003563", + "Decreased circulating low-density lipoprotein levels": "HP:0003563", + "Hypobetalipoproteinemia": "HP:0003563", + "Decreased LDL": "HP:0003563", + "Folate-dependent fragile site at Xq28": "HP:0003564", + "Elevated erythrocyte sedimentation rate": "HP:0003565", + "Elevated ESR": "HP:0003565", + "Elevated sedimentation rate": "HP:0003565", + "High ESR": "HP:0003565", + "High erythrocyte sedimentation rate": "HP:0003565", + "Increased erythrocyte sedimentation rate": "HP:0003565", + "Raised erythrocyte sedimentation rate": "HP:0003565", + "Increased serum prostaglandin E2": "HP:0003566", + "Elevated prostaglandin E2": "HP:0003566", + "Decreased glucosephosphate isomerase level": "HP:0003568", + "Decreased glucose phosphate isomerase activity": "HP:0003568", + "Glucosephosphate isomerase deficiency": "HP:0003568", + "Phosphohexose isomerase deficiency": "HP:0003568", + "Molybdenum cofactor deficiency": "HP:0003570", + "Propionic acidemia": "HP:0003571", + "Low plasma citrulline": "HP:0003572", + "Increased total bilirubin": "HP:0003573", + "High bili total": "HP:0003573", + "Increased bilirubin": "HP:0003573", + "Positive regitine blocking test": "HP:0003574", + "Increased intracellular sodium": "HP:0003575", + "High intracellular Na": "HP:0003575", + "Increased intracellular Na+ levels": "HP:0003575", + "Congenital onset": "HP:0003577", + "Onset at birth": "HP:0003577", + "Symptoms present at birth": "HP:0003577", + "Adult onset": "HP:0003581", + "Onset in adulthood": "HP:0003581", + "Onset in early adulthood": "HP:0003581", + "Symptoms begin in adulthood": "HP:0003581", + "Late onset": "HP:0003584", + "Insidious onset": "HP:0003587", + "Gradual onset": "HP:0003587", + "Infantile onset": "HP:0003593", + "Onset in first year of life": "HP:0003593", + "Onset in infancy": "HP:0003593", + "Middle age onset": "HP:0003596", + "Absent urinary urothione": "HP:0003606", + "4-hydroxyphenylacetic aciduria": "HP:0003607", + "Elevated urine 4-hydroxyphenylacetic acid level": "HP:0003607", + "Foam cells with lamellar inclusion bodies": "HP:0003609", + "Fibroblast metachromasia": "HP:0003610", + "Positive ferric chloride test": "HP:0003612", + "Positive FeCl3 test": "HP:0003612", + "Antiphospholipid antibody positivity": "HP:0003613", + "Antiphospholipid antibodies": "HP:0003613", + "Antiphospholipid antibody": "HP:0003613", + "Phospholipid antibody positivity": "HP:0003613", + "Trimethylaminuria": "HP:0003614", + "High urine trimethylamine levels": "HP:0003614", + "Premature separation of centromeric heterochromatin": "HP:0003616", + "Juvenile onset": "HP:0003621", + "Signs and symptoms begin before 15 years of age": "HP:0003621", + "Neonatal onset": "HP:0003623", + "Onset in first weeks of life": "HP:0003623", + "Onset in neonatal period": "HP:0003623", + "Amyoplasia": "HP:0003634", + "Absent muscles since birth": "HP:0003634", + "Congenital absence of muscles": "HP:0003634", + "Loss of subcutaneous adipose tissue in limbs": "HP:0003635", + "Loss of fat tissue below the skin in limbs": "HP:0003635", + "Loss of subcutaneous adipose tissue from extremities": "HP:0003635", + "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity": "HP:0003637", + "Reduced 4-Hydroxyphenylpyruvate dioxygenase level": "HP:0003637", + "Reducted HPPD activity": "HP:0003637", + "Elevated urinary epinephrine level": "HP:0003639", + "Increased urinary epinephrine": "HP:0003639", + "CNS foam cells": "HP:0003640", + "Hemoglobinuria": "HP:0003641", + "Haemoglobin in urine": "HP:0003641", + "Hemoglobin in urine": "HP:0003641", + "Type I transferrin isoform profile": "HP:0003642", + "Abnormal isoelectric focusing of serum transferrin, type I pattern": "HP:0003642", + "Isoelectric focusing of serum transferrin consistent with CDG type I": "HP:0003642", + "Type 1 transferrin isoform profile": "HP:0003642", + "Sulfite oxidase deficiency": "HP:0003643", + "Prolonged partial thromboplastin time": "HP:0003645", + "Abnormal partial thromboplastin time": "HP:0003645", + "Delayed thromboplastin generation": "HP:0003645", + "Partial thromboplastin time prolonged": "HP:0003645", + "Prolonged PTT": "HP:0003645", + "Prolonged activated partial thromboplastin time": "HP:0003645", + "Bicarbonaturia": "HP:0003646", + "Increased urine HCO3 concentration": "HP:0003646", + "Increased urine bicarbonate concentration": "HP:0003646", + "Electron transfer flavoprotein-ubiquinone oxidoreductase defect": "HP:0003647", + "Lacticaciduria": "HP:0003648", + "High urine lactic acid levels": "HP:0003648", + "Increased urine lactate": "HP:0003648", + "Abnormal glycosidase enzyme activity": "HP:0003649", + "Abnormality of glycoside metabolism": "HP:0003649", + "Foam cells": "HP:0003651", + "Foamy histiocytes": "HP:0003651", + "Foamy macrophages": "HP:0003651", + "Lipid-laden histiocytes": "HP:0003651", + "Presence of foam cells": "HP:0003651", + "Recurrent myoglobinuria": "HP:0003652", + "Myoglobinuria, episodic": "HP:0003652", + "Myoglobinuria, recurrent": "HP:0003652", + "Cellular metachromasia": "HP:0003653", + "Reduced dihydropyrimidine dehydrogenase level": "HP:0003654", + "Dihydropyrimidine dehydrogenase deficiency": "HP:0003654", + "Reduced level of N-acetylglucosaminyltransferase II": "HP:0003655", + "Deficient N-acetylglucosaminyltransferase II": "HP:0003655", + "Decreased beta-glucocerebrosidase level": "HP:0003656", + "Decreased lysosomal acid glucosylceramidase activity": "HP:0003656", + "Vascular granular osmiophilic material deposition": "HP:0003657", + "Granular osmiophilic deposits (GROD) in cells": "HP:0003657", + "Hypomethioninemia": "HP:0003658", + "Decreased plasma methionine": "HP:0003658", + "Decreased serum methionine": "HP:0003658", + "Amyotrophy of the musculature of the pelvis": "HP:0003665", + "Onset": "HP:0003674", + "Age of onset": "HP:0003674", + "Age symptoms begin": "HP:0003674", + "Progressive": "HP:0003676", + "Worsens with time": "HP:0003676", + "Progressive disorder": "HP:0003676", + "Slowly progressive": "HP:0003677", + "Signs and symptoms worsen slowly with time": "HP:0003677", + "Slow disease progression": "HP:0003677", + "Slow progression": "HP:0003677", + "Slowly progressive disorder": "HP:0003677", + "Rapidly progressive": "HP:0003678", + "Rapid progression": "HP:0003678", + "Worsening quickly": "HP:0003678", + "Rapidly progressive disorder": "HP:0003678", + "Pace of progression": "HP:0003679", + "Nonprogressive": "HP:0003680", + "Does not worsen": "HP:0003680", + "Non-progressive": "HP:0003680", + "Nonprogressive course": "HP:0003680", + "Nonprogressive disorder": "HP:0003680", + "Stationary": "HP:0003680", + "Variable progression rate": "HP:0003682", + "obsolete Large beaked nose": "HP:0003683", + "Centrally nucleated skeletal muscle fibers": "HP:0003687", + "Central nuclei": "HP:0003687", + "Centralised nuclei": "HP:0003687", + "Centralised sarcomeric nuclei": "HP:0003687", + "Centralized nuclei": "HP:0003687", + "Centralized sarcomeric nuclei": "HP:0003687", + "Centrally nucleated skeletal muscle fibres": "HP:0003687", + "Cytochrome C oxidase-negative muscle fibers": "HP:0003688", + "Cytochrome C oxidase-negative muscle fibres": "HP:0003688", + "Cytochrome c oxidase deficiency in skeletal muscle": "HP:0003688", + "Decreased activity of cytochrome C oxidase in muscle tissue": "HP:0003688", + "Decreased skeletal muscle cytochrome c oxidase activity": "HP:0003688", + "Multiple mitochondrial DNA deletions": "HP:0003689", + "Multiple mtDNA deletions": "HP:0003689", + "Limb muscle weakness": "HP:0003690", + "Limb weakness": "HP:0003690", + "Scapular winging": "HP:0003691", + "Scapula alata": "HP:0003691", + "Winged scapulae": "HP:0003691", + "Winged scapulas": "HP:0003691", + "Winged shoulder blade": "HP:0003691", + "Scapular weakness": "HP:0003691", + "Distal amyotrophy": "HP:0003693", + "Amyotrophy of distal limb muscles": "HP:0003693", + "Distal amyotrophy, especially of the hands and feet": "HP:0003693", + "Distal limb muscle atrophy": "HP:0003693", + "Distal muscle atrophy": "HP:0003693", + "Distal muscle atrophy, upper and lower limbs": "HP:0003693", + "Distal muscle degeneration": "HP:0003693", + "Distal muscle wasting": "HP:0003693", + "Distal muscular atrophy": "HP:0003693", + "Muscle atrophy, distal": "HP:0003693", + "Late-onset proximal muscle weakness": "HP:0003694", + "Absent epiphysis of the distal phalanx of the 5th finger": "HP:0003696", + "Absent end part of the outermost bone of the little finger": "HP:0003696", + "Absent end part of the outermost bone of the pinkie finger": "HP:0003696", + "Absent end part of the outermost bone of the pinky finger": "HP:0003696", + "Scapuloperoneal amyotrophy": "HP:0003697", + "Scapuloperoneal atrophy": "HP:0003697", + "Difficulty standing": "HP:0003698", + "Difficulty in standing": "HP:0003698", + "Standing instability": "HP:0003698", + "Generalized amyotrophy": "HP:0003700", + "Diffuse amyotrophy": "HP:0003700", + "Diffuse muscle atrophy": "HP:0003700", + "Diffuse muscle wasting": "HP:0003700", + "Diffuse skeletal muscle wasting": "HP:0003700", + "Generalised amyotrophy": "HP:0003700", + "Generalised muscle atrophy": "HP:0003700", + "Generalised muscle degeneration": "HP:0003700", + "Generalized muscle atrophy": "HP:0003700", + "Generalized muscle degeneration": "HP:0003700", + "Muscle atrophy, diffuse": "HP:0003700", + "Muscle atrophy, generalised": "HP:0003700", + "Muscle atrophy, generalized": "HP:0003700", + "Muscular atrophy, generalised": "HP:0003700", + "Muscular atrophy, generalized": "HP:0003700", + "Proximal muscle weakness": "HP:0003701", + "Muscle weakness, proximal": "HP:0003701", + "Proximal limb muscle weakness": "HP:0003701", + "Proximal limb weakness": "HP:0003701", + "Weakness in muscles of upper arms and upper legs": "HP:0003701", + "Proximal neurogenic muscle weakness": "HP:0003701", + "Scapuloperoneal weakness": "HP:0003704", + "Neurogenic scapuloperoneal syndrome": "HP:0003704", + "Calf muscle pseudohypertrophy": "HP:0003707", + "Pseudohypertrophy of the calves": "HP:0003707", + "Exercise-induced muscle cramps": "HP:0003710", + "Exercise-induced muscle cramping": "HP:0003710", + "Muscle cramps following exercise": "HP:0003710", + "Muscle cramps on exercise": "HP:0003710", + "Muscle cramps on exertion": "HP:0003710", + "Muscle cramps with exertion": "HP:0003710", + "Skeletal muscle hypertrophy": "HP:0003712", + "Hypertrophic muscles": "HP:0003712", + "Increased skeletal muscle cells": "HP:0003712", + "Muscle hypertrophy": "HP:0003712", + "Muscular hypertrophy": "HP:0003712", + "Muscle fiber necrosis": "HP:0003713", + "Muscle fibre necrosis": "HP:0003713", + "Myofibrillar myopathy": "HP:0003715", + "Myofibrillar changes": "HP:0003715", + "Generalized muscular appearance from birth": "HP:0003716", + "Generalised muscular appearance from birth": "HP:0003716", + "Minimal subcutaneous fat": "HP:0003717", + "Minimal fat below the skin": "HP:0003717", + "Muscle mounding": "HP:0003719", + "Generalized muscle hypertrophy": "HP:0003720", + "Generalised increase in muscle cell size": "HP:0003720", + "Generalised muscle hypertrophy": "HP:0003720", + "Generalized increase in muscle cell size": "HP:0003720", + "Neck flexor weakness": "HP:0003722", + "Neck flexion weakness": "HP:0003722", + "Neck flexor muscle weakness": "HP:0003722", + "Shoulder girdle muscle atrophy": "HP:0003724", + "Shoulder girdle atrophy": "HP:0003724", + "Shoulder girdle muscle wasting": "HP:0003724", + "Shoulder-girdle muscle atrophy": "HP:0003724", + "Firm muscles": "HP:0003725", + "Enteroviral dermatomyositis syndrome": "HP:0003729", + "EMG: myotonic runs": "HP:0003730", + "EMG: spontaneous, repetitive electrical activity": "HP:0003730", + "Quadriceps muscle weakness": "HP:0003731", + "Quadriceps weakness": "HP:0003731", + "Thigh hypertrophy": "HP:0003733", + "Increased thigh size": "HP:0003733", + "Autophagic vacuoles": "HP:0003736", + "Mitochondrial myopathy": "HP:0003737", + "Exercise-induced myalgia": "HP:0003738", + "Exercise-induced muscle pain": "HP:0003738", + "Muscle pain on exercise": "HP:0003738", + "Muscle pain with exercise": "HP:0003738", + "Muscle pain, exercise-induced": "HP:0003738", + "Myoclonic spasms": "HP:0003739", + "Myotonia with warm-up phenomenon": "HP:0003740", + "obsolete Congenital muscular dystrophy": "HP:0003741", + "Genetic anticipation": "HP:0003743", + "Autosomal dominant with genetic anticipation": "HP:0003743", + "Genetic anticipation with paternal anticipation bias": "HP:0003744", + "Paternal anticipation bias": "HP:0003744", + "Sporadic": "HP:0003745", + "Isolated cases": "HP:0003745", + "No previous family history": "HP:0003745", + "Pelvic girdle muscle weakness": "HP:0003749", + "Hip girdle muscle weakness": "HP:0003749", + "Hip girdle weakness": "HP:0003749", + "Hip-girdle muscle weakness": "HP:0003749", + "Pelvic girdle weakness": "HP:0003749", + "Increased muscle fatiguability": "HP:0003750", + "Muscle fatigue": "HP:0003750", + "Episodic flaccid weakness": "HP:0003752", + "Type 1 fibers relatively smaller than type 2 fibers": "HP:0003755", + "Type 1 fibres relatively smaller than type 2 fibres": "HP:0003755", + "Skeletal myopathy": "HP:0003756", + "Reduced subcutaneous adipose tissue": "HP:0003758", + "Decreased subcutaneous adipose tissue": "HP:0003758", + "Decreased subcutaneous fat": "HP:0003758", + "Reduced fat tissue below the skin": "HP:0003758", + "Reduced subcutaneous fat": "HP:0003758", + "Scanty adipose tissue": "HP:0003758", + "Hypoplasia of lymphatic vessels": "HP:0003759", + "Underdeveloped lymphatic vessels": "HP:0003759", + "Percussion-induced rapid rolling muscle contractions": "HP:0003760", + "Calcinosis": "HP:0003761", + "Calcium buildup in soft tissues of body": "HP:0003761", + "Uterus didelphys": "HP:0003762", + "Didelphic uteri": "HP:0003762", + "Didelphic uterus": "HP:0003762", + "Didelphyc uterus": "HP:0003762", + "Doubling of uterus": "HP:0003762", + "Duplex uterus": "HP:0003762", + "Duplicated uterus": "HP:0003762", + "Duplication of uterus": "HP:0003762", + "Uterine didelphis": "HP:0003762", + "Uterine didelphys": "HP:0003762", + "Uterus didelphis": "HP:0003762", + "Uterus didelphus": "HP:0003762", + "Uterus duplex": "HP:0003762", + "Double uterus": "HP:0003762", + "Bruxism": "HP:0003763", + "Teeth grinding": "HP:0003763", + "Nevus": "HP:0003764", + "Mole": "HP:0003764", + "Naevus": "HP:0003764", + "Naevi": "HP:0003764", + "Nevi": "HP:0003764", + "Psoriasiform dermatitis": "HP:0003765", + "Psoriasis": "HP:0003765", + "Periodic paralysis": "HP:0003768", + "Episodic paralysis": "HP:0003768", + "Pulp calcification": "HP:0003771", + "Pulp calcifications": "HP:0003771", + "Pulp denticles": "HP:0003771", + "Pulp stones": "HP:0003771", + "Pulpoliths": "HP:0003771", + "False denticles": "HP:0003771", + "False pulp stones": "HP:0003771", + "True denticles": "HP:0003771", + "True pulp stones": "HP:0003771", + "Stage 5 chronic kidney disease": "HP:0003774", + "Chronic renal failure": "HP:0003774", + "End stage renal disease": "HP:0003774", + "End stage renal failure": "HP:0003774", + "End-stage renal disease": "HP:0003774", + "End-stage renal failure": "HP:0003774", + "Renal failure, endstage": "HP:0003774", + "Pili torti": "HP:0003777", + "Flattened and twisted hair": "HP:0003777", + "Short mandibular rami": "HP:0003778", + "Decreased size of mandibular ramus": "HP:0003778", + "Short body and ramus of mandible": "HP:0003778", + "Short mandibular ramus": "HP:0003778", + "Underdeveloped mandibular rami": "HP:0003778", + "Decreased height of mandibular ramus": "HP:0003778", + "Antegonial notching of mandible": "HP:0003779", + "Deep antegonial notch of mandible": "HP:0003779", + "Large antegonial notch of mandible": "HP:0003779", + "Excessive salivation": "HP:0003781", + "Excessive production of saliva": "HP:0003781", + "Hypersalivation": "HP:0003781", + "Mouth watering": "HP:0003781", + "Oversalivation": "HP:0003781", + "Ptyalism": "HP:0003781", + "Watery mouth": "HP:0003781", + "Eunuchoid habitus": "HP:0003782", + "obsolete Externally rotated/abducted legs": "HP:0003783", + "Type 1 collagen overmodification": "HP:0003784", + "Decreased CSF homovanillic acid concentration": "HP:0003785", + "Type 1 and type 2 muscle fiber minicore regions": "HP:0003787", + "Type 1 and type 2 muscle fibre minicore regions": "HP:0003787", + "Minicore myopathy": "HP:0003789", + "Deposits immunoreactive to beta-amyloid protein": "HP:0003791", + "Short middle phalanx of toe": "HP:0003795", + "Short middle bones (feet)": "HP:0003795", + "Short middle phalanges of toes": "HP:0003795", + "Irregular iliac crest": "HP:0003796", + "Limb-girdle muscle atrophy": "HP:0003797", + "Limb-girdle myopathy": "HP:0003797", + "Wasting of limb-girdle muscle": "HP:0003797", + "Nemaline bodies": "HP:0003798", + "Nemaline rods": "HP:0003798", + "Marked delay in bone age": "HP:0003799", + "Marked retardation in skeletal maturation": "HP:0003799", + "Markedly retarded bone age": "HP:0003799", + "Muscle abnormality related to mitochondrial dysfunction": "HP:0003800", + "Type 1 muscle fiber predominance": "HP:0003803", + "Type 1 muscle fibre predominance": "HP:0003803", + "Type I muscle fiber predominance": "HP:0003803", + "Type I muscle fibre predominance": "HP:0003803", + "Rimmed vacuoles": "HP:0003805", + "Rimmed vacuoles on biopsy": "HP:0003805", + "Abnormal muscle tone": "HP:0003808", + "Reduced intrathoracic adipose tissue": "HP:0003809", + "Late-onset distal muscle weakness": "HP:0003810", + "Neonatal death": "HP:0003811", + "Neonatal lethal": "HP:0003811", + "Phenotypic variability": "HP:0003812", + "Clinical heterogeneity": "HP:0003812", + "Highly variable clinical phenotype": "HP:0003812", + "Highly variable phenotype": "HP:0003812", + "Highly variable phenotype and severity": "HP:0003812", + "Highly variable phenotype, even within families": "HP:0003812", + "Variable phenotype": "HP:0003812", + "Variable phenotypic severity": "HP:0003812", + "Death in childhood": "HP:0003819", + "Stillbirth": "HP:0003826", + "Late fetal death": "HP:0003826", + "Late foetal death": "HP:0003826", + "Stillborn": "HP:0003826", + "Fetal death": "HP:0003826", + "Fetal demise": "HP:0003826", + "Foetal death": "HP:0003826", + "Foetal demise": "HP:0003826", + "Variable expressivity": "HP:0003828", + "Variable severity": "HP:0003828", + "Highly variable severity": "HP:0003828", + "Typified by incomplete penetrance": "HP:0003829", + "Incomplete penetrance": "HP:0003829", + "Reduced penetrance": "HP:0003829", + "Typified by age-related disease onset": "HP:0003831", + "Age dependent penetrance": "HP:0003831", + "Age-dependent penetrance": "HP:0003831", + "Typified by age-related penetrance": "HP:0003831", + "Abnormality of the tibial plateaux": "HP:0003832", + "Laterally deficient tibial plateaux": "HP:0003833", + "Shoulder dislocation": "HP:0003834", + "Shoulder subluxation": "HP:0003835", + "Partial shoulder dislocation": "HP:0003835", + "Stippled calcification of the shoulder": "HP:0003836", + "Soft-tissue ossification around the shoulders": "HP:0003837", + "Calcification of the soft-tissue around the shoulders": "HP:0003837", + "Abnormal upper limb epiphysis morphology": "HP:0003839", + "Abnormal shape of end part of upper limb long bones": "HP:0003839", + "Abnormality involving the epiphyses of the upper limbs": "HP:0003839", + "Abnormality of upper limb epiphysis morphology": "HP:0003839", + "Epihyseal plate abnormality of the upper limbs": "HP:0003839", + "Delayed upper limb epiphyseal ossification": "HP:0003840", + "Delayed maturation of the end part of the upper limb bone": "HP:0003840", + "Fragmented epiphyses of the upper limbs": "HP:0003841", + "Fragmented end part of upper limb bones": "HP:0003841", + "Irregular epiphyses of the upper limbs": "HP:0003842", + "Irregular end part of upper limb bones": "HP:0003842", + "Round epiphyses of the upper limbs": "HP:0003843", + "Round end part of upper limb bones": "HP:0003843", + "Small epiphyses of the upper limbs": "HP:0003844", + "Small end part of upper limb bones": "HP:0003844", + "Wide epiphyseal plates of the upper limbs": "HP:0003846", + "Broad epiphyseal plates of the upper limbs": "HP:0003846", + "Broad growth plates of upper limbs": "HP:0003846", + "Cupped metaphyses of the upper limbs": "HP:0003848", + "Cupped wide portion of the upper limb bone": "HP:0003848", + "Flared upper limb metaphysis": "HP:0003849", + "Flared metaphyses of the upper limbs": "HP:0003849", + "Flared wide portion of the upper limb bone": "HP:0003849", + "Upper-limb metaphyseal irregularity": "HP:0003850", + "Irregular metaphyses of the upper limbs": "HP:0003850", + "Irregular wide portion of upper limb bones": "HP:0003850", + "Lytic defects in metaphyses of the upper limbs": "HP:0003851", + "Normal density transverse bands in metaphyses of the upper limbs": "HP:0003852", + "Sclerosis with transverse striations in metaphyses of the upper limbs": "HP:0003853", + "Sclerosis of metaphyses of the upper limbs": "HP:0003854", + "Increased bone density in wide portion of the upper limb bones": "HP:0003854", + "Spurred metaphyses of the upper limbs": "HP:0003855", + "Spurred wide portion of upper limb bone": "HP:0003855", + "Upper limb metaphyseal widening": "HP:0003856", + "Broad wide portion of upper limb bone": "HP:0003856", + "Wide/broad metaphyses of the upper limbs": "HP:0003856", + "Cortical diaphyseal irregularity of the upper limbs": "HP:0003858", + "Cortical diaphyseal thickening of the upper limbs": "HP:0003859", + "Diaphyseal sclerosis of the upper limbs": "HP:0003860", + "Increased bone density in central part of long bone of upper limbs": "HP:0003860", + "Broad diaphyses of the upper limbs": "HP:0003861", + "Broad shaft of long bone of the upper limbs": "HP:0003861", + "Wide diaphyses of the upper limbs": "HP:0003861", + "Wide shaft of long bone of the upper limbs": "HP:0003861", + "Absent humerus": "HP:0003862", + "Absent long bone in upper arm": "HP:0003862", + "Aplasia of the humerus": "HP:0003862", + "Aplastic humerus": "HP:0003862", + "Angulated humerus": "HP:0003863", + "Angulated long bone in upper arm": "HP:0003863", + "Bifid humerus": "HP:0003864", + "Notched long bone in upper arm": "HP:0003864", + "Bowed humerus": "HP:0003865", + "Bowed long bone in upper arm": "HP:0003865", + "Bowing of the humerus": "HP:0003865", + "Humeral bowing": "HP:0003865", + "Coarse humeral trabeculae": "HP:0003866", + "Humeral cortical irregularity": "HP:0003867", + "Humeral cortical thickening": "HP:0003868", + "Humeral cortical thinning": "HP:0003869", + "Crumpled humerus": "HP:0003870", + "Crumpled long bone in upper arm": "HP:0003870", + "Deformed humerus": "HP:0003871", + "Deformed long bone in upper arm": "HP:0003871", + "Humeral exostoses": "HP:0003872", + "Humerus varus": "HP:0003874", + "Humeral lytic defects": "HP:0003875", + "Lytic defects of the humerus": "HP:0003875", + "Osteoporotic humerus": "HP:0003876", + "Oval transradiancy of humerus": "HP:0003877", + "Humeral oval transradiancy": "HP:0003877", + "Periosteal new bone of humerus": "HP:0003878", + "Humeral pseudarthrosis": "HP:0003879", + "False joint (long bone in upper arm)": "HP:0003879", + "Sclerotic foci of the humerus": "HP:0003880", + "Humeral sclerotic foci": "HP:0003880", + "Humeral sclerosis": "HP:0003881", + "Increased bone density in long bone of upper arm": "HP:0003881", + "Sclerosis of humerus": "HP:0003881", + "Slender humerus": "HP:0003882", + "Slender long bone of upper arm": "HP:0003882", + "Tapered humerus": "HP:0003883", + "Tapered long bone of upper arm": "HP:0003883", + "Triangular humerus": "HP:0003884", + "Triangular long bone of upper arm": "HP:0003884", + "Undermodeled humerus": "HP:0003885", + "Wide humerus": "HP:0003886", + "Broad humerus": "HP:0003886", + "Wide long bone of upper arm": "HP:0003886", + "Abnormal humeral head morphology": "HP:0003887", + "Abnormal head of long bone in upper arm": "HP:0003887", + "Abnormality of the humeral heads": "HP:0003887", + "Flattened humeral heads": "HP:0003888", + "Flattended head of long bone in upper arm": "HP:0003888", + "Abnormal deltoid tuberosity morphology": "HP:0003889", + "Abnormality of the deltoid tuberosities": "HP:0003889", + "Prominent deltoid tuberosities": "HP:0003890", + "Abnormal humeral epiphysis morphology": "HP:0003891", + "Abnormality of end part of the long bone of the upper arm": "HP:0003891", + "Abnormality of the humeral epiphyses": "HP:0003891", + "Abnormality of the humeral epiphysis": "HP:0003891", + "Absent humeral epiphyseal ossification": "HP:0003892", + "Absent maturation of end part of long bone in upper arm": "HP:0003892", + "Absent ossification of the humeral epiphyses": "HP:0003892", + "Advanced ossification of the humeral epiphysis": "HP:0003893", + "Accelerated maturation of end part of long bone in upper arm": "HP:0003893", + "Advanced maturation of the humeral epiphyses": "HP:0003893", + "Delayed humeral epiphyseal ossification": "HP:0003894", + "Delayed maturation/delayed ossification of the humeral epiphyses": "HP:0003894", + "Delayed maturation of the end part of the long bone in upper arm": "HP:0003894", + "Flattened humeral epiphyses": "HP:0003895", + "Flattened end part of long bone in upper arm": "HP:0003895", + "Irregular humeral epiphyses": "HP:0003896", + "Irregular end part of long bone in upper arm": "HP:0003896", + "Irregular ossification of the humeral epiphyses": "HP:0003897", + "Irregular maturation of the end part of the long bone in upper arm": "HP:0003897", + "Large humeral epiphyses": "HP:0003898", + "Large end part of long bone in upper arm": "HP:0003898", + "Round humeral epiphyses": "HP:0003899", + "Round end part of long bone in upper arm": "HP:0003899", + "Small humeral epiphyses": "HP:0003900", + "Small end part of long bone in upper arm": "HP:0003900", + "Stippled calcification of the humeral epiphyses": "HP:0003901", + "Epiphyseal stippling of the humerus": "HP:0003902", + "Stippled ossification of the humeral epiphyses": "HP:0003902", + "Broad humeral epiphyses": "HP:0003903", + "Wide end part of long bone in upper arm": "HP:0003903", + "Wide humeral epiphyses": "HP:0003903", + "Wide epiphyses of the upper limbs": "HP:0003904", + "Broad epiphyses of the upper limbs": "HP:0003904", + "Wide end part of upper limb bones": "HP:0003904", + "Abnormality of the humeral epiphyseal plate": "HP:0003905", + "Abnormality of arm long bone growth plate": "HP:0003905", + "Broad humeral epiphyseal plate": "HP:0003906", + "Wide long bone of arm growth plate": "HP:0003906", + "Wide humeral epiphyseal plate": "HP:0003906", + "Abnormal humeral metaphysis morphology": "HP:0003907", + "Abnormality of the humeral metaphyses": "HP:0003907", + "Abnormality of the wide portion of the long bone in upper arm": "HP:0003907", + "Corner fracture of metaphysis": "HP:0003908", + "Bucket handle fracture": "HP:0003908", + "Metaphyseal corner fracture": "HP:0003908", + "Cortical subperiosteal resorption of humeral metaphyses": "HP:0003909", + "Enlarged humeral metaphyses": "HP:0003910", + "Enlarged wide portion of long bone of upper arm": "HP:0003910", + "Expanded humeral metaphyses": "HP:0003910", + "Flared humeral metaphysis": "HP:0003911", + "Flared wide portion of long bone of upper arm": "HP:0003911", + "Wide/broad humeral metaphysis": "HP:0003911", + "Flared humerus": "HP:0003911", + "Frayed humeral metaphyses": "HP:0003912", + "Humeral metaphyseal irregularity": "HP:0003913", + "Irregular humeral metaphyses": "HP:0003913", + "Irregular wide portion of long bone in upper arm": "HP:0003913", + "Irregular ossification of humeral metaphyses": "HP:0003914", + "Irregular bone maturation of the wide portion of the long bone in upper arm": "HP:0003914", + "Lytic defects of the humeral metaphysis": "HP:0003915", + "Normal-density transverse humeral bands": "HP:0003916", + "Pointed humeral metaphysis": "HP:0003917", + "Pointed wide portion of long bone of upper arm": "HP:0003917", + "Sclerotic humeral metaphysis": "HP:0003918", + "Hardening of wide portion of long bone of upper arm": "HP:0003918", + "Stiffening of wide portion of long bone of upper arm": "HP:0003918", + "Sclerotic humeral metaphysis with longitudinal striations": "HP:0003919", + "Sloping humeral metaphysis": "HP:0003920", + "Sloping metaphysis of long bone of upper arm": "HP:0003920", + "Laterally sloping humeral metaphysis": "HP:0003921", + "Laterally sloping metaphysis of long bone of upper arm": "HP:0003921", + "Spurred humeral metaphysis": "HP:0003922", + "Spurred metaphysis of long bone of upper arm": "HP:0003922", + "Square humeral metaphysis": "HP:0003923", + "Square metaphysis of long bone of upper arm": "HP:0003923", + "Stippled calcification of humeral metaphysis": "HP:0003924", + "Speckled calcification in metaphysis of long bone of upper arm": "HP:0003924", + "Abnormal humeral diaphysis morphology": "HP:0003926", + "Abnormality of shaft of long bone in upper arm": "HP:0003926", + "Abnormality of the humeral diaphysis": "HP:0003926", + "Cortical irregularity of humeral diaphysis": "HP:0003927", + "Cortical thickening of humeral diaphysis": "HP:0003928", + "Ground glass opacity of humeral diaphysis": "HP:0003929", + "Lytic defects of humeral diaphysis": "HP:0003930", + "Humeral diaphyseal lysis": "HP:0003930", + "Periosteal new bone of humeral diaphysis": "HP:0003931", + "Sclerotic foci of humeral diaphysis": "HP:0003932", + "Sclerosis of humeral diaphysis": "HP:0003933", + "Increased bone density in shaft of long bone in upper arm": "HP:0003933", + "Slender humeral diaphysis": "HP:0003934", + "Slender shaft of long bone in upper arm": "HP:0003934", + "Wide humeral diaphysis": "HP:0003935", + "Broad humeral diaphysis": "HP:0003935", + "Broad shaft of long bone in upper arm": "HP:0003935", + "Wide shaft of long bone in upper arm": "HP:0003935", + "Synostosis involving the elbow": "HP:0003938", + "Bone fusion involving the elbow": "HP:0003938", + "Humeroulnar synostosis": "HP:0003939", + "Humeral ulnar synostosis": "HP:0003939", + "Osteoarthritis of the elbow": "HP:0003940", + "Stippled calcification of the elbow": "HP:0003941", + "Synovial chondromatosis of the elbow": "HP:0003942", + "Abnormality of the joint spaces of the elbow": "HP:0003943", + "Narrow joint spaces of the elbow": "HP:0003944", + "Irregular articular surfaces of the elbow joints": "HP:0003945", + "Abnormality of the epiphyses of the elbow": "HP:0003946", + "Abnormality of end part of the elbow bone": "HP:0003946", + "Delayed elbow epiphyseal ossification": "HP:0003947", + "Delayed maturation of the end part of the elbow bone": "HP:0003947", + "Irregular epiphyses of the elbow": "HP:0003948", + "Irregular end part of the elbow bone": "HP:0003948", + "Abnormal elbow metaphysis morphology": "HP:0003949", + "Abnormal wide portion of elbow bone": "HP:0003949", + "Flared elbow metaphyses": "HP:0003950", + "Flared wide portion of elbow bone": "HP:0003950", + "Distal humeral metaphyseal irregularity": "HP:0003951", + "Irregular metaphyses of elbow": "HP:0003951", + "Irregular wide portion of elbow bone": "HP:0003951", + "Sclerotic foci of metaphyses of the elbow": "HP:0003952", + "Vertical linear mixed lucent and sclerotic pattern of metaphyses": "HP:0003952", + "Absent forearm bone": "HP:0003953", + "Aplasia of the forearm bones": "HP:0003953", + "Angulated forearm bones": "HP:0003954", + "Bone-in-a-bone appearance of forearm": "HP:0003955", + "Bowed forearm bones": "HP:0003956", + "Cortical thickening of the forearm bones": "HP:0003957", + "Cross-fusion of the forearm bones": "HP:0003958", + "Deformed forearm bones": "HP:0003959", + "Exostoses of the forearm bones": "HP:0003960", + "Fractured forearm bone": "HP:0003961", + "Broken forearm": "HP:0003961", + "Fracture of the forearm": "HP:0003961", + "Fractured forearm bones": "HP:0003961", + "Lytic defects of the forearm bones": "HP:0003963", + "Osteoporotic forearm bones": "HP:0003964", + "Pseudarthrosis of the forearm bones": "HP:0003965", + "Sclerotic foci in forearm bones": "HP:0003966", + "Sclerotic forearm bones": "HP:0003967", + "Increased bone density of forearm bones": "HP:0003967", + "Slender forearm bones": "HP:0003969", + "Undermodelled forearm bones": "HP:0003970", + "Broad forearm bones": "HP:0003971", + "Wide forearm bones": "HP:0003971", + "Wide radioulnar joints": "HP:0003973", + "Broad radioulnar joints": "HP:0003973", + "Absent radius": "HP:0003974", + "Absent ossification/absence of radius": "HP:0003974", + "Aplasia of the radius": "HP:0003974", + "Missing outer large bone of forearm": "HP:0003974", + "Radial aplasia": "HP:0003974", + "absence of radius and ulna": "HP:0003974", + "obsolete Chevron-shaped/cone-shaped radius": "HP:0003975", + "Constricted radius": "HP:0003976", + "Deformed radius": "HP:0003977", + "Fractured radius": "HP:0003978", + "Lytic defects of the radius": "HP:0003979", + "Pseudarthrosis of the radius": "HP:0003980", + "Broad radius": "HP:0003981", + "Wide radius": "HP:0003981", + "Aplasia of the ulna": "HP:0003982", + "Absent ossification/absent ulna": "HP:0003982", + "Absent ulna": "HP:0003982", + "Absent ulnae": "HP:0003982", + "Posteriorly dislocated ulna": "HP:0003984", + "Exostoses of the ulna": "HP:0003985", + "Exostoses of the radius": "HP:0003986", + "Fractured ulna": "HP:0003987", + "Long ulna": "HP:0003988", + "Disproportionately long ulnae": "HP:0003988", + "Notched ulna": "HP:0003989", + "Pointed ulna": "HP:0003990", + "Osteosclerosis of the ulna": "HP:0003991", + "Sclerotic ulna": "HP:0003991", + "Slender ulna": "HP:0003992", + "Broad ulna": "HP:0003993", + "Wide ulna": "HP:0003993", + "Dislocated wrist": "HP:0003994", + "Dislocations of the wrists": "HP:0003994", + "Abnormality of the radial head": "HP:0003995", + "Deformity of radial heads": "HP:0003995", + "Flattened radial head": "HP:0003996", + "Hypoplastic radial head": "HP:0003997", + "Small radial head": "HP:0003997", + "Constricted radial neck": "HP:0003998", + "Abnormality of radial epiphyses": "HP:0003999", + "Abnormality of radial epiphyseal plates": "HP:0003999", + "Cone-shaped distal radial epiphysis": "HP:0004000", + "Chevron-shaped distal radial epiphysis": "HP:0004000", + "Medially deficient radial epiphyses": "HP:0004001", + "Flattened radial epiphyses": "HP:0004002", + "Medially flattened radial epiphyses": "HP:0004003", + "Irregular radial epiphyses": "HP:0004004", + "Large radial epiphyses": "HP:0004005", + "Round radial epiphyses": "HP:0004006", + "Sclerotic radial epiphyses": "HP:0004007", + "Sloping radial epiphyses": "HP:0004008", + "Medially sloping radial epiphyses": "HP:0004009", + "Small radial epiphyses": "HP:0004010", + "Premature fusion of the radial epiphyseal plates": "HP:0004012", + "Medially fused radial epiphyseal plates": "HP:0004013", + "Broad radial epiphyseal plate": "HP:0004014", + "Wide radial epiphyseal plates": "HP:0004014", + "Abnormal radial metaphysis morphology": "HP:0004015", + "Abnormality of radial metaphyses": "HP:0004015", + "Cupped radial metaphyses": "HP:0004016", + "Exostoses of the radial metaphysis": "HP:0004017", + "Flared radial metaphysis": "HP:0004018", + "Broadening of the distal radius": "HP:0004018", + "Radial metaphyseal irregularity": "HP:0004019", + "Irregular radial metaphysis": "HP:0004019", + "Irregular ossification of the radial metaphysis": "HP:0004020", + "Lytic defects of radial metaphysis": "HP:0004021", + "Sclerotic radial metaphysis with longitudinal striations": "HP:0004022", + "Sloping radial metaphysis": "HP:0004023", + "Medially sloping radial metaphysis": "HP:0004024", + "Spurred radial metaphysis": "HP:0004025", + "Broad radial metaphysis": "HP:0004026", + "Wide radial metaphysis": "HP:0004026", + "Abnormality of radial diaphysis": "HP:0004027", + "Spurs of radial diaphysis": "HP:0004028", + "Lytic defects of radial diaphysis": "HP:0004029", + "Patchy sclerosis of radial diaphysis": "HP:0004030", + "Broad radial diaphysis": "HP:0004031", + "Wide radial diaphysis": "HP:0004031", + "Abnormal olecranon morphology": "HP:0004032", + "Abnormality of the olecranon": "HP:0004032", + "Curved olecranon": "HP:0004033", + "Irregular olecranon": "HP:0004034", + "Abnormal ulnar styloid process morphology": "HP:0004035", + "Abnormality of the styloid process of ulna": "HP:0004035", + "Long styloid process of ulna": "HP:0004036", + "Abnormal ulnar epiphysis morphology": "HP:0004037", + "Abnormality of the epiphyseal plate of the ulna": "HP:0004037", + "Abnormality of the ulnar epiphyses": "HP:0004037", + "obsolete Bony spicule of ulnar epiphyseal plate": "HP:0004038", + "Abnormal ulnar metaphysis morphology": "HP:0004039", + "Abnormality of ulnar metaphysis": "HP:0004039", + "Corner fragments of ulnar metaphysis": "HP:0004040", + "Cupped ulnar metaphysis": "HP:0004041", + "Ulnar metaphyseal irregularity": "HP:0004042", + "Irregular ulnar metaphysis": "HP:0004042", + "Lytic defects of ulnar metaphysis": "HP:0004043", + "Pointed ulnar metaphysis": "HP:0004044", + "Sloping ulnar metaphysis": "HP:0004045", + "Spurred ulnar metaphysis": "HP:0004046", + "Wide ulnar metaphysis": "HP:0004047", + "Broad ulnar metaphysis": "HP:0004047", + "Narrow joint spaces of wrist": "HP:0004048", + "Decreased carpal angles of wrist": "HP:0004049", + "Absent hand": "HP:0004050", + "Acheiria": "HP:0004050", + "Advanced ossification of the hand bones": "HP:0004051", + "Accelerated maturation of hand bones": "HP:0004051", + "Advanced maturation of the hand bones": "HP:0004051", + "Delayed ossification of the hand bones": "HP:0004052", + "Delay maturation/delayed ossification of the hand": "HP:0004052", + "Delayed maturation of the hand bones": "HP:0004052", + "Dysharmonic maturation of the hand bones": "HP:0004053", + "Disharmonic maturation of the hand bones": "HP:0004053", + "Dysharmonic ossification of the hand bones": "HP:0004053", + "Sclerosis of hand bone": "HP:0004054", + "Generalised sclerosis of hand bones": "HP:0004054", + "Generalized sclerosis of hand bones": "HP:0004054", + "Hand bone sclerosis": "HP:0004054", + "Increased bone density in hand bone": "HP:0004054", + "Increased bone density in hand bones": "HP:0004054", + "Mitten deformity": "HP:0004057", + "Pseudosyndactyly": "HP:0004057", + "Hand monodactyly": "HP:0004058", + "Radial club hand": "HP:0004059", + "Trident hand": "HP:0004060", + "trident abnormality": "HP:0004060", + "trident deformity": "HP:0004060", + "obsolete Laterally deviated thumb phalanges": "HP:0004066", + "obsolete Laterally deviated terminal thumb phalanx": "HP:0004083", + "obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis": "HP:0004090", + "Curved fingers": "HP:0004095", + "Deviation of finger": "HP:0004097", + "Atypical position of finger": "HP:0004097", + "Deviated fingers": "HP:0004097", + "Finger pointing in a different direction than usual": "HP:0004097", + "Macrodactyly": "HP:0004099", + "Finger overgrowth": "HP:0004099", + "Megalodactyly": "HP:0004099", + "Abnormal 2nd finger morphology": "HP:0004100", + "Abnormality of index finger": "HP:0004100", + "Abnormality of the 2nd finger": "HP:0004100", + "obsolete Radially deviated index finger phalanges": "HP:0004110", + "Midline nasal groove": "HP:0004112", + "Central nasal groove": "HP:0004112", + "obsolete Radially displaced proximal index finger phalanx": "HP:0004121", + "Midline defect of the nose": "HP:0004122", + "Central defect of nose": "HP:0004122", + "Central nasal defect": "HP:0004122", + "Midline nasal defect": "HP:0004122", + "Central cleft of nose": "HP:0004122", + "Midline cleft of nose": "HP:0004122", + "Dimple on nasal tip": "HP:0004132", + "Dimpled tip of nose": "HP:0004132", + "obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger": "HP:0004138", + "obsolete Flared metaphysis of middle phalanx of index finger": "HP:0004139", + "obsolete Radially deviated terminal index finger phalanx": "HP:0004143", + "obsolete Duplication of terminal index finger phalanx": "HP:0004144", + "Abnormal 3rd finger morphology": "HP:0004150", + "Abnormality of the 3rd finger": "HP:0004150", + "Abnormality of the middle finger": "HP:0004150", + "obsolete Overgrowth of middle finger": "HP:0004153", + "obsolete Accessory middle-finger phalanges": "HP:0004157", + "obsolete Periosteal new bone of middle finger phalanges": "HP:0004161", + "obsolete Radially pointed middle finger phalanges": "HP:0004162", + "obsolete Radially pointed proximal middle-finger phalanx": "HP:0004168", + "Abnormality of the middle phalanx of the 3rd finger": "HP:0004172", + "Abnormal middle finger bone of the middle finger": "HP:0004172", + "obsolete Accessory middle phalanx of middle finger": "HP:0004174", + "obsolete Periosteal new bone of middle phalanx of middle-finger": "HP:0004175", + "Short distal phalanx of the 3rd finger": "HP:0004180", + "Hypoplastic/small distal phalanx of the 3rd finger": "HP:0004180", + "Short distal phalanx of the third finger": "HP:0004180", + "Short outermost bone of the middle finger": "HP:0004180", + "Short terminal phalanx of middle finger": "HP:0004180", + "obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger": "HP:0004183", + "obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger": "HP:0004184", + "obsolete Fused epiphysis of terminal phalanx of the middle finger": "HP:0004185", + "obsolete Large epiphysis of terminal phalanx of the middle finger": "HP:0004186", + "obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger": "HP:0004187", + "Abnormal 4th finger morphology": "HP:0004188", + "Abnormality of the 4th finger": "HP:0004188", + "Abnormality of the ring finger": "HP:0004188", + "obsolete Bracket epiphyses of the 4th finger": "HP:0004192", + "obsolete Expanded phalanges of the ring finger": "HP:0004193", + "obsolete Hypoplastic phalanges of the ring finger": "HP:0004194", + "Osteolytic defects of the phalanges of the 4th finger": "HP:0004195", + "Lytic defects of the phalanges of the ring finger": "HP:0004195", + "obsolete Short phalanges of the ring finger": "HP:0004196", + "Symphalangism of the 4th finger": "HP:0004197", + "Fused ring finger bones": "HP:0004197", + "Symphalangism of the ring finger": "HP:0004197", + "obsolete Wide/broad phalanges of the ring finger": "HP:0004198", + "obsolete Expanded proximal phalanx of the ring finger": "HP:0004201", + "obsolete Lytic defects of the proximal phalanx of the ring finger": "HP:0004202", + "obsolete Short proximal phalanx of the ring finger": "HP:0004203", + "Abnormal 5th finger morphology": "HP:0004207", + "Abnormality of the 5th finger": "HP:0004207", + "Abnormality of the little finger": "HP:0004207", + "Abnormality of the pinkie finger": "HP:0004207", + "Abnormality of the pinky finger": "HP:0004207", + "Clinodactyly of the 5th finger": "HP:0004209", + "Curvature of little finger": "HP:0004209", + "Curvature of pinkie finger": "HP:0004209", + "Curvature of pinky finger": "HP:0004209", + "Bilateral fifth digit clinodactyly": "HP:0004209", + "Bilateral fifth finger clinodactyly": "HP:0004209", + "Clinodactyly of fifth digit": "HP:0004209", + "Clinodactyly of the little finger": "HP:0004209", + "Fifth finger clinodactyly": "HP:0004209", + "Permanent curving of the pinkie finger": "HP:0004209", + "Abnormal 5th finger phalanx morphology": "HP:0004213", + "Abnormality of the little finger bone": "HP:0004213", + "Abnormality of the phalanges of the 5th finger": "HP:0004213", + "Abnormality of the pinkie finger bone": "HP:0004213", + "Abnormality of the pinky finger bone": "HP:0004213", + "Curved phalanges of the 5th finger": "HP:0004214", + "Curved little finger bone": "HP:0004214", + "Curved pinkie finger bone": "HP:0004214", + "Curved pinky finger bone": "HP:0004214", + "Osteolytic defects of the phalanges of the 5th finger": "HP:0004216", + "Lytic defects of the phalanges of the little finger": "HP:0004216", + "Symphalangism of the 5th finger": "HP:0004218", + "Fifth finger symphalangism": "HP:0004218", + "Fused little finger bones": "HP:0004218", + "Fused pinkie finger bones": "HP:0004218", + "Fused pinky finger bones": "HP:0004218", + "Symphalagism of the little finger": "HP:0004218", + "Abnormality of the middle phalanx of the 5th finger": "HP:0004219", + "Abnormality of the middle bone of little finger": "HP:0004219", + "Abnormality of the middle bone of pinkie finger": "HP:0004219", + "Abnormality of the middle bone of pinky finger": "HP:0004219", + "Short middle phalanx of the 5th finger": "HP:0004220", + "5th finger middle phalangeal hypoplasia": "HP:0004220", + "Brachymesophalangism V": "HP:0004220", + "Brachymesophalangy V (finger)": "HP:0004220", + "Fifth finger mid-phalanx hypoplasia": "HP:0004220", + "Hypoplastic fifth finger middle phalanx": "HP:0004220", + "Hypoplastic middle phalanx of the 5th finger": "HP:0004220", + "Hypoplastic/small middle phalanx of the 5th finger": "HP:0004220", + "Hypoplastic/small middle phalanx of the little finger": "HP:0004220", + "Short middle bone of the little finger": "HP:0004220", + "Short middle bone of the pinkie finger": "HP:0004220", + "Short middle bone of the pinky finger": "HP:0004220", + "Short middle phalanx of the little finger": "HP:0004220", + "Type A3 brachydactyly": "HP:0004220", + "Cone-shaped epiphysis of the distal phalanx of the 5th finger": "HP:0004222", + "Cone-shaped end part of the outermost little finger bone": "HP:0004222", + "Cone-shaped end part of the outermost pinkie finger bone": "HP:0004222", + "Cone-shaped end part of the outermost pinky finger bone": "HP:0004222", + "Cone-shaped epiphysis of the distal phalanx of the little finger": "HP:0004222", + "Ivory epiphysis of the distal phalanx of the 5th finger": "HP:0004223", + "Increased bone density of end part of the outermost little finger bone": "HP:0004223", + "Increased bone density of end part of the outermost pinkie finger bone": "HP:0004223", + "Increased bone density of end part of the outermost pinky finger bone": "HP:0004223", + "Ivory epiphysis of the distal phalanx of the little finger": "HP:0004223", + "Ivory epiphysis of the terminal phalanx of the little finger": "HP:0004223", + "Abnormality of the epiphysis of the middle phalanx of the 5th finger": "HP:0004224", + "Abnormality of the end part of middle little finger bone": "HP:0004224", + "Abnormality of the end part of middle pinkie finger bone": "HP:0004224", + "Abnormality of the end part of middle pinky finger bone": "HP:0004224", + "Abnormality of the distal phalanx of the 5th finger": "HP:0004225", + "Abnormality of the distal phalanx of the little finger": "HP:0004225", + "Abnormality of the outermost little finger bone": "HP:0004225", + "Abnormality of the outermost pinkie finger bone": "HP:0004225", + "Abnormality of the outermost pinky finger bone": "HP:0004225", + "Abnormality of the terminal phalanx of the little finger": "HP:0004225", + "Curved distal phalanx of the 5th finger": "HP:0004226", + "Curved outermost little finger bone": "HP:0004226", + "Curved outermost pinkie finger bone": "HP:0004226", + "Curved outermost pinky finger bone": "HP:0004226", + "Curved terminal phalanx of the little finger": "HP:0004226", + "Short distal phalanx of the 5th finger": "HP:0004227", + "Brachytelophalangism V": "HP:0004227", + "Fifth digit distal phalangeal hypoplasia": "HP:0004227", + "Hypoplastic/small terminal phalanx of the little finger": "HP:0004227", + "Short distal phalanx of the fifth finger": "HP:0004227", + "Short outermost little finger bone": "HP:0004227", + "Short outermost pinkie finger bone": "HP:0004227", + "Short outermost pinky finger bone": "HP:0004227", + "Subluxation of the proximal interphalangeal joint of the little finger": "HP:0004230", + "Partially dislocated innermost hinge joint of little finger": "HP:0004230", + "Partially dislocated innermost hinge joint of pinkie finger": "HP:0004230", + "Partially dislocated innermost hinge joint of pinky finger": "HP:0004230", + "Carpal bone aplasia": "HP:0004231", + "Absent wrist bone": "HP:0004231", + "Missing wrist bone": "HP:0004231", + "Absent carpal bone": "HP:0004231", + "Absent carpal bones": "HP:0004231", + "Absent carpal ossification center": "HP:0004231", + "Absent carpal ossification centre": "HP:0004231", + "Aplastic carpal bone": "HP:0004231", + "Accessory carpal bones": "HP:0004232", + "Extra wrist bones": "HP:0004232", + "Supernumerary carpal bones": "HP:0004232", + "Advanced ossification of carpal bones": "HP:0004233", + "Accelerated wrist bone maturation": "HP:0004233", + "Accelerated carpal bone maturation": "HP:0004233", + "Advanced carpal bone age": "HP:0004233", + "Advanced carpal ossification": "HP:0004233", + "Precociously ossified carpal bones": "HP:0004233", + "Bone-in-a-bone appearance of carpal bones": "HP:0004234", + "Bone-in-a-bone appearance of wrist bones": "HP:0004234", + "Comma-shaped carpal bones": "HP:0004235", + "Comma-shaped wrist bones": "HP:0004235", + "Irregular carpal bones": "HP:0004236", + "Irregular wrist bones": "HP:0004236", + "Large carpal bones": "HP:0004237", + "Large wrist bones": "HP:0004237", + "Large carpals": "HP:0004237", + "Lytic defects of carpal bones": "HP:0004238", + "Proximally placed carpal bones": "HP:0004239", + "Sclerotic foci within carpal bones": "HP:0004240", + "Hardened spots within wrist bones": "HP:0004240", + "Stiffened spots within wrist bones": "HP:0004240", + "Stippled calcification in carpal bones": "HP:0004241", + "Punctate calcifications of carpals": "HP:0004241", + "Broad carpal bones": "HP:0004242", + "Wide wrist bones": "HP:0004242", + "Wide carpal bones": "HP:0004242", + "Abnormal scaphoid morphology": "HP:0004243", + "Abnormality of the scaphoid": "HP:0004243", + "Accessory scaphoid": "HP:0004244", + "Bipartite scaphoid": "HP:0004244", + "Comma-shaped scaphoid": "HP:0004245", + "Delayed ossification of the scaphoid": "HP:0004246", + "Delayed maturation of the scaphoid": "HP:0004246", + "Small scaphoid": "HP:0004247", + "Abnormal lunate bone morphology": "HP:0004248", + "Accessory lunate": "HP:0004249", + "Proximally placed lunate": "HP:0004250", + "Lunate-triquetral fusion": "HP:0004251", + "Lunotriquetral synostosis": "HP:0004251", + "Abnormal trapezium morphology": "HP:0004252", + "Absent trapezium": "HP:0004253", + "Absent trapezium bone": "HP:0004253", + "Delayed ossification of the trapezium": "HP:0004254", + "Delayed maturation of the trapezium": "HP:0004254", + "Small trapezium": "HP:0004255", + "Abnormal trapezoid bone morphology": "HP:0004256", + "Abnormality of the trapezoid bone": "HP:0004256", + "Delayed ossification of the trapezoid bone": "HP:0004257", + "Delayed maturation of the trapezoid bone": "HP:0004257", + "Small trapezoid bone": "HP:0004258", + "Abnormal hamate bone morphology": "HP:0004259", + "Abnormality of the hamate bone": "HP:0004259", + "Large hamate bone": "HP:0004260", + "Large unciform bone": "HP:0004260", + "Wide hamate bone": "HP:0004261", + "Broad hamate bone": "HP:0004261", + "Wide unciform bone": "HP:0004261", + "Abnormal capitate bone morphology": "HP:0004262", + "Abnormality of the capitate bone": "HP:0004262", + "Large capitate bone": "HP:0004263", + "Narrow carpal joint spaces": "HP:0004264", + "Decreased carpal joint angles": "HP:0004264", + "Narrow small joints of the hand": "HP:0004267", + "Osteoarthritis of the small joints of the hand": "HP:0004268", + "Subluxation of the small joints of the hand": "HP:0004269", + "Partial dislocation of small joints of hand": "HP:0004269", + "Cortical thickening of hand bones": "HP:0004271", + "Cortical thinning of hand bones": "HP:0004272", + "Cupped metaphyses of hand bones": "HP:0004273", + "Cupped metaphysis of hand bones": "HP:0004273", + "Cupped wide portion of hand bones": "HP:0004273", + "Deficient ossification of hand bones": "HP:0004274", + "Deficient maturation of hand bones": "HP:0004274", + "Duplication of hand bones": "HP:0004275", + "Exostoses of hand bones": "HP:0004276", + "Fractured hand bones": "HP:0004277", + "Broken hand bones": "HP:0004277", + "Synostosis involving bones of the hand": "HP:0004278", + "Fused hand bones": "HP:0004278", + "Short palm": "HP:0004279", + "Hypoplastic hands": "HP:0004279", + "Short hands": "HP:0004279", + "Short palms": "HP:0004279", + "Irregular ossification of hand bones": "HP:0004280", + "Irregular maturation of hand bones": "HP:0004280", + "Irregular sclerosis of hand bones": "HP:0004281", + "Narrow palm": "HP:0004283", + "Narrow hand": "HP:0004283", + "Narrow hands": "HP:0004283", + "Notched hand bones": "HP:0004284", + "Overmodelled hand bones": "HP:0004285", + "Patchy sclerosis of hand bones": "HP:0004286", + "Uneven increase in bone density in hand bones": "HP:0004286", + "Pointed hand bones": "HP:0004287", + "Pseudoepiphyses of hand bones": "HP:0004288", + "Sclerotic foci in hand bones": "HP:0004289", + "Sclerosis of hand bones with transverse striations": "HP:0004290", + "Stippled calcification of hand bones": "HP:0004291", + "Undermodelled hand bones": "HP:0004292", + "Synostosis of second metacarpal-trapezoid": "HP:0004293", + "Fusion of second metacarpal-trapezoid": "HP:0004293", + "Subluxation of metacarpal phalangeal joints": "HP:0004294", + "Partial knuckle dislocation": "HP:0004294", + "Subluxation of metacarpophalangeal joints": "HP:0004294", + "Abnormal gastric mucosa morphology": "HP:0004295", + "Abnormality of the gastric mucosa": "HP:0004295", + "Abnormality of the mucous membrane layer of stomach": "HP:0004295", + "Abnormal gastrointestinal vascular morphology": "HP:0004296", + "Abnormality of GI blood vessels": "HP:0004296", + "Abnormality of GI vasculature": "HP:0004296", + "Abnormality of gastrointestinal vasculature": "HP:0004296", + "Abnormality of the biliary system": "HP:0004297", + "Abnormality of the abdominal wall": "HP:0004298", + "Abnormality of external features of the abdomen": "HP:0004298", + "Hernia of the abdominal wall": "HP:0004299", + "Herniated abdominal wall": "HP:0004299", + "Functional motor deficit": "HP:0004302", + "Functional motor problems": "HP:0004302", + "Abnormal muscle fiber morphology": "HP:0004303", + "Abnormal muscle fibre morphology": "HP:0004303", + "Abnormal skeletal muscle fiber morphology": "HP:0004303", + "Abnormal skeletal muscle fibre morphology": "HP:0004303", + "Abnormality of muscle fibers": "HP:0004303", + "Abnormality of muscle fibres": "HP:0004303", + "Involuntary movements": "HP:0004305", + "Involuntary muscle contractions": "HP:0004305", + "Abnormal endocardium morphology": "HP:0004306", + "Abnormality of the endocardium": "HP:0004306", + "Abnormality of the endomycoardium": "HP:0004306", + "Abnormal anatomic location of the heart": "HP:0004307", + "Ventricular arrhythmia": "HP:0004308", + "Ventricular arrhythmias": "HP:0004308", + "Ventricular preexcitation": "HP:0004309", + "Pre-excitation syndrome": "HP:0004309", + "Preexcitation": "HP:0004309", + "Ventricular pre-excitation": "HP:0004309", + "Abnormal macrophage morphology": "HP:0004311", + "Abnormality of histiocytes": "HP:0004311", + "Abnormality of macrophages": "HP:0004311", + "Abnormal reticulocyte morphology": "HP:0004312", + "Abnormality of reticulocytes": "HP:0004312", + "Decreased circulating antibody concentration": "HP:0004313", + "Decreased antibody level in blood": "HP:0004313", + "Decreased circulating antibody level": "HP:0004313", + "Decreased immunoglobulin level": "HP:0004313", + "Decreased serum immunoglobulin": "HP:0004313", + "Hypogammaglobulinemia": "HP:0004313", + "Immunoglobulin deficiency": "HP:0004313", + "Reduced immunoglobulin levels": "HP:0004313", + "Decreased circulating IgG concentration": "HP:0004315", + "Decreased IgG level": "HP:0004315", + "Decreased IgG level in blood": "HP:0004315", + "Decreased circulating IgG level": "HP:0004315", + "Decreased gamma-globin expression": "HP:0004315", + "Decreased immunoglobulin G": "HP:0004315", + "Decreased serum IgG": "HP:0004315", + "IgG deficiency": "HP:0004315", + "Reduced IgG levels": "HP:0004315", + "Decreased circulating aldosterone concentration": "HP:0004319", + "Decreased aldosterone": "HP:0004319", + "Decreased aldosterone production": "HP:0004319", + "Decreased serum aldosterone": "HP:0004319", + "Hypoaldosteronism": "HP:0004319", + "Low blood aldosterone level": "HP:0004319", + "Mineralocorticoid insufficiency": "HP:0004319", + "Vaginal fistula": "HP:0004320", + "Bladder fistula": "HP:0004321", + "Short stature": "HP:0004322", + "Decreased body height": "HP:0004322", + "Height less than 3rd percentile": "HP:0004322", + "Small stature": "HP:0004322", + "Stature below 3rd percentile": "HP:0004322", + "Abnormality of body weight": "HP:0004323", + "Abnormality of habitus": "HP:0004323", + "Increased body weight": "HP:0004324", + "Weight gain": "HP:0004324", + "Decreased body weight": "HP:0004325", + "Decreased weight": "HP:0004325", + "Low body weight": "HP:0004325", + "Low weight": "HP:0004325", + "Weight less than 3rd percentile": "HP:0004325", + "Cachexia": "HP:0004326", + "Wasting syndrome": "HP:0004326", + "Abnormal vitreous humor morphology": "HP:0004327", + "Abnormal vitreous humour morphology": "HP:0004327", + "Abnormal anterior eye segment morphology": "HP:0004328", + "Abnormal anterior segment morphology": "HP:0004328", + "Abnormality of the anterior segment of the eye": "HP:0004328", + "Abnormality of the anterior segment of the eyeball": "HP:0004328", + "Abnormality of the anterior segment of the globe": "HP:0004328", + "Abnormal posterior eye segment morphology": "HP:0004329", + "Abnormal morphology of the posterior segment of the globe": "HP:0004329", + "Abnormality of the posterior segment of the eye": "HP:0004329", + "Abnormality of the posterior segment of the eyeball": "HP:0004329", + "Abnormality of the posterior segment of the globe": "HP:0004329", + "Increased skull ossification": "HP:0004330", + "Hyperossification of skull": "HP:0004330", + "Hyperostosis of skull": "HP:0004330", + "Sclerosis of bones of skull": "HP:0004330", + "Sclerosis of skull": "HP:0004330", + "Increased Mineralization of skull": "HP:0004330", + "Increased calcification of skull": "HP:0004330", + "Decreased skull ossification": "HP:0004331", + "Decreased bone formation of skull": "HP:0004331", + "Deficient skull ossification": "HP:0004331", + "Hypoossification of skull": "HP:0004331", + "Ossification defect of skull": "HP:0004331", + "Poorly mineralized skull": "HP:0004331", + "Poorly ossified skull": "HP:0004331", + "Poorly ossified skull bones": "HP:0004331", + "Decreased calcification of skull": "HP:0004331", + "Decreased mineralization of skull": "HP:0004331", + "Abnormal lymphocyte morphology": "HP:0004332", + "Abnormal lymphocytes": "HP:0004332", + "Abnormality of cells of the lymphoid lineage": "HP:0004332", + "Bone-marrow foam cells": "HP:0004333", + "Bone marrow foam cells": "HP:0004333", + "Large vacuolated foam cells ('NP cells') on bone marrow biopsy": "HP:0004333", + "Large vacuolated foam cells on bone marrow biopsy": "HP:0004333", + "Dermal atrophy": "HP:0004334", + "Atrophic skin": "HP:0004334", + "Skin atrophy": "HP:0004334", + "Skin degeneration": "HP:0004334", + "Myelin outfoldings": "HP:0004336", + "Excessive focal folding of myelin sheaths": "HP:0004336", + "Irregular myelin foldings": "HP:0004336", + "Abnormality of amino acid metabolism": "HP:0004337", + "Amino acid levels abnormal": "HP:0004337", + "Abnormal circulating aromatic amino acid concentration": "HP:0004338", + "Abnormality of aromatic amino acid family metabolism": "HP:0004338", + "Abnormal circulating sulfur amino acid concentration": "HP:0004339", + "Abnormal circulating sulphur amino acid concentration": "HP:0004339", + "Abnormality of sulfur-containing amino acids": "HP:0004339", + "Abnormality of vitamin B metabolism": "HP:0004340", + "Abnormality of B-vitamin metabolism": "HP:0004340", + "Abnormality of vitamin B12 metabolism": "HP:0004341", + "Abnormality of the vitamin B12 metabolism": "HP:0004341", + "Abnormal galactosidase enyzme activity": "HP:0004342", + "Abnormality of galactoside metabolism": "HP:0004342", + "Abnormal glycosphingolipid metabolism": "HP:0004343", + "Abnormality of glycosphingolipid metabolism": "HP:0004343", + "Abnormality of cerebrosidase metabolism": "HP:0004344", + "Ganglioside accumulation": "HP:0004345", + "Weakness of muscles of respiration": "HP:0004347", + "Abnormality of bone mineral density": "HP:0004348", + "Abnormality of bone mineralisation and ossification": "HP:0004348", + "Reduced bone mineral density": "HP:0004349", + "Decreased bone mineral density": "HP:0004349", + "Decreased bone mineral density Z score": "HP:0004349", + "Low solidness and mass of the bones": "HP:0004349", + "Abnormal circulating purine concentration": "HP:0004352", + "Abnormal circulating purine level": "HP:0004352", + "Abnormal circulating pyrimidine concentration": "HP:0004353", + "Abnormal circulating carboxylic acid concentration": "HP:0004354", + "obsolete Abnormality of proteoglycan metabolism": "HP:0004355", + "Abnormality of lysosomal metabolism": "HP:0004356", + "Abnormal circulating leucine concentration": "HP:0004357", + "Abnormality of superoxide metabolism": "HP:0004358", + "Abnormal circulating fatty-acid concentration": "HP:0004359", + "Abnormality of fatty acid metabolism": "HP:0004359", + "Fatty acids abnormal": "HP:0004359", + "Abnormality of acid-base homeostasis": "HP:0004360", + "Acid base imbalance": "HP:0004360", + "Abnormal circulating leptin concentration": "HP:0004361", + "Abnormality of circulating leptin level": "HP:0004361", + "Abnormal enteric ganglion morphology": "HP:0004362", + "Abnormality of enteric ganglion morphology": "HP:0004362", + "Abnormality of the enteric ganglia": "HP:0004362", + "Abnormal circulating calcium concentration": "HP:0004363", + "Abnormal blood calcium concentration": "HP:0004363", + "Abnormal blood calcium levels": "HP:0004363", + "Abnormal circulating Ca concentration": "HP:0004363", + "Abnormal circulating Ca2+ concentration": "HP:0004363", + "Abnormal circulating nitrogen compound concentration": "HP:0004364", + "Abnormal circulating tryptophan concentration": "HP:0004365", + "Abnormality of tryptophan metabolism": "HP:0004365", + "obsolete Abnormality of glycolysis": "HP:0004366", + "obsolete Abnormality of glycoprotein metabolism": "HP:0004367", + "Increased circulating purine concentration": "HP:0004368", + "Increased purine level": "HP:0004368", + "Increased purine levels": "HP:0004368", + "Decreased circulating purine concentration": "HP:0004369", + "Decreased purine level": "HP:0004369", + "Decreased purine levels": "HP:0004369", + "Abnormality of temperature regulation": "HP:0004370", + "Impaired temperature control": "HP:0004370", + "Impaired temperature regulation": "HP:0004370", + "Inability to control temperature": "HP:0004370", + "Inability to regulate temperature": "HP:0004370", + "Poor control of temperature": "HP:0004370", + "Poor regulation of temperature": "HP:0004370", + "Poor temperature control": "HP:0004370", + "Poor temperature regulation": "HP:0004370", + "Unable to control temperature": "HP:0004370", + "Body temperature changes": "HP:0004370", + "Abnormality of glycosaminoglycan metabolism": "HP:0004371", + "Reduced consciousness": "HP:0004372", + "Disturbances of consciousness": "HP:0004372", + "Lowered consciousness": "HP:0004372", + "Reduced consciousness/confusion": "HP:0004372", + "Focal dystonia": "HP:0004373", + "Hemiplegia/hemiparesis": "HP:0004374", + "Paralysis or weakness of one side of body": "HP:0004374", + "Neoplasm of the nervous system": "HP:0004375", + "Tumor of the nervous system": "HP:0004375", + "Tumour of the nervous system": "HP:0004375", + "Neoplasia of the nervous system": "HP:0004375", + "Nervous system cancer": "HP:0004375", + "Neuroblastic tumor": "HP:0004376", + "Neuroblastic tumour": "HP:0004376", + "Hematological neoplasm": "HP:0004377", + "Blood tumor": "HP:0004377", + "Blood tumour": "HP:0004377", + "Haematological neoplasm": "HP:0004377", + "Abnormality of the anus": "HP:0004378", + "Abnormality of alkaline phosphatase level": "HP:0004379", + "Abnormality of ALP level": "HP:0004379", + "Abnormality of alkaline phosphatase activity": "HP:0004379", + "Alkaline phosphatase abnormal": "HP:0004379", + "Aortic valve calcification": "HP:0004380", + "Supravalvular aortic stenosis": "HP:0004381", + "Mitral valve calcification": "HP:0004382", + "Hypoplastic left heart": "HP:0004383", + "Heart left ventricle hypoplasia": "HP:0004383", + "Left ventricular hypoplasia": "HP:0004383", + "Underdeveloped left heart": "HP:0004383", + "Type I truncus arteriosus": "HP:0004384", + "Persistent truncus arteriosus type I": "HP:0004384", + "Type 1 truncus arteriosus": "HP:0004384", + "Protracted diarrhea": "HP:0004385", + "Protracted diarrhoea": "HP:0004385", + "Gastrointestinal inflammation": "HP:0004386", + "GI inflammation": "HP:0004386", + "Enterocolitis": "HP:0004387", + "Microcolon": "HP:0004388", + "Microcolon on contrast enema": "HP:0004388", + "Intestinal pseudo-obstruction": "HP:0004389", + "Intestinal pseudoobstruction": "HP:0004389", + "Hamartomatous polyposis": "HP:0004390", + "Gastrointestinal hamartoma": "HP:0004390", + "Hamartomatous polyps": "HP:0004390", + "Gastrointestinal hamartomatous polyps": "HP:0004390", + "Prune belly": "HP:0004392", + "Multiple gastric polyps": "HP:0004394", + "Malnutrition": "HP:0004395", + "Poor appetite": "HP:0004396", + "Decreased appetite": "HP:0004396", + "Loss of appetite": "HP:0004396", + "No appetite": "HP:0004396", + "Ectopic anus": "HP:0004397", + "Abnormal anus position": "HP:0004397", + "Anus malposition": "HP:0004397", + "Peptic ulcer": "HP:0004398", + "Sore in the lining of gastrointestinal tract": "HP:0004398", + "Congenital pyloric atresia": "HP:0004399", + "Abnormality of the pylorus": "HP:0004400", + "Meconium ileus": "HP:0004401", + "Meconium ileus in neonates": "HP:0004401", + "Distal intestinal obstruction syndrome": "HP:0004401", + "Meconium ileus on ultrasonography": "HP:0004401", + "Proximal esophageal atresia": "HP:0004403", + "Abnormal nipple morphology": "HP:0004404", + "Abnormality of the nipple": "HP:0004404", + "Prominent nipples": "HP:0004405", + "Spontaneous, recurrent epistaxis": "HP:0004406", + "Recurrent epistaxes": "HP:0004406", + "Recurrent epistaxis": "HP:0004406", + "Recurring nosebleed": "HP:0004406", + "Spontaneous, recurrent nosebleed": "HP:0004406", + "Bony paranasal bossing": "HP:0004407", + "Abnormality of the sense of smell": "HP:0004408", + "Abnormal sense of smell": "HP:0004408", + "Abnormality of olfaction": "HP:0004408", + "Smell defect": "HP:0004408", + "Hyposmia": "HP:0004409", + "Decreased smell sensation": "HP:0004409", + "Sense of smell impaired": "HP:0004409", + "Deviated nasal septum": "HP:0004411", + "Crooked nasal septum": "HP:0004411", + "Crooked septum of nose": "HP:0004411", + "Deviated septum of nose": "HP:0004411", + "Abnormality of the pulmonary artery": "HP:0004414", + "Abnormality of lung artery": "HP:0004414", + "Pulmonary artery stenosis": "HP:0004415", + "Narrowing of lung artery": "HP:0004415", + "Precocious atherosclerosis": "HP:0004416", + "Premature plaque build-up in arteries": "HP:0004416", + "Premature atherosclerosis": "HP:0004416", + "Intermittent claudication": "HP:0004417", + "Thrombophlebitis": "HP:0004418", + "Recurrent thrombophlebitis": "HP:0004419", + "Recurrent phlebitis": "HP:0004419", + "Recurrent thrombosis": "HP:0004419", + "Arterial thrombosis": "HP:0004420", + "Blood clot in artery": "HP:0004420", + "Elevated systolic blood pressure": "HP:0004421", + "Elevated systolic BP": "HP:0004421", + "Biparietal narrowing": "HP:0004422", + "Decreased width of the skull": "HP:0004422", + "Cranium bifidum occultum": "HP:0004423", + "Flat forehead": "HP:0004425", + "Flattened forehead": "HP:0004425", + "Frontal flattening": "HP:0004425", + "Abnormal cheek morphology": "HP:0004426", + "Abnormality of the cheek": "HP:0004426", + "Abnormality of the cheeks": "HP:0004426", + "Anomaly of the cheeks": "HP:0004426", + "Deformity of the cheeks": "HP:0004426", + "Malformation of the cheeks": "HP:0004426", + "Elfin facies": "HP:0004428", + "Elf-like facial appearance": "HP:0004428", + "Elf-like facial features": "HP:0004428", + "Leprechaun facies": "HP:0004428", + "Recurrent viral infections": "HP:0004429", + "Severe combined immunodeficiency": "HP:0004430", + "Immunodeficiency, severe combined": "HP:0004430", + "Reduced circulating complement concentration": "HP:0004431", + "Complement deficiency": "HP:0004431", + "Agammaglobulinemia": "HP:0004432", + "Agammaglobulinaemia": "HP:0004432", + "Secretory IgA deficiency": "HP:0004433", + "Decreased circulating complement C8 concentration": "HP:0004434", + "C8 deficiency": "HP:0004434", + "Decreased serum complement C8": "HP:0004434", + "Cranial hyperostosis": "HP:0004437", + "Enlargement of skull bones": "HP:0004437", + "Excessive growth of skull bones": "HP:0004437", + "Hypertrophy of cranial bones": "HP:0004437", + "Overgrowth of skull bones": "HP:0004437", + "Thick skull bones": "HP:0004437", + "Hyperostosis of cranial bones": "HP:0004437", + "Hyperostosis of cranial vault": "HP:0004437", + "Increased ossification of cranial bones": "HP:0004437", + "Hyperostosis frontalis interna": "HP:0004438", + "Enlargement of the inner surface of the frontal bone": "HP:0004438", + "Hypertrophy of the internal surface of the frontal bone": "HP:0004438", + "Increased ossification of the internal surface of the frontal bone": "HP:0004438", + "Overgrowth of the inside of the frontal bone": "HP:0004438", + "Thick inner surface of the frontal bone": "HP:0004438", + "Thick internal surface of the frontal bone": "HP:0004438", + "Excessive growth of inner surface of the frontal bone": "HP:0004438", + "Hyperostosis of the internal surface of the frontal bone": "HP:0004438", + "Overgrowth of the inner surface of the frontal bone": "HP:0004438", + "Craniofacial dysostosis": "HP:0004439", + "Crouzon syndrome": "HP:0004439", + "Coronal craniosynostosis": "HP:0004440", + "Coronal suture craniosynostosis": "HP:0004440", + "Coronal suture synostosis": "HP:0004440", + "Craniosynostosis of coronal suture": "HP:0004440", + "Sagittal craniosynostosis": "HP:0004442", + "Craniosynostosis, sagittal": "HP:0004442", + "Craniosynostosis, sagittal suture": "HP:0004442", + "Early closure of midline skull joint": "HP:0004442", + "Midline skull joint closes early": "HP:0004442", + "Sagittal suture synostosis": "HP:0004442", + "Lambdoidal craniosynostosis": "HP:0004443", + "Lambdoid suture craniosynostosis": "HP:0004443", + "Lambdoid suture synostosis": "HP:0004443", + "Spherocytosis": "HP:0004444", + "Elliptocytosis": "HP:0004445", + "Ovalocytes": "HP:0004445", + "Ovalocytosis": "HP:0004445", + "Elliptocyte": "HP:0004445", + "Hereditary elliptocytosis": "HP:0004445", + "Stomatocytosis": "HP:0004446", + "Red cell stomatocytosis": "HP:0004446", + "erythrocyte stomatocytes": "HP:0004446", + "Poikilocytosis": "HP:0004447", + "Fulminant hepatic failure": "HP:0004448", + "Preauricular skin furrow": "HP:0004450", + "Preauricular skin furrows": "HP:0004450", + "Preauricular skin groove": "HP:0004450", + "Preauricular skin sulcus": "HP:0004450", + "Skin groove in front of the ear": "HP:0004450", + "Skin sulcus in front of the ear": "HP:0004450", + "Postauricular skin tag": "HP:0004451", + "Postauricular acrochordon": "HP:0004451", + "Postauricular fibroepithelial polyp": "HP:0004451", + "Skin tag behind the ear": "HP:0004451", + "Abnormality of the middle ear ossicles": "HP:0004452", + "Malformed ossicles": "HP:0004452", + "Ossicular malformation": "HP:0004452", + "Overfolding of the superior helices": "HP:0004453", + "Overfolding of superior helix": "HP:0004453", + "Abnormal middle ear reflexes": "HP:0004454", + "Dilatated internal auditory canal": "HP:0004458", + "Bulbous internal auditory canal": "HP:0004458", + "Enlarged internal auditory canal": "HP:0004458", + "Exostosis of the external auditory canal": "HP:0004459", + "External auditory canal exostoses": "HP:0004459", + "Congenital earlobe sinuses": "HP:0004461", + "Absent brainstem auditory responses": "HP:0004463", + "No auditory brainstem response": "HP:0004463", + "Postauricular pit": "HP:0004464", + "Pit behind the ear": "HP:0004464", + "Postauricular earpits": "HP:0004464", + "Postauricular fistula": "HP:0004464", + "Posterior auricular pit": "HP:0004464", + "Posterior auricular sinus": "HP:0004464", + "Delayed brainstem auditory evoked response conduction time": "HP:0004466", + "Preauricular pit": "HP:0004467", + "Ear pit": "HP:0004467", + "Pit in front of the ear": "HP:0004467", + "Preauricular earpits": "HP:0004467", + "Preauricular fistulas": "HP:0004467", + "Preauricular pits": "HP:0004467", + "Preauricular sinus": "HP:0004467", + "Anomalous tracheal cartilage": "HP:0004468", + "Abnormal tracheal cartilaginous ring": "HP:0004468", + "Chronic bronchitis": "HP:0004469", + "Atretic occipital cephalocele": "HP:0004470", + "Aplasia cutis congenita over the scalp vertex": "HP:0004471", + "Absent cutis congenita of vertex": "HP:0004471", + "Aplasia cutis congenita of vertex": "HP:0004471", + "Mandibular hyperostosis": "HP:0004472", + "Excessive growth of mandibular bone": "HP:0004472", + "Overgrowth of mandibular bone": "HP:0004472", + "Thick lower jaw bone": "HP:0004472", + "Thick mandibular bone": "HP:0004472", + "Hyperostosis of lower jaw": "HP:0004472", + "Hyperostosis of mandibular bone": "HP:0004472", + "Increased ossification of mandibular bone": "HP:0004472", + "Increased ossification of lower jaw": "HP:0004472", + "Increased ossification of mandible": "HP:0004472", + "Persistent open anterior fontanelle": "HP:0004474", + "Front fontanelle stays open": "HP:0004474", + "Persistent, open anterior fontanel": "HP:0004474", + "Anterior fontanelle open in adults": "HP:0004474", + "Aplasia cutis congenita over parietal area": "HP:0004476", + "Absent cutis congenita over parietal area": "HP:0004476", + "obsolete Ethmoidal encephalocele": "HP:0004478", + "Progressive macrocephaly": "HP:0004481", + "Macrocephaly, progressive": "HP:0004481", + "Progressively abnormally enlarging cranium": "HP:0004481", + "Progressively abnormally enlarging skull": "HP:0004481", + "Relative macrocephaly": "HP:0004482", + "Disproportionately large head": "HP:0004482", + "Macrocephaly, relative": "HP:0004482", + "Relatively large head": "HP:0004482", + "Craniofacial asymmetry": "HP:0004484", + "Uneven craniofacial structures": "HP:0004484", + "Abnormality of craniofacial shape": "HP:0004484", + "Malformation of craniofacial shape": "HP:0004484", + "Cessation of head growth": "HP:0004485", + "Skull stopped growing": "HP:0004485", + "Cranium stopped growing": "HP:0004485", + "Head stopped growing": "HP:0004485", + "Acrobrachycephaly": "HP:0004487", + "Macrocephaly at birth": "HP:0004488", + "Big head present at birth": "HP:0004488", + "Big head present since birth": "HP:0004488", + "Congenital large head": "HP:0004488", + "Large head present at birth": "HP:0004488", + "Large head present since birth": "HP:0004488", + "Big cranium present at birth": "HP:0004488", + "Big cranium present since birth": "HP:0004488", + "Big skull present at birth": "HP:0004488", + "Big skull present since birth": "HP:0004488", + "Congenital large cranium": "HP:0004488", + "Congenital large skull": "HP:0004488", + "Congenital macrocephaly": "HP:0004488", + "Head circumference large for gestational age": "HP:0004488", + "Large cranium present at birth": "HP:0004488", + "Large cranium present since birth": "HP:0004488", + "Large skull present at birth": "HP:0004488", + "Large skull present since birth": "HP:0004488", + "Calvarial hyperostosis": "HP:0004490", + "Enlargement of calvarial bones": "HP:0004490", + "Excessive growth of calvarial bones": "HP:0004490", + "Hypertrophy of calvarial bones": "HP:0004490", + "Overgrowth of calvarial bones": "HP:0004490", + "Thick calvarial bones": "HP:0004490", + "Hyperostosis of calvarial bones": "HP:0004490", + "Increased ossification of calvarial bones": "HP:0004490", + "Overgrowth of skullcap": "HP:0004490", + "Large posterior fontanelle": "HP:0004491", + "Large posterior fontanel": "HP:0004491", + "Widely patent fontanelles and sutures": "HP:0004492", + "Widely patent fontanels and sutures": "HP:0004492", + "Craniofacial hyperostosis": "HP:0004493", + "Enlargement of craniofacial bones": "HP:0004493", + "Excessive growth of craniofacial bones": "HP:0004493", + "Hypertrophy of craniofacial bones": "HP:0004493", + "Overgrowth of craniofacial bones": "HP:0004493", + "Thick craniofacial bones": "HP:0004493", + "Excessive bone growth of the skull and face": "HP:0004493", + "Hyperostosis of craniofacial bones": "HP:0004493", + "Increased ossification of craniofacial bones": "HP:0004493", + "obsolete Thin anteverted nares": "HP:0004495", + "obsolete Posterior choanal atresia": "HP:0004496", + "Chronic rhinitis due to narrow nasal airway": "HP:0004499", + "Chronic nasal inflammation due to narrow nasal airway": "HP:0004499", + "Bilateral choanal atresia": "HP:0004502", + "Bilateral blockage of the rear opening of the nasal cavity": "HP:0004502", + "Bilateral obstruction of the rear opening of the nasal cavity": "HP:0004502", + "Pancreatic islet-cell hyperplasia": "HP:0004510", + "Hyperplastic islets of langerhans": "HP:0004510", + "Hypertrophic pancreatic islets": "HP:0004510", + "Islet of Langerhans hyperplasia": "HP:0004510", + "Islets of langerhans hypertrophy": "HP:0004510", + "Pancreatic islet-cell hypertrophy": "HP:0004510", + "Long eyebrows": "HP:0004523", + "Elongated eyebrow": "HP:0004523", + "Increased horizontal length of eyebrow": "HP:0004523", + "Increased transverse length of eyebrow": "HP:0004523", + "Temporal hypotrichosis": "HP:0004524", + "Reduced hair growth in temporal region": "HP:0004524", + "Large clumps of pigment irregularly distributed along hair shaft": "HP:0004527", + "Generalized hypotrichosis": "HP:0004528", + "Generalised hypotrichosis": "HP:0004528", + "Hypotrichosis, generalised": "HP:0004528", + "Hypotrichosis, generalized": "HP:0004528", + "Atrophic, patchy alopecia": "HP:0004529", + "Sacral hypertrichosis": "HP:0004532", + "Anterior cervical hypertrichosis": "HP:0004535", + "Congenital cervical hypertrichosis": "HP:0004535", + "Hypertrichosis, congenital anterior cervical": "HP:0004535", + "Congenital, generalized hypertrichosis": "HP:0004540", + "Congenital generalised hypertrichosis": "HP:0004540", + "Congenital generalized hypertrichosis": "HP:0004540", + "Congenital, generalised hypertrichosis": "HP:0004540", + "Hypertrichosis universalis": "HP:0004540", + "obsolete Pointed frontal hairline": "HP:0004544", + "Scarring alopecia of scalp": "HP:0004552", + "Cicatricial alopecia": "HP:0004552", + "Hair loss on scalp from scarring condition": "HP:0004552", + "Generalized hypertrichosis": "HP:0004554", + "Generalised hypertrichosis": "HP:0004554", + "Anterior vertebral fusion": "HP:0004557", + "Cervical platyspondyly": "HP:0004558", + "Flattened cervical vertebral bodies": "HP:0004558", + "Beaking of vertebral bodies T12-L3": "HP:0004562", + "Increased spinal bone density": "HP:0004563", + "Increased density of spinal bone": "HP:0004563", + "Ivory spinal bone": "HP:0004563", + "Compact spinal bone": "HP:0004563", + "Concrete spinal bone": "HP:0004563", + "Dense spinal bone": "HP:0004563", + "Eburnation of spinal bone": "HP:0004563", + "Increased spinal bone density Z-score": "HP:0004563", + "Sclerosis of spinal bone": "HP:0004563", + "Severe platyspondyly": "HP:0004565", + "platyspondyly, extreme": "HP:0004565", + "Pear-shaped vertebrae": "HP:0004566", + "Pear-shaped vertebral bodies": "HP:0004566", + "Beaking of vertebral bodies": "HP:0004568", + "Anterior beaking of vertebrae": "HP:0004568", + "Anterior beaking of vertebral bodies": "HP:0004568", + "Beaked vertebral bodies": "HP:0004568", + "Vertebral tongue-like protrusion": "HP:0004568", + "anterior beaking": "HP:0004568", + "Increased vertebral height": "HP:0004570", + "Tall vertebral bodies": "HP:0004570", + "Widening of cervical spinal canal": "HP:0004571", + "Anterior wedging of T11": "HP:0004573", + "Anterior wedging of the 11th thoracic vertebra": "HP:0004573", + "Wedge-shaped 11th thoracic vertebra": "HP:0004573", + "Fusion of midcervical facet joints": "HP:0004575", + "Sclerotic vertebral endplates": "HP:0004576", + "Endplate sclerosis": "HP:0004576", + "Anterior scalloping of vertebral bodies": "HP:0004580", + "Anterior scalloping vertebral bodies": "HP:0004580", + "Increased anterior vertebral height": "HP:0004581", + "Irregularity of vertebral bodies": "HP:0004582", + "Biconcave vertebral bodies": "HP:0004586", + "Biconcave 'codfish' vertebrae": "HP:0004586", + "Biconcave vertebrae": "HP:0004586", + "Codfish vertebrae": "HP:0004586", + "Fish vertebrae": "HP:0004586", + "Scalloping of vertebral bodies": "HP:0004586", + "Dysplasia of second lumbar vertebra": "HP:0004589", + "Hypoplastic sacrum": "HP:0004590", + "Small sacrum": "HP:0004590", + "Disc-like vertebral bodies": "HP:0004591", + "Thoracic platyspondyly": "HP:0004592", + "Hump-shaped mound of bone in central and posterior portions of vertebral endplate": "HP:0004594", + "Supernumerary vertebral ossification centers": "HP:0004598", + "Supernumerary vertebral ossification centres": "HP:0004598", + "Absent or minimally ossified vertebral bodies": "HP:0004599", + "Spina bifida occulta at L5": "HP:0004601", + "Cervical C2/C3 vertebral fusion": "HP:0004602", + "Fusion of cervical vertebrae c2-3": "HP:0004602", + "Klippel-Feil anomaly": "HP:0004602", + "Klippel-Feil syndrome": "HP:0004602", + "Hyperconvex vertebral body endplates": "HP:0004603", + "Absent vertebral body mineralization": "HP:0004605", + "Unossified vertebral bodies": "HP:0004606", + "Anterior beaking of lower thoracic vertebrae": "HP:0004607", + "Anteriorly placed odontoid process": "HP:0004608", + "Patchy distortion of vertebrae": "HP:0004609", + "Lumbar spinal canal stenosis": "HP:0004610", + "Lumbar spinal stenosis": "HP:0004610", + "Narrow lumbar spinal canal": "HP:0004610", + "Anterior concavity of thoracic vertebrae": "HP:0004611", + "Anteriorly concave vertebrae": "HP:0004611", + "Spina bifida occulta at S1": "HP:0004614", + "Cleft vertebral arch": "HP:0004616", + "Cleft vertebral arches": "HP:0004616", + "Butterfly vertebral arch": "HP:0004617", + "Sandwich appearance of vertebral bodies": "HP:0004618", + "Lumbar kyphoscoliosis": "HP:0004619", + "Enlarged vertebral pedicles": "HP:0004621", + "Hyperplastic vertebral pedicles": "HP:0004621", + "Progressive intervertebral space narrowing": "HP:0004622", + "Biconvex vertebral bodies": "HP:0004625", + "Lumbar scoliosis": "HP:0004626", + "Small cervical vertebral bodies": "HP:0004629", + "Small cervical vertebrae": "HP:0004629", + "Anterior beaking of thoracic vertebrae": "HP:0004630", + "Decreased cervical spine flexion due to contractures of posterior cervical muscles": "HP:0004631", + "Inability to touch chin to chest": "HP:0004631", + "Contracture of post-cervical muscles": "HP:0004631", + "Cervical segmentation defect": "HP:0004632", + "Cervical spine segmentation defect": "HP:0004632", + "Lower thoracic kyphosis": "HP:0004633", + "Round mid-back": "HP:0004633", + "Cuboid-shaped vertebral bodies": "HP:0004634", + "Cuboid vertebral bodies": "HP:0004634", + "Cervical C5/C6 vertebrae fusion": "HP:0004635", + "Decreased cervical spine mobility": "HP:0004637", + "Limited neck movement": "HP:0004637", + "Elevated amniotic fluid alpha-fetoprotein": "HP:0004639", + "Elevated amniotic fluid alpha fetal protein": "HP:0004639", + "Elevated amniotic fluid alpha foetal protein": "HP:0004639", + "Elevated amniotic fluid alpha-1-fetoprotein": "HP:0004639", + "Elevated amniotic fluid alpha-fetoglobulin": "HP:0004639", + "Hypoplasia of the nasal bone": "HP:0004646", + "Small nasal bone": "HP:0004646", + "Decreased size of nasal bone": "HP:0004646", + "Deficiency of nasal bone": "HP:0004646", + "Nasal bone hypoplasia": "HP:0004646", + "Underdevelopment of nasal bone": "HP:0004646", + "Hypotrophic nasal bone": "HP:0004646", + "Hypoplasia of facial musculature": "HP:0004660", + "Small facial muscles": "HP:0004660", + "Decreased size of facial muscles": "HP:0004660", + "Deficiency of facial musculature": "HP:0004660", + "Underdevelopment of facial muscles": "HP:0004660", + "Atrophy of facial musculature": "HP:0004660", + "Hypotrophic facial musculature": "HP:0004660", + "Frontalis muscle weakness": "HP:0004661", + "Weak frontalis muscle": "HP:0004661", + "Weakness of forehead muscle": "HP:0004661", + "Facial midline hemangioma": "HP:0004664", + "Decreased facial expression": "HP:0004673", + "Prominent supraorbital arches in adult": "HP:0004676", + "Large tarsal bones": "HP:0004679", + "Large ankle bones": "HP:0004679", + "Deep longitudinal plantar crease": "HP:0004681", + "Foot crease": "HP:0004681", + "Longitudinal groove on soles": "HP:0004681", + "Talipes valgus": "HP:0004684", + "Short third metatarsal": "HP:0004686", + "Hypoplasia of the 3rd metatarsal bone": "HP:0004686", + "Short 3rd long bone of foot": "HP:0004686", + "Irregular tarsal bones": "HP:0004688", + "Abnormal shape of ankle bones": "HP:0004688", + "Short fourth metatarsal": "HP:0004689", + "Bilateral fourth metatarsal shortening": "HP:0004689", + "Short 4th long bone of foot": "HP:0004689", + "Short fourth metatarsus": "HP:0004689", + "Short fourth metatarsals": "HP:0004689", + "Thickened Achilles tendon": "HP:0004690", + "2-3 toe syndactyly": "HP:0004691", + "2-3 syndactyly of feet": "HP:0004691", + "2-3 toe soft tissue syndactyly": "HP:0004691", + "2-3 toes syndactyly": "HP:0004691", + "Syndactyly of second and third toes": "HP:0004691", + "Toe syndactyly, 2-3": "HP:0004691", + "Webbed 2nd and 3rd toes": "HP:0004691", + "partial or complete syndactyly 2nd-3rd toes": "HP:0004691", + "4-5 toe syndactyly": "HP:0004692", + "Symmetric syndactyly, toes 4 and 5": "HP:0004692", + "Syndactyly of toes 4 and 5": "HP:0004692", + "Webbed 4th-5th toes": "HP:0004692", + "Calcaneal epiphyseal stippling": "HP:0004695", + "Talipes cavus equinovarus": "HP:0004696", + "Osteoporotic metatarsal": "HP:0004699", + "Short fifth metatarsal": "HP:0004704", + "Hypoplasia of the fifth metatarsal bone": "HP:0004704", + "Short 5th long bone of foot": "HP:0004704", + "Renal malrotation": "HP:0004712", + "Abnormal rotation of the kidneys": "HP:0004712", + "Malrotation of the kidney": "HP:0004712", + "Reversible renal failure": "HP:0004713", + "Reversible kidney failure": "HP:0004713", + "Axial malrotation of the kidney": "HP:0004717", + "Hyperechogenic kidneys": "HP:0004719", + "Echogenic kidneys": "HP:0004719", + "Increased echogenicity of the renal parenchyma": "HP:0004719", + "Thickened glomerular basement membrane": "HP:0004722", + "Calcium nephrolithiasis": "HP:0004724", + "Ca kidney stone": "HP:0004724", + "Ca nephrolithiasis": "HP:0004724", + "Ca2+ kidney stone": "HP:0004724", + "Ca2+ nephrolithiasis": "HP:0004724", + "Calcium kidney stone": "HP:0004724", + "Impaired renal concentrating ability": "HP:0004727", + "Urine concentrating defect": "HP:0004727", + "Urine concentration defect": "HP:0004727", + "Acute tubulointerstitial nephritis": "HP:0004729", + "Impaired renal uric acid clearance": "HP:0004732", + "Uric acid fractional excretion decreased": "HP:0004732", + "Renal cortical microcysts": "HP:0004734", + "Cortical microcysts": "HP:0004734", + "Multiple renal cortical microcysts": "HP:0004734", + "Multiple small renal cortical cysts": "HP:0004734", + "Crossed fused renal ectopia": "HP:0004736", + "Crossed-fused renal ectopia": "HP:0004736", + "Ectopic kidney with fusion": "HP:0004736", + "Global glomerulosclerosis": "HP:0004737", + "Abnormal renal collecting system morphology": "HP:0004742", + "Abnormal collecting system": "HP:0004742", + "Abnormality of the renal collecting system": "HP:0004742", + "Renal collecting system anomalies": "HP:0004742", + "Chronic tubulointerstitial nephritis": "HP:0004743", + "Glomerular subendothelial electron-dense deposits": "HP:0004746", + "Dense deposit disease": "HP:0004746", + "Membranoproliferative glomerulonephritis type II": "HP:0004746", + "Atrial flutter": "HP:0004749", + "Paroxysmal ventricular tachycardia": "HP:0004751", + "Episodes of ventricular tachycardia": "HP:0004751", + "Congenital atrioventricular dissociation": "HP:0004752", + "Permanent atrial fibrillation": "HP:0004754", + "Chronic atrial fibrillation": "HP:0004754", + "Supraventricular tachycardia": "HP:0004755", + "SVT": "HP:0004755", + "Supraventricular tachyarrhythmia": "HP:0004755", + "Ventricular tachycardia": "HP:0004756", + "Paroxysmal atrial fibrillation": "HP:0004757", + "Atrial fibrillation, paroxysmal": "HP:0004757", + "Intermittent atrial fibrillation": "HP:0004757", + "Paroxysmal AF": "HP:0004757", + "Effort-induced polymorphic ventricular tachycardia": "HP:0004758", + "Catecholaminergic polymorphic ventricular tachycardia": "HP:0004758", + "Exercise-induced polymorphic ventricular tachycardia": "HP:0004758", + "obsolete Nodular calcific aortic valve disease": "HP:0004759", + "obsolete Congenital septal defect": "HP:0004760", + "Post-angioplasty coronary artery restenosis": "HP:0004761", + "Hypoplasia of right ventricle": "HP:0004762", + "Heart right ventricle hypoplasia": "HP:0004762", + "Small right heart chamber": "HP:0004762", + "Underdeveloped right heart chamber": "HP:0004762", + "Paroxysmal supraventricular tachycardia": "HP:0004763", + "Episodic rapid heart beat": "HP:0004763", + "Episodic supraventricular tachycardia": "HP:0004763", + "PSVT": "HP:0004763", + "Myxomatous mitral valve degeneration": "HP:0004764", + "Sparse anterior scalp hair": "HP:0004768", + "Sparse scalp hair at front of head": "HP:0004768", + "Thin scalp hair at front of head": "HP:0004768", + "Premature graying of body hair": "HP:0004771", + "Premature greying of body hair": "HP:0004771", + "Brittle scalp hair": "HP:0004779", + "Elbow hypertrichosis": "HP:0004780", + "Hairy elbow": "HP:0004780", + "Hairy elbow syndrome": "HP:0004780", + "Hypertrichosis cubiti": "HP:0004780", + "Pilosity of elbow": "HP:0004780", + "obsolete Hypotrichosis of the scalp": "HP:0004782", + "Duodenal polyposis": "HP:0004783", + "Multiple duodenal polyps": "HP:0004783", + "Juvenile gastrointestinal polyposis": "HP:0004784", + "Juvenile GI polyposis": "HP:0004784", + "Malrotation of colon": "HP:0004785", + "Jejunal diverticula": "HP:0004786", + "Fulminant hepatitis": "HP:0004787", + "Intestinal lymphedema": "HP:0004788", + "Lactose intolerance": "HP:0004789", + "Milk intolerance": "HP:0004789", + "Hypoplasia of the small intestine": "HP:0004790", + "Underdeveloped small intestine": "HP:0004790", + "Esophageal ulceration": "HP:0004791", + "Esophagus ulcer": "HP:0004791", + "Oesophagus ulcer": "HP:0004791", + "Oesophagus ulceration": "HP:0004791", + "Rectoperineal fistula": "HP:0004792", + "Malrotation of small bowel": "HP:0004794", + "Malrotation of the small intestine": "HP:0004794", + "Hamartomatous stomach polyps": "HP:0004795", + "Gastrointestinal obstruction": "HP:0004796", + "GI obstruction": "HP:0004796", + "Obstruction in digestive tract": "HP:0004796", + "Multiple small bowel atresias": "HP:0004797", + "Recurrent infection of the gastrointestinal tract": "HP:0004798", + "Recurrent gastrointestinal infections": "HP:0004798", + "Recurrent infection of the GI tract": "HP:0004798", + "Gastrointestinal infections": "HP:0004798", + "Gastrointestinal infections, recurrent": "HP:0004798", + "Jejunoileal diverticula": "HP:0004799", + "Duodenal diverticula": "HP:0004800", + "Episodic hemolytic anemia": "HP:0004802", + "Episodic hemolysis": "HP:0004802", + "Episodic hemolytic anaemia": "HP:0004802", + "Congenital hemolytic anemia": "HP:0004804", + "Congenital haemolytic anaemia": "HP:0004804", + "Congenital haemolytic anemia": "HP:0004804", + "Congenital hemolytic anaemia": "HP:0004804", + "Neonatal hemolytic anaemia": "HP:0004804", + "Neonatal hemolytic anemia": "HP:0004804", + "Acute myeloid leukemia": "HP:0004808", + "AML": "HP:0004808", + "Acute myeloblastic leukaemia": "HP:0004808", + "Acute myeloblastic leukemia": "HP:0004808", + "Acute myelocytic leukaemia": "HP:0004808", + "Acute myelocytic leukemia": "HP:0004808", + "Acute myelogenous leukaemia": "HP:0004808", + "Acute myelogenous leukemia": "HP:0004808", + "Acute myeloid leukaemia": "HP:0004808", + "Neonatal alloimmune thrombocytopenia": "HP:0004809", + "Congenital hypoplastic anemia": "HP:0004810", + "Congenital dyserythropoietic anaemia": "HP:0004810", + "Congenital dyserythropoietic anemia": "HP:0004810", + "Congenital hypoplastic anaemia": "HP:0004810", + "B Acute Lymphoblastic Leukemia": "HP:0004812", + "B Acute Lymphoblastic Leukaemia": "HP:0004812", + "Pre-B-cell acute lymphoblastic leukaemia": "HP:0004812", + "Pre-B-cell acute lymphoblastic leukemia": "HP:0004812", + "Post-transfusion thrombocytopenia": "HP:0004813", + "Post-transfusion purpura": "HP:0004813", + "Fava bean-induced hemolytic anemia": "HP:0004814", + "Fava bean-induced hemolytic anaemia": "HP:0004814", + "Hemolytic anaemia following ingestion of fava beans": "HP:0004814", + "Hemolytic anemia following ingestion of fava beans": "HP:0004814", + "Drug-sensitive hemolytic anemia": "HP:0004817", + "Drug-sensitive hemolytic anaemia": "HP:0004817", + "Paroxysmal nocturnal hemoglobinuria": "HP:0004818", + "Paroxysmal nocturnal haemoglobinuria": "HP:0004818", + "Normocytic hypoplastic anemia": "HP:0004819", + "Normocytic hypoplastic anaemia": "HP:0004819", + "Acute myelomonocytic leukemia": "HP:0004820", + "Acute myelomonocytic leukaemia": "HP:0004820", + "Hypersegmentation of neutrophil nuclei": "HP:0004821", + "Hypermature neutrophils": "HP:0004821", + "Hypersegmentation of neutrophil nuclei in peripheral blood": "HP:0004821", + "Atypical elliptocytosis": "HP:0004822", + "Anisopoikilocytosis": "HP:0004823", + "Increased hemoglobin oxygen affinity": "HP:0004825", + "Increased Hb O2 affinity": "HP:0004825", + "Increased Hb oxygen affinity": "HP:0004825", + "Increased haemoglobin O2 affinity": "HP:0004825", + "Increased hemoglobin O2 affinity": "HP:0004825", + "Folate-unresponsive megaloblastic anemia": "HP:0004826", + "Folate-unresponsive megaloblastic anaemia": "HP:0004826", + "Refractory anemia with ringed sideroblasts": "HP:0004828", + "Myelodysplasia with sideroblastosis": "HP:0004828", + "Refractory anaemia with ringed sideroblasts": "HP:0004828", + "Recurrent thromboembolism": "HP:0004831", + "Recurrent thromboembolic disease": "HP:0004831", + "Microspherocytosis": "HP:0004835", + "Acute promyelocytic leukemia": "HP:0004836", + "Acute promyelocytic leukaemia": "HP:0004836", + "Pyropoikilocytosis": "HP:0004839", + "hereditary pyropoikilocytosis": "HP:0004839", + "Hypochromic microcytic anemia": "HP:0004840", + "Hypochromic microcytic anaemia": "HP:0004840", + "Hypochromic, microcytic anaemia": "HP:0004840", + "Hypochromic, microcytic anemia": "HP:0004840", + "Reduced factor XII activity": "HP:0004841", + "Factor XII deficiency": "HP:0004841", + "Hageman factor deficiency": "HP:0004841", + "Coombs-positive hemolytic anemia": "HP:0004844", + "Coombs-positive hemolytic anaemia": "HP:0004844", + "Direct Coombs positive": "HP:0004844", + "Acute monocytic leukemia": "HP:0004845", + "AML-M5": "HP:0004845", + "AMoL": "HP:0004845", + "Acute monoblastic leukaemia": "HP:0004845", + "Acute monoblastic leukemia": "HP:0004845", + "Acute monocytic leukaemia": "HP:0004845", + "Prolonged bleeding after surgery": "HP:0004846", + "Excessive bleeding during surgery": "HP:0004846", + "Protracted bleeding after surgery": "HP:0004846", + "Ph-positive acute lymphoblastic leukemia": "HP:0004848", + "Ph-positive acute lymphoblastic leukaemia": "HP:0004848", + "Philadelphia-positive acute lymphoblastic leukaemia": "HP:0004848", + "Philadelphia-positive acute lymphoblastic leukemia": "HP:0004848", + "Recurrent deep vein thrombosis": "HP:0004850", + "Recurrent deep vein blood clot": "HP:0004850", + "Recurrent venous thrombosis": "HP:0004850", + "Folate-responsive megaloblastic anemia": "HP:0004851", + "Folate-responsive megaloblastic anaemia": "HP:0004851", + "Reduced leukocyte alkaline phosphatase": "HP:0004852", + "Low leukocyte alkaline phosphatase": "HP:0004852", + "Reduced leukocyte ALP": "HP:0004852", + "Intermittent thrombocytopenia": "HP:0004854", + "Reduced protein S activity": "HP:0004855", + "Protein S deficiency": "HP:0004855", + "Normochromic microcytic anemia": "HP:0004856", + "Normochromic microcytic anaemia": "HP:0004856", + "Hyperchromic macrocytic anemia": "HP:0004857", + "Hyperchromic macrocytic anaemia": "HP:0004857", + "Amegakaryocytic thrombocytopenia": "HP:0004859", + "Thiamine-responsive megaloblastic anemia": "HP:0004860", + "Thiamine-responsive megaloblastic anaemia": "HP:0004860", + "Refractory macrocytic anemia": "HP:0004861", + "Refractory macrocytic anaemia": "HP:0004861", + "Compensated hemolytic anemia": "HP:0004863", + "Compensated hemolytic anaemia": "HP:0004863", + "Elevated bone marrow ring sideroblast count": "HP:0004864", + "Refractory sideroblastic anaemia": "HP:0004864", + "Impaired ADP-induced platelet aggregation": "HP:0004866", + "Chronic hemolytic anemia": "HP:0004870", + "Chronic hemolytic anaemia": "HP:0004870", + "hemolytic anemia, chronic": "HP:0004870", + "Perineal fistula": "HP:0004871", + "Incisional hernia": "HP:0004872", + "Recurrent abdominal hernia": "HP:0004872", + "Neonatal inspiratory stridor": "HP:0004875", + "Spontaneous neonatal pneumothorax": "HP:0004876", + "Neonatal pneumothorax": "HP:0004876", + "Intercostal muscle weakness": "HP:0004878", + "Muscle weakness between ribs": "HP:0004878", + "Dependence on diaphragmatic breathing": "HP:0004878", + "Intermittent hyperventilation": "HP:0004879", + "Episodic hyperventilation": "HP:0004879", + "Intermittent overbreathing": "HP:0004879", + "Respiratory infections in early life": "HP:0004880", + "Episodic hypoventilation": "HP:0004881", + "Episodic slow breathing": "HP:0004881", + "Episodic under breathing": "HP:0004881", + "Episodic respiratory distress": "HP:0004885", + "Episodic difficulty breathing": "HP:0004885", + "respiratory distress, episodic": "HP:0004885", + "Congenital laryngeal stridor": "HP:0004886", + "Respiratory failure requiring assisted ventilation": "HP:0004887", + "Respiratory distress necessitating mechanical ventilation": "HP:0004887", + "Respiratory distress requiring endotracheal intubation": "HP:0004887", + "Respiratory distress requiring mechanical ventilation": "HP:0004887", + "Intermittent episodes of respiratory insufficiency due to muscle weakness": "HP:0004889", + "Elevated pulmonary artery pressure": "HP:0004890", + "Elevated lung artery pressure": "HP:0004890", + "increased pulmonary artery pressure": "HP:0004890", + "Recurrent infections due to aspiration": "HP:0004891", + "Laryngotracheal stenosis": "HP:0004894", + "Stress/infection-induced lactic acidosis": "HP:0004897", + "Metabolic crises during febrile infections": "HP:0004897", + "Persistent lactic acidosis": "HP:0004898", + "Severe lactic acidosis": "HP:0004900", + "Exercise-induced lactic acidemia": "HP:0004901", + "Exercise-induced lactic acidosis": "HP:0004901", + "Congenital lactic acidosis": "HP:0004902", + "Maturity-onset diabetes of the young": "HP:0004904", + "Maturity onset diabetes of the young": "HP:0004904", + "MODY": "HP:0004904", + "Reduced circulating vitamin A concentration": "HP:0004905", + "Low levels of vitamin A": "HP:0004905", + "Vitamin A deficiency": "HP:0004905", + "Hypernatremic dehydration": "HP:0004906", + "Hypokalemic hypochloremic metabolic alkalosis": "HP:0004909", + "Bicarbonate-wasting renal tubular acidosis": "HP:0004910", + "HCO3-wasting renal tubular acidosis": "HP:0004910", + "Renal bicarbonate wasting": "HP:0004910", + "Episodic metabolic acidosis": "HP:0004911", + "Recurrent episodes of acidosis": "HP:0004911", + "Hypophosphatemic rickets": "HP:0004912", + "Intermittent lactic acidemia": "HP:0004913", + "Recurrent infantile hypoglycemia": "HP:0004914", + "Episodic infantile hypoglycemia": "HP:0004914", + "Recurrent low blood sugar in infant": "HP:0004914", + "Impairment of galactose metabolism": "HP:0004915", + "Impaired galactose metabolism": "HP:0004915", + "Generalized distal tubular acidosis": "HP:0004916", + "Generalised distal tubular acidosis": "HP:0004916", + "Hyperchloremic metabolic acidosis": "HP:0004918", + "Non-gap acidosis": "HP:0004918", + "Galactose intolerance": "HP:0004919", + "Phenylpyruvic acidemia": "HP:0004920", + "Abnormal magnesium concentration": "HP:0004921", + "Abnormal Mg concentration": "HP:0004921", + "Abnormality of magnesium homeostasis": "HP:0004921", + "Abnormal magnesium metabolism": "HP:0004921", + "Atypical hyperphenylalaninemia": "HP:0004922", + "Hyperphenylalaninemia": "HP:0004923", + "Abnormal oral glucose tolerance": "HP:0004924", + "Abnormal glucose oral tolerance test": "HP:0004924", + "Chronic lactic acidosis": "HP:0004925", + "Orthostatic hypotension due to autonomic dysfunction": "HP:0004926", + "Pulmonary artery dilatation": "HP:0004927", + "obsolete Peripheral arterial stenosis": "HP:0004928", + "obsolete Coronary atherosclerosis": "HP:0004929", + "Abnormality of the pulmonary vasculature": "HP:0004930", + "Abnormality of the lung blood vessels": "HP:0004930", + "Arteriosclerosis of small cerebral arteries": "HP:0004931", + "Hardened artery wall in small cerebral arteries": "HP:0004931", + "Ascending aortic dissection": "HP:0004933", + "Type A aortic dissection": "HP:0004933", + "Vascular calcification": "HP:0004934", + "Pulmonary artery atresia": "HP:0004935", + "Atresia of the pulmonary artery": "HP:0004935", + "Pulmonary atresia": "HP:0004935", + "Venous thrombosis": "HP:0004936", + "Blood clot in vein": "HP:0004936", + "Pulmonary artery aneurysm": "HP:0004937", + "Tortuous cerebral arteries": "HP:0004938", + "Twisted cerebral arteries": "HP:0004938", + "Generalized arterial calcification": "HP:0004940", + "Generalised arterial calcification": "HP:0004940", + "Extrahepatic portal hypertension": "HP:0004941", + "Aortic aneurysm": "HP:0004942", + "Aortic dilatation": "HP:0004942", + "Bulge in wall of large artery that carries blood away from heart": "HP:0004942", + "Enlarged aorta": "HP:0004942", + "Accelerated atherosclerosis": "HP:0004943", + "Accelerated plaque build-up in arteries": "HP:0004943", + "Dilatation of the cerebral artery": "HP:0004944", + "Brain aneurysm": "HP:0004944", + "Intracranial aneurysm": "HP:0004944", + "Cerebral aneurysm": "HP:0004944", + "Cerebral artery aneurysm": "HP:0004944", + "Extracranial internal carotid artery dissection": "HP:0004945", + "Arteriovenous fistula": "HP:0004947", + "Arteriovenous fistulas": "HP:0004947", + "Vascular tortuosity": "HP:0004948", + "Twisted blood vessels": "HP:0004948", + "Peripheral arterial stenosis": "HP:0004950", + "Peripheral artery disease": "HP:0004950", + "Arterial disease of legs": "HP:0004950", + "Occlusive arterial disease": "HP:0004950", + "Occlusive vascular disease": "HP:0004950", + "Peripheral artery occlusive disease": "HP:0004950", + "Peripheral vascular disease": "HP:0004950", + "Pulmonary arteriovenous fistulas": "HP:0004952", + "obsolete Dilatation of abdominal aorta": "HP:0004953", + "obsolete Dilatation of the descending aorta": "HP:0004954", + "Generalized arterial tortuosity": "HP:0004955", + "Generalised arterial tortuosity": "HP:0004955", + "Generalised twisted arteries": "HP:0004955", + "Generalized twisted arteries": "HP:0004955", + "Arterial tortuosity, general": "HP:0004955", + "Arterial tortuosity, generalised": "HP:0004955", + "Arterial tortuosity, generalized": "HP:0004955", + "Descending thoracic aorta aneurysm": "HP:0004959", + "Dilatation of the descending thoracic aorta": "HP:0004959", + "Absent pulmonary artery": "HP:0004960", + "Absent lung artery": "HP:0004960", + "Missing pulmonary artery": "HP:0004960", + "Pulmonary artery sling": "HP:0004961", + "Thoracic aorta calcification": "HP:0004962", + "Calcification of the aorta": "HP:0004963", + "Pulmonary arterial medial hypertrophy": "HP:0004964", + "Hypertrophy of the pulmonary artery wall": "HP:0004964", + "Medial calcification of large arteries": "HP:0004966", + "Recurrent cerebral hemorrhage": "HP:0004968", + "Recurrent cerebral haemorrhage": "HP:0004968", + "Recurrent hemorrhagic stroke": "HP:0004968", + "Peripheral pulmonary artery stenosis": "HP:0004969", + "Narrowing of peripheral lung artery": "HP:0004969", + "Peripheral pulmonic stenosis": "HP:0004969", + "peripheral pulmonary stenosis": "HP:0004969", + "Occlusion of small pulmonary arteries": "HP:0004969", + "Ascending tubular aorta aneurysm": "HP:0004970", + "Ascending aorta dilation": "HP:0004970", + "Aneurysm of the ascending tubular aorta": "HP:0004970", + "Ascending aortic aneurysm": "HP:0004970", + "Ascending aortic dilation": "HP:0004970", + "Bulging of wall of large artery located above heart": "HP:0004970", + "Dilatation of ascending aorta": "HP:0004970", + "Pulmonary artery hypoplasia": "HP:0004971", + "Underdeveloped lung artery": "HP:0004971", + "Underdeveloped pulmonary artery": "HP:0004971", + "Elevated mean arterial pressure": "HP:0004972", + "Coarctation of abdominal aorta": "HP:0004974", + "Erlenmeyer flask deformity of the femurs": "HP:0004975", + "Erlenmeyer flask deformity of distal femur": "HP:0004975", + "Erlenmeyer flask femora": "HP:0004975", + "Erlenmeyer flask shaped thighbone": "HP:0004975", + "Knee dislocation": "HP:0004976", + "Dislocations of the knees": "HP:0004976", + "Knee dislocations": "HP:0004976", + "Bilateral radial aplasia": "HP:0004977", + "Bilateral absence of radius": "HP:0004977", + "Metaphyseal sclerosis": "HP:0004979", + "Increased bone density in wide portion of long bone": "HP:0004979", + "Sclerotic metaphyses": "HP:0004979", + "Metaphyseal rarefaction": "HP:0004980", + "Rarefaction of the metaphyses": "HP:0004980", + "Prominent styloid process of ulna": "HP:0004981", + "obsolete Rudimentary to absent fibulae": "HP:0004986", + "Mesomelic leg shortening": "HP:0004987", + "Mesomelia of the lower limbs": "HP:0004987", + "Mesomelic lower limb shortening": "HP:0004987", + "Epiphyseal streaking": "HP:0004990", + "Rhizomelic arm shortening": "HP:0004991", + "Slender long bones with narrow diaphyses": "HP:0004993", + "Slender long bones with narrow shaft": "HP:0004993", + "Multicentric ossification of proximal humeral epiphyses": "HP:0004997", + "Recurrent patellar dislocation": "HP:0005001", + "Recurrent dislocation of patellas": "HP:0005001", + "Aplasia/Hypoplasia of the capital femoral epiphysis": "HP:0005003", + "Absent/small end part of innermost thighbone": "HP:0005003", + "Absent/underdeveloped end part of innermost thighbone": "HP:0005003", + "Flattened proximal radial epiphyses": "HP:0005004", + "Femoral bowing present at birth, straightening with time": "HP:0005005", + "Bowing of thighbone at birth, straightening with time": "HP:0005005", + "Large joint dislocations": "HP:0005008", + "Dumbbell-shaped humerus": "HP:0005009", + "Dumbbell-shaped long bone in upper arm": "HP:0005009", + "Osteomyelitis leading to amputation due to slow healing fractures": "HP:0005010", + "Mesomelic arm shortening": "HP:0005011", + "Mesomelia of the upper limbs": "HP:0005011", + "Upper limb brachymesomelia": "HP:0005011", + "Dysplastic distal radial epiphyses": "HP:0005013", + "Polyarticular chondrocalcinosis": "HP:0005017", + "Diaphyseal undertubulation": "HP:0005019", + "Diaphyseal widening": "HP:0005019", + "Thickening of shaft or central part of long bones": "HP:0005019", + "Undertubulated long bones": "HP:0005019", + "Undertubulation of diaphyses": "HP:0005019", + "Bilateral elbow dislocations": "HP:0005021", + "Dislocated elbows on both sides": "HP:0005021", + "Hypoplastic distal humeri": "HP:0005025", + "Mesomelic/rhizomelic limb shortening": "HP:0005026", + "Widened proximal tibial metaphyses": "HP:0005028", + "Wide innermost wide portion of shankbone bone": "HP:0005028", + "Wide innermost wide portion of shinbone bone": "HP:0005028", + "Distal ulnar hypoplasia": "HP:0005033", + "Distal shortening of ulna": "HP:0005033", + "Hypoplastic distal ulna": "HP:0005033", + "Shortening of all phalanges of the toes": "HP:0005035", + "Short toe bones": "HP:0005035", + "Unilateral ulnar hypoplasia": "HP:0005036", + "Proximal radio-ulnar synostosis": "HP:0005037", + "Multiple long-bone exostoses": "HP:0005039", + "Multiple exostoses of long tubular bones": "HP:0005039", + "Irregular capital femoral epiphysis": "HP:0005041", + "Irregular end part of innermost thighbone": "HP:0005041", + "Irregular proximal femoral epiphyses": "HP:0005041", + "Irregular capital femoral epiphyses": "HP:0005041", + "Irregular, rachitic-like metaphyses": "HP:0005042", + "Proximal humeral metaphyseal irregularity": "HP:0005043", + "Irregular proximal humeral metaphyses": "HP:0005043", + "Diaphyseal cortical sclerosis": "HP:0005045", + "Synostosis of carpal bones": "HP:0005048", + "Fusion of wrist bones": "HP:0005048", + "Anterolateral radial head dislocation": "HP:0005050", + "Anterior/lateral radial head dislocation": "HP:0005050", + "Metaphyseal spurs": "HP:0005054", + "Arthralgia/arthritis": "HP:0005059", + "Joint pain/Joint inflammation": "HP:0005059", + "Limited elbow flexion/extension": "HP:0005060", + "Fragmented, irregular epiphyses": "HP:0005063", + "Fragmented, irregular end part of bone": "HP:0005063", + "Cone-shaped epiphyses fused within their metaphyses": "HP:0005066", + "Cone-shaped end part of long bone fused within their wide portion of wide bone": "HP:0005066", + "Proximal fibular overgrowth": "HP:0005067", + "Overgrowth of innermost part of calf bone": "HP:0005067", + "Absent styloid process of ulna": "HP:0005068", + "Rhizo-meso-acromelic limb shortening": "HP:0005069", + "Proximal radial head dislocation": "HP:0005070", + "Wrist hypermobility": "HP:0005072", + "Hyperextensibility at wrists": "HP:0005072", + "Increased laxity of wrists": "HP:0005072", + "Increased wrist mobility": "HP:0005072", + "Anterior radial head dislocation": "HP:0005084", + "Anterior dislocation of radial head": "HP:0005084", + "Limited knee flexion/extension": "HP:0005085", + "Knee osteoarthritis": "HP:0005086", + "Abnormal metaphyseal trabeculation": "HP:0005089", + "Lateral femoral bowing": "HP:0005090", + "Streaky metaphyseal sclerosis": "HP:0005092", + "Streak increase in bone density in wide portion of wide bone": "HP:0005092", + "Absent proximal radial epiphyses": "HP:0005093", + "Distal femoral bowing": "HP:0005096", + "obsolete Severe hydrops fetalis": "HP:0005099", + "Severe hydrops": "HP:0005099", + "Premature birth following premature rupture of fetal membranes": "HP:0005100", + "Premature birth following premature rupture of foetal membranes": "HP:0005100", + "High-frequency hearing impairment": "HP:0005101", + "Hearing loss, high-frequency": "HP:0005101", + "High frequency hearing loss": "HP:0005101", + "High-frequency deafness": "HP:0005101", + "Progressive high frequency hearing loss": "HP:0005101", + "Progressive high-frequency hearing loss": "HP:0005101", + "Cochlear degeneration": "HP:0005102", + "Progressive cochlear degeneration": "HP:0005102", + "Calcification of the auricular cartilage": "HP:0005103", + "Cartilaginous ossification of pinnae": "HP:0005103", + "Ossification of pinnae": "HP:0005103", + "Petrified ear": "HP:0005103", + "Ear cartilage calcification": "HP:0005103", + "Hypoplastic nasal septum": "HP:0005104", + "Decreased size of nasal septum": "HP:0005104", + "Decreased size of septum of nose": "HP:0005104", + "Hypoplasia of septum of nose": "HP:0005104", + "Small nasal septum": "HP:0005104", + "Small septum of nose": "HP:0005104", + "Abnormal nasal morphology": "HP:0005105", + "Abnormal nose morphology": "HP:0005105", + "Abnormal of morphology of nose": "HP:0005105", + "Abnormal of nasal shape": "HP:0005105", + "Abnormal of shape of nose": "HP:0005105", + "Abnormality of the vertebral endplates": "HP:0005106", + "Abnormal sacrum morphology": "HP:0005107", + "Abnormality of the sacrum": "HP:0005107", + "Abnormal intervertebral disk morphology": "HP:0005108", + "Abnormality of the intervertebral disc": "HP:0005108", + "Abnormality of the intervertebral disk": "HP:0005108", + "Abnormality of the Achilles tendon": "HP:0005109", + "Abnormality of the calcaneal tendon": "HP:0005109", + "Atrial fibrillation": "HP:0005110", + "Quivering upper heart chambers resulting in irregular heartbeat": "HP:0005110", + "obsolete Dilatation of the ascending aorta": "HP:0005111", + "Abdominal aortic aneurysm": "HP:0005112", + "Dilatation of the abdominal aorta": "HP:0005112", + "Aortic arch aneurysm": "HP:0005113", + "Aortic arch dilatation": "HP:0005113", + "Dilatation of the aortic arch": "HP:0005113", + "obsolete Abnormalities of the peripheral arteries": "HP:0005114", + "Supraventricular arrhythmia": "HP:0005115", + "Supraventricular arrhythmias": "HP:0005115", + "Arterial tortuosity": "HP:0005116", + "Elevated diastolic blood pressure": "HP:0005117", + "Elevated diastolic BP": "HP:0005117", + "Abnormal cardiac atrium morphology": "HP:0005120", + "Abnormality of cardiac atrium morphology": "HP:0005120", + "Abnormality of heart atrium": "HP:0005120", + "Posterior scalloping of vertebral bodies": "HP:0005121", + "Posterior vertebral body scalloping": "HP:0005121", + "Congenital hypertrophy of left ventricle": "HP:0005129", + "obsolete Restrictive heart failure": "HP:0005130", + "Pericardial constriction": "HP:0005132", + "Right ventricular dilatation": "HP:0005133", + "Dilated heart right ventricle": "HP:0005133", + "Absence of the pulmonary valve": "HP:0005134", + "Absent pulmonary valve": "HP:0005134", + "Abnormal T-wave": "HP:0005135", + "EKG: T-wave abnormalities": "HP:0005135", + "T-wave abnormalities": "HP:0005135", + "Mitral annular calcification": "HP:0005136", + "Premature calcification of mitral annulus": "HP:0005136", + "obsolete Episodes of ventricular tachycardia": "HP:0005141", + "Anomalous origin of right pulmonary artery from ascending aorta": "HP:0005143", + "Ventricular septal hypertrophy": "HP:0005144", + "Thickened interventricular septum": "HP:0005144", + "Coronary artery stenosis": "HP:0005145", + "Narrowing of coronary artery": "HP:0005145", + "Cardiac valve calcification": "HP:0005146", + "Calcifications of the cardiac valves": "HP:0005146", + "Bidirectional ventricular ectopy": "HP:0005147", + "Pulmonary valve defects": "HP:0005148", + "Abnormal atrioventricular conduction": "HP:0005150", + "Preductal coarctation of the aorta": "HP:0005151", + "Proximal aortic coarctation": "HP:0005151", + "Histiocytoid cardiomyopathy": "HP:0005152", + "Arachnocytosis of the myocardium": "HP:0005152", + "Foamy myocardial transformation": "HP:0005152", + "Focal lipid cardiomyopathy": "HP:0005152", + "Infantile cardiomyopathy with histiocytoid changes": "HP:0005152", + "Infantile xanthomatous cardiomyopathy": "HP:0005152", + "Isolated cardiac lipidosis": "HP:0005152", + "Myocardial or conduction system hamartoma": "HP:0005152", + "Oncocytic cardiomyopathy": "HP:0005152", + "Ventricular escape rhythm": "HP:0005155", + "Idioventricular escape rhythm": "HP:0005155", + "Hypoplastic left atrium": "HP:0005156", + "Left atrium hypoplasia": "HP:0005156", + "Underdeveloped left heart atrium": "HP:0005156", + "Concentric hypertrophic cardiomyopathy": "HP:0005157", + "Symmetric, concentric, hypertrophic cardiomyopathy": "HP:0005157", + "Total anomalous pulmonary venous return": "HP:0005160", + "Total anomalous pulmonary venous connection": "HP:0005160", + "Total anomalous pulmonary venous drainage": "HP:0005160", + "Abnormal left ventricular function": "HP:0005162", + "Impaired left ventricular function": "HP:0005162", + "Left ventricular dysfunction": "HP:0005162", + "Left ventricular failure": "HP:0005162", + "Left ventricular impairment": "HP:0005162", + "Left-sided heart failure": "HP:0005162", + "Dysplastic pulmonary valve": "HP:0005164", + "Dysplasia of pulmonary valve": "HP:0005164", + "Pulmonary valve dysplasia": "HP:0005164", + "Shortened PR interval": "HP:0005165", + "Electrocardiographic short PR interval": "HP:0005165", + "Short P-R interval": "HP:0005165", + "Shortened PR interval on EKG": "HP:0005165", + "Elevated right atrial pressure": "HP:0005168", + "Complete heart block with broad QRS complexes": "HP:0005170", + "Left posterior fascicular block": "HP:0005172", + "Left posterior hemiblock": "HP:0005172", + "obsolete Calcific aortic valve stenosis": "HP:0005173", + "Membranous subvalvular aortic stenosis": "HP:0005174", + "Dysplastic aortic valve": "HP:0005176", + "Premature arteriosclerosis": "HP:0005177", + "Premature hardening of arteries": "HP:0005177", + "Complete heart block with narrow QRS complexes": "HP:0005178", + "Tricuspid regurgitation": "HP:0005180", + "Tricuspid insufficiency": "HP:0005180", + "Tricuspid valve regurgitation": "HP:0005180", + "Premature coronary artery atherosclerosis": "HP:0005181", + "Premature coronary artery disease": "HP:0005181", + "Bicuspid pulmonary valve": "HP:0005182", + "Pericardial lymphangiectasia": "HP:0005183", + "Prolonged QTc interval": "HP:0005184", + "Global systolic dysfunction": "HP:0005185", + "Synovial lining hyperplasia": "HP:0005186", + "Synovial hyperplasia": "HP:0005186", + "Synovial hypertrophy": "HP:0005186", + "Progressive joint destruction": "HP:0005187", + "Proximal finger joint hyperextensibility": "HP:0005190", + "Congenital knee dislocation": "HP:0005191", + "Dislocated knee since birth": "HP:0005191", + "Restricted large joint movement": "HP:0005193", + "Flattened metatarsal heads": "HP:0005194", + "Flattened head of long bone of foot": "HP:0005194", + "Polyarticular arthropathy": "HP:0005195", + "Generalized morning stiffness": "HP:0005197", + "Generalised morning stiffness": "HP:0005197", + "Stiff interphalangeal joints": "HP:0005198", + "Stiff hinge joints": "HP:0005198", + "Aplasia of the abdominal wall musculature": "HP:0005199", + "Absent abdominal musculature": "HP:0005199", + "Retroperitoneal fibrosis": "HP:0005200", + "Anomalous splenoportal venous system": "HP:0005201", + "Helicobacter pylori infection": "HP:0005202", + "Spontaneous esophageal perforation": "HP:0005203", + "Spontaneous esophageal rupture": "HP:0005203", + "Boerhaave syndrome": "HP:0005203", + "Pancreatic pseudocyst": "HP:0005206", + "Gastric hypertrophy": "HP:0005207", + "Increased stomach size": "HP:0005207", + "Secretory diarrhea": "HP:0005208", + "Secretory diarrhoea": "HP:0005208", + "Intrahepatic bile duct cysts": "HP:0005209", + "Hypoplastic colon": "HP:0005210", + "Hypoplasia of the colon": "HP:0005210", + "Underdeveloped colon": "HP:0005210", + "Midgut malrotation": "HP:0005211", + "Anal mucosal leukoplakia": "HP:0005212", + "Pancreatic calcification": "HP:0005213", + "Pancreatic calcifications": "HP:0005213", + "Intestinal obstruction": "HP:0005214", + "Bowel obstruction": "HP:0005214", + "Intestinal blockage": "HP:0005214", + "Frequent Giardia lamblia infestation": "HP:0005215", + "Impaired mastication": "HP:0005216", + "Chewing difficulties": "HP:0005216", + "Chewing difficulty": "HP:0005216", + "Difficulty chewing": "HP:0005216", + "Abdominal organ duplication": "HP:0005217", + "Anoperineal fistula": "HP:0005218", + "Perianal fistula": "HP:0005218", + "Absence of intrinsic factor": "HP:0005219", + "Intrinsic factor absent from gastric juice": "HP:0005219", + "Multiple intestinal neurofibromatosis": "HP:0005220", + "Bowel diverticulosis": "HP:0005222", + "Bowel diverticula": "HP:0005222", + "Duplicated colon": "HP:0005223", + "Rectal abscess": "HP:0005224", + "Perirectal abscess": "HP:0005224", + "Intestinal edema": "HP:0005225", + "Intestinal oedema": "HP:0005225", + "Adenomatous colonic polyposis": "HP:0005227", + "Multiple adenomatous colon polyps": "HP:0005227", + "Multiple colonic adenomatous polyps": "HP:0005227", + "Jejunoileal ulceration": "HP:0005229", + "Biliary tract obstruction": "HP:0005230", + "Chronic gastritis": "HP:0005231", + "Pancreatic dysplasia": "HP:0005232", + "Hypoplasia of the gallbladder": "HP:0005233", + "Hypoplastic gallbladder": "HP:0005233", + "Neonatal intestinal obstruction": "HP:0005234", + "Jejunal atresia": "HP:0005235", + "Chronic calcifying pancreatitis": "HP:0005236", + "Degenerative liver disease": "HP:0005237", + "Discrete intestinal polyps": "HP:0005238", + "Esophageal obstruction": "HP:0005240", + "Total intestinal aganglionosis": "HP:0005241", + "Extrahepatic biliary duct atresia": "HP:0005242", + "Biliary atresia, extrahepatic": "HP:0005242", + "Partial abdominal muscle agenesis": "HP:0005243", + "Gastrointestinal infarctions": "HP:0005244", + "Death of digestive organ tissue due to poor blood supply": "HP:0005244", + "GI infarctions": "HP:0005244", + "Intestinal hypoplasia": "HP:0005245", + "Hypoplastic intestines": "HP:0005245", + "Underdeveloped instestine": "HP:0005245", + "Giant hypertrophic gastritis": "HP:0005246", + "Menetrier disease": "HP:0005246", + "Hypoplasia of the abdominal wall musculature": "HP:0005247", + "Abdominal muscular hypoplasia": "HP:0005247", + "Intrahepatic biliary atresia": "HP:0005248", + "Bile duct paucity": "HP:0005248", + "Intrahepatic atresia of biliary duct": "HP:0005248", + "Functional intestinal obstruction": "HP:0005249", + "High intestinal obstruction": "HP:0005250", + "Increased anterioposterior diameter of thorax": "HP:0005253", + "Increased anterioposterior diameter of chest": "HP:0005253", + "Unilateral chest hypoplasia": "HP:0005254", + "Small chest on one side": "HP:0005254", + "Underdeveloped chest on one side": "HP:0005254", + "Absence of pectoralis minor muscle": "HP:0005255", + "Pectoralis minor aplasia": "HP:0005255", + "Unilateral absence of pectoralis major muscle": "HP:0005256", + "Unilateral aplasia of pectoralis major muscle": "HP:0005256", + "Thoracic hypoplasia": "HP:0005257", + "Small chest": "HP:0005257", + "Small thorax": "HP:0005257", + "Pectoral muscle hypoplasia/aplasia": "HP:0005258", + "Small/absent pec muscle": "HP:0005258", + "Underdeveloped/absent pec muscle": "HP:0005258", + "Abnormal facility in opposing the shoulders": "HP:0005259", + "Joint hemorrhage": "HP:0005261", + "Bleeding within a joint": "HP:0005261", + "Hemarthroses": "HP:0005261", + "Hemarthrosis": "HP:0005261", + "Spontaneous joint haemorrhage": "HP:0005261", + "Spontaneous joint hemorrhage": "HP:0005261", + "Abnormal synovial membrane morphology": "HP:0005262", + "Gastritis": "HP:0005263", + "Stomach inflammation": "HP:0005263", + "Abnormality of the gallbladder": "HP:0005264", + "Anomaly of the gallbladder": "HP:0005264", + "Abnormal jejunum morphology": "HP:0005265", + "Abnormality of the jejunum": "HP:0005265", + "Intestinal polyp": "HP:0005266", + "Intestinal polyps": "HP:0005266", + "Premature delivery because of cervical insufficiency or membrane fragility": "HP:0005267", + "Miscarriage": "HP:0005268", + "Early fetal demise": "HP:0005268", + "Early foetal demise": "HP:0005268", + "Spontaneous abortion": "HP:0005268", + "Prominent nasolabial fold": "HP:0005272", + "Deep laugh lines": "HP:0005272", + "Deep nasolabial crease": "HP:0005272", + "Deep nasolabial fold": "HP:0005272", + "Deep nasolabial groove": "HP:0005272", + "Deep smile lines": "HP:0005272", + "Nasolabial crease, prominent": "HP:0005272", + "Prominent laugh lines": "HP:0005272", + "Prominent nasolabial groove": "HP:0005272", + "Prominent smile lines": "HP:0005272", + "Absent nasal septal cartilage": "HP:0005273", + "Absent nasal septum": "HP:0005273", + "Ageneis of nasal septal cartilage": "HP:0005273", + "Failure of development of nasal septal cartilage": "HP:0005273", + "Prominent nasal tip": "HP:0005274", + "Large nasal tip": "HP:0005274", + "Large tip of nose": "HP:0005274", + "Prominent tip of nose": "HP:0005274", + "Pronounced nasal tip": "HP:0005274", + "Pronounced tip of nose": "HP:0005274", + "Bulbous tip of nose": "HP:0005274", + "Hyperplasia of nasal tip": "HP:0005274", + "Hyperplasia of tip of nose": "HP:0005274", + "Hypertrophy of nasal tip": "HP:0005274", + "Hypertrophy of tip of nose": "HP:0005274", + "Cartilaginous ossification of nose": "HP:0005275", + "Cartilaginous nasal ossification": "HP:0005275", + "Hypoplastic nasal tip": "HP:0005278", + "Decreased size of nasal tip": "HP:0005278", + "Decreased size of tip of nose": "HP:0005278", + "Hypoplasia of tip of nose": "HP:0005278", + "Small nasal tip": "HP:0005278", + "Small tip of nose": "HP:0005278", + "Underdevelopment of nasal tip": "HP:0005278", + "Underdevelopment of tip of nose": "HP:0005278", + "Aplasia of nasal tip": "HP:0005278", + "Deficient nasal tip": "HP:0005278", + "Hypotrophic nasal tip": "HP:0005278", + "Hypotrophic tip of nose": "HP:0005278", + "Depressed nasal bridge": "HP:0005280", + "Depressed bridge of nose": "HP:0005280", + "Depressed nasal root": "HP:0005280", + "Flat bridge of nose": "HP:0005280", + "Flat nasal bridge": "HP:0005280", + "Flat nasal root": "HP:0005280", + "Flat, nasal bridge": "HP:0005280", + "Flattened nasal bridge": "HP:0005280", + "Low nasal bridge": "HP:0005280", + "Low nasal root": "HP:0005280", + "Retruded bridge of nose": "HP:0005280", + "Retruded nasal bridge": "HP:0005280", + "Concave bridge of nose": "HP:0005280", + "Concave nasal bridge": "HP:0005280", + "Depressed nasal root/bridge": "HP:0005280", + "Hypoplastic nasal bridge": "HP:0005281", + "Decreased size of bridge of nose": "HP:0005281", + "Decreased size of nasal bridge": "HP:0005281", + "Hypoplastic bridge of nose": "HP:0005281", + "Small bridge of nose": "HP:0005281", + "Small nasal bridge": "HP:0005281", + "Hypotrophic bridge of nose": "HP:0005281", + "Hypotrophic nasal bridge": "HP:0005281", + "Absent nasal bridge": "HP:0005285", + "Absent bridge of nose": "HP:0005285", + "Agenesis of bridge of nose": "HP:0005285", + "Agenesis of nasal bridge": "HP:0005285", + "Missing bridge of nose": "HP:0005285", + "Missing nasal bridge": "HP:0005285", + "Abnormal nostril morphology": "HP:0005288", + "Abnormal naris morphology": "HP:0005288", + "Abnormality of the nares": "HP:0005288", + "Abnormality of the nostrils": "HP:0005288", + "Anomaly of the nares": "HP:0005288", + "Deformity of the nares": "HP:0005288", + "Deformity of the nostrils": "HP:0005288", + "Malformation of the nares": "HP:0005288", + "Malformation of the nostrils": "HP:0005288", + "Abnormal nasolabial region morphology": "HP:0005289", + "Abnormality of the nasolabial region": "HP:0005289", + "Anomaly of the nasolabial region": "HP:0005289", + "Deformity of the nasolabial region": "HP:0005289", + "Malformation of the nasolabial region": "HP:0005289", + "Internal carotid artery hypoplasia": "HP:0005290", + "Decreased size of internal carotid artery": "HP:0005290", + "Small internal carotid artery": "HP:0005290", + "Aplasia of internal carotid artery": "HP:0005290", + "Deficiency of internal carotid artery": "HP:0005290", + "Hypotrophic internal carotid artery": "HP:0005290", + "Inflammatory arteriopathy": "HP:0005291", + "Intimal thickening in the coronary arteries": "HP:0005292", + "Venous insufficiency": "HP:0005293", + "Poorly functioning veins": "HP:0005293", + "Arterial dissection": "HP:0005294", + "Pseudocoarctation of the aorta": "HP:0005295", + "obsolete Occlusive vascular disease": "HP:0005296", + "Premature occlusive vascular stenosis": "HP:0005297", + "obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia": "HP:0005298", + "obsolete Premature peripheral vascular disease": "HP:0005299", + "Nodular inflammatory vasculitis": "HP:0005300", + "Persistent left superior vena cava": "HP:0005301", + "PLSVC": "HP:0005301", + "Carotid artery tortuosity": "HP:0005302", + "Tortuous carotid arteries": "HP:0005302", + "Aortic arch calcification": "HP:0005303", + "Hypoplastic pulmonary veins": "HP:0005304", + "Underdeveloped lung veins": "HP:0005304", + "Cerebral venous thrombosis": "HP:0005305", + "Blood clot in cerebral vein": "HP:0005305", + "Cerebral thrombosis": "HP:0005305", + "Cerebral vein thrombosis": "HP:0005305", + "Capillary hemangioma": "HP:0005306", + "Capillary hemangiomata": "HP:0005306", + "Strawberry birthmark": "HP:0005306", + "Postural hypotension with compensatory tachycardia": "HP:0005307", + "Pulmonary artery vasoconstriction": "HP:0005308", + "obsolete Peripheral vascular insufficiency": "HP:0005309", + "Large vessel vasculitis": "HP:0005310", + "Agenesis of pulmonary vessels": "HP:0005311", + "Absent lung vessels": "HP:0005311", + "Pulmonary aterial intimal fibrosis": "HP:0005312", + "Arterial fibromuscular dysplasia": "HP:0005313", + "Anomalous branches of internal carotid artery": "HP:0005314", + "obsolete Peripheral artery occlusive disease": "HP:0005315", + "Peripheral pulmonary vessel aplasia": "HP:0005316", + "Increased pulmonary vascular resistance": "HP:0005317", + "Cerebral vasculitis": "HP:0005318", + "Lack of facial subcutaneous fat": "HP:0005320", + "Lack of facial fat below the skin": "HP:0005320", + "Mandibulofacial dysostosis": "HP:0005321", + "Treacher Collins syndrome": "HP:0005321", + "Prominent nasal septum": "HP:0005322", + "Prominent septum of nose": "HP:0005322", + "Low hanging nasal septum": "HP:0005322", + "Low hanging septum of nose": "HP:0005322", + "Visible nasal septum": "HP:0005322", + "Visible septum of nose": "HP:0005322", + "Hemifacial hypertrophy": "HP:0005323", + "Enlargement of half of face": "HP:0005323", + "Facial hemihypertophy": "HP:0005323", + "Hemifacial enlargement": "HP:0005323", + "Hypertrophy of half of face": "HP:0005323", + "Increase in size of half of face": "HP:0005323", + "Overgrowth of half of face": "HP:0005323", + "Facial hemihyperplasia": "HP:0005323", + "Friedreich's disease": "HP:0005323", + "Disturbance of facial expression": "HP:0005324", + "Extension of hair growth on temples to lateral eyebrow": "HP:0005325", + "Unusual hairline with hair growth on temples extending to lateral eyebrow": "HP:0005325", + "Hypoplastic philtrum": "HP:0005326", + "Small philtrum": "HP:0005326", + "Loss of facial expression": "HP:0005327", + "Progeroid facial appearance": "HP:0005328", + "Aged facial appearance": "HP:0005328", + "Premature aged appearance": "HP:0005328", + "Prematurely aged face": "HP:0005328", + "Prematurely aged facial appearance": "HP:0005328", + "Wizened face": "HP:0005328", + "Fixed facial expression": "HP:0005329", + "Unchanging facial expression": "HP:0005329", + "Recurrent mandibular subluxations": "HP:0005332", + "Sleepy facial expression": "HP:0005335", + "Somnolent facial expression": "HP:0005335", + "Forehead hyperpigmentation": "HP:0005336", + "Darkening of the forehead": "HP:0005336", + "Sparse lateral eyebrow": "HP:0005338", + "Lateral hypoplasia of eyebrows": "HP:0005338", + "Lateral thinning of eyebrows": "HP:0005338", + "Laterally sparse eyebrow": "HP:0005338", + "Laterally sparse eyebrows": "HP:0005338", + "Limited hair on end of eyebrow": "HP:0005338", + "Sparse lateral eyebrows": "HP:0005338", + "Abnormality of complement system": "HP:0005339", + "Spastic/hyperactive bladder": "HP:0005340", + "Autonomic bladder dysfunction": "HP:0005341", + "Hypoplasia of the bladder": "HP:0005343", + "Hypoplastic bladder": "HP:0005343", + "Underdeveloped bladder": "HP:0005343", + "Abnormal carotid artery morphology": "HP:0005344", + "Abnormality of the carotid arteries": "HP:0005344", + "Abnormal vena cava morphology": "HP:0005345", + "Abnormality of the vena cava": "HP:0005345", + "Abnormal facial expression": "HP:0005346", + "Tracheal cartilaginous sleeve": "HP:0005347", + "Inspiratory stridor": "HP:0005348", + "Hypoplasia of the epiglottis": "HP:0005349", + "Hypoplastic epiglottis": "HP:0005349", + "Severe T-cell immunodeficiency": "HP:0005352", + "Recurrent herpes": "HP:0005353", + "Susceptibility to herpesvirus": "HP:0005353", + "Lack of T cell function": "HP:0005354", + "Absent cellular immunity": "HP:0005354", + "Decreased circulating complement factor I concentration": "HP:0005356", + "Decreased serum complement factor I": "HP:0005356", + "Defective B cell differentiation": "HP:0005357", + "Aplasia of the thymus": "HP:0005359", + "Absent thymus": "HP:0005359", + "Athymia": "HP:0005359", + "Absent thymic shadow": "HP:0005359", + "Lack of thymic shadow": "HP:0005359", + "Susceptibility to chickenpox": "HP:0005360", + "Humoral immunodeficiency": "HP:0005363", + "obsolete Severe viral infections": "HP:0005364", + "Severe B lymphocytopenia": "HP:0005365", + "Absent B cells": "HP:0005365", + "Absence of B cells": "HP:0005365", + "Recurrent streptococcus pneumoniae infections": "HP:0005366", + "Abnormality of humoral immunity": "HP:0005368", + "Defective humoral immunity": "HP:0005368", + "Decreased circulating complement factor H concentration": "HP:0005369", + "Decreased serum complement factor H": "HP:0005369", + "Abnormality of B cell physiology": "HP:0005372", + "Reduced B cell function": "HP:0005372", + "Cellular immunodeficiency": "HP:0005374", + "obsolete Partial cellular immunodeficiency": "HP:0005375", + "Recurrent Haemophilus influenzae infections": "HP:0005376", + "Recurrent H. influenzae infections": "HP:0005376", + "obsolete Severe T lymphocytopenia": "HP:0005379", + "Recurrent meningococcal disease": "HP:0005381", + "Increased susceptibility to neisseria meningitidis infections": "HP:0005381", + "Defective B cell activation": "HP:0005384", + "Recurrent protozoan infections": "HP:0005386", + "Combined immunodeficiency": "HP:0005387", + "Depletion of components of the alternative complement pathway": "HP:0005389", + "Recurrent opportunistic infections": "HP:0005390", + "Frequent opportunistic infections": "HP:0005390", + "Susceptibility to coronavirus 229e": "HP:0005396", + "obsolete Exaggerated cellular immune processes": "HP:0005397", + "Reduction of neutrophil motility": "HP:0005400", + "Recurrent candida infections": "HP:0005401", + "Frequent candida infections": "HP:0005401", + "obsolete Primary T-lymphocyte immune abnormalities": "HP:0005402", + "T lymphocytopenia": "HP:0005403", + "Decrease in T cell count": "HP:0005403", + "Decrease in T cell number": "HP:0005403", + "Decreased numbers of circulating T cells": "HP:0005403", + "Low T cell count": "HP:0005403", + "Reduced number of T cells": "HP:0005403", + "Increased B cell count": "HP:0005404", + "Increase in B cell count": "HP:0005404", + "Increase in B cell number": "HP:0005404", + "Increased number of B cells": "HP:0005404", + "Recurrent bacterial skin infections": "HP:0005406", + "Recurrent cutaneous pyogenic infections": "HP:0005406", + "Recurrent episodes of impetigo": "HP:0005406", + "Recurrent episodes of infectious dermatitis": "HP:0005406", + "Recurrent pyogenic skin infections": "HP:0005406", + "Decreased proportion of CD4-positive helper T cells": "HP:0005407", + "Abnormality of CD4+ T cells": "HP:0005407", + "CD4 T cell lymphopenia": "HP:0005407", + "CD4+ T-cell lymphopenia": "HP:0005407", + "obsolete Markedly reduced T cell function": "HP:0005409", + "Chronic intestinal candidiasis": "HP:0005411", + "Candida overgrowth syndrome": "HP:0005411", + "Increased alpha-globulin": "HP:0005413", + "Decreased proportion of CD8-positive T cells": "HP:0005415", + "CD8+ T-cell lymphopenia": "HP:0005415", + "Decreased proportion of CD8+ T cells": "HP:0005415", + "Decreased proportion of CD8-positive, alpha-beta T cells": "HP:0005415", + "Decreased circulating complement factor B concentration": "HP:0005416", + "Decreased serum complement factor B": "HP:0005416", + "Decreased serum factor b": "HP:0005416", + "Decreased T cell activation": "HP:0005419", + "Decreased T lymphocyte activation": "HP:0005419", + "Decreased T-cell activation": "HP:0005419", + "Decreased T-lymphocyte activation": "HP:0005419", + "Defective T cell activation": "HP:0005419", + "Profound depletion of T4+ lymphocytes": "HP:0005419", + "Recurrent gram-negative bacterial infections": "HP:0005420", + "Decreased circulating complement C3 concentration": "HP:0005421", + "Decreased serum C3": "HP:0005421", + "Decreased serum complement C3": "HP:0005421", + "Decreased serum complement C3 level": "HP:0005421", + "Absence of CD8-positive T cells": "HP:0005422", + "Absence of CD8+ T cells": "HP:0005422", + "Dysfunctional alternative complement pathway": "HP:0005423", + "Absent specific antibody response": "HP:0005424", + "Recurrent sinopulmonary infections": "HP:0005425", + "Chronic sinopulmonary infection": "HP:0005425", + "Recurrent sinus and lung infections": "HP:0005425", + "Severe recurrent varicella": "HP:0005428", + "Recurrent systemic pyogenic infections": "HP:0005429", + "Recurrent Neisserial infections": "HP:0005430", + "Episodes of neisserial infection": "HP:0005430", + "Recurrent neisseria infections": "HP:0005430", + "Transient hypogammaglobulinemia of infancy": "HP:0005432", + "Newborn gammaglobulin deficiency": "HP:0005432", + "Impaired T cell function": "HP:0005435", + "T-cell dysfunction": "HP:0005435", + "Recurrent infections in infancy and early childhood": "HP:0005437", + "Maxillozygomatic hypoplasia": "HP:0005439", + "Decreased size of zygomaticomaxillary bone complex": "HP:0005439", + "Deficiency of zygomaticomaxillary bone complex": "HP:0005439", + "Hypoplasia of malar bone complex": "HP:0005439", + "Hypoplasia of zygomaticomaxillary complex": "HP:0005439", + "Underdevelopment of zygomaticomaxillary bone complex": "HP:0005439", + "Decreased projection of zygomaticomaxillary bone complex": "HP:0005439", + "Sclerotic cranial sutures": "HP:0005441", + "Widely patent coronal suture": "HP:0005442", + "Enlarged posterior fossa": "HP:0005445", + "Widened posterior fossa": "HP:0005445", + "Obtuse angle of mandible": "HP:0005446", + "High mandibular plane angle": "HP:0005446", + "Steep mandibular plane angle": "HP:0005446", + "Bridged sella turcica": "HP:0005449", + "Calvarial osteosclerosis": "HP:0005450", + "Decreased cranial base ossification": "HP:0005451", + "Absent/hypoplastic paranasal sinuses": "HP:0005453", + "Absent ethmoidal sinuses": "HP:0005456", + "Agenesis of ethmoid sinuses": "HP:0005456", + "Failure of development of ethmoid sinuses": "HP:0005456", + "Missing ethmoid sinuses": "HP:0005456", + "Premature closure of fontanelles": "HP:0005458", + "Early closure of the cranial sutures": "HP:0005458", + "Premature closure of the cranial sutures": "HP:0005458", + "Early closure of the fontanelles": "HP:0005458", + "Obliterated fontanelles": "HP:0005458", + "Premature fontanel closure": "HP:0005458", + "Early closure of the bregma sutures": "HP:0005458", + "Premature closure of the bregma sutures": "HP:0005458", + "Craniofacial disproportion": "HP:0005461", + "Calcification of falx cerebri": "HP:0005462", + "Elongated sella turcica": "HP:0005463", + "Craniofacial osteosclerosis": "HP:0005464", + "Cranial sclerosis": "HP:0005464", + "Facial hyperostosis": "HP:0005465", + "Enlargement of facial bones": "HP:0005465", + "Enlargement of facial skeleton": "HP:0005465", + "Hypertrophy of facial bones": "HP:0005465", + "Hypertrophy of facial skeleton": "HP:0005465", + "Enlargement of the facial bones": "HP:0005465", + "Excessive growth of facial bones": "HP:0005465", + "Excessive growth of facial skeleton": "HP:0005465", + "Hyperostosis of facial bones": "HP:0005465", + "Hyperostosis of facial skeleton": "HP:0005465", + "Hypertrophy of the facial bones": "HP:0005465", + "Increase in size of the facial bones": "HP:0005465", + "Overgrowth of facial bones": "HP:0005465", + "Overgrowth of facial skeleton": "HP:0005465", + "Overgrowth of the facial bones": "HP:0005465", + "Increased ossification of facial bones": "HP:0005465", + "Increased ossification of facial skeleton": "HP:0005465", + "Hypoplasia of the frontal bone": "HP:0005466", + "Decreased size of bone of forehead": "HP:0005466", + "Hypoplastic frontal bones": "HP:0005466", + "Small bone of forehead": "HP:0005466", + "Underdevelopment of bone of forehead": "HP:0005466", + "Hypotrophic frontal bone": "HP:0005466", + "Hypotrophic frontal bones": "HP:0005466", + "Thin bone of forehead": "HP:0005466", + "Flat occiput": "HP:0005469", + "Flat back of skull": "HP:0005469", + "Flat back of the head": "HP:0005469", + "Flat back of the skull": "HP:0005469", + "Flat posterior head": "HP:0005469", + "Flat posterior cranium": "HP:0005469", + "Posterior flattening of the skull": "HP:0005469", + "Orbital craniosynostosis": "HP:0005472", + "Fusion of middle ear ossicles": "HP:0005473", + "Fused ossicles": "HP:0005473", + "Decreased calvarial ossification": "HP:0005474", + "Poorly ossified calvaria": "HP:0005474", + "Poorly ossified calvarium": "HP:0005474", + "Soft calvaria": "HP:0005474", + "Soft skullcap": "HP:0005474", + "Undermineralized calvarium": "HP:0005474", + "Skull soft on palpation": "HP:0005474", + "Widely patent sagittal suture": "HP:0005476", + "Progressive sclerosis of skull base": "HP:0005477", + "Prominent frontal sinuses": "HP:0005478", + "Large frontal sinus": "HP:0005478", + "Hyperplasia of frontal sinus": "HP:0005478", + "Hypertrophy of frontal sinus": "HP:0005478", + "Increased size of frontal sinus": "HP:0005478", + "Increased volume of frontal sinus": "HP:0005478", + "Decreased circulating IgE concentration": "HP:0005479", + "Decreased IgE": "HP:0005479", + "Decreased circulating IgE": "HP:0005479", + "IgE deficiency": "HP:0005479", + "Abnormality of the alternative complement pathway": "HP:0005482", + "Abnormal epiglottis morphology": "HP:0005483", + "Abnormality of the epiglottis": "HP:0005483", + "Secondary microcephaly": "HP:0005484", + "Development of small head that was not present at birth": "HP:0005484", + "Acquired microcephaly": "HP:0005484", + "Deceleration of head growth": "HP:0005484", + "Microcephaly, acquired": "HP:0005484", + "Microcephaly, postnatal": "HP:0005484", + "Postnatal deceleration of head circumference": "HP:0005484", + "Postnatal microcephaly": "HP:0005484", + "Small fontanelle": "HP:0005486", + "Little cranial sutures": "HP:0005486", + "Small cranial sutures": "HP:0005486", + "Little fontanelle": "HP:0005486", + "Microfontanelle": "HP:0005486", + "Small soft spot": "HP:0005486", + "Small bregma sutures": "HP:0005486", + "Prominent metopic ridge": "HP:0005487", + "Prominent frontal ridge": "HP:0005487", + "Prominent metopic suture": "HP:0005487", + "Ridging of metopic suture": "HP:0005487", + "Prominent frontal suture": "HP:0005487", + "Ridging of frontal suture": "HP:0005487", + "Postnatal macrocephaly": "HP:0005490", + "Macrocephaly, postnatal": "HP:0005490", + "Premature posterior fontanelle closure": "HP:0005494", + "Metopic suture patent to nasal root": "HP:0005495", + "Midline skin dimples over anterior/posterior fontanelles": "HP:0005498", + "Increased red cell osmotic fragility": "HP:0005502", + "Increased erythrocyte osmotic fragility": "HP:0005502", + "Increased red cell fragility": "HP:0005502", + "Refractory anemia": "HP:0005505", + "Refractory anaemia": "HP:0005505", + "Chronic myelogenous leukemia": "HP:0005506", + "Chronic myelocytic leukaemia": "HP:0005506", + "Chronic myelocytic leukemia": "HP:0005506", + "Chronic myelogenous leukaemia": "HP:0005506", + "Chronic myeloid leukaemia": "HP:0005506", + "Chronic myeloid leukemia": "HP:0005506", + "Hemoglobin Barts": "HP:0005507", + "Haemoglobin Barts": "HP:0005507", + "Hb Barts": "HP:0005507", + "Monoclonal immunoglobulin M proteinemia": "HP:0005508", + "Waldenstrom macroglobulinemia": "HP:0005508", + "Transient erythroblastopenia": "HP:0005510", + "Transient decrease in blood erythrocyte number": "HP:0005510", + "Heinz body anemia": "HP:0005511", + "Heinz body anaemia": "HP:0005511", + "Impaired neutrophil killing of staphylococci": "HP:0005512", + "Increased megakaryocyte count": "HP:0005513", + "T-cell lymphoma/leukemia": "HP:0005517", + "Increased mean corpuscular volume": "HP:0005518", + "Erythrocyte macrocytosis": "HP:0005518", + "Increased MCV": "HP:0005518", + "Chronic disseminated intravascular coagulation": "HP:0005520", + "Chronic consumption coagulopathy": "HP:0005520", + "Compensated disseminated intravascular coagulation": "HP:0005520", + "Disseminated intravascular coagulation": "HP:0005521", + "Pyridoxine-responsive sideroblastic anemia": "HP:0005522", + "Pyridoxine-responsive sideroblastic anaemia": "HP:0005522", + "Lymphoproliferative disorder": "HP:0005523", + "Lymphoproliferative disorders": "HP:0005523", + "Macrocytic hemolytic disease": "HP:0005524", + "Spontaneous hemolytic crises": "HP:0005525", + "Lymphoid leukemia": "HP:0005526", + "Lymphoid leukaemia": "HP:0005526", + "Reduced kininogen activity": "HP:0005527", + "Fitzgerald factor deficiency": "HP:0005527", + "Kininogen deficiency": "HP:0005527", + "Williams factor deficiency": "HP:0005527", + "Williams-Fitzgerald-Flaujeac factor deficiency": "HP:0005527", + "Bone marrow hypocellularity": "HP:0005528", + "Bone marrow failure": "HP:0005528", + "Bone marrow hypoplasia": "HP:0005528", + "Hypoplastic bone marrow": "HP:0005528", + "Myeloid hypoplasia": "HP:0005528", + "Biphenotypic acute leukemia": "HP:0005531", + "Acute biphenotypic leukaemia": "HP:0005531", + "Biphenotypic acute leukaemia": "HP:0005531", + "Myeloid/lymphoid leukaemia": "HP:0005531", + "Myeloid/lymphoid leukemia": "HP:0005531", + "Macrocytic dyserythropoietic anemia": "HP:0005532", + "Macrocytic dyserythropoietic anaemia": "HP:0005532", + "Transient myeloproliferative syndrome": "HP:0005534", + "TMD": "HP:0005534", + "Transient leukaemia of Down syndrome": "HP:0005534", + "Transient leukemia of Down syndrome": "HP:0005534", + "Transient myeloproliferative disorder": "HP:0005534", + "Exercise-induced hemolysis": "HP:0005535", + "Decreased mean platelet volume": "HP:0005537", + "Small platelet size": "HP:0005537", + "Small platelets": "HP:0005537", + "Small platelets size": "HP:0005537", + "T cell chronic lymphocytic lymphoma/leukemia": "HP:0005539", + "Red blood cell keratocytosis": "HP:0005540", + "Distorted red blood cells resembling keratocytes": "HP:0005540", + "RBC keratocytosis": "HP:0005540", + "Congenital agranulocytosis": "HP:0005541", + "Prolonged whole-blood clotting time": "HP:0005542", + "Prolonged clotting time": "HP:0005542", + "Reduced protein C activity": "HP:0005543", + "Protein C deficiency": "HP:0005543", + "Increased red cell osmotic resistance": "HP:0005546", + "Myeloproliferative disorder": "HP:0005547", + "Megakaryocytopenia": "HP:0005548", + "Megakaryocytes decreased im bone marrow": "HP:0005548", + "obsolete Congenital neutropenia": "HP:0005549", + "Chronic lymphatic leukemia": "HP:0005550", + "Chronic lymphatic leukaemia": "HP:0005550", + "Chronic lymphocytic leukaemia": "HP:0005550", + "Chronic lymphocytic leukemia": "HP:0005550", + "Abnormality of the metopic suture": "HP:0005556", + "Abnormal zygomatic arch morphology": "HP:0005557", + "Abnormality of the malar arch": "HP:0005557", + "Abnormality of the zygomatic arch": "HP:0005557", + "Anomaly of the malar arch": "HP:0005557", + "Anomaly of the zygomatic arch": "HP:0005557", + "Deformity of the malar arch": "HP:0005557", + "Deformity of the zygomatic arch": "HP:0005557", + "Malformation of the malar arch": "HP:0005557", + "Malformation of the zygomatic arch": "HP:0005557", + "Chronic leukemia": "HP:0005558", + "Chronic blood cancer": "HP:0005558", + "Chronic leukaemia": "HP:0005558", + "Abnormality of the kinin-kallikrein system": "HP:0005559", + "Imbalanced hemoglobin synthesis": "HP:0005560", + "Imbalanced Hb synthesis": "HP:0005560", + "Imbalanced haemoglobin synthesis": "HP:0005560", + "Abnormal bone marrow cell morphology": "HP:0005561", + "Abnormality of bone marrow cell morphology": "HP:0005561", + "Anomaly of the bone marrow cells": "HP:0005561", + "Bone marrow disease": "HP:0005561", + "Multiple renal cysts": "HP:0005562", + "Multiple kidney cysts": "HP:0005562", + "Decreased numbers of nephrons": "HP:0005563", + "Oligonephronia": "HP:0005563", + "Decreased numbers of glomeruli": "HP:0005563", + "Absence of renal corticomedullary differentiation": "HP:0005564", + "Absent renal corticomedullary differentiation": "HP:0005564", + "Loss of corticomedullary differentiation": "HP:0005564", + "Reduced renal corticomedullary differentiation": "HP:0005565", + "Loss of definition of corticomedullary differentiation": "HP:0005565", + "Renal magnesium wasting": "HP:0005567", + "Increased renal tubular phosphate reabsorption": "HP:0005571", + "Increased percent tubular reabsorption of phosphorus": "HP:0005571", + "Decreased renal tubular phosphate excretion": "HP:0005572", + "Non-acidotic proximal tubulopathy": "HP:0005574", + "Hemolytic-uremic syndrome": "HP:0005575", + "Hemolytic uremic syndrome": "HP:0005575", + "Tubulointerstitial fibrosis": "HP:0005576", + "Tubulointerstitial renal fibrosis": "HP:0005576", + "Tubulointerstitial scarring": "HP:0005576", + "Impaired renal tubular reabsorption of chloride": "HP:0005579", + "Impaired reabsorption of Cl": "HP:0005579", + "Impaired reabsorption of Cl-": "HP:0005579", + "Duplication of renal pelvis": "HP:0005580", + "Tubular basement membrane disintegration": "HP:0005583", + "Disintegration of the tubular basement membrane": "HP:0005583", + "Renal cell carcinoma": "HP:0005584", + "Cancer starting in small tubes in kidneys": "HP:0005584", + "Hypernephroma": "HP:0005584", + "Renal carcinoma": "HP:0005584", + "Spotty hyperpigmentation": "HP:0005585", + "Patchy hyperpigmentation": "HP:0005585", + "Spotty increased pigmentation": "HP:0005585", + "Hyperpigmentation in sun-exposed areas": "HP:0005586", + "Hyperpigmentation of exposed areas": "HP:0005586", + "Increased pigmentation in sun-exposed areas": "HP:0005586", + "Profuse pigmented skin lesions": "HP:0005587", + "Patchy palmoplantar hyperkeratosis": "HP:0005588", + "Palmoplantar keratoderma, patchy": "HP:0005588", + "Patchy palmoplantar keratoderma": "HP:0005588", + "Spotty hypopigmentation": "HP:0005590", + "Patchy depigmentation": "HP:0005590", + "Patchy hypopigmentation": "HP:0005590", + "Spotty decreased pigmentation": "HP:0005590", + "Giant melanosomes in melanocytes": "HP:0005592", + "Macromelanosomes": "HP:0005592", + "Macular hypopigmented whorls, streaks, and patches": "HP:0005593", + "Generalized hyperkeratosis": "HP:0005595", + "Generalised hyperkeratosis": "HP:0005595", + "Hyperkeratosis, generalised": "HP:0005595", + "Hyperkeratosis, generalized": "HP:0005595", + "Congenital alopecia totalis": "HP:0005597", + "Facial telangiectasia in butterfly midface distribution": "HP:0005598", + "Butterfly facial telangiectasia": "HP:0005598", + "Hypopigmentation of hair": "HP:0005599", + "Hair hypopigmentation": "HP:0005599", + "Loss of hair color": "HP:0005599", + "Loss of hair colour": "HP:0005599", + "Congenital giant melanocytic nevus": "HP:0005600", + "Giant pigmented hairy nevus": "HP:0005600", + "Giant pigmented mole": "HP:0005600", + "Giant pigmented nevus": "HP:0005600", + "Progressive vitiligo": "HP:0005602", + "Numerous congenital melanocytic nevi": "HP:0005603", + "Large cafe-au-lait macules with irregular margins": "HP:0005605", + "Hyperpigmented nevi and streak": "HP:0005606", + "Abnormal tracheobronchial morphology": "HP:0005607", + "Tracheobronchial anomalies": "HP:0005607", + "Bilobate gallbladder": "HP:0005608", + "Bilobed gallbladder": "HP:0005608", + "Double gallbladder": "HP:0005608", + "Gallbladder duplication": "HP:0005608", + "Gallbladder septated": "HP:0005608", + "Gallbladder dysfunction": "HP:0005609", + "Arthrogryposis-like hand anomaly": "HP:0005612", + "Aplasia/hypoplasia of the femur": "HP:0005613", + "Absent/small thighbone": "HP:0005613", + "Absent/underdeveloped thighbone": "HP:0005613", + "Hypoplastic to absent femora": "HP:0005613", + "Hypoplastic/aplastic femora": "HP:0005613", + "Accelerated skeletal maturation": "HP:0005616", + "Advanced bone age": "HP:0005616", + "Early bone maturation": "HP:0005616", + "Bilateral camptodactyly": "HP:0005617", + "Thoracolumbar kyphosis": "HP:0005619", + "Thoracolumbar gibbus": "HP:0005619", + "Thoracolumbar gibbus deformity": "HP:0005619", + "Hypermobility of interphalangeal joints": "HP:0005620", + "Increased mobility of hinge joints": "HP:0005620", + "Trapezoidal vertebral body": "HP:0005621", + "Trapezoidal shaped vertebral bodies": "HP:0005621", + "Trapezoidal vertebral bodies": "HP:0005621", + "Broad long bones": "HP:0005622", + "Wide long bones": "HP:0005622", + "Widened long bones": "HP:0005622", + "Absent ossification of calvaria": "HP:0005623", + "Absent bone maturation of skullcap": "HP:0005623", + "Absent ossification of skull vault": "HP:0005623", + "Acalvaria": "HP:0005623", + "Osteoporosis of vertebrae": "HP:0005625", + "Posterior fusion of lumbosacral vertebrae": "HP:0005626", + "Type D brachydactyly": "HP:0005627", + "Brachydactyly type D": "HP:0005627", + "Absent forearm": "HP:0005632", + "Absent forearms": "HP:0005632", + "Decreased anterioposterior diameter of lumbar vertebral bodies": "HP:0005638", + "Hyperextensible hand joints": "HP:0005639", + "Abnormal vertebral segmentation and fusion": "HP:0005640", + "Short 3rd toe": "HP:0005643", + "Brachydactyly of third toes": "HP:0005643", + "Short third toe": "HP:0005643", + "Intervertebral disk calcification": "HP:0005645", + "Intervertebral disc calcification": "HP:0005645", + "Multiple intervertebral disc calcifications": "HP:0005645", + "Multiple intervertebral disk calcifications": "HP:0005645", + "Bilateral ulnar hypoplasia": "HP:0005648", + "2-5 finger cutaneous syndactyly": "HP:0005650", + "Cutaneous syndactyly between fingers 2 and 5": "HP:0005650", + "Webbed 2nd-5th fingers": "HP:0005650", + "Cortical sclerosis": "HP:0005652", + "Moderate generalized osteoporosis": "HP:0005653", + "Moderate generalised osteoporosis": "HP:0005653", + "Multiple digital exostoses": "HP:0005655", + "Positional foot deformity": "HP:0005656", + "Thoracic kyphoscoliosis": "HP:0005659", + "Salmonella osteomyelitis": "HP:0005661", + "Salmonella bone infection": "HP:0005661", + "Massively thickened long bone cortices": "HP:0005665", + "Os odontoideum": "HP:0005667", + "Bilateral intracerebral calcifications": "HP:0005671", + "Bilateral intracranial calcifications": "HP:0005671", + "Rudimentary postaxial polydactyly of hands": "HP:0005676", + "Anterior atlanto-occipital dislocation": "HP:0005678", + "Dupuytren contracture": "HP:0005679", + "Tongue-like lumbar vertebral deformities": "HP:0005680", + "Juvenile rheumatoid arthritis": "HP:0005681", + "Juvenile RA": "HP:0005681", + "Juvenile idiopathic arthritis": "HP:0005681", + "Rheumatoid arthritis, juvenile": "HP:0005681", + "Talocalcaneal synostosis": "HP:0005682", + "Fusion of foot joint": "HP:0005682", + "Fusion of the subtalar joint": "HP:0005682", + "Distal arthrogryposis": "HP:0005684", + "Patchy osteosclerosis": "HP:0005686", + "Patchy increase of bone mineral density": "HP:0005686", + "Uneven increase in bone density": "HP:0005686", + "Deformed humeral heads": "HP:0005687", + "Deformed head of long bone in upper arm": "HP:0005687", + "Dysplastic distal thumb phalanges with a central hole": "HP:0005688", + "Dermatoglyphic ridges abnormal": "HP:0005689", + "obsolete Joint hyperflexibility": "HP:0005692", + "Partial fusion of proximal row of carpal bones": "HP:0005694", + "Partial fusion of innermost row of wrist bones": "HP:0005694", + "Postaxial polydactyly type A": "HP:0005696", + "Increased bone density with cystic changes": "HP:0005700", + "Multiple enchondromatosis": "HP:0005701", + "Bilateral triphalangeal thumbs": "HP:0005707", + "Bilateral digitalized thumb": "HP:0005707", + "2-3 toe cutaneous syndactyly": "HP:0005709", + "Complete cutaneous syndactyly of second and third toes": "HP:0005709", + "Cutaneous 2,3 toe syndactyly": "HP:0005709", + "Cutaneous syndactyly of second and third toes": "HP:0005709", + "Webbed skin of 2nd-3rd toes": "HP:0005709", + "Flattened knee epiphyses": "HP:0005715", + "Flattened end part of knee bone": "HP:0005715", + "Lethal skeletal dysplasia": "HP:0005716", + "Lethal dwarfism identifiable at birth": "HP:0005716", + "Shortening of all metacarpals": "HP:0005720", + "Hyperextensible thumb": "HP:0005722", + "Double jointed thumb": "HP:0005722", + "Shoe-shaped sella turcica": "HP:0005723", + "Nonopposable triphalangeal thumb": "HP:0005725", + "Thumbs hypoplastic with bulbous tips": "HP:0005726", + "Short thumbs with bulbous tips": "HP:0005726", + "Cortical irregularity": "HP:0005731", + "Spinal stenosis with reduced interpedicular distance": "HP:0005733", + "Spinal stenosis due to short pedicles": "HP:0005733", + "Short tibia": "HP:0005736", + "Hypoplasia of the tibia": "HP:0005736", + "Hypoplastic tibia": "HP:0005736", + "Short shinbone": "HP:0005736", + "Short skankbone": "HP:0005736", + "Short tibiae": "HP:0005736", + "Shortening of the shankbone": "HP:0005736", + "Shortening of the shinbone": "HP:0005736", + "Shortening of the tibia": "HP:0005736", + "Posterior subluxation of radial head": "HP:0005739", + "Avascular necrosis of the capital femoral epiphysis": "HP:0005743", + "Osteochondrosis of the femoral head": "HP:0005743", + "Osteonecrosis of the femoral head": "HP:0005743", + "Perthes-like femoral head changes": "HP:0005743", + "Coxa plana": "HP:0005743", + "Legg-Calve-Perthes syndrome": "HP:0005743", + "Legg-Perthes disease": "HP:0005743", + "Morbus Legg-Calve-Perthes": "HP:0005743", + "obsolete Generalized osteoporosis with pathologic fractures": "HP:0005744", + "Congenital foot contractures": "HP:0005745", + "Osteosclerosis of the base of the skull": "HP:0005746", + "Osteosclerosis of the skull base": "HP:0005746", + "Easily subluxated first metacarpophalangeal joints": "HP:0005747", + "Lower-limb joint contracture": "HP:0005750", + "Contractures of the joints of the lower limbs": "HP:0005750", + "Contractures, lower limbs": "HP:0005750", + "Flattened moderately deformed vertebrae": "HP:0005752", + "Neonatal epiphyseal stippling": "HP:0005756", + "Epiphyseal stippling in neonates": "HP:0005756", + "Speckled calcifications in bone end parts in neonates": "HP:0005756", + "Basilar impression": "HP:0005758", + "Small flat posterior fossa": "HP:0005759", + "Small and flat posterior fossa of skull": "HP:0005759", + "Small and flat posterior skull bones": "HP:0005759", + "Polyarticular arthritis": "HP:0005764", + "Sacral meningocele": "HP:0005765", + "Disproportionate shortening of the tibia": "HP:0005766", + "Disproportionate shortening of the shankbone": "HP:0005766", + "Disproportionate shortening of the shinbone": "HP:0005766", + "Marked shortening of tibia": "HP:0005766", + "1-2 toe complete cutaneous syndactyly": "HP:0005767", + "2-4 toe cutaneous syndactyly": "HP:0005768", + "Soft tissue syndactyly of toes 2, 3, and 4": "HP:0005768", + "Webbed 2nd, 3rd and 4th toes": "HP:0005768", + "Webbed second, third and fourth toes": "HP:0005768", + "Fifth finger distal phalanx clinodactyly": "HP:0005769", + "Curvature of outermost bone of little finger": "HP:0005769", + "Curvature of outermost bone of pinkie finger": "HP:0005769", + "Curvature of outermost bone of pinky finger": "HP:0005769", + "Aplasia/Hypoplasia of the tibia": "HP:0005772", + "Absent/hypoplastic tibia": "HP:0005772", + "Absent/small shankbone": "HP:0005772", + "Absent/small shinbone": "HP:0005772", + "Absent/underdeveloped shankbone": "HP:0005772", + "Absent/underdeveloped shinbone": "HP:0005772", + "Aplastic/hypoplastic tibia": "HP:0005772", + "Short forearm": "HP:0005773", + "Hypoplasia of both radius and ulna": "HP:0005773", + "Multiple skeletal anomalies": "HP:0005775", + "Carpal bone malsegmentation": "HP:0005776", + "Absent fourth finger distal interphalangeal crease": "HP:0005780", + "No fourth finger distal interphalangeal crease": "HP:0005780", + "Contractures of the large joints": "HP:0005781", + "Lumbar platyspondyly": "HP:0005787", + "Abnormal cervical myelogram": "HP:0005788", + "Generalized osteosclerosis": "HP:0005789", + "Increased bone density in skeletal bones": "HP:0005789", + "Diffuse, symmetrical osteosclerosis": "HP:0005789", + "Generalised osteosclerosis": "HP:0005789", + "Osteosclerosis, diffuse symmetrical": "HP:0005789", + "Short mandibular condyles": "HP:0005790", + "Bilateral hypoplasia of condylar process of mandible": "HP:0005790", + "Bilateral hypoplasia of mandibular condylar head": "HP:0005790", + "Bilateral hypoplasia of mandibular condylar neck": "HP:0005790", + "Decreased height of condylar process of mandible": "HP:0005790", + "Decreased length of condylar process of mandible": "HP:0005790", + "Short condylar process of mandible": "HP:0005790", + "Short condylar head of mandible": "HP:0005790", + "Short condylar neck of mandible": "HP:0005790", + "Cortical thickening of long bone diaphyses": "HP:0005791", + "Short humerus": "HP:0005792", + "Humeral hypoplasia": "HP:0005792", + "Humeral shortening": "HP:0005792", + "Hypoplastic humerus": "HP:0005792", + "Short humeri": "HP:0005792", + "Short long bone of upper arm": "HP:0005792", + "Short upper arms": "HP:0005792", + "Shortening of all distal phalanges of the toes": "HP:0005793", + "Shortening of all outermost bone of the toes": "HP:0005793", + "obsolete Arterial disease of legs": "HP:0005794", + "Posterior radial head dislocation": "HP:0005798", + "Coalescence of tarsal bones": "HP:0005802", + "Absent distal phalanges": "HP:0005807", + "Absent outermost digital bones": "HP:0005807", + "Supernumerary ribs": "HP:0005815", + "Extra ribs": "HP:0005815", + "Postaxial polysyndactyly of foot": "HP:0005817", + "Short middle phalanx of finger": "HP:0005819", + "Brachymesophalangy": "HP:0005819", + "Disproportionately short middle phalanges": "HP:0005819", + "Hypoplasia of the middle phalanges of the hand": "HP:0005819", + "Hypoplastic middle phalanges": "HP:0005819", + "Hypoplastic middle phalanx": "HP:0005819", + "Midphalangeal hypoplasia": "HP:0005819", + "Short middle bone of finger": "HP:0005819", + "Short middle phalanges": "HP:0005819", + "Shortened middle finger bones": "HP:0005819", + "Superior rib anomalies": "HP:0005820", + "Clinodactyly of the 2nd toe": "HP:0005824", + "Curvature of 2nd toe": "HP:0005824", + "Clinodactyly of second toes": "HP:0005824", + "Mixed sclerosis of humeral metaphyses": "HP:0005825", + "Transient pulmonary infiltrates": "HP:0005828", + "Maldevelopment of radioulnar joint": "HP:0005829", + "Flexion contracture of toe": "HP:0005830", + "Contractures involving the toes": "HP:0005830", + "Contractures of the toes": "HP:0005830", + "Toe contractures": "HP:0005830", + "Type B brachydactyly": "HP:0005831", + "Dysharmonic delayed bone age": "HP:0005832", + "obsolete Joint swelling onset late infancy": "HP:0005833", + "obsolete Thumbs hypo/aplastic": "HP:0005834", + "obsolete Joint dislocations in young adult": "HP:0005837", + "Calcific stippling of infantile cartilaginous skeleton": "HP:0005841", + "Rounded middle phalanx of finger": "HP:0005844", + "Rounded middle bone of finger": "HP:0005844", + "obsolete Bifid thumb distal phalanx": "HP:0005848", + "Diffuse cerebral calcification": "HP:0005849", + "Congenital talipes calcaneovalgus": "HP:0005850", + "Limited elbow extension and supination": "HP:0005852", + "Congenital foot contraction deformities": "HP:0005853", + "Multiple prenatal fractures": "HP:0005855", + "Congenital bone fractures": "HP:0005855", + "Multiple fractures present at birth": "HP:0005855", + "Multiple fractures, present at birth": "HP:0005855", + "Numerous multiple fractures present at birth": "HP:0005855", + "Numerous multiple fractures that are present at birth": "HP:0005855", + "Ulnar radial head dislocation": "HP:0005856", + "Ulnar dislocation of radial heads": "HP:0005856", + "Cervical spina bifida": "HP:0005857", + "Type E brachydactyly": "HP:0005863", + "Pseudoarthrosis": "HP:0005864", + "Pseudoarthroses": "HP:0005864", + "Opposable triphalangeal thumb": "HP:0005866", + "4-5 metacarpal synostosis": "HP:0005867", + "Fused 4th-5th long bones of hand": "HP:0005867", + "Fused 4th-5th metacarpals": "HP:0005867", + "Fused fourth and fifth metacarpals": "HP:0005867", + "Ring finger and little finger metacarpal synostosis": "HP:0005867", + "Synostosis of the fourth and fifth metacarpal bones": "HP:0005867", + "Metaphyseal enchondromatosis": "HP:0005868", + "Metaphyseal chondrodysplasia": "HP:0005871", + "Brachytelomesophalangy": "HP:0005872", + "Progressive brachydactyly of middle and distal phalanges": "HP:0005872", + "Short middle and distal phalanges of digits ii through v": "HP:0005872", + "Polysyndactyly of hallux": "HP:0005873", + "Polysyndactyly of big toe": "HP:0005873", + "Polysyndactyly of great toe": "HP:0005873", + "Increased dermatoglyphic whorls": "HP:0005875", + "Progressive flexion contractures": "HP:0005876", + "Joint contractures, progressive": "HP:0005876", + "Multiple small vertebral fractures": "HP:0005877", + "Enlarged sagittal diameter of the cervical canal": "HP:0005878", + "Congenital finger flexion contractures": "HP:0005879", + "Congenital finger contractures": "HP:0005879", + "Metacarpophalangeal synostosis": "HP:0005880", + "Fused long bone of hand with innermost finger bone": "HP:0005880", + "Spinal instability": "HP:0005881", + "Dermatoglyphic variants": "HP:0005882", + "Absent ossification of cervical vertebral bodies": "HP:0005885", + "Aphalangy of the hands": "HP:0005886", + "Hyperostosis cranialis interna": "HP:0005890", + "Enlargement of the inner surface of the skull bones": "HP:0005890", + "Hypertrophy of the internal surface of the cranial bones": "HP:0005890", + "Increased ossification of the internal surface of the cranial bones": "HP:0005890", + "Overgrowth of the inside of the skull": "HP:0005890", + "Thick inner surface of the skull bones": "HP:0005890", + "Thick internal surface of the cranial bones": "HP:0005890", + "Excessive growth of inner surface of the skull bones": "HP:0005890", + "Hyperostosis of the internal surface of the cranial bone": "HP:0005890", + "Hyperostosis of the internal surface of the cranial bones": "HP:0005890", + "Overgrowth of the inner surface of the skull bones": "HP:0005890", + "Progressive forearm bowing": "HP:0005891", + "Progressive forearm curvature": "HP:0005891", + "Proximal tibial and fibular fusion": "HP:0005892", + "Fusion of innermost shinbone and calf bone": "HP:0005892", + "Proximal tibiofibular synostosis": "HP:0005892", + "Double first metacarpals": "HP:0005894", + "Double 1st long bones of hand": "HP:0005894", + "Radial deviation of thumb terminal phalanx": "HP:0005895", + "Severe generalized osteoporosis": "HP:0005897", + "Severe generalised osteoporosis": "HP:0005897", + "Severe, generalised osteoporosis": "HP:0005897", + "Severe, generalized osteoporosis": "HP:0005897", + "obsolete Metaphyseal dysostosis": "HP:0005899", + "Fifth metacarpal with ulnar notch": "HP:0005900", + "Fifth metacarpal notched on ulnar side": "HP:0005900", + "obsolete Chronic recurrent multifocal osteomyelitis": "HP:0005901", + "Abnormal cervical curvature": "HP:0005905", + "Abnormal neck curve": "HP:0005905", + "Delayed pneumatization of the mastoid process": "HP:0005906", + "Mastoid processes poorly pneumatized": "HP:0005906", + "Rhomboid or triangular shaped 5th finger middle phalanx": "HP:0005910", + "Rhomboid or triangular shaped fifth finger middle phalanx": "HP:0005910", + "Biliary atresia": "HP:0005912", + "Atresia of bile ducts": "HP:0005912", + "Biliary duct atresia": "HP:0005912", + "Abnormal metacarpal epiphysis morphology": "HP:0005913", + "Abnormality of end part of long bone of hand": "HP:0005913", + "Abnormality of metacarpal epiphyses": "HP:0005913", + "Aplasia/Hypoplasia involving the metacarpal bones": "HP:0005914", + "Absent or hypoplastic metacarpals": "HP:0005914", + "Absent/small long bones of hand": "HP:0005914", + "Absent/underdeveloped long bones of hand": "HP:0005914", + "Aplastic/hypoplastic metacarpals": "HP:0005914", + "Hypoplastic metacarpals": "HP:0005914", + "Hypoplastic/absent metacarpal bones": "HP:0005914", + "Hypoplastic/absent metacarpals": "HP:0005914", + "Metacarpal aplasia/hypoplasia": "HP:0005914", + "Abnormal metacarpal morphology": "HP:0005916", + "Abnormal shape of long bones of hand": "HP:0005916", + "Abnormal shape of metacarpal bones": "HP:0005916", + "Supernumerary metacarpal bones": "HP:0005917", + "Extra long bones of hand": "HP:0005917", + "Abnormal finger phalanx morphology": "HP:0005918", + "Abnormal form of phalanges of the hand": "HP:0005918", + "Abnormality of phalanx of finger": "HP:0005918", + "Abnormality of the finger bones": "HP:0005918", + "Abnormality of the phalanges": "HP:0005918", + "Abnormality of the phalanges of the hand": "HP:0005918", + "Abnormal epiphysis morphology of the phalanges of the hand": "HP:0005920", + "obsolete Abnormal ossification of hand bones": "HP:0005921", + "Abnormal hand morphology": "HP:0005922", + "Abnormal shape of hand": "HP:0005922", + "Abnormal hand metaphysis morphology": "HP:0005923", + "Abnormalities of the metaphyses of the hand": "HP:0005923", + "Abnormality of the wide portion of the hand bone": "HP:0005923", + "Abnormal hand epiphysis morphology": "HP:0005924", + "Abnormality of the end part of the hand bone": "HP:0005924", + "Abnormality of the end part of the hand bones": "HP:0005924", + "Abnormality of the epiphyses of the fingers": "HP:0005924", + "Abnormality of the epiphyses of the hand": "HP:0005924", + "Abnormality of the epiphyses of the phalanges of the hand": "HP:0005924", + "Abnormal hand diaphysis morphology": "HP:0005925", + "Abnormalities of shaft of long bone of the hand": "HP:0005925", + "Abnormalities of the diaphyses of the hand": "HP:0005925", + "Abnormal hand cortical bone morphology": "HP:0005926", + "Abnormality of hand cortical bone": "HP:0005926", + "Abnormality of the cortex of hand bones": "HP:0005926", + "Aplasia/hypoplasia involving bones of the hand": "HP:0005927", + "Absent/small hand bones": "HP:0005927", + "Absent/underdeveloped hand bones": "HP:0005927", + "Hypoplasia/absence of hand bones": "HP:0005927", + "Synostosis involving the fibula": "HP:0005928", + "Bone fusion involving the calf bones": "HP:0005928", + "Synostosis involving the tibia": "HP:0005929", + "Bone fusion involving the shinbone": "HP:0005929", + "Abnormal epiphysis morphology": "HP:0005930", + "Abnormal shape of end part of bone": "HP:0005930", + "Abnormality of epiphysis morphology": "HP:0005930", + "Abnormality of the epiphyses": "HP:0005930", + "Anomaly of the epiphyses": "HP:0005930", + "Epiphyseal abnormality": "HP:0005930", + "Abnormal renal corticomedullary differentiation": "HP:0005932", + "Imperfect vocal cord adduction": "HP:0005934", + "Abnormal respiratory motile cilium morphology": "HP:0005938", + "Multiple bilateral pneumothoraces": "HP:0005939", + "Intermittent hyperpnea at rest": "HP:0005941", + "Desquamative interstitial pneumonitis": "HP:0005942", + "Filling of the alveoli with alveolar macrophages": "HP:0005942", + "Filling of the alveoli with desquamated epithelial cells": "HP:0005942", + "Intra-alveolar accumulation of macrophages": "HP:0005942", + "Respiratory arrest": "HP:0005943", + "Breathing cessation": "HP:0005943", + "Bilateral lung agenesis": "HP:0005944", + "Absent lungs": "HP:0005944", + "Bilateral pulmonary agenesis": "HP:0005944", + "Laryngeal obstruction": "HP:0005945", + "Ventilator dependence with inability to wean": "HP:0005946", + "Decreased sensitivity to hypoxemia": "HP:0005947", + "Decreased sensitivity to hypoxaemia": "HP:0005947", + "Multiple pulmonary cysts": "HP:0005948", + "Cystic lung disease": "HP:0005948", + "Multiple lung cysts": "HP:0005948", + "Apneic episodes in infancy": "HP:0005949", + "Laryngeal web": "HP:0005950", + "Laryngeal webs": "HP:0005950", + "Partial laryngeal atresia": "HP:0005950", + "Glottic web": "HP:0005950", + "Progressive inspiratory stridor": "HP:0005951", + "obsolete Decreased pulmonary function": "HP:0005952", + "Pulmonary capillary hemangiomatosis": "HP:0005954", + "Pulmonary hemangiomas": "HP:0005954", + "Anteroposteriorly shortened larynx": "HP:0005956", + "Breathing dysregulation": "HP:0005957", + "Impaired gluconeogenesis": "HP:0005959", + "Gluconeogenesis impaired": "HP:0005959", + "Hypoargininemia": "HP:0005961", + "Low blood arginine levels": "HP:0005961", + "Arginine deficiency": "HP:0005961", + "Intermittent hypothermia": "HP:0005964", + "Intermittent abnormally low body temperature": "HP:0005964", + "Mixed respiratory and metabolic acidosis": "HP:0005967", + "Temperature instability": "HP:0005968", + "Body temperature instability": "HP:0005968", + "Respiratory acidosis": "HP:0005972", + "Fructose intolerance": "HP:0005973", + "Fructose malabsorption": "HP:0005973", + "Episodic ketoacidosis": "HP:0005974", + "Ketoacidosis, episodic": "HP:0005974", + "Hyperkalemic metabolic acidosis": "HP:0005976", + "Hypochloremic metabolic alkalosis": "HP:0005977", + "Type II diabetes mellitus": "HP:0005978", + "Diabetes mellitus Type II": "HP:0005978", + "Diabetes mellitus, noninsulin-dependent": "HP:0005978", + "NIDDM": "HP:0005978", + "NIDDM diabetes mellitus": "HP:0005978", + "Non-insulin dependent diabetes": "HP:0005978", + "Noninsulin dependent diabetes mellitus": "HP:0005978", + "Noninsulin-dependent diabetes": "HP:0005978", + "Type 2 diabetes": "HP:0005978", + "Type II diabetes": "HP:0005978", + "Diabetes mellitus type 2": "HP:0005978", + "Noninsulin-dependent diabetes mellitus": "HP:0005978", + "Metabolic ketoacidosis": "HP:0005979", + "Starvation ketoacidosis": "HP:0005979", + "Reduced phenylalanine hydroxylase level": "HP:0005982", + "Phenylalanine hydroxylase deficiency": "HP:0005982", + "obsolete Elevated maternal serum alpha-fetoprotein": "HP:0005984", + "Limitation of neck motion": "HP:0005986", + "Limited neck mobility": "HP:0005986", + "Restricted neck movement": "HP:0005986", + "Multinodular goiter": "HP:0005987", + "Multinodular goitre": "HP:0005987", + "Congenital muscular torticollis": "HP:0005988", + "Torticollis, congenital": "HP:0005988", + "Redundant neck skin": "HP:0005989", + "Excess neck skin": "HP:0005989", + "Excess skin over the neck": "HP:0005989", + "Excessive nuchal skin": "HP:0005989", + "Redundant nuchal skin": "HP:0005989", + "Redundant skin folds of neck": "HP:0005989", + "Redundant skin over the neck": "HP:0005989", + "Thyroid hypoplasia": "HP:0005990", + "Hypoplastic thyroid": "HP:0005990", + "Small thyroid gland": "HP:0005990", + "Limited neck flexion": "HP:0005991", + "Limited cervical flexion": "HP:0005991", + "Limited neck flexibility": "HP:0005991", + "Nodular goiter": "HP:0005994", + "Nodular goitre": "HP:0005994", + "Decreased adipose tissue around neck": "HP:0005995", + "Loss of adipose tissue around the neck": "HP:0005995", + "Loss of fat around neck": "HP:0005995", + "Neck joint contracture": "HP:0005997", + "Restricted neck mobility due to contractures": "HP:0005997", + "Restricted neck movement due to contractures": "HP:0005997", + "Ureteral atresia": "HP:0005999", + "Ureteral obstruction": "HP:0006000", + "Hypotrophy of the small hand muscles": "HP:0006006", + "Degeneration of small hand muscles": "HP:0006006", + "Unilateral brachydactyly": "HP:0006008", + "Short digits on one side": "HP:0006008", + "Broad phalanx": "HP:0006009", + "Broad phalanges": "HP:0006009", + "Wide digital bones": "HP:0006009", + "Wide phalanges": "HP:0006009", + "Widened phalanges": "HP:0006009", + "Cuboidal metacarpal": "HP:0006011", + "Short, cube shaped long bone of hand": "HP:0006011", + "Widened metacarpal shaft": "HP:0006012", + "Broad shaft of long bone of hand": "HP:0006012", + "Abnormally shaped carpal bones": "HP:0006014", + "Abnormally shaped wrist bones": "HP:0006014", + "Delayed phalangeal epiphyseal ossification": "HP:0006016", + "Delayed phalangeal epiphyseal bone maturation": "HP:0006016", + "Delayed bone maturation of end part of digital bone": "HP:0006016", + "Reduced proximal interphalangeal joint space": "HP:0006019", + "Decreased space in hinge joint": "HP:0006019", + "Rounded epiphyses": "HP:0006026", + "Rounded end part of bone": "HP:0006026", + "Metaphyseal cupping of metacarpals": "HP:0006028", + "Cupping of wide portion of long bone of hand": "HP:0006028", + "Metacarpal/metaphyseal cupping": "HP:0006028", + "Cone-shaped epiphyses of phalanges 2 to 5": "HP:0006035", + "Cone-shaped end part of digital bones 2 to 5": "HP:0006035", + "Long second metacarpal": "HP:0006040", + "Long 2nd long bone of hand": "HP:0006040", + "Y-shaped metacarpals": "HP:0006042", + "Y-shaped long bone of hand": "HP:0006042", + "Short pointed phalanges": "HP:0006045", + "Short pointed digital bones": "HP:0006045", + "Distal widening of metacarpals": "HP:0006048", + "Wide outermost end of long bone": "HP:0006048", + "Metacarpal periosteal thickening": "HP:0006051", + "Ulnar deviated club hands": "HP:0006055", + "Cone-shaped metacarpal epiphyses": "HP:0006059", + "Cone-shaped end part of long bone": "HP:0006059", + "Metacarpal cone-shaped epiphyses": "HP:0006059", + "Tombstone-shaped proximal phalanges": "HP:0006060", + "Tombstone-shaped innermost digital bones": "HP:0006060", + "Limited interphalangeal movement": "HP:0006064", + "Limited movement of hinge joints": "HP:0006064", + "Multiple carpal ossification centers": "HP:0006067", + "Multiple carpal ossification centres": "HP:0006067", + "obsolete Severe carpal ossification delay": "HP:0006069", + "Metacarpophalangeal joint contracture": "HP:0006070", + "Metacarpal/phalangeal joint contractures": "HP:0006070", + "Absent proximal finger flexion creases": "HP:0006077", + "Thin metacarpal cortices": "HP:0006086", + "1-5 finger complete cutaneous syndactyly": "HP:0006088", + "Palmar hyperhidrosis": "HP:0006089", + "Excessive sweating of hands": "HP:0006089", + "Malaligned carpal bone": "HP:0006092", + "Incorrect alignment of wrist bone": "HP:0006092", + "Finger joint hypermobility": "HP:0006094", + "Increased mobility in finger joint": "HP:0006094", + "Wide tufts of distal phalanges": "HP:0006095", + "Wide tips of outermost digital bone": "HP:0006095", + "3-4 finger osseus syndactyly": "HP:0006097", + "Partial or complete syndactyly 3rd-4th fingers": "HP:0006097", + "Webbed 3rd-4th finger": "HP:0006097", + "Webbed 3rd-4th fingers": "HP:0006097", + "Metacarpophalangeal joint hyperextensibility": "HP:0006099", + "Finger syndactyly": "HP:0006101", + "Partial syndactyly": "HP:0006101", + "Absent trapezoid bone": "HP:0006106", + "Fingerpad telangiectases": "HP:0006107", + "Finger pad telangiectases": "HP:0006107", + "Small dilated blood vessels in fingerpads": "HP:0006107", + "Tapered metacarpals": "HP:0006108", + "Tapered long bones of hand": "HP:0006108", + "Absent phalangeal crease": "HP:0006109", + "Absent interphalangeal creases": "HP:0006109", + "Aplasia of the interphalangeal creases": "HP:0006109", + "Shortening of all middle phalanges of the fingers": "HP:0006110", + "Expanded phalanges with widened medullary cavities": "HP:0006112", + "Multiple palmar creases": "HP:0006114", + "Multiple palm lines": "HP:0006114", + "Shortening of all distal phalanges of the fingers": "HP:0006118", + "Shortening of all outermost bones of the fingers": "HP:0006118", + "Brachytelephalangy": "HP:0006118", + "Proximal tapering of metacarpals": "HP:0006119", + "Pointed innermost long bone of hand": "HP:0006119", + "Pointed proximal metacarpals": "HP:0006119", + "Acral ulceration": "HP:0006121", + "Long proximal phalanx of finger": "HP:0006127", + "Long innermost finger bone": "HP:0006127", + "Drumstick terminal phalanges": "HP:0006129", + "Drumstick shaped digital bones": "HP:0006129", + "Enlarged metacarpal epiphyses": "HP:0006134", + "Enlarged end part of long bone of hand": "HP:0006134", + "Decreased finger mobility": "HP:0006135", + "Decreased finger movement": "HP:0006135", + "Bilateral postaxial polydactyly": "HP:0006136", + "Premature fusion of phalangeal epiphyses": "HP:0006140", + "Premature fusion of end part of digital bone": "HP:0006140", + "Abnormal finger flexion crease": "HP:0006143", + "Abnormal finger flexion creases": "HP:0006143", + "Shortening of all proximal phalanges of the fingers": "HP:0006144", + "Shortening of all innermost bones of the fingers": "HP:0006144", + "Central Y-shaped metacarpal": "HP:0006145", + "Y-shaped central long bones of hand": "HP:0006145", + "Broad metacarpal epiphyses": "HP:0006146", + "Broad end part of long bone of hand": "HP:0006146", + "Progressive fusion 2nd-5th pip joints": "HP:0006147", + "Increased laxity of fingers": "HP:0006149", + "Swan neck-like deformities of the fingers": "HP:0006150", + "Proximal symphalangism of hands": "HP:0006152", + "Fused innermost hinge joints": "HP:0006152", + "Proximal interphalangeal joint synostoses": "HP:0006152", + "obsolete Disharmonious carpal bone": "HP:0006153", + "Long phalanx of finger": "HP:0006155", + "Long finger bone": "HP:0006155", + "Ulnar deviation of thumb": "HP:0006156", + "Curved thumb deviated towards palm": "HP:0006156", + "Ulnar deviation of the 1st finger": "HP:0006156", + "Prominent palmar flexion creases": "HP:0006157", + "Prominent life line": "HP:0006157", + "obsolete Finger joint hyperextensibility": "HP:0006158", + "Mesoaxial hand polydactyly": "HP:0006159", + "Interdigital finger polydactyly": "HP:0006159", + "Central hand polydactyly": "HP:0006159", + "Irregular metacarpals": "HP:0006160", + "Irregular long bones of hand": "HP:0006160", + "Short metacarpals with rounded proximal ends": "HP:0006161", + "Short long bone of hand with rounded innermost ends": "HP:0006161", + "Soft tissue swelling of interphalangeal joints": "HP:0006162", + "Soft tissue swelling of hinge joints": "HP:0006162", + "Enlarged metacarpophalangeal joints": "HP:0006163", + "Proportionate shortening of all digits": "HP:0006165", + "Tubular metacarpal bones": "HP:0006166", + "Cylindrical shaped long bones of hand": "HP:0006166", + "Prominent proximal interphalangeal joints": "HP:0006167", + "Prominent innermost hinge joints": "HP:0006167", + "Decreased mobility 3rd-5th fingers": "HP:0006169", + "Chess-pawn distal phalanges": "HP:0006170", + "Chess-pawn shaped outermost bone": "HP:0006170", + "Flattened, squared-off epiphyses of tubular bones": "HP:0006172", + "Flattened, squared-off end part of tubular bones": "HP:0006172", + "Metacarpal diaphyseal endosteal sclerosis": "HP:0006174", + "Proximal phalangeal periosteal thickening": "HP:0006175", + "Thickening of connective tissue of innermost finger bone": "HP:0006175", + "Two carpal ossification centers present at birth": "HP:0006176", + "Two carpal ossification centres present at birth": "HP:0006176", + "Pseudoepiphyses of second metacarpal": "HP:0006179", + "Extra bone on end of second long bone of hand": "HP:0006179", + "Pseudoepiphysis of the 2nd metacarpal": "HP:0006179", + "Crowded carpal bones": "HP:0006180", + "Crowded wrist bones": "HP:0006180", + "Decreased palmar creases": "HP:0006184", + "Hypoplastic palmar creases": "HP:0006184", + "Poorly formed palmar creases": "HP:0006184", + "Shallow palm line": "HP:0006184", + "Shallow palmar creases": "HP:0006184", + "Enlarged proximal interphalangeal joints": "HP:0006185", + "Enlarged innermost hinge joint": "HP:0006185", + "obsolete Fusion of midphalangeal joints": "HP:0006187", + "Prominent interdigital folds": "HP:0006189", + "Radially deviated wrists": "HP:0006190", + "Deep palmar crease": "HP:0006191", + "Deep palm line": "HP:0006191", + "Deep palmar creases": "HP:0006191", + "Tapered phalanx of finger": "HP:0006192", + "Tapered finger bone": "HP:0006192", + "Thimble-shaped middle phalanges of hand": "HP:0006193", + "Thimble-shaped middle bones of hand": "HP:0006193", + "Widened distal phalanges": "HP:0006200", + "Widened outermost bone of limb": "HP:0006200", + "Hypermobility of distal interphalangeal joints": "HP:0006201", + "Increased mobility of outermost hinge joint": "HP:0006201", + "Osteolysis of scaphoids": "HP:0006202", + "Decreased movement range in interphalangeal joints": "HP:0006203", + "Decreased range of movement range in hinge joints": "HP:0006203", + "Irregular phalanges": "HP:0006205", + "Irregular finger bones": "HP:0006205", + "Hypersegmentation of proximal phalanx of second finger": "HP:0006206", + "Partial fusion of carpals": "HP:0006207", + "Metaphyseal cupping of proximal phalanges": "HP:0006208", + "Partial-complete absence of 5th phalanges": "HP:0006209", + "Partial-complete absence of 5th digital bone": "HP:0006209", + "Postaxial oligodactyly": "HP:0006210", + "Thin proximal phalanges with broad epiphyses of the hand": "HP:0006213", + "Thin proximal phalanges with broad epiphyses": "HP:0006213", + "Thin innermost bone with broad end part of the hand bone": "HP:0006213", + "Single interphalangeal crease of fifth finger": "HP:0006216", + "Fifth finger single interphalangeal crease": "HP:0006216", + "Limited mobility of proximal interphalangeal joint": "HP:0006217", + "Limited mobility of innermost hinge joint": "HP:0006217", + "Tapering pointed ends of distal finger phalanges": "HP:0006224", + "Osteoarthritis of the first carpometacarpal joint": "HP:0006226", + "Valgus hand deformity": "HP:0006228", + "Unilateral oligodactyly": "HP:0006230", + "Expanded metacarpals with widened medullary cavities": "HP:0006232", + "Osteoarthritis of the distal interphalangeal joint": "HP:0006233", + "Osteolysis involving tarsal bones": "HP:0006234", + "Tarsal bone osteolysis": "HP:0006234", + "Tarsal osteolysis": "HP:0006234", + "Slender metacarpals": "HP:0006236", + "Slender long bones of hand": "HP:0006236", + "Prominent interphalangeal joints": "HP:0006237", + "Prominent hinge joints": "HP:0006237", + "Shortening of all middle phalanges of the toes": "HP:0006239", + "Brachymesophalangy of feet": "HP:0006239", + "Shortening of all the middle bones of the toes": "HP:0006239", + "Phalangeal dislocation": "HP:0006243", + "Enlarged interphalangeal joints": "HP:0006247", + "Enlarged hinge joints": "HP:0006247", + "Limited wrist movement": "HP:0006248", + "Limited movement of the wrist": "HP:0006248", + "Limited wrist extension": "HP:0006251", + "Interphalangeal joint erosions": "HP:0006252", + "Swelling of proximal interphalangeal joints": "HP:0006253", + "Swelling of innermost hinge joints": "HP:0006253", + "Elevated circulating alpha-fetoprotein concentration": "HP:0006254", + "Increased levels of alpha fetoprotein": "HP:0006254", + "Increased serum alpha-fetoprotein": "HP:0006254", + "Serum alpha-fetoprotein increased": "HP:0006254", + "Alpha fetoprotein abnormal": "HP:0006254", + "Abnormality of hand joint mobility": "HP:0006256", + "Abnormality of carpal bone ossification": "HP:0006257", + "Abnormal wrist bone maturation": "HP:0006257", + "Abnormal phalangeal joint morphology of the hand": "HP:0006261", + "Abnormality of phalangeal joints of the hand": "HP:0006261", + "Abnormality of the small joints of the hand": "HP:0006261", + "Aplasia/Hypoplasia of the 5th finger": "HP:0006262", + "Absent/small little finger": "HP:0006262", + "Absent/small pinkie finger": "HP:0006262", + "Absent/small pinky finger": "HP:0006262", + "Absent/underdeveloped little finger": "HP:0006262", + "Absent/underdeveloped pinkie finger": "HP:0006262", + "Absent/underdeveloped pinky finger": "HP:0006262", + "Abnormality of the epiphyses of the 2nd finger": "HP:0006263", + "Abnormality of the end part of the index finger bone": "HP:0006263", + "Aplasia/Hypoplasia of the 2nd finger": "HP:0006264", + "Absent/small index finger": "HP:0006264", + "Absent/underdeveloped index finger": "HP:0006264", + "Aplasia/Hypoplasia of fingers": "HP:0006265", + "Absent/small fingers": "HP:0006265", + "Absent/underdeveloped fingers": "HP:0006265", + "Small placenta": "HP:0006266", + "Large placenta": "HP:0006267", + "Placental enlargement": "HP:0006267", + "Fluctuating splenomegaly": "HP:0006268", + "Hypoplastic spleen": "HP:0006270", + "Underdeveloped spleen": "HP:0006270", + "Pancreatic lymphangiectasis": "HP:0006273", + "Reduced pancreatic beta cells": "HP:0006274", + "Hyperechogenic pancreas": "HP:0006276", + "Pancreatic hyperplasia": "HP:0006277", + "Ectopic pancreatic tissue": "HP:0006278", + "Abnormal pancreas location": "HP:0006278", + "Beta-cell dysfunction": "HP:0006279", + "Chronic pancreatitis": "HP:0006280", + "Chronic pancreas inflammation": "HP:0006280", + "Generalized hypoplasia of dental enamel": "HP:0006282", + "Generalised hypoplasia of dental enamel": "HP:0006282", + "Generalised hypoplasia of tooth enamel": "HP:0006282", + "Generalized hypoplasia of tooth enamel": "HP:0006282", + "Generalised dysplasia of tooth enamel": "HP:0006282", + "Generalized dysplasia of tooth enamel": "HP:0006282", + "Multiple unerupted teeth": "HP:0006283", + "Failure of eruption of multiple teeth": "HP:0006283", + "Multiple non-erupting teeth": "HP:0006283", + "Enamel hypomineralization": "HP:0006285", + "Decreased enamel mineralisation": "HP:0006285", + "Hypomineralization of enamel": "HP:0006285", + "Mottled tooth enamel": "HP:0006285", + "Poorly mineralized tooth enamel": "HP:0006285", + "Increased porosity of tooth enamel": "HP:0006285", + "Fluorosis of tooth enamel": "HP:0006285", + "White spot lesions of tooth enamel": "HP:0006285", + "Yellow-brown discoloration of the teeth": "HP:0006286", + "Yellow-brown discolored teeth": "HP:0006286", + "Yellow-brown discoloured teeth": "HP:0006286", + "Yellow-brown tooth shade": "HP:0006286", + "Advanced eruption of teeth": "HP:0006288", + "Advanced dental eruption": "HP:0006288", + "Advanced tooth eruption": "HP:0006288", + "Early dental eruption": "HP:0006288", + "Early eruption of teeth": "HP:0006288", + "Eruption, advanced": "HP:0006288", + "Premature dental eruption": "HP:0006288", + "Premature eruption of teeth": "HP:0006288", + "Premature tooth eruption": "HP:0006288", + "Agenesis of central incisor": "HP:0006289", + "Absent central incisor": "HP:0006289", + "Failure of development of central incisor": "HP:0006289", + "Absent central incisors": "HP:0006289", + "Missing central incisors": "HP:0006289", + "Discolored lateral incisors": "HP:0006290", + "Abnormality of color of front teeth": "HP:0006290", + "Abnormality of color of lateral incisor": "HP:0006290", + "Abnormality of colour of front teeth": "HP:0006290", + "Abnormality of colour of lateral incisor": "HP:0006290", + "Abnormality of shade of lateral incisor": "HP:0006290", + "Discolored front teeth": "HP:0006290", + "Discoloured front teeth": "HP:0006290", + "Discoloured lateral incisors": "HP:0006290", + "Marked delay in eruption of permanent teeth": "HP:0006291", + "Severe delay of eruption of adult teeth": "HP:0006291", + "Severe delay of eruption of permanent teeth": "HP:0006291", + "Very late eruption of adult teeth": "HP:0006291", + "Very late eruption of permanent teeth": "HP:0006291", + "Abnormality of dental eruption": "HP:0006292", + "Abnormal dental eruption": "HP:0006292", + "Abnormality of tooth eruption": "HP:0006292", + "Anomaly of dental eruption": "HP:0006292", + "Anomaly of tooth eruption": "HP:0006292", + "Disorder of dental eruption": "HP:0006292", + "Disorder of tooth eruption": "HP:0006292", + "Disturbance of dental eruption": "HP:0006292", + "Disturbance of tooth eruption": "HP:0006292", + "Agenesis of maxillary central incisor": "HP:0006293", + "Failure of development of maxillary central incisor": "HP:0006293", + "Absence of maxillary central incisor": "HP:0006293", + "Missing maxillary central incisor": "HP:0006293", + "Missing upper central incisor": "HP:0006293", + "Enamel hypoplasia": "HP:0006297", + "Defective enamel matrix": "HP:0006297", + "Thin dental enamel": "HP:0006297", + "Thin tooth enamel": "HP:0006297", + "Dental enamel hypoplasia": "HP:0006297", + "Enamel hypotrophy": "HP:0006297", + "Enamel, underdeveloped": "HP:0006297", + "Hypoplasia of dental enamel": "HP:0006297", + "Hypoplasia of tooth enamel": "HP:0006297", + "Underdeveloped teeth enamel": "HP:0006297", + "Dysplasia of tooth enamel": "HP:0006297", + "Enamel dysplasia": "HP:0006297", + "Prolonged bleeding after dental extraction": "HP:0006298", + "Dagger-shaped pulp calcifications": "HP:0006302", + "Dagger shaped pulp denticles": "HP:0006302", + "Dagger shaped pulp stones": "HP:0006302", + "Widely-spaced incisors": "HP:0006304", + "Anterior diastema of teeth": "HP:0006304", + "Gap between front teeth": "HP:0006304", + "Widely spaced front teeth": "HP:0006304", + "Diastema between front teeth": "HP:0006304", + "Diastema between incisors": "HP:0006304", + "Atrophy of alveolar ridges": "HP:0006308", + "Atrophy of alveolar margins": "HP:0006308", + "Atrophy of alveolar processes of jaw": "HP:0006308", + "Resorption of alveolar margins": "HP:0006308", + "Resorption of alveolar processes of jaw": "HP:0006308", + "Resorption of alveolar ridges": "HP:0006308", + "Shrinking of alveolar ridges": "HP:0006308", + "Shrinking of gum ridges": "HP:0006308", + "Alveolar bone loss": "HP:0006308", + "Flattening of alveolar margin": "HP:0006308", + "Flattening of alveolar processes of jaw": "HP:0006308", + "Flattening of alveolar ridges": "HP:0006308", + "Flattening of gum ridges": "HP:0006308", + "Generalized microdontia": "HP:0006311", + "Decreased size of all teeth": "HP:0006311", + "Hypotrophy of all teeth": "HP:0006311", + "Tooth mass insufficiency": "HP:0006311", + "Decreased tooth mass": "HP:0006311", + "Decreased width of all teeth": "HP:0006311", + "Generalised microdontia": "HP:0006311", + "Widely spaced primary teeth": "HP:0006313", + "Generalised spacing of primary teeth": "HP:0006313", + "Generalized spacing of primary teeth": "HP:0006313", + "Wide gaps between baby teeth": "HP:0006313", + "Wide gaps between primary teeth": "HP:0006313", + "Widely spaced baby teeth": "HP:0006313", + "Widely spaced deciduous teeth": "HP:0006313", + "Widely spaced milk teeth": "HP:0006313", + "Solitary median maxillary central incisor": "HP:0006315", + "Only one upper front tooth": "HP:0006315", + "Single central incisor": "HP:0006315", + "Single central upper incisor": "HP:0006315", + "Single maxillary central incisor": "HP:0006315", + "Single median incisor": "HP:0006315", + "Single median maxillary incisor": "HP:0006315", + "Single midline maxillary incisor": "HP:0006315", + "Single midline upper front tooth": "HP:0006315", + "Solitary midline maxillary central incisor": "HP:0006315", + "Solitary median maxillary central incisor syndrome": "HP:0006315", + "Irregularly spaced teeth": "HP:0006316", + "Irregular dental spacing": "HP:0006316", + "Variability of dental spacing": "HP:0006316", + "Variability of spacing between teeth": "HP:0006316", + "Multiple non-erupting secondary teeth": "HP:0006321", + "Failure of eruption of multiple adult teeth": "HP:0006321", + "Failure of eruption of multiple permanent teeth": "HP:0006321", + "Multiple non-erupting adult teeth": "HP:0006321", + "Multiple non-erupting permanent teeth": "HP:0006321", + "Multiple unerupted adult teeth": "HP:0006321", + "Multiple unerupted permanent teeth": "HP:0006321", + "Premature loss of primary teeth": "HP:0006323", + "Early loss of baby teeth": "HP:0006323", + "Early loss of deciduous teeth": "HP:0006323", + "Early loss of primary teeth": "HP:0006323", + "Premature deciduous tooth loss": "HP:0006323", + "Premature loss of baby teeth": "HP:0006323", + "Premature loss of deciduous teeth": "HP:0006323", + "Premature exfoliation of deciduous teeth": "HP:0006323", + "Premature exfoliation of primary teeth": "HP:0006323", + "Buried teeth encased in mucopolysaccharide": "HP:0006326", + "Failure of dental eruption due to mucopolysaccharidoses": "HP:0006326", + "Failure of tooth eruption due to mucopolysaccharidoses": "HP:0006326", + "Impacted teeth due to mucopolysaccharidoses": "HP:0006326", + "Unerupted dentition due to mucopolysaccharidoses": "HP:0006326", + "Unerupted teeth due to mucopolysaccharidoses": "HP:0006326", + "Alveolar process hypoplasia": "HP:0006329", + "Decreased size of alveolar process of jaw": "HP:0006329", + "Decreased size of alveolar ridge": "HP:0006329", + "Hypoplasia of alveolar ridge": "HP:0006329", + "Hypoplastic alveolar bone": "HP:0006329", + "Small alveolar process of jaw": "HP:0006329", + "Small alveolar ridge": "HP:0006329", + "Underdevelopment of alveolar process of jaw": "HP:0006329", + "Underdevelopment of alveolar ridge": "HP:0006329", + "Deficiency of alveolar process of jaw": "HP:0006329", + "Deficiency of alveolar ridge": "HP:0006329", + "Hypotrophic alveolar process of jaw": "HP:0006329", + "Hypotrophic alveolar ridge": "HP:0006329", + "Rotated maxillary central incisors": "HP:0006330", + "Rotated upper central incisors": "HP:0006330", + "Rotated upper front teeth": "HP:0006330", + "Turned upper front teeth": "HP:0006330", + "Twisted upper front teeth": "HP:0006330", + "Supernumerary maxillary incisor": "HP:0006332", + "Extra upper front tooth": "HP:0006332", + "Crowded maxillary incisors": "HP:0006333", + "Crowded upper front teeth": "HP:0006333", + "Crowded upper incisors": "HP:0006333", + "Overlapped maxillary incisors": "HP:0006333", + "Overlapped upper front teeth": "HP:0006333", + "Hypoplasia of the primary teeth": "HP:0006334", + "Decreased size of baby teeth": "HP:0006334", + "Decreased size of deciduous teeth": "HP:0006334", + "Decreased size of milk teeth": "HP:0006334", + "Decreased size of primary teeth": "HP:0006334", + "Hypoplastic deciduous teeth": "HP:0006334", + "Small baby teeth": "HP:0006334", + "Small milk teeth": "HP:0006334", + "Small primary teeth": "HP:0006334", + "Underdevelopment of baby teeth": "HP:0006334", + "Underdevelopment of milk teeth": "HP:0006334", + "Underdevelopment of primary teeth": "HP:0006334", + "Persistence of primary teeth": "HP:0006335", + "Deciduous teeth retention": "HP:0006335", + "Delayed loss of baby teeth": "HP:0006335", + "Delayed loss of deciduous teeth": "HP:0006335", + "Delayed loss of primary teeth": "HP:0006335", + "Failure to exfoliate deciduous teeth": "HP:0006335", + "Failure to exfoliate primary teeth": "HP:0006335", + "Failure to lose baby teeth": "HP:0006335", + "Persistence of deciduous teeth": "HP:0006335", + "Persistent deciduous dentition": "HP:0006335", + "Persistent primary dentition": "HP:0006335", + "Persistent primary teeth": "HP:0006335", + "Retained baby teeth": "HP:0006335", + "Retained deciduous teeth": "HP:0006335", + "Retained primary teeth": "HP:0006335", + "Short dental root": "HP:0006336", + "Underdeveloped tooth roots": "HP:0006336", + "Decreased length of dental roots": "HP:0006336", + "Decreased length of tooth roots": "HP:0006336", + "Dental root hypoplasia": "HP:0006336", + "Dental root hypotrophy": "HP:0006336", + "Rhizomicry": "HP:0006336", + "Root dwarfism": "HP:0006336", + "Short dental roots": "HP:0006336", + "Short tooth roots": "HP:0006336", + "Underdeveloped dental roots": "HP:0006336", + "Premature eruption of permanent teeth": "HP:0006337", + "Early eruption of adult teeth": "HP:0006337", + "Early eruption of permanent teeth": "HP:0006337", + "Precocious eruption of secondary dentition": "HP:0006337", + "Precocious eruption of secondary teeth": "HP:0006337", + "Premature eruption of adult teeth": "HP:0006337", + "Malformation of mandibular premolar": "HP:0006338", + "Malformation of lower premolar": "HP:0006338", + "Malformation of mandibular bicuspid": "HP:0006338", + "Conical mandibular incisor": "HP:0006339", + "Cone shaped lower front tooth": "HP:0006339", + "Conoid mandibular incisor": "HP:0006339", + "Lower front shark tooth": "HP:0006339", + "Peg shaped lower front tooth": "HP:0006339", + "Peg shaped mandibular incisor": "HP:0006339", + "Pointed mandibular incisor": "HP:0006339", + "Pointed mandibular incisors": "HP:0006339", + "Peg-shaped maxillary lateral incisors": "HP:0006342", + "Peg laterals": "HP:0006342", + "Peg shaped upper lateral incisors": "HP:0006342", + "Cone shaped upper lateral incisors": "HP:0006342", + "Conical maxillary lateral incisors": "HP:0006342", + "Conoid upper lateral incisors": "HP:0006342", + "Pointed upper lateral incisors": "HP:0006342", + "Abnormal primary molar morphology": "HP:0006344", + "Abnormality of deciduous molar morphology": "HP:0006344", + "Abnormality of primary molar morphology": "HP:0006344", + "Abnormality of shape of baby molar": "HP:0006344", + "Abnormality of shape of primary molar": "HP:0006344", + "Screwdriver-shaped incisors": "HP:0006346", + "Screwdriver shaped front teeth": "HP:0006346", + "Microdontia of primary teeth": "HP:0006347", + "Decreased size of primary tooth": "HP:0006347", + "Decreased width of baby teeth": "HP:0006347", + "Decreased width of deciduous teeth": "HP:0006347", + "Decreased width of milk teeth": "HP:0006347", + "Decreased width of primary tooth": "HP:0006347", + "Microdontia of deciduous teeth": "HP:0006347", + "Small deciduous teeth": "HP:0006347", + "Agenesis of permanent teeth": "HP:0006349", + "Absence of adult teeth": "HP:0006349", + "Absence of permanent teeth": "HP:0006349", + "Absence of secondary dentition": "HP:0006349", + "Absent permanent teeth": "HP:0006349", + "Agenesis of permanent dentition": "HP:0006349", + "Agenesis of secondary dentition": "HP:0006349", + "Failure of development of permanent teeth": "HP:0006349", + "Failure of development of secondary teeth": "HP:0006349", + "Missing permanent teeth": "HP:0006349", + "No permanent dentition": "HP:0006349", + "Pulp obliteration": "HP:0006350", + "Obliteration of the pulp chamber": "HP:0006350", + "Pulp canal obliteration": "HP:0006350", + "Reduced size of pulp chamber of tooth": "HP:0006350", + "Small pulp chamber of tooth": "HP:0006350", + "Narrowing of pulp chamber of tooth": "HP:0006350", + "Crescent/chevron-shaped pulp chambers": "HP:0006350", + "Failure of eruption of permanent teeth": "HP:0006352", + "Unerupted adult dentition": "HP:0006352", + "Unerupted adult teeth": "HP:0006352", + "Unerupted permanent dentition": "HP:0006352", + "Unerupted permanent teeth": "HP:0006352", + "Failure of eruption of adult teeth": "HP:0006352", + "Hypoplasia of the tooth germ": "HP:0006353", + "Underdevelopment of tooth bud": "HP:0006353", + "Underdevelopment of tooth germ": "HP:0006353", + "Decreased size of tooth bud": "HP:0006353", + "Decreased size of tooth germ": "HP:0006353", + "Hypotrophic tooth germ": "HP:0006353", + "Small tooth bud": "HP:0006353", + "Small tooth germ": "HP:0006353", + "Hypoplastic tooth buds": "HP:0006353", + "Agenesis of mandibular central incisor": "HP:0006355", + "Failure of development of mandibular central incisor": "HP:0006355", + "Absence of lower central incisor": "HP:0006355", + "Absence of mandibular central incisor": "HP:0006355", + "Missing lower central incisor": "HP:0006355", + "Missing mandibular central incisor": "HP:0006355", + "Premature loss of permanent teeth": "HP:0006357", + "Early loss of adult teeth": "HP:0006357", + "Early loss of permanent teeth": "HP:0006357", + "Early loss of secondary dentition": "HP:0006357", + "Premature loss of adult teeth": "HP:0006357", + "Premature loss of secondary teeth": "HP:0006357", + "Shovel-shaped maxillary central incisors": "HP:0006358", + "Shovel tooth": "HP:0006358", + "Shovel-shaped upper front teeth": "HP:0006358", + "Irregular femoral epiphysis": "HP:0006361", + "Irregular thighbone end part": "HP:0006361", + "Varus deformity of humeral neck": "HP:0006362", + "Adductor longus contractures": "HP:0006366", + "Crumpled long bones": "HP:0006367", + "Forearm reduction defects": "HP:0006368", + "Irregular patellae": "HP:0006369", + "Irregular patellar contour": "HP:0006369", + "Irregular patellar margins": "HP:0006369", + "Distal ulnar epiphyseal stippling": "HP:0006370", + "Distal ulnar epiphyseal calcifications": "HP:0006370", + "Broad long bone diaphyses": "HP:0006371", + "Broad shaft of long bone": "HP:0006371", + "Wide shaft of long bone": "HP:0006371", + "Dumbbell-shaped femur": "HP:0006375", + "Dumbbell-shaped thighbone": "HP:0006375", + "Limited elbow flexion": "HP:0006376", + "Osteolysis of patellae": "HP:0006378", + "Proximal tibial hypoplasia": "HP:0006379", + "Proximal tibial hypopolasia": "HP:0006379", + "Knee flexion contracture": "HP:0006380", + "Inability to straighten knee": "HP:0006380", + "Flexion contracture of knees": "HP:0006380", + "Flexion contractures at both knees": "HP:0006380", + "Flexion contractures of knees": "HP:0006380", + "Flexion deformity of the knee": "HP:0006380", + "Knee flexion contractures": "HP:0006380", + "Knee flexion deformity": "HP:0006380", + "Rudimentary fibula": "HP:0006381", + "Rudimentary to absent fibulae": "HP:0006381", + "Small to absent calf bone": "HP:0006381", + "Small to absent fibula": "HP:0006381", + "Progressive bowing of long bones": "HP:0006383", + "Club-shaped distal femur": "HP:0006384", + "Club-shaped distal femora": "HP:0006384", + "Club-shaped outermost end of thighbone": "HP:0006384", + "Short lower limbs": "HP:0006385", + "Short legs": "HP:0006385", + "Hypoplastic distal radial epiphyses": "HP:0006386", + "Wide distal femoral metaphysis": "HP:0006387", + "Broad outermost wide portion of thighbone": "HP:0006387", + "Wide distal metaphysis of femur": "HP:0006387", + "Limited knee flexion": "HP:0006389", + "Anterior tibial bowing": "HP:0006390", + "Anterior bowing of tibia": "HP:0006390", + "Saber shin": "HP:0006390", + "Saber tibia": "HP:0006390", + "Sabre shin": "HP:0006390", + "Overtubulated long bones": "HP:0006391", + "Increased density of long bones": "HP:0006392", + "Limited pronation/supination of forearm": "HP:0006394", + "Lateral displacement of patellae": "HP:0006397", + "Flat distal femoral epiphysis": "HP:0006398", + "Flat end part of outermost thighbone": "HP:0006398", + "Flattened distal femoral epiphyses": "HP:0006398", + "Absent knee epiphyses": "HP:0006400", + "Absent knee end part": "HP:0006400", + "Distal shortening of limbs": "HP:0006402", + "Short outer part of limbs": "HP:0006402", + "Club-shaped proximal femur": "HP:0006406", + "Club-shaped innermost end of thighbone": "HP:0006406", + "Irregular distal femoral epiphysis": "HP:0006407", + "Irregular outermost thighbone end part": "HP:0006407", + "Distal tapering femur": "HP:0006408", + "Tapering of outermost end of thighbone": "HP:0006408", + "Progressive leg bowing": "HP:0006409", + "Broad tibial metaphyses": "HP:0006413", + "Broad wide portion of shankbone": "HP:0006413", + "Broad wide portion of shinbone": "HP:0006413", + "Distal tibial bowing": "HP:0006414", + "Bowing of the distal tibia": "HP:0006414", + "Tibial bowing at ankle": "HP:0006414", + "Cortically dense long tubular bones": "HP:0006415", + "Wide femoral metaphysis": "HP:0006417", + "Broad femoral metaphyses": "HP:0006417", + "Broad femoral metaphysis": "HP:0006417", + "Broad wide portion of thigh bone": "HP:0006417", + "Asymmetric radial dysplasia": "HP:0006420", + "Peg-like central prominence of distal tibial metaphyses": "HP:0006423", + "Elongated radius": "HP:0006424", + "Rudimentary to absent tibiae": "HP:0006426", + "Broad femoral neck": "HP:0006429", + "Broadening of femoral neck": "HP:0006429", + "Wide femoral neck": "HP:0006429", + "Wide neck of thigh bone": "HP:0006429", + "Widened femoral necks": "HP:0006429", + "Abnormal proximal femoral metaphysis morphology": "HP:0006431", + "Abnormal wide portion of innermost thighbone": "HP:0006431", + "Proximal femoral metaphyseal abnormality": "HP:0006431", + "Trapezoidal distal femoral condyles": "HP:0006432", + "Radial dysplasia": "HP:0006433", + "Dysplastic radii": "HP:0006433", + "Radial longitudinal deficiency": "HP:0006433", + "Hypoplasia of proximal radius": "HP:0006434", + "Proximal radial shortening": "HP:0006434", + "obsolete Shortening of the tibia": "HP:0006436", + "Disproportionate prominence of the femoral medial condyle": "HP:0006437", + "Enlargement of the distal femoral epiphysis": "HP:0006438", + "Enlargement of the outermost thighbone end part": "HP:0006438", + "Large distal femoral epiphyses": "HP:0006438", + "Radioulnar dislocation": "HP:0006439", + "Dislocated radioulnar joints": "HP:0006439", + "Increased density of long bone diaphyses": "HP:0006440", + "Increased density of shaft of long bone": "HP:0006440", + "Lateral humeral condyle aplasia": "HP:0006441", + "Hypoplasia of proximal fibula": "HP:0006442", + "Small innermost upper end of calf bone": "HP:0006442", + "Underdeveloped innermost upper end of calf bone": "HP:0006442", + "Patellar aplasia": "HP:0006443", + "Absent kneecap": "HP:0006443", + "Absent patella": "HP:0006443", + "Absent patellae": "HP:0006443", + "Absent patellas": "HP:0006443", + "Aplastic patellae": "HP:0006443", + "Dysplastic patella": "HP:0006446", + "Distal radial epiphyseal osteolysis": "HP:0006449", + "Multicentric ossification of proximal femoral epiphyses": "HP:0006450", + "Lateral displacement of the femoral head": "HP:0006453", + "Laterally displaced femoral heads": "HP:0006453", + "Delayed patellar ossification": "HP:0006454", + "Delayed patellae ossification": "HP:0006454", + "Delayed bone maturation of the knee cap": "HP:0006454", + "Irregular proximal tibial epiphyses": "HP:0006456", + "Irregular innermost shankbone end part": "HP:0006456", + "Irregular innermost shinbone end part": "HP:0006456", + "Dorsal subluxation of ulna": "HP:0006459", + "Increased laxity of ankles": "HP:0006460", + "Proximal femoral epiphysiolysis": "HP:0006461", + "Slipped capital femoral epiphyses": "HP:0006461", + "Slipped capital femoral epiphysis": "HP:0006461", + "Slipped end part of innermost thighbone": "HP:0006461", + "Generalized bone demineralization": "HP:0006462", + "Generalised bone demineralization": "HP:0006462", + "Rickets of the lower limbs": "HP:0006463", + "Periosteal thickening of long tubular bones": "HP:0006465", + "Ankle flexion contracture": "HP:0006466", + "Limited shoulder movement": "HP:0006467", + "Thin long bone diaphyses": "HP:0006470", + "Thin diaphyses of long bones": "HP:0006470", + "Thin shaft of long bone": "HP:0006470", + "Fixed elbow flexion": "HP:0006471", + "Anterior bowing of long bones": "HP:0006473", + "Abnormality of the pancreatic islet cells": "HP:0006476", + "Abnormal alveolar ridge morphology": "HP:0006477", + "Abnormality of the alveolar ridges": "HP:0006477", + "Abnormality of alveolar margin": "HP:0006477", + "Abnormality of dentoalveolar ridges": "HP:0006477", + "Abnormality of gum ridge": "HP:0006477", + "Defect in alveolar ridge": "HP:0006477", + "Abnormality of alveolar processes of jaw": "HP:0006477", + "Abnormal dental pulp morphology": "HP:0006479", + "Abnormality of the dental pulp": "HP:0006479", + "Abnormality of tooth pulp": "HP:0006479", + "Endodontic abnormality": "HP:0006479", + "Premature loss of teeth": "HP:0006480", + "Early tooth loss": "HP:0006480", + "Loss of teeth": "HP:0006480", + "Premature teeth loss": "HP:0006480", + "Premature tooth loss": "HP:0006480", + "Premature exfoliation of teeth": "HP:0006480", + "Abnormality of primary teeth": "HP:0006481", + "Abnormality of baby teeth": "HP:0006481", + "Abnormality of deciduous teeth": "HP:0006481", + "Abnormality of milk teeth": "HP:0006481", + "Abnormal dental morphology": "HP:0006482", + "Abnormality of dental morphology": "HP:0006482", + "Abnormality of dental shape": "HP:0006482", + "Abnormality of shape of tooth": "HP:0006482", + "Abnormally shaped teeth": "HP:0006482", + "Deformity of teeth": "HP:0006482", + "Dental deformity": "HP:0006482", + "Dental malformations": "HP:0006482", + "Malformation of teeth": "HP:0006482", + "Malformed teeth": "HP:0006482", + "Misshapen teeth": "HP:0006482", + "Misshapened teeth": "HP:0006482", + "Abnormal number of teeth": "HP:0006483", + "Abnormal complement of teeth": "HP:0006483", + "Abnormal tooth count": "HP:0006483", + "Agenesis of incisor": "HP:0006485", + "Failure of development of incisor": "HP:0006485", + "Absence of front tooth": "HP:0006485", + "Absence of incisors": "HP:0006485", + "Missing front tooth": "HP:0006485", + "Missing incisors": "HP:0006485", + "Abnormal dental root morphology": "HP:0006486", + "Abnormality of the dental root": "HP:0006486", + "Abnormality of tooth root": "HP:0006486", + "Dental root anomaly": "HP:0006486", + "Bowing of the long bones": "HP:0006487", + "Bowed long bones": "HP:0006487", + "Bowing of long bones": "HP:0006487", + "Camptomelia": "HP:0006487", + "Diaphyseal bowing": "HP:0006487", + "Diaphyseal bowing of long bones": "HP:0006487", + "Bowing of the arm": "HP:0006488", + "Bending of the arm": "HP:0006488", + "Abnormal femoral metaphysis morphology": "HP:0006489", + "Abnormality of the wide portion of the femoral bone": "HP:0006489", + "Abnormality of the femoral metaphysis": "HP:0006489", + "Abnormal lower-limb metaphysis morphology": "HP:0006490", + "Abnormality of lower-limb metaphyses": "HP:0006490", + "Abnormality of the wide portion of the lower-limb bone": "HP:0006490", + "Abnormal tibial metaphysis morphology": "HP:0006491", + "Abnormality of the wide portion of shankbone": "HP:0006491", + "Abnormality of the wide portion of shinbone": "HP:0006491", + "Abnormality of the tibial metaphysis": "HP:0006491", + "Aplasia/Hypoplasia of the fibula": "HP:0006492", + "Absent/small calf bone": "HP:0006492", + "Absent/underdeveloped calf bone": "HP:0006492", + "Fibular aplasia/hypoplasia": "HP:0006492", + "Hypoplastic/aplastic fibulae": "HP:0006492", + "Aplasia/hypoplasia involving bones of the lower limbs": "HP:0006493", + "Absent/small lower limb bones": "HP:0006493", + "Absent/underdeveloped lower limb bones": "HP:0006493", + "Aplasia/Hypoplasia involving bones of the feet": "HP:0006494", + "Absent/small foot bones": "HP:0006494", + "Absent/underdeveloped foot bones": "HP:0006494", + "Aplasia/Hypoplasia of the ulna": "HP:0006495", + "Absence/underdevelopment of inner forearm bone": "HP:0006495", + "Absent-hypoplastic ulnae": "HP:0006495", + "Absent/small ulna": "HP:0006495", + "Hypoplasia or unilateral/bilateral absence of ulna": "HP:0006495", + "Ulnar hypoplasia/aplasia": "HP:0006495", + "Aplasia/hypoplasia involving bones of the upper limbs": "HP:0006496", + "Absent/small bones of the upper limbs": "HP:0006496", + "Absent/underdeveloped bones of the upper limbs": "HP:0006496", + "Aplasia/Hypoplasia of the patella": "HP:0006498", + "Absent or hypoplastic patellae": "HP:0006498", + "Absent/hypoplastic patella": "HP:0006498", + "Absent/small kneecap": "HP:0006498", + "Absent/underdeveloped kneecap": "HP:0006498", + "Aplastic or hypoplastic patellae": "HP:0006498", + "Hypoplastic or absent patella": "HP:0006498", + "Patellar aplasia/hypoplasia": "HP:0006498", + "Small to absent patellae": "HP:0006498", + "Abnormal femoral epiphysis morphology": "HP:0006499", + "Abnormality of femoral epiphysis": "HP:0006499", + "Abnormality of thighbone end part": "HP:0006499", + "Abnormal lower limb epiphysis morphology": "HP:0006500", + "Abnormal shape of end part of lower limb end bone": "HP:0006500", + "Abnormality involving the epiphyses of the lower limbs": "HP:0006500", + "Abnormality of lower limb epiphysis morphology": "HP:0006500", + "Aplasia/Hypoplasia of the radius": "HP:0006501", + "Absence or underdevelopment of the radius bone of the arm": "HP:0006501", + "Absent/small radius": "HP:0006501", + "Absent/underdeveloped radius": "HP:0006501", + "Radial aplasia/hypoplasia": "HP:0006501", + "Aplasia/Hypoplasia involving the carpal bones": "HP:0006502", + "Absent/small wrist bones": "HP:0006502", + "Absent/underdeveloped wrist bones": "HP:0006502", + "Aplasia/hypoplasia involving forearm bones": "HP:0006503", + "Absent/small forearm bones": "HP:0006503", + "Absent/underdeveloped forearm bones": "HP:0006503", + "obsolete Anomaly of the limb diaphyses morphology": "HP:0006504", + "Abnormal limb epiphysis morphology": "HP:0006505", + "Abnormal shape of end part of limb bones": "HP:0006505", + "Abnormality involving the epiphyses of the limbs": "HP:0006505", + "Abnormality of limb epiphysis morphology": "HP:0006505", + "Aplasia/hypoplasia of the humerus": "HP:0006507", + "Absent/small long bone in upper arm": "HP:0006507", + "Absent/underdeveloped long bone in upper arm": "HP:0006507", + "Abnormality of tibial epiphyses": "HP:0006508", + "Abnormality of end part of shinbone": "HP:0006508", + "Diverticulosis of trachea": "HP:0006509", + "Tracheal diverticulosis": "HP:0006509", + "Tracheal diverticulum": "HP:0006509", + "Tracheocele": "HP:0006509", + "Paratracheal air cyst": "HP:0006509", + "Chronic pulmonary obstruction": "HP:0006510", + "COPD": "HP:0006510", + "Chronic obstructive pulmonary disease": "HP:0006510", + "Laryngeal stridor": "HP:0006511", + "Laryngeal stidor": "HP:0006511", + "Intraalveolar nodular calcifications": "HP:0006514", + "Interstitial pneumonitis": "HP:0006515", + "Hypersensitivity pneumonitis": "HP:0006516", + "Intraalveolar phospholipid accumulation": "HP:0006517", + "Alveolar proteinosis": "HP:0006517", + "Detection of PAS-positive extracellular material in broncho-alveolar lavage": "HP:0006517", + "Pulmonary alveolar proteinosis": "HP:0006517", + "Pulmonary venous occlusion": "HP:0006518", + "Pulmonary venous stenosis": "HP:0006518", + "Pulmonary venoocclusive disease": "HP:0006518", + "Alveolar cell carcinoma": "HP:0006519", + "Progressive pulmonary function impairment": "HP:0006520", + "Pulmonary lymphangiectasia": "HP:0006521", + "Pulmonary lymphangiectasis": "HP:0006521", + "Repeated pneumothoraces": "HP:0006522", + "Repeated pneumothorax": "HP:0006522", + "Tracheobronchial leiomyomatosis": "HP:0006524", + "obsolete Lung segmentation defects": "HP:0006525", + "Lymphocytic interstitial pneumonia": "HP:0006527", + "Lymphocytic interstitial pneumonitis": "HP:0006527", + "Lymphoid interstitial pneumonia": "HP:0006527", + "Lymphoid interstitial pneumonitis": "HP:0006527", + "Chronic lung disease": "HP:0006528", + "Abnormal pulmonary lymphatics": "HP:0006529", + "Abnormal pulmonary interstitial morphology": "HP:0006530", + "Abnormal lung parenchyma morphology": "HP:0006530", + "Abnormality in area between air sacs in lung": "HP:0006530", + "Interstitial lung disease": "HP:0006530", + "Interstitial pulmonary disease": "HP:0006530", + "Pleural lymphangiectasia": "HP:0006531", + "Recurrent pneumonia": "HP:0006532", + "Multiple pulmonary infections": "HP:0006532", + "Pneumonia, recurrent": "HP:0006532", + "Pneumonia, recurrent episodes": "HP:0006532", + "Pulmonary infection": "HP:0006532", + "Pulmonary infections": "HP:0006532", + "Recurrent pulmonary infections": "HP:0006532", + "pulmonary infections, recurrent": "HP:0006532", + "Bronchodysplasia": "HP:0006533", + "Recurrent intrapulmonary hemorrhage": "HP:0006535", + "Recurrent bleeding into lungs": "HP:0006535", + "Recurrent intrapulmonary haemorrhage": "HP:0006535", + "Recurrent pulmonary haemorrhage": "HP:0006535", + "Recurrent pulmonary hemorrhage": "HP:0006535", + "Airway obstruction": "HP:0006536", + "Obstructive lung disease": "HP:0006536", + "Pulmonary obstruction": "HP:0006536", + "Recurrent bronchopulmonary infections": "HP:0006538", + "Recurrent infections in bronchi and lungs": "HP:0006538", + "Recurrent bronchopneumonia": "HP:0006538", + "Bronchial cartilage hypoplasia": "HP:0006539", + "Underdevelopment of the bronical cartilage": "HP:0006539", + "obsolete Chronic obstructive airway disease from birth": "HP:0006541", + "Cardiorespiratory arrest": "HP:0006543", + "Extrapulmonary lobar sequestration": "HP:0006544", + "Extralobar sequestration": "HP:0006544", + "Extrapulmonary sequestrum": "HP:0006544", + "Diaphragmatic sequestrum": "HP:0006544", + "Pulmonary arteriovenous malformation": "HP:0006548", + "Pulmonary AV malformation": "HP:0006548", + "Unilateral primary pulmonary dysgenesis": "HP:0006549", + "Primary pulmonary dysgenesis, unilateral": "HP:0006549", + "Fibrocystic lung disease": "HP:0006552", + "Acute hepatic failure": "HP:0006554", + "Acute liver failure": "HP:0006554", + "Diffuse hepatic steatosis": "HP:0006555", + "Hepatic steatosis, diffuse": "HP:0006555", + "Polycystic liver disease": "HP:0006557", + "Decreased mitochondrial complex III activity in liver tissue": "HP:0006558", + "Hepatic calcification": "HP:0006559", + "Liver calcifications": "HP:0006559", + "Biliary hyperplasia": "HP:0006560", + "Bile duct hyperplasia": "HP:0006560", + "Lipid accumulation in hepatocytes": "HP:0006561", + "Viral hepatitis": "HP:0006562", + "Malformation of the hepatic ductal plate": "HP:0006563", + "Fluctuating hepatomegaly": "HP:0006564", + "Increased hepatocellular lipid droplets": "HP:0006565", + "Neonatal cholestatic liver disease": "HP:0006566", + "Increased hepatic glycogen content": "HP:0006568", + "Increased liver glycogen content": "HP:0006568", + "Reduced number of intrahepatic bile ducts": "HP:0006571", + "Hepatic ductopenia": "HP:0006571", + "Intrahepatic duct deficiency": "HP:0006571", + "Subacute progressive viral hepatitis": "HP:0006572", + "Acute hepatic steatosis": "HP:0006573", + "Acute fatty liver": "HP:0006573", + "Hepatic arteriovenous malformation": "HP:0006574", + "Liver arteriovenous malformation": "HP:0006574", + "Intrahepatic cholestasis with episodic jaundice": "HP:0006575", + "Hepatic vascular malformations": "HP:0006576", + "Liver vascular malformations": "HP:0006576", + "Macronodular cirrhosis": "HP:0006577", + "Prolonged neonatal jaundice": "HP:0006579", + "Neonatal jaundice": "HP:0006579", + "Prolonged yellowing of skin in newborn": "HP:0006579", + "Jaundice, neonatal": "HP:0006579", + "Portal fibrosis": "HP:0006580", + "Portal fibrosis shown on biopsy": "HP:0006580", + "Depletion of mitochondrial DNA in liver": "HP:0006581", + "Reye syndrome-like episodes": "HP:0006582", + "Fatal liver failure in infancy": "HP:0006583", + "Small abnormally formed scapulae": "HP:0006584", + "Small abnormally formed scapula": "HP:0006584", + "Small abnormally formed shoulder blade": "HP:0006584", + "Congenital pseudoarthrosis of the clavicle": "HP:0006585", + "Clavicle pseudoarthrosis": "HP:0006585", + "Pseudoarthrosis of clavicle": "HP:0006585", + "Bipartite clavicle": "HP:0006585", + "Straight clavicles": "HP:0006587", + "Straight collarbone": "HP:0006587", + "Flaring of lower rib cage": "HP:0006589", + "Premature sternal synostosis": "HP:0006590", + "Prematurely closed sternal sutures": "HP:0006590", + "Absent glenoid fossa": "HP:0006591", + "Aplasia of the glenoid fossa": "HP:0006591", + "Anomalous rib insertion to vertebrae": "HP:0006593", + "Scapulohumeral synostosis": "HP:0006595", + "Fusion of shoulder blade to long bone in upper arm": "HP:0006595", + "Humero-scapulo synostosis": "HP:0006595", + "Humeroscapular synostosis": "HP:0006595", + "Synostosis of shoulder joint": "HP:0006595", + "Restricted chest movement": "HP:0006596", + "Diaphragmatic paralysis": "HP:0006597", + "Paralysed diaphragm": "HP:0006597", + "Paralyzed diaphragm": "HP:0006597", + "Irregular ossification at anterior rib ends": "HP:0006598", + "Medial widening of clavicles": "HP:0006599", + "Progressive calcification of costochondral cartilage": "HP:0006600", + "Flared, irregular rib ends": "HP:0006603", + "Irregular chondrocostal junctions": "HP:0006606", + "Irregular costochondral margins": "HP:0006606", + "Precocious costochondral ossification": "HP:0006607", + "Midclavicular hypoplasia": "HP:0006608", + "Underdeveloped middle portion of the collarbone": "HP:0006608", + "Wide intermamillary distance": "HP:0006610", + "Wide-spaced nipples": "HP:0006610", + "Widely spaced nipples": "HP:0006610", + "Widely-spaced nipples": "HP:0006610", + "Decreased number of sternal ossification centers": "HP:0006611", + "Decreased number of sternal ossification centres": "HP:0006611", + "Absent in utero rib ossification": "HP:0006615", + "Absent rib calcification in utero": "HP:0006615", + "Anterior rib punctate calcifications": "HP:0006619", + "Costochondral joint sclerosis": "HP:0006623", + "Sclerotic costochondral joints": "HP:0006623", + "Multifocal breast carcinoma": "HP:0006625", + "Multifocal breast cancer": "HP:0006625", + "Absent sternal ossification": "HP:0006628", + "Absent sternal mineralization": "HP:0006628", + "Lack of sternal ossification": "HP:0006628", + "Absent bone maturation in sternum": "HP:0006628", + "Hypoplastic distal segments of scapulae": "HP:0006631", + "Small outermost segments of shoulder blade": "HP:0006631", + "Small distal segments of the shoulder blade": "HP:0006631", + "Underdeveloped outermost segments of shoulder blade": "HP:0006631", + "Glenoid fossa hypoplasia": "HP:0006633", + "Glenoid hypoplasia": "HP:0006633", + "Hypoplastic glenoid fossa": "HP:0006633", + "Osteosclerosis of ribs": "HP:0006634", + "Increased bone density in ribs": "HP:0006634", + "Sternal punctate calcifications": "HP:0006637", + "Midclavicular aplasia": "HP:0006638", + "Missing middle part of collarbone": "HP:0006638", + "Multiple rib fractures": "HP:0006640", + "Prominent floating ribs": "HP:0006641", + "Large sternal ossification centers": "HP:0006642", + "Large sternal ossification centres": "HP:0006642", + "Fused sternal ossification centers": "HP:0006643", + "Fused sternal ossification centres": "HP:0006643", + "Thoracic dysplasia": "HP:0006644", + "Thin clavicles": "HP:0006645", + "Thin collarbone": "HP:0006645", + "Costal cartilage calcification": "HP:0006646", + "Cartilaginous ossification of rib": "HP:0006646", + "Congenital microthorax": "HP:0006647", + "Costochondral pain": "HP:0006649", + "Costochondral junction pain": "HP:0006649", + "Thickening of the lateral border of the scapula": "HP:0006650", + "Thickening of the lateral border of the shoulder blade": "HP:0006650", + "Rib segmentation abnormalities": "HP:0006655", + "Hypoplasia of first ribs": "HP:0006657", + "Hypoplastic first rib": "HP:0006657", + "Hypoplastic first ribs": "HP:0006657", + "Small first rib": "HP:0006657", + "Underdeveloped first rib": "HP:0006657", + "Internally rotated shoulders": "HP:0006659", + "Aplastic clavicle": "HP:0006660", + "Absent clavicles": "HP:0006660", + "Absent collarbone": "HP:0006660", + "Aplastic clavicles": "HP:0006660", + "Coat hanger sign of ribs": "HP:0006665", + "Twelfth rib hypoplasia": "HP:0006668", + "Small twelfth rib": "HP:0006668", + "Underdeveloped twelfth rib": "HP:0006668", + "Impaired myocardial contractility": "HP:0006670", + "Paroxysmal atrial tachycardia": "HP:0006671", + "Reduced systolic function": "HP:0006673", + "Prolonged QRS complex": "HP:0006677", + "Intraventricular conduction delay": "HP:0006677", + "Prolonged QRS complex on EKG": "HP:0006677", + "QRS widening": "HP:0006677", + "Granulomatous coronary arteritis": "HP:0006679", + "Absent atrioventricular node": "HP:0006681", + "Premature ventricular contraction": "HP:0006682", + "Extra heart beat": "HP:0006682", + "Premature ventricular beat": "HP:0006682", + "Premature ventricular contractions": "HP:0006682", + "Ventricular ectopics": "HP:0006682", + "Ventricular extrasystoles": "HP:0006682", + "Ventricular premature beat": "HP:0006682", + "Missed heartbeat": "HP:0006682", + "Skipped heartbeat": "HP:0006682", + "Abnormal ventricular filling": "HP:0006683", + "Ventricular preexcitation with multiple accessory pathways": "HP:0006684", + "Endocardial fibrosis": "HP:0006685", + "Endomyocardial fibrosis": "HP:0006685", + "Aortic tortuosity": "HP:0006687", + "Paroxysmal tachycardia": "HP:0006688", + "Bacterial endocarditis": "HP:0006689", + "Infective endocarditis": "HP:0006689", + "Myocardial calcification": "HP:0006690", + "Calcified myocardium": "HP:0006690", + "Pulmonic valve myxoma": "HP:0006691", + "Short chordae tendineae of the tricuspid valve": "HP:0006692", + "Myocardial steatosis": "HP:0006693", + "Early progressive calcific cardiac valvular disease": "HP:0006694", + "Atrioventricular canal defect": "HP:0006695", + "Hole in center of heart": "HP:0006695", + "Hole in centre of heart": "HP:0006695", + "Atrioventricular septal defect": "HP:0006695", + "Endocardial cushion defect": "HP:0006695", + "Polymorphic and polytopic ventricular extrasystoles": "HP:0006696", + "Dilatation of the ventricular cavity": "HP:0006698", + "Ventricular aneurysm": "HP:0006698", + "Premature atrial contractions": "HP:0006699", + "Atrial ectopic beats": "HP:0006699", + "Atrial premature complex": "HP:0006699", + "Ectopic supraventricular rhythms": "HP:0006699", + "PACs": "HP:0006699", + "Premature supraventricular beats": "HP:0006699", + "Coronary artery dissection": "HP:0006702", + "Aplasia/Hypoplasia of the lungs": "HP:0006703", + "Absent/small lungs": "HP:0006703", + "Absent/underdeveloped lungs": "HP:0006703", + "Abnormal coronary artery morphology": "HP:0006704", + "Abnormal atrioventricular valve morphology": "HP:0006705", + "Abnormality of the atrioventricular valves": "HP:0006705", + "Cystic liver disease": "HP:0006706", + "Abnormality of the hepatic vasculature": "HP:0006707", + "Abnormality of liver blood vessels": "HP:0006707", + "Abnormality of the liver vasculature": "HP:0006707", + "Aplasia/Hypoplasia of the nipples": "HP:0006709", + "Absent/rudimentary nipples": "HP:0006709", + "Absent/small nipples": "HP:0006709", + "Absent/underdeveloped nipples": "HP:0006709", + "Nipples absent or rudimentary": "HP:0006709", + "Aplasia/Hypoplasia of the clavicles": "HP:0006710", + "Absent/small collarbone": "HP:0006710", + "Absent/underdeveloped collarbone": "HP:0006710", + "Aplasia/Hypoplasia involving bones of the thorax": "HP:0006711", + "Absent/small outermost thorax bone": "HP:0006711", + "Absent/underdeveloped thorax bone": "HP:0006711", + "Aplasia/Hypoplasia of the ribs": "HP:0006712", + "Absent/small ribs": "HP:0006712", + "Absent/underdeveloped ribs": "HP:0006712", + "Hypoplastic or missing ribs": "HP:0006712", + "Aplasia/Hypoplasia of the scapulae": "HP:0006713", + "Absent/small shoulder blade": "HP:0006713", + "Absent/underdeveloped shoulder blade": "HP:0006713", + "Aplasia/Hypoplasia of the sternum": "HP:0006714", + "Absent/small sternum": "HP:0006714", + "Absent/underdeveloped sternum": "HP:0006714", + "Glomus tympanicum paraganglioma": "HP:0006715", + "Tympanic nerve tumor": "HP:0006715", + "Tympanic nerve tumors": "HP:0006715", + "Tympanic nerve tumour": "HP:0006715", + "Tympanic nerve tumours": "HP:0006715", + "Hereditary nonpolyposis colorectal carcinoma": "HP:0006716", + "Peripheral neuroepithelioma": "HP:0006717", + "Benign gastrointestinal tract tumors": "HP:0006719", + "Benign GI tract tumors": "HP:0006719", + "Benign GI tract tumours": "HP:0006719", + "Benign gastrointestinal tract tumours": "HP:0006719", + "Non-cancerous GI tumors": "HP:0006719", + "Non-cancerous GI tumours": "HP:0006719", + "Acute lymphoblastic leukemia": "HP:0006721", + "Acute lymphatic leukaemia": "HP:0006721", + "Acute lymphatic leukemia": "HP:0006721", + "Acute lymphoblastic leukaemia": "HP:0006721", + "Acute lymphocytic leukaemia": "HP:0006721", + "Acute lymphocytic leukemia": "HP:0006721", + "Acute lymphoid leukaemia": "HP:0006721", + "Acute lymphoid leukemia": "HP:0006721", + "Small intestine carcinoid": "HP:0006722", + "Intestinal carcinoid": "HP:0006723", + "Pancreatic adenocarcinoma": "HP:0006725", + "T-cell acute lymphoblastic leukemias": "HP:0006727", + "Retroperitoneal paraganglioma": "HP:0006729", + "Retroperitoneal chemodectoma": "HP:0006729", + "Follicular thyroid carcinoma": "HP:0006731", + "Papillary renal cell carcinoma type 2": "HP:0006732", + "Acute megakaryocytic leukemia": "HP:0006733", + "AMegL": "HP:0006733", + "Acute megakaryocytic leukaemia": "HP:0006733", + "Renal cortical adenoma": "HP:0006735", + "Kidney cortical adenoma": "HP:0006735", + "Extraadrenal pheochromocytoma": "HP:0006737", + "Pheochromocytoma, extraadrenal": "HP:0006737", + "Squamous cell carcinoma of the skin": "HP:0006739", + "Squamous skin carcinoma": "HP:0006739", + "Transitional cell carcinoma of the bladder": "HP:0006740", + "Transitional cell bladder carcinoma": "HP:0006740", + "Congenital neuroblastoma": "HP:0006742", + "Embryonal rhabdomyosarcoma": "HP:0006743", + "Adrenocortical carcinoma": "HP:0006744", + "Adrenal carcinoma": "HP:0006744", + "Adrenal gland carinoma": "HP:0006744", + "Ganglioneuroblastoma": "HP:0006747", + "Adrenal pheochromocytoma": "HP:0006748", + "Pheochromocytoma, adrenal": "HP:0006748", + "Pheochromocytomas, adrenal": "HP:0006748", + "Malignant gastrointestinal tract tumors": "HP:0006749", + "Malignant GI tract tumors": "HP:0006749", + "Malignant GI tract tumours": "HP:0006749", + "Malignant gastrointestinal tract tumours": "HP:0006749", + "Paraspinal neurofibroma": "HP:0006751", + "Paraspinal neurofibromas": "HP:0006751", + "Neoplasm of the stomach": "HP:0006753", + "Stomach tumor": "HP:0006753", + "Stomach tumour": "HP:0006753", + "Neoplasia of the stomach": "HP:0006753", + "Cutaneous leiomyosarcoma": "HP:0006755", + "Diffuse leiomyomatosis": "HP:0006756", + "Malignant genitourinary tract tumor": "HP:0006758", + "Malignant GU tract tumor": "HP:0006758", + "Malignant GU tract tumour": "HP:0006758", + "Malignant genitourinary tract tumour": "HP:0006758", + "Renal pelvic carcinoma": "HP:0006762", + "Anal canal squamous carcinoma": "HP:0006763", + "Chondrosarcoma": "HP:0006765", + "Papillary renal cell carcinoma": "HP:0006766", + "Pituitary prolactin cell adenoma": "HP:0006767", + "Pituitary prolactinoma": "HP:0006767", + "Prolactin-secreting pituitary adenoma": "HP:0006767", + "Prolactinoma": "HP:0006767", + "Localized neuroblastoma": "HP:0006768", + "Localised neuroblastoma": "HP:0006768", + "Myxoid subcutaneous tumors": "HP:0006769", + "Myxoid subcutaneous tumours": "HP:0006769", + "Clear cell renal cell carcinoma": "HP:0006770", + "Nonpapillary renal cell carcinoma": "HP:0006770", + "Duodenal adenocarcinoma": "HP:0006771", + "Duodenal cancer": "HP:0006771", + "Renal angiomyolipoma": "HP:0006772", + "Angiomyolipoma": "HP:0006772", + "Kidney angiomyolipoma": "HP:0006772", + "Cutaneous angiolipomas": "HP:0006773", + "Ovarian papillary adenocarcinoma": "HP:0006774", + "Multiple myeloma": "HP:0006775", + "Kahler's disease": "HP:0006775", + "Plasmocytoma": "HP:0006775", + "Benign genitourinary tract neoplasm": "HP:0006778", + "Benign GU tract neoplasm": "HP:0006778", + "Benign genitourinary tract tumor": "HP:0006778", + "Benign genitourinary tract tumour": "HP:0006778", + "Alveolar rhabdomyosarcoma": "HP:0006779", + "Parathyroid carcinoma": "HP:0006780", + "Parathyroid Cancer": "HP:0006780", + "Hurthle cell thyroid adenoma": "HP:0006781", + "Malignant eosinophil proliferation": "HP:0006782", + "Posterior pharyngeal cleft": "HP:0006783", + "Paranasal sinus hypoplasia": "HP:0006784", + "Small paranasal sinus": "HP:0006784", + "Decreased size of paranasal sinus": "HP:0006784", + "Decreased volume of paranasal sinus": "HP:0006784", + "Underdevelopment of paranasal sinus": "HP:0006784", + "Decreased growth of paranasal sinus": "HP:0006784", + "Decreased pneumatization of paranasal sinus": "HP:0006784", + "Atelectasis of paranasal sinus": "HP:0006784", + "Hypotrophic paranasal sinus": "HP:0006784", + "Limb-girdle muscular dystrophy": "HP:0006785", + "limb girdle muscular dystrophy": "HP:0006785", + "Mitochondrial encephalopathy": "HP:0006789", + "Cerebral cortex with spongiform changes": "HP:0006790", + "Loss of ability to walk in first decade": "HP:0006794", + "Basal ganglia cysts": "HP:0006799", + "Cystic lesions in the basal ganglia": "HP:0006799", + "Hyperactive deep tendon reflexes": "HP:0006801", + "Abnormal anterior horn cell morphology": "HP:0006802", + "Abnormality of the anterior horn cell": "HP:0006802", + "Abnormality of the anterior horn cells": "HP:0006802", + "Anomaly of the anterior horn cells": "HP:0006802", + "Anterior horn cell disease": "HP:0006802", + "Vivid hallucination": "HP:0006803", + "Cerebral hypomyelination": "HP:0006808", + "Hypomyelination of the brain": "HP:0006808", + "White mater abnormalities in the posterior periventricular region": "HP:0006812", + "Focal hemiclonic seizure": "HP:0006813", + "Hemiclonic seizure": "HP:0006813", + "Hemiclonic seizures": "HP:0006813", + "Unilateral clonic seizure": "HP:0006813", + "Unilateral clonic seizures": "HP:0006813", + "Aplasia/Hypoplasia of the cerebellar vermis": "HP:0006817", + "Cerebellar vermis aplasia/hypoplasia": "HP:0006817", + "Hypo/aplastic vermis": "HP:0006817", + "Cerebellar vermis aplasia or hypoplasia": "HP:0006817", + "4-layered lissencephaly": "HP:0006818", + "Classic lissencephaly": "HP:0006818", + "Four-layered lissencephaly": "HP:0006818", + "Lissencephaly, type I": "HP:0006818", + "Type 1 lissencephaly": "HP:0006818", + "Type I lissencephaly": "HP:0006818", + "Frontal polymicrogyria": "HP:0006821", + "Polymicrogyria, anterior to posterior gradient": "HP:0006821", + "Cranial nerve paralysis": "HP:0006824", + "Cranial nerve palsies": "HP:0006824", + "Cranial nerve palsy": "HP:0006824", + "Cranial nerve paresis": "HP:0006824", + "Pallor of dorsal columns of the spinal cord": "HP:0006825", + "Atrophy of the spinal cord": "HP:0006827", + "Degeneration of the spinal cord": "HP:0006827", + "Severe muscular hypotonia": "HP:0006829", + "Hypotonia, severe": "HP:0006829", + "Severely decreased muscle tone": "HP:0006829", + "obsolete Severe neonatal hypotonia in males": "HP:0006830", + "Developmental stagnation at onset of seizures": "HP:0006834", + "Congenital Horner syndrome": "HP:0006837", + "Absent patellar reflexes": "HP:0006844", + "Absent knee jerk reflex": "HP:0006844", + "Acute encephalopathy": "HP:0006846", + "Hypodysplasia of the corpus callosum": "HP:0006849", + "Hypoplasia of the ventral pons": "HP:0006850", + "Underdeveloped ventral pons": "HP:0006850", + "Symmetric spinal nerve root neurofibromas": "HP:0006851", + "Spinal nerve root neurofibromas, symmetric, multiple": "HP:0006851", + "Episodic generalized hypotonia": "HP:0006852", + "Episodic generalised hypotonia": "HP:0006852", + "Cerebellar vermis atrophy": "HP:0006855", + "Atrophy of cerebellar vermis": "HP:0006855", + "Atrophy of the cerebellar vermis": "HP:0006855", + "Vermian atrophy": "HP:0006855", + "Impaired distal proprioception": "HP:0006858", + "Distal sensory loss of proprioception": "HP:0006858", + "Posterior leukoencephalopathy": "HP:0006859", + "Severe expressive language delay": "HP:0006863", + "Sensorimotor polyneuropathy affecting arms more than legs": "HP:0006865", + "Midline central nervous system lipomas": "HP:0006866", + "Midline CNS lipomas": "HP:0006866", + "Lobar holoprosencephaly": "HP:0006870", + "Cerebral hypoplasia": "HP:0006872", + "Small cerebrum": "HP:0006872", + "Underdeveloped cerebrum": "HP:0006872", + "Symmetrical progressive peripheral demyelination": "HP:0006873", + "obsolete Mental retardation, in some": "HP:0006877", + "Pontocerebellar atrophy": "HP:0006879", + "Cerebellopontine atrophy": "HP:0006879", + "Cerebellar hemangioblastoma": "HP:0006880", + "Hemangioblastoma, sporadic cerebellar": "HP:0006880", + "Diffuse peripheral demyelination": "HP:0006881", + "Severe hydrocephalus": "HP:0006882", + "Impaired distal vibration sensation": "HP:0006886", + "Decreased distal vibration sense": "HP:0006886", + "Intellectual disability, progressive": "HP:0006887", + "Mental retardation, progressive": "HP:0006887", + "Progressive mental retardation": "HP:0006887", + "Meningoencephalocele": "HP:0006888", + "Intellectual disability, borderline": "HP:0006889", + "Mental retardation, borderline": "HP:0006889", + "Thick cerebral cortex": "HP:0006891", + "Frontotemporal cerebral atrophy": "HP:0006892", + "Cerebral atrophy, frontotemporal": "HP:0006892", + "obsolete Severely dysplastic cerebellum": "HP:0006893", + "Hypoplastic olfactory lobes": "HP:0006894", + "Lower limb hypertonia": "HP:0006895", + "Hypnopompic hallucination": "HP:0006896", + "Hallucinations while awaking": "HP:0006896", + "Abducens palsy": "HP:0006897", + "Abducens nerve palsy": "HP:0006897", + "Abducens nerve paralysis": "HP:0006897", + "Abducens nerve paresis": "HP:0006897", + "Cranial nerve VI palsy": "HP:0006897", + "Lateral rectus muscle denervation paresis": "HP:0006897", + "Sixth nerve palsy": "HP:0006897", + "Fusion of the cerebellar hemispheres": "HP:0006899", + "obsolete Impaired thermal sensitivity": "HP:0006901", + "Congenital peripheral neuropathy": "HP:0006903", + "Late-onset spinocerebellar degeneration": "HP:0006904", + "Congenital intracerebral calcification": "HP:0006906", + "Frontal cortical atrophy": "HP:0006913", + "Frontal cortex degeneration": "HP:0006913", + "Inability to walk by childhood/adolescence": "HP:0006915", + "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material": "HP:0006916", + "Intraaxonal accumulation of curvilinear profiles": "HP:0006916", + "Diffuse cerebral sclerosis": "HP:0006918", + "obsolete Abnormal aggressive, impulsive or violent behavior": "HP:0006919", + "Axial muscle stiffness": "HP:0006921", + "obsolete Metachromatic leukodystrophy variant": "HP:0006926", + "Unilateral polymicrogyria": "HP:0006927", + "Hypoglycemic encephalopathy": "HP:0006929", + "Frontoparietal cortical dysplasia": "HP:0006930", + "Pericallosal lipoma": "HP:0006931", + "Lipoma of corpus callosum": "HP:0006931", + "Transient psychotic episodes": "HP:0006932", + "Brief psychotic episodes": "HP:0006932", + "Brief reactive psychosis": "HP:0006932", + "Congenital nystagmus": "HP:0006934", + "Nystagmus, congenital": "HP:0006934", + "Impaired distal tactile sensation": "HP:0006937", + "Decreased distal touch sense": "HP:0006937", + "Decreased touch sensation in extremities": "HP:0006937", + "Impaired vibration sensation at ankles": "HP:0006938", + "Decreased vibration sense at ankles": "HP:0006938", + "Decreased vibration sense in feet": "HP:0006938", + "Diffuse spongiform leukoencephalopathy": "HP:0006943", + "Abolished vibration sense": "HP:0006944", + "Apallesthesia": "HP:0006944", + "Recurrent meningitis": "HP:0006946", + "Episodic peripheral neuropathy": "HP:0006949", + "Retrocerebellar cyst": "HP:0006951", + "Olivopontocerebellar hypoplasia": "HP:0006955", + "Lateral ventricle dilatation": "HP:0006956", + "Dilatation of lateral cerebral ventricles": "HP:0006956", + "Dilation of lateral ventricles": "HP:0006956", + "Enlarged lateral ventricles": "HP:0006956", + "obsolete Loss of ability to walk": "HP:0006957", + "Abnormal auditory evoked potentials": "HP:0006958", + "Abnormal brainstem auditory-evoked potentials": "HP:0006958", + "Proximal spinal muscular atrophy": "HP:0006959", + "Choroid plexus calcification": "HP:0006960", + "Calcified choroid plexus": "HP:0006960", + "Jerky head movements": "HP:0006961", + "Head jerking": "HP:0006961", + "Jerking head movements": "HP:0006961", + "Gait instability, worse in the dark": "HP:0006962", + "Unstable walking, worse in the dark": "HP:0006962", + "Cerebral cortical neurodegeneration": "HP:0006964", + "Acute necrotizing encephalopathy": "HP:0006965", + "Periventricular leukomalacia": "HP:0006970", + "PVL": "HP:0006970", + "Necrotizing encephalopathy": "HP:0006976", + "Deficit in grammar": "HP:0006977", + "Grammar-specific speech disorder": "HP:0006977", + "Dysmyelinating leukodystrophy": "HP:0006978", + "Sleep-wake cycle disturbance": "HP:0006979", + "Internal-clock disorders": "HP:0006979", + "Sleep phase disturbance": "HP:0006979", + "Sleep-wake cycle disorders": "HP:0006979", + "Progressive leukoencephalopathy": "HP:0006980", + "Leukoencephalopathy, progressive": "HP:0006980", + "obsolete Slowly progressive spastic quadriparesis": "HP:0006983", + "obsolete Distal sensory loss of all modalities": "HP:0006984", + "Upper limb spasticity": "HP:0006986", + "Spastic upper extremities": "HP:0006986", + "Spastic upper extremity": "HP:0006986", + "Spastic upper limb": "HP:0006986", + "Spastic upper limbs": "HP:0006986", + "Spasticity in upper extremities": "HP:0006986", + "Spasticity in upper extremity": "HP:0006986", + "Spasticity in upper limb": "HP:0006986", + "Spasticity in upper limbs": "HP:0006986", + "Spasticity of upper extremities": "HP:0006986", + "Spasticity of upper extremity": "HP:0006986", + "Spasticity of upper limb": "HP:0006986", + "Spasticity of upper limbs": "HP:0006986", + "Uncontrollable movement in upper arms": "HP:0006986", + "Upper extremities spasticity": "HP:0006986", + "Upper extremity spasticity": "HP:0006986", + "Alobar holoprosencephaly": "HP:0006988", + "Dysplastic corpus callosum": "HP:0006989", + "Dysgenesis of corpus callosum": "HP:0006989", + "Dysplasia of corpus callosum": "HP:0006989", + "Myelin-dependent gliosis": "HP:0006990", + "Anterior basal encephalocele": "HP:0006992", + "Diffuse leukoencephalopathy": "HP:0006994", + "Basal ganglia gliosis": "HP:0006999", + "Gliosis in the basal ganglia": "HP:0006999", + "Morning myoclonic jerks": "HP:0007000", + "Loss of Purkinje cells in the cerebellar vermis": "HP:0007001", + "Motor axonal neuropathy": "HP:0007002", + "Distal motor neuropathy": "HP:0007002", + "Length dependent motor neuropathy": "HP:0007002", + "Dorsal column degeneration": "HP:0007006", + "Cavitation of the basal ganglia": "HP:0007007", + "Central nervous system degeneration": "HP:0007009", + "CNS degeneration": "HP:0007009", + "Poor fine motor coordination": "HP:0007010", + "Fine motor disability": "HP:0007010", + "Fine motor impairment": "HP:0007010", + "Fine motor skill dysfunction": "HP:0007010", + "Impaired fine motor skills": "HP:0007010", + "Fourth cranial nerve palsy": "HP:0007011", + "Trochlear nerve palsy": "HP:0007011", + "Poor gross motor coordination": "HP:0007015", + "Gross motor impairment": "HP:0007015", + "Corticospinal tract hypoplasia": "HP:0007016", + "Progressive forgetfulness": "HP:0007017", + "Forgetfullness": "HP:0007017", + "Attention deficit hyperactivity disorder": "HP:0007018", + "ADHD": "HP:0007018", + "Attention deficit": "HP:0007018", + "Attention deficit disorder": "HP:0007018", + "Attention deficit-hyperactivity disorder": "HP:0007018", + "Attention deficits": "HP:0007018", + "Childhood attention deficit/hyperactivity disorder": "HP:0007018", + "Progressive spastic paraplegia": "HP:0007020", + "Pain insensitivity": "HP:0007021", + "Absence of pain sensation": "HP:0007021", + "Antenatal intracerebral hemorrhage": "HP:0007023", + "Antenatal intracerebral haemorrhage": "HP:0007023", + "Pseudobulbar paralysis": "HP:0007024", + "Pseudobulbar palsy": "HP:0007024", + "Pseudobulbar syndrome": "HP:0007024", + "Poorly formed metencephalon": "HP:0007027", + "Cerebral berry aneurysm": "HP:0007029", + "Cerebral saccular aneurysm": "HP:0007029", + "Nonprogressive encephalopathy": "HP:0007030", + "Cerebellar dysplasia": "HP:0007033", + "Generalized hyperreflexia": "HP:0007034", + "Generalised hyperreflexia": "HP:0007034", + "Anterior encephalocele": "HP:0007035", + "Sincipital encephalocele": "HP:0007035", + "Hypoplasia of olfactory tract": "HP:0007036", + "Underdeveloped olfactory tract": "HP:0007036", + "Symmetric lesions of the basal ganglia": "HP:0007039", + "Chronic lymphocytic meningitis": "HP:0007041", + "Focal white matter lesions": "HP:0007042", + "Midline brain calcifications": "HP:0007045", + "Atrophy of the dentate nucleus": "HP:0007047", + "Large basal ganglia": "HP:0007048", + "Multifocal cerebral white matter abnormalities": "HP:0007052", + "Proximal hyperreflexia": "HP:0007054", + "Hyperreflexia proximally": "HP:0007054", + "Poor hand-eye coordination": "HP:0007057", + "Generalized cerebral atrophy/hypoplasia": "HP:0007058", + "Generalised cerebral atrophy/hypoplasia": "HP:0007058", + "Generalised cerebral degeneration/underdevelopment": "HP:0007058", + "Generalized cerebral degeneration/underdevelopment": "HP:0007058", + "Aplasia of the inferior half of the cerebellar vermis": "HP:0007063", + "Absent inferior half of the cerebellar vermis": "HP:0007063", + "Progressive language deterioration": "HP:0007064", + "Disorganization of the anterior cerebellar vermis": "HP:0007065", + "Disorganisation of the anterior cerebellar vermis": "HP:0007065", + "Proximal limb muscle stiffness": "HP:0007066", + "Distal peripheral sensory neuropathy": "HP:0007067", + "Peripheral sensory neuropathy, distal": "HP:0007067", + "Inferior cerebellar vermis hypoplasia": "HP:0007068", + "Hypoplasia of inferior vermis": "HP:0007068", + "Inferior vermis hypoplasia": "HP:0007068", + "Profound static encephalopathy": "HP:0007069", + "Thick corpus callosum": "HP:0007074", + "Abnormal size of corpus callosum": "HP:0007074", + "Large corpus callosum": "HP:0007074", + "Extrapyramidal muscular rigidity": "HP:0007076", + "Decreased amplitude of sensory action potentials": "HP:0007078", + "obsolete Late-onset muscular dystrophy": "HP:0007081", + "Dilated third ventricle": "HP:0007082", + "Hyperactive patellar reflex": "HP:0007083", + "Hyperreflexia in knees": "HP:0007083", + "Overactive knee reflex": "HP:0007083", + "Brisk knee jerk": "HP:0007083", + "Social and occupational deterioration": "HP:0007086", + "obsolete Involuntary jerking movements": "HP:0007087", + "Facial-lingual fasciculations": "HP:0007089", + "obsolete Frontoparietal polymicrogyria": "HP:0007095", + "Hypoplasia of the optic tract": "HP:0007096", + "Underdeveloped optic tract": "HP:0007096", + "Cranial nerve motor loss": "HP:0007097", + "Paroxysmal choreoathetosis": "HP:0007098", + "Choreoathetosis, episodic": "HP:0007098", + "Choreoathetosis, intermittent": "HP:0007098", + "Chiari type I malformation": "HP:0007099", + "Arnold Chiari type I malformation": "HP:0007099", + "Arnold-Chiari type I malformation": "HP:0007099", + "Chiari I malformation": "HP:0007099", + "Progressive ventriculomegaly": "HP:0007100", + "Hypointensity of cerebral white matter on MRI": "HP:0007103", + "White matter hypointensities on MRI": "HP:0007103", + "Prolonged somatosensory evoked potentials": "HP:0007104", + "Infantile encephalopathy": "HP:0007105", + "Segmental peripheral demyelination": "HP:0007107", + "Demyelinating peripheral neuropathy": "HP:0007108", + "Periventricular cysts": "HP:0007109", + "Central hypoventilation": "HP:0007110", + "Chronic hepatic encephalopathy": "HP:0007111", + "Temporal cortical atrophy": "HP:0007112", + "Naso-orbital encephalocele": "HP:0007115", + "Orbital encephalocele": "HP:0007115", + "Corticospinal tract atrophy": "HP:0007117", + "Subcortical dementia": "HP:0007123", + "Proximal amyotrophy": "HP:0007126", + "Muscle atrophy, proximal": "HP:0007126", + "Proximal muscle atrophy": "HP:0007126", + "Proximal muscle wasting": "HP:0007126", + "Symmetric proximal muscular atrophy": "HP:0007126", + "Symmetrical, proximal limb muscle atrophy": "HP:0007126", + "Wasting of muscles near the body": "HP:0007126", + "Cerebellar medulloblastoma": "HP:0007129", + "Acute demyelinating polyneuropathy": "HP:0007131", + "Pallidal degeneration": "HP:0007132", + "Progressive peripheral neuropathy": "HP:0007133", + "Progressive polyneuropathy": "HP:0007133", + "Sensorimotor neuropathy": "HP:0007141", + "Mixed polyneuropathy": "HP:0007141", + "Nerve damage causing decreased feeling and movement": "HP:0007141", + "Sensorimotor peripheral neuropathy": "HP:0007141", + "Bilateral basal ganglia lesions": "HP:0007146", + "Distal upper limb amyotrophy": "HP:0007149", + "Distal upper limb muscle atrophy": "HP:0007149", + "Progressive extrapyramidal movement disorder": "HP:0007153", + "Asymmetric limb muscle stiffness": "HP:0007156", + "Progressive extrapyramidal muscular rigidity": "HP:0007158", + "Progressive extrapyramidal rigidity": "HP:0007158", + "Fluctuations in consciousness": "HP:0007159", + "Diffuse demyelination of the cerebral white matter": "HP:0007162", + "obsolete Corticospinal tract disease in lower limbs": "HP:0007163", + "Slowed slurred speech": "HP:0007164", + "Periventricular heterotopia": "HP:0007165", + "Periventricular gray matter heterotopia": "HP:0007165", + "Periventricular grey matter heterotopia": "HP:0007165", + "Periventricular neuronal heterotopia": "HP:0007165", + "Subependymal gray matter heterotopia": "HP:0007165", + "Subependymal grey matter heterotopia": "HP:0007165", + "Subependymal neuronal heterotopia": "HP:0007165", + "Paroxysmal dyskinesia": "HP:0007166", + "Involuntary dystonic or choreiform movements": "HP:0007166", + "Motor polyneuropathy": "HP:0007178", + "Peripheral motor neuropathy": "HP:0007178", + "Absent smooth pursuit": "HP:0007179", + "Interosseus muscle atrophy": "HP:0007181", + "Interosseous muscular atrophy": "HP:0007181", + "Peripheral hypomyelination": "HP:0007182", + "Focal T2 hyperintense basal ganglia lesion": "HP:0007183", + "Hyperintense lesions in the basal ganglia on MRI": "HP:0007183", + "Loss of consciousness": "HP:0007185", + "Fainting": "HP:0007185", + "Passing out": "HP:0007185", + "Focal lissencephaly": "HP:0007187", + "Congenital facial diplegia": "HP:0007188", + "Congenital bilateral facial palsy": "HP:0007188", + "Congenital bilateral facial weakness": "HP:0007188", + "Neuronal loss in the cerebral cortex": "HP:0007190", + "Bilateral tonic-clonic seizure on awakening": "HP:0007193", + "Generalised tonic-clonic seizures on awakening": "HP:0007193", + "Generalized tonic-clonic seizures on awakening": "HP:0007193", + "Morning generalised tonic-clonic seizures": "HP:0007193", + "Morning generalized tonic-clonic seizures": "HP:0007193", + "Progressive spastic paraparesis": "HP:0007199", + "Episodic hypersomnia": "HP:0007200", + "Idiopathic hypersomnia": "HP:0007200", + "Recurrent hypersomnia": "HP:0007200", + "Cerebral artery atherosclerosis": "HP:0007201", + "Plaque build-up in cerebral artery": "HP:0007201", + "Diffuse white matter abnormalities": "HP:0007204", + "Hemimegalencephaly": "HP:0007206", + "Photosensitive tonic-clonic seizure": "HP:0007207", + "Photically induced tonic-clonic seizure": "HP:0007207", + "Photosensitive tonic-clonic seizures": "HP:0007207", + "Seizures, tonic-clonic, photosensitive": "HP:0007207", + "Irregular myelin loops": "HP:0007208", + "Facial paralysis": "HP:0007209", + "Facial paresis": "HP:0007209", + "Lower limb amyotrophy": "HP:0007210", + "Periodic hyperkalemic paralysis": "HP:0007215", + "Hyperkalemic periodic paralysis": "HP:0007215", + "Demyelinating motor neuropathy": "HP:0007220", + "Progressive truncal ataxia": "HP:0007221", + "obsolete Macrogyria": "HP:0007227", + "Intracerebral periventricular calcifications": "HP:0007229", + "Decreased distal sensory nerve action potential": "HP:0007230", + "Spinocerebellar tract disease in lower limbs": "HP:0007232", + "Clusters of axonal regeneration": "HP:0007233", + "Recurrent subcortical infarcts": "HP:0007236", + "Nonarteriosclerotic cerebral calcification": "HP:0007238", + "Cerebral calcification, nonarteriosclerotic": "HP:0007238", + "Congenital encephalopathy": "HP:0007239", + "Progressive gait ataxia": "HP:0007240", + "Gait ataxia, progressive": "HP:0007240", + "Decreased number of small peripheral myelinated nerve fibers": "HP:0007249", + "Decreased number of small peripheral myelinated nerve fibres": "HP:0007249", + "Recurrent external ophthalmoplegia": "HP:0007250", + "Abnormal pyramidal sign": "HP:0007256", + "Corticospinal signs": "HP:0007256", + "Pyramidal signs": "HP:0007256", + "Pyramidal tract signs": "HP:0007256", + "Severe demyelination of the white matter": "HP:0007258", + "Type II lissencephaly": "HP:0007260", + "Cobblestone lissencephaly": "HP:0007260", + "Lissencephaly type II": "HP:0007260", + "Type 2 lissencephaly": "HP:0007260", + "Symmetric peripheral demyelination": "HP:0007262", + "Spinocerebellar atrophy": "HP:0007263", + "Absent mesencephalon": "HP:0007265", + "Cerebral dysmyelination": "HP:0007266", + "Areas of dysmyelination on MRI": "HP:0007266", + "Dysmyelination of the brain": "HP:0007266", + "White matter dysmyelination/demyelination": "HP:0007266", + "Chronic axonal neuropathy": "HP:0007267", + "Chronic sural axonal neuropathy": "HP:0007267", + "Aprosencephaly": "HP:0007268", + "Spinal muscular atrophy": "HP:0007269", + "Spinal muscle degeneration": "HP:0007269", + "Spinal muscle wasting": "HP:0007269", + "Atypical absence seizure": "HP:0007270", + "Atypical absence": "HP:0007270", + "Atypical absence seizures": "HP:0007270", + "Atypical petit mal seizures": "HP:0007270", + "Occipital myelomeningocele": "HP:0007271", + "Progressive psychomotor deterioration": "HP:0007272", + "Progressive mental and motor deterioration": "HP:0007272", + "Recurrent bacterial meningitis": "HP:0007274", + "Paucity of anterior horn motor neurons": "HP:0007277", + "Acute infantile spinal muscular atrophy": "HP:0007280", + "Developmental stagnation": "HP:0007281", + "Developmental arrest": "HP:0007281", + "Facial palsy secondary to cranial hyperostosis": "HP:0007285", + "Facial palsy caused by enlargement of cranial bones": "HP:0007285", + "Facial palsy caused by excessive growth of facial bones": "HP:0007285", + "Facial palsy caused by overgrowth of cranial bones": "HP:0007285", + "Facial palsy secondary to hypertrophy of cranial bones": "HP:0007285", + "Horizontal jerk nystagmus": "HP:0007286", + "Limb fasciculations": "HP:0007289", + "Limb fasciculation": "HP:0007289", + "Posterior fossa cyst": "HP:0007291", + "Anterior sacral meningocele": "HP:0007293", + "Chaotic rapid conjugate ocular movements": "HP:0007295", + "Dysfunction of lateral corticospinal tracts": "HP:0007299", + "Oromotor apraxia": "HP:0007301", + "Oral-motor apraxia": "HP:0007301", + "Bipolar affective disorder": "HP:0007302", + "Bipolar depression": "HP:0007302", + "Bipolar disorder": "HP:0007302", + "Manic depressive": "HP:0007302", + "CNS demyelination": "HP:0007305", + "Demyelination in central white matter": "HP:0007305", + "Rapid neurologic deterioration": "HP:0007307", + "Extrapyramidal dyskinesia": "HP:0007308", + "Short stepped shuffling gait": "HP:0007311", + "Short stepped shuffling walk": "HP:0007311", + "Cerebral degeneration": "HP:0007313", + "Neuroaxonal degeneration in the brain": "HP:0007313", + "obsolete White matter neuronal heterotopia": "HP:0007314", + "obsolete Involuntary writhing movements": "HP:0007316", + "Deep white matter hypodensities": "HP:0007321", + "Deep cerebral white matter hypodensities": "HP:0007321", + "Generalized dystonia": "HP:0007325", + "Generalised dystonia": "HP:0007325", + "Progressive choreoathetosis": "HP:0007326", + "Mixed demyelinating and axonal polyneuropathy": "HP:0007327", + "Impaired pain sensation": "HP:0007328", + "Decreased pain sensation": "HP:0007328", + "Decreased pinprick sensation": "HP:0007328", + "Frontoethmoidal encephalocele": "HP:0007330", + "Frontal encephalocele": "HP:0007330", + "Focal hemifacial clonic seizure": "HP:0007332", + "Hemifacial seizures": "HP:0007332", + "Hypoplasia of the frontal lobes": "HP:0007333", + "Frontal lobe hypoplasia": "HP:0007333", + "Hypoplastic frontal lobes": "HP:0007333", + "Underdeveloped frontal lobe": "HP:0007333", + "Bilateral tonic-clonic seizure with focal onset": "HP:0007334", + "Focal seizure with secondary generalisation": "HP:0007334", + "Focal seizure with secondary generalization": "HP:0007334", + "Focal to bilateral tonic-clonic seizure": "HP:0007334", + "Generalised tonic-clonic seizure with focal onset": "HP:0007334", + "Generalised tonic-clonic seizure with partial onset": "HP:0007334", + "Generalised tonic-clonic seizures with focal onset": "HP:0007334", + "Generalized tonic-clonic seizure with focal onset": "HP:0007334", + "Generalized tonic-clonic seizure with partial onset": "HP:0007334", + "Generalized tonic-clonic seizures with focal onset": "HP:0007334", + "Partial seizure with secondary generalisation": "HP:0007334", + "Partial seizure with secondary generalization": "HP:0007334", + "Partial seizures with secondary generalisation": "HP:0007334", + "Partial seizures with secondary generalization": "HP:0007334", + "Secondarily generalised tonic-clonic seizure": "HP:0007334", + "Secondarily generalised tonic-clonic seizures": "HP:0007334", + "Secondarily generalized tonic-clonic seizure": "HP:0007334", + "Secondarily generalized tonic-clonic seizures": "HP:0007334", + "Secondary generalised tonic clonic seizures": "HP:0007334", + "Secondary generalised tonic-clonic seizures": "HP:0007334", + "Secondary generalized tonic clonic seizures": "HP:0007334", + "Secondary generalized tonic-clonic seizures": "HP:0007334", + "Recurrent encephalopathy": "HP:0007335", + "Recurrent cerebellar and extrapyramidal encephalopathy": "HP:0007335", + "Hypermetric saccades": "HP:0007338", + "Lower limb muscle weakness": "HP:0007340", + "Leg weakness": "HP:0007340", + "Lower extremity weakness": "HP:0007340", + "Lower limb weakness": "HP:0007340", + "Muscle weakness in lower limbs": "HP:0007340", + "Diffuse swelling of cerebral white matter": "HP:0007341", + "Abnormal morphology of the limbic system": "HP:0007343", + "Limbic malformation": "HP:0007343", + "Atrophy/Degeneration involving the spinal cord": "HP:0007344", + "Atrophic and degenerative changes in the spinal cord": "HP:0007344", + "Subcortical white matter calcifications": "HP:0007346", + "Hypoplasia of the pyramidal tract": "HP:0007348", + "Upper limb hyperreflexia": "HP:0007350", + "Hyperreflexia in upper limbs": "HP:0007350", + "Upper limb postural tremor": "HP:0007351", + "Postural tremor of arms": "HP:0007351", + "Cerebellar calcifications": "HP:0007352", + "Amyotrophic lateral sclerosis": "HP:0007354", + "Lou Gehrig's disease": "HP:0007354", + "Focal-onset seizure": "HP:0007359", + "Focal onset seizure": "HP:0007359", + "Focal seizure": "HP:0007359", + "Focal seizures": "HP:0007359", + "Focal-onset seizures": "HP:0007359", + "Partial seizure": "HP:0007359", + "Partial seizures": "HP:0007359", + "Seizure affecting one half of brain": "HP:0007359", + "Aplasia/Hypoplasia of the cerebellum": "HP:0007360", + "Absent/small cerebellum": "HP:0007360", + "Absent/underdeveloped cerebellum": "HP:0007360", + "Atrophy/Degeneration affecting the cerebellum": "HP:0007360", + "Atrophy/Hypoplasia of the cerebellum": "HP:0007360", + "Cerebellar hypoplasia/atrophy": "HP:0007360", + "Abnormal pons morphology": "HP:0007361", + "Abnormality of the pons": "HP:0007361", + "Aplasia/Hypoplasia of the brainstem": "HP:0007362", + "Absent/small brainstem": "HP:0007362", + "Absent/underdeveloped brainstem": "HP:0007362", + "Aplasia/Hypoplasia of the pyramidal tract": "HP:0007363", + "Aplasia/Hypoplasia of the cerebrum": "HP:0007364", + "Absent/small cerebrum": "HP:0007364", + "Absent/underdeveloped cerebrum": "HP:0007364", + "Aplasia/Hypoplasia involving the corticospinal tracts": "HP:0007365", + "Atrophy/Degeneration affecting the brainstem": "HP:0007366", + "Brainstem atrophy": "HP:0007366", + "Atrophy/Degeneration affecting the central nervous system": "HP:0007367", + "Atrophy/Degeneration affecting the CNS": "HP:0007367", + "Atrophy/Degeneration affecting the cerebrum": "HP:0007369", + "Aplasia/Hypoplasia of the corpus callosum": "HP:0007370", + "Absent/hypoplastic corpus callosum": "HP:0007370", + "Agenesis/hypoplastic corpus callosum": "HP:0007370", + "Complete or partial absence of the corpus callosum": "HP:0007370", + "Hypoplasia or absence of the corpus callosum": "HP:0007370", + "Hypoplastic or absent corpus callosum": "HP:0007370", + "Corpus callosum atrophy": "HP:0007371", + "Atrophic corpus callosum": "HP:0007371", + "Atrophy of the corpus callosum": "HP:0007371", + "Atrophy/Degeneration of the corpus callosum": "HP:0007371", + "Atrophy/Degeneration involving the corticospinal tracts": "HP:0007372", + "Motor neuron atrophy": "HP:0007373", + "Motor neuron degeneration": "HP:0007373", + "Atrophy/Degeneration involving the caudate nucleus": "HP:0007374", + "Abnormal septum pellucidum morphology": "HP:0007375", + "Abnormality of the septum pellucidum": "HP:0007375", + "Abnormal choroid plexus morphology": "HP:0007376", + "Abnormality of somatosensory evoked potentials": "HP:0007377", + "Abnormality of SSEPs": "HP:0007377", + "Neoplasm of the gastrointestinal tract": "HP:0007378", + "GI tract tumor": "HP:0007378", + "GI tract tumour": "HP:0007378", + "Gastrointestinal tract neoplasia": "HP:0007378", + "Gastrointestinal tract neoplasm": "HP:0007378", + "Gastrointestinal tract tumor": "HP:0007378", + "Gastrointestinal tract tumour": "HP:0007378", + "Neoplasm of the GI tract": "HP:0007378", + "Neoplasm of the genitourinary tract": "HP:0007379", + "Genitourinary tract neoplasm": "HP:0007379", + "Genitourinary tract tumors": "HP:0007379", + "Genitourinary tract tumours": "HP:0007379", + "Neoplasm of the GU tract": "HP:0007379", + "Genitourinary tract neoplasia": "HP:0007379", + "Facial telangiectasia": "HP:0007380", + "Facial telangiectatic vessels": "HP:0007380", + "Telangiectasia, facial": "HP:0007380", + "Congenital exfoliative erythroderma": "HP:0007381", + "Congenital localized absence of skin": "HP:0007383", + "Congenital localised absence of skin": "HP:0007383", + "Congenital localised skin absence": "HP:0007383", + "Congenital localized skin absence": "HP:0007383", + "Aberrant melanosome maturation": "HP:0007384", + "Aplasia cutis congenita of scalp": "HP:0007385", + "Defect of scalp": "HP:0007385", + "Focal absence of scalp tissue": "HP:0007385", + "Scalp defect": "HP:0007385", + "Solitary scalp defect": "HP:0007385", + "Scalp aplasia cutis congenita": "HP:0007385", + "Hypoplastic sweat glands": "HP:0007387", + "Underdeveloped sweat glands": "HP:0007387", + "Hyperkeratosis with erythema": "HP:0007390", + "Excessive wrinkled skin": "HP:0007392", + "Prominent superficial blood vessels": "HP:0007394", + "Prominent superficial vasculature": "HP:0007394", + "Postnatal-onset ichthyosiform erythroderma": "HP:0007395", + "Postnatal-onset ichthyosis": "HP:0007395", + "Early cutaneous photosensitivity": "HP:0007396", + "Sun sensitivity occurring early in life": "HP:0007396", + "Axillary apocrine gland hypoplasia": "HP:0007397", + "Asymmetric, linear skin defects": "HP:0007398", + "Irregular hyperpigmentation": "HP:0007400", + "Macular atrophy": "HP:0007401", + "Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines": "HP:0007402", + "Hypertrophy of skin of soles": "HP:0007403", + "Thick skin of soles": "HP:0007403", + "Nonepidermolytic palmoplantar hyperkeratosis": "HP:0007404", + "Nonepidermolytic palmoplantar keratoderma": "HP:0007404", + "Hyperpigmentation of eyelids": "HP:0007406", + "Dark eyelids": "HP:0007406", + "Brown eyelids": "HP:0007406", + "Pigmentation of eyelids": "HP:0007406", + "Excessive skin wrinkling on dorsum of hands and fingers": "HP:0007407", + "Excessive skin wrinkling on back of hands and fingers": "HP:0007407", + "Tegumentary leishmaniasis susceptibility": "HP:0007408", + "obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs": "HP:0007409", + "Palmoplantar hyperhidrosis": "HP:0007410", + "Excessive sweating of palms and soles": "HP:0007410", + "Hyperhidrosis of palms and soles": "HP:0007410", + "Hypoplastic-absent sebaceous glands": "HP:0007411", + "Macular hyperpigmented dermopathy": "HP:0007412", + "Nevus flammeus of the forehead": "HP:0007413", + "Port-wine stain on forehead": "HP:0007413", + "Neonatal wrinkled skin of hands and feet": "HP:0007414", + "Wrinkled skin of hands and feet in newborn": "HP:0007414", + "Discoid lupus rash": "HP:0007417", + "Discoid lupus erythematosus": "HP:0007417", + "Alopecia totalis": "HP:0007418", + "Total alopecia": "HP:0007418", + "Spontaneous hematomas": "HP:0007420", + "Telangiectases of the cheeks": "HP:0007421", + "Telangiectasia on the cheeks": "HP:0007421", + "Hyperextensible skin of face": "HP:0007425", + "Hyperelastic face skin": "HP:0007425", + "Stretchable face skin": "HP:0007425", + "Reticulated skin pigmentation": "HP:0007427", + "Reticular pigmentation pattern": "HP:0007427", + "Reticulate skin pigmentation": "HP:0007427", + "Telangiectasia of the oral mucosa": "HP:0007428", + "Angioectasia of the oral mucosa": "HP:0007428", + "Angioectasia of the oral mucous membrane": "HP:0007428", + "Spider veins of the oral mucosa": "HP:0007428", + "Telangiectasia of the oral mucous membrane": "HP:0007428", + "Few cafe-au-lait spots": "HP:0007429", + "Generalized edema": "HP:0007430", + "Generalised oedema": "HP:0007430", + "Generalised tissue oedema": "HP:0007430", + "Generalized tissue edema": "HP:0007430", + "Congenital ichthyosiform erythroderma": "HP:0007431", + "Congenital ichthyosis": "HP:0007431", + "Ichthyosis, congenital": "HP:0007431", + "Intermittent generalized erythematous papular rash": "HP:0007432", + "Intermittent generalised erythematous papular rash": "HP:0007432", + "Plaque-like facial hemangioma": "HP:0007434", + "Hemangioma, facial, plaque-like": "HP:0007434", + "obsolete Diffuse palmoplantar keratoderma": "HP:0007435", + "Hair-nail ectodermal dysplasia": "HP:0007436", + "Multiple cutaneous leiomyomas": "HP:0007437", + "Mottled pigmentation of the trunk and proximal extremities": "HP:0007438", + "Generalized keratosis follicularis": "HP:0007439", + "Generalised keratosis follicularis": "HP:0007439", + "Generalized hyperpigmentation": "HP:0007440", + "Generalised hyperpigmentation": "HP:0007440", + "Hyperpigmented/hypopigmented macules": "HP:0007441", + "Partial albinism": "HP:0007443", + "Congenital partial albinism on face, trunk, or limbs": "HP:0007443", + "Congenital partial leucoderma": "HP:0007443", + "Partial absent skin pigmentation": "HP:0007443", + "Palmoplantar blistering": "HP:0007446", + "Diffuse palmoplantar hyperkeratosis": "HP:0007447", + "Diffuse palmoplantar keratoderma": "HP:0007447", + "Hyperkeratosis, diffuse palmoplantar": "HP:0007447", + "Hyperkeratosis over edematous areas": "HP:0007448", + "Confetti-like hypopigmented macules": "HP:0007449", + "Increased groin pigmentation with raindrop depigmentation": "HP:0007450", + "Ipsilateral lack of facial sweating": "HP:0007451", + "Midface capillary hemangioma": "HP:0007452", + "Midfacial capillary hemangioma": "HP:0007452", + "Flexural lichenification": "HP:0007453", + "Adermatoglyphia": "HP:0007455", + "Progressive reticulate hyperpigmentation": "HP:0007456", + "Prominent veins on trunk": "HP:0007457", + "Focal hyperextensible skin": "HP:0007458", + "Generalized anhidrosis": "HP:0007459", + "Generalised anhidrosis": "HP:0007459", + "Generalised anhydrosis": "HP:0007459", + "Generalised inability to sweat": "HP:0007459", + "Generalized anhydrosis": "HP:0007459", + "Generalized inability to sweat": "HP:0007459", + "Autoamputation of digits": "HP:0007460", + "Hemangiomatosis": "HP:0007461", + "Bitot spots of the conjunctiva": "HP:0007462", + "Bitot's spots": "HP:0007462", + "Sparse facial hair": "HP:0007464", + "Honeycomb palmoplantar hyperkeratosis": "HP:0007465", + "Midfrontal capillary hemangioma": "HP:0007466", + "Perifollicular hyperkeratosis": "HP:0007468", + "Palmoplantar cutis gyrata": "HP:0007469", + "Cutis gyrata of palms and soles": "HP:0007469", + "Periarticular subcutaneous nodules": "HP:0007470", + "Axillary and groin hyperpigmentation and hypopigmentation": "HP:0007471", + "Crusting erythematous dermatitis": "HP:0007473", + "Congenital bullous ichthyosiform erythroderma": "HP:0007475", + "Bullous congenital ichthyosiform erythroderma": "HP:0007475", + "Epidermolytic hyperkeratosis": "HP:0007475", + "Anhidrotic ectodermal dysplasia": "HP:0007476", + "Abnormal dermatoglyphics": "HP:0007477", + "Abnormal fingerprints": "HP:0007477", + "Dermatoglyphic abnormalities": "HP:0007477", + "Congenital nonbullous ichthyosiform erythroderma": "HP:0007479", + "Collodion baby": "HP:0007479", + "Congenital lamellar ichthyosis": "HP:0007479", + "Congenital non-bullous ichthyosis": "HP:0007479", + "Ichthyosis lammellaris": "HP:0007479", + "Ichthyosis, congenital, nonblistering": "HP:0007479", + "Nonbullous congenital ichthyosiform erythroderma": "HP:0007479", + "Nonbullous congenital ichthyosis": "HP:0007479", + "Decreased sweating due to autonomic dysfunction": "HP:0007480", + "Hyperpigmented nevi": "HP:0007481", + "Generalized papillary lesions": "HP:0007482", + "Generalised papillary lesions": "HP:0007482", + "Depigmentation/hyperpigmentation of skin": "HP:0007483", + "Absence of subcutaneous fat": "HP:0007485", + "Absent fat below the skin": "HP:0007485", + "General absence of subcutaneous fat": "HP:0007485", + "Lack of fatty tissue below the skin": "HP:0007485", + "Cavernous hemangioma of the face": "HP:0007486", + "Diffuse skin atrophy": "HP:0007488", + "Diffuse telangiectasia": "HP:0007489", + "Diffuse telangiectases": "HP:0007489", + "Telangiectases, random body distribution": "HP:0007489", + "Linear arrays of macular hyperkeratoses in flexural areas": "HP:0007490", + "Discrete 2 to 5-mm hyper- and hypopigmented macules": "HP:0007494", + "Prematurely aged appearance": "HP:0007495", + "Precociously senile appearance": "HP:0007495", + "Focal friction-related palmoplantar hyperkeratosis": "HP:0007497", + "Hyperkeratosis, palmoplantar, focal friction-related": "HP:0007497", + "Recurrent staphylococcal infections": "HP:0007499", + "Decreased number of sweat glands": "HP:0007500", + "Decreased sweat glands": "HP:0007500", + "Decreased sweat pores": "HP:0007500", + "Streaks of hyperkeratosis along each finger onto the palm": "HP:0007501", + "Follicular hyperkeratosis": "HP:0007502", + "Hyperkeratosis follicularis": "HP:0007502", + "Generalized ichthyosis": "HP:0007503", + "Generalised ichthyosis": "HP:0007503", + "Diffuse slow skin atrophy": "HP:0007504", + "Progressive hyperpigmentation": "HP:0007505", + "Congenital absence of skin of limbs": "HP:0007506", + "Missing skin on limbs since birth": "HP:0007506", + "Punctate palmar hyperkeratosis": "HP:0007508", + "Patchy hypo- and hyperpigmentation": "HP:0007509", + "Patchy hypo- and hyper-pigmentation": "HP:0007509", + "Focal dermal aplasia/hypoplasia": "HP:0007510", + "Mottled pigmentation of photoexposed areas": "HP:0007511", + "Generalized hypopigmentation": "HP:0007513", + "Fair skin": "HP:0007513", + "Generalised hypopigmentation": "HP:0007513", + "Pale pigmentation": "HP:0007513", + "Edema of the dorsum of hands": "HP:0007514", + "Edema of dorsum of hands": "HP:0007514", + "Oedema of dorsum of hands": "HP:0007514", + "Oedema of the dorsum of hands": "HP:0007514", + "Hypoplastic pilosebaceous units": "HP:0007515", + "Redundant skin on fingers": "HP:0007516", + "Extra skin on fingers": "HP:0007516", + "Palmoplantar cutis laxa": "HP:0007517", + "Excessive wrinkled skin of palms and soles": "HP:0007517", + "Furrowed palms and soles": "HP:0007517", + "Increased wrinkles of palms and soles": "HP:0007517", + "Wrinkled palms and soles": "HP:0007517", + "Wrinkled skin of hands and feet": "HP:0007517", + "obsolete Lack of subcutaneous fatty tissue": "HP:0007519", + "Irregular hyperpigmentation of back": "HP:0007521", + "Increased number of skin folds": "HP:0007522", + "Atypical neurofibromatosis": "HP:0007524", + "Yellow subcutaneous tissue covered by thin, scaly skin": "HP:0007525", + "Hypopigmented skin patches on arms": "HP:0007526", + "Hypopigmented upper extremeity skin patches": "HP:0007526", + "Patchy loss of skin color on arms": "HP:0007526", + "Patchy loss of skin colour on arms": "HP:0007526", + "Hidrotic ectodermal dysplasia": "HP:0007529", + "Punctate palmoplantar hyperkeratosis": "HP:0007530", + "Congenital posterior occipital alopecia": "HP:0007534", + "Hypopigmented streaks": "HP:0007535", + "Aplasia cutis congenita of midline scalp vertex": "HP:0007536", + "Severe photosensitivity": "HP:0007537", + "Severe sun sensitivity": "HP:0007537", + "Frontal cutaneous lipoma": "HP:0007541", + "Absent pigmentation of the ventral chest": "HP:0007542", + "obsolete Epidermal hyperkeratosis": "HP:0007543", + "Increased thickness of skin epidermis": "HP:0007543", + "Piebald skin depigmentation": "HP:0007544", + "Piebaldism": "HP:0007544", + "Congenital palmoplantar hyperkeratosis": "HP:0007545", + "Congenital palmoplantar keratoderma": "HP:0007545", + "Congenital palmoplantar keratodermia": "HP:0007545", + "Congenital palmoplantar keratosis": "HP:0007545", + "Linear hyperpigmentation": "HP:0007546", + "obsolete Palmoplantar keratosis with erythema and scale": "HP:0007548", + "Desquamation of skin soon after birth": "HP:0007549", + "Hypohidrosis or hyperhidrosis": "HP:0007550", + "Lack of sweating or excessive sweating": "HP:0007550", + "Abnormal subcutaneous fat tissue distribution": "HP:0007552", + "Abnormal fat tissue distribution below the skin": "HP:0007552", + "Congenital symmetrical palmoplantar keratosis": "HP:0007553", + "Confetti hypopigmentation pattern of lower leg skin": "HP:0007554", + "Plantar hyperkeratosis": "HP:0007556", + "Plantar hyperkeratoses": "HP:0007556", + "Localized epidermolytic hyperkeratosis": "HP:0007559", + "Localised epidermolytic hyperkeratosis": "HP:0007559", + "Unusual dermatoglyphics": "HP:0007560", + "obsolete Telangiectases in sun-exposed and nonexposed skin": "HP:0007561", + "Multiple cafe-au-lait spots": "HP:0007565", + "Multiple birthmarks": "HP:0007565", + "Multiple flat light-brown marks on skin": "HP:0007565", + "Index finger dermatoglyphic radial loop": "HP:0007566", + "Generalized seborrheic dermatitis": "HP:0007569", + "Generalised seborrheic dermatitis": "HP:0007569", + "Generalised seborrheic eczema": "HP:0007569", + "Generalized seborrheic eczema": "HP:0007569", + "Hyperkeratosis lenticularis perstans": "HP:0007570", + "Flegel disease": "HP:0007570", + "Hyperpigmented streaks": "HP:0007572", + "Late onset atopic dermatitis": "HP:0007573", + "Late onset baby eczema": "HP:0007573", + "Generalized bronze hyperpigmentation": "HP:0007574", + "Bronze skin": "HP:0007574", + "Generalised bronze hyperpigmentation": "HP:0007574", + "Palmar neurofibroma": "HP:0007576", + "Palmar neurofibromas": "HP:0007576", + "Mediosternal, longitudinal streak of hypopigmentation": "HP:0007581", + "Telangiectasia macularis eruptiva perstans": "HP:0007583", + "Skin fragility with non-scarring blistering": "HP:0007585", + "Telangiectases producing 'marbled' skin": "HP:0007586", + "Numerous pigmented freckles": "HP:0007587", + "Reticular hyperpigmentation": "HP:0007588", + "Reticulate hyperpigmentation": "HP:0007588", + "Aplasia cutis congenita on trunk or limbs": "HP:0007589", + "Aplasia cutis congenita over posterior parietal area": "HP:0007590", + "Aplasia/Hypoplasia of the eccrine sweat glands": "HP:0007592", + "Hypoplastic-absent eccrine sweat glands": "HP:0007592", + "Redundant skin in infancy": "HP:0007595", + "Excess skin in infancy": "HP:0007595", + "Painful subcutaneous lipomas": "HP:0007596", + "Painful noncancerous fat tissue tumor under the skin": "HP:0007596", + "Painful noncancerous fat tissue tumour under the skin": "HP:0007596", + "obsolete Congenital palmoplantar keratodermia": "HP:0007597", + "Bilateral single transverse palmar creases": "HP:0007598", + "Generalized reticulate brown pigmentation": "HP:0007599", + "Generalised reticulate brown pigmentation": "HP:0007599", + "Midline facial capillary hemangioma": "HP:0007601", + "Complex palmar dermatoglyphic pattern": "HP:0007602", + "Freckles in sun-exposed areas": "HP:0007603", + "Excessive wrinkling of palmar skin": "HP:0007605", + "Redundant, wrinkled skin of palms": "HP:0007605", + "Multiple cutaneous malignancies": "HP:0007606", + "Hypohidrotic ectodermal dysplasia": "HP:0007607", + "Abnormal palmar dermal ridges": "HP:0007608", + "Hypoproteinemic edema": "HP:0007609", + "Hypoproteinemic oedema": "HP:0007609", + "Blotching pigmentation of the skin": "HP:0007610", + "Spinous keratoses of palms and soles": "HP:0007613", + "Nevus flammeus nuchae": "HP:0007616", + "Port-wine stain on neck": "HP:0007616", + "Stork bite": "HP:0007616", + "Angel's kiss": "HP:0007616", + "Salmon patch": "HP:0007616", + "Fine, reticulate skin pigmentation": "HP:0007617", + "Subcutaneous calcification": "HP:0007618", + "Skin calcification": "HP:0007618", + "Cutaneous leiomyoma": "HP:0007620", + "Cutaneous leiomyomas": "HP:0007620", + "Cutaneous leiomyomata": "HP:0007620", + "Telangiectasia of extensor surfaces": "HP:0007621", + "Pigmentation anomalies of sun-exposed skin": "HP:0007623", + "Abnormal pigmentation in sun-exposed skin": "HP:0007623", + "Mandibular osteomyelitis": "HP:0007626", + "Lower jaw bone infection": "HP:0007626", + "Osteomyelitis, especially of the mandible": "HP:0007626", + "Mandibular condyle aplasia": "HP:0007627", + "Underdevelopment of condylar process of mandible": "HP:0007627", + "Absence of the condylar head of mandible": "HP:0007627", + "Absence of the condylar neck of mandible": "HP:0007627", + "Absence of the condylar process of mandible": "HP:0007627", + "Failure of development of condylar head of mandible": "HP:0007627", + "Failure of development of condylar neck of mandible": "HP:0007627", + "Failure of development of the condylar process of mandible": "HP:0007627", + "Underdevelopment of condylar head of mandible": "HP:0007627", + "Underdevelopment of condylar neck of mandible": "HP:0007627", + "Agenesis of condylar head of mandible": "HP:0007627", + "Agenesis of condylar neck of mandible": "HP:0007627", + "Agenesis of condylar process of mandible": "HP:0007627", + "Mandibular condyle hypoplasia": "HP:0007628", + "Decreased size of condylar process of mandible": "HP:0007628", + "Decreased size of mandibular condyle": "HP:0007628", + "Hypoplasia of condylar process of mandible": "HP:0007628", + "Hypoplasia of mandibular condyle": "HP:0007628", + "Hypoplasia of subcondylar region of mandible": "HP:0007628", + "Small mandibular condyle": "HP:0007628", + "Hypoplasia of condylar head of mandible": "HP:0007628", + "Hypoplasia of condylar neck of mandible": "HP:0007628", + "Small condylar head of mandible": "HP:0007628", + "Small condylar neck of mandible": "HP:0007628", + "Hypotrophic condylar process of mandible": "HP:0007628", + "Hypotrophic mandibular condyle": "HP:0007628", + "Bilateral microphthalmos": "HP:0007633", + "Decreased size of eyeballs": "HP:0007633", + "Decreased size of globes of eyes": "HP:0007633", + "Abnormally small eyeball on both sides": "HP:0007633", + "Microphthalmia, bilateral": "HP:0007633", + "Bilateral nanophthalmos": "HP:0007633", + "Nonarteritic anterior ischemic optic neuropathy": "HP:0007634", + "Nonarteritic anterior ischaemic optic neuropathy": "HP:0007634", + "Dyschromatopsia": "HP:0007641", + "Color blindness": "HP:0007641", + "Colour blindness": "HP:0007641", + "Congenital stationary night blindness": "HP:0007642", + "Congenital night blindness": "HP:0007642", + "Night blindness since birth": "HP:0007642", + "Static congenital hemeralopia": "HP:0007642", + "Night blindness, congenital": "HP:0007642", + "Night blindness, congenital stationary": "HP:0007642", + "Night blindness, congenital stationary, complete": "HP:0007642", + "Night blindness, stationary": "HP:0007642", + "Peripheral tractional retinal detachment": "HP:0007643", + "Peripheral traction retinal detachment": "HP:0007643", + "Tractional retinal detachment at the periphery of the retina": "HP:0007643", + "Absent lower eyelashes": "HP:0007646", + "Atrichia of lower eyelashes": "HP:0007646", + "Failure of development of lower eyelashes": "HP:0007646", + "Agenesis of lower eyelashes": "HP:0007646", + "Aplasia of lower eyelashes": "HP:0007646", + "Congenital extraocular muscle anomaly": "HP:0007647", + "Punctate cataract": "HP:0007648", + "Punctate lenticular opacities": "HP:0007648", + "Congenital hypertrophy of retinal pigment epithelium": "HP:0007649", + "Progressive ophthalmoplegia": "HP:0007650", + "Ectropion of lower eyelids": "HP:0007651", + "Lower eyelid folded out": "HP:0007651", + "Lower eyelid turned out": "HP:0007651", + "Everted lower eyelids": "HP:0007651", + "obsolete Retinal striation": "HP:0007654", + "Eversion of lateral third of lower eyelids": "HP:0007655", + "Lacrimal gland aplasia": "HP:0007656", + "Absent tear gland": "HP:0007656", + "Diffuse nuclear cataract": "HP:0007657", + "Large hyperpigmented retinal spots": "HP:0007658", + "obsolete Decreased retinal pigmentation with dispersion": "HP:0007659", + "Abnormality of chorioretinal pigmentation": "HP:0007661", + "Reduced visual acuity": "HP:0007663", + "Decreased central vision": "HP:0007663", + "Decreased clarity of vision": "HP:0007663", + "Decreased visual acuity": "HP:0007663", + "Poor visual acuity": "HP:0007663", + "Curly eyelashes": "HP:0007665", + "Peripheral cystoid retinal degeneration": "HP:0007667", + "Cystic retinal degeneration": "HP:0007667", + "Peripheral cystoid degeneration": "HP:0007667", + "Impaired pursuit initiation and maintenance": "HP:0007668", + "Abnormal vestibulo-ocular reflex": "HP:0007670", + "Abnormal vestibuloocular reflex": "HP:0007670", + "Progressive night blindness": "HP:0007675", + "Hypoplasia of the iris": "HP:0007676", + "Hypoplastic iris": "HP:0007676", + "Iris hypoplasia": "HP:0007676", + "Underdeveloped iris": "HP:0007676", + "Vitelliform-like macular lesions": "HP:0007677", + "Vitelliform macular lesions": "HP:0007677", + "Vitelliform macular dystrophy": "HP:0007677", + "Lacrimal duct stenosis": "HP:0007678", + "Narrowing of the tear duct": "HP:0007678", + "Nasolacrimal duct stenosis": "HP:0007678", + "Depigmented fundus": "HP:0007680", + "Peripheral retinal avascularization": "HP:0007685", + "Abnormal pupillary function": "HP:0007686", + "Unilateral ptosis": "HP:0007687", + "Dropping of one upper eyelid": "HP:0007687", + "Undetectable light- and dark-adapted electroretinogram": "HP:0007688", + "Absent cone and rod functions by electroretinogram": "HP:0007688", + "Absent rod-and cone-mediated responses on ERG": "HP:0007688", + "Map-dot-fingerprint corneal dystrophy": "HP:0007690", + "obsolete Short curly eyelashes": "HP:0007691", + "obsolete Nonnuclear polymorphic congenital cataract": "HP:0007692", + "Abnormal pupillary light reflex": "HP:0007695", + "Hypoplasia of the lower eyelids": "HP:0007697", + "Small lower eyelid": "HP:0007697", + "Decreased size of lower eyelid": "HP:0007697", + "Underdevelopment of lower eyelid": "HP:0007697", + "Short lower eyelid": "HP:0007697", + "Hypotrophic lower eyelid": "HP:0007697", + "obsolete Retinal pigment epithelial atrophy": "HP:0007698", + "Ocular anterior segment dysgenesis": "HP:0007700", + "Anterior chamber cleavage defect": "HP:0007700", + "Anterior chamber cleavage disorder": "HP:0007700", + "Anterior chamber malformation": "HP:0007700", + "Anterior chamber mesodermal anomalies": "HP:0007700", + "Anterior segment developmental abnormality": "HP:0007700", + "Anterior segment dysgenesis": "HP:0007700", + "Anterior segment mesencyhmal dysgenesis": "HP:0007700", + "Anterior segment ocular dysgenesis": "HP:0007700", + "obsolete Pigmentary retinal deposits": "HP:0007702", + "Abnormality of retinal pigmentation": "HP:0007703", + "Abnormal retinal pigmentation": "HP:0007703", + "Abnormality of RPE": "HP:0007703", + "Abnormality of retinal pigment epithelium": "HP:0007703", + "Retinal pigmentary anomaly": "HP:0007703", + "Abnormality of the retinal pigment epithelium": "HP:0007703", + "Paroxysmal involuntary eye movements": "HP:0007704", + "Abnormal eye movements, paroxysmal": "HP:0007704", + "Corneal degeneration": "HP:0007705", + "Congenital aphakia": "HP:0007707", + "Lens agenesis": "HP:0007707", + "Absent inner eyelashes": "HP:0007708", + "Band-shaped corneal dystrophy": "HP:0007709", + "Peripheral vitreous opacities": "HP:0007710", + "obsolete Choroidal dystrophy": "HP:0007712", + "obsolete Juvenile zonular cataracts": "HP:0007713", + "Weak extraocular muscles": "HP:0007715", + "Uveal melanoma": "HP:0007716", + "Intraocular melanoma": "HP:0007716", + "Chronic irritative conjunctivitis": "HP:0007717", + "Flat cornea": "HP:0007720", + "Cornea plana": "HP:0007720", + "Saccular conjunctival dilatations": "HP:0007721", + "Saccular conjunctival aneurysms": "HP:0007721", + "Retinal pigment epithelial atrophy": "HP:0007722", + "Opacification of the corneal epithelium": "HP:0007727", + "Superficial corneal opacities": "HP:0007727", + "Congenital miosis": "HP:0007728", + "Iris hypopigmentation": "HP:0007730", + "Light eye color": "HP:0007730", + "Light eye colour": "HP:0007730", + "Reduced iris pigmentation": "HP:0007730", + "Chorioretinal dysplasia": "HP:0007731", + "Lacrimal gland hypoplasia": "HP:0007732", + "Hypoplastic lacrimal gland": "HP:0007732", + "Underdeveloped tear gland": "HP:0007732", + "Laterally curved eyebrow": "HP:0007733", + "Enlarged lacrimal glands": "HP:0007734", + "Enlarged tear gland": "HP:0007734", + "obsolete Pericentral retinal dystrophy": "HP:0007736", + "Bone spicule pigmentation of the retina": "HP:0007737", + "Bone corpuscle fundus pigmentation": "HP:0007737", + "Fundus with peripheral bony spicules": "HP:0007737", + "Retinal bone corpuscle pigmentation": "HP:0007737", + "Retinal pigmented bone spicules": "HP:0007737", + "Retinal 'bone corpuscle' pigmentation": "HP:0007737", + "Uncontrolled eye movements": "HP:0007738", + "obsolete Mildly reduced visual acuity": "HP:0007739", + "Long eyelashes in irregular rows": "HP:0007740", + "obsolete Iridoretinal coloboma": "HP:0007744", + "Monocular horizontal nystagmus": "HP:0007747", + "obsolete Irido-fundal coloboma": "HP:0007748", + "Hypoplasia of the fovea": "HP:0007750", + "Foveal hypoplasia": "HP:0007750", + "Macular dystrophy": "HP:0007754", + "Juvenile epithelial corneal dystrophy": "HP:0007755", + "obsolete Slitlike anterior chamber angles in children": "HP:0007756", + "obsolete Hypoplasia of choroid": "HP:0007757", + "obsolete Congenital visual impairment": "HP:0007758", + "Opacification of the corneal stroma": "HP:0007759", + "Cloudy cornea": "HP:0007759", + "Corneal stromal opacity": "HP:0007759", + "Cloudy corneas": "HP:0007759", + "Crystalline corneal dystrophy": "HP:0007760", + "Pericentral scotoma": "HP:0007761", + "Retinal telangiectasia": "HP:0007763", + "Deep anterior chamber": "HP:0007765", + "Optic disc hypoplasia": "HP:0007766", + "Hypoplastic optic discs": "HP:0007766", + "Central retinal vessel vascular tortuosity": "HP:0007768", + "Tortuosity of main retinal vessels": "HP:0007768", + "Peripheral retinal degeneration": "HP:0007769", + "Hypoplasia of the retina": "HP:0007770", + "Retinal hypoplasia": "HP:0007770", + "Underdeveloped retina": "HP:0007770", + "Impaired smooth pursuit": "HP:0007772", + "Abnormality of visual tracking": "HP:0007772", + "Impairment of visual pursuit": "HP:0007772", + "Abnormal visual pursuit": "HP:0007772", + "Vitreoretinopathy": "HP:0007773", + "Vitreoretinal abnormality": "HP:0007773", + "Vitreoretinal degeneration": "HP:0007773", + "Hypoplasia of the ciliary body": "HP:0007774", + "Sparse lower eyelashes": "HP:0007776", + "Hypotrichosis of lower eyelashes": "HP:0007776", + "Partial absence of lower eyelashes": "HP:0007776", + "Scanty lower eyelashes": "HP:0007776", + "Thin lower eyelashes": "HP:0007776", + "Chorioretinal scar": "HP:0007777", + "Posterior retinal neovascularization": "HP:0007778", + "Neovascularization of peripheral and posterior retina": "HP:0007778", + "Posterior retinal neovascularisation": "HP:0007778", + "Anterior segment of eye aplasia": "HP:0007779", + "Cortical pulverulent cataract": "HP:0007780", + "Cataracts, cortical pulverulent": "HP:0007780", + "obsolete Peripheral retinal cone degeneration": "HP:0007782", + "obsolete Butterfly retinal pigment epithelial dystrophy": "HP:0007783", + "obsolete Lacunar retinal depigmentation": "HP:0007786", + "Posterior subcapsular cataract": "HP:0007787", + "Posterior subcapsular opacities of the lens": "HP:0007787", + "Posterior subcapsular cataracts": "HP:0007787", + "Patchy atrophy of the retinal pigment epithelium": "HP:0007791", + "Microsaccadic pursuit": "HP:0007792", + "Granular macular appearance": "HP:0007793", + "Macular retinal pigment epithelial mottling": "HP:0007793", + "Anterior cortical cataract": "HP:0007795", + "Retinal vascular malformation": "HP:0007797", + "obsolete Foveal dystrophy": "HP:0007798", + "Conjunctival whitish salt-like deposits": "HP:0007799", + "Increased axial length of the globe": "HP:0007800", + "Globe elongated": "HP:0007800", + "Increased axial globe length": "HP:0007800", + "Increased front to back length of eyeball": "HP:0007800", + "obsolete Fishnet retinal pigmentation": "HP:0007801", + "Granular corneal dystrophy": "HP:0007802", + "Monochromacy": "HP:0007803", + "Complete achromatopsia": "HP:0007803", + "Total colorblindness": "HP:0007803", + "Optic nerve compression": "HP:0007807", + "obsolete Bilateral retinal coloboma": "HP:0007808", + "Punctate corneal dystrophy": "HP:0007809", + "obsolete Progressive bifocal chorioretinal atrophy": "HP:0007810", + "Horizontal pendular nystagmus": "HP:0007811", + "Herpetiform corneal ulceration": "HP:0007812", + "Dendritic corneal epithelial ulcer": "HP:0007812", + "Herpetiform corneal ulcers": "HP:0007812", + "Nongranulomatous uveitis": "HP:0007813", + "Retinal pigment epithelial mottling": "HP:0007814", + "Focal hypopigmentation of the retinal pigment epithelium": "HP:0007814", + "RPE irregularity": "HP:0007814", + "RPE mottling": "HP:0007814", + "Retinal pigment epithelium irregularity": "HP:0007814", + "Salt and pepper retinal pigmentation": "HP:0007814", + "Salt and pepper retinopathy": "HP:0007814", + "Abnormal distribution of retinal arterioles and venules": "HP:0007815", + "Horizontal supranuclear gaze palsy": "HP:0007817", + "Central heterochromia": "HP:0007818", + "Ring iris heterochromia": "HP:0007818", + "Presenile cataracts": "HP:0007819", + "Presenile cataract": "HP:0007819", + "Lacrimal punctal atresia": "HP:0007820", + "Atretic lacrimal puncta": "HP:0007820", + "Atretic lacrimal punctum": "HP:0007820", + "Central retinal exudate": "HP:0007822", + "Total ophthalmoplegia": "HP:0007824", + "Complete ophthalmoplegia": "HP:0007824", + "Global paralysis of gaze": "HP:0007824", + "Total internal and external ophthalmoplegia": "HP:0007824", + "obsolete Cataracts develop in second or third decade": "HP:0007825", + "Nodular corneal dystrophy": "HP:0007827", + "obsolete Diffuse retinal cone degeneration": "HP:0007829", + "Adult-onset night blindness": "HP:0007830", + "Nonprogressive restrictive external ophthalmoplegia": "HP:0007831", + "Pigmentation of the sclera": "HP:0007832", + "Pigmentation of the outer white part of the eyeball": "HP:0007832", + "Anterior chamber synechiae": "HP:0007833", + "Progressive cataract": "HP:0007834", + "Cataract, progressive": "HP:0007834", + "S-shaped palpebral fissures": "HP:0007835", + "S-shaped eyes": "HP:0007835", + "S-shaped opening between the eyelids": "HP:0007835", + "Mosaic corneal dystrophy": "HP:0007836", + "Progressive ptosis": "HP:0007838", + "Progressive drooping of upper eyelid": "HP:0007838", + "Long upper eyelashes": "HP:0007840", + "Ciliary trichomegaly of upper eyelashes": "HP:0007840", + "Increased length of upper eyelashes": "HP:0007840", + "Amyloid deposition in the vitreous humor": "HP:0007841", + "Amyloid deposition in the vitreous humour": "HP:0007841", + "Vitreous amyloid deposits": "HP:0007841", + "Attenuation of retinal blood vessels": "HP:0007843", + "Narrowing of blood vessels in back of eye": "HP:0007843", + "Retinal vascular proliferation": "HP:0007850", + "obsolete Temporal displacement of maculae": "HP:0007851", + "obsolete Pericentral pigmentary retinopathy": "HP:0007852", + "Glaucomatous visual field defect": "HP:0007854", + "Punctate opacification of the cornea": "HP:0007856", + "Punctate corneal opacities": "HP:0007856", + "Chorioretinal lacunae": "HP:0007858", + "Lacunar retinal depigmentation": "HP:0007858", + "Congenital horizontal nystagmus": "HP:0007859", + "Nystagmus, congenital horizontal": "HP:0007859", + "Retinal calcification": "HP:0007862", + "Retinal infarction": "HP:0007866", + "Restrictive partial external ophthalmoplegia": "HP:0007867", + "obsolete Age-related macular degeneration": "HP:0007868", + "obsolete Peripheral retinopathy": "HP:0007869", + "Choroidal hemangioma": "HP:0007872", + "Abnormally prominent line of Schwalbe": "HP:0007873", + "Prominent Schwalbe lines": "HP:0007873", + "Almond-shaped palpebral fissure": "HP:0007874", + "Almond shaped eyes": "HP:0007874", + "Almond-shaped opening between the eyelids": "HP:0007874", + "Congenital blindness": "HP:0007875", + "Blindness present at birth": "HP:0007875", + "Congenital amaurosis": "HP:0007875", + "obsolete Juvenile cortical cataract": "HP:0007876", + "Allergic conjunctivitis": "HP:0007879", + "Marginal corneal dystrophy": "HP:0007880", + "Central corneal dystrophy": "HP:0007881", + "Slowed horizontal saccades": "HP:0007885", + "Absent extraocular muscles": "HP:0007886", + "Missing eye muscles": "HP:0007886", + "Absent ocular muscles": "HP:0007886", + "Iridescent posterior subcapsular cataract": "HP:0007889", + "Cataracts, posterior, subcapsular, iridescent": "HP:0007889", + "Hypoplasia of the lacrimal punctum": "HP:0007892", + "Hypoplasia of the lacrimal puncta": "HP:0007892", + "Hypoplastic lacrimal puncta": "HP:0007892", + "obsolete Progressive retinal degeneration": "HP:0007893", + "Hypopigmentation of the fundus": "HP:0007894", + "Decreased fundus pigmentation": "HP:0007894", + "Fundus hypopigmentation": "HP:0007894", + "Exudative retinopathy": "HP:0007898", + "Retinal nonattachment": "HP:0007899", + "Congenital retinal non-attachment": "HP:0007899", + "Hypoplastic lacrimal duct": "HP:0007900", + "Underdeveloped tear duct": "HP:0007900", + "obsolete Retinal malformation": "HP:0007901", + "Vitreous hemorrhage": "HP:0007902", + "Vitreous haemorrhage": "HP:0007902", + "Paravenous chorioretinal atrophy": "HP:0007903", + "Abnormal iris vasculature": "HP:0007905", + "Abnormality of iris blood vessels": "HP:0007905", + "Ocular hypertension": "HP:0007906", + "Elevated IOP": "HP:0007906", + "Elevated intraocular pressure": "HP:0007906", + "High eye pressure": "HP:0007906", + "Increased IOP": "HP:0007906", + "Increased intraocular pressure": "HP:0007906", + "Raised IOP": "HP:0007906", + "Raised intraocular pressure": "HP:0007906", + "obsolete Nonprogressive congenital retinal dystrophy": "HP:0007910", + "Congenital bilateral ptosis": "HP:0007911", + "Congenital drooping of both upper eyelids": "HP:0007911", + "Ptosis, bilateral congenital": "HP:0007911", + "Ptosis, congenital bilateral": "HP:0007911", + "Reticular retinal dystrophy": "HP:0007913", + "Polymorphous posterior corneal dystrophy": "HP:0007915", + "obsolete Small anterior lens surface opacities": "HP:0007916", + "Tractional retinal detachment": "HP:0007917", + "obsolete Congenital chorioretinal dystrophy": "HP:0007920", + "Hypermyelinated retinal nerve fibers": "HP:0007922", + "Hypermyelinated retinal nerve fibres": "HP:0007922", + "Retinal striation": "HP:0007922", + "obsolete Foveal hyperplasia": "HP:0007923", + "Slow decrease in visual acuity": "HP:0007924", + "Slow decrease in sharpness of vision": "HP:0007924", + "Subacute deterioration of visual acuity": "HP:0007924", + "Decreased visual acuity, slowly progressive": "HP:0007924", + "Lacrimal duct aplasia": "HP:0007925", + "Absent tear duct": "HP:0007925", + "Abnormal flash visual evoked potentials": "HP:0007928", + "Peripheral retinal detachment": "HP:0007929", + "obsolete Prominent epicanthal folds": "HP:0007930", + "Bilateral congenital mydriasis": "HP:0007932", + "Broad lateral eyebrow": "HP:0007933", + "Lateral eyebrow flare": "HP:0007933", + "Wide lateral eyebrow": "HP:0007933", + "Juvenile posterior subcapsular lenticular opacities": "HP:0007935", + "Restrictive external ophthalmoplegia": "HP:0007936", + "Restrictive ophthalmoplegia": "HP:0007936", + "Restrictive external ophthalmoplegia, bilateral": "HP:0007936", + "Reticular pigmentary degeneration": "HP:0007937", + "Fishnet retinal pigmentation": "HP:0007937", + "Honeycomb retinal degeneration": "HP:0007937", + "Blue cone monochromacy": "HP:0007939", + "Blue cone monochromatism": "HP:0007939", + "Incomplete achromatopsia": "HP:0007939", + "S-cone monochromacy": "HP:0007939", + "Limited extraocular movements": "HP:0007941", + "Limited extraocular movement": "HP:0007941", + "Internal ophthalmoplegia": "HP:0007942", + "Congenital stapes ankylosis": "HP:0007943", + "Intermittent microsaccadic pursuits": "HP:0007944", + "obsolete Choroidal degeneration": "HP:0007945", + "Unilateral narrow palpebral fissure": "HP:0007946", + "Narrow palpebral fissure, unilateral": "HP:0007946", + "Unequal size of opening between the eyelids": "HP:0007946", + "Pericentral retinitis pigmentosa": "HP:0007947", + "Dense posterior cortical cataract": "HP:0007948", + "obsolete Progressive macular scarring": "HP:0007949", + "Peripapillary chorioretinal atrophy": "HP:0007950", + "obsolete Bilateral choroid coloboma": "HP:0007956", + "Corneal opacity": "HP:0007957", + "Corneal clouding": "HP:0007957", + "Corneal opacities": "HP:0007957", + "Reduction of corneal clarity": "HP:0007957", + "Scarring or clouding of the cornea of the eye": "HP:0007957", + "Optic atrophy from cranial nerve compression": "HP:0007958", + "obsolete Rarefaction of retinal pigmentation": "HP:0007961", + "Speckled corneal dystrophy": "HP:0007962", + "Pattern dystrophy of the retina": "HP:0007963", + "Degenerative vitreoretinopathy": "HP:0007964", + "Undetectable visual evoked potentials": "HP:0007965", + "Absence of visual evoked potentials": "HP:0007965", + "Non-detectable VEP": "HP:0007965", + "Undetectable VEP": "HP:0007965", + "Remnants of the hyaloid vascular system": "HP:0007968", + "Congenital retinal septum": "HP:0007968", + "Persistent fetal vasculature": "HP:0007968", + "Persistent foetal vasculature": "HP:0007968", + "Persistent hyperplasia of primary vitreous": "HP:0007968", + "Persistent hyperplastic primary vitreous": "HP:0007968", + "Persistent hypertrophic primary vitreous": "HP:0007968", + "Persistent posterior fetal fibrovascular sheath of the lens": "HP:0007968", + "Persistent posterior foetal fibrovascular sheath of the lens": "HP:0007968", + "Persistent tunica vasculosa lentis": "HP:0007968", + "Congenital ptosis": "HP:0007970", + "Congenital drooping upper eyelid": "HP:0007970", + "Lamellar cataract": "HP:0007971", + "Retinal dysplasia": "HP:0007973", + "Retinal dysgenesis": "HP:0007973", + "Hypometric horizontal saccades": "HP:0007975", + "Cerulean cataract": "HP:0007976", + "Cataracts, congenital, cerulean": "HP:0007976", + "Gaze-evoked horizontal nystagmus": "HP:0007979", + "Nystagmus, horizontal, gaze-evoked": "HP:0007979", + "Nystagmus, horizontal gaze-evoked": "HP:0007979", + "Absent retinal pigment epithelium": "HP:0007980", + "obsolete Concentric narrowing of visual field": "HP:0007981", + "obsolete Central tapetoretinal dystrophy": "HP:0007982", + "Electronegative electroretinogram": "HP:0007984", + "Electronegative ERG": "HP:0007984", + "Electroretinogram: reduced b-wave amplitude": "HP:0007984", + "Reduced ERG amplitude of b-wave": "HP:0007984", + "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave": "HP:0007984", + "Reduced electroretinogram rod b-wave": "HP:0007984", + "Retinal arteriolar occlusion": "HP:0007985", + "Blocked retinal artery": "HP:0007985", + "Increased retinal vascularity": "HP:0007986", + "Progressive visual field defects": "HP:0007987", + "Macular hypopigmentation": "HP:0007988", + "Intraretinal exudate": "HP:0007989", + "Hypoplastic iris stroma": "HP:0007990", + "Hypoplastic iris stoma": "HP:0007990", + "Iris stromal hypoplasia": "HP:0007990", + "Underdeveloped iris stroma": "HP:0007990", + "Lattice retinal degeneration": "HP:0007992", + "Malformed lacrimal duct": "HP:0007993", + "Malformed tear ducts": "HP:0007993", + "Peripheral visual field loss": "HP:0007994", + "Kalnienk vision": "HP:0007994", + "Loss of peripheral vision": "HP:0007994", + "Tunnel vision": "HP:0007994", + "Decreased corneal reflex": "HP:0008000", + "Decreased blink reflex": "HP:0008000", + "Reduced corneal reflex": "HP:0008000", + "Foveal hyperpigmentation": "HP:0008001", + "Abnormality of macular pigmentation": "HP:0008002", + "Macular pigmentary changes": "HP:0008002", + "Jerky ocular pursuit movements": "HP:0008003", + "Jerky smooth pursuit": "HP:0008003", + "obsolete Congenital corneal dystrophy": "HP:0008005", + "Primary congenital glaucoma": "HP:0008007", + "obsolete Progressive central visual loss": "HP:0008008", + "Three rows of eyelashes": "HP:0008009", + "Triple row of eyelashes": "HP:0008009", + "Peripheral opacification of the cornea": "HP:0008011", + "Peripheral corneal opacity": "HP:0008011", + "obsolete Congenital myopia": "HP:0008012", + "Central fundal arteriolar microaneurysms": "HP:0008014", + "obsolete Depigmented lesions of the retinal pigment epithelium": "HP:0008017", + "Superior lens subluxation": "HP:0008019", + "Superior subluxated lens": "HP:0008019", + "Cone dystrophy": "HP:0008020", + "Progressive cone degeneration": "HP:0008020", + "Progressive cone dystrophy": "HP:0008020", + "obsolete Congenital nuclear cataract": "HP:0008024", + "Horizontal opticokinetic nystagmus": "HP:0008026", + "Cystoid macular degeneration": "HP:0008028", + "Cystic macular degeneration": "HP:0008028", + "Retinal arteritis": "HP:0008030", + "Posterior Y-sutural cataract": "HP:0008031", + "Posterior Y-sutural cataracts": "HP:0008031", + "obsolete Congenital exotropia": "HP:0008033", + "Abnormal iris pigmentation": "HP:0008034", + "Retinitis pigmentosa inversa": "HP:0008035", + "Central retinitis pigmentosa": "HP:0008035", + "obsolete Rod-cone dystrophy": "HP:0008036", + "Absent anterior chamber of the eye": "HP:0008037", + "Aplastic/hypoplastic lacrimal glands": "HP:0008038", + "Absent/underdeveloped lacrimal glands": "HP:0008038", + "Absent/underdeveloped tear glands": "HP:0008038", + "Subepithelial corneal opacities": "HP:0008039", + "Late onset congenital glaucoma": "HP:0008041", + "Retinal arteriolar constriction": "HP:0008043", + "Constricted retinal arterioles": "HP:0008043", + "Narrow retinal arterioles": "HP:0008043", + "Retinal arteriolar narrowing": "HP:0008043", + "Enlarged flash visual evoked potentials": "HP:0008045", + "High flash visual evoked potentials": "HP:0008045", + "Abnormal retinal vascular morphology": "HP:0008046", + "Abnormality of retina blood vessels": "HP:0008046", + "Abnormality of the retinal vasculature": "HP:0008046", + "Abnormality of the vasculature of the eye": "HP:0008047", + "Abnormality of eye blood vessels": "HP:0008047", + "Abnormal line of Schwalbe morphology": "HP:0008048", + "Abnormality of the line of Schwalbe": "HP:0008048", + "Abnormality of the extraocular muscles": "HP:0008049", + "Abnormality of the palpebral fissures": "HP:0008050", + "Abnormality of the opening between the eyelids": "HP:0008050", + "Deformity of the palpebral fissures": "HP:0008050", + "Malformation of the palpebral fissures": "HP:0008050", + "obsolete Abnormality of the retinal pigment epithelium": "HP:0008051", + "Retinal fold": "HP:0008052", + "Retinal folds": "HP:0008052", + "Aplasia/Hypoplasia of the iris": "HP:0008053", + "Absent/small iris": "HP:0008053", + "Absent/underdeveloped iris": "HP:0008053", + "Abnormal morphology of the conjunctival vasculature": "HP:0008054", + "Abnormal morphology of the conjunctiva vasculature": "HP:0008054", + "Abnormal vasculature of the conjunctiva morphology": "HP:0008054", + "Abnormality of the vasculature of the conjunctiva": "HP:0008054", + "Aplasia/Hypoplasia affecting the uvea": "HP:0008055", + "Absent/underdeveloped uvea": "HP:0008055", + "Aplasia/Hypoplasia affecting the eye": "HP:0008056", + "Absent/small eye": "HP:0008056", + "Absent/underdeveloped eye": "HP:0008056", + "Aplasia/Hypoplasia affecting the fundus": "HP:0008057", + "Absent/small fundus": "HP:0008057", + "Aplasia/Hypoplasia of the optic nerve": "HP:0008058", + "Absent/small optic nerve": "HP:0008058", + "Absent/underdeveloped optic nerve": "HP:0008058", + "Aplasia/Hypoplasia of the macula": "HP:0008059", + "Absent/underdeveloped macula": "HP:0008059", + "Aplasia/Hypoplasia of the fovea": "HP:0008060", + "Absent/underdeveloped fovea": "HP:0008060", + "Aplasia/Hypoplasia of the retina": "HP:0008061", + "Absent/small retina": "HP:0008061", + "Absent/underdeveloped retina": "HP:0008061", + "Aplasia/Hypoplasia affecting the anterior segment of the eye": "HP:0008062", + "Aplasia/Hypoplasia of the lens": "HP:0008063", + "Absent/small lens": "HP:0008063", + "Absent/underdeveloped lens": "HP:0008063", + "Ichthyosis": "HP:0008064", + "Ichthyosiform abnormality of the skin": "HP:0008064", + "Ichthyotic skin": "HP:0008064", + "Hypertrophic ichthyosis": "HP:0008064", + "Aplasia/Hypoplasia of the skin": "HP:0008065", + "Absent/small skin": "HP:0008065", + "Absent/underdeveloped skin": "HP:0008065", + "Abnormal blistering of the skin": "HP:0008066", + "Blister": "HP:0008066", + "Blistering, generalised": "HP:0008066", + "Blistering, generalized": "HP:0008066", + "Blisters": "HP:0008066", + "Skin bullae": "HP:0008066", + "Skin blisters": "HP:0008066", + "Abnormally lax or hyperextensible skin": "HP:0008067", + "Abnormally loose or hyperelastic skin": "HP:0008067", + "Abnormally loose or stretchable skin": "HP:0008067", + "Neoplasm of the skin": "HP:0008069", + "Skin cancer (non-melanoma)": "HP:0008069", + "Dermatological tumors": "HP:0008069", + "Dermatological tumours": "HP:0008069", + "Skin tumors": "HP:0008069", + "Skin tumours": "HP:0008069", + "Tumor of the skin": "HP:0008069", + "Tumour of the skin": "HP:0008069", + "Neoplasia of the skin": "HP:0008069", + "Skin cancer": "HP:0008069", + "Sparse hair": "HP:0008070", + "Decreased hair growth": "HP:0008070", + "Decreased hair growth on body": "HP:0008070", + "Hypotrichosis": "HP:0008070", + "Marked hypotrichosis": "HP:0008070", + "Sparse hair since birth": "HP:0008070", + "Thin, sparse hair": "HP:0008070", + "Maternal hypertension": "HP:0008071", + "Maternal virilization in pregnancy": "HP:0008072", + "Low maternal circulating estriol concentration": "HP:0008073", + "Low maternal serum estriol": "HP:0008073", + "Metatarsal periosteal thickening": "HP:0008074", + "obsolete Progressive pes cavus": "HP:0008075", + "Osteoporotic tarsals": "HP:0008076", + "Thin metatarsal cortices": "HP:0008078", + "Absent fifth metatarsal": "HP:0008079", + "Absent 5th long bone of foot": "HP:0008079", + "Absent 5th metatarsals": "HP:0008079", + "Aplasia of the fifth metatarsal bone": "HP:0008079", + "Hallux varus": "HP:0008080", + "Hitchhiker hallux": "HP:0008080", + "Hyperabducted big toe": "HP:0008080", + "Medially deviated halluces": "HP:0008080", + "Pes valgus": "HP:0008081", + "Valgus foot deformity": "HP:0008081", + "Medial deviation of the foot": "HP:0008082", + "2nd-5th toe middle phalangeal hypoplasia": "HP:0008083", + "Underdeveloped 2nd-5th middle toe bones": "HP:0008083", + "Nonossified fifth metatarsal": "HP:0008087", + "Abnormality of the fifth metatarsal bone": "HP:0008089", + "Abnormality of the 5th long bone of foot": "HP:0008089", + "Ankylosis of feet small joints": "HP:0008090", + "Short 4th toe": "HP:0008093", + "Short fourth toe": "HP:0008093", + "Widely spaced toes": "HP:0008094", + "Osteolysis of talus": "HP:0008095", + "Osteolysis of tali": "HP:0008095", + "Medially deviated second toe": "HP:0008096", + "Partial fusion of tarsals": "HP:0008097", + "Expanded metatarsals with widened medullary cavities": "HP:0008102", + "Delayed tarsal ossification": "HP:0008103", + "Tarsal delayed ossification": "HP:0008103", + "Delayed ankle bone maturation": "HP:0008103", + "Plantar crease between first and second toes": "HP:0008107", + "Advanced tarsal ossification": "HP:0008108", + "Precociously ossified tarsal bones": "HP:0008108", + "Accelerated ankle bone maturation": "HP:0008108", + "Equinovarus deformity": "HP:0008110", + "Broad distal hallux": "HP:0008111", + "Broad distal big toe": "HP:0008111", + "Plantar flexion contracture": "HP:0008112", + "Plantar flexion contractures": "HP:0008112", + "Multiple plantar creases": "HP:0008113", + "Metatarsal diaphyseal endosteal sclerosis": "HP:0008114", + "Clinodactyly of the 3rd toe": "HP:0008115", + "Curvature of 3rd toe": "HP:0008115", + "3rd toe clinodactyly": "HP:0008115", + "Flexion limitation of toes": "HP:0008116", + "Shortening of the talar neck": "HP:0008117", + "Deformed tarsal bones": "HP:0008119", + "Deformed ankle bones": "HP:0008119", + "Calcaneonavicular fusion": "HP:0008122", + "Talipes calcaneovarus": "HP:0008124", + "Second metatarsal posteriorly placed": "HP:0008125", + "Bipartite calcaneus": "HP:0008127", + "Delayed coalescence of bipartite calcanei": "HP:0008127", + "Delayed coalescence of calcaneal ossification centers": "HP:0008127", + "Delayed coalescence of calcaneal ossification centres": "HP:0008127", + "Delayed fusion of bipartite calcanei": "HP:0008127", + "Double calcaneal ossification center": "HP:0008127", + "Double calcaneal ossification centre": "HP:0008127", + "Extra calcaneal ossification center": "HP:0008127", + "Extra calcaneal ossification centre": "HP:0008127", + "Tarsal stippling": "HP:0008131", + "Punctate calcifications of tarsals": "HP:0008131", + "Punctate tarsal calcification": "HP:0008131", + "Medial rotation of the medial malleolus": "HP:0008132", + "Distal tapering of metatarsals": "HP:0008133", + "Irregular tarsal ossification": "HP:0008134", + "Irregular tarsal centers": "HP:0008134", + "Irregular tarsal centres": "HP:0008134", + "Irregular ankle bone maturation": "HP:0008134", + "Equinus calcaneus": "HP:0008138", + "Equinus deformity of the calcaneus": "HP:0008138", + "Hindfoot equinus": "HP:0008138", + "Dislocation of toes": "HP:0008141", + "Delayed calcaneal ossification": "HP:0008142", + "Delayed heel bone maturation": "HP:0008142", + "Flattening of the talar dome": "HP:0008144", + "Impaired epinephrine-induced platelet aggregation": "HP:0008148", + "Elevated serum transaminases during infections": "HP:0008150", + "Prolonged prothrombin time": "HP:0008151", + "Increased INR": "HP:0008151", + "Increased international normalised ratio": "HP:0008151", + "Increased international normalized ratio": "HP:0008151", + "Low factor II activity": "HP:0008151", + "Prolonged PT": "HP:0008151", + "Reduced factor II activity": "HP:0008151", + "Reduced prothrombin activity": "HP:0008151", + "increased international normalised ratio": "HP:0008151", + "Periodic hypokalemic paresis": "HP:0008153", + "Hypokalemic periodic paresis": "HP:0008153", + "Mucopolysacchariduria": "HP:0008155", + "Hyperapobetalipoproteinemia": "HP:0008158", + "3-hydroxydicarboxylic aciduria": "HP:0008160", + "Absent leukocyte alkaline phosphatase": "HP:0008161", + "Absent leukocyte ALP": "HP:0008161", + "Asymptomatic hyperammonemia": "HP:0008162", + "Hyperammonemia, asymptomatic": "HP:0008162", + "Decreased circulating cortisol level": "HP:0008163", + "Decreased cortisol production": "HP:0008163", + "Glucocorticoid insufficiency": "HP:0008163", + "Hypocortisolemia": "HP:0008163", + "Low blood cortisol level": "HP:0008163", + "Low to undetectable plasma cortisol": "HP:0008163", + "Plasma cortisol low": "HP:0008163", + "Hypocortisolism": "HP:0008163", + "Decreased helper T cell proportion": "HP:0008165", + "Decreased proportion circulating T-helper cells": "HP:0008165", + "Reduced helper T cell proportion": "HP:0008165", + "Decreased beta-galactosidase activity": "HP:0008166", + "Beta-galactosidase deficiency in fibroblasts and white blood cells": "HP:0008166", + "Beta-galactosidase-1 deficiency": "HP:0008166", + "Decreased beta galactosidase activity": "HP:0008166", + "Very long chain fatty acid accumulation": "HP:0008167", + "Reduced factor VII activity": "HP:0008169", + "Factor VII deficiency": "HP:0008169", + "Neonatal unconjugated hyperbilirubinemia": "HP:0008176", + "Abnormal cartilage matrix": "HP:0008178", + "Decreased Arden ratio of electrooculogram": "HP:0008179", + "Decreased Arden ratio of EOG": "HP:0008179", + "Mildly elevated creatine kinase": "HP:0008180", + "Mildly elevated CPK": "HP:0008180", + "Mildly elevated creatine phosphokinase": "HP:0008180", + "Mildly elevated serum CK": "HP:0008180", + "Mildly elevated serum CPK": "HP:0008180", + "Mildly elevated serum phospho-CK": "HP:0008180", + "Mildly increased creatine kinase": "HP:0008180", + "Mildly increased serum creatine kinase": "HP:0008180", + "Moderately elevated serum CK": "HP:0008180", + "Moderately elevated serum CPK": "HP:0008180", + "Moderately increased serum creatine kinase": "HP:0008180", + "Abetalipoproteinemia": "HP:0008181", + "Adrenocortical hypoplasia": "HP:0008182", + "Small adrenal cortex": "HP:0008182", + "Precocious puberty in males": "HP:0008185", + "Early onset of puberty in males": "HP:0008185", + "Male precocious puberty": "HP:0008185", + "Adrenocortical cytomegaly": "HP:0008186", + "Absence of secondary sex characteristics": "HP:0008187", + "No secondary sexual characteristics at puberty": "HP:0008187", + "Thyroid dysgenesis": "HP:0008188", + "Thyroid dysplasia": "HP:0008188", + "Insulin insensitivity": "HP:0008189", + "Thyroid agenesis": "HP:0008191", + "Athyroidal hypothyroidism": "HP:0008191", + "Primary gonadal insufficiency": "HP:0008193", + "Multiple pancreatic beta-cell adenomas": "HP:0008194", + "Absence of pubertal development": "HP:0008197", + "Congenital hypoparathyroidism": "HP:0008198", + "Neonatal hypoparathyroidism": "HP:0008198", + "Primary hyperparathyroidism": "HP:0008200", + "Reduced circulating prolactin concentration": "HP:0008202", + "Prolactin deficiency": "HP:0008202", + "Precocious puberty with Sertoli cell tumor": "HP:0008204", + "Precocious puberty with Sertoli cell tumour": "HP:0008204", + "Insulin-dependent but ketosis-resistant diabetes": "HP:0008205", + "Primary adrenal insufficiency": "HP:0008207", + "Adrenocortical insufficiency": "HP:0008207", + "Primary adrenocortical failure": "HP:0008207", + "Addison disease": "HP:0008207", + "Addison's disease": "HP:0008207", + "Parathyroid hyperplasia": "HP:0008208", + "Enlarged parathyroid glands": "HP:0008208", + "Premature ovarian insufficiency": "HP:0008209", + "Climacterium praecox": "HP:0008209", + "Early menopause": "HP:0008209", + "Hypergonadotropic amenorrhea": "HP:0008209", + "Menopause praecox": "HP:0008209", + "Premature menopause": "HP:0008209", + "Premature ovarian failure": "HP:0008209", + "Primary ovarian insufficiency": "HP:0008209", + "Parathyroid agenesis": "HP:0008211", + "Parathyroid absence": "HP:0008211", + "Parathyroid aplasia": "HP:0008211", + "Gonadotropin deficiency": "HP:0008213", + "Pituitary gonadotropin deficiency": "HP:0008213", + "Decreased serum estradiol": "HP:0008214", + "Adrenal gland dysgenesis": "HP:0008216", + "Adrenal gland dysplasia": "HP:0008216", + "Dysplastic adrenal glands": "HP:0008216", + "Adrenal hyperplasia": "HP:0008221", + "Enlarged adrenal glands": "HP:0008221", + "Female infertility": "HP:0008222", + "Compensated hypothyroidism": "HP:0008223", + "Mild hypothyroidism": "HP:0008223", + "Subclinical hypothyroidism": "HP:0008223", + "Thyroid follicular hyperplasia": "HP:0008225", + "Androgen insufficiency": "HP:0008226", + "Hypoandrogenism": "HP:0008226", + "Pituitary resistance to thyroid hormone": "HP:0008227", + "Thyroid lymphangiectasia": "HP:0008229", + "Thyroid lymphangiectasis": "HP:0008229", + "obsolete Decreased testosterone in males": "HP:0008230", + "Macronodular adrenal hyperplasia": "HP:0008231", + "Elevated circulating follicle stimulating hormone level": "HP:0008232", + "Elevated FSH level": "HP:0008232", + "Elevated follicle stimulating hormone": "HP:0008232", + "Elevated follicle-stimulating hormone": "HP:0008232", + "Elevated plasma follicle stimulating hormone": "HP:0008232", + "Increased circulating follicle stimulating hormone level": "HP:0008232", + "Decreased circulating progesterone": "HP:0008233", + "Decreased serum progesterone": "HP:0008233", + "Isosexual precocious puberty": "HP:0008236", + "Hypothalamic hypothyroidism": "HP:0008237", + "Tertiary hypothyroidism": "HP:0008237", + "Adrenal medullary hypoplasia": "HP:0008239", + "Small adrenal medulla": "HP:0008239", + "Secondary growth hormone deficiency": "HP:0008240", + "Pseudohypoaldosteronism": "HP:0008242", + "Congenital adrenal hypoplasia": "HP:0008244", + "Congenital adrenal gland hypoplasia": "HP:0008244", + "Pituitary hypothyroidism": "HP:0008245", + "Low thyroid gland function due to abnormal pituitary gland": "HP:0008245", + "Secondary hypothyroidism": "HP:0008245", + "TSH deficient hypothyroidism": "HP:0008245", + "Thyroid stimulating hormone deficiency": "HP:0008245", + "Thyrotropin deficiency": "HP:0008245", + "Euthyroid hyperthyroxinemia": "HP:0008247", + "Asymptomatic hyperthyroxinemia": "HP:0008247", + "Thyroid hyperplasia": "HP:0008249", + "Large thyroid": "HP:0008249", + "obsolete Infantile hypercalcemia": "HP:0008250", + "Congenital goiter": "HP:0008251", + "Congenital goitre": "HP:0008251", + "Transient neonatal diabetes mellitus": "HP:0008255", + "Adrenocortical adenoma": "HP:0008256", + "Adrenocortical adenomas": "HP:0008256", + "Congenital adrenal hyperplasia": "HP:0008258", + "Adrenocorticotropin receptor defect": "HP:0008259", + "ACTH receptor defect": "HP:0008259", + "ACTHR defect": "HP:0008259", + "Adrenocorticotropic hormone-resistant adrenal insufficiency": "HP:0008259", + "Pancreatic islet cell adenoma": "HP:0008261", + "Thyroid defect in oxidation and organification of iodide": "HP:0008263", + "Neutrophil inclusion bodies": "HP:0008264", + "Mitochondrial lysine transport defect": "HP:0008265", + "Increased red cell hemolysis by shear stress": "HP:0008269", + "Abnormal cartilage collagen": "HP:0008271", + "Abnormal hyaline collagen": "HP:0008271", + "Abnormal type II collagen": "HP:0008271", + "Renal tubular lysine transport defect": "HP:0008272", + "Transient aminoaciduria": "HP:0008273", + "Abnormal light-adapted electroretinogram": "HP:0008275", + "Abnormal cone-mediated electroretinogram": "HP:0008275", + "Abnormal blood zinc concentration": "HP:0008277", + "Abnormality of zinc homeostasis": "HP:0008277", + "Abnormal zinc metabolism": "HP:0008277", + "Cerebellar cortical atrophy": "HP:0008278", + "Cerebellar cortex degeneration": "HP:0008278", + "Transient hyperlipidemia": "HP:0008279", + "Acute hyperammonemia": "HP:0008281", + "Hyperammonemia, acute": "HP:0008281", + "Unconjugated hyperbilirubinemia": "HP:0008282", + "Fasting hyperinsulinemia": "HP:0008283", + "High blood insulin levels while fasting": "HP:0008283", + "Transient hypophosphatemia": "HP:0008285", + "Nonketotic hyperglycinemia": "HP:0008288", + "Partial complement factor H deficiency": "HP:0008290", + "Pituitary corticotropic cell adenoma": "HP:0008291", + "ACTH-producing pituitary adenoma": "HP:0008291", + "Corticotropin-secreting pituitary adenoma": "HP:0008291", + "Long-chain dicarboxylic aciduria": "HP:0008293", + "Transient hyperphenylalaninemia": "HP:0008297", + "Dermatan sulfate excretion in urine": "HP:0008301", + "Dermatan sulphate excretion in urine": "HP:0008301", + "Olivary degeneration": "HP:0008303", + "Exercise-induced myoglobinuria": "HP:0008305", + "Exercise-induced myoglobinuria in adults": "HP:0008305", + "Abnormal iron deposition in mitochondria": "HP:0008306", + "Medium chain dicarboxylic aciduria": "HP:0008309", + "Spinal cord posterior columns myelin loss": "HP:0008311", + "Decreased activity of mitochondrial complex II": "HP:0008314", + "Respiratory complex II deficiency": "HP:0008314", + "Decreased plasma free carnitine": "HP:0008315", + "Abnormal mitochondria in muscle tissue": "HP:0008316", + "Abnormal mitochondria in muscle": "HP:0008316", + "Elevated leukocyte alkaline phosphatase": "HP:0008318", + "Elevated leukocyte ALP": "HP:0008318", + "Impaired collagen-induced platelet aggregation": "HP:0008320", + "Reduced factor X activity": "HP:0008321", + "Decreased factor x activity": "HP:0008321", + "Factor X deficiency": "HP:0008321", + "Abnormal mitochondrial morphology": "HP:0008322", + "Abnormal mitochondrion morphology": "HP:0008322", + "Abnormal light- and dark-adapted electroretinogram": "HP:0008323", + "Abnormal rod and cone electroretinogram": "HP:0008323", + "Reduced circulating vitamin B6 circulating": "HP:0008326", + "Reduced circulating vitamin B6 level": "HP:0008326", + "Reduced vitamin b6 levels": "HP:0008326", + "Vitamin B6 deficiency": "HP:0008326", + "Microscopic nephrocalcinosis": "HP:0008327", + "Reduced von Willebrand factor activity": "HP:0008330", + "Decreased von willebrand factor activity": "HP:0008330", + "Elevated creatine kinase after exercise": "HP:0008331", + "Elevated CK after exercise": "HP:0008331", + "Elevated CPK after exercise": "HP:0008331", + "Elevated creatine phosphokinase after exercise": "HP:0008331", + "Elevated phospho-CK after exercise": "HP:0008331", + "Elevated phospho-creatine kinase after exercise": "HP:0008331", + "Increased CK after exercise": "HP:0008331", + "Increased creatine kinase after exercise": "HP:0008331", + "Increased creatine phosphokinase after exercise": "HP:0008331", + "Increased phospho-CK after exercise": "HP:0008331", + "Increased phospho-creatine kinase after exercise": "HP:0008331", + "obsolete Renal aminoaciduria": "HP:0008335", + "Complex organic aciduria": "HP:0008336", + "Partial functional complement factor D deficiency": "HP:0008338", + "Partial functional adipsin deficiency": "HP:0008338", + "Partial functional factor d deficiency": "HP:0008338", + "Diaminoaciduria": "HP:0008339", + "Distal renal tubular acidosis": "HP:0008341", + "Renal tubular acidosis, type I": "HP:0008341", + "Elevated circulating branched chain amino acid concentration": "HP:0008344", + "Hypoplasia of the iris dilator muscle": "HP:0008345", + "Hypoplasia of the pupil dilator muscle": "HP:0008345", + "Underdeveloped iris dilator muscle": "HP:0008345", + "Underdeveloped pupil dilator muscle": "HP:0008345", + "Increased red cell sickling tendency": "HP:0008346", + "Increased sickling of erythrocytes": "HP:0008346", + "Increased sickling of red cells": "HP:0008346", + "Decreased activity of mitochondrial complex IV": "HP:0008347", + "Respiratory complex IV deficiency": "HP:0008347", + "Decreased circulating IgG2 concentration": "HP:0008348", + "Decreased IgG2 level in blood": "HP:0008348", + "Decreased circulating IgG2 level": "HP:0008348", + "Immunoglobulin IgG2 deficiency": "HP:0008348", + "Reduced IgG2 levels": "HP:0008348", + "Impaired platelet adhesion": "HP:0008352", + "Impaired thrombocytes adhesion": "HP:0008352", + "Neutral hyperaminoaciduria": "HP:0008353", + "Factor X activation deficiency": "HP:0008354", + "obsolete Combined hyperlipidemia": "HP:0008356", + "Reduced factor XIII activity": "HP:0008357", + "Hyperprolinemia": "HP:0008358", + "Prolinemia": "HP:0008358", + "Neonatal hypoproteinemia": "HP:0008360", + "Corticospinal tract pallor": "HP:0008361", + "Aplasia/Hypoplasia of the hallux": "HP:0008362", + "Absent/small big toe": "HP:0008362", + "Absent/underdeveloped big toe": "HP:0008362", + "Aplastic/hypoplastic halluces": "HP:0008362", + "Aplasia/Hypoplasia of the tarsal bones": "HP:0008363", + "Absent/small ankle bone": "HP:0008363", + "Absent/underdeveloped ankle bone": "HP:0008363", + "Aplastic/hypoplastic tarsals": "HP:0008363", + "Abnormality of the calcaneus": "HP:0008364", + "Abnormal heel bone": "HP:0008364", + "Abnormal talus morphology": "HP:0008365", + "Abnormal large bone of ankle": "HP:0008365", + "Foot joint contracture": "HP:0008366", + "Contractures involving the joints of the feet": "HP:0008366", + "Contractures of the foot joints": "HP:0008366", + "Joint contractures involving the joints of the feet": "HP:0008366", + "Tarsal synostosis": "HP:0008368", + "Fused ankle bones": "HP:0008368", + "Synostosis involving tarsal bones": "HP:0008368", + "Synostosis of tarsal bones": "HP:0008368", + "Tarsal bone fusion": "HP:0008368", + "Tarsal bone synostosis": "HP:0008368", + "Tarsal fusion": "HP:0008368", + "Tarsal fusions": "HP:0008368", + "Abnormal tarsal ossification": "HP:0008369", + "Abnormal ossification of tarsal bones": "HP:0008369", + "Hardening of ankle bones": "HP:0008369", + "Abnormal maturation of ankle bones": "HP:0008369", + "Abnormal metatarsal ossification": "HP:0008371", + "Abnormal ossification involving metatarsal bones": "HP:0008371", + "Abnormal maturation of long bone of foot": "HP:0008371", + "Abnormal circulating vitamin A concentration": "HP:0008372", + "Puberty and gonadal disorders": "HP:0008373", + "Nasal dysarthria": "HP:0008376", + "Breathy speech": "HP:0008376", + "Slow-growing nails": "HP:0008383", + "Aplasia/Hypoplasia of the nails": "HP:0008386", + "Absent/hypoplastic nails": "HP:0008386", + "Absent/small nails": "HP:0008386", + "Absent/underdeveloped nails": "HP:0008386", + "Nail aplasia/hypoplasia": "HP:0008386", + "Abnormal toenail morphology": "HP:0008388", + "Abnormality of the toenail": "HP:0008388", + "Abnormality of the toenails": "HP:0008388", + "Recurrent loss of toenails and fingernails": "HP:0008390", + "Recurrent shedding of toenails and fingernails": "HP:0008390", + "Dystrophic fingernails": "HP:0008391", + "Poor fingernail formation": "HP:0008391", + "Subungual hyperkeratosis": "HP:0008392", + "Thickened, discolored skin under nail": "HP:0008392", + "Thickened, discoloured skin under nail": "HP:0008392", + "Congenital curved nail of fourth toe": "HP:0008393", + "Congenital onychodystrophy": "HP:0008394", + "Congenital malformed nails": "HP:0008394", + "Chronic monilial nail infection": "HP:0008396", + "Fungal infection of the nail": "HP:0008396", + "Hypoplastic fifth fingernail": "HP:0008398", + "Underdeveloped fifth fingernail": "HP:0008398", + "Underdeveloped fingernail of little finger": "HP:0008398", + "Underdeveloped fingernail of pinkie finger": "HP:0008398", + "Underdeveloped fingernail of pinky finger": "HP:0008398", + "Circumungual hyperkeratosis": "HP:0008399", + "Thick skin around nails": "HP:0008399", + "Onycholysis of distal fingernails": "HP:0008400", + "Detachment of outermost fingernails": "HP:0008400", + "Onychogryphosis of toenails": "HP:0008401", + "Overgrowth and curving of toenails": "HP:0008401", + "Ridged fingernail": "HP:0008402", + "Longitudinally grooved fingernails": "HP:0008402", + "Ridged fingernails": "HP:0008402", + "Nail dystrophy": "HP:0008404", + "Dystrophic nails": "HP:0008404", + "Onychodystrophy": "HP:0008404", + "Poor nail formation": "HP:0008404", + "Hyperconvex thumb nails": "HP:0008407", + "Tightly curved thumb nail": "HP:0008407", + "Subungual hyperkeratotic fragments": "HP:0008410", + "Lumbar kyphosis in infancy": "HP:0008414", + "Hunched back in infancy": "HP:0008414", + "Round back in infancy": "HP:0008414", + "Six lumbar vertebrae": "HP:0008416", + "Vertebral hypoplasia": "HP:0008417", + "Underdeveloped vertebrae": "HP:0008417", + "Squared-off platyspondyly": "HP:0008418", + "Intervertebral disk degeneration": "HP:0008419", + "Degeneration of intervertebral discs": "HP:0008419", + "Degeneration of intervertebral disks": "HP:0008419", + "Degenerative disc disease": "HP:0008419", + "Degenerative disk disease": "HP:0008419", + "Degenerative intervertebral disc": "HP:0008419", + "Degenerative intervertebral disk": "HP:0008419", + "Punctate vertebral calcifications": "HP:0008420", + "Tall lumbar vertebral bodies": "HP:0008421", + "Vertebral wedging": "HP:0008422", + "Wedge-shaped vertebrae": "HP:0008422", + "Wedged vertebrae": "HP:0008422", + "anterior wedging": "HP:0008422", + "Spinal dysplasia": "HP:0008423", + "Hypoplastic 5th lumbar vertebrae": "HP:0008424", + "Underdeveloped 5th lumbar vertebrae": "HP:0008424", + "Cuboid-shaped thoracolumbar vertebral bodies": "HP:0008425", + "Vertebral clefting": "HP:0008428", + "Vertebral clefts": "HP:0008428", + "Anterior beaking of lumbar vertebrae": "HP:0008430", + "Anterior tongue-like protrusion of lumbar vertebral bodies": "HP:0008430", + "Anterior wedging of L1": "HP:0008432", + "Reversed usual vertebral column curves": "HP:0008433", + "Hypoplastic cervical vertebrae": "HP:0008434", + "Cervical vertebrae hypoplasia": "HP:0008434", + "Underdeveloped cervical vertebrae": "HP:0008434", + "Absent in utero ossification of vertebral bodies": "HP:0008435", + "Absent/hypoplastic coccyx": "HP:0008436", + "Absent/small tailbone": "HP:0008436", + "Absent/underdeveloped tailbone": "HP:0008436", + "Bifid thoracic vertebrae": "HP:0008437", + "Vertebral arch anomaly": "HP:0008438", + "Vertebral arch abnormalities": "HP:0008438", + "Lumbar hemivertebrae": "HP:0008439", + "C1-C2 vertebral abnormality": "HP:0008440", + "Herniation of intervertebral nuclei": "HP:0008441", + "Herniated disc": "HP:0008441", + "Herniated disk": "HP:0008441", + "Herniated intervertebral nuclei": "HP:0008441", + "Vertebral hyperostosis": "HP:0008442", + "Neuropathic spinal arthropathy": "HP:0008443", + "Charcot spinal arthropathy": "HP:0008443", + "Spinal deformities": "HP:0008443", + "Spinal neuroarthropathy": "HP:0008443", + "Posterior wedging of vertebral bodies": "HP:0008444", + "Posterior wedging": "HP:0008444", + "Cervical spinal canal stenosis": "HP:0008445", + "Narrow cervical spinal canal": "HP:0008445", + "Hypoplastic coccygeal vertebrae": "HP:0008447", + "Progressive cervical vertebral spine fusion": "HP:0008449", + "Narrow vertebral interpedicular distance": "HP:0008450", + "Interpedicular narrowing": "HP:0008450", + "Narrow interpedicular space": "HP:0008450", + "Narrow interpediculate distances": "HP:0008450", + "Narrowing of interpediculate distances": "HP:0008450", + "Posterior vertebral hypoplasia": "HP:0008451", + "Wafer-thin platyspondyly": "HP:0008452", + "Congenital kyphoscoliosis": "HP:0008453", + "Lumbar kyphosis": "HP:0008454", + "Lumbar gibbus deformity": "HP:0008454", + "Rounded lower back": "HP:0008454", + "Dysplastic sacrum": "HP:0008455", + "Absence of some of the sacral and coccygeal bones": "HP:0008455", + "Partial sacral agenesis": "HP:0008455", + "Sacral dysgenesis": "HP:0008455", + "C2-C3 subluxation": "HP:0008456", + "Caudal interpedicular narrowing": "HP:0008457", + "Caudal narrowing of interpedicular distances": "HP:0008457", + "Progressive congenital scoliosis": "HP:0008458", + "Cervical vertebral agenesis": "HP:0008459", + "Cervical vertebrae agenesis": "HP:0008459", + "Missing cervical vertebrae": "HP:0008459", + "Hypoplastic spinal processes": "HP:0008460", + "Underdeveloped spinal processes": "HP:0008460", + "Cervical vertebral facet hypoplasia": "HP:0008461", + "Cervical instability": "HP:0008462", + "Central vertebral hypoplasia": "HP:0008463", + "Absent spinous processes of lower thoracic and lumbar vertebrae": "HP:0008464", + "Absent vertebra": "HP:0008465", + "Absent vertebrae": "HP:0008465", + "Thoracic hemivertebrae": "HP:0008467", + "Midthoracic hemivertebrae": "HP:0008467", + "Abnormal sacral segmentation": "HP:0008468", + "Cervical vertebral dysplasia": "HP:0008469", + "Lower thoracic interpediculate narrowness": "HP:0008470", + "Narrowness of interpediculate distances in lower thoracic regions": "HP:0008470", + "Prominent protruding coccyx": "HP:0008472", + "Large tailbone": "HP:0008472", + "Prominent protruding tailbone": "HP:0008472", + "Narrow anterio-posterior vertebral body diameter": "HP:0008473", + "Reduced anterior-posterior diameter of vertebral bodies": "HP:0008473", + "Reduced sagittal diameter of vertebrae": "HP:0008473", + "Hypoplastic sacral vertebrae": "HP:0008475", + "Irregular sclerotic endplates": "HP:0008476", + "irregular, dense end plate": "HP:0008476", + "Poorly ossified cervical vertebrae": "HP:0008477", + "Scheuermann-like vertebral changes": "HP:0008478", + "Hypoplastic vertebral bodies": "HP:0008479", + "Small vertebrae": "HP:0008479", + "Small vertebral bodies": "HP:0008479", + "Underdeveloped back bones": "HP:0008479", + "Cervical spondylosis": "HP:0008480", + "Cervical osteoarthritis": "HP:0008480", + "Cervical spine degeneration": "HP:0008480", + "Neck arthritis": "HP:0008480", + "Asymmetry of spinal facet joints": "HP:0008482", + "Cervical vertebral bodies with decreased anteroposterior diameter": "HP:0008483", + "Thoracolumbar interpediculate narrowness": "HP:0008484", + "Narrow thoracolumbar interpediculate distance": "HP:0008484", + "Lumbar interpedicular narrowing": "HP:0008486", + "Decreasing lumbar vertebrae interpediculate distance": "HP:0008486", + "Anterior rounding of vertebral bodies": "HP:0008488", + "Spondylolisthesis at L5-S1": "HP:0008489", + "Spondylolysis and spondylolisthesis of l5": "HP:0008489", + "Sacral segmentation defect": "HP:0008490", + "Premature anterior fontanel closure": "HP:0008491", + "Inferior lens subluxation": "HP:0008494", + "Inferior subluxated lens": "HP:0008494", + "Multiple rows of eyelashes": "HP:0008496", + "Extra rows of eyelashes": "HP:0008496", + "Double row of eyelashes": "HP:0008496", + "Two rows of eyelashes": "HP:0008496", + "Congenital craniofacial dysostosis": "HP:0008497", + "obsolete No permanent dentition": "HP:0008498", + "High hypermetropia": "HP:0008499", + "High hyperopia": "HP:0008499", + "High-grade hypermetropia": "HP:0008499", + "Severe farsightedness": "HP:0008499", + "Severe long-sightedness": "HP:0008499", + "obsolete Median cleft lip and palate": "HP:0008501", + "Moderate sensorineural hearing impairment": "HP:0008504", + "Moderate neural deafness": "HP:0008504", + "Static ophthalmoparesis": "HP:0008507", + "Aged leonine appearance": "HP:0008509", + "Central posterior corneal opacity": "HP:0008511", + "Bilateral conductive hearing impairment": "HP:0008513", + "Bilateral conductive deafness": "HP:0008513", + "Bilateral conductive hearing loss": "HP:0008513", + "Aplasia/Hypoplasia of the vertebrae": "HP:0008515", + "Absent/small vertebrae": "HP:0008515", + "Absent/underdeveloped vertebrae": "HP:0008515", + "Abnormality of the vertebral spinous processes": "HP:0008516", + "Aplasia/Hypoplasia of the sacrum": "HP:0008517", + "Absent/small sacrum": "HP:0008517", + "Absent/underdeveloped sacrum": "HP:0008517", + "Aplasia/Hypoplasia involving the vertebral column": "HP:0008518", + "Absent/small backbone": "HP:0008518", + "Absent/small spine": "HP:0008518", + "Absent/small vertebral column": "HP:0008518", + "Absent/underdeveloped backbone": "HP:0008518", + "Absent/underdeveloped spine": "HP:0008518", + "Absent/underdeveloped vertebral column": "HP:0008518", + "Abnormal coccyx morphology": "HP:0008519", + "Abnormal tailbone": "HP:0008519", + "Abnormality of the coccyx": "HP:0008519", + "Posterior helix pit": "HP:0008523", + "Ear, posterior helical groove": "HP:0008523", + "Ear, posterior helical notch": "HP:0008523", + "Helix, posterior pit": "HP:0008523", + "Indentation in back of outer ear": "HP:0008523", + "Pits in posterior aspect of ear helices": "HP:0008523", + "Congenital sensorineural hearing impairment": "HP:0008527", + "Bilateral congenital sensorineural deafness": "HP:0008527", + "Congenital neurosensory deafness": "HP:0008527", + "Congenital perceptive deafness": "HP:0008527", + "Congenital sensorineural deafness": "HP:0008527", + "Congenital sensorineural hearing loss": "HP:0008527", + "Hearing loss, congenital sensorineural": "HP:0008527", + "Long hairs growing from helix of pinna": "HP:0008528", + "Ear hair": "HP:0008528", + "Long hairs growing from helix of ear": "HP:0008528", + "Absence of acoustic reflex": "HP:0008529", + "Absence of acoustic middle ear muscle reflexes": "HP:0008529", + "Absent middle ear reflexes": "HP:0008529", + "Absent stapedius reflexes": "HP:0008529", + "Cleft at the superior portion of the pinna": "HP:0008537", + "Cleft at the superior portion of the ear": "HP:0008537", + "Superiorly displaced ears": "HP:0008541", + "High set ears": "HP:0008541", + "Low-frequency hearing loss": "HP:0008542", + "Abnormally folded helix": "HP:0008544", + "Microtia": "HP:0008551", + "Bilateral microtia": "HP:0008551", + "Hypoplasia of the external ear": "HP:0008551", + "Hypoplastic ears": "HP:0008551", + "Hypoplastic pinna": "HP:0008551", + "Small ears": "HP:0008551", + "Small pinnae": "HP:0008551", + "Underdeveloped ears": "HP:0008551", + "Cochlear malformation": "HP:0008554", + "Absent vestibular function": "HP:0008555", + "Hypoplastic superior helix": "HP:0008559", + "Underdeveloped superior helices": "HP:0008559", + "Vestibular areflexia": "HP:0008568", + "Vestibular ataxia": "HP:0008568", + "Microtia, second degree": "HP:0008569", + "Cockleshell ear": "HP:0008569", + "Constricted helix type IV": "HP:0008569", + "Ear, grade II dysplasia": "HP:0008569", + "Mini ear": "HP:0008569", + "Severe cupped ear, type III": "HP:0008569", + "Shell ear": "HP:0008569", + "Snail ear": "HP:0008569", + "obsolete External ear malformation": "HP:0008572", + "Low-frequency sensorineural hearing impairment": "HP:0008573", + "Low-frequency sensorineural hearing loss": "HP:0008573", + "Underfolded helix": "HP:0008577", + "Poorly folded helices": "HP:0008577", + "Underfolded superior helices": "HP:0008583", + "Hypoplasia of the cochlea": "HP:0008586", + "Hypoplastic cochlea": "HP:0008586", + "Underdeveloped cochlea": "HP:0008586", + "Mild neurosensory hearing impairment": "HP:0008587", + "Mild neurosensory hearing loss": "HP:0008587", + "Slit-like opening of the exterior auditory meatus": "HP:0008588", + "Hypoplastic helices": "HP:0008589", + "Underdeveloped helices": "HP:0008589", + "Congenital conductive hearing impairment": "HP:0008591", + "Congenital conductive deafness": "HP:0008591", + "Congenital conductive hearing loss": "HP:0008591", + "Prominent antitragus": "HP:0008593", + "Enlarged antitragus": "HP:0008593", + "Hyperplastic antitragus": "HP:0008593", + "Hypertrophic antitragus": "HP:0008593", + "Postlingual sensorineural hearing impairment": "HP:0008596", + "Mild conductive hearing impairment": "HP:0008598", + "Conductive hearing loss, mild": "HP:0008598", + "Unilateral external ear deformity": "HP:0008605", + "Deformed external ear on one side": "HP:0008605", + "Supraauricular pit": "HP:0008606", + "Pit above the ear": "HP:0008606", + "Supraauricular fistula": "HP:0008606", + "Supraauricular sinus": "HP:0008606", + "Supraauricular sinuses": "HP:0008606", + "Progressive conductive hearing impairment": "HP:0008607", + "Progressive conductive deafness": "HP:0008607", + "Hypertrophic auricular cartilage": "HP:0008608", + "Abnormal middle ear morphology": "HP:0008609", + "Middle ear malformation": "HP:0008609", + "Morphological abnormality of the middle ear": "HP:0008609", + "Infantile sensorineural hearing impairment": "HP:0008610", + "Infantile sensorineural hearing loss": "HP:0008610", + "Adult onset sensorineural hearing impairment": "HP:0008615", + "Late sensorineural hearing loss": "HP:0008615", + "Sensorineural deafness, late-onset": "HP:0008615", + "Bilateral sensorineural hearing impairment": "HP:0008619", + "Bilateral nerve deafness": "HP:0008619", + "Bilateral sensorineural deafness": "HP:0008619", + "Bilateral sensorineural hearing loss": "HP:0008619", + "Hearing loss, sensorineural, bilateral": "HP:0008619", + "Severe sensorineural hearing impairment": "HP:0008625", + "Severe sensorineural deafness": "HP:0008625", + "Severe sensorineural hearing loss": "HP:0008625", + "Abnormal stapes morphology": "HP:0008628", + "Stapedial abnormalities": "HP:0008628", + "Pulsatile tinnitus": "HP:0008629", + "Ureteral dysgenesis": "HP:0008631", + "Agonadism": "HP:0008633", + "Absent gonadal tissue": "HP:0008633", + "Gonadal agenesis": "HP:0008633", + "Urinary bladder wall hypertrophy": "HP:0008635", + "Hypertrophic urinary bladder": "HP:0008635", + "Hypertrophy of the urinary bladder wall": "HP:0008635", + "Urinary bladder wall thickening": "HP:0008635", + "obsolete Lobular glomerulopathy": "HP:0008636", + "Gonadal hypoplasia": "HP:0008639", + "Underdeveloped gonad": "HP:0008639", + "Congenital macroorchidism": "HP:0008640", + "Nephroblastomatosis": "HP:0008643", + "Pubertal developmental failure in females": "HP:0008647", + "obsolete Anteriorly displaced urethral meatus": "HP:0008648", + "Uric acid urolithiasis independent of gout": "HP:0008651", + "Autonomic erectile dysfunction": "HP:0008652", + "Impotence due to autonomic dysfunction": "HP:0008652", + "Crescentic glomerulonephritis": "HP:0008653", + "Aplasia/Hypoplasia of the fallopian tube": "HP:0008655", + "Absent/small fallopian tube": "HP:0008655", + "Absent/underdeveloped fallopian tube": "HP:0008655", + "Absent or rudimentary fallopian tubes": "HP:0008655", + "Incomplete male pseudohermaphroditism": "HP:0008656", + "Multiple small medullary renal cysts": "HP:0008659", + "Medullary cystic disease": "HP:0008659", + "Medullary sponge kidney disease": "HP:0008659", + "Renotubular dysgenesis": "HP:0008660", + "Renal tubular dysgenesis": "HP:0008660", + "Urethral stenosis": "HP:0008661", + "Narrowing of the urethra": "HP:0008661", + "Renal sarcoma": "HP:0008663", + "Urethral sphincter sclerosis": "HP:0008664", + "Clitoral hypertrophy": "HP:0008665", + "Clitoral enlargement": "HP:0008665", + "Clitoromegaly": "HP:0008665", + "Enlarged clitoris": "HP:0008665", + "Hypertrophic clitoris": "HP:0008665", + "Prominent clitoris": "HP:0008665", + "Impaired histidine renal tubular absorption": "HP:0008666", + "Gonadal dysgenesis, male": "HP:0008668", + "46,xy gonadal dysgenesis": "HP:0008668", + "Abnormal spermatogenesis": "HP:0008669", + "Impaired spermatogenesis": "HP:0008669", + "Abnormal sperm development": "HP:0008669", + "Partial vaginal septum": "HP:0008670", + "Calcium oxalate nephrolithiasis": "HP:0008672", + "Ca oxalate kidney stone": "HP:0008672", + "Ca oxalate nephrolithiasis": "HP:0008672", + "Ca oxalate urolithiasis": "HP:0008672", + "Ca2+ oxalate kidney stone": "HP:0008672", + "Ca2+ oxalate nephrolithiasis": "HP:0008672", + "Ca2+ oxalate urolithiasis": "HP:0008672", + "Calcium oxalate kidney stones": "HP:0008672", + "Oxalate nephrolithiasis": "HP:0008672", + "Calcium oxalate urolithiasis": "HP:0008672", + "Enlarged polycystic ovaries": "HP:0008675", + "Enlarged ovaries with cysts": "HP:0008675", + "Congenital megaureter": "HP:0008676", + "Congenital megaloureter": "HP:0008676", + "Primary megaloureter": "HP:0008676", + "Primary megaureter": "HP:0008676", + "Congenital nephrotic syndrome": "HP:0008677", + "Congenital nephrosis": "HP:0008677", + "Renal hypoplasia/aplasia": "HP:0008678", + "Absent/small kidney": "HP:0008678", + "Absent/underdeveloped kidney": "HP:0008678", + "Renal agenesis/hypoplasia": "HP:0008678", + "Renal aplasia/hypoplasia": "HP:0008678", + "Renal tubular epithelial necrosis": "HP:0008682", + "Acute tubular necrosis": "HP:0008682", + "Renal tubular necrosis": "HP:0008682", + "Enlarged labia minora": "HP:0008683", + "Hypertrophic labia minora": "HP:0008683", + "Labia minora hypertrophy": "HP:0008683", + "Aplasia/hypoplasia of the uterus": "HP:0008684", + "Absent/small uterus": "HP:0008684", + "Absent/underdeveloped uterus": "HP:0008684", + "Hypoplasia of the prostate": "HP:0008687", + "Hypoplastic prostate": "HP:0008687", + "Underdeveloped prostate": "HP:0008687", + "Bilateral cryptorchidism": "HP:0008689", + "Cryptorchidism, bilateral": "HP:0008689", + "Solitary bladder diverticulum": "HP:0008691", + "obsolete Hypertrophic labia minora": "HP:0008694", + "Transient nephrotic syndrome": "HP:0008695", + "Transient nephrosis": "HP:0008695", + "Renal hamartoma": "HP:0008696", + "Hypoplasia of the fallopian tube": "HP:0008697", + "Rudimentary fallopian tubes": "HP:0008697", + "Underdeveloped fallopian tube": "HP:0008697", + "Absent internal genitalia": "HP:0008702", + "Gonadal calcification": "HP:0008703", + "Ureteral triplication": "HP:0008705", + "Distal urethral duplication": "HP:0008706", + "Absent scrotum": "HP:0008707", + "Partial development of the penile shaft": "HP:0008708", + "Benign prostatic hyperplasia": "HP:0008711", + "Benign prostatic hypertrophy": "HP:0008711", + "Ureterovesical stenosis": "HP:0008714", + "Testicular dysgenesis": "HP:0008715", + "Urethrovaginal fistula": "HP:0008716", + "Urethrovaginal fistulae": "HP:0008716", + "Unilateral renal atrophy": "HP:0008717", + "Kidney degeneration on one side": "HP:0008717", + "Unilateral kidney wasting": "HP:0008717", + "Unilateral renal dysplasia": "HP:0008718", + "Primary testicular failure": "HP:0008720", + "Urethral diverticulum": "HP:0008722", + "Gonadal dysgenesis with female appearance, male": "HP:0008723", + "Xy female gonadal dysgenesis": "HP:0008723", + "Hypoplasia of the ovary": "HP:0008724", + "Hypoplastic ovary": "HP:0008724", + "Underdeveloped ovary": "HP:0008724", + "Hypoplasia of the vagina": "HP:0008726", + "Hypoplastic vagina": "HP:0008726", + "Rudimentary vagina": "HP:0008726", + "Underdeveloped vagina": "HP:0008726", + "Absence of labia majora": "HP:0008729", + "Absent vaginal lips": "HP:0008729", + "Female external genitalia in individual with 46,XY karyotype": "HP:0008730", + "Males with female external genitalia": "HP:0008730", + "Renal hypophosphatemia": "HP:0008732", + "Dysplastic testes": "HP:0008733", + "Decreased testicular size": "HP:0008734", + "Hypoplastic testes": "HP:0008734", + "Small testes": "HP:0008734", + "Small testis": "HP:0008734", + "Testicular hypoplasia": "HP:0008734", + "Hypoplasia of penis": "HP:0008736", + "Underdeveloped penis": "HP:0008736", + "Partially duplicated kidney": "HP:0008738", + "Labial pseudohypertrophy": "HP:0008739", + "Longitudinal vaginal septum": "HP:0008740", + "Vertical vaginal septum": "HP:0008740", + "Prominent prostate median bar": "HP:0008742", + "Coronal hypospadias": "HP:0008743", + "Subcoronal hypospadias": "HP:0008743", + "Abnormal aryepiglottic fold morphology": "HP:0008744", + "Abnormal aryepiglottic folds": "HP:0008744", + "Abnormality of the aryepiglottic fold": "HP:0008744", + "Cartilaginous ossification of larynx": "HP:0008747", + "Laryngeal hypoplasia": "HP:0008749", + "Hypoplastic larynx": "HP:0008749", + "Laryngeal atresia": "HP:0008750", + "Laryngeal cleft": "HP:0008751", + "Laryngotracheal cleft": "HP:0008751", + "Laryngotracheoesophageal cleft i": "HP:0008751", + "Laryngeal cartilage malformation": "HP:0008752", + "Vocal impairment, severe, due to laryngeal cartilage abnormalities": "HP:0008752", + "Aplasia of the epiglottis": "HP:0008753", + "Absent epiglottis": "HP:0008753", + "Laryngeal calcification": "HP:0008754", + "Laryngeal calcifications": "HP:0008754", + "Laryngotracheomalacia": "HP:0008755", + "Bowing of the vocal cords": "HP:0008756", + "Unilateral vocal cord paralysis": "HP:0008757", + "Unilateral paralysis of the vocal cord": "HP:0008757", + "Violent behavior": "HP:0008760", + "Violent behaviour": "HP:0008760", + "Repetitive compulsive behavior": "HP:0008762", + "Repetitive compulsive behaviour": "HP:0008762", + "No social interaction": "HP:0008763", + "Auditory hallucination": "HP:0008765", + "Hallucinations of sound": "HP:0008765", + "Hearing sounds": "HP:0008765", + "Self-mutilation of tongue and lips due to involuntary movements": "HP:0008767", + "Abnormal sexual behavior": "HP:0008768", + "Inappropriate sexual behavior": "HP:0008768", + "Inappropriate sexual behaviour": "HP:0008768", + "Obsessive-compulsive trait": "HP:0008770", + "Obsessive-compulsive traits": "HP:0008770", + "Aplasia/Hypoplasia of the ear": "HP:0008771", + "Absent/small ear": "HP:0008771", + "Absent/underdeveloped ear": "HP:0008771", + "Aplasia/Hypoplasia of the external ear": "HP:0008772", + "Absent/small external ear": "HP:0008772", + "Absent/underdeveloped external ear": "HP:0008772", + "Aplasia/Hypoplasia of the middle ear": "HP:0008773", + "Absent/small middle ear": "HP:0008773", + "Absent/underdeveloped middle ear": "HP:0008773", + "Hypoplastic/aplastic middle ear structures": "HP:0008773", + "Middle ear hypoplasia/aplasia": "HP:0008773", + "Aplasia/Hypoplasia of the inner ear": "HP:0008774", + "Absent/small inner ear": "HP:0008774", + "Absent/underdeveloped inner ear": "HP:0008774", + "Abnormal prostate morphology": "HP:0008775", + "Abnormality of the prostate": "HP:0008775", + "Abnormal renal artery morphology": "HP:0008776", + "Abnormal kidney artery": "HP:0008776", + "Abnormality of the renal artery": "HP:0008776", + "Abnormal vocal cord morphology": "HP:0008777", + "Abnormality of the vocal cords": "HP:0008777", + "Congenital bilateral hip dislocation": "HP:0008780", + "Wide proximal femoral metaphysis": "HP:0008783", + "Wide metaphysis of innermost thighbone": "HP:0008783", + "Wide capital femoral epiphyses": "HP:0008784", + "Wide end part of innermost thighbone": "HP:0008784", + "Delayed ossification of pubic rami": "HP:0008785", + "Iliac crest serration": "HP:0008786", + "Irregular lacy iliac crest": "HP:0008786", + "Lacy appearance of iliac crest": "HP:0008786", + "Delayed pubic bone ossification": "HP:0008788", + "Absent pubic ossification in infancy": "HP:0008788", + "Delayed maturation of pubic bone": "HP:0008788", + "Delayed mineralization of pubic bone": "HP:0008788", + "Cone-shaped capital femoral epiphysis": "HP:0008789", + "Cone-shaped end part of innermost thighbone": "HP:0008789", + "Tear drop-shaped capital femoral epiphysis": "HP:0008789", + "Dysplastic iliac wing": "HP:0008794", + "Dysplastic iliac wings": "HP:0008794", + "Femoral retroversion": "HP:0008796", + "Decreased femoral torsion": "HP:0008796", + "Externally rotated hips": "HP:0008796", + "Early ossification of capital femoral epiphyses": "HP:0008797", + "Widened greater sciatic notch": "HP:0008798", + "Widened sacrosciatic notch": "HP:0008798", + "Widening of the sacrosciatic notch": "HP:0008798", + "Limited hip movement": "HP:0008800", + "Hypoplasia of the lesser trochanter": "HP:0008801", + "Lesser trochanter hypoplasia": "HP:0008801", + "Hypoplasia of the femoral head": "HP:0008802", + "Hypoplastic femoral head": "HP:0008802", + "Small femoral heads": "HP:0008802", + "Small head of thigh bone": "HP:0008802", + "obsolete Narrow sacroiliac notch": "HP:0008803", + "Broad femoral head": "HP:0008804", + "Wide head of thigh bone": "HP:0008804", + "Acetabular dysplasia": "HP:0008807", + "Dysplastic acetabulae": "HP:0008807", + "Decreased femoral head coverage by acetabulum": "HP:0008807", + "High iliac wing": "HP:0008808", + "High iliac wings": "HP:0008808", + "Narrow, high iliac wings": "HP:0008808", + "Flattened femoral head": "HP:0008812", + "Flat head of thigh bone": "HP:0008812", + "Flattened femoral heads": "HP:0008812", + "Aplastic pubic bone": "HP:0008817", + "Absent pubic bones": "HP:0008817", + "Aplastic pubic bones": "HP:0008817", + "Large iliac wing": "HP:0008818", + "Large iliac wings": "HP:0008818", + "Narrow femoral neck": "HP:0008819", + "Narrow neck of thigh bone": "HP:0008819", + "Narrow femoral necks": "HP:0008819", + "Absent ossification of capital femoral epiphysis": "HP:0008820", + "Absent ossification of femoral capital epiphyses": "HP:0008820", + "Hypoplastic inferior ilia": "HP:0008821", + "Hypoplastic ischiopubic ramus": "HP:0008822", + "Hypoplastic ischiopubic rami": "HP:0008822", + "Inferior pubic ramus hypoplasia": "HP:0008823", + "Hypoplastic inferior pubic rami": "HP:0008823", + "Hypoplastic iliac body": "HP:0008824", + "Hypoplastic iliac bodies": "HP:0008824", + "Small iliac bodies": "HP:0008824", + "obsolete Dislocation of the femoral head": "HP:0008826", + "Delayed proximal femoral epiphyseal ossification": "HP:0008828", + "Delayed ossification of the proximal femoral epiphysis": "HP:0008828", + "Delayed ossification proximal femoral epiphyses": "HP:0008828", + "Delayed femoral head ossification": "HP:0008829", + "Delayed maturation of the head of the thigh bone": "HP:0008829", + "Hypoplastic pubic ramus": "HP:0008830", + "Hypoplastic pubic rami": "HP:0008830", + "Irregular acetabular roof": "HP:0008833", + "Multicentric femoral head ossification": "HP:0008835", + "Stippled calcification proximal humeral epiphyses": "HP:0008838", + "Speckled calcifications in end part of innermost long bone of upper arm": "HP:0008838", + "Hypoplastic pelvis": "HP:0008839", + "Hypoplastic pelvic bones": "HP:0008839", + "Small pelvis": "HP:0008839", + "Hip osteoarthritis": "HP:0008843", + "Osteoarthritis of hip": "HP:0008843", + "Mesomelic short stature": "HP:0008845", + "Dwarfism, short limb mesomelic": "HP:0008845", + "Mesomelic dwarfism": "HP:0008845", + "Short stature, disproportionate mesomelic": "HP:0008845", + "Short stature, mesomelic": "HP:0008845", + "Severe intrauterine growth retardation": "HP:0008846", + "Intrauterine growth retardation, severe": "HP:0008846", + "Severe prenatal growth deficiency": "HP:0008846", + "Moderately short stature": "HP:0008848", + "Moderate short stature": "HP:0008848", + "Short stature, moderate": "HP:0008848", + "Severe postnatal growth retardation": "HP:0008850", + "Marked growth retardation": "HP:0008850", + "Severe growth delay in children": "HP:0008850", + "Severe postnatal growth deficiency": "HP:0008850", + "Severe postnatal growth failure": "HP:0008850", + "Moderate postnatal growth retardation": "HP:0008855", + "Moderate growth delay in children": "HP:0008855", + "Neonatal short-trunk short stature": "HP:0008857", + "Short-trunk dwarfism identifiable at birth": "HP:0008857", + "Failure to thrive secondary to recurrent infections": "HP:0008866", + "Faltering weight secondary to recurrent infections": "HP:0008866", + "Weight faltering secondary to recurrent infections": "HP:0008866", + "Feeding difficulties in infancy": "HP:0008872", + "Disproportionate short-limb short stature": "HP:0008873", + "Brachymelic dwarfism": "HP:0008873", + "Disproportionate short limb dwarfism": "HP:0008873", + "Dwarfism, short-limbed": "HP:0008873", + "Micromelic dwarfism": "HP:0008873", + "Short limb dwarfism, disproportionate": "HP:0008873", + "Short stature, disproportionate short limb": "HP:0008873", + "Short stature, disproportionate short-limb": "HP:0008873", + "Short-limb dwarfism": "HP:0008873", + "Short-limbed dwarfism": "HP:0008873", + "Short limb dwarfism": "HP:0008873", + "Mild intrauterine growth retardation": "HP:0008883", + "Mild prenatal growth deficiency": "HP:0008883", + "Adipose tissue loss": "HP:0008887", + "Loss of fat tissue": "HP:0008887", + "Severe short-limb dwarfism": "HP:0008890", + "Postnatal growth retardation": "HP:0008897", + "Growth delay as children": "HP:0008897", + "Growth retardation as children": "HP:0008897", + "Postnatal growth deceleration": "HP:0008897", + "Postnatal growth deficiency": "HP:0008897", + "Postnatal growth failure": "HP:0008897", + "Rhizomelia": "HP:0008905", + "Disproportionately short upper portion of limb": "HP:0008905", + "Rhizomelic dwarfism": "HP:0008905", + "Rhizomelic limb shortening": "HP:0008905", + "Rhizomelic short limbs": "HP:0008905", + "Rhizomelic short stature": "HP:0008905", + "Rhizomelic shortening": "HP:0008905", + "Short stature, rhizomelic": "HP:0008905", + "Symmetrical rhizomelic limb shortening": "HP:0008905", + "Lethal short-limbed short stature": "HP:0008909", + "Lethal micromelic dwarfism": "HP:0008909", + "Lethal short-limbed dwarfism": "HP:0008909", + "Childhood-onset truncal obesity": "HP:0008915", + "Truncal obesity apparent in childhood": "HP:0008915", + "Neonatal short-limb short stature": "HP:0008921", + "Dwarfism, neonatal short-limbed": "HP:0008921", + "Neonatal short-limbed dwarfism": "HP:0008921", + "Short limb dwarfism recognisable at birth": "HP:0008921", + "Short limb dwarfism recognizable at birth": "HP:0008921", + "Short-limb dwarfism identifiable at birth": "HP:0008921", + "Short-limb dwarfism identifiable neonatally": "HP:0008921", + "Short-limbed dwarfism identifiable at birth": "HP:0008921", + "Childhood-onset short-trunk short stature": "HP:0008922", + "Disproportionate short-trunk short stature, identifiable in childhood": "HP:0008922", + "Short-trunk dwarfism identifiable during childhood": "HP:0008922", + "Asymmetric short stature": "HP:0008929", + "Generalized neonatal hypotonia": "HP:0008935", + "Generalised low muscle tone in neonate": "HP:0008935", + "Generalised neonatal hypotonia": "HP:0008935", + "Generalized low muscle tone in neonate": "HP:0008935", + "Hypotonia, neonatal, generalised": "HP:0008935", + "Hypotonia, neonatal, generalized": "HP:0008935", + "Axial hypotonia": "HP:0008936", + "Low muscle tone in trunk": "HP:0008936", + "Muscular hypotonia of the trunk": "HP:0008936", + "Truncal hypotonia": "HP:0008936", + "Generalized lymphadenopathy": "HP:0008940", + "Generalised lymphadenopathy": "HP:0008940", + "Generalised swelling of lymph nodes": "HP:0008940", + "Generalized swelling of lymph nodes": "HP:0008940", + "Swollen lymph nodes affecting all regions of the body": "HP:0008940", + "Acute rhabdomyolysis": "HP:0008942", + "Rhabdomyolysis, acute": "HP:0008942", + "Distal lower limb amyotrophy": "HP:0008944", + "Lower leg amyotrophy": "HP:0008944", + "Lower limb degeneration": "HP:0008944", + "Muscle atrophy, lower limb, distal": "HP:0008944", + "Lower limb atrophy": "HP:0008944", + "Lower limb muscle hypotrophy": "HP:0008944", + "Loss of ability to walk in early childhood": "HP:0008945", + "Pelvic girdle amyotrophy": "HP:0008946", + "Hip girdle amyotrophy": "HP:0008946", + "Infantile muscular hypotonia": "HP:0008947", + "Decreased muscle tone in infant": "HP:0008947", + "Hypotonia early": "HP:0008947", + "Hypotonia in infancy": "HP:0008947", + "Hypotonia, early": "HP:0008947", + "Infantile hypotonia": "HP:0008947", + "Proximal upper limb amyotrophy": "HP:0008948", + "Proximal muscle atrophy in upper limbs": "HP:0008948", + "Proximal upper limb muscle atrophy": "HP:0008948", + "Shoulder muscle hypoplasia": "HP:0008952", + "Underdeveloped shoulder muscle": "HP:0008952", + "Pectoralis major hypoplasia": "HP:0008953", + "Pectoralis major muscle hypoplasia": "HP:0008953", + "Intrinsic hand muscle atrophy": "HP:0008954", + "Progressive distal muscular atrophy": "HP:0008955", + "Proximal lower limb amyotrophy": "HP:0008956", + "Amyotrophy involving the thigh": "HP:0008956", + "Amyotrophy of the thigh musculature": "HP:0008956", + "Proximal lower limb muscle atrophy": "HP:0008956", + "Thigh muscle atrophy": "HP:0008956", + "Wasting of thigh muscle": "HP:0008956", + "Distal upper limb muscle weakness": "HP:0008959", + "Calf muscle hypoplasia": "HP:0008962", + "Hypoplastic calf muscles": "HP:0008962", + "Underdeveloped calf muscles": "HP:0008962", + "Tibialis muscle weakness": "HP:0008963", + "Nonprogressive muscular atrophy": "HP:0008964", + "Exercise-induced muscle stiffness": "HP:0008967", + "Muscle stiffness with exercise": "HP:0008967", + "Muscle stiffness, exercise-induced": "HP:0008967", + "Muscle hypertrophy of the lower extremities": "HP:0008968", + "Leg muscle stiffness": "HP:0008969", + "Scapulohumeral muscular dystrophy": "HP:0008970", + "Decreased activity of mitochondrial respiratory chain": "HP:0008972", + "Decreased activities of mitochondrial-encoded respiratory chain complexes": "HP:0008972", + "Decreased activity of mitochondrial respiratory complexes": "HP:0008972", + "Necrotizing myopathy": "HP:0008978", + "Calf muscle hypertrophy": "HP:0008981", + "Calf hypertrophy": "HP:0008981", + "Increased size of calf muscles": "HP:0008981", + "Muscular hypertrophy of the calf muscles": "HP:0008981", + "Neck muscle hypoplasia": "HP:0008984", + "Decreased size of neck muscle": "HP:0008984", + "Small neck muscle": "HP:0008984", + "Underdevelopment of neck muscle": "HP:0008984", + "Deficiency of neck muscle": "HP:0008984", + "Hypotrophic neck muscle": "HP:0008984", + "Increased intramuscular fat": "HP:0008985", + "Increased IM fat": "HP:0008985", + "Agenesis of the diaphragm": "HP:0008986", + "Absent diaphragm": "HP:0008986", + "Agenesis of diaphragm": "HP:0008986", + "Pelvic girdle muscle atrophy": "HP:0008988", + "Pelvic girdle muscle wasting": "HP:0008988", + "Exercise-induced leg cramps": "HP:0008991", + "Increased intraabdominal fat": "HP:0008993", + "Proximal muscle weakness in lower limbs": "HP:0008994", + "Muscle weakness, proximal, lower limbs": "HP:0008994", + "Proximal muscle weakness in upper limbs": "HP:0008997", + "Pectoralis hypoplasia": "HP:0008998", + "Hypoplastic pectoral muscle": "HP:0008998", + "Small pec muscle": "HP:0008998", + "Underdeveloped pec muscle": "HP:0008998", + "Loss of truncal subcutaneous adipose tissue": "HP:0009002", + "Loss of fat tissue in trunk": "HP:0009002", + "Loss of subcutaneous truncal adipose tissue": "HP:0009002", + "Loss of truncal adipose tissue": "HP:0009002", + "Increased subcutaneous truncal adipose tissue": "HP:0009003", + "Increased fat below the skin in trunk": "HP:0009003", + "Hypoplasia of the musculature": "HP:0009004", + "Muscle hypoplasia": "HP:0009004", + "Poorly developed skeletal musculature": "HP:0009004", + "Underdeveloped muscle": "HP:0009004", + "Underdeveloped muscles": "HP:0009004", + "Weakness of the intrinsic hand muscles": "HP:0009005", + "Intrinsic hand muscle weakness": "HP:0009005", + "Biceps hypoplasia": "HP:0009007", + "Hypoplastic biceps": "HP:0009007", + "Underdeveloped biceps": "HP:0009007", + "Hypoplasia of serratus anterior muscle": "HP:0009011", + "Congenital absence of gluteal muscles": "HP:0009013", + "Upper limb muscle hypoplasia": "HP:0009016", + "Underdevelopment of upper limb muscles": "HP:0009016", + "Loss of gluteal subcutaneous adipose tissue": "HP:0009017", + "Loss of fat tissue below the skin in gluts": "HP:0009017", + "Progressive loss of facial adipose tissue": "HP:0009019", + "Atrophy of facial adipose tissue": "HP:0009019", + "Facial fat atrophy": "HP:0009019", + "Facial fat wasting": "HP:0009019", + "Loss of subcutaneous adipose tissue from face, progressive": "HP:0009019", + "Progressive loss of facial fat": "HP:0009019", + "Progressive loss of facial subcutaneous adipose tissue": "HP:0009019", + "Progressive loss of subcutaneous adipose tissue from face": "HP:0009019", + "Exercise-induced muscle fatigue": "HP:0009020", + "Abdominal wall muscle weakness": "HP:0009023", + "Lax abdominal musculature": "HP:0009023", + "Increased connective tissue": "HP:0009025", + "Hypoplasia of latissimus dorsi muscle": "HP:0009026", + "Foot dorsiflexor weakness": "HP:0009027", + "Foot drop": "HP:0009027", + "Foot extensor weakness": "HP:0009027", + "Footdrop": "HP:0009027", + "Inability to heel walk": "HP:0009027", + "Inability to walk on heels": "HP:0009027", + "Generalized weakness of limb muscles": "HP:0009028", + "Generalised weakness of limb muscles": "HP:0009028", + "Amyotrophy of ankle musculature": "HP:0009031", + "Segmental spinal muscular atrophy": "HP:0009037", + "obsolete Marked muscular hypertrophy": "HP:0009042", + "obsolete Hypoplasia of deltoid muscle": "HP:0009044", + "Exercise-induced rhabdomyolysis": "HP:0009045", + "Rhabdomyolysis with exercise": "HP:0009045", + "Difficulty running": "HP:0009046", + "Peroneal muscle atrophy": "HP:0009049", + "Peroneal atrophy": "HP:0009049", + "Quadriceps muscle atrophy": "HP:0009050", + "Wasting of quad muscles": "HP:0009050", + "Increased muscle glycogen content": "HP:0009051", + "Distal lower limb muscle weakness": "HP:0009053", + "Distal muscle weakness in lower limbs": "HP:0009053", + "Muscle weakness, lower limb, distal": "HP:0009053", + "Scapuloperoneal myopathy": "HP:0009054", + "Generalized limb muscle atrophy": "HP:0009055", + "Generalised limb muscle atrophy": "HP:0009055", + "Generalised muscle atrophy, proximal and distal": "HP:0009055", + "Generalised muscle wasting": "HP:0009055", + "Generalized muscle atrophy, proximal and distal": "HP:0009055", + "Generalized muscle wasting": "HP:0009055", + "Loss of subcutaneous adipose tissue from upper limbs": "HP:0009056", + "Loss of fat tissue below the skin from upper limbs": "HP:0009056", + "Increased muscle lipid content": "HP:0009058", + "Fat accumulation in muscle fibers": "HP:0009058", + "Fat accumulation in muscle fibres": "HP:0009058", + "Fat deposits in muscle fibers": "HP:0009058", + "Fat deposits in muscle fibres": "HP:0009058", + "Lipid accumulation in skeletal muscle": "HP:0009058", + "Muscle lipidosis": "HP:0009058", + "Skeletal muscle lipid accumulation": "HP:0009058", + "Congenital generalized lipodystrophy": "HP:0009059", + "Congenital generalised lipodystrophy": "HP:0009059", + "Scapular muscle atrophy": "HP:0009060", + "obsolete Infantile axial hypotonia": "HP:0009062", + "Progressive distal muscle weakness": "HP:0009063", + "Muscle weakness, distal, progressive": "HP:0009063", + "Muscle weakness, progressive, distal": "HP:0009063", + "Generalized lipodystrophy": "HP:0009064", + "Generalised lipodystrophy": "HP:0009064", + "Lipodystrophy, generalised": "HP:0009064", + "Lipodystrophy, generalized": "HP:0009064", + "Progressive spinal muscular atrophy": "HP:0009067", + "Progressive spinal muscle degeneration": "HP:0009067", + "Progressive spinal muscle wasting": "HP:0009067", + "Lethal infantile mitochondrial myopathy": "HP:0009069", + "Inflammatory myopathy": "HP:0009071", + "Decreased Achilles reflex": "HP:0009072", + "Hyporeflexia at ankle joints": "HP:0009072", + "Progressive proximal muscle weakness": "HP:0009073", + "Muscle weakness, progressive, proximal": "HP:0009073", + "Weakness of long finger extensor muscles": "HP:0009077", + "Midline notch of upper alveolar ridge": "HP:0009084", + "Midline cleft of maxillary alveolar process": "HP:0009084", + "Midline cleft of upper alveolar ridge": "HP:0009084", + "Midline notch of maxillary alveolar process": "HP:0009084", + "Midline notch of maxillary alveolar ridge": "HP:0009084", + "Midline notch of upper gum ridge": "HP:0009084", + "Alveolar ridge overgrowth": "HP:0009085", + "Increased size of gum ridge": "HP:0009085", + "Alveolar ridge excess": "HP:0009085", + "Enlarged alveolar ridge": "HP:0009085", + "Hyperplasia of alveolar process of jaw": "HP:0009085", + "Hyperplasia of alveolar ridge": "HP:0009085", + "Increased size of alveolar ridge": "HP:0009085", + "Overgrowth of alveolar ridge": "HP:0009085", + "Overgrowth of gum ridge": "HP:0009085", + "Thick alveolar ridges": "HP:0009085", + "Thickened alveolar ridges": "HP:0009085", + "Hypertrophied alveolar ridge": "HP:0009085", + "Posteriorly placed tongue": "HP:0009087", + "Speech articulation difficulties": "HP:0009088", + "obsolete Facial diplegic appearance": "HP:0009090", + "Progressive alveolar ridge hypertrophy": "HP:0009092", + "Increasing size of gum ridge": "HP:0009092", + "Progressive hypertrophy of alveolar process of jaw": "HP:0009092", + "Increasing overgrowth of gum ridge": "HP:0009092", + "Cleft lower alveolar ridge": "HP:0009094", + "Cleft of lower gum ridge": "HP:0009094", + "Notch of lower alveolar ridge": "HP:0009094", + "Notch of lower gum ridge": "HP:0009094", + "Notch of mandibular alveolar ridge": "HP:0009094", + "Cleft of lower alveolar process": "HP:0009094", + "Cleft of lower gingiva": "HP:0009094", + "Cleft of mandibular alveolar process": "HP:0009094", + "Cleft of mandibular gingiva": "HP:0009094", + "Notch of lower alveolar process": "HP:0009094", + "Notch of mandibular alveolar process": "HP:0009094", + "Chronic oral candidiasis": "HP:0009098", + "Chronic oral thrush": "HP:0009098", + "Median cleft palate": "HP:0009099", + "Central cleft palate": "HP:0009099", + "Midline cleft palate": "HP:0009099", + "Thick anterior alveolar ridges": "HP:0009100", + "Thick anterior alveolar process of jaw": "HP:0009100", + "Submucous cleft lip": "HP:0009101", + "Submucous labial cleft": "HP:0009101", + "Anterior open-bite malocclusion": "HP:0009102", + "AOB": "HP:0009102", + "Absence of overlap of anterior upper and lower teeth": "HP:0009102", + "Anterior open bite": "HP:0009102", + "Anterior open bite between upper and lower teeth": "HP:0009102", + "Anterior openbite": "HP:0009102", + "Apertognathia malocclusion": "HP:0009102", + "Gap between upper and lower front teeth when biting": "HP:0009102", + "Aplasia/Hypoplasia involving the pelvis": "HP:0009103", + "Absent/small pelvis": "HP:0009103", + "Absent/underdeveloped pelvis": "HP:0009103", + "Aplasia/Hypoplasia of the pubic bone": "HP:0009104", + "Absent/small pubic bones": "HP:0009104", + "Absent/underdeveloped pubic bones": "HP:0009104", + "Hypoplastic/aplastic pubic bones": "HP:0009104", + "Abnormal ossification of the pubic bone": "HP:0009105", + "Abnormal maturation of the pubic bone": "HP:0009105", + "Abnormal pelvis bone ossification": "HP:0009106", + "Abnormal ossification involving the bones of the pelvis": "HP:0009106", + "Abnormal maturation of the pelvis bone": "HP:0009106", + "Abnormal ossification involving the femoral head and neck": "HP:0009107", + "Abnormal maturation of thigh bone head and neck": "HP:0009107", + "Aplasia/Hypoplasia involving the femoral head and neck": "HP:0009108", + "Absent/small head and neck of thighbone": "HP:0009108", + "Absent/underdeveloped head and neck of thighbone": "HP:0009108", + "Denervation of the diaphragm": "HP:0009109", + "Diaphragmatic eventration": "HP:0009110", + "Eventration of the diaphragm": "HP:0009110", + "Aplasia of the left hemidiaphragm": "HP:0009112", + "Absent left hemidiaphragm": "HP:0009112", + "Left diaphragmatic hernia": "HP:0009112", + "Diaphragmatic weakness": "HP:0009113", + "Diaphragmatic paraparesis": "HP:0009113", + "Weak diaphragm": "HP:0009113", + "Diminished diaphragmatic motion": "HP:0009113", + "Aplasia/hypoplasia involving the skeleton": "HP:0009115", + "Absent/small skeleton": "HP:0009115", + "Absent/underdeveloped skeleton": "HP:0009115", + "Aplasia/Hypoplasia involving bones of the skull": "HP:0009116", + "Aplasia/Hypoplasia of the maxilla": "HP:0009117", + "Underdevelopment of maxilla": "HP:0009117", + "Underdevelopment of upper jaw bones": "HP:0009117", + "Aplasia/Hypoplasia of the mandible": "HP:0009118", + "Aplasia/Hypoplasia of the frontal sinuses": "HP:0009119", + "Abnormally small frontal sinus": "HP:0009119", + "Aplasia/Hypoplasia involving the sinuses": "HP:0009120", + "Abnormal axial skeleton morphology": "HP:0009121", + "Abnormality of the axial skeleton": "HP:0009121", + "Aplasia/hypoplasia affecting bones of the axial skeleton": "HP:0009122", + "Mixed hypo- and hyperpigmentation of the skin": "HP:0009123", + "Abnormal adipose tissue morphology": "HP:0009124", + "Abnormality of adipose tissue": "HP:0009124", + "Abnormality of fat tissue": "HP:0009124", + "Abnormality of fatty tissue": "HP:0009124", + "Lipodystrophy": "HP:0009125", + "Inability to make and keep healthy fat tissue": "HP:0009125", + "Increased adipose tissue": "HP:0009126", + "Increased fat tissue": "HP:0009126", + "Abnormality of the musculature of the limbs": "HP:0009127", + "Abnormal limb muscles": "HP:0009127", + "Muscle issues in the arms and/or legs": "HP:0009127", + "Aplasia/Hypoplasia involving the musculature of the extremities": "HP:0009128", + "Absent/small muscles of extremities": "HP:0009128", + "Absent/underdeveloped muscles of extremities": "HP:0009128", + "Upper limb amyotrophy": "HP:0009129", + "Amyotrophy involving the upper limbs": "HP:0009129", + "Hand muscle atrophy": "HP:0009130", + "Amyotrophy involving the musculature of the hand": "HP:0009130", + "Amyotrophy of hand muscles": "HP:0009130", + "Hand muscle degeneration": "HP:0009130", + "Hand muscle wasting": "HP:0009130", + "Hand muscle wasting, bilateral": "HP:0009130", + "Abnormality of the musculature of the thorax": "HP:0009131", + "Abnormal tarsal bone mineral density": "HP:0009132", + "Abnormality of bone mineral density involving tarsal bones": "HP:0009132", + "Osteolysis involving bones of the feet": "HP:0009134", + "Duplication involving bones of the feet": "HP:0009136", + "Synostosis involving bones of the lower limbs": "HP:0009138", + "Fusion involving the bones of the lower limbs": "HP:0009138", + "Osteolysis involving bones of the lower limbs": "HP:0009139", + "Synostosis involving bones of the feet": "HP:0009140", + "Fusion involving the bones of the feet": "HP:0009140", + "Depletion of mitochondrial DNA in muscle tissue": "HP:0009141", + "Depletion of mitochondrial dna in skeletal muscle tissue": "HP:0009141", + "Duplication of bones involving the upper extremities": "HP:0009142", + "Supernumerary bones of the axial skeleton": "HP:0009144", + "Abnormal cerebral artery morphology": "HP:0009145", + "Abnormality of cerebral artery": "HP:0009145", + "Abnormality of the cerebral arteries": "HP:0009145", + "Enlarged epiphysis of the distal phalanx of the 5th finger": "HP:0009147", + "Enlarged end part of the outermost bone of little finger": "HP:0009147", + "Enlarged end part of the outermost bone of pinkie finger": "HP:0009147", + "Enlarged end part of the outermost bone of pinky finger": "HP:0009147", + "Small epiphysis of the distal phalanx of the 5th finger": "HP:0009148", + "Small end part of the outermost bone of little finger": "HP:0009148", + "Small end part of the outermost bone of pinkie finger": "HP:0009148", + "Small end part of the outermost bone of pinky finger": "HP:0009148", + "Triangular epiphysis of the distal phalanx of the 5th finger": "HP:0009149", + "Delta-shaped epiphysis of the distal phalanx of the 5th finger": "HP:0009149", + "Triangular end part of the outermost bone of little finger": "HP:0009149", + "Triangular end part of the outermost bone of pinkie finger": "HP:0009149", + "Triangular end part of the outermost bone of pinky finger": "HP:0009149", + "Abnormality of the proximal phalanx of the 5th finger": "HP:0009150", + "Abnormality of the innermost bone little finger": "HP:0009150", + "Abnormality of the innermost bone pinkie finger": "HP:0009150", + "Abnormality of the innermost bone pinky finger": "HP:0009150", + "Abnormality of the epiphyses of the 5th finger": "HP:0009152", + "Abnormality of end part of little finger bone": "HP:0009152", + "Abnormality of end part of pinkie finger bone": "HP:0009152", + "Abnormality of end part of pinky finger bone": "HP:0009152", + "Abnormality of the epiphysis of the proximal phalanx of the 5th finger": "HP:0009153", + "Abnormality of end part of the innermost bone of little finger": "HP:0009153", + "Abnormality of end part of the innermost bone of pinkie finger": "HP:0009153", + "Abnormality of end part of the innermost bone of pinky finger": "HP:0009153", + "Triangular epiphysis of the proximal phalanx of the 5th finger": "HP:0009154", + "Delta-shaped epiphysis of the proximal phalanx of the 5th finger": "HP:0009154", + "Triangular end part of the innermost bone of little finger": "HP:0009154", + "Triangular end part of the innermost bone of pinkie finger": "HP:0009154", + "Triangular end part of the innermost bone of pinky finger": "HP:0009154", + "Cone-shaped epiphysis of the proximal phalanx of the 5th finger": "HP:0009155", + "Cone-shaped end part of the innermost bone of little finger": "HP:0009155", + "Cone-shaped end part of the innermost bone of pinkie finger": "HP:0009155", + "Cone-shaped end part of the innermost bone of pinky finger": "HP:0009155", + "Angel-shaped epiphysis of the proximal phalanx of the 5th finger": "HP:0009155", + "Cone-shaped epiphysis of the proximal phalanx of the little finger": "HP:0009155", + "Ivory epiphysis of the proximal phalanx of the 5th finger": "HP:0009157", + "Increased bone density of end part of the innermost bone of little finger": "HP:0009157", + "Increased bone density of end part of the innermost bone of pinkie finger": "HP:0009157", + "Increased bone density of end part of the innermost bone of pinky finger": "HP:0009157", + "Ivory epiphysis of the proximal phalanx of the little finger": "HP:0009157", + "Enlarged epiphysis of the proximal phalanx of the 5th finger": "HP:0009158", + "Enlarged end part of the innermost bone of little finger": "HP:0009158", + "Enlarged end part of the innermost bone of pinkie finger": "HP:0009158", + "Enlarged end part of the innermost bone of pinky finger": "HP:0009158", + "Small epiphysis of the proximal phalanx of the 5th finger": "HP:0009159", + "Small end part of the innermost bone of little finger": "HP:0009159", + "Small end part of the innermost bone of pinkie finger": "HP:0009159", + "Small end part of the innermost bone of pinky finger": "HP:0009159", + "Absent epiphysis of the proximal phalanx of the 5th finger": "HP:0009160", + "Absent end part of the innermost bone of little finger": "HP:0009160", + "Absent end part of the innermost bone of pinkie finger": "HP:0009160", + "Absent end part of the innermost bone of pinky finger": "HP:0009160", + "Aplasia/Hypoplasia of the middle phalanx of the 5th finger": "HP:0009161", + "Absent/hypoplastic middle phalanx of 5th finger": "HP:0009161", + "Absent/small middle bone of pinky finger": "HP:0009161", + "Absent/underdeveloped middle bone of little finger": "HP:0009161", + "Absent/underdeveloped middle bone of pinkie finger": "HP:0009161", + "Absent/underdeveloped middle bone of pinky finger": "HP:0009161", + "Absent middle phalanx of 5th finger": "HP:0009162", + "Absent middle bone of little finger": "HP:0009162", + "Absent middle bone of pinkie finger": "HP:0009162", + "Absent middle bone of pinky finger": "HP:0009162", + "Aplasia of the middle phalanx of the 5th finger": "HP:0009162", + "obsolete Abnormal form of the 5th finger": "HP:0009163", + "Abnormal calcification of the carpal bones": "HP:0009164", + "Abnormal calcification of the wrist bones": "HP:0009164", + "Carpal calcifications": "HP:0009164", + "Stippling of the epiphysis of the distal phalanx of the 5th finger": "HP:0009165", + "Speckled calcifications in end part of the outermost bone of little finger": "HP:0009165", + "Speckled calcifications in end part of the outermost bone of pinkie finger": "HP:0009165", + "Speckled calcifications in end part of the outermost bone of pinky finger": "HP:0009165", + "Fragmentation of the epiphysis of the distal phalanx of the 5th finger": "HP:0009166", + "Fragmentation of end part of the outermost bone of little finger": "HP:0009166", + "Fragmentation of end part of the outermost bone of pinkie finger": "HP:0009166", + "Fragmentation of end part of the outermost bone of pinky finger": "HP:0009166", + "Irregular epiphysis of the distal phalanx of the 5th finger": "HP:0009167", + "Irregular end part of the outermost bone of little finger": "HP:0009167", + "Irregular end part of the outermost bone of pinkie finger": "HP:0009167", + "Irregular end part of the outermost bone of pinky finger": "HP:0009167", + "Bullet-shaped middle phalanx of the 5th finger": "HP:0009168", + "Bullet-shaped middle little finger bone": "HP:0009168", + "Bullet-shaped middle pinkie finger bone": "HP:0009168", + "Bullet-shaped middle pinky finger bone": "HP:0009168", + "Broad middle phalanx of the 5th finger": "HP:0009169", + "Broad middle bone of little finger": "HP:0009169", + "Broad middle bone of pinkie finger": "HP:0009169", + "Broad middle bone of pinky finger": "HP:0009169", + "Wide middle phalanx of the 5th finger": "HP:0009169", + "Osteolytic defects of the middle phalanx of the 5th finger": "HP:0009170", + "Triangular epiphyses of the metacarpals": "HP:0009171", + "Triangular end part of the long bone of hand": "HP:0009171", + "Abnormal 4th finger phalanx morphology": "HP:0009172", + "Abnormal bones of 4th finger": "HP:0009172", + "Abnormality of the phalanges of the ring finger": "HP:0009172", + "Curved middle phalanx of the 5th finger": "HP:0009173", + "Curved middle bone of little finger": "HP:0009173", + "Curved middle bone of pinkie finger": "HP:0009173", + "Curved middle bone of pinky finger": "HP:0009173", + "Abnormality of the epiphyses of the 4th finger": "HP:0009174", + "Abnormality of the end part of the ring finger": "HP:0009174", + "Patchy sclerosis of the middle phalanx of the 5th finger": "HP:0009175", + "Uneven increase in bone density in the middle bone of the little finger": "HP:0009175", + "Uneven increase in bone density in the middle bone of the pinkie finger": "HP:0009175", + "Uneven increase in bone density in the middle bone of the pinky finger": "HP:0009175", + "Proximal/middle symphalangism of 5th finger": "HP:0009177", + "Fused innermost and middle bones of little finger": "HP:0009177", + "Fused innermost and middle bones of pinkie finger": "HP:0009177", + "Fused innermost and middle bones of pinky finger": "HP:0009177", + "Proximal 5th finger symphalangism": "HP:0009177", + "Proximal fifth finger symphalangism": "HP:0009177", + "Symphalangism of the proximal and middle phalanges of the 5th finger": "HP:0009177", + "Symphalangism of middle phalanx of 5th finger": "HP:0009178", + "Fused middle bones of little finger": "HP:0009178", + "Fused middle bones of pinkie finger": "HP:0009178", + "Fused middle bones of pinky finger": "HP:0009178", + "Deviation of the 5th finger": "HP:0009179", + "Displaced little finger": "HP:0009179", + "Displaced pinkie finger": "HP:0009179", + "Displaced pinky finger": "HP:0009179", + "Laterally displaced fifth finger": "HP:0009179", + "Ulnar deviation of the 5th finger": "HP:0009180", + "Triangular shaped middle phalanx of the 5th finger": "HP:0009182", + "Triangular shaped middle little finger bone": "HP:0009182", + "Triangular shaped middle pinkie finger bone": "HP:0009182", + "Triangular shaped middle pinky finger bone": "HP:0009182", + "Joint contracture of the 5th finger": "HP:0009183", + "5th finger camptodactyly": "HP:0009183", + "Fifth finger camptodactyly": "HP:0009183", + "Contracture of the distal interphalangeal joint of the 5th finger": "HP:0009184", + "Contracture of the proximal interphalangeal joint of the 5th finger": "HP:0009185", + "Camptodactyly of 5th finger": "HP:0009185", + "Camptodactyly of the fifth finger": "HP:0009185", + "Contracture of the metacarpophalangeal joint of the 5th finger": "HP:0009186", + "Bracket epiphysis of the distal phalanx of the 5th finger": "HP:0009187", + "Bracket shaped end part of the outermost little finger bone": "HP:0009187", + "Bracket shaped end part of the outermost pinkie finger bone": "HP:0009187", + "Bracket shaped end part of the outermost pinky finger bone": "HP:0009187", + "Pseudoepiphysis of the distal phalanx of the 5th finger": "HP:0009188", + "Fragmentation of the metacarpal epiphyses": "HP:0009189", + "Fragmentation of end part of the long bone of hand": "HP:0009189", + "Irregular epiphyses of the metacarpals": "HP:0009190", + "Irregular end part of the long bone of hand": "HP:0009190", + "Ivory epiphyses of the metacarpals": "HP:0009191", + "Increased bone density of end part of the long bone of hands": "HP:0009191", + "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger": "HP:0009192", + "Absent/small innermost little finger bone": "HP:0009192", + "Absent/small innermost pinkie finger bone": "HP:0009192", + "Absent/small innermost pinky finger bone": "HP:0009192", + "Absent/underdeveloped innermost pinky finger bone": "HP:0009192", + "Metacarpal pseudoepiphysis": "HP:0009193", + "Accessory proximal metacarpal ossification centers": "HP:0009193", + "Accessory proximal metacarpal ossification centres": "HP:0009193", + "Metacarpal pseudoepiphyses": "HP:0009193", + "Pseudoepiphyses of the metacarpals": "HP:0009193", + "Small epiphyses of the metacarpals": "HP:0009194", + "Small end part of the long bone of hand": "HP:0009194", + "Epiphyseal stippling of the metacarpals": "HP:0009195", + "Speckled calcifications in end part of the long bone of hand": "HP:0009195", + "Stippling of the epiphyses of the metacarpals": "HP:0009195", + "Absent metacarpal epiphyses": "HP:0009196", + "Absent end part of the long bone of hand": "HP:0009196", + "Absent metacarpal ossification center": "HP:0009196", + "Absent metacarpal ossification centre": "HP:0009196", + "Bracket epiphysis of the proximal phalanx of the 5th finger": "HP:0009197", + "Bracket shaped end part of the innermost bone of the little finger": "HP:0009197", + "Bracket shaped end part of the innermost bone of the pinkie finger": "HP:0009197", + "Bracket shaped end part of the innermost bone of the pinky finger": "HP:0009197", + "Abnormality of the epiphysis of the distal phalanx of the 5th finger": "HP:0009198", + "Abnormality of end part of the outermost bone of the little finger": "HP:0009198", + "Abnormality of end part of the outermost bone of the pinkie finger": "HP:0009198", + "Abnormality of end part of the outermost bone of the pinky finger": "HP:0009198", + "Abnormality of the epiphysis of the terminal phalanx of the little finger": "HP:0009198", + "Irregular epiphysis of the proximal phalanx of the 5th finger": "HP:0009199", + "Irregular end part of the innermost little finger bone": "HP:0009199", + "Irregular end part of the innermost pinkie finger bone": "HP:0009199", + "Irregular end part of the innermost pinky finger bone": "HP:0009199", + "Pseudoepiphysis of the proximal phalanx of the 5th finger": "HP:0009200", + "Stippling of the epiphysis of the proximal phalanx of the 5th finger": "HP:0009201", + "Speckled calcifications in end part of the innnermost bone of the little finger": "HP:0009201", + "Speckled calcifications in end part of the innnermost bone of the pinkie finger": "HP:0009201", + "Speckled calcifications in end part of the innnermost bone of the pinky finger": "HP:0009201", + "Fragmentation of the epiphysis of the proximal phalanx of the 5th finger": "HP:0009202", + "Fragmentation of end part of the innermost bone of the little finger": "HP:0009202", + "Fragmentation of end part of the innermost bone of the pinkie finger": "HP:0009202", + "Fragmentation of end part of the innermost bone of the pinky finger": "HP:0009202", + "Absent epiphysis of the middle phalanx of the 5th finger": "HP:0009203", + "Absent end part of the middle bone of the little finger": "HP:0009203", + "Absent end part of the middle bone of the pinkie finger": "HP:0009203", + "Absent end part of the middle bone of the pinky finger": "HP:0009203", + "Bracket epiphysis of the middle phalanx of the 5th finger": "HP:0009204", + "Bracket shaped end part of the middle bone of the little finger": "HP:0009204", + "Bracket shaped end part of the middle bone of the pinkie finger": "HP:0009204", + "Bracket shaped end part of the middle bone of the pinky finger": "HP:0009204", + "Cone-shaped epiphysis of the middle phalanx of the 5th finger": "HP:0009205", + "Cone-shaped end part of the middle bone of the little finger": "HP:0009205", + "Cone-shaped end part of the middle bone of the pinkie finger": "HP:0009205", + "Cone-shaped end part of the middle bone of the pinky finger": "HP:0009205", + "Enlarged epiphysis of the middle phalanx of the 5th finger": "HP:0009206", + "Enlarged end part of the middle bone of the little finger": "HP:0009206", + "Enlarged end part of the middle bone of the pinkie finger": "HP:0009206", + "Enlarged end part of the middle bone of the pinky finger": "HP:0009206", + "Fragmentation of the epiphysis of the middle phalanx of the 5th finger": "HP:0009207", + "Fragmentation of end part of the middle bone of the little finger": "HP:0009207", + "Fragmentation of end part of the middle bone of the pinkie finger": "HP:0009207", + "Fragmentation of end part of the middle bone of the pinky finger": "HP:0009207", + "Irregular epiphysis of the middle phalanx of the 5th finger": "HP:0009208", + "Irregular end part of the middle bone of the little finger": "HP:0009208", + "Irregular end part of the middle bone of the pinkie finger": "HP:0009208", + "Irregular end part of the middle bone of the pinky finger": "HP:0009208", + "Ivory epiphysis of the middle phalanx of the 5th finger": "HP:0009209", + "Increased bone density of end part of the middle bone of little finger": "HP:0009209", + "Increased bone density of end part of the middle bone of pinkie finger": "HP:0009209", + "Increased bone density of end part of the middle bone of pinky finger": "HP:0009209", + "Pseudoepiphysis of the middle phalanx of the 5th finger": "HP:0009210", + "Small epiphysis of the middle phalanx of the 5th finger": "HP:0009211", + "Small end part of the middle bone of the little finger": "HP:0009211", + "Small end part of the middle bone of the pinkie finger": "HP:0009211", + "Small end part of the middle bone of the pinky finger": "HP:0009211", + "Stippling of the epiphysis of the middle phalanx of the 5th finger": "HP:0009212", + "Speckled calcifications in end part of the middle bone of the little finger": "HP:0009212", + "Speckled calcifications in end part of the middle bone of the pinkie finger": "HP:0009212", + "Speckled calcifications in end part of the middle bone of the pinky finger": "HP:0009212", + "Triangular epiphysis of the middle phalanx of the 5th finger": "HP:0009213", + "Delta-shaped epiphysis of the middle phalanx of the 5th finger": "HP:0009213", + "Triangular end part of the middle bone of the little finger": "HP:0009213", + "Triangular end part of the middle bone of the pinkie finger": "HP:0009213", + "Triangular end part of the middle bone of the pinky finger": "HP:0009213", + "Absent epiphysis of the middle phalanx of the 4th finger": "HP:0009214", + "Absent end part of the middle bone of the ring finger": "HP:0009214", + "Bracket epiphysis of the middle phalanx of the 4th finger": "HP:0009215", + "Bracket shaped end part of the middle bone of the ring finger": "HP:0009215", + "Cone-shaped epiphysis of the middle phalanx of the 4th finger": "HP:0009216", + "Cone-shaped end part of the middle bone of the ring finger": "HP:0009216", + "Enlarged epiphysis of the middle phalanx of the 4th finger": "HP:0009217", + "Enlarged end part of the middle bone of the ring finger": "HP:0009217", + "Fragmentation of the epiphysis of the middle phalanx of the 4th finger": "HP:0009218", + "Fragmentation of end part of the middle bone of the ring finger": "HP:0009218", + "Irregular epiphysis of the middle phalanx of the 4th finger": "HP:0009219", + "Irregular end part of the middle bone of the ring finger": "HP:0009219", + "Ivory epiphysis of the middle phalanx of the 4th finger": "HP:0009220", + "Increased bone density of end part of the middle ring finger bone": "HP:0009220", + "Pseudoepiphysis of the middle phalanx of the 4th finger": "HP:0009221", + "Small epiphysis of the middle phalanx of the 4th finger": "HP:0009222", + "Small end part of the middle bone of the ring finger": "HP:0009222", + "Stippling of the epiphysis of the middle phalanx of the 4th finger": "HP:0009223", + "Speckled calcifications in end part of the middle bone of the ring finger": "HP:0009223", + "Triangular epiphysis of the middle phalanx of the 4th finger": "HP:0009224", + "Delta-shaped epiphysis of the middle phalanx of the 4th finger": "HP:0009224", + "Triangular end part of the middle bone of the ring finger": "HP:0009224", + "Aplasia of the proximal phalanx of the 5th finger": "HP:0009225", + "Absent innermost bone of little finger": "HP:0009225", + "Absent innermost bone of pinkie finger": "HP:0009225", + "Absent innermost bone of pinky finger": "HP:0009225", + "Short proximal phalanx of the 5th finger": "HP:0009226", + "Hypoplastic/small proximal phalanx of the 5th finger": "HP:0009226", + "Short innermost little finger bone": "HP:0009226", + "Short innermost pinkie finger bone": "HP:0009226", + "Short innermost pinky finger bone": "HP:0009226", + "Short proximal phalanx of the fifth finger": "HP:0009226", + "Broad proximal phalanx of the 5th finger": "HP:0009227", + "Broad innermost little finger bone": "HP:0009227", + "Broad innermost pinkie finger bone": "HP:0009227", + "Broad innermost pinky finger bone": "HP:0009227", + "Wide proximal phalanx of the 5th finger": "HP:0009227", + "Bullet-shaped proximal phalanx of the 5th finger": "HP:0009228", + "Bullet-shaped innermost little finger bone": "HP:0009228", + "Bullet-shaped innermost pinkie finger bone": "HP:0009228", + "Bullet-shaped innermost pinky finger bone": "HP:0009228", + "Curved proximal phalanx of the 5th finger": "HP:0009229", + "Curved innermost bone of little finger": "HP:0009229", + "Curved innermost bone of pinkie finger": "HP:0009229", + "Curved innermost bone of pinky finger": "HP:0009229", + "Osteolytic defects of the proximal phalanx of the 5th finger": "HP:0009230", + "Patchy sclerosis of the proximal phalanx of the 5th finger": "HP:0009231", + "Uneven increase in bone density in the innermost bone of little finger": "HP:0009231", + "Uneven increase in bone density in the innermost bone of pinkie finger": "HP:0009231", + "Uneven increase in bone density in the innermost bone of pinky finger": "HP:0009231", + "Symphalangism affecting the proximal phalanx of the 5th finger": "HP:0009232", + "Fused innermost bone of little finger": "HP:0009232", + "Fused innermost bone of pinkie finger": "HP:0009232", + "Fused innermost bone of pinky finger": "HP:0009232", + "Triangular shaped proximal phalanx of the 5th finger": "HP:0009233", + "Triangular shaped innermost little finger bone": "HP:0009233", + "Triangular shaped innermost pinkie finger bone": "HP:0009233", + "Triangular shaped innermost pinky finger bone": "HP:0009233", + "Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal": "HP:0009234", + "Fused innermost bone of little finger with 5th long bone of hand": "HP:0009234", + "Fused innermost bone of pinkie finger with 5th long bone of hand": "HP:0009234", + "Fused innermost bone of pinky finger with 5th long bone of hand": "HP:0009234", + "Rhomboid or triangular shaped 5th finger proximal phalanx": "HP:0009236", + "Rhomboid or triangular shaped innermost bone of little finger": "HP:0009236", + "Rhomboid or triangular shaped innermost bone of pinkie finger": "HP:0009236", + "Rhomboid or triangular shaped innermost bone of pinky finger": "HP:0009236", + "Short 5th finger": "HP:0009237", + "Fifth finger brachydactyly": "HP:0009237", + "Hypoplastic phalanges of the little finger": "HP:0009237", + "Hypoplastic/small 5th finger": "HP:0009237", + "Hypoplastic/small little finger": "HP:0009237", + "Short fifth finger": "HP:0009237", + "Short fifth fingers": "HP:0009237", + "Short little finger": "HP:0009237", + "Short phalanges of the little finger": "HP:0009237", + "Short pinkie finger": "HP:0009237", + "Short pinky finger": "HP:0009237", + "Aplasia of the 5th finger": "HP:0009238", + "Absent little finger": "HP:0009238", + "Absent pinkie finger": "HP:0009238", + "Absent pinky finger": "HP:0009238", + "Aplasia/Hypoplasia of the distal phalanx of the 5th finger": "HP:0009239", + "Absent/small outermost bone of little finger": "HP:0009239", + "Absent/small outermost bone of pinkie finger": "HP:0009239", + "Absent/small outermost bone of pinky finger": "HP:0009239", + "Absent/underdeveloped outermost bone of pinky finger": "HP:0009239", + "Broad distal phalanx of the 5th finger": "HP:0009240", + "Broad outermost little finger bone": "HP:0009240", + "Broad outermost pinkie finger bone": "HP:0009240", + "Broad outermost pinky finger bone": "HP:0009240", + "Wide outermost pinky finger bone": "HP:0009240", + "Bullet-shaped distal phalanx of the 5th finger": "HP:0009241", + "Bullet-shaped outermost little finger bone": "HP:0009241", + "Bullet-shaped outermost pinkie finger bone": "HP:0009241", + "Bullet-shaped outermost pinky finger bone": "HP:0009241", + "Osteolytic defects of the distal phalanx of the 5th finger": "HP:0009242", + "Patchy sclerosis of the distal phalanx of the 5th finger": "HP:0009243", + "Uneven increase in bone density in the outermost bone of little finger": "HP:0009243", + "Uneven increase in bone density in the outermost bone of pinkie finger": "HP:0009243", + "Uneven increase in bone density in the outermost bone of pinky finger": "HP:0009243", + "Distal/middle symphalangism of 5th finger": "HP:0009244", + "Fifth finger distal interphalangeal joint symphalangism": "HP:0009244", + "Fused end and middle bones of little finger": "HP:0009244", + "Fused end and middle bones of pinkie finger": "HP:0009244", + "Fused end and middle bones of pinky finger": "HP:0009244", + "Symphalangism of the distal and middle phalanges of the 5th finger": "HP:0009244", + "Symphalangism of the terminal and middle phalanges of the 5th finger": "HP:0009244", + "Fusion of the terminal and middle phalanges of the 5th finger": "HP:0009244", + "Triangular shaped distal phalanx of the 5th finger": "HP:0009245", + "Triangular shaped outermost little finger bone": "HP:0009245", + "Triangular shaped outermost pinkie finger bone": "HP:0009245", + "Triangular shaped outermost pinky finger bone": "HP:0009245", + "Aplasia of the distal phalanx of the 5th finger": "HP:0009246", + "Absent outermost little finger bone": "HP:0009246", + "Absent outermost pinkie finger bone": "HP:0009246", + "Absent outermost pinky finger bone": "HP:0009246", + "Abnormality of the epiphysis of the middle phalanx of the 4th finger": "HP:0009247", + "Abnormality of the end part of the middle bone of the ring finger": "HP:0009247", + "Abnormality of the epiphysis of the proximal phalanx of the 4th finger": "HP:0009248", + "Abnormality of the end part of the innermost bone of the ring finger": "HP:0009248", + "Abnormality of the epiphysis of the distal phalanx of the 4th finger": "HP:0009249", + "Abnormality of the end part of the outermost bone of the ring finger": "HP:0009249", + "Absent epiphysis of the distal phalanx of the 4th finger": "HP:0009250", + "Absent end part of the outermost bone of the ring finger": "HP:0009250", + "Bracket epiphysis of the distal phalanx of the 4th finger": "HP:0009251", + "Bracket shaped end part of the outermost bone of the ring finger": "HP:0009251", + "Cone-shaped epiphysis of the distal phalanx of the 4th finger": "HP:0009252", + "Cone-shaped end part of the outermost bone of the ring finger": "HP:0009252", + "Enlarged epiphysis of the distal phalanx of the 4th finger": "HP:0009253", + "Enlarged end part of the outermost bone of the ring finger": "HP:0009253", + "Fragmentation of the epiphysis of the distal phalanx of the 4th finger": "HP:0009254", + "Fragmentation of end part of the outermost bone of the ring finger": "HP:0009254", + "Irregular epiphysis of the distal phalanx of the 4th finger": "HP:0009255", + "Irregular end part of the outermost bone of the ring finger": "HP:0009255", + "Ivory epiphysis of the distal phalanx of the 4th finger": "HP:0009256", + "Increased bone density of end part of the outermost ring finger bone": "HP:0009256", + "Pseudoepiphysis of the distal phalanx of the 4th finger": "HP:0009257", + "Small epiphysis of the distal phalanx of the 4th finger": "HP:0009258", + "Small end part of the outermost bone of the ring finger": "HP:0009258", + "Stippling of the epiphysis of the distal phalanx of the 4th finger": "HP:0009259", + "Speckled calcifications in the end part of the outermost bone of the ring finger": "HP:0009259", + "Triangular epiphysis of the distal phalanx of the 4th finger": "HP:0009260", + "Delta-shaped epiphysis of the distal phalanx of the 4th finger": "HP:0009260", + "Triangular end part of the outermost bone of ring finger": "HP:0009260", + "Absent epiphysis of the proximal phalanx of the 4th finger": "HP:0009261", + "Absent end part of the innermost bone of the ring finger": "HP:0009261", + "Bracket epiphysis of the proximal phalanx of the 4th finger": "HP:0009262", + "Bracket proximal epiphysis of the ring finger": "HP:0009262", + "Bracket shaped end part of the innermost bone of the ring finger": "HP:0009262", + "Cone-shaped epiphysis of the proximal phalanx of the 4th finger": "HP:0009263", + "Cone-shaped end part of the innermost bone of the ring finger": "HP:0009263", + "Enlarged epiphysis of the proximal phalanx of the 4th finger": "HP:0009264", + "Enlarged end part of the innermost bone of the ring finger": "HP:0009264", + "Fragmentation of the epiphysis of the proximal phalanx of the 4th finger": "HP:0009265", + "Fragmentation of end part of the innermost bone of the ring finger": "HP:0009265", + "Irregular epiphysis of the proximal phalanx of the 4th finger": "HP:0009266", + "Irregular end part of the innermost bone of the ring finger": "HP:0009266", + "Ivory epiphysis of the proximal phalanx of the 4th finger": "HP:0009267", + "Increased bone density of end part of the innermost ring finger bone": "HP:0009267", + "Pseudoepiphysis of the proximal phalanx of the 4th finger": "HP:0009268", + "Small epiphysis of the proximal phalanx of the 4th finger": "HP:0009269", + "Small end part of the innermost bone of the ring finger": "HP:0009269", + "Stippling of the epiphysis of the proximal phalanx of the 4th finger": "HP:0009270", + "Speckled calcifications in end part of the innermost bone of ring finger": "HP:0009270", + "Triangular epiphysis of the proximal phalanx of the 4th finger": "HP:0009271", + "Delta-shaped epiphysis of the proximal phalanx of the 4th finger": "HP:0009271", + "Triangular end part of the innermost bone of ring finger": "HP:0009271", + "Aplasia/Hypoplasia of the 4th finger": "HP:0009272", + "Absent/small ring finger bone": "HP:0009272", + "Absent/underdeveloped ring finger bone": "HP:0009272", + "Deviation of the 4th finger": "HP:0009273", + "Deviation of the ring finger": "HP:0009273", + "Joint contracture of the 4th finger": "HP:0009274", + "Joint contractures of the fourth finger": "HP:0009274", + "Contracture of the distal interphalangeal joint of the 4th finger": "HP:0009275", + "Contracture of the proximal interphalangeal joint of the 4th finger": "HP:0009276", + "4th finger camptodactyly": "HP:0009276", + "Camptodactyly of the 4th finger": "HP:0009276", + "Camptodactyly of the ring finger": "HP:0009276", + "Contracture of the metacarpophalangeal joint of the 4th finger": "HP:0009277", + "Ulnar deviation of the 4th finger": "HP:0009278", + "Ulnar deviation of the ring finger": "HP:0009278", + "Radial deviation of the 4th finger": "HP:0009279", + "Radial deviation of the ring finger": "HP:0009279", + "Short 4th finger": "HP:0009280", + "Hypoplastic/small 4th finger": "HP:0009280", + "Short ring finger": "HP:0009280", + "Aplasia of the 4th finger": "HP:0009281", + "Absent ring finger": "HP:0009281", + "Abnormality of the distal phalanx of the 4th finger": "HP:0009282", + "Abnormality of the outermost bone of ring finger": "HP:0009282", + "Abnormality of the middle phalanx of the 4th finger": "HP:0009283", + "Abnormal middle bone of ring finger": "HP:0009283", + "Abnormality of the middle phalanx of the ring finger": "HP:0009283", + "Abnormality of the proximal phalanx of the 4th finger": "HP:0009284", + "Abnormal innermost bone of ring finger": "HP:0009284", + "Abnormality of the proximal phalanx of the ring finger": "HP:0009284", + "Curved phalanges of the 4th finger": "HP:0009285", + "Curved ring finger bone": "HP:0009285", + "Curved distal phalanx of the 4th finger": "HP:0009286", + "Curved outermost ring finger bone": "HP:0009286", + "Curved middle phalanx of the 4th finger": "HP:0009287", + "Curved middle ring finger bone": "HP:0009287", + "Curved proximal phalanx of the 4th finger": "HP:0009288", + "Curved innermost ring finger bone": "HP:0009288", + "Aplasia/Hypoplasia of the distal phalanx of the 4th finger": "HP:0009289", + "Absent/small outermost ring finger bone": "HP:0009289", + "Absent/underdeveloped outermost ring finger bone": "HP:0009289", + "Short distal phalanx of the 4th finger": "HP:0009290", + "Hypoplastic/small distal phalanx of the 4th finger": "HP:0009290", + "Short distal phalanx of the fourth finger": "HP:0009290", + "Short outermost bone of ring finger": "HP:0009290", + "Aplasia of the distal phalanx of the 4th finger": "HP:0009291", + "Absent outermost bone of ring finger": "HP:0009291", + "Broad distal phalanx of the 4th finger": "HP:0009292", + "Broad outermost bone of ring finger": "HP:0009292", + "Wide outermost bone of ring finger": "HP:0009292", + "Broad middle phalanx of the 4th finger": "HP:0009293", + "Broad middle bone of the 4th finger": "HP:0009293", + "Absent middle phalanx of 4th finger": "HP:0009294", + "Absent middle bone of 4th finger": "HP:0009294", + "Aplasia of the middle phalanx of the 4th finger": "HP:0009294", + "Short middle phalanx of the 4th finger": "HP:0009295", + "Brachymesophalangy IV (finger)": "HP:0009295", + "Hypoplastic/small middle phalanx of ring finger": "HP:0009295", + "Hypoplastic/small middle phalanx of the 4th finger": "HP:0009295", + "Short middle bone of 4th finger": "HP:0009295", + "Short middle phalanx of ring finger": "HP:0009295", + "Bullet-shaped middle phalanx of the 4th finger": "HP:0009296", + "Bullet-shaped middle bone of the 4th finger": "HP:0009296", + "Osteolytic defects of the middle phalanx of the 4th finger": "HP:0009297", + "Aplasia of the proximal phalanx of the 4th finger": "HP:0009298", + "Absent innermost ring finger bone": "HP:0009298", + "Aplasia/Hypoplasia of the middle phalanx of the 4th finger": "HP:0009299", + "Absent/small middle ring finger bone": "HP:0009299", + "Absent/underdeveloped middle ring finger bone": "HP:0009299", + "Aplasia/Hypoplasia of the proximal phalanx of the 4th finger": "HP:0009300", + "Absent/small innermost ring finger bone": "HP:0009300", + "Absent/underdeveloped innermost ring finger bone": "HP:0009300", + "Short proximal phalanx of the 4th finger": "HP:0009301", + "Hypoplastic/small proximal phalanx of the 4th finger": "HP:0009301", + "Short innermost bone of the ring finger": "HP:0009301", + "Short proximal phalanx of the fourth finger": "HP:0009301", + "Bullet-shaped distal phalanx of the 4th finger": "HP:0009302", + "Bullet-shaped outermost bone of ring finger": "HP:0009302", + "Osteolytic defects of the distal phalanx of the 4th finger": "HP:0009303", + "Patchy sclerosis of the distal phalanx of the 4th finger": "HP:0009304", + "Uneven increase in bone density in the outermost bone of the ring finger": "HP:0009304", + "Distal/middle symphalangism of 4th finger": "HP:0009305", + "Fused outermost and middle bones of ring finger": "HP:0009305", + "Symphalangism of the distal and middle phalanges of the 4th finger": "HP:0009305", + "Triangular shaped distal phalanx of the 4th finger": "HP:0009306", + "Triangular shaped outermost bone of the ring finger": "HP:0009306", + "Patchy sclerosis of the middle phalanx of the 4th finger": "HP:0009307", + "Uneven increase in bone density in the middle bone of the ring finger": "HP:0009307", + "Symphalangism of middle phalanx of 4th finger": "HP:0009308", + "Fused middle bone of ring finger": "HP:0009308", + "Triangular shaped middle phalanx of the 4th finger": "HP:0009309", + "Triangular shaped middle bone of the ring finger": "HP:0009309", + "Broad proximal phalanx of the 4th finger": "HP:0009310", + "Broad innermost ring finger bone": "HP:0009310", + "Bullet-shaped proximal phalanx of the 4th finger": "HP:0009311", + "Bullet-shaped innermost ring finger bone": "HP:0009311", + "Osteolytic defects of the proximal phalanx of the 4th finger": "HP:0009312", + "Patchy sclerosis of the proximal phalanx of the 4th finger": "HP:0009313", + "Uneven increase in bone density in the innermost bone of the ring finger": "HP:0009313", + "Symphalangism affecting the proximal phalanx of the 4th finger": "HP:0009314", + "Fused innermost bone of ring finger": "HP:0009314", + "Triangular shaped proximal phalanx of the 4th finger": "HP:0009315", + "Triangular shaped innermost bone of the 4th finger": "HP:0009315", + "Triangular shaped innermost bone of the ring finger": "HP:0009315", + "Abnormal 3rd finger phalanx morphology": "HP:0009316", + "Abnormality of 3rd finger phalanges": "HP:0009316", + "Abnormality of middle finger phalanges": "HP:0009316", + "Abnormality of the middle finger bones": "HP:0009316", + "Abnormality of the phalanges of the 3rd finger": "HP:0009316", + "Deviation of the 3rd finger": "HP:0009317", + "Deviated middle finger": "HP:0009317", + "Aplasia/Hypoplasia of the 3rd finger": "HP:0009318", + "Absent/small middle finger": "HP:0009318", + "Absent/underdeveloped middle finger": "HP:0009318", + "Joint contracture of the 3rd finger": "HP:0009319", + "Camptodactyly of middle finger": "HP:0009319", + "Abnormality of the epiphyses of the 3rd finger": "HP:0009320", + "Abnormality of end part of the middle bone of the middle finger": "HP:0009320", + "Absent epiphysis of the middle phalanx of the 3rd finger": "HP:0009321", + "Absent end part of the middle bone of the middle finger": "HP:0009321", + "Bracket epiphysis of the middle phalanx of the 3rd finger": "HP:0009322", + "Bracket shaped end part of the middle bone of the middle finger": "HP:0009322", + "Cone-shaped epiphysis of the middle phalanx of the 3rd finger": "HP:0009323", + "Cone-shaped end part of the middle bone of the middle finger": "HP:0009323", + "Enlarged epiphysis of the middle phalanx of the 3rd finger": "HP:0009324", + "Enlarged end part of the middle bone of the middle finger": "HP:0009324", + "Fragmentation of the epiphysis of the middle phalanx of the 3rd finger": "HP:0009325", + "Fragmentation of end part of the middle bone of the middle finger": "HP:0009325", + "Irregular epiphysis of the middle phalanx of the 3rd finger": "HP:0009326", + "Irregular end part of the middle bone of the middle finger": "HP:0009326", + "Ivory epiphysis of the middle phalanx of the 3rd finger": "HP:0009327", + "Increased bone density of end part of the middle bone of the middle finger": "HP:0009327", + "Pseudoepiphysis of the middle phalanx of the 3rd finger": "HP:0009328", + "Pseudoepiphyses of middle phalanx of middle-finger": "HP:0009328", + "Small epiphysis of the middle phalanx of the 3rd finger": "HP:0009329", + "Small end part of the middle bone of the middle finger": "HP:0009329", + "Stippling of the epiphysis of the middle phalanx of the 3rd finger": "HP:0009330", + "Speckled calcifications in end part of the middle bone of the middle finger": "HP:0009330", + "Triangular epiphysis of the middle phalanx of the 3rd finger": "HP:0009331", + "Delta-shaped epiphysis of the middle phalanx of the 3rd finger": "HP:0009331", + "Triangular end part of the middle bone of the middle finger": "HP:0009331", + "Abnormality of the epiphysis of the distal phalanx of the 3rd finger": "HP:0009332", + "Abnormality of the end part of the outermost bone of the middle finger": "HP:0009332", + "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger": "HP:0009333", + "Abnormality of the end part of the innermost bone of the middle finger": "HP:0009333", + "Abnormality of the epiphysis of the middle phalanx of the 3rd finger": "HP:0009334", + "Abnormality of the middle part of the middle bone of the middle finger": "HP:0009334", + "Absent epiphysis of the distal phalanx of the 3rd finger": "HP:0009335", + "Absent end part of the outermost bone of the middle finger": "HP:0009335", + "Bracket epiphysis of the distal phalanx of the 3rd finger": "HP:0009336", + "Bracket shaped end part of the outermost bone of the middle finger": "HP:0009336", + "Cone-shaped epiphysis of the distal phalanx of the 3rd finger": "HP:0009337", + "Cone-shaped end part of the outermost bone of the middle finger": "HP:0009337", + "Enlarged epiphysis of the distal phalanx of the 3rd finger": "HP:0009338", + "Enlarged end part of the outermost bone of the 3rd finger": "HP:0009338", + "Fragmentation of the epiphysis of the distal phalanx of the 3rd finger": "HP:0009339", + "Fragmentation of end part of the outermost bone of the middle finger": "HP:0009339", + "Irregular epiphysis of the distal phalanx of the 3rd finger": "HP:0009340", + "Irregular end part of the outermost long bone of the middle finger": "HP:0009340", + "Ivory epiphysis of the distal phalanx of the 3rd finger": "HP:0009341", + "Increased bone density of end part of the outermost middle finger bone": "HP:0009341", + "Pseudoepiphysis of the distal phalanx of the 3rd finger": "HP:0009342", + "Pseudoepiphysis of the outermost bone of the middle finger": "HP:0009342", + "Small epiphysis of the distal phalanx of the 3rd finger": "HP:0009343", + "Small end part of the outermost long bone of the middle finger": "HP:0009343", + "Stippling of the epiphysis of the distal phalanx of the 3rd finger": "HP:0009344", + "Speckled calcifications in end part of the outermost long bone of the middle finger": "HP:0009344", + "Triangular epiphysis of the distal phalanx of the 3rd finger": "HP:0009345", + "Delta-shaped epiphysis of the distal phalanx of the 3rd finger": "HP:0009345", + "Triangular end part of the outermost long bone of the middle finger": "HP:0009345", + "Absent epiphysis of the proximal phalanx of the 3rd finger": "HP:0009346", + "Absent end part of innermost long bone of the middle finger": "HP:0009346", + "Bracket epiphysis of the proximal phalanx of the 3rd finger": "HP:0009347", + "Bracket shaped end part of innermost long bone of the middle finger": "HP:0009347", + "Cone-shaped epiphysis of the proximal phalanx of the 3rd finger": "HP:0009348", + "Cone-shaped end part of the innermost bone of the middle finger": "HP:0009348", + "Enlarged epiphysis of the proximal phalanx of the 3rd finger": "HP:0009349", + "Enlarged end part of innermost long bone of the middle finger": "HP:0009349", + "Large epiphysis of proximal middle-finger phalanx": "HP:0009349", + "Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger": "HP:0009350", + "Fragmentation of end part of innermost long bone of the middle finger": "HP:0009350", + "Irregular epiphysis of the proximal phalanx of the 3rd finger": "HP:0009351", + "Irregular end part of innermost long bone of the middle finger": "HP:0009351", + "Ivory epiphysis of the proximal phalanx of the 3rd finger": "HP:0009352", + "Increased bone density of end part of the innermost middle finger bone": "HP:0009352", + "Pseudoepiphysis of the proximal phalanx of the 3rd finger": "HP:0009353", + "Small epiphysis of the proximal phalanx of the 3rd finger": "HP:0009354", + "Small end part of innermost long bone of the middle finger": "HP:0009354", + "Stippling of the epiphysis of the proximal phalanx of the 3rd finger": "HP:0009355", + "Speckled calcifications in end part of innermost long bone of the middle finger": "HP:0009355", + "Triangular epiphysis of the proximal phalanx of the 3rd finger": "HP:0009356", + "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger": "HP:0009356", + "Triangular end part of innermost long bone of the middle finger": "HP:0009356", + "Abnormality of the distal phalanx of the 3rd finger": "HP:0009357", + "Abnormality of terminal phalanx of middle-finger": "HP:0009357", + "Abnormality of the outermost bone of the 3rd finger": "HP:0009357", + "Abnormality of the proximal phalanx of the 3rd finger": "HP:0009358", + "Abnormal innermost bone of middle finger": "HP:0009358", + "Abnormality of proximal middle-finger phalanx": "HP:0009358", + "Type A brachydactyly": "HP:0009370", + "Type A1 brachydactyly": "HP:0009371", + "Type A2 brachydactyly": "HP:0009372", + "Short index fingers and second toes": "HP:0009372", + "Type C brachydactyly": "HP:0009373", + "Broad phalanges of the 5th finger": "HP:0009374", + "Broad little finger bones": "HP:0009374", + "Broad pinkie finger bones": "HP:0009374", + "Broad pinky finger bones": "HP:0009374", + "Bullet-shaped phalanges of the 5th finger": "HP:0009375", + "Bullet-shaped little finger bones": "HP:0009375", + "Bullet-shaped pinkie finger bones": "HP:0009375", + "Bullet-shaped pinky finger bones": "HP:0009375", + "Aplasia/Hypoplasia of the phalanges of the 5th finger": "HP:0009376", + "Absent/small little finger bones": "HP:0009376", + "Absent/small pinkie finger bones": "HP:0009376", + "Absent/small pinky finger bones": "HP:0009376", + "Absent/underdeveloped pinky finger bones": "HP:0009376", + "Patchy sclerosis of 5th finger phalanx": "HP:0009377", + "Patchy sclerosis of the phalanges of the 5th finger": "HP:0009377", + "Uneven increase in bone density in little finger bone": "HP:0009377", + "Uneven increase in bone density in pinkie finger bone": "HP:0009377", + "Uneven increase in bone density in pinky finger bone": "HP:0009377", + "Triangular shaped phalanges of the 5th finger": "HP:0009378", + "Triangular shaped little finger bones": "HP:0009378", + "Triangular shaped pinkie finger bones": "HP:0009378", + "Triangular shaped pinky finger bones": "HP:0009378", + "Rhomboid or triangular shaped 5th finger distal phalanx": "HP:0009379", + "Rhomboid or triangular shaped little finger bone": "HP:0009379", + "Rhomboid or triangular shaped pinkie finger bone": "HP:0009379", + "Rhomboid or triangular shaped pinky finger bone": "HP:0009379", + "Finger aplasia": "HP:0009380", + "Absent fingers": "HP:0009380", + "Aplasia of the fingers": "HP:0009380", + "Hand has less than 5 fingers": "HP:0009380", + "Hand oligodactyly": "HP:0009380", + "Short finger": "HP:0009381", + "Hypoplastic digits": "HP:0009381", + "Hypoplastic fingers": "HP:0009381", + "Hypoplastic/small fingers": "HP:0009381", + "Stubby finger": "HP:0009381", + "Stubby fingers": "HP:0009381", + "Absent epiphyses of the 5th finger": "HP:0009382", + "Absent end part of little finger bone": "HP:0009382", + "Absent end part of pinkie finger bone": "HP:0009382", + "Absent end part of pinky finger bone": "HP:0009382", + "Bracket epiphyses of the 5th finger": "HP:0009383", + "Bracket shaped end part of little finger bone": "HP:0009383", + "Bracket shaped end part of pinkie finger bone": "HP:0009383", + "Bracket shaped end part of pinky finger bone": "HP:0009383", + "Cone-shaped epiphyses of the 5th finger": "HP:0009384", + "Cone-shaped end part of the little finger bones": "HP:0009384", + "Cone-shaped end part of the pinkie finger bones": "HP:0009384", + "Cone-shaped end part of the pinky finger bones": "HP:0009384", + "Enlarged epiphyses of the 5th finger": "HP:0009385", + "Enlarged end part of the little finger bones": "HP:0009385", + "Enlarged end part of the pinkie finger bones": "HP:0009385", + "Enlarged end part of the pinky finger bones": "HP:0009385", + "Fragmentation of the epiphyses of the 5th finger": "HP:0009386", + "Fragmentation of the end part of the little finger bones": "HP:0009386", + "Fragmentation of the end part of the pinkie finger bones": "HP:0009386", + "Fragmentation of the end part of the pinky finger bones": "HP:0009386", + "Irregular epiphyses of the 5th finger": "HP:0009387", + "Irregular end part of the little finger bones": "HP:0009387", + "Irregular end part of the pinkie finger bones": "HP:0009387", + "Irregular end part of the pinky finger bones": "HP:0009387", + "Ivory epiphyses of the 5th finger": "HP:0009388", + "Increased bone density of end part of the little finger": "HP:0009388", + "Increased bone density of end part of the pinkie finger": "HP:0009388", + "Increased bone density of end part of the pinky finger": "HP:0009388", + "Pseudoepiphyses of the 5th finger": "HP:0009389", + "Small epiphyses of the 5th finger": "HP:0009390", + "Small end part of little finger bone": "HP:0009390", + "Small end part of pinkie finger bone": "HP:0009390", + "Small end part of pinky finger bone": "HP:0009390", + "Stippling of the epiphyses of the 5th finger": "HP:0009391", + "Speckled calcifications in end part of little finger bone": "HP:0009391", + "Speckled calcifications in end part of pinkie finger bone": "HP:0009391", + "Speckled calcifications in end part of pinky finger bone": "HP:0009391", + "Triangular epiphyses of the 5th finger": "HP:0009392", + "Delta-shaped epiphyses of the 5th finger": "HP:0009392", + "Triangular end part of the little finger": "HP:0009392", + "Triangular end part of the pinkie finger": "HP:0009392", + "Triangular end part of the pinky finger": "HP:0009392", + "Absent epiphyses of the 4th finger": "HP:0009393", + "Absent end part of the ring finger bone": "HP:0009393", + "Bracket epiphyses of the 4th finger": "HP:0009394", + "Bracket shaped end part of ring finger bones": "HP:0009394", + "Cone-shaped epiphyses of the 4th finger": "HP:0009395", + "Cone-shaped end part of the ring finger bones": "HP:0009395", + "Enlarged epiphyses of the 4th finger": "HP:0009396", + "Enlarged end part of the ring finger bones": "HP:0009396", + "Fragmentation of the epiphyses of the 4th finger": "HP:0009397", + "Fragmentation of the end part of the ring finger bones": "HP:0009397", + "Irregular epiphyses of the 4th finger": "HP:0009398", + "Irregular end part of the ring finger bones": "HP:0009398", + "Ivory epiphyses of the 4th finger": "HP:0009399", + "Increased bone density of end part of the ring finger bone": "HP:0009399", + "Pseudoepiphyses of the 4th finger": "HP:0009400", + "Small epiphyses of the 4th finger": "HP:0009401", + "Small end part of ring finger bone": "HP:0009401", + "Stippling of the epiphyses of the 4th finger": "HP:0009402", + "Speckled calcifications in end part of ring finger bone": "HP:0009402", + "Triangular epiphyses of the 4th finger": "HP:0009403", + "Delta-shaped epiphyses of the 4th finger": "HP:0009403", + "Triangular end part of ring finger bone": "HP:0009403", + "Broad phalanges of the 4th finger": "HP:0009404", + "Broad bones of ring finger": "HP:0009404", + "Bullet-shaped phalanges of the 4th finger": "HP:0009405", + "Bullet-shaped of bone of ring finger": "HP:0009405", + "Patchy sclerosis of 4th finger phalanx": "HP:0009406", + "Patchy sclerosis of the phalanges of the 4th finger": "HP:0009406", + "Uneven increase in bone density in ring finger bone": "HP:0009406", + "Triangular shaped phalanges of the 4th finger": "HP:0009407", + "Triangular shaped bone of ring finger": "HP:0009407", + "Aplasia/Hypoplasia of the phalanges of the 4th finger": "HP:0009408", + "Absent/small ring finger bones": "HP:0009408", + "Absent/underdeveloped ring finger bones": "HP:0009408", + "Absent epiphyses of the 3rd finger": "HP:0009410", + "Absent end part of middle finger bone": "HP:0009410", + "Bracket epiphyses of the 3rd finger": "HP:0009411", + "Bracket shaped end part of middle finger bone": "HP:0009411", + "Cone-shaped epiphyses of the 3rd finger": "HP:0009412", + "Cone-shaped end part of middle finger bone": "HP:0009412", + "Enlarged epiphyses of the 3rd finger": "HP:0009413", + "Enlarged end part of middle finger bone": "HP:0009413", + "Fragmentation of the epiphyses of the 3rd finger": "HP:0009414", + "Fragmentation of end part of middle finger bone": "HP:0009414", + "Irregular epiphyses of the 3rd finger": "HP:0009415", + "Irregular end part of middle finger bone": "HP:0009415", + "Ivory epiphyses of the 3rd finger": "HP:0009416", + "Increased bone density of end part of the middle finger bone": "HP:0009416", + "Pseudoepiphyses of the 3rd finger": "HP:0009417", + "Pseudoepiphyses of middle finger phalanges": "HP:0009417", + "Small epiphyses of the 3rd finger": "HP:0009418", + "Small end part of middle finger bone": "HP:0009418", + "Stippling of the epiphyses of the 3rd finger": "HP:0009419", + "Speckled calcifications in end part of middle finger bone": "HP:0009419", + "Triangular epiphyses of the 3rd finger": "HP:0009420", + "Delta-shaped epiphyses of the 3rd finger": "HP:0009420", + "Triangular end part of middle finger bone": "HP:0009420", + "Aplasia/Hypoplasia of the distal phalanx of the 3rd finger": "HP:0009421", + "Absent/small outermost middle finger bone": "HP:0009421", + "Absent/underdeveloped outermost middle finger bone": "HP:0009421", + "Broad distal phalanx of the 3rd finger": "HP:0009422", + "Broad outermost bone of middle finger": "HP:0009422", + "Bullet-shaped distal phalanx of the 3rd finger": "HP:0009423", + "Bullet-shaped outermost bone of the middle finger": "HP:0009423", + "Osteolytic defects of the distal phalanx of the 3rd finger": "HP:0009424", + "Lytic defect of terminal phalanx of middle finger": "HP:0009424", + "Patchy sclerosis of the distal phalanx of the 3rd finger": "HP:0009425", + "Uneven increase in bone density in the outermost bone of the 3rd finger": "HP:0009425", + "Distal/middle symphalangism of 3rd finger": "HP:0009426", + "Fused outermost and middle bones of middle finger": "HP:0009426", + "Symphalangism of the distal and middle phalanges of the 3rd finger": "HP:0009426", + "Triangular shaped distal phalanx of the 3rd finger": "HP:0009427", + "Triangular shaped outermost bone of the middle finger": "HP:0009427", + "Curved distal phalanx of the 3rd finger": "HP:0009428", + "Curved outermost bone of the 3rd finger": "HP:0009428", + "Aplasia of the distal phalanx of the 3rd finger": "HP:0009429", + "Absent of the outermost bone of the middle finger": "HP:0009429", + "Broad middle phalanx of the 3rd finger": "HP:0009430", + "Broad middle bone of middle finger": "HP:0009430", + "Wide/broad middle phalanx of middle-finger": "HP:0009430", + "Bullet-shaped middle phalanx of the 3rd finger": "HP:0009431", + "Bullet-shaped middle bone of middle finger": "HP:0009431", + "Curved middle phalanx of the 3rd finger": "HP:0009432", + "Curved middle bone of the middle finger": "HP:0009432", + "Osteolytic defects of the middle phalanx of the 3rd finger": "HP:0009433", + "Patchy sclerosis of the middle phalanx of the 3rd finger": "HP:0009434", + "Uneven increase in bone density in the middle bone of the middle finger": "HP:0009434", + "Symphalangism of middle phalanx of 3rd finger": "HP:0009435", + "Fused middle bone of middle finger": "HP:0009435", + "Triangular shaped middle phalanx of the 3rd finger": "HP:0009436", + "Triangular shaped middle bone of the middle finger": "HP:0009436", + "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger": "HP:0009437", + "Absent/small middle bone of the middle finger": "HP:0009437", + "Absent/underdeveloped middle bone of the middle finger": "HP:0009437", + "Absent middle phalanx of 3rd finger": "HP:0009438", + "Absent middle bone of middle finger": "HP:0009438", + "Absent middle phalanx of middle finger": "HP:0009438", + "Aplasia of the middle phalanx of the 3rd finger": "HP:0009438", + "Short middle phalanx of the 3rd finger": "HP:0009439", + "Brachymesophalangy III (finger)": "HP:0009439", + "Hypoplastic/small middle phalanx of the 3rd finger": "HP:0009439", + "Short middle bone of middle finger": "HP:0009439", + "Broad phalanges of the 3rd finger": "HP:0009440", + "Wide bones of middle finger": "HP:0009440", + "Wide/broad middle finger phalanges": "HP:0009440", + "Bullet-shaped phalanges of the 3rd finger": "HP:0009441", + "Bullet-shaped bones of middle finger": "HP:0009441", + "Curved phalanges of the 3rd finger": "HP:0009442", + "Curved bones of middle finger": "HP:0009442", + "Osteolytic defects of the phalanges of the 3rd finger": "HP:0009443", + "Lytic defects of middle finger phalanges": "HP:0009443", + "Patchy sclerosis of 3rd finger phalanx": "HP:0009444", + "Patchy sclerosis of middle finger phalanges": "HP:0009444", + "Patchy sclerosis of the phalanges of the 3rd finger": "HP:0009444", + "Uneven increase in bone density in middle finger bone": "HP:0009444", + "Symphalangism of the 3rd finger": "HP:0009445", + "Fused middle finger": "HP:0009445", + "Triangular shaped phalanges of the 3rd finger": "HP:0009446", + "Triangular shaped bone of the middle finger": "HP:0009446", + "Aplasia/Hypoplasia of the phalanges of the 3rd finger": "HP:0009447", + "Absent/small middle finger bone": "HP:0009447", + "Absent/underdeveloped middle finger bone": "HP:0009447", + "Hypoplastic middle finger phalanges": "HP:0009447", + "Short middle finger phalanges": "HP:0009447", + "Small middle finger phalanges": "HP:0009447", + "obsolete Aplasia of the phalanges of the 3rd finger": "HP:0009448", + "obsolete Hypoplastic/small phalanges of the 3rd finger": "HP:0009449", + "Broad proximal phalanx of the 3rd finger": "HP:0009450", + "Broad innermost bone of middle finger": "HP:0009450", + "Bullet-shaped proximal phalanx of the 3rd finger": "HP:0009451", + "Bullet-shaped innermost bone of the middle finger": "HP:0009451", + "Curved proximal phalanx of the 3rd finger": "HP:0009452", + "Curved innermost bone of middle finger": "HP:0009452", + "Osteolytic defects of the proximal phalanx of the 3rd finger": "HP:0009453", + "Patchy sclerosis of the proximal phalanx of the 3rd finger": "HP:0009454", + "Uneven increase in bone density in the innermost bone of the middle finger": "HP:0009454", + "Symphalangism affecting the proximal phalanx of the 3rd finger": "HP:0009455", + "Fused innermost bone of middle finger": "HP:0009455", + "Triangular shaped proximal phalanx of the 3rd finger": "HP:0009456", + "Triangular shaped innermost bone of middle finger": "HP:0009456", + "Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger": "HP:0009457", + "Absent/small innermost bone of middle finger": "HP:0009457", + "Absent/underdeveloped innermost bone of middle finger": "HP:0009457", + "Aplasia of the proximal phalanx of the 3rd finger": "HP:0009458", + "Absent innermost bone of middle finger": "HP:0009458", + "Short proximal phalanx of the 3rd finger": "HP:0009459", + "Hypoplastic/small proximal phalanx of the 3rd finger": "HP:0009459", + "Short innermost bone of middle finger": "HP:0009459", + "Short proximal middle-finger phalanx": "HP:0009459", + "Short proximal phalanx of the third finger": "HP:0009459", + "Small proximal middle-finger phalanx": "HP:0009459", + "Aplasia of the 3rd finger": "HP:0009460", + "Absent middle finger": "HP:0009460", + "Short 3rd finger": "HP:0009461", + "Hypoplastic/small 3rd finger": "HP:0009461", + "Short middle finger": "HP:0009461", + "Radial deviation of the 3rd finger": "HP:0009462", + "Inward turned middle finger": "HP:0009462", + "Ulnar deviation of the 3rd finger": "HP:0009463", + "Ulnar deviation of middle fingers": "HP:0009463", + "Ulnar deviation of the 2nd finger": "HP:0009464", + "Medially deviated index finger": "HP:0009464", + "Second finger ulnar deviation": "HP:0009464", + "Ulnar angulation of the index finger": "HP:0009464", + "Ulnar deviation of index fingers": "HP:0009464", + "Ulnar deviation of finger": "HP:0009465", + "Finger bends toward pinky": "HP:0009465", + "Ulnar Drift": "HP:0009465", + "Radial deviation of finger": "HP:0009466", + "Radially deviated fingers": "HP:0009466", + "Radially deviated phalanges": "HP:0009466", + "Radial deviation of the 2nd finger": "HP:0009467", + "Radially deviated index finger": "HP:0009467", + "Deviation of the 2nd finger": "HP:0009468", + "Deviated index finger": "HP:0009468", + "Displaced index finger": "HP:0009468", + "Contracture of the distal interphalangeal joint of the 3rd finger": "HP:0009469", + "Contracture of the outermost hinge joint of the 3rd finger": "HP:0009469", + "Contracture of the metacarpophalangeal joint of the 3rd finger": "HP:0009470", + "Contracture of the proximal interphalangeal joint of the 3rd finger": "HP:0009471", + "Camptodactyly of the 3rd finger": "HP:0009471", + "Camptodactyly of the third finger": "HP:0009471", + "Joint contracture of the hand": "HP:0009473", + "Contractures involving the hands": "HP:0009473", + "Contractures of the hands": "HP:0009473", + "Proximal/middle symphalangism of 4th finger": "HP:0009477", + "Fused innermost and middle bone of fourth finger": "HP:0009477", + "Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal": "HP:0009478", + "Fused innermost bone of ring finger with 4th long bone of hand": "HP:0009478", + "Proximal/middle symphalangism of 3rd finger": "HP:0009482", + "Fused of innermost and middle bones of middle finger": "HP:0009482", + "Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal": "HP:0009483", + "Fused innermost bones of middle finger with middle long bone of hand": "HP:0009483", + "Deviation of the hand or of fingers of the hand": "HP:0009484", + "Displaced hand or fingers of the hand": "HP:0009484", + "Radial deviation of the hand or of fingers of the hand": "HP:0009485", + "Radial deviation of the hand": "HP:0009486", + "Radial deviation of hands": "HP:0009486", + "Ulnar deviation of the hand": "HP:0009487", + "Ulnar deviation of hands": "HP:0009487", + "Ulnar deviation of the hands": "HP:0009487", + "Absent epiphyses of the 2nd finger": "HP:0009488", + "Absent end part of index finger": "HP:0009488", + "Bracket epiphyses of the 2nd finger": "HP:0009489", + "Bracket shaped end part of index finger": "HP:0009489", + "Bracket-epiphyses of index finger": "HP:0009489", + "Cone-shaped epiphyses of the 2nd finger": "HP:0009490", + "Cone-shaped end part of the index finger": "HP:0009490", + "Enlarged epiphyses of the 2nd finger": "HP:0009491", + "Enlarged end part of the index finger": "HP:0009491", + "Fragmentation of the epiphyses of the 2nd finger": "HP:0009492", + "Fragmentation of end part of the index finger": "HP:0009492", + "Irregular epiphyses of the 2nd finger": "HP:0009493", + "Irregular end part of the index finger": "HP:0009493", + "Ivory epiphyses of the 2nd finger": "HP:0009494", + "Increased bone density of end part of the index finger bone": "HP:0009494", + "Pseudoepiphysis of the 2nd finger": "HP:0009495", + "Accessory index finger epiphysis": "HP:0009495", + "Small epiphyses of the 2nd finger": "HP:0009496", + "Small end part of the index finger": "HP:0009496", + "Stippling of the epiphyses of the 2nd finger": "HP:0009497", + "Speckled calcifications in end part of the index finger": "HP:0009497", + "Triangular epiphyses of the 2nd finger": "HP:0009498", + "Triangular end part of the index finger": "HP:0009498", + "Abnormality of the epiphysis of the distal phalanx of the 2nd finger": "HP:0009499", + "Abnormality of the end part of the outermost bone of the index finger": "HP:0009499", + "Epiphyseal abnormality of terminal index finger phalanx": "HP:0009499", + "Abnormality of the epiphysis of the middle phalanx of the 2nd finger": "HP:0009500", + "Abnormality of end part of the middle bone of the index finger": "HP:0009500", + "Epiphyseal abnormality of middle phalanx of the 2nd finger": "HP:0009500", + "Abnormality of the epiphysis of the proximal phalanx of the 2nd finger": "HP:0009501", + "Epiphyseal abnormality of the proximal phalanx of the 2nd finger": "HP:0009501", + "Absent epiphysis of the distal phalanx of the 2nd finger": "HP:0009502", + "Absent end part of the outermost bone of the index finger": "HP:0009502", + "Absent ossification/absent epiphysis of terminal index finger phalanx": "HP:0009502", + "Bracket epiphysis of the distal phalanx of the 2nd finger": "HP:0009503", + "Bracket shaped end part of the outermost bone of the index finger": "HP:0009503", + "Cone-shaped epiphysis of the distal phalanx of the 2nd finger": "HP:0009504", + "Cone-shaped end part of the outermost bone of the index finger": "HP:0009504", + "Enlarged epiphysis of the distal phalanx of the 2nd finger": "HP:0009505", + "Enlarged end part of the outermost bone of the index finger": "HP:0009505", + "Fragmentation of the epiphysis of the distal phalanx of the 2nd finger": "HP:0009506", + "Fragmentation of end part of the outermost bone of the index finger": "HP:0009506", + "Irregular epiphysis of the distal phalanx of the 2nd finger": "HP:0009507", + "Irregular end part of the outermost bone of the index finger": "HP:0009507", + "Ivory epiphysis of the distal phalanx of the 2nd finger": "HP:0009508", + "Increased bone density of end part of the outermost bone of the index finger": "HP:0009508", + "Ivory epiphysis of terminal index finger phalanx": "HP:0009508", + "Pseudoepiphysis of the distal phalanx of the 2nd finger": "HP:0009509", + "Small epiphysis of the distal phalanx of the 2nd finger": "HP:0009510", + "Small end part of the outermost bone of the index finger": "HP:0009510", + "Stippling of the epiphysis of the distal phalanx of the 2nd finger": "HP:0009511", + "Speckled calcifications in end part of the outermost bone of the index finger": "HP:0009511", + "Triangular epiphysis of the distal phalanx of the 2nd finger": "HP:0009512", + "Triangular end part of the outermost bone of the index finger": "HP:0009512", + "Absent epiphysis of the middle phalanx of the 2nd finger": "HP:0009513", + "Absent epiphyses of middle phalanx of index finger": "HP:0009513", + "Missing end part of the middle long bone of the index finger": "HP:0009513", + "Bracket epiphysis of the middle phalanx of the 2nd finger": "HP:0009514", + "Bracket shaped end part of the middle long bone of the index finger": "HP:0009514", + "Cone-shaped epiphysis of the middle phalanx of the 2nd finger": "HP:0009515", + "Cone-shaped end part of the middle long bone of the index finger": "HP:0009515", + "Cone-shaped epiphyses of middle phalanx of index finger": "HP:0009515", + "Enlarged epiphysis of the middle phalanx of the 2nd finger": "HP:0009516", + "Enlarged end part of the middle bone of the index finger": "HP:0009516", + "Fragmentation of the epiphysis of the middle phalanx of the 2nd finger": "HP:0009517", + "Fragmentation of end part of the middle long bone of the index finger": "HP:0009517", + "Irregular epiphysis of the middle phalanx of the 2nd finger": "HP:0009518", + "Irregular end part of the middle long bone of the index finger": "HP:0009518", + "Ivory epiphysis of the middle phalanx of the 2nd finger": "HP:0009519", + "Increased bone density of end part of the middle bone of the index finger": "HP:0009519", + "Pseudoepiphysis of the middle phalanx of the 2nd finger": "HP:0009520", + "Small epiphysis of the middle phalanx of the 2nd finger": "HP:0009521", + "Small end part of the innermost long bone of index finger": "HP:0009521", + "Stippling of the epiphysis of the middle phalanx of the 2nd finger": "HP:0009522", + "Speckled calcifications in end part of the middle bone of the index finger": "HP:0009522", + "Triangular epiphysis of the middle phalanx of the 2nd finger": "HP:0009523", + "Triangular end part of the middle bone of the index finger": "HP:0009523", + "Absent epiphysis of the proximal phalanx of the 2nd finger": "HP:0009524", + "Absent end part of innermost long bone of index finger": "HP:0009524", + "Bracket epiphysis of the proximal phalanx of the 2nd finger": "HP:0009525", + "Bracket epiphyses of proximal index finger phalanx": "HP:0009525", + "Bracket shaped end part of innermost long bone of index finger": "HP:0009525", + "Cone-shaped epiphysis of the proximal phalanx of the 2nd finger": "HP:0009526", + "Cone-shaped end part of innermost long bone of index finger": "HP:0009526", + "Cone-shaped epiphysis of proximal index finger phalanx": "HP:0009526", + "Enlarged epiphysis of the proximal phalanx of the 2nd finger": "HP:0009527", + "Enlarged end part of innermost long bone of index finger": "HP:0009527", + "Large epiphysis of proximal index finger phalanx": "HP:0009527", + "Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger": "HP:0009528", + "Fragmentation of end part of innermost long bone of index finger": "HP:0009528", + "Irregular epiphysis of the proximal phalanx of the 2nd finger": "HP:0009529", + "Irregular end part of innermost long bone of index finger": "HP:0009529", + "Ivory epiphysis of the proximal phalanx of the 2nd finger": "HP:0009530", + "Increased bone density of end part of the innermost bone of the index finger": "HP:0009530", + "Pseudoepiphysis of the proximal phalanx of the 2nd finger": "HP:0009531", + "Small epiphysis of the proximal phalanx of the 2nd finger": "HP:0009532", + "Small end part of proximal long bond of index finger": "HP:0009532", + "Stippling of the epiphysis of the proximal phalanx of the 2nd finger": "HP:0009533", + "Speckled calcifications in end part of the innermost long bone of index finger": "HP:0009533", + "Triangular epiphysis of the proximal phalanx of the 2nd finger": "HP:0009534", + "Triangular end part of innermost long bone of index finger": "HP:0009534", + "Triangular epiphysis of proximal index finger phalanx": "HP:0009534", + "Aplasia of the 2nd finger": "HP:0009535", + "Absent index finger": "HP:0009535", + "Absent index finger phalanges": "HP:0009535", + "Aplasia of the index finger": "HP:0009535", + "Short 2nd finger": "HP:0009536", + "Hypoplastic index finger phalanges": "HP:0009536", + "Hypoplastic/small index finger": "HP:0009536", + "Short index finger": "HP:0009536", + "Short index finger phalanges": "HP:0009536", + "Short index fingers": "HP:0009536", + "Flexion contracture of the 2nd finger": "HP:0009537", + "Joint contractures of the 2nd finger": "HP:0009537", + "Contracture of the distal interphalangeal joint of the 2nd finger": "HP:0009538", + "Contracture of the metacarpophalangeal joint of the 2nd finger": "HP:0009539", + "Contracture of the proximal interphalangeal joint of the 2nd finger": "HP:0009540", + "Camptodactyly of 2nd finger": "HP:0009540", + "Camptodactyly of index finger": "HP:0009540", + "Camptodactyly of second finger": "HP:0009540", + "Abnormality of the phalanges of the 2nd finger": "HP:0009541", + "Abnormal index finger bones": "HP:0009541", + "Abnormality of 2nd finger phalanges": "HP:0009541", + "Abnormality of the distal phalanx of the 2nd finger": "HP:0009542", + "Abnormality of terminal index finger phalanx": "HP:0009542", + "Abnormality of the outermost bone of the 2nd finger": "HP:0009542", + "Abnormality of the middle phalanx of the 2nd finger": "HP:0009543", + "Abnormal middle index finger bone": "HP:0009543", + "Abnormality of middle 2nd finger phalanx": "HP:0009543", + "Abnormality of the proximal phalanx of the 2nd finger": "HP:0009544", + "Abnormal innermost index finger bone": "HP:0009544", + "Abnormality of the proximal 2nd finger phalanx": "HP:0009544", + "Symphalangism of the 2nd finger": "HP:0009545", + "Fused index finger bones": "HP:0009545", + "Symphalangism of index finger phalanges": "HP:0009545", + "Triangular shaped phalanges of the 2nd finger": "HP:0009546", + "Triangular bones of index finger": "HP:0009546", + "Triangular index finger phalanges": "HP:0009546", + "Broad phalanges of the 2nd finger": "HP:0009547", + "Wide index finger bones": "HP:0009547", + "Wide/broad index finger phalanges": "HP:0009547", + "Bullet-shaped phalanges of the 2nd finger": "HP:0009548", + "Bullet-shaped index finger bones": "HP:0009548", + "Curved phalanges of the 2nd finger": "HP:0009549", + "Curved index finger bones": "HP:0009549", + "Osteolytic defects of the phalanges of the 2nd finger": "HP:0009550", + "Lytic defect in index finger phalanges": "HP:0009550", + "Patchy sclerosis of 2nd finger phalanx": "HP:0009551", + "Patchy sclerosis of the phalanges of the 2nd finger": "HP:0009551", + "Uneven increase in bone density in index finger bone": "HP:0009551", + "Aplasia/Hypoplasia of the phalanges of the 2nd finger": "HP:0009552", + "Absent/small index finger bone": "HP:0009552", + "Absent/underdeveloped index finger bone": "HP:0009552", + "Abnormality of the hairline": "HP:0009553", + "Preauricular hair displacement": "HP:0009554", + "Hair displacement, preauricular, towards lateral cheekbone": "HP:0009554", + "Hair growing down to cheek": "HP:0009554", + "Projection of scalp hair onto lateral cheek": "HP:0009554", + "Hypoplasia of the pharynx": "HP:0009555", + "Small pharynx": "HP:0009555", + "Decreased size of pharynx": "HP:0009555", + "Underdevelopment of pharynx": "HP:0009555", + "Decreased diameter of pharynx": "HP:0009555", + "Decreased length of pharynx": "HP:0009555", + "Decreased volume of pharynx": "HP:0009555", + "Decreased width of pharynx": "HP:0009555", + "Hypotrophic pharynx": "HP:0009555", + "Absent tibia": "HP:0009556", + "Absent shankbone": "HP:0009556", + "Absent shinbone": "HP:0009556", + "Aplasia of the tibia": "HP:0009556", + "Aplasia/Hypoplasia of the distal phalanx of the 2nd finger": "HP:0009557", + "Absent/small outermost index finger bone": "HP:0009557", + "Absent/underdeveloped outermost index finger bone": "HP:0009557", + "Broad distal phalanx of the 2nd finger": "HP:0009558", + "Wide outermost bone of the index finger": "HP:0009558", + "Bullet-shaped distal phalanx of the 2nd finger": "HP:0009559", + "Bullet-shaped outermost bone of the index finger": "HP:0009559", + "Curved distal phalanx of the 2nd finger": "HP:0009560", + "Curved outermost bone of the index finger": "HP:0009560", + "Osteolytic defects of the distal phalanx of the 2nd finger": "HP:0009561", + "Acro-osteolysis of index finger": "HP:0009561", + "Acro-osteolysis of terminal index finger phalanx": "HP:0009561", + "Osteolytic defects of the outermost bone of the 2nd finger": "HP:0009561", + "Patchy sclerosis of the distal phalanx of the 2nd finger": "HP:0009562", + "Uneven increase in bone density in the outermost bone of the 2nd finger": "HP:0009562", + "Distal/middle symphalangism of 2nd finger": "HP:0009563", + "Fused outermost and middle index finger bones": "HP:0009563", + "Symphalangism of the distal and middle phalanges of the 2nd finger": "HP:0009563", + "Triangular shaped distal phalanx of the 2nd finger": "HP:0009564", + "Triangular shaped outermost bone of the 2nd finger": "HP:0009564", + "Aplasia of the distal phalanx of the 2nd finger": "HP:0009565", + "Absent outermost index finger bone": "HP:0009565", + "Absent terminal index finger phalanx": "HP:0009565", + "Short distal phalanx of the 2nd finger": "HP:0009566", + "Hypoplastic terminal index finger phalanx": "HP:0009566", + "Hypoplastic/small distal phalanx of the 2nd finger": "HP:0009566", + "Short distal phalanx of the second finger": "HP:0009566", + "Short outermost bone of the index finger": "HP:0009566", + "Short terminal index finger phalanx": "HP:0009566", + "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger": "HP:0009568", + "Absent/hypoplastic middle phalanx of 2nd finger": "HP:0009568", + "Absent/small middle index finger bone": "HP:0009568", + "Absent/underdeveloped middle index finger bone": "HP:0009568", + "Hypoplastic/aplastic middle phalanx of index finger": "HP:0009568", + "Broad middle phalanx of the 2nd finger": "HP:0009569", + "Broad middle bone of the index finger": "HP:0009569", + "Bullet-shaped middle phalanx of the 2nd finger": "HP:0009570", + "Bullet-shaped middle bone of index finger": "HP:0009570", + "Curved middle phalanx of the 2nd finger": "HP:0009571", + "Curved middle bone of the index finger": "HP:0009571", + "Osteolytic defects of the middle phalanx of the 2nd finger": "HP:0009572", + "Lytic defects of middle index finger phalanx": "HP:0009572", + "Patchy sclerosis of the middle phalanx of the 2nd finger": "HP:0009573", + "Uneven increase in bone density in the middle bone of the index finger": "HP:0009573", + "Symphalangism of middle phalanx of 2nd finger": "HP:0009574", + "Fused middle bone of index finger": "HP:0009574", + "Triangular shaped middle phalanx of the 2nd finger": "HP:0009575", + "Triangular shaped middle bone of index finger": "HP:0009575", + "Absent middle phalanx of 2nd finger": "HP:0009576", + "Absent middle bone of index finger": "HP:0009576", + "Absent middle phalanx of index finger": "HP:0009576", + "Aplasia of the middle phalanx of the 2nd finger": "HP:0009576", + "Short middle phalanx of the 2nd finger": "HP:0009577", + "Brachymesophalangy II (finger)": "HP:0009577", + "Hypoplastic middle index finger phalanx": "HP:0009577", + "Hypoplastic/small middle phalanx of the 2nd finger": "HP:0009577", + "Short middle bone of index finger": "HP:0009577", + "Proximal/middle symphalangism of the 2nd finger": "HP:0009579", + "Fused innermost and middle index finger bones": "HP:0009579", + "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger": "HP:0009580", + "Absent/small innermost index finger bone": "HP:0009580", + "Absent/underdeveloped innermost index finger bone": "HP:0009580", + "Broad proximal phalanx of the 2nd finger": "HP:0009581", + "Wide innermost bone of index finger": "HP:0009581", + "Wide/broad proximal index finger phalanx": "HP:0009581", + "Bullet-shaped proximal phalanx of the 2nd finger": "HP:0009582", + "Bullet-shaped innermost bone of index finger": "HP:0009582", + "Curved proximal phalanx of the 2nd finger": "HP:0009583", + "Curved innermost bone of index finger": "HP:0009583", + "Osteolytic defects of the proximal phalanx of the 2nd finger": "HP:0009584", + "Lytic defects of proximal index finger phalanx": "HP:0009584", + "Patchy sclerosis of the proximal phalanx of the 2nd finger": "HP:0009585", + "Uneven increase in bone density in innermost index finger bone": "HP:0009585", + "Symphalangism affecting the proximal phalanx of the 2nd finger": "HP:0009586", + "Fused innermost bone of index finger": "HP:0009586", + "Triangular shaped proximal phalanx of the 2nd finger": "HP:0009587", + "Triangular proximal index finger phalanx": "HP:0009587", + "Triangular shaped innermost bone of index finger": "HP:0009587", + "Vestibular schwannoma": "HP:0009588", + "Acoustic Neuroma": "HP:0009588", + "Vestibular Schwann cell tumor": "HP:0009588", + "Vestibular Schwann cell tumour": "HP:0009588", + "Vestibular neurilemmoma": "HP:0009588", + "Vestibular neurinoma": "HP:0009588", + "Vestibular neurolemmoma": "HP:0009588", + "Bilateral vestibular schwannoma": "HP:0009589", + "Bilateral acoustic neuromas": "HP:0009589", + "Unilateral vestibular schwannoma": "HP:0009590", + "Abnorma vestibulocochlear nerve morphology": "HP:0009591", + "Abnormal eighth cranial nerve morphology": "HP:0009591", + "Abnormality of the VIIIth cranial nerve": "HP:0009591", + "Abnormality of the vestibulocochlear nerve": "HP:0009591", + "Astrocytoma": "HP:0009592", + "Peripheral schwannoma": "HP:0009593", + "Retinal hamartoma": "HP:0009594", + "obsolete Occasional neurofibromas": "HP:0009595", + "Aplasia of the proximal phalanx of the 2nd finger": "HP:0009596", + "Absent innermost bone of index finger": "HP:0009596", + "Short proximal phalanx of the 2nd finger": "HP:0009597", + "Hypoplastic/small proximal phalanx of the 2nd finger": "HP:0009597", + "Short proximal index finger phalanx": "HP:0009597", + "Short proximal phalanx of the second finger": "HP:0009597", + "Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal": "HP:0009598", + "Fused innermost bone of index finger with 2nd long bone of hand": "HP:0009598", + "Abnormality of thumb epiphysis": "HP:0009599", + "Abnormality of end part of thumb long bone": "HP:0009599", + "Abnormality of the epiphyses of the thumb": "HP:0009599", + "Abnormality of thumb epiphyses": "HP:0009599", + "Thumb contracture": "HP:0009600", + "Contracture of thumb": "HP:0009600", + "Flexion deformities of thumbs": "HP:0009600", + "Joint contractures of the thumb": "HP:0009600", + "Thumb joint contracture": "HP:0009600", + "Aplasia/Hypoplasia of the thumb": "HP:0009601", + "Absent or hypoplastic thumbs": "HP:0009601", + "Absent/hypoplastic thumb": "HP:0009601", + "Absent/hypoplastic thumbs": "HP:0009601", + "Absent/small thumb": "HP:0009601", + "Absent/underdeveloped thumb": "HP:0009601", + "Aplasia/hypoplasia of thumbs": "HP:0009601", + "Aplastic/hypoplastic thumbs": "HP:0009601", + "Hypoplastic to aplastic thumbs": "HP:0009601", + "Hypoplastic/absent thumb": "HP:0009601", + "Thumb aplasia/hypoplasia": "HP:0009601", + "Abnormality of thumb phalanx": "HP:0009602", + "Abnormality of the thumb bones": "HP:0009602", + "Abnormality of thumb phalanges": "HP:0009602", + "Deviation of the thumb": "HP:0009603", + "Abnormal thumb placement": "HP:0009603", + "Deviated thumb": "HP:0009603", + "Displacement of the thumb": "HP:0009603", + "Complete duplication of distal phalanx of the thumb": "HP:0009606", + "Complete duplication of outermost bone of the thumb": "HP:0009606", + "Complete duplication of proximal phalanx of the thumb": "HP:0009608", + "Complete duplication of the innermost bone of the thumb": "HP:0009608", + "Duplication of the 1st metacarpal": "HP:0009609", + "Partial/complete duplication of the 1st long bone of hand": "HP:0009609", + "Partial/complete duplication of the 1st metacarpal": "HP:0009609", + "Bifid distal phalanx of the thumb": "HP:0009611", + "Bifid distal phalanx of thumb": "HP:0009611", + "Bifid terminal phalanges of thumbs": "HP:0009611", + "Bifid thumb distal phalanx": "HP:0009611", + "Incipient distal thumb phalanx duplication": "HP:0009611", + "Notched outermost bone of the thumb": "HP:0009611", + "Notched outermost bone of thumb": "HP:0009611", + "Notched terminal thumb phalanx": "HP:0009611", + "Duplication of the distal phalanx of the thumb": "HP:0009612", + "Double thumb distal phalanges": "HP:0009612", + "Duplicated terminal phalanx of thumb": "HP:0009612", + "Duplication of distal thumb phalanx": "HP:0009612", + "Duplication of terminal thumb phalanx": "HP:0009612", + "Duplication of the outermost bone of the thumb": "HP:0009612", + "Partial/complete duplication of the distal phalanx of the thumb": "HP:0009612", + "Duplication of the proximal phalanx of the thumb": "HP:0009613", + "Notched innermost bone of thumb": "HP:0009613", + "Partial/complete duplication of the proximal phalanx of the thumb": "HP:0009613", + "Bifid proximal phalanx of the thumb": "HP:0009614", + "Notched thumb bone": "HP:0009614", + "Complete duplication of the first metacarpal": "HP:0009615", + "Complete duplication of the first long bone of hand": "HP:0009615", + "Bifid first metacarpal": "HP:0009616", + "Notched first long bone of hand": "HP:0009616", + "partial duplication of the first metacarpal": "HP:0009616", + "Abnormality of the distal phalanx of the thumb": "HP:0009617", + "Abnormality of terminal thumb phalanx": "HP:0009617", + "Abnormality of the outermost bone of the thumb": "HP:0009617", + "Abnormality of the proximal phalanx of the thumb": "HP:0009618", + "Abnormal innermost thumb bone": "HP:0009618", + "Abnormality of proximal thumb phalanx": "HP:0009618", + "obsolete Radial deviation of the thumb": "HP:0040021", + "obsolete Ulnar deviation of the thumb": "HP:0009621", + "Distally placed thumb": "HP:0009622", + "Proximal placement of thumb": "HP:0009623", + "Attachment of thumb close to wrist": "HP:0009623", + "Low implantation of the thumb": "HP:0009623", + "Low-set thumb": "HP:0009623", + "Proximally placed thumbs": "HP:0009623", + "Carpometacarpal thumb joint contracture": "HP:0009624", + "Contracture of the carpometacarpal joint of the thumb": "HP:0009624", + "Metacarpophalangeal thumb joint contracture": "HP:0009625", + "Contracture of the metacarpophalangeal joint of the thumb": "HP:0009625", + "Interphalangeal thumb joint contracture": "HP:0009626", + "Contracture of the interphalangeal joint of the thumb": "HP:0009626", + "Interphalangeal extension contractures of thumbs": "HP:0009626", + "Aplasia/Hypoplasia of the proximal phalanx of the thumb": "HP:0009629", + "Absent/small innermost thumb bone": "HP:0009629", + "Absent/underdeveloped innermost thumb bone": "HP:0009629", + "Broad proximal phalanx of the thumb": "HP:0009630", + "Broad innermost thumb bone": "HP:0009630", + "Bullet-shaped proximal phalanx of the thumb": "HP:0009631", + "Bullet-shaped innermost thumb bone": "HP:0009631", + "Curved proximal phalanx of the thumb": "HP:0009632", + "Curved innermost thumb bone": "HP:0009632", + "Osteolytic defect of the proximal phalanx of the thumb": "HP:0009633", + "Osteolytic defects of the proximal phalanx of the thumb": "HP:0009633", + "Patchy sclerosis of the proximal phalanx of the thumb": "HP:0009634", + "Uneven increase in bone density in the innermost thumb bone": "HP:0009634", + "Synostosis of thumb phalanx": "HP:0009635", + "Fusion of thumb bone": "HP:0009635", + "Triangular shaped proximal phalanx of the thumb": "HP:0009636", + "Triangular innermost thumb bone": "HP:0009636", + "Triangular proximal thumb phalanx": "HP:0009636", + "Absent proximal phalanx of thumb": "HP:0009637", + "Absent innermost thumb bone": "HP:0009637", + "Absent ossification/absent proximal thumb phalanx": "HP:0009637", + "Aplasia of the proximal phalanx of the thumb": "HP:0009637", + "Short proximal phalanx of thumb": "HP:0009638", + "Hypoplastic/small proximal phalanx of the thumb": "HP:0009638", + "Short proximal phalanges of thumb": "HP:0009638", + "Short proximal thumb bone": "HP:0009638", + "Short proximal thumb phalanx": "HP:0009638", + "Synostosis of the proximal phalanx of the thumb with the 1st metacarpal": "HP:0009640", + "Ankylosis of the metacarpophalangeal joint of the thumb": "HP:0009640", + "Fusion of the innermost bone of the thumb with the 1st long bone of hand": "HP:0009640", + "Aplasia/Hypoplasia of the distal phalanx of the thumb": "HP:0009641", + "Absent/small outermost thumb bone": "HP:0009641", + "Absent/underdeveloped outermost thumb bone": "HP:0009641", + "Broad distal phalanx of the thumb": "HP:0009642", + "Broad outermost bone of the thumb": "HP:0009642", + "Broad terminal thumb phalanx": "HP:0009642", + "Wide distal phalanx of thumb": "HP:0009642", + "Wide outermost bone of thumb": "HP:0009642", + "Bullet-shaped distal phalanx of the thumb": "HP:0009643", + "Bullet-shaped outermost bone of the thumb": "HP:0009643", + "Curved distal phalanx of the thumb": "HP:0009644", + "Curved outermost bone of the thumb": "HP:0009644", + "Osteolytic defect of the distal phalanx of the thumb": "HP:0009645", + "Osteolytic defects of the distal phalanx of the thumb": "HP:0009645", + "Osteolytic defects of the outermost bone of the thumb": "HP:0009645", + "Patchy sclerosis of the distal phalanx of the thumb": "HP:0009646", + "Uneven increase in bone density in the outermost bone of the thumb": "HP:0009646", + "Triangular shaped distal phalanx of the thumb": "HP:0009648", + "Triangular shaped outermost bone of the thumb": "HP:0009648", + "Aplasia of the distal phalanx of the thumb": "HP:0009649", + "Absence of the outermost bone of the thumb": "HP:0009649", + "Absent ossification/absent terminal thumb phalanx": "HP:0009649", + "Aplasia of the outermost bone of the thumb": "HP:0009649", + "Short distal phalanx of the thumb": "HP:0009650", + "Hypoplastic terminal thumb phalanx": "HP:0009650", + "Hypoplastic/small distal phalanx of the thumb": "HP:0009650", + "Short outermost bone of the thumb": "HP:0009650", + "Short terminal thumb phalanx": "HP:0009650", + "Short thumb terminal phalanx": "HP:0009650", + "Small terminal thumb phalanx": "HP:0009650", + "Bullet-shaped thumb phalanx": "HP:0009652", + "Bullet-shaped phalanges of the thumb": "HP:0009652", + "Bullet-shaped thumb bone": "HP:0009652", + "Curved thumb phalanx": "HP:0009653", + "Curved phalanges of the thumb": "HP:0009653", + "Curved thumb bone": "HP:0009653", + "Osteolytic defect of thumb phalanx": "HP:0009654", + "Osteolytic defects of the phalanges of the thumb": "HP:0009654", + "Patchy sclerosis of thumb phalanx": "HP:0009655", + "Patchy sclerosis of the phalanges of the thumb": "HP:0009655", + "Uneven increase in bone density in thumb bone": "HP:0009655", + "Symphalangism of the thumb": "HP:0009656", + "Fused thumb bones": "HP:0009656", + "Fused thumb phalanges": "HP:0009656", + "Symphalangism of the distal and proximal phalanges of the thumb": "HP:0009656", + "Triangular shaped thumb phalanx": "HP:0009657", + "Triangular shaped phalanges of the thumb": "HP:0009657", + "Triangular shaped thumb bone": "HP:0009657", + "Triangular thumb phalanges": "HP:0009657", + "Aplasia/Hypoplasia of the phalanges of the thumb": "HP:0009658", + "Absent/small thumb bones": "HP:0009658", + "Absent/underdeveloped thumb bones": "HP:0009658", + "Partial absence of thumb": "HP:0009659", + "Aplasia of the phalanges of the thumb": "HP:0009659", + "Short phalanx of the thumb": "HP:0009660", + "Hypoplastic thumb phalanges": "HP:0009660", + "Hypoplastic/small phalanges of the thumb": "HP:0009660", + "Short thumb bone": "HP:0009660", + "Short thumb phalanges": "HP:0009660", + "Abnormality of the epiphysis of the distal phalanx of the thumb": "HP:0009662", + "Abnormality of terminal thumb epiphysis": "HP:0009662", + "Abnormality of the end part of the outermost bone of the thumb": "HP:0009662", + "Abnormality of the epiphysis of the proximal phalanx of the thumb": "HP:0009663", + "Abnormality of end part of thumb innermost long bone": "HP:0009663", + "Absent epiphysis of the proximal phalanx of the thumb": "HP:0009664", + "Absent end part of thumb innermost long bone": "HP:0009664", + "Bracket epiphysis of the proximal phalanx of the thumb": "HP:0009665", + "Bracket shaped end part of thumb innermost long bone": "HP:0009665", + "Cone-shaped epiphysis of the proximal phalanx of the thumb": "HP:0009666", + "Cone-shaped end part of thumb innermost long bone": "HP:0009666", + "Enlarged epiphysis of the proximal phalanx of the thumb": "HP:0009667", + "Enlarged end part of thumb innermost long bone": "HP:0009667", + "Fragmentation of the epiphysis of the proximal phalanx of the thumb": "HP:0009668", + "Fragmentation of end part of thumb innermost long bone": "HP:0009668", + "Irregular epiphysis of the proximal phalanx of the thumb": "HP:0009669", + "Irregular end part of thumb innermost long bone": "HP:0009669", + "Ivory epiphysis of the proximal phalanx of the thumb": "HP:0009670", + "Increased bone density of end part of the innermost bone of the thumb": "HP:0009670", + "Pseudoepiphysis of the proximal phalanx of the thumb": "HP:0009671", + "Small epiphysis of the proximal phalanx of the thumb": "HP:0009672", + "Small end part of thumb innermost long bone": "HP:0009672", + "Stippling of the epiphysis of the proximal phalanx of the thumb": "HP:0009673", + "Speckled calcifications in end part of thumb innermost long bone": "HP:0009673", + "Triangular epiphysis of the proximal phalanx of the thumb": "HP:0009674", + "Triangular end part of thumb innermost long bone": "HP:0009674", + "Absent epiphysis of the distal phalanx of the thumb": "HP:0009675", + "Absent end part of thumb outermost long bone": "HP:0009675", + "Bracket epiphysis of the distal phalanx of the thumb": "HP:0009676", + "Bracket shaped end part of thumb outermost long bone": "HP:0009676", + "Cone-shaped epiphysis of the distal phalanx of the thumb": "HP:0009677", + "Cone-shaped end part of thumb outermost long bone": "HP:0009677", + "Cone-shaped terminal thumb phalanx epiphysis": "HP:0009677", + "Enlarged epiphysis of the distal phalanx of the thumb": "HP:0009678", + "Enlarged end part of thumb outermost long bone": "HP:0009678", + "Large terminal thumb phalanx epiphysis": "HP:0009678", + "Fragmentation of the epiphysis of the distal phalanx of the thumb": "HP:0009679", + "Fragmentation of end part thumb outermost long bone": "HP:0009679", + "Irregular epiphysis of the distal phalanx of the thumb": "HP:0009680", + "Irregular end part of thumb outermost bone": "HP:0009680", + "Ivory epiphysis of the distal phalanx of the thumb": "HP:0009681", + "Increased bone density of end part of the outermost bone of the thumb": "HP:0009681", + "Pseudoepiphysis of the distal phalanx of the thumb": "HP:0009682", + "Pseudoepiphysis of the outermost bone of the thumb": "HP:0009682", + "Small epiphysis of the distal phalanx of the thumb": "HP:0009683", + "Small end part of thumb outermost bone": "HP:0009683", + "Stippling of the epiphysis of the distal phalanx of the thumb": "HP:0009684", + "Speckled calcifications in the end part of the outermost thumb bone": "HP:0009684", + "Triangular epiphysis of the distal phalanx of the thumb": "HP:0009685", + "Triangular end part of thumb outermost bone": "HP:0009685", + "Triangular epiphysis of the outermost bone of the thumb": "HP:0009685", + "Absent epiphyses of the thumb": "HP:0009686", + "Bracket epiphyses of the thumb": "HP:0009687", + "Bracket shaped end part of the thumb bone": "HP:0009687", + "Cone-shaped epiphysis of the thumb": "HP:0009688", + "Cone-shaped end part of thumb long bone": "HP:0009688", + "Cone-shaped epiphyses of the thumb": "HP:0009688", + "Cone-shaped thumb epiphyses": "HP:0009688", + "Enlarged thumb epiphysis": "HP:0009689", + "Enlarged end part of thumb long bone": "HP:0009689", + "Enlarged epiphyses of the thumb": "HP:0009689", + "Fragmentation of thumb epiphysis": "HP:0009690", + "Fragmentation of end part of long bone of thumb": "HP:0009690", + "Fragmentation of the epiphyses of the thumb": "HP:0009690", + "Irregular thumb epiphysis": "HP:0009691", + "Irregular end part of thumb long bone": "HP:0009691", + "Irregular epiphyses of the thumb": "HP:0009691", + "Ivory epiphysis of the thumb": "HP:0009692", + "Increased bone density of end part of the thumb": "HP:0009692", + "Ivory epiphyses of the thumb": "HP:0009692", + "Pseudoepiphysis of the thumb": "HP:0009693", + "Pseudoepiphyses of the thumb": "HP:0009693", + "Small thumb epiphysis": "HP:0009694", + "Small end part of thumb long bone": "HP:0009694", + "Small epiphyses of the thumb": "HP:0009694", + "Stippling of thumb epiphysis": "HP:0009695", + "Speckled calcifications in end part of thumb bone": "HP:0009695", + "Stippling of the epiphyses of the thumb": "HP:0009695", + "Triangular epiphyses of the thumb": "HP:0009696", + "Triangular end part of the thumb bone": "HP:0009696", + "Contracture of the distal interphalangeal joint of the fingers": "HP:0009697", + "Osteolytic defects of the hand bones": "HP:0009699", + "Lytic defects of hand bones": "HP:0009699", + "Finger symphalangism": "HP:0009700", + "Fused finger bones": "HP:0009700", + "Symphalangism of the hand": "HP:0009700", + "Synostosis involving bones of the fingers": "HP:0009700", + "Metacarpal synostosis": "HP:0009701", + "Fused long bones of hand": "HP:0009701", + "Synostosis involving metacarpal bones": "HP:0009701", + "Synostosis involving the metacarpal bones": "HP:0009701", + "Carpal synostosis": "HP:0009702", + "Fused wrist bones": "HP:0009702", + "Carpal bone fusion": "HP:0009702", + "Carpal fusion": "HP:0009702", + "Fused carpal bones": "HP:0009702", + "Fusion of carpal bones": "HP:0009702", + "Synostosis involving the carpal bones": "HP:0009702", + "Synostosis involving the 1st metacarpal": "HP:0009703", + "First metacarpophalangeal joint synostosis": "HP:0009703", + "Fusion involving 1st long bone of hand": "HP:0009703", + "Symphalangism affecting the 1st metacarpal": "HP:0009703", + "Chronic CSF lymphocytosis": "HP:0009704", + "Chronic cerebrospinal fluid lymphocytosis": "HP:0009704", + "Synostosis involving the 2nd metacarpal": "HP:0009705", + "Fusion involving the 2nd long bone of hand": "HP:0009705", + "Synostosis involving the 3rd metacarpal": "HP:0009706", + "Fusion involving the 3rd long bone of hand": "HP:0009706", + "Synostosis involving the 4th metacarpal": "HP:0009707", + "Fusion involving the 4th long bone of hand": "HP:0009707", + "Synostosis involving the 5th metacarpal": "HP:0009708", + "Fusion involving the 5th long bone of hand": "HP:0009708", + "Increased CSF interferon alpha": "HP:0009709", + "Chilblains": "HP:0009710", + "Chilblain lesions": "HP:0009710", + "Retinal capillary hemangioma": "HP:0009711", + "Retinal hemangioblastoma": "HP:0009711", + "Spinal hemangioblastoma": "HP:0009713", + "Abnormal epididymis morphology": "HP:0009714", + "Abnormality of the epididymis": "HP:0009714", + "Papillary cystadenoma of the epididymis": "HP:0009715", + "Subependymal nodules": "HP:0009716", + "Cortical tubers": "HP:0009717", + "Subependymal giant-cell astrocytoma": "HP:0009718", + "Hypomelanotic macule": "HP:0009719", + "Hypomelanotic macules": "HP:0009719", + "Adenoma sebaceum": "HP:0009720", + "Facial angiofibromas": "HP:0009720", + "Sebaceous adenoma": "HP:0009720", + "Sebaceous adenomas": "HP:0009720", + "Shagreen patch": "HP:0009721", + "Dental enamel pits": "HP:0009722", + "Dental enamel pitting": "HP:0009722", + "Pitting of tooth enamel": "HP:0009722", + "Tooth enamel pits": "HP:0009722", + "Abnormal subungual morphology": "HP:0009723", + "Abnormality of the subungual region": "HP:0009723", + "Subungual fibromas": "HP:0009724", + "Subungual fibroma": "HP:0009724", + "Bladder neoplasm": "HP:0009725", + "Bladder cancer": "HP:0009725", + "Bladder tumor": "HP:0009725", + "Bladder tumour": "HP:0009725", + "Renal neoplasm": "HP:0009726", + "Kidney cancer": "HP:0009726", + "Neoplasia of the kidneys": "HP:0009726", + "Renal tumors": "HP:0009726", + "Renal tumours": "HP:0009726", + "Renal neoplasia": "HP:0009726", + "Achromatic retinal patches": "HP:0009727", + "Punched out areas of chorioretinal hypopigmentation": "HP:0009727", + "Neoplasm of striated muscle": "HP:0009728", + "Tumors of striated muscle": "HP:0009728", + "Tumours of striated muscle": "HP:0009728", + "Cardiac rhabdomyoma": "HP:0009729", + "Rhabdomyoma": "HP:0009730", + "Cerebral hamartoma": "HP:0009731", + "Cerebral hamartomata": "HP:0009731", + "Plexiform neurofibroma": "HP:0009732", + "Glioma": "HP:0009733", + "Optic nerve glioma": "HP:0009734", + "Optic glioma": "HP:0009734", + "Spinal neurofibroma": "HP:0009735", + "Spinal neurofibromas": "HP:0009735", + "Tibial pseudarthrosis": "HP:0009736", + "Tibial pseudoarthrosis": "HP:0009736", + "Lisch nodules": "HP:0009737", + "Iris hamartomas": "HP:0009737", + "Abnormal antihelix morphology": "HP:0009738", + "Abnormal antehelix": "HP:0009738", + "Abnormal anthelix": "HP:0009738", + "Abnormal antihelix": "HP:0009738", + "Hypoplasia of the antihelix": "HP:0009739", + "Hypoplastic antihelix": "HP:0009739", + "Aplasia of the parotid gland": "HP:0009740", + "Abnormally small parotid gland": "HP:0009740", + "Underdevelopment of parotid gland": "HP:0009740", + "Absence of the parotid gland": "HP:0009740", + "Hypoplasia of parotid gland": "HP:0009740", + "Nephrosclerosis": "HP:0009741", + "Scarring of kidney arteries": "HP:0009741", + "Thickening of kidney artiries": "HP:0009741", + "Stiff shoulders": "HP:0009742", + "Distichiasis": "HP:0009743", + "Distichiasis of eyelid eyelashes": "HP:0009743", + "Abnormal spinal dura mater morphology": "HP:0009744", + "Abnormality of the spinal dura mater": "HP:0009744", + "Spinal arachnoid cyst": "HP:0009745", + "Epidural arachnoid cysts of the spinal canal": "HP:0009745", + "Thick nasal septum": "HP:0009746", + "Broad nasal septum": "HP:0009746", + "Broad septum of nose": "HP:0009746", + "Thick septum of nose": "HP:0009746", + "Wide nasal septum": "HP:0009746", + "Wide septum of nose": "HP:0009746", + "Lumbosacral hirsutism": "HP:0009747", + "Large earlobe": "HP:0009748", + "Fleshy earlobe": "HP:0009748", + "Fleshy earlobes": "HP:0009748", + "Prominent ear lobes": "HP:0009748", + "Prominent ear lobules": "HP:0009748", + "Aplasia of the pectoralis major muscle": "HP:0009751", + "Absent pectoralis major muscle": "HP:0009751", + "Cleft in skull base": "HP:0009752", + "Cleft in cranial base": "HP:0009752", + "Fibrous syngnathia": "HP:0009754", + "Alveolar synechiae": "HP:0009754", + "Fusion of the alveolar ridges": "HP:0009754", + "Ankyloblepharon": "HP:0009755", + "Adhesion of eyelids": "HP:0009755", + "Ankyloblepharon filiforme adnatum": "HP:0009755", + "Eyelid synechiae": "HP:0009755", + "Eyelids stuck together": "HP:0009755", + "Fused eyelid": "HP:0009755", + "Popliteal pterygium": "HP:0009756", + "Intercrural pterygium": "HP:0009757", + "Pyramidal skinfold extending from the base to the top of the nails": "HP:0009758", + "Neck pterygia": "HP:0009759", + "Neck pterygium": "HP:0009759", + "Antecubital pterygium": "HP:0009760", + "Pterygium cubitale": "HP:0009760", + "Webbed elbow": "HP:0009760", + "Anterior clefting of vertebral bodies": "HP:0009761", + "Facial wrinkling": "HP:0009762", + "Limb pain": "HP:0009763", + "Pain in extremities": "HP:0009763", + "Low hanging columella": "HP:0009765", + "Columella, low": "HP:0009765", + "Columella, low hanging": "HP:0009765", + "Extension of the columella below the ala nasi": "HP:0009765", + "Low-hanging columella": "HP:0009765", + "Columella extends below the ala nasi": "HP:0009765", + "Prominent columella": "HP:0009765", + "Rounded columella": "HP:0009765", + "Aplasia/Hypoplasia of the phalanges of the hand": "HP:0009767", + "Aplastic/hypoplastic phalanges": "HP:0009767", + "Aplastic/hypoplastic phalanges of the hand": "HP:0009767", + "Hypoplastic/absent phalanges": "HP:0009767", + "Broad phalanges of the hand": "HP:0009768", + "Wide hand bones": "HP:0009768", + "Widening of phalanges of the hand": "HP:0009768", + "Bullet-shaped phalanges of the hand": "HP:0009769", + "Bullet-shaped hand bones": "HP:0009769", + "Bullet-shaped phalanges of the hands": "HP:0009769", + "Conical bullet-shaped distal ends of phalanges": "HP:0009769", + "Curved phalanges of the hand": "HP:0009770", + "Curved hand bones": "HP:0009770", + "Osteolytic defects of the phalanges of the hand": "HP:0009771", + "Acro-osteolysis": "HP:0009771", + "Acroosteolysis": "HP:0009771", + "Breakdown of small bones of fingers": "HP:0009771", + "Patchy sclerosis of finger phalanx": "HP:0009772", + "Patchy sclerosis of the phalanges of the hand": "HP:0009772", + "Phalangeal sclerosis": "HP:0009772", + "Uneven increase in bone density in finger bone": "HP:0009772", + "Symphalangism affecting the phalanges of the hand": "HP:0009773", + "Fused finger bones of the hand": "HP:0009773", + "Synostosis involving phalanges of the hand": "HP:0009773", + "Triangular shaped phalanges of the hand": "HP:0009774", + "Delta phalanx/delta-like phalanx": "HP:0009774", + "Triangular shaped hand bones": "HP:0009774", + "Amniotic constriction ring": "HP:0009775", + "Amniotic bands": "HP:0009775", + "Congenital constriction band sequence": "HP:0009775", + "Pseudoainhum": "HP:0009775", + "Amniotic constriction band": "HP:0009775", + "Adactyly": "HP:0009776", + "Absent fingers or toes": "HP:0009776", + "Aphalangy": "HP:0009776", + "Absent thumb": "HP:0009777", + "Absent thumbs": "HP:0009777", + "Aplasia of the thumb": "HP:0009777", + "Thumb aplasia": "HP:0009777", + "Short thumb": "HP:0009778", + "Hypoplastic thumb": "HP:0009778", + "Hypoplastic thumbs": "HP:0009778", + "Hypoplastic/small thumb": "HP:0009778", + "Short thumbs": "HP:0009778", + "Small thumbs": "HP:0009778", + "Thumb brachydactyly": "HP:0009778", + "Thumb hypoplasia": "HP:0009778", + "3-4 toe syndactyly": "HP:0009779", + "Webbed 3rd-4th toes": "HP:0009779", + "syndactyly of 3rd - 4th toes": "HP:0009779", + "Iliac horns": "HP:0009780", + "Lester's sign": "HP:0009781", + "Aplasia/Hypoplasia of the biceps": "HP:0009782", + "Absent/small biceps": "HP:0009782", + "Absent/underdeveloped biceps": "HP:0009782", + "Biceps aplasia": "HP:0009783", + "Absent biceps": "HP:0009783", + "Aplasia/Hypoplasia of the triceps": "HP:0009784", + "Absent/small triceps": "HP:0009784", + "Absent/underdeveloped triceps": "HP:0009784", + "Triceps aplasia": "HP:0009785", + "Absent triceps": "HP:0009785", + "Aplasia/Hypoplasia of the musculature of the thigh": "HP:0009786", + "Absent/small thigh muscles": "HP:0009786", + "Absent/underdeveloped thigh muscles": "HP:0009786", + "Aplasia/Hypoplasia of the quadriceps": "HP:0009787", + "Absent/small quadriceps": "HP:0009787", + "Absent/underdeveloped quadriceps": "HP:0009787", + "Quadriceps aplasia": "HP:0009788", + "Absent quads": "HP:0009788", + "Perianal abscess": "HP:0009789", + "Hemisacrum": "HP:0009790", + "Bifid sacrum": "HP:0009791", + "Teratoma": "HP:0009792", + "Presacral teratoma": "HP:0009793", + "Altman type IV sacrococcygeal teratoma": "HP:0009793", + "Retrorectal teratoma": "HP:0009793", + "Branchial anomaly": "HP:0009794", + "Abnormality of branchial apparatus": "HP:0009794", + "Abnormality of branchial arch": "HP:0009794", + "Branchial abnormality": "HP:0009794", + "Branchial anomalies": "HP:0009794", + "Branchial fistula": "HP:0009795", + "Branchial cleft fistula": "HP:0009795", + "Branchial cyst": "HP:0009796", + "Branchial cysts": "HP:0009796", + "Branchial cleft cyst": "HP:0009796", + "Cholesteatoma": "HP:0009797", + "Euthyroid goiter": "HP:0009798", + "Euthyroid goitre": "HP:0009798", + "Supernumerary spleens": "HP:0009799", + "Extra spleen": "HP:0009799", + "Maternal diabetes": "HP:0009800", + "gestational diabetes": "HP:0009800", + "maternal hyperglycemia": "HP:0009800", + "Aplasia of the phalanges of the hand": "HP:0009802", + "Absent finger bone of the hand": "HP:0009802", + "Short phalanx of finger": "HP:0009803", + "Hypoplastic phalanges": "HP:0009803", + "Hypoplastic phalanges of hands": "HP:0009803", + "Hypoplastic/small phalanges of the hand": "HP:0009803", + "Phalangeal hypoplasia": "HP:0009803", + "Rudimentary phalanges": "HP:0009803", + "Short finger bones": "HP:0009803", + "Short phalanges": "HP:0009803", + "Shortened phalanges": "HP:0009803", + "Tooth agenesis": "HP:0009804", + "Decreased tooth count": "HP:0009804", + "Dental agenesis": "HP:0009804", + "Failure of development of some teeth": "HP:0009804", + "Reduced number of teeth": "HP:0009804", + "Teeth, agenesis": "HP:0009804", + "Decreased number of teeth": "HP:0009804", + "Fewer teeth than normal": "HP:0009804", + "Missing some teeth": "HP:0009804", + "Low-output congestive heart failure": "HP:0009805", + "Nephrogenic diabetes insipidus": "HP:0009806", + "Anomaly of the upper limb diaphyses": "HP:0009808", + "Abnormality involving the diaphyses of the upper limbs": "HP:0009808", + "Abnormality of shaft of long bone of the upper limbs": "HP:0009808", + "Diaphyseal abnormality of the upper limbs": "HP:0009808", + "Abnormal upper limb metaphysis morphology": "HP:0009809", + "Abnormality of the wide portion of upper limb bone": "HP:0009809", + "Abnormality of upper limb metaphysis": "HP:0009809", + "Metaphyseal abnormality of the upper limbs": "HP:0009809", + "Abnormality of upper limb joint": "HP:0009810", + "Abnormality of the joints of the upper limbs": "HP:0009810", + "Abnormality of the elbow": "HP:0009811", + "Abnormality of the elbows": "HP:0009811", + "Amelia involving the upper limbs": "HP:0009812", + "Upper limb phocomelia": "HP:0009813", + "Upper limb peromelia": "HP:0009814", + "Aplasia/hypoplasia of the extremities": "HP:0009815", + "Absent/small extremities": "HP:0009815", + "Absent/underdeveloped extremities": "HP:0009815", + "Short or absent limbs": "HP:0009815", + "Shortened limbs": "HP:0009815", + "Lower limb undergrowth": "HP:0009816", + "Hypoplasia involving bones of the lower limbs": "HP:0009816", + "Hypoplasia of the lower limbs": "HP:0009816", + "Underdeveloped lower limb bones": "HP:0009816", + "Aplasia involving bones of the lower limbs": "HP:0009817", + "Absent bones of the lower limbs": "HP:0009817", + "Amelia involving the lower limbs": "HP:0009818", + "Lower limb phocomelia": "HP:0009819", + "Lower limb peromelia": "HP:0009820", + "Forearm undergrowth": "HP:0009821", + "Hypoplasia involving forearm bones": "HP:0009821", + "Short forearm bones": "HP:0009821", + "Short forearms": "HP:0009821", + "Shortened forearm": "HP:0009821", + "Aplasia involving forearm bones": "HP:0009822", + "Absent forearm bones": "HP:0009822", + "Aplasia involving bones of the upper limbs": "HP:0009823", + "Absent bones of the upper limbs": "HP:0009823", + "Upper limb undergrowth": "HP:0009824", + "Hypoplasia involving bones of the upper limbs": "HP:0009824", + "Short arms": "HP:0009824", + "Shortening of the arms": "HP:0009824", + "Aplasia involving bones of the extremities": "HP:0009825", + "Absent bones of the extremities": "HP:0009825", + "Limb undergrowth": "HP:0009826", + "Hypoplasia involving bones of the extremities": "HP:0009826", + "Short limb": "HP:0009826", + "Short limbs": "HP:0009826", + "limb shortening": "HP:0009826", + "Amelia": "HP:0009827", + "Peromelia": "HP:0009828", + "Phocomelia": "HP:0009829", + "Peripheral neuropathy": "HP:0009830", + "Peripheral nerve damage": "HP:0009830", + "Peripheral neuritis": "HP:0009830", + "Neuropathy": "HP:0009830", + "Mononeuropathy": "HP:0009831", + "Single damaged nerve": "HP:0009831", + "Abnormal distal phalanx morphology of finger": "HP:0009832", + "Abnormal terminal phalanges of the hand": "HP:0009832", + "Abnormality of the distal phalanges of the hand": "HP:0009832", + "Abnormality of the distal phalanx of finger": "HP:0009832", + "Abnormality of the outermost finger bone": "HP:0009832", + "Abnormal middle phalanx morphology of the hand": "HP:0009833", + "Abnormality of the middle finger bones of the hand": "HP:0009833", + "Abnormality of the middle phalanges of the hand": "HP:0009833", + "Abnormal proximal phalanx morphology of the hand": "HP:0009834", + "Abnormality of the innermost finger bones of the hand": "HP:0009834", + "Abnormality of the proximal phalanges of the hand": "HP:0009834", + "Aplasia/Hypoplasia of the distal phalanges of the hand": "HP:0009835", + "Absent/hypoplastic distal phalanges": "HP:0009835", + "Absent/small outermost finger bone of the hand": "HP:0009835", + "Absent/underdeveloped outermost finger bone of the hand": "HP:0009835", + "Aplasia/Hypoplasia of the distal phalanges": "HP:0009835", + "Aplastic/hypoplastic distal phalanges": "HP:0009835", + "Hypoplastic to absent terminal phalanges": "HP:0009835", + "Hypoplastic/aplastic distal phalanges": "HP:0009835", + "Hypoplastic/aplastic distal phalanx": "HP:0009835", + "Small or absent distal phalanges": "HP:0009835", + "Broad distal phalanx of finger": "HP:0009836", + "Broad distal phalanges": "HP:0009836", + "Broad distal phalanges of the hand": "HP:0009836", + "Broad distal phalanx": "HP:0009836", + "Broad outermost finger bone": "HP:0009836", + "Broad terminal phalanges": "HP:0009836", + "Broad, square ends of distal phalanges": "HP:0009836", + "Spatulate terminal phalanges": "HP:0009836", + "Bullet-shaped distal phalanges of the hand": "HP:0009837", + "Bullet-shaped outermost finger bone of the hand": "HP:0009837", + "Curved distal phalanges of the hand": "HP:0009838", + "Curved outermost finger bone of the hand": "HP:0009838", + "Osteolytic defects of the distal phalanges of the hand": "HP:0009839", + "Acro-osteolysis of distal phalanges": "HP:0009839", + "Acroosteolysis of distal phalanges": "HP:0009839", + "Osteolytic defects of the outermost finger bone of the hand": "HP:0009839", + "Patchy sclerosis of distal phalanx of finger": "HP:0009840", + "Patchy sclerosis of the distal phalanges of the hand": "HP:0009840", + "Uneven increase in bone density in outermost finger bone": "HP:0009840", + "Aplasia/Hypoplasia of the middle phalanges of the hand": "HP:0009843", + "Absent/hypoplastic middle phalanges": "HP:0009843", + "Absent/small middle finger bone of the hand": "HP:0009843", + "Absent/underdeveloped middle finger bone of the hand": "HP:0009843", + "Aplasia/hypoplasia of middle phalanges": "HP:0009843", + "Aplastic/hypoplastic middle phalanges": "HP:0009843", + "Hypoplastic/aplastic middle phalanx": "HP:0009843", + "Short to absent middle phalanges": "HP:0009843", + "Short/absent middle phalanges": "HP:0009843", + "Broad middle phalanx of finger": "HP:0009844", + "Broad middle finger bones": "HP:0009844", + "Broad middle phalanges of finger": "HP:0009844", + "Broad middle phalanges of the hand": "HP:0009844", + "Bullet-shaped middle phalanges of the hand": "HP:0009845", + "Curved middle phalanges of the hand": "HP:0009846", + "Curved middle finger bonds of the hand": "HP:0009846", + "Osteolytic defects of the middle phalanges of the hand": "HP:0009847", + "Patchy sclerosis of middle phalanx of finger": "HP:0009848", + "Patchy sclerosis of the middle phalanges of the hand": "HP:0009848", + "Uneven increase in bone density in the middle finger bones of the hand": "HP:0009848", + "Symphalangism of middle phalanx of finger": "HP:0009849", + "Fused middle finger bone": "HP:0009849", + "Triangular shaped middle phalanges of the hand": "HP:0009850", + "Triangular shaped middle finger bones of the hand": "HP:0009850", + "Aplasia/Hypoplasia of the proximal phalanges of the hand": "HP:0009851", + "Absent/small innermost finger bones of the hand": "HP:0009851", + "Absent/underdeveloped innermost finger bones of the hand": "HP:0009851", + "Broad proximal phalanges of the hand": "HP:0009852", + "Broad innermost finger bones of the hand": "HP:0009852", + "Wide innermost finger bones of the hand": "HP:0009852", + "Bullet-shaped proximal phalanges of the hand": "HP:0009853", + "Bullet-shaped innermost finger bones of the hand": "HP:0009853", + "Curved proximal phalanges of the hand": "HP:0009854", + "Curved innermost finger bones of the hand": "HP:0009854", + "Osteolytic defects of the proximal phalanges of the hand": "HP:0009855", + "Proximal phalanges osteolysis": "HP:0009855", + "Patchy sclerosis of proximal phalanx of finger": "HP:0009856", + "Patchy sclerosis of the proximal phalanges of the hand": "HP:0009856", + "Uneven increase in bone density in innermost finger bone": "HP:0009856", + "Symphalangism affecting the proximal phalanges of the hand": "HP:0009857", + "Fused innermost hand bones": "HP:0009857", + "Triangular shaped proximal phalanges of the hand": "HP:0009858", + "Triangular shaped innermost finger bone": "HP:0009858", + "Triangular shaped distal phalanges of the hand": "HP:0009875", + "Triangular shaped outermost bone of the hand": "HP:0009875", + "Cerebellar ataxia associated with quadrupedal gait": "HP:0009878", + "Simplified gyral pattern": "HP:0009879", + "Cortical gyral simplification": "HP:0009879", + "Broad distal phalanges of all fingers": "HP:0009880", + "Broad outermost hand bones": "HP:0009880", + "Aplasia of the distal phalanges of the hand": "HP:0009881", + "Absent distal phalanges of the hand": "HP:0009881", + "Absent outermost hand bone": "HP:0009881", + "Aplasia of outermost hand bone": "HP:0009881", + "Short distal phalanx of finger": "HP:0009882", + "Brachytelophalangy": "HP:0009882", + "Distal phalangeal hypoplasia": "HP:0009882", + "Hypoplasia of the distal phalanges": "HP:0009882", + "Hypoplasia of the distal phalanges of the hand": "HP:0009882", + "Hypoplastic distal phalanges": "HP:0009882", + "Hypoplastic terminal phalanges": "HP:0009882", + "Short distal phalanges": "HP:0009882", + "Short outermost finger bone": "HP:0009882", + "Terminal phalangeal hypoplasia of hand": "HP:0009882", + "Duplication of the distal phalanx of hand": "HP:0009883", + "Bifid terminal phalanges": "HP:0009883", + "Duplication of the outermost bone of hand": "HP:0009883", + "Notched outermost bone of hand": "HP:0009883", + "Partial/complete duplication of the distal phalanges of the hand": "HP:0009883", + "Tapered distal phalanges of finger": "HP:0009884", + "Tapered distal phalanges": "HP:0009884", + "Tapered distal phalanges of the hand": "HP:0009884", + "Tapered outermost finger bone": "HP:0009884", + "obsolete Prenatal short stature": "HP:0009885", + "Trichorrhexis nodosa": "HP:0009886", + "Abnormality of hair pigmentation": "HP:0009887", + "Abnormality of hair color": "HP:0009887", + "Abnormality of hair colour": "HP:0009887", + "Abnormality of secondary sexual hair": "HP:0009888", + "Localized hirsutism": "HP:0009889", + "Localised abnormal hair growth": "HP:0009889", + "Localised hirsutism": "HP:0009889", + "Localized abnormal hair growth": "HP:0009889", + "High anterior hairline": "HP:0009890", + "High frontal hairline": "HP:0009890", + "Underdeveloped supraorbital ridges": "HP:0009891", + "Depressed supraorbital margins": "HP:0009891", + "Depressed supraorbital ridge": "HP:0009891", + "Flat supraorbital margins": "HP:0009891", + "Flat supraorbital ridge": "HP:0009891", + "Flattened bony protrusion above eyes": "HP:0009891", + "Hypoplasia of supraorbital margins": "HP:0009891", + "Hypoplasia of the supraorbital ridges": "HP:0009891", + "Hypoplastic supraorbital ridges": "HP:0009891", + "Shallow orbital ridges": "HP:0009891", + "Shallow supraorbital ridge": "HP:0009891", + "Underdeveloped brows": "HP:0009891", + "Anotia": "HP:0009892", + "Absent ear": "HP:0009892", + "Absent ears": "HP:0009892", + "Congenital absence of external ear": "HP:0009892", + "Telangiectasia of the ear": "HP:0009893", + "Thickened ears": "HP:0009894", + "Abnormality of the crus of the helix": "HP:0009895", + "Abnormality of the crus of the ear": "HP:0009895", + "Abnormal antitragus morphology": "HP:0009896", + "Horizontal crus of helix": "HP:0009897", + "Helix, crus, horizontal": "HP:0009897", + "Horizontal orientation of the crus of helix": "HP:0009897", + "Horizontal orientation of the ear crus": "HP:0009897", + "Railroad track ears": "HP:0009897", + "Railroad track sign": "HP:0009897", + "Underdeveloped crus of the helix": "HP:0009898", + "Hypoplasia of the crus of the ear": "HP:0009898", + "Underdeveloped crus of the ear": "HP:0009898", + "Prominent crus of helix": "HP:0009899", + "Abnormal prominence of the crus of the ear": "HP:0009899", + "Helix, crus, prominent": "HP:0009899", + "Hyperplastic helix crus": "HP:0009899", + "Hypertrophic helix crus": "HP:0009899", + "Unilateral deafness": "HP:0009900", + "Deafness in one ear": "HP:0009900", + "Deafness, unilateral": "HP:0009900", + "Crumpled ear": "HP:0009901", + "Cauliflower ear": "HP:0009901", + "Cleft helix": "HP:0009902", + "Notched helix": "HP:0009902", + "Notching of the ear helix": "HP:0009902", + "Conjunctival nodule": "HP:0009903", + "Prominent ear helix": "HP:0009904", + "Large helix": "HP:0009904", + "Thin ear helix": "HP:0009905", + "Aplasia/Hypoplasia of the earlobes": "HP:0009906", + "Absent/small ear lobes": "HP:0009906", + "Absent/underdeveloped ear lobes": "HP:0009906", + "Attached earlobe": "HP:0009907", + "Adherent earlobe": "HP:0009907", + "Anterior creases of earlobe": "HP:0009908", + "Earlobe crease": "HP:0009908", + "Transverse earlobe creases": "HP:0009908", + "Uplifted earlobe": "HP:0009909", + "Fleshy upturned lobules": "HP:0009909", + "Lobe, uplifted": "HP:0009909", + "Upturned earlobe": "HP:0009909", + "Uplifted earlobes": "HP:0009909", + "Upturned earlobes": "HP:0009909", + "Aplasia of the middle ear ossicles": "HP:0009910", + "Absent middle ear bones": "HP:0009910", + "Absent middle ear ossicles": "HP:0009910", + "Abnormal temporal bone morphology": "HP:0009911", + "Abnormality of the temporal bone": "HP:0009911", + "Abnormal tragus morphology": "HP:0009912", + "Abnormality of the tragus": "HP:0009912", + "Aplasia/Hypoplasia of the tragus": "HP:0009913", + "Absent/small tragus": "HP:0009913", + "Absent/underdeveloped tragus": "HP:0009913", + "Cyclopia": "HP:0009914", + "Cyclops eye": "HP:0009914", + "Single central eye": "HP:0009914", + "Corneal asymmetry": "HP:0009915", + "Asymmetry of the corneas": "HP:0009915", + "Anisocoria": "HP:0009916", + "Asymmetric pupil sizes": "HP:0009916", + "Asymmetry of the pupils": "HP:0009916", + "Unequal pupil dilatation": "HP:0009916", + "Unequal pupil size": "HP:0009916", + "Persistent pupillary membrane": "HP:0009917", + "Ectopia pupillae": "HP:0009918", + "Corectopia": "HP:0009918", + "Displaced pupil": "HP:0009918", + "Retinoblastoma": "HP:0009919", + "Retina tumor": "HP:0009919", + "Retina tumour": "HP:0009919", + "Nevus of Ota": "HP:0009920", + "Congenital melanosis bulbi": "HP:0009920", + "Mongolian spot": "HP:0009920", + "Naevus fuscoceruleus ophthalmomaxillaris": "HP:0009920", + "Nevus fuscoceruleus ophthalmomaxillaris": "HP:0009920", + "Nevus of Ito": "HP:0009920", + "Oculodermal melanocytosis": "HP:0009920", + "Duane anomaly": "HP:0009921", + "Limited eye motility from Duane anomaly": "HP:0009921", + "Limited eye movement from Duane anomaly": "HP:0009921", + "Globe retraction and deviation on adduction": "HP:0009921", + "Vascular remnant arising from the disk": "HP:0009922", + "Persistence of the hyaloid artery": "HP:0009922", + "Persistent hyaloid artery": "HP:0009922", + "Aplasia/Hypoplasia involving the nose": "HP:0009924", + "Decreased nasal size": "HP:0009924", + "Decreased size of nose": "HP:0009924", + "Hypoplasia of the nose": "HP:0009924", + "Hypotrophic nose": "HP:0009924", + "Epiphora": "HP:0009926", + "Increased lacrimation": "HP:0009926", + "Increased tears": "HP:0009926", + "Tearing": "HP:0009926", + "Watery eyes": "HP:0009926", + "Aplasia of the nose": "HP:0009927", + "Absent nose": "HP:0009927", + "Arrhinia": "HP:0009927", + "Failure of development of nose": "HP:0009927", + "Nasal underdevelopment": "HP:0009927", + "Underdevelopment of nose": "HP:0009927", + "Missing nose": "HP:0009927", + "Thick nasal alae": "HP:0009928", + "Ala nasi, thick": "HP:0009928", + "Thickening of the alae nasi": "HP:0009928", + "Abnormal columella morphology": "HP:0009929", + "Abnormality of the columella": "HP:0009929", + "Anomaly of the columella": "HP:0009929", + "Deformity of the columella": "HP:0009929", + "Malformation of the columella": "HP:0009929", + "Asymmetry of the nares": "HP:0009930", + "Asymmetry of nostrils": "HP:0009930", + "Crooked nostrils": "HP:0009930", + "Unequal nostril shape": "HP:0009930", + "Unequal nostril size": "HP:0009930", + "Uneven nostril shape": "HP:0009930", + "Uneven nostril size": "HP:0009930", + "Enlarged naris": "HP:0009931", + "Broad nostril": "HP:0009931", + "Dilated nares": "HP:0009931", + "Dilated nostril": "HP:0009931", + "Enlarged nares": "HP:0009931", + "Enlarged nostril": "HP:0009931", + "Increased diameter of nares": "HP:0009931", + "Increased diameter of nostril": "HP:0009931", + "Increased width of nares": "HP:0009931", + "Large nares": "HP:0009931", + "Naris, broad": "HP:0009931", + "Naris, enlarged": "HP:0009931", + "Wide nares": "HP:0009931", + "Wide nostril": "HP:0009931", + "Single naris": "HP:0009932", + "Mono nostril": "HP:0009932", + "One nostril": "HP:0009932", + "Single nare": "HP:0009932", + "Single nostril": "HP:0009932", + "Narrow naris": "HP:0009933", + "Naris, narrow": "HP:0009933", + "Naris, slit-like": "HP:0009933", + "Narrow nares": "HP:0009933", + "Narrow nostrils": "HP:0009933", + "Slit-like nostrils": "HP:0009933", + "Small nostrils": "HP:0009933", + "Thin nares": "HP:0009933", + "Thin nostrils": "HP:0009933", + "Collapsed nostrils": "HP:0009933", + "Supernumerary naris": "HP:0009934", + "Accessory nares": "HP:0009934", + "Accessory nostril": "HP:0009934", + "Extra nostril": "HP:0009934", + "Supernumerary nares": "HP:0009934", + "Supernumerary nostrils": "HP:0009934", + "Aplasia/Hypoplasia of the nasal septum": "HP:0009935", + "Ageneis of nasal septum": "HP:0009935", + "Underdevelopment of nasal septum": "HP:0009935", + "Failure of development of nasal septum": "HP:0009935", + "Narrow nasal septum": "HP:0009936", + "Decreased width of nasal septum": "HP:0009936", + "Narrow septum of nose": "HP:0009936", + "Thin nasal septum": "HP:0009936", + "Thin septum of nose": "HP:0009936", + "Facial hirsutism": "HP:0009937", + "Excessive face hair": "HP:0009937", + "Sunken cheeks": "HP:0009938", + "Depressed cheeks": "HP:0009938", + "Hollow cheeks": "HP:0009938", + "Mandibular aplasia": "HP:0009939", + "Agnathia": "HP:0009939", + "Absence of lower jaw": "HP:0009939", + "Absence of lower jaw bone": "HP:0009939", + "Absence of mandible": "HP:0009939", + "Absent mandible": "HP:0009939", + "Agenesis of the mandible": "HP:0009939", + "Aplasia of the lower jaw bone": "HP:0009939", + "Failure of development of lower jaw": "HP:0009939", + "Failure of development of mandible": "HP:0009939", + "Missing lower jaw": "HP:0009939", + "Absence of lower jaw bones": "HP:0009939", + "Asymmetry of the mandible": "HP:0009940", + "Tilted mandible": "HP:0009940", + "Asymmetry of lower jaw": "HP:0009940", + "Canted lower jaw": "HP:0009940", + "Canted mandible": "HP:0009940", + "Crooked lower jaw": "HP:0009940", + "Deviation of lower jaw": "HP:0009940", + "Deviation of mandible": "HP:0009940", + "Lower jaw shifted to one side": "HP:0009940", + "Tilted lower jaw": "HP:0009940", + "Uneven lower jaw": "HP:0009940", + "Uneven mandible": "HP:0009940", + "Deviation of the lower jaw": "HP:0009940", + "Deviation of the mandible": "HP:0009940", + "Asymmetry of the mouth": "HP:0009941", + "Canted mouth": "HP:0009941", + "Crooked mouth": "HP:0009941", + "Tilted mouth": "HP:0009941", + "Uneven mouth": "HP:0009941", + "Asymmetry of oral cavity": "HP:0009941", + "Duplication of thumb phalanx": "HP:0009942", + "Complete/partial duplication of phalanges of the thumb": "HP:0009942", + "Duplicated thumbs": "HP:0009942", + "Duplication of phalanx of thumb": "HP:0009942", + "Duplicated thumb": "HP:0009942", + "Complete duplication of thumb phalanx": "HP:0009943", + "Complete duplication of the phalanges of the thumb": "HP:0009943", + "Complete duplication of thumb bones": "HP:0009943", + "Digitalization of thumb": "HP:0009943", + "Digitalization of thumbs": "HP:0009943", + "Partial duplication of thumb phalanx": "HP:0009944", + "Bifid thumb": "HP:0009944", + "Notching of thumb phalanges": "HP:0009944", + "Partial duplication of the phalanges of the thumb": "HP:0009944", + "Partial duplication of the thumb bones": "HP:0009944", + "Duplication of phalanx of 2nd finger": "HP:0009945", + "Duplication of the bones of index finger": "HP:0009945", + "Partial/complete duplication of phalanges of the 2nd finger": "HP:0009945", + "Polydactyly affecting the 2nd finger": "HP:0009946", + "Extra index finger": "HP:0009946", + "Duplication of the proximal phalanx of the 2nd finger": "HP:0009947", + "Duplication of the proximal bone of the index finger": "HP:0009947", + "Partial/complete duplication of the proximal phalanx of the 2nd finger": "HP:0009947", + "Duplication of the distal phalanx of the 2nd finger": "HP:0009948", + "Partial/complete duplication of the distal phalanx of the 2nd finger": "HP:0009948", + "Partial/complete duplication of the outermost bone of the index finger": "HP:0009948", + "Duplication of the middle phalanx of the 2nd finger": "HP:0009949", + "Partial/complete duplication of the middle bone of the index finger": "HP:0009949", + "Partial/complete duplication of the middle phalanx of the 2nd finger": "HP:0009949", + "Complete duplication of the distal phalanx of the 2nd finger": "HP:0009950", + "Complete duplication of the outermost bone of the index finger": "HP:0009950", + "Partial duplication of the distal phalanx of the 2nd finger": "HP:0009951", + "Bifid terminal phalanx of the 2nd finger": "HP:0009951", + "Notched outermost bone of the index finger": "HP:0009951", + "Partial duplication of the outermost bone of the 2nd finger": "HP:0009951", + "Complete duplication of the middle phalanx of the 2nd finger": "HP:0009952", + "Complete duplication of the middle bone of the index finger": "HP:0009952", + "Partial duplication of the middle phalanx of the 2nd finger": "HP:0009953", + "Partial duplication of the middle bone of the index finger": "HP:0009953", + "Complete duplication of the proximal phalanx of the 2nd finger": "HP:0009954", + "Complete duplication of the proximal bone of the index finger": "HP:0009954", + "Partial duplication of the proximal phalanx of the 2nd finger": "HP:0009955", + "Partial duplication of the proximal bones of the index finger": "HP:0009955", + "Partial duplication of the phalanges of the 2nd finger": "HP:0009956", + "Partial duplication of the bones of the index finger": "HP:0009956", + "Complete duplication of the phalanges of the 2nd finger": "HP:0009957", + "Complete duplication of the bones of the index finger": "HP:0009957", + "Polydactyly affecting the 3rd finger": "HP:0009958", + "Extra middle finger": "HP:0009958", + "Duplication of phalanx of 3rd finger": "HP:0009959", + "Duplication of middle finger bone": "HP:0009959", + "Partial/complete duplication of phalanges of the 3rd finger": "HP:0009959", + "Complete duplication of the phalanges of the 3rd finger": "HP:0009960", + "Complete duplication of middle finger bones": "HP:0009960", + "Partial duplication of the phalanges of the 3rd finger": "HP:0009961", + "Partial duplication of middle finger bones": "HP:0009961", + "Duplication of the distal phalanx of the 3rd finger": "HP:0009962", + "Partial/complete duplication of the distal phalanx of the 3rd finger": "HP:0009962", + "Partial/complete duplication of the outermost bone of the middle finger": "HP:0009962", + "Duplication of the middle phalanx of the 3rd finger": "HP:0009963", + "Duplication of the middle bone of the middle finger": "HP:0009963", + "Partial/complete duplication of the middle phalanx of the 3rd finger": "HP:0009963", + "Duplication of the proximal phalanx of the 3rd finger": "HP:0009964", + "Duplication of the proximal bone of the middle finger": "HP:0009964", + "Partial/complete duplication of the proximal phalanx of the 3rd finger": "HP:0009964", + "Complete duplication of the distal phalanx of the 3rd finger": "HP:0009965", + "Complete duplication of the outermost bone of the 3rd finger": "HP:0009965", + "Complete duplication of the middle phalanx of the 3rd finger": "HP:0009966", + "Complete duplication of the middle bone of the middle finger": "HP:0009966", + "Complete duplication of the proximal phalanx of the 3rd finger": "HP:0009967", + "Complete duplication of the innermost bone of the 3rd finger": "HP:0009967", + "Partial duplication of the distal phalanx of the 3rd finger": "HP:0009968", + "Bifid terminal phalanx of the 3rd finger": "HP:0009968", + "Notched outermost bone of the middle finger": "HP:0009968", + "Partial duplication of the outermost bone of the middle finger": "HP:0009968", + "Partial duplication of the middle phalanx of the 3rd finger": "HP:0009969", + "Partial duplication of the middle bone of the 3rd finger": "HP:0009969", + "Partial duplication of the proximal phalanx of the 3rd finger": "HP:0009970", + "Partial duplication of the proximal bone of the middle finger": "HP:0009970", + "Polydactyly affecting the 4th finger": "HP:0009971", + "Extra ring finger": "HP:0009971", + "Duplication of phalanx of 4th finger": "HP:0009972", + "Duplication of bones of the ring finger": "HP:0009972", + "Partial/complete duplication of phalanges of the 4th finger": "HP:0009972", + "Complete duplication of the phalanges of the 4th finger": "HP:0009973", + "Complete duplication of the bones of the ring finger": "HP:0009973", + "Partial duplication of the phalanges of the 4th finger": "HP:0009974", + "Partial duplication of the bones of the ring finger": "HP:0009974", + "Duplication of the distal phalanx of the 4th finger": "HP:0009975", + "Partial/complete duplication of the distal phalanx of the 4th finger": "HP:0009975", + "Partial/complete duplication of the outermost bone of the ring finger": "HP:0009975", + "Duplication of the middle phalanx of the 4th finger": "HP:0009976", + "Partial/complete duplication of the middle bone of the ring finger": "HP:0009976", + "Partial/complete duplication of the middle phalanx of the 4th finger": "HP:0009976", + "Duplication of the proximal phalanx of the 4th finger": "HP:0009977", + "Duplication of the proximal bone of the ring finger": "HP:0009977", + "Partial/complete duplication of the proximal phalanx of the 4th finger": "HP:0009977", + "Complete duplication of the distal phalanx of the 4th finger": "HP:0009978", + "Complete duplication of the outermost bone of the ring finger": "HP:0009978", + "Complete duplication of the middle phalanx of the 4th finger": "HP:0009979", + "Complete duplication of the middle bone of the ring finger": "HP:0009979", + "Complete duplication of the proximal phalanx of the 4th finger": "HP:0009980", + "Complete duplication of the proximal bone of the ring finger": "HP:0009980", + "Partial duplication of the distal phalanx of the 4th finger": "HP:0009981", + "Bifid terminal phalanx of the 4th finger": "HP:0009981", + "Notched outermost bone of the ring finger": "HP:0009981", + "Partial duplication of the outermost bone of the ring finger": "HP:0009981", + "Partial duplication of the middle phalanx of the 4th finger": "HP:0009982", + "Partial duplication of the middle bone of the ring finger": "HP:0009982", + "Partial duplication of the proximal phalanx of the 4th finger": "HP:0009983", + "Partial duplication of the innermost bone of the ring finger": "HP:0009983", + "Duplication of phalanx of 5th finger": "HP:0009985", + "Partial/complete duplication of little finger bone": "HP:0009985", + "Partial/complete duplication of phalanges of the 5th finger": "HP:0009985", + "Partial/complete duplication of pinkie finger bone": "HP:0009985", + "Partial/complete duplication of pinky finger bone": "HP:0009985", + "Complete duplication of the phalanges of the 5th finger": "HP:0009986", + "Complete duplication of the little finger bone": "HP:0009986", + "Complete duplication of the pinkie finger bone": "HP:0009986", + "Complete duplication of the pinky finger bone": "HP:0009986", + "Partial duplication of the phalanges of the 5th finger": "HP:0009987", + "Partial duplication of the little finger bone": "HP:0009987", + "Partial duplication of the pinkie finger bone": "HP:0009987", + "Partial duplication of the pinky finger bone": "HP:0009987", + "Duplication of the distal phalanx of the 5th finger": "HP:0009988", + "Duplication of the outermost little finger bone": "HP:0009988", + "Duplication of the outermost pinkie finger bone": "HP:0009988", + "Duplication of the outermost pinky finger bone": "HP:0009988", + "Partial/complete duplication of the distal phalanx of the 5th finger": "HP:0009988", + "Duplication of the middle phalanx of the 5th finger": "HP:0009989", + "Duplication of the middle little finger bone": "HP:0009989", + "Duplication of the middle pinkie finger bone": "HP:0009989", + "Duplication of the middle pinky finger bone": "HP:0009989", + "Partial/complete duplication of the middle phalanx of the 5th finger": "HP:0009989", + "Duplication of the proximal phalanx of the 5th finger": "HP:0009990", + "Duplication of the innermost little finger bone": "HP:0009990", + "Duplication of the innermost pinkie finger bone": "HP:0009990", + "Duplication of the innermost pinky finger bone": "HP:0009990", + "Partial/complete duplication of the proximal phalanx of the 5th finger": "HP:0009990", + "Complete duplication of the distal phalanx of the 5th finger": "HP:0009991", + "Complete duplication of the outermost little finger bone": "HP:0009991", + "Complete duplication of the outermost pinkie finger bone": "HP:0009991", + "Complete duplication of the outermost pinky finger bone": "HP:0009991", + "Complete duplication of the middle phalanx of the 5th finger": "HP:0009992", + "Complete duplication of the middle little finger bone": "HP:0009992", + "Complete duplication of the middle pinkie finger bone": "HP:0009992", + "Complete duplication of the middle pinky finger bone": "HP:0009992", + "Complete duplication of the proximal phalanx of the 5th finger": "HP:0009993", + "Complete duplication of the innermost little finger bone": "HP:0009993", + "Complete duplication of the innermost pinkie finger bone": "HP:0009993", + "Complete duplication of the innermost pinky finger bone": "HP:0009993", + "Partial duplication of the distal phalanx of the 5th finger": "HP:0009994", + "Bifid terminal phalanx of the 5th finger": "HP:0009994", + "Notched outermost pinky finger bone": "HP:0009994", + "Partial duplication of outermost little finger bone": "HP:0009994", + "Partial duplication of outermost pinkie finger bone": "HP:0009994", + "Partial duplication of outermost pinky finger bone": "HP:0009994", + "Partial duplication of the middle phalanx of the 5th finger": "HP:0009995", + "Partial duplication of the middle little finger bone": "HP:0009995", + "Partial duplication of the middle pinkie finger bone": "HP:0009995", + "Partial duplication of the middle pinky finger bone": "HP:0009995", + "Partial duplication of the proximal phalanx of the 5th finger": "HP:0009996", + "Partial duplication of the innermost little finger bone": "HP:0009996", + "Partial duplication of the innermost pinkie finger bone": "HP:0009996", + "Partial duplication of the innermost pinky finger bone": "HP:0009996", + "Duplication of phalanx of hand": "HP:0009997", + "Duplication of finger bones": "HP:0009997", + "Complete duplication of phalanx of hand": "HP:0009998", + "Complete duplication of hand bones": "HP:0009998", + "Partial duplication of the phalanx of hand": "HP:0009999", + "Partial duplication of hand bones": "HP:0009999", + "Complete duplication of the proximal phalanges of the hand": "HP:0010000", + "Complete duplication of the innermost bones of the hand": "HP:0010000", + "Complete duplication of the distal phalanges of the hand": "HP:0010001", + "Complete duplication of the outermost bones of the hand": "HP:0010001", + "Complete duplication of the middle phalanges of the hand": "HP:0010002", + "Complete duplication of the middle bones of the hand": "HP:0010002", + "Partial duplication of the proximal phalanges of the hand": "HP:0010003", + "Partial duplication of the innermost bones of the hand": "HP:0010003", + "Partial duplication of the distal phalanges of the hand": "HP:0010004", + "Bifid terminal phalanges of the hand": "HP:0010004", + "Partial duplication of the outermost bone of the hand": "HP:0010004", + "Partial duplication of the middle phalanges of the hand": "HP:0010005", + "Partial duplication of the middle bones of hand": "HP:0010005", + "Duplication of the proximal phalanx of hand": "HP:0010006", + "Duplication of the innermost bones of hand": "HP:0010006", + "Partial/complete duplication of the proximal phalanges of the hand": "HP:0010006", + "Duplication of the middle phalanx of hand": "HP:0010008", + "Duplication of the middle bones of hand": "HP:0010008", + "Partial/complete duplication of the middle phalanges of the hand": "HP:0010008", + "Abnormal 1st metacarpal morphology": "HP:0010009", + "Abnormality of the 1st long bone of hand": "HP:0010009", + "Abnormality of the 1st metacarpal": "HP:0010009", + "Abnormal 2nd metacarpal morphology": "HP:0010010", + "Abnormality of the 2nd long bone of hand": "HP:0010010", + "Abnormality of the 2nd metacarpal": "HP:0010010", + "Abnormal 3rd metacarpal morphology": "HP:0010011", + "Abnormality of the 3rd long bone of hand": "HP:0010011", + "Abnormality of the 3rd metacarpal": "HP:0010011", + "Abnormal 4th metacarpal morphology": "HP:0010012", + "Abnormality of the 4th long bone of hand": "HP:0010012", + "Abnormality of the 4th metacarpal": "HP:0010012", + "Abnormal 5th metacarpal morphology": "HP:0010013", + "Abnormality of the 5th long bone of hand": "HP:0010013", + "Abnormality of the 5th metacarpal": "HP:0010013", + "Abnormality of the epiphysis of the 1st metacarpal": "HP:0010014", + "Abnormality of the end part of the 1st long bone of hand": "HP:0010014", + "Absent epiphysis of the 1st metacarpal": "HP:0010015", + "Absent end part of the 1st long bone of hand": "HP:0010015", + "Bracket epiphysis of the 1st metacarpal": "HP:0010016", + "Bracket shaped end part of 1st long bone of hand": "HP:0010016", + "Cone-shaped epiphysis of the 1st metacarpal": "HP:0010017", + "Cone-shaped end part of the 1st long bone of hand": "HP:0010017", + "Enlarged epiphysis of the 1st metacarpal": "HP:0010018", + "Enlarged end part of the 1st long bone of hand": "HP:0010018", + "Fragmentation of the epiphysis of the 1st metacarpal": "HP:0010019", + "Fragmentation of the end part of the 1st long bone of hand": "HP:0010019", + "Irregular epiphysis of the 1st metacarpal": "HP:0010020", + "Irregular end part of the 1st long bone of hand": "HP:0010020", + "Ivory epiphysis of the 1st metacarpal": "HP:0010021", + "Increased bone density of end part of the 1st long bone of hand": "HP:0010021", + "Pseudoepiphysis of the 1st metacarpal": "HP:0010022", + "Small epiphysis of the 1st metacarpal": "HP:0010023", + "Small end part of the 1st long bone of hand": "HP:0010023", + "Epiphyseal stippling of the first metacarpal": "HP:0010024", + "Speckled calcifications in the end part of the first long bone of hand": "HP:0010024", + "Stippling of the epiphysis of the 1st metacarpal": "HP:0010024", + "Triangular epiphysis of the 1st metacarpal": "HP:0010025", + "Triangular end part of the 1st long bone of hand": "HP:0010025", + "Aplasia/Hypoplasia of the 1st metacarpal": "HP:0010026", + "Absent/small 1st long bone of hand": "HP:0010026", + "Absent/underdeveloped 1st long bone of hand": "HP:0010026", + "Broad 1st metacarpal": "HP:0010027", + "Wide 1st long bone of hand": "HP:0010027", + "Bullet-shaped 1st metacarpal": "HP:0010028", + "Bullet-shaped 1st long bone of hand": "HP:0010028", + "Curved 1st metacarpal": "HP:0010029", + "Curved 1st long bone of hand": "HP:0010029", + "Osteolytic defects of the 1st metacarpal": "HP:0010030", + "Patchy sclerosis of the 1st metacarpal": "HP:0010031", + "Uneven increase in bone density in 1st long bone of hand": "HP:0010031", + "Triangular shaped 1st metacarpal": "HP:0010033", + "Triangular shaped 1st long bone of hand": "HP:0010033", + "Short 1st metacarpal": "HP:0010034", + "First metacarpal hypoplasia": "HP:0010034", + "First metacarpals hypoplastic": "HP:0010034", + "Hypoplastic 1st metacarpal": "HP:0010034", + "Short first metacarpal": "HP:0010034", + "Short first metacarpals": "HP:0010034", + "Shortened 1st long bone of hand": "HP:0010034", + "Aplasia of the 1st metacarpal": "HP:0010035", + "Absent 1st long bone of hand": "HP:0010035", + "Absent first metacarpal": "HP:0010035", + "Aplasia/Hypoplasia of the 2nd metacarpal": "HP:0010036", + "Absent/small 2nd long bone of hand": "HP:0010036", + "Absent/underdeveloped 2nd long bone of hand": "HP:0010036", + "Aplasia of the 2nd metacarpal": "HP:0010037", + "Absent 2nd long bone of hand": "HP:0010037", + "Short 2nd metacarpal": "HP:0010038", + "Rudimentary 2nd metacarpal": "HP:0010038", + "Shortened 2nd long bone of hand": "HP:0010038", + "Hypoplastic 2nd metacarpal": "HP:0010038", + "Aplasia/Hypoplasia of the 3rd metacarpal": "HP:0010039", + "Absent/small 3rd long bone of hand": "HP:0010039", + "Absent/underdeveloped 3rd long bone of hand": "HP:0010039", + "Aplasia of the 3rd metacarpal": "HP:0010040", + "Absent 3rd long bone of hand": "HP:0010040", + "Short 3rd metacarpal": "HP:0010041", + "Hypoplastic 3rd metacarpal": "HP:0010041", + "Short third metacarpals": "HP:0010041", + "Shortened 3rd long bone of hand": "HP:0010041", + "Small 3rd metacarpals": "HP:0010041", + "Aplasia/Hypoplasia of the 4th metacarpal": "HP:0010042", + "Absent/small 4th long bone of hand": "HP:0010042", + "Absent/underdeveloped 4th long bone of hand": "HP:0010042", + "Aplasia of the 4th metacarpal": "HP:0010043", + "Absent 4th long bone of hand": "HP:0010043", + "Short 4th metacarpal": "HP:0010044", + "Hypoplastic fourth metacarpal": "HP:0010044", + "Short 4th metacarpals": "HP:0010044", + "Short fourth metacarpals": "HP:0010044", + "Shortened 4th long bone of hand": "HP:0010044", + "Aplasia/Hypoplasia of the 5th metacarpal": "HP:0010045", + "Absent/small 5th long bone of hand": "HP:0010045", + "Absent/underdeveloped 5th long bone of hand": "HP:0010045", + "Aplasia of the 5th metacarpal": "HP:0010046", + "Absent 5th long bone of hand": "HP:0010046", + "Absent 5th metacarpal": "HP:0010046", + "Short 5th metacarpal": "HP:0010047", + "Fifth metacarpal hypoplasia": "HP:0010047", + "Hypoplastic 5th metacarpal": "HP:0010047", + "Short fifth metacarpal": "HP:0010047", + "Short fifth metacarpals": "HP:0010047", + "Shortened 5th long bone of hand": "HP:0010047", + "Aplasia of metacarpal bones": "HP:0010048", + "Absent long bone of hand": "HP:0010048", + "Absent metacarpal": "HP:0010048", + "Absent metacarpals": "HP:0010048", + "Short metacarpal": "HP:0010049", + "Brachymetacarpalia": "HP:0010049", + "Hypoplastic metacarpal": "HP:0010049", + "Metacarpal hypoplasia": "HP:0010049", + "Short metacarpals": "HP:0010049", + "Shortened long bone of hand": "HP:0010049", + "Shortened long bones of hand": "HP:0010049", + "Shortened metacarpals": "HP:0010049", + "Shortening of metacarpals": "HP:0010049", + "Short metacarpal bones": "HP:0010049", + "Deviation of the hallux": "HP:0010051", + "Displacement of big toe": "HP:0010051", + "Displacement of the hallux": "HP:0010051", + "Abnormal morphology of the proximal phalanx of the hallux": "HP:0010052", + "Abnormal innermost big toe bone": "HP:0010052", + "Abnormality of the proximal phalanx of the hallux": "HP:0010052", + "Abnormality of the distal phalanx of the hallux": "HP:0010053", + "Abnormality of the outermost bone of the big toe": "HP:0010053", + "Abnormality of the first metatarsal bone": "HP:0010054", + "Abnormality of the 1st long bone of foot": "HP:0010054", + "Broad hallux": "HP:0010055", + "Abnormally broad great toes": "HP:0010055", + "Broad big toe": "HP:0010055", + "Broad great toe": "HP:0010055", + "Broad great toes": "HP:0010055", + "Broad halluces": "HP:0010055", + "Wide big toe": "HP:0010055", + "Abnormality of the epiphyses of the hallux": "HP:0010056", + "Abnormality of the end part of the big toe bone": "HP:0010056", + "Abnormal hallux phalanx morphology": "HP:0010057", + "Abnormal big toe bones": "HP:0010057", + "Abnormality of the phalanges of the hallux": "HP:0010057", + "Aplasia/Hypoplasia of the phalanges of the hallux": "HP:0010058", + "Absent/small big toe bone": "HP:0010058", + "Absent/underdeveloped big toe bone": "HP:0010058", + "Broad hallux phalanx": "HP:0010059", + "Broad bone of big toe": "HP:0010059", + "Broad phalanges of the hallux": "HP:0010059", + "Wide bone of big toe": "HP:0010059", + "Bullet-shaped hallux phalanx": "HP:0010060", + "Bullet-shaped bone of big toe": "HP:0010060", + "Bullet-shaped phalanges of the hallux": "HP:0010060", + "Curved hallux phalanx": "HP:0010061", + "Curve bones of big toe": "HP:0010061", + "Curved phalanges of the hallux": "HP:0010061", + "Osteolytic defects of the phalanges of the hallux": "HP:0010062", + "Patchy sclerosis of hallux phalanx": "HP:0010063", + "Patchy sclerosis of the phalanges of the hallux": "HP:0010063", + "Uneven increase in bone density in big toe bone": "HP:0010063", + "Symphalangism affecting the phalanges of the hallux": "HP:0010064", + "Fused big toe bones": "HP:0010064", + "hallucal symphalangism": "HP:0010064", + "Triangular shaped phalanges of the hallux": "HP:0010065", + "Triangular shaped bones of big toe": "HP:0010065", + "Duplication of phalanx of hallux": "HP:0010066", + "Duplicated hallux": "HP:0010066", + "Duplication of big toe bone": "HP:0010066", + "Duplication of great toes": "HP:0010066", + "Duplication of phalanx of big toe": "HP:0010066", + "Hallucal duplication": "HP:0010066", + "Partial/complete duplication of the phalanges of the hallux": "HP:0010066", + "Aplasia/hypoplasia of the 1st metatarsal": "HP:0010067", + "Absent/small 1st long bone of foot": "HP:0010067", + "Absent/underdeveloped 1st long bone of foot": "HP:0010067", + "Broad first metatarsal": "HP:0010068", + "Broad 1st metatarsal": "HP:0010068", + "Enlarged first metatarsal": "HP:0010068", + "Wide 1st long bone of foot": "HP:0010068", + "Bullet-shaped 1st metatarsal": "HP:0010069", + "Bullet-shaped 1st long bone of foot": "HP:0010069", + "Curved 1st metatarsal": "HP:0010070", + "Curved 1st long bone of foot": "HP:0010070", + "Osteolytic defects of the 1st metatarsal": "HP:0010071", + "Patchy sclerosis of the 1st metatarsal": "HP:0010072", + "Uneven increase in bone density of the 1st long bone of foot": "HP:0010072", + "Synostosis involving the 1st metatarsal": "HP:0010073", + "Fusion involving the 1st long bone of foot": "HP:0010073", + "Triangular shaped 1st metatarsal": "HP:0010074", + "Triangular shaped 1st long bone of foot": "HP:0010074", + "Duplication of the 1st metatarsal": "HP:0010075", + "Duplicated 1st long bone of foot": "HP:0010075", + "Duplicated first metatarsals": "HP:0010075", + "Aplasia/Hypoplasia of the distal phalanx of the hallux": "HP:0010076", + "Absent/small outermost big toe bone": "HP:0010076", + "Absent/underdeveloped outermost big toe bone": "HP:0010076", + "Broad distal phalanx of the hallux": "HP:0010077", + "Broad outermost bone of big toe": "HP:0010077", + "Wide outermost bone of big toe": "HP:0010077", + "Bullet-shaped distal phalanx of the hallux": "HP:0010078", + "Bullet-shaped outermost bone of big toe": "HP:0010078", + "Curved distal phalanx of the hallux": "HP:0010079", + "Curved outermost bone of big toe": "HP:0010079", + "Osteolytic defects of the distal phalanx of the hallux": "HP:0010080", + "Patchy sclerosis of the distal phalanx of the hallux": "HP:0010081", + "Uneven increase in bone density in the outermost bone of big toe": "HP:0010081", + "Symphalangism affecting the distal phalanx of the hallux": "HP:0010082", + "Fused outermost bone of big toe": "HP:0010082", + "Triangular shaped distal phalanx of the hallux": "HP:0010083", + "Triangular shaped outermost bone of the big toe": "HP:0010083", + "Duplication of the distal phalanx of the hallux": "HP:0010084", + "Duplication of the outermost bone of big toe": "HP:0010084", + "Partial/complete duplication of the distal phalanx of the hallux": "HP:0010084", + "Aplasia/Hypoplasia of the proximal phalanx of the hallux": "HP:0010085", + "Absent/small innermost big toe bone": "HP:0010085", + "Absent/underdeveloped innermost big toe bone": "HP:0010085", + "Broad proximal phalanx of the hallux": "HP:0010086", + "Broad innermost bone of the big toe": "HP:0010086", + "Broad proximal phalanx of the big toe": "HP:0010086", + "Bullet-shaped proximal phalanx of the hallux": "HP:0010087", + "Bullet-shaped innermost bone of the big toe": "HP:0010087", + "Curved proximal phalanx of the hallux": "HP:0010088", + "Curved innermost bone of the big toe": "HP:0010088", + "Osteolytic defects of the proximal phalanx of the hallux": "HP:0010089", + "Patchy sclerosis of the proximal phalanx of the hallux": "HP:0010090", + "Uneven increase in bone density in the innermost bone of the big toe": "HP:0010090", + "Symphalangism affecting the proximal phalanx of the hallux": "HP:0010091", + "Fused innermost bone of big toe": "HP:0010091", + "Triangular shaped proximal phalanx of the hallux": "HP:0010092", + "Triangular shaped innermost bone of big toe": "HP:0010092", + "Duplication of the proximal phalanx of the hallux": "HP:0010093", + "Duplication of the innermost bone of big toe": "HP:0010093", + "Complete duplication of the proximal phalanx of the hallux": "HP:0010094", + "Complete duplication of the innermost bone of big toe": "HP:0010094", + "Partial duplication of the proximal phalanx of the hallux": "HP:0010095", + "Partial duplication of the innermost bone of big toe": "HP:0010095", + "Complete duplication of the distal phalanx of the hallux": "HP:0010096", + "Complete duplication of the outermost bone of the big toe": "HP:0010096", + "Partial duplication of the distal phalanx of the hallux": "HP:0010097", + "Bifid distal phalanx of hallux": "HP:0010097", + "Notched outermost bone of big toe": "HP:0010097", + "Partial duplication of the outermost bone of big toe": "HP:0010097", + "Complete duplication of the 1st metatarsal": "HP:0010098", + "Complete duplication of the 1st long bone of foot": "HP:0010098", + "Partial duplication of the 1st metatarsal": "HP:0010099", + "Partial duplication of the 1st long bone of foot": "HP:0010099", + "Complete duplication of hallux phalanx": "HP:0010100", + "Complete duplication of big toe bones": "HP:0010100", + "Complete duplication of the phalanges of the hallux": "HP:0010100", + "Partial duplication of the phalanges of the hallux": "HP:0010101", + "Partial duplication of big toe": "HP:0010101", + "partial duplication of hallux": "HP:0010101", + "Aplasia of the distal phalanx of the hallux": "HP:0010102", + "Absent outermost bone of big toe": "HP:0010102", + "Short distal phalanx of hallux": "HP:0010103", + "Hypoplastic/small distal phalanx of the hallux": "HP:0010103", + "Small distal phalanx of big toe": "HP:0010103", + "Small distal phalanx of hallux": "HP:0010103", + "Small outermost bone of big toe": "HP:0010103", + "Absent first metatarsal": "HP:0010104", + "Absent 1st long bone of foot": "HP:0010104", + "Absent 1st metatarsal": "HP:0010104", + "Aplasia of the 1st metatarsal": "HP:0010104", + "Short first metatarsal": "HP:0010105", + "First metatarsal hypoplasia": "HP:0010105", + "First metatarsals hypoplastic": "HP:0010105", + "Short 1st long bone of foot": "HP:0010105", + "Aplasia of the proximal phalanx of the hallux": "HP:0010106", + "Absent innermost bone of big toe": "HP:0010106", + "Short proximal phalanx of hallux": "HP:0010107", + "Hypoplastic proximal phalanx of the hallux": "HP:0010107", + "Short innermost big toe bone": "HP:0010107", + "Short proximal phalanges of halluces": "HP:0010107", + "Short proximal phalanx of halluces": "HP:0010107", + "Small proximal phalanx of big toe": "HP:0010107", + "Small proximal phalanx of hallux": "HP:0010107", + "Short hallux": "HP:0010109", + "Hypoplastic big toes": "HP:0010109", + "Hypoplastic hallux": "HP:0010109", + "Short big toe": "HP:0010109", + "Short halluces": "HP:0010109", + "Small hallux": "HP:0010109", + "Aplasia of the phalanges of the hallux": "HP:0010110", + "Absent bone of big toe": "HP:0010110", + "Short phalanx of hallux": "HP:0010111", + "Hypoplastic phalanges of the hallux": "HP:0010111", + "Short bone of big toe": "HP:0010111", + "Mesoaxial foot polydactyly": "HP:0010112", + "Central polydactyly of feet": "HP:0010112", + "Absent hallux epiphysis": "HP:0010113", + "Absent end part of big toe bone": "HP:0010113", + "Absent epiphyses of the hallux": "HP:0010113", + "Bracket epiphyses of the hallux": "HP:0010114", + "Bracket shaped end part of big toe bone": "HP:0010114", + "Cone-shaped epiphyses of the hallux": "HP:0010115", + "Cone-shaped end part of the big toe bone": "HP:0010115", + "Enlarged epiphyses of the hallux": "HP:0010116", + "Enlarged end part of the big toe bone": "HP:0010116", + "Fragmentation of the epiphyses of the hallux": "HP:0010117", + "Fragmentation of the end part of the big toe bone": "HP:0010117", + "Irregular epiphyses of the hallux": "HP:0010118", + "Irregular end part of big toe bone": "HP:0010118", + "Ivory epiphyses of the hallux": "HP:0010119", + "Increased bone density of end part of the big toe bone": "HP:0010119", + "Pseudoepiphyses of the hallux": "HP:0010120", + "Small epiphyses of the hallux": "HP:0010121", + "Small end part of the big toe bone": "HP:0010121", + "Stippling of the epiphyses of the hallux": "HP:0010122", + "Speckled calcifications in the end part of the big toe bone": "HP:0010122", + "Triangular epiphyses of the hallux": "HP:0010123", + "Triangular end part of the big toe bone": "HP:0010123", + "Abnormality of the epiphysis of the distal phalanx of the hallux": "HP:0010124", + "Abnormality of the end part of the outermost bone of the big toe bone": "HP:0010124", + "Abnormality of the epiphysis of the 1st metatarsal": "HP:0010125", + "Abnormality of the end part of the 1st long bone of foot": "HP:0010125", + "Abnormality of the epiphysis of the proximal phalanx of the hallux": "HP:0010126", + "Abnormality of the end part of the innermost bone of the big toe": "HP:0010126", + "Absent epiphysis of the proximal phalanx of the hallux": "HP:0010127", + "Absent end part of the innermost bone of the big toe": "HP:0010127", + "Bracket epiphysis of the proximal phalanx of the hallux": "HP:0010128", + "Bracket shaped end part of the innermost bone of big toe": "HP:0010128", + "Cone-shaped epiphysis of the proximal phalanx of the hallux": "HP:0010129", + "Cone-shaped end part of the innermost bone of the big toe": "HP:0010129", + "Enlarged epiphysis of the proximal phalanx of the hallux": "HP:0010130", + "Enlarged end part of the innermost bone of the big toe": "HP:0010130", + "Fragmentation of the epiphysis of the proximal phalanx of the hallux": "HP:0010131", + "Fragmentation of the end part of the innermost bone of the big toe": "HP:0010131", + "Irregular epiphysis of the proximal phalanx of the hallux": "HP:0010132", + "Irregular end part of the innermost bone of the big toe": "HP:0010132", + "Ivory epiphysis of the proximal phalanx of the hallux": "HP:0010133", + "Increased bone density of end part of the innermost bone of the big toe": "HP:0010133", + "Pseudoepiphysis of the proximal phalanx of the hallux": "HP:0010134", + "Small epiphysis of the proximal phalanx of the hallux": "HP:0010135", + "Small end part of the innermost bone of the big toe": "HP:0010135", + "Stippling of the epiphysis of the proximal phalanx of the hallux": "HP:0010136", + "Speckled calcifications in the end part of the innermost bone of the big toe": "HP:0010136", + "Triangular epiphysis of the proximal phalanx of the hallux": "HP:0010137", + "Triangular end part of the innermost bone of the big toe": "HP:0010137", + "Absent epiphysis of the distal phalanx of the hallux": "HP:0010138", + "Absent end part of the outermost bone of the big toe": "HP:0010138", + "Bracket epiphysis of the distal phalanx of the hallux": "HP:0010139", + "Bracket shaped end part of the outermost bone of big toe": "HP:0010139", + "Cone-shaped epiphysis of the distal phalanx of the hallux": "HP:0010140", + "Cone-shaped end part of the outermost bone of the big toe": "HP:0010140", + "Enlarged epiphysis of the distal phalanx of the hallux": "HP:0010141", + "Enlarged end part of the outermost bone of the big toe": "HP:0010141", + "Fragmentation of the epiphysis of the distal phalanx of the hallux": "HP:0010142", + "Fragmentation of the end part of the outermost bone of the big toe": "HP:0010142", + "Irregular epiphysis of the distal phalanx of the hallux": "HP:0010143", + "Irregular end part of the outermost bone of the big toe": "HP:0010143", + "Ivory epiphysis of the distal phalanx of the hallux": "HP:0010144", + "Increased bone density of end part of the outermost bone of the big toe": "HP:0010144", + "Pseudoepiphysis of the distal phalanx of the hallux": "HP:0010145", + "Small epiphysis of the distal phalanx of the hallux": "HP:0010146", + "Small end part of the outermost bone of the big toe": "HP:0010146", + "Stippling of the epiphysis of the distal phalanx of the hallux": "HP:0010147", + "Speckled calcifications in the end part of the outermost bone of the big toe": "HP:0010147", + "Triangular epiphysis of the distal phalanx of the hallux": "HP:0010148", + "Triangular end part of the outermost bone of the big toe": "HP:0010148", + "Absent epiphysis of the 1st metatarsal": "HP:0010149", + "Absent end part of the 1st long bone of foot": "HP:0010149", + "Bracket epiphysis of the 1st metatarsal": "HP:0010150", + "Bracket shaped end part of 1st long bone of foot": "HP:0010150", + "Cone-shaped epiphysis of the 1st metatarsal": "HP:0010151", + "Cone-shaped end part of the 1st long bone of foot": "HP:0010151", + "Enlarged epiphysis of the 1st metatarsal": "HP:0010152", + "Enlarged end part of the 1st long bone of foot": "HP:0010152", + "Fragmentation of the epiphysis of the 1st metatarsal": "HP:0010153", + "Fragmentation of the end part of the 1st long bone of foot": "HP:0010153", + "Irregular epiphysis of the 1st metatarsal": "HP:0010154", + "Irregular end part of the 1st long bone of foot": "HP:0010154", + "Ivory epiphysis of the 1st metatarsal": "HP:0010155", + "Increased bone density of end part of the 1st long bone of foot": "HP:0010155", + "Pseudoepiphysis of the 1st metatarsal": "HP:0010156", + "Small epiphysis of the 1st metatarsal": "HP:0010157", + "Small end part of the 1st long bone of foot": "HP:0010157", + "Stippling of the epiphysis of the 1st metatarsal": "HP:0010158", + "Speckled calcifications in the end part of the 1st long bone of foot": "HP:0010158", + "Triangular epiphysis of the 1st metatarsal": "HP:0010159", + "Triangular end part of the 1st long bone of foot": "HP:0010159", + "Abnormal toe epiphysis morphology": "HP:0010160", + "Abnormality of the end part of the toe bones": "HP:0010160", + "Abnormality of the epiphyses of the toes": "HP:0010160", + "Abnormal toe phalanx morphology": "HP:0010161", + "Abnormality of the long bones of the toes": "HP:0010161", + "Abnormality of the phalanges of the toes": "HP:0010161", + "Absent epiphyses of the toes": "HP:0010162", + "Absent end part of the toe bones": "HP:0010162", + "Bracket epiphyses of the toes": "HP:0010163", + "Bracket shaped end part of the toe bones": "HP:0010163", + "Cone-shaped epiphyses of the toes": "HP:0010164", + "Cone-shaped end part of the toe bones": "HP:0010164", + "Enlarged epiphyses of the toes": "HP:0010165", + "Enlarged end part of the toe bones": "HP:0010165", + "Fragmentation of the epiphyses of the toes": "HP:0010166", + "Fragmentation of the end part of the toe bones": "HP:0010166", + "Irregular epiphyses of the toes": "HP:0010167", + "Irregular end part of the toe bones": "HP:0010167", + "Ivory epiphyses of the toes": "HP:0010168", + "Increased bone density of end part of the toes": "HP:0010168", + "Pseudoepiphyses of the toes": "HP:0010169", + "Small epiphyses of the toes": "HP:0010170", + "Small end part of the toe bones": "HP:0010170", + "Epiphyseal stippling of toe phalanges": "HP:0010171", + "Speckled calcifications in long toe bones": "HP:0010171", + "Stippling of the epiphyses of the toes": "HP:0010171", + "Triangular epiphyses of the toes": "HP:0010172", + "Triangular end part of the toe bones": "HP:0010172", + "Aplasia/Hypoplasia of the phalanges of the toes": "HP:0010173", + "Absent/small toe bones": "HP:0010173", + "Absent/underdeveloped toe bones": "HP:0010173", + "Broad phalanx of the toes": "HP:0010174", + "Wide toe bones": "HP:0010174", + "Bullet-shaped toe phalanx": "HP:0010175", + "Bullet-shaped phalanges of the toes": "HP:0010175", + "Bullet-shaped toe bone": "HP:0010175", + "Curved toe phalanx": "HP:0010176", + "Curved phalanges of the toes": "HP:0010176", + "Curved toe bone": "HP:0010176", + "Osteolytic defects of the phalanges of the toes": "HP:0010177", + "Patchy sclerosis of toe phalanx": "HP:0010178", + "Patchy sclerosis of the phalanges of the toes": "HP:0010178", + "Uneven increase in bone density in toe bone": "HP:0010178", + "Symphalangism affecting the phalanges of the toes": "HP:0010179", + "Fused toe bones": "HP:0010179", + "Triangular shaped phalanges of the toes": "HP:0010180", + "Triangular shaped toe bones": "HP:0010180", + "Duplication of phalanx of toe": "HP:0010181", + "Duplicated toe bone": "HP:0010181", + "Partial/complete duplication of the phalanges of the toes": "HP:0010181", + "Abnormality of the distal phalanges of the toes": "HP:0010182", + "Abnormality of the outermost bone of the toes": "HP:0010182", + "Abnormality of the middle phalanges of the toes": "HP:0010183", + "Abnormal middle bones of toe": "HP:0010183", + "Abnormality of toe proximal phalanx": "HP:0010184", + "Abnormal innermost toe bone": "HP:0010184", + "Abnormality of the proximal phalanges of the toes": "HP:0010184", + "Aplasia/Hypoplasia of the distal phalanges of the toes": "HP:0010185", + "Absent/hypoplastic terminal phalanges of toes": "HP:0010185", + "Absent/small outermost bones of toe": "HP:0010185", + "Absent/underdeveloped outermost bones of toe": "HP:0010185", + "Hypoplasia/agenesis of distal phalanges of toes": "HP:0010185", + "Broad distal phalanx of the toes": "HP:0010186", + "Broad outermost bone of the toe": "HP:0010186", + "Wide outermost bone of the toe": "HP:0010186", + "Bullet-shaped distal toe phalanx": "HP:0010187", + "Bullet-shaped distal phalanges of the toes": "HP:0010187", + "Bullet-shaped outermost bone of the toe": "HP:0010187", + "Curved distal toe phalanx": "HP:0010188", + "Curved distal phalanges of the toes": "HP:0010188", + "Curved outermost bone of the toe": "HP:0010188", + "Osteolytic defects of the distal phalanges of the toes": "HP:0010189", + "Patchy sclerosis of distal toe phalanx": "HP:0010190", + "Patchy sclerosis of the distal phalanges of the toes": "HP:0010190", + "Uneven increase in bone density in outermost toe bone": "HP:0010190", + "Symphalangism affecting the distal phalanges of the toes": "HP:0010191", + "Fused outermost bones of toes": "HP:0010191", + "Triangular shaped distal phalanges of the toes": "HP:0010192", + "Triangular shaped outermost bone of the toes": "HP:0010192", + "Duplication of distal phalanx of toe": "HP:0010193", + "Duplication of outermost bone of toe": "HP:0010193", + "Partial/complete duplication of the distal phalanges of the toes": "HP:0010193", + "Aplasia/Hypoplasia of the middle phalanges of the toes": "HP:0010194", + "Absent/small middle bones of toe": "HP:0010194", + "Absent/underdeveloped middle bones of toe": "HP:0010194", + "Broad middle phalanges of the toes": "HP:0010195", + "Broad middle bones of the toes": "HP:0010195", + "Bullet-shaped middle toe phalanx": "HP:0010196", + "Bullet-shaped middle bones of the toes": "HP:0010196", + "Bullet-shaped middle phalanges of the toes": "HP:0010196", + "Curved middle toe phalanx": "HP:0010197", + "Curved middle bones of the toes": "HP:0010197", + "Curved middle phalanges of the toes": "HP:0010197", + "Osteolytic defects of the middle phalanges of the toes": "HP:0010198", + "Patchy sclerosis of middle toe phalanx": "HP:0010199", + "Patchy sclerosis of the middle phalanges of the toes": "HP:0010199", + "Uneven increase in bone density in middle toe bone": "HP:0010199", + "Symphalangism affecting the middle phalanges of the toes": "HP:0010200", + "Fused middle bones of toes": "HP:0010200", + "Triangular shaped middle phalanges of the toes": "HP:0010201", + "Triangular shaped middle bones of toes": "HP:0010201", + "Duplication of middle phalanx of toe": "HP:0010202", + "Partial/complete duplication of the middle bones of the toes": "HP:0010202", + "Partial/complete duplication of the middle phalanges of the toes": "HP:0010202", + "Aplasia/hypoplasia of proximal toe phalanx": "HP:0010203", + "Absent/small innermost toe bones": "HP:0010203", + "Absent/underdeveloped innermost toe bones": "HP:0010203", + "Aplasia/Hypoplasia of the proximal phalanges of the toes": "HP:0010203", + "Broad proximal phalanx of toe": "HP:0010204", + "Broad innermost toe bone": "HP:0010204", + "Bullet-shaped proximal toe phalanx": "HP:0010205", + "Bullet-shaped innermost toe bone": "HP:0010205", + "Bullet-shaped proximal phalanges of the toes": "HP:0010205", + "Bullet-shaped proximal phalanges of toe": "HP:0010205", + "Curved proximal toe phalanx": "HP:0010206", + "Curved innermost toe bones": "HP:0010206", + "Curved proximal phalanges of the toes": "HP:0010206", + "Osteolytic defect of the proximal toe phalanx": "HP:0010207", + "Osteolytic defects of the proximal phalanges of the toes": "HP:0010207", + "Patchy sclerosis of proximal toe phalanx": "HP:0010208", + "Patchy sclerosis of the proximal phalanges of the toes": "HP:0010208", + "Uneven increase in bone density in innermost toe bone": "HP:0010208", + "Symphalangism affecting the proximal phalanges of the toes": "HP:0010209", + "Fused innermost bones of toes": "HP:0010209", + "Triangular shaped proximal phalanges of the toes": "HP:0010210", + "Triangular shaped innermost toe bones": "HP:0010210", + "Duplication of proximal phalanx of toe": "HP:0010211", + "Duplication of innermost toe bones": "HP:0010211", + "Partial/complete duplication of the proximal phalanges of the toes": "HP:0010211", + "Flexion contracture of the hallux": "HP:0010212", + "Joint contracture of the big toe": "HP:0010212", + "Joint contracture of the hallux": "HP:0010212", + "Contracture of the tarsometatarsal joint of the hallux": "HP:0010213", + "Contracture of the interphalangeal joint of the hallux": "HP:0010214", + "Contractures of the metatarsophalangeal joint of the hallux": "HP:0010215", + "Structural foot deformity": "HP:0010219", + "Abnormality of the epiphysis of the 2nd metacarpal": "HP:0010220", + "Abnormality of the end part of the 2nd long bone of hand": "HP:0010220", + "obsolete Pseudoepiphysis of the 2nd metacarpal": "HP:0010221", + "Abnormal 3rd metacarpal epiphysis morphology": "HP:0010222", + "Abnormality of the end part of the 3rd long bone of hand": "HP:0010222", + "Abnormality of the epiphysis of the 3rd metacarpal": "HP:0010222", + "Pseudoepiphysis of the 3rd metacarpal": "HP:0010223", + "Abnormal 4th metacarpal epiphysis morphology": "HP:0010224", + "Abnormality of the end part of the 4th long bone of hand": "HP:0010224", + "Abnormality of the epiphysis of the 4th metacarpal": "HP:0010224", + "Pseudoepiphysis of the 4th metacarpal": "HP:0010225", + "Abnormal 5th metacarpal epiphysis morphology": "HP:0010226", + "Abnormality of the end part of the long bone of little finger": "HP:0010226", + "Abnormality of the end part of the long bone of pinkie finger": "HP:0010226", + "Abnormality of the end part of the long bone of pinky finger": "HP:0010226", + "Abnormality of the epiphysis of the 5th metacarpal": "HP:0010226", + "Pseudoepiphysis of the 5th metacarpal": "HP:0010227", + "Absent epiphyses of the phalanges of the hand": "HP:0010228", + "Absent end part of fingers": "HP:0010228", + "Absent epiphyses of the fingers": "HP:0010228", + "Bracket epiphyses of the phalanges of the hand": "HP:0010229", + "Bracket epiphyses of the fingers": "HP:0010229", + "Bracket shaped end part of finger bones": "HP:0010229", + "Cone-shaped epiphyses of the phalanges of the hand": "HP:0010230", + "Cone-shaped end part of finger bones": "HP:0010230", + "Cone-shaped epiphyses of hand": "HP:0010230", + "Cone-shaped epiphyses of the fingers": "HP:0010230", + "Coned epiphyses of hands": "HP:0010230", + "Conical phalangeal epiphyses": "HP:0010230", + "Enlarged epiphyses of the phalanges of the hand": "HP:0010231", + "Enlarged end part of finger bones": "HP:0010231", + "Enlarged epiphyses of the fingers": "HP:0010231", + "Enlarged phalangeal epiphyses": "HP:0010231", + "Fragmentation of the epiphyses of the phalanges of the hand": "HP:0010232", + "Fragmentation of end part of finger bones": "HP:0010232", + "Fragmentation of the epiphyses of the fingers": "HP:0010232", + "Irregular epiphyses of the phalanges of the hand": "HP:0010233", + "Irregular end part of finger bones": "HP:0010233", + "Irregular epiphyses of the fingers": "HP:0010233", + "Ivory epiphyses of the phalanges of the hand": "HP:0010234", + "Increased bone density of end part of the hand bones": "HP:0010234", + "Ivory epiphyses of the fingers": "HP:0010234", + "Sclerotic ivory phalangeal epiphyses": "HP:0010234", + "Pseudoepiphyses of the phalanges of the hand": "HP:0010235", + "Pseudoepiphysis of the fingers": "HP:0010235", + "Small epiphyses of the phalanges of the hand": "HP:0010236", + "Small end part of finger bones": "HP:0010236", + "Small epiphyses of the fingers": "HP:0010236", + "Epiphyseal stippling of finger phalanges": "HP:0010237", + "Speckled calcifications in end part of finger bones": "HP:0010237", + "Stippling of the epiphyses of the fingers": "HP:0010237", + "Stippling of the epiphyses of the phalanges of the hand": "HP:0010237", + "Triangular epiphyses of the phalanges of the hand": "HP:0010238", + "Delta-shaped epiphyses of the fingers": "HP:0010238", + "Triangular end part of finger bones": "HP:0010238", + "Triangular epiphyses of the fingers": "HP:0010238", + "Aplasia of the middle phalanx of the hand": "HP:0010239", + "Absent middle bones of hand": "HP:0010239", + "Absent middle phalanges": "HP:0010239", + "Missing middle phalanges": "HP:0010239", + "Short proximal phalanx of finger": "HP:0010241", + "Hypoplasia of the proximal phalanges of the hand": "HP:0010241", + "Short innermost finger bones": "HP:0010241", + "Short proximal phalanges": "HP:0010241", + "Shortening in proximal phalanges": "HP:0010241", + "Aplasia of the proximal phalanges of the hand": "HP:0010242", + "Absent innermost bones": "HP:0010242", + "Absent proximal phalanges": "HP:0010242", + "Abnormality of the epiphyses of the distal phalanx of finger": "HP:0010243", + "Abnormality of the end part of the outermost bone of finger": "HP:0010243", + "Abnormality of the epiphyses of the middle phalanges of the hand": "HP:0010244", + "Abnormality of the end part of the middle hand bones": "HP:0010244", + "Abnormality of the epiphyses of the proximal phalanges of the hand": "HP:0010245", + "Abnormality of the end part of the innermost hand bones": "HP:0010245", + "Absent epiphyses of the distal phalanges of the hand": "HP:0010246", + "Absent end part of the outermost hand bones": "HP:0010246", + "Bracket epiphyses of the distal phalanges of the hand": "HP:0010247", + "Bracket shaped end part of the outermost hand bones": "HP:0010247", + "Cone-shaped epiphyses of the distal phalanges of the hand": "HP:0010248", + "Cone-shaped end part of the outermost hand bones": "HP:0010248", + "Enlarged epiphyses of the distal phalanges of the hand": "HP:0010249", + "Enlarged end part of the outermost hand bones": "HP:0010249", + "Fragmentation of the epiphyses of the distal phalanges of the hand": "HP:0010250", + "Fragmentation of the end part of the outermost hand bones": "HP:0010250", + "Irregular epiphyses of the distal phalanges of the hand": "HP:0010251", + "Irregular end part of the outermost hand bones": "HP:0010251", + "Ivory epiphyses of the distal phalanges of the hand": "HP:0010252", + "Eburnated epiphyses of distal phalanges": "HP:0010252", + "Increased bone density of end part of the outermost hand bones": "HP:0010252", + "Pseudoepiphyses of the distal phalanges of the hand": "HP:0010253", + "Small epiphyses of the distal phalanges of the hand": "HP:0010254", + "Small end part of the outermost hand bones": "HP:0010254", + "Stippling of the epiphyses of the distal phalanges of the hand": "HP:0010255", + "Speckled calcifications in the end part of the outermost hand bones": "HP:0010255", + "Triangular epiphyses of the distal phalanges of the hand": "HP:0010256", + "Triangular end part of the outermost hand bones": "HP:0010256", + "Absent epiphyses of the middle phalanges of the hand": "HP:0010257", + "Absent end part of the middle hand bones": "HP:0010257", + "Bracket epiphyses of the middle phalanges of the hand": "HP:0010258", + "Bracket shaped end part of the middle hand bones": "HP:0010258", + "Cone-shaped epiphyses of the middle phalanges of the hand": "HP:0010259", + "Cone-shaped end part of the middle hand bones": "HP:0010259", + "Cone-shaped epiphyses of middle phalanges": "HP:0010259", + "Enlarged epiphyses of the middle phalanges of the hand": "HP:0010260", + "Enlarged end part of the middle hand bones": "HP:0010260", + "Fragmentation of the epiphyses of the middle phalanges of the hand": "HP:0010261", + "Fragmentation of the end part of the middle hand bones": "HP:0010261", + "Irregular epiphyses of the middle phalanges of the hand": "HP:0010262", + "Irregular end part of middle hand bones": "HP:0010262", + "Ivory epiphyses of the middle phalanges of the hand": "HP:0010263", + "Increased bone density of end part of the middle hand bones": "HP:0010263", + "Pseudoepiphyses of the middle phalanges of the hand": "HP:0010264", + "Small epiphyses of the middle phalanges of the hand": "HP:0010265", + "Small end part of the middle hand bones": "HP:0010265", + "Stippling of the epiphyses of the middle phalanges of the hand": "HP:0010266", + "Speckled calcifications in the end part of the middle hand bones": "HP:0010266", + "Triangular epiphyses of the middle phalanges of the hand": "HP:0010267", + "Triangular end part of the middle hand bones": "HP:0010267", + "Absent epiphyses of the proximal phalanges of the hand": "HP:0010268", + "Absent end part of the innermost hand bones": "HP:0010268", + "Bracket epiphyses of the proximal phalanges of the hand": "HP:0010269", + "Bracket shaped end part of the innermost hand bones": "HP:0010269", + "Cone-shaped epiphyses of the proximal phalanges of the hand": "HP:0010270", + "Cone-shaped end part of the innermost hand bones": "HP:0010270", + "Enlarged epiphyses of the proximal phalanges of the hand": "HP:0010271", + "Enlarged end part of the innermost hand bones": "HP:0010271", + "Fragmentation of the epiphyses of the proximal phalanges of the hand": "HP:0010272", + "Fragmentation of the end part of the innermost hand bones": "HP:0010272", + "Irregular epiphyses of the proximal phalanges of the hand": "HP:0010273", + "Irregular end part of the innermost hand bones": "HP:0010273", + "Ivory epiphyses of the proximal phalanges of the hand": "HP:0010274", + "Increased bone density of end part of the innermost hand bones": "HP:0010274", + "Pseudoepiphyses of the proximal phalanges of the hand": "HP:0010275", + "Small epiphyses of the proximal phalanges of the hand": "HP:0010276", + "Small end part of the innermost hand bones": "HP:0010276", + "Stippling of the epiphyses of the proximal phalanges of the hand": "HP:0010277", + "Speckled calcifications in the end part of the innermost hand bones": "HP:0010277", + "Triangular epiphyses of the proximal phalanges of the hand": "HP:0010278", + "Triangular end part of the innermost hand bones": "HP:0010278", + "Stomatitis": "HP:0010280", + "Inflammation of the mouth": "HP:0010280", + "Gingivostomatitis": "HP:0010280", + "Cleft lower lip": "HP:0010281", + "Cleft of the lower lip": "HP:0010281", + "Lower labial cleft": "HP:0010281", + "Thin lower lip vermilion": "HP:0010282", + "Decreased height of lower lip vermilion": "HP:0010282", + "Decreased volume of lower lip": "HP:0010282", + "Decreased volume of lower lip vermilion": "HP:0010282", + "Thin lower lip": "HP:0010282", + "Thin vermilion border of lower lip": "HP:0010282", + "Thin red part of the lower lip": "HP:0010282", + "Intra-oral hyperpigmentation": "HP:0010284", + "Hyperpigmentation of oral mucosa": "HP:0010284", + "Oral mucosa melanin pigmentation": "HP:0010284", + "Oral racial pigmentation": "HP:0010284", + "Dark color of gums": "HP:0010284", + "Dark colour of gums": "HP:0010284", + "Gingival hyperpigmentation": "HP:0010284", + "Gingival melanin pigmentation": "HP:0010284", + "Pigmented gums": "HP:0010284", + "Oral synechia": "HP:0010285", + "Oral fibrous bands": "HP:0010285", + "Synechiae of the mouth": "HP:0010285", + "Abnormal salivary gland morphology": "HP:0010286", + "Abnormality of the salivary glands": "HP:0010286", + "Salivary gland disease": "HP:0010286", + "Abnormality of the submandibular glands": "HP:0010287", + "Abnormality of the submaxillary glands": "HP:0010287", + "Abnormality of the sublingual glands": "HP:0010288", + "Cleft maxillary alveolar ridge": "HP:0010289", + "Alveolar cleft": "HP:0010289", + "Alveolar ridge cleft": "HP:0010289", + "Cleft anterior maxilla": "HP:0010289", + "Cleft maxillary alveolus": "HP:0010289", + "Cleft of alveolar ridge of maxilla": "HP:0010289", + "Cleft of gum ridge": "HP:0010289", + "Notch of alveolar ridge": "HP:0010289", + "Notch of gum ridge": "HP:0010289", + "Cleft of alveolar process": "HP:0010289", + "Notch of alveolar process": "HP:0010289", + "Short hard palate": "HP:0010290", + "Decreased length of hard palate": "HP:0010290", + "Hypoplastic palate": "HP:0010290", + "Short palate": "HP:0010290", + "Prominent palatine ridges": "HP:0010291", + "Large lateral palatal folds": "HP:0010291", + "Large lateral palatal ridges": "HP:0010291", + "Prominent lateral palatal folds": "HP:0010291", + "Prominent lateral palatal ridges": "HP:0010291", + "Prominent palatine folds": "HP:0010291", + "Absent uvula": "HP:0010292", + "Absent palatine uvula": "HP:0010292", + "Congenital absence of uvula": "HP:0010292", + "Missing uvula": "HP:0010292", + "Uvula aplasia": "HP:0010292", + "Agenesis of uvula": "HP:0010292", + "Aplasia/Hypoplasia of the uvula": "HP:0010293", + "Aplasia/hypoplasia of palatine uvula": "HP:0010293", + "Palate fistula": "HP:0010294", + "Hole in roof of mouth": "HP:0010294", + "Palatal hole": "HP:0010294", + "Palatal perforation": "HP:0010294", + "Aplasia/Hypoplasia of the tongue": "HP:0010295", + "Lingual aplasia/hypoplasia": "HP:0010295", + "Ankyloglossia": "HP:0010296", + "Tongue tied": "HP:0010296", + "Tongue tie": "HP:0010296", + "Bifid tongue": "HP:0010297", + "Bifurcated tongue": "HP:0010297", + "Bilobed tongue": "HP:0010297", + "Cleft tongue": "HP:0010297", + "Forked tongue": "HP:0010297", + "Split tongue": "HP:0010297", + "Snake tongue": "HP:0010297", + "Smooth tongue": "HP:0010298", + "Smooth lingual surface": "HP:0010298", + "Smooth surface of tongue": "HP:0010298", + "Smooth dorsum of tongue": "HP:0010298", + "Atrophy of dorsum of tongue": "HP:0010298", + "Atrophy of lingual surface": "HP:0010298", + "Atrophy of tongue surface": "HP:0010298", + "Abnormal dentin morphology": "HP:0010299", + "Abnormal dentin": "HP:0010299", + "Abnormality of dentin": "HP:0010299", + "Abnormality of dentine": "HP:0010299", + "Dentin anomaly": "HP:0010299", + "Abnormally low-pitched voice": "HP:0010300", + "Low pitched voice": "HP:0010300", + "Low-pitched voice": "HP:0010300", + "Spinal dysraphism": "HP:0010301", + "Incomplete closure of the vertebral arch": "HP:0010301", + "Spinal cord tumor": "HP:0010302", + "Spinal cord tumour": "HP:0010302", + "Tumor of the spinal cord": "HP:0010302", + "Tumour of the spinal cord": "HP:0010302", + "Spinal tumor": "HP:0010302", + "Spinal tumors": "HP:0010302", + "Spinal tumour": "HP:0010302", + "Spinal tumours": "HP:0010302", + "Abnormal spinal meningeal morphology": "HP:0010303", + "Abnormality of the spinal meninges": "HP:0010303", + "Spinal meningeal diverticulum": "HP:0010304", + "Spinal meningeal diverticula": "HP:0010304", + "Absence of the sacrum": "HP:0010305", + "Sacrococcygeal agenesis": "HP:0010305", + "Absent sacrum": "HP:0010305", + "Sacral agenesis": "HP:0010305", + "Short thorax": "HP:0010306", + "Shorter than typical length between neck and abdomen": "HP:0010306", + "Stridor": "HP:0010307", + "Noisy breathing": "HP:0010307", + "Asternia": "HP:0010308", + "Aplasia of the sternum": "HP:0010308", + "Breast bone aplasia": "HP:0010308", + "Bifid sternum": "HP:0010309", + "Sternal cleft": "HP:0010309", + "Chylothorax": "HP:0010310", + "Aplasia/Hypoplasia of the breasts": "HP:0010311", + "Absent/small breasts": "HP:0010311", + "Absent/underdeveloped breasts": "HP:0010311", + "Asymmetry of the breasts": "HP:0010312", + "Breast hypertrophy": "HP:0010313", + "Breast enlargement": "HP:0010313", + "Breasts enlarged": "HP:0010313", + "Gigantomastia": "HP:0010313", + "Hypertrophy of the breasts": "HP:0010313", + "Large breast": "HP:0010313", + "Macromastia": "HP:0010313", + "Premature thelarche": "HP:0010314", + "Premature breast development": "HP:0010314", + "Aplasia/Hypoplasia of the diaphragm": "HP:0010315", + "Absent/small diaprhagm": "HP:0010315", + "Absent/underdeveloped diaprhagm": "HP:0010315", + "Ebstein anomaly of the tricuspid valve": "HP:0010316", + "Ebstein's anomaly": "HP:0010316", + "Ebstein's anomaly of the tricuspid valve": "HP:0010316", + "Ebstein's malformation": "HP:0010316", + "Scapular aplasia": "HP:0010317", + "Absent scapula": "HP:0010317", + "Absent shoulder blade": "HP:0010317", + "Aplasia/Hypoplasia of the abdominal wall musculature": "HP:0010318", + "Absent/small abdominal wall muscles": "HP:0010318", + "Absent/underdeveloped abdominal wall muscles": "HP:0010318", + "Abnormal second toe morphology": "HP:0010319", + "Abnormal 2nd toe morphology": "HP:0010319", + "Abnormality of the 2nd toe": "HP:0010319", + "Abnormal third toe morphology": "HP:0010320", + "Abnormal 3rd toe morphology": "HP:0010320", + "Abnormality of the 3rd toe": "HP:0010320", + "Abnormal fourth toe morphology": "HP:0010321", + "Abnormal 4th toe morphology": "HP:0010321", + "Abnormality of the 4th toe": "HP:0010321", + "Abnormal fifth toe morphology": "HP:0010322", + "Abnormal 5th toe morphology": "HP:0010322", + "Abnormality of the 5th toe": "HP:0010322", + "Abnormality of the little toe": "HP:0010322", + "Abnormality of the pinkie toe": "HP:0010322", + "Abnormality of the pinky toe": "HP:0010322", + "Abnormality of the epiphyses of the 2nd toe": "HP:0010323", + "Abnormality of the end part of the 2nd toe bone": "HP:0010323", + "Abnormal morphology of phalanx of the 2nd toe": "HP:0010324", + "Abnormality of the 2nd toe bone": "HP:0010324", + "Aplasia/Hypoplasia of the 2nd toe": "HP:0010325", + "Absent/small 2nd toe": "HP:0010325", + "Absent/underdeveloped 2nd toe": "HP:0010325", + "Deviation of the 2nd toe": "HP:0010326", + "Displacement of the 2nd toe": "HP:0010326", + "Flexion contracture of the 2nd toe": "HP:0010327", + "Joint contractures of the 2nd toe": "HP:0010327", + "Polydactyly affecting the 2nd toe": "HP:0010328", + "Abnormality of the epiphyses of the 3rd toe": "HP:0010329", + "Abnormality of the end part of the 3rd toe bone": "HP:0010329", + "Abnormality of the phalanges of the 3rd toe": "HP:0010330", + "Abnormality of the bones of the 3rd toe": "HP:0010330", + "Aplasia/Hypoplasia of the 3rd toe": "HP:0010331", + "Absent/hypoplastic third toe": "HP:0010331", + "Absent/small 3rd toe": "HP:0010331", + "Absent/underdeveloped 3rd toe": "HP:0010331", + "Deviation of the 3rd toe": "HP:0010332", + "Displacement of the 3rd toe": "HP:0010332", + "Flexion contracture of 3rd toe": "HP:0010333", + "Joint contractures of the 3rd toe": "HP:0010333", + "Polydactyly affecting the 3rd toe": "HP:0010334", + "Abnormality of the epiphyses of the 4th toe": "HP:0010335", + "Abnormality of the end part of the 4th toe bone": "HP:0010335", + "Abnormality of the phalanges of the 4th toe": "HP:0010336", + "Aplasia/Hypoplasia of the 4th toe": "HP:0010337", + "Absent/small 4th toe": "HP:0010337", + "Absent/underdeveloped 4th toe": "HP:0010337", + "Deviation of the 4th toe": "HP:0010338", + "Displacement of the 4th toe": "HP:0010338", + "Flexion contracture of the 4th toe": "HP:0010339", + "Joint contractures of the 4th toe": "HP:0010339", + "Polydactyly affecting the 4th toe": "HP:0010340", + "Abnormality of the epiphyses of the 5th toe": "HP:0010341", + "Abnormality of the end part of the little toe bone": "HP:0010341", + "Abnormality of the end part of the pinkie toe bone": "HP:0010341", + "Abnormality of the end part of the pinky toe bone": "HP:0010341", + "Abnormality of the phalanges of the 5th toe": "HP:0010342", + "Abnormality of the little toe bones": "HP:0010342", + "Abnormality of the pinkie toe bones": "HP:0010342", + "Abnormality of the pinky toe bones": "HP:0010342", + "Aplasia/Hypoplasia of the 5th toe": "HP:0010343", + "Absent/small little toe": "HP:0010343", + "Absent/small pinkie toe": "HP:0010343", + "Absent/small pinky toe": "HP:0010343", + "Absent/underdeveloped pinky toe": "HP:0010343", + "Deviation of the 5th toe": "HP:0010344", + "Displacement of the 5th toe": "HP:0010344", + "Displacement of the little toe": "HP:0010344", + "Displacement of the pinkie toe": "HP:0010344", + "Displacement of the pinky toe": "HP:0010344", + "Flexion contracture of the 5th toe": "HP:0010345", + "Joint contractures of the 5th toe": "HP:0010345", + "Aplasia/Hypoplasia of the phalanges of the 2nd toe": "HP:0010347", + "Absent/small bones of 2nd toe": "HP:0010347", + "Absent/underdeveloped bones of 2nd toe": "HP:0010347", + "Broad phalanges of the 2nd toe": "HP:0010348", + "Broad bones of the 2nd toe": "HP:0010348", + "Bullet-shaped 2nd toe phalanx": "HP:0010349", + "Bullet-shaped bones of the 2nd toe": "HP:0010349", + "Bullet-shaped phalanges of the 2nd toe": "HP:0010349", + "Curved 2nd toe phalanx": "HP:0010350", + "Curved bones of the 2nd toe": "HP:0010350", + "Curved phalanges of the 2nd toe": "HP:0010350", + "Osteolytic defects of the phalanges of the 2nd toe": "HP:0010351", + "Patchy sclerosis of 2nd toe phalanx": "HP:0010352", + "Patchy sclerosis of the phalanges of the 2nd toe": "HP:0010352", + "Uneven increase in bone density in 2nd toe bone": "HP:0010352", + "Second toe symphalangism": "HP:0010353", + "2nd toe symphalangism": "HP:0010353", + "Fused bones of 2nd toe": "HP:0010353", + "Symphalangism affecting the phalanges of the 2nd toe": "HP:0010353", + "Triangular shaped phalanges of the 2nd toe": "HP:0010354", + "Triangular shaped bone of 2nd toe": "HP:0010354", + "Triangular shaped bone of second toe": "HP:0010354", + "Duplication of the phalanges of the 2nd toe": "HP:0010355", + "Duplication of the bones of the 2nd toe": "HP:0010355", + "Partial/complete duplication of the phalanges of the 2nd toe": "HP:0010355", + "Abnormality of the distal phalanx of the 2nd toe": "HP:0010356", + "Abnormality of the outermost bone of the 2nd toe": "HP:0010356", + "Abnormality of the middle phalanx of the 2nd toe": "HP:0010357", + "Abnormality of the middle bone of the 2nd toe": "HP:0010357", + "Abnormal morphology of the proximal phalanx of the 2nd toe": "HP:0010358", + "Abnormality of the innermost bone of the 2nd toe": "HP:0010358", + "Aplasia/Hypoplasia of the phalanges of the 3rd toe": "HP:0010359", + "Absent/small bones of 3rd toe": "HP:0010359", + "Absent/underdeveloped bones of 3rd toe": "HP:0010359", + "Broad phalanges of the 3rd toe": "HP:0010360", + "Wide bones of 3rd toe": "HP:0010360", + "Bullet-shaped 3rd toe phalanx": "HP:0010361", + "Bullet-shaped bones of 3rd toe": "HP:0010361", + "Bullet-shaped phalanges of the 3rd toe": "HP:0010361", + "Curved 3rd toe phalanx": "HP:0010362", + "Curved bones of 3rd toe": "HP:0010362", + "Curved phalanges of the 3rd toe": "HP:0010362", + "Osteolytic defects of the phalanges of the 3rd toe": "HP:0010363", + "Patchy sclerosis of 3rd toe phalanx": "HP:0010364", + "Patchy sclerosis of the phalanges of the 3rd toe": "HP:0010364", + "Uneven increase in bone density in 3rd toe bone": "HP:0010364", + "Symphalangism affecting the phalanges of the 3rd toe": "HP:0010365", + "Fused bones of 3rd toe": "HP:0010365", + "Triangular shaped phalanges of the 3rd toe": "HP:0010366", + "Triangular shaped 3rd toe bones": "HP:0010366", + "Duplication of phalanx of the 3rd toe": "HP:0010367", + "Duplication of 3rd toe bone": "HP:0010367", + "Duplication of phalanx of the third toe": "HP:0010367", + "Partial/complete duplication of the phalanges of the 3rd toe": "HP:0010367", + "Abnormality of the distal phalanx of the 3rd toe": "HP:0010368", + "Abnormality of the outermost bone of the 3rd toe": "HP:0010368", + "Abnormality of the middle phalanx of the 3rd toe": "HP:0010369", + "Abnormality of the middle bone of 3rd toe": "HP:0010369", + "Abnormal morphology of the proximal phalanx of the 3rd toe": "HP:0010370", + "Abnormality of the innermost bone of 3rd toe": "HP:0010370", + "Aplasia/Hypoplasia of the phalanges of the 4th toe": "HP:0010371", + "Absent/small bones of 4th toe": "HP:0010371", + "Absent/underdeveloped bones of 4th toe": "HP:0010371", + "Broad phalanges of the 4th toe": "HP:0010372", + "Broad bones of the 4th toe": "HP:0010372", + "Bullet-shaped 4th toe phalanx": "HP:0010373", + "Bullet-shaped bones of the 4th toe": "HP:0010373", + "Bullet-shaped phalanges of the 4th toe": "HP:0010373", + "Curved 4th toe phalanx": "HP:0010374", + "Curved bones of 4th toe": "HP:0010374", + "Curved phalanges of the 4th toe": "HP:0010374", + "Osteolytic defects of the phalanges of the 4th toe": "HP:0010375", + "Patchy sclerosis of 4th toe phalanx": "HP:0010376", + "Patchy sclerosis of the phalanges of the 4th toe": "HP:0010376", + "Uneven increase in bone density in 4th toe bone": "HP:0010376", + "Symphalangism affecting the phalanges of the 4th toe": "HP:0010377", + "Fused bones of 4th toe": "HP:0010377", + "Triangular shaped phalanges of the 4th toe": "HP:0010378", + "Triangular shaped bones of 4th toe": "HP:0010378", + "Duplication of phalanx of the 4th toe": "HP:0010379", + "Duplication of 4th toe bone": "HP:0010379", + "Duplication of phalanx of the fourth toe": "HP:0010379", + "Partial/complete duplication of the phalanges of the 4th toe": "HP:0010379", + "Abnormality of the distal phalanx of the 4th toe": "HP:0010380", + "Abnormality of the outermost 4th toe bone": "HP:0010380", + "Abnormality of the middle phalanx of the 4th toe": "HP:0010381", + "Abnormality of middle 4th toe bone": "HP:0010381", + "Abnormal morphology of the proximal phalanx of the 4th toe": "HP:0010382", + "Abnormal innermost 4th toe bone": "HP:0010382", + "Aplasia/Hypoplasia of the phalanges of the 5th toe": "HP:0010383", + "Absent/small little toe bones": "HP:0010383", + "Absent/small pinkie toe bones": "HP:0010383", + "Absent/small pinky toe bones": "HP:0010383", + "Absent/underdeveloped pinky toe bones": "HP:0010383", + "Broad phalanges of the 5th toe": "HP:0010384", + "Broad bones of the little toe": "HP:0010384", + "Broad bones of the pinkie toe": "HP:0010384", + "Broad bones of the pinky toe": "HP:0010384", + "Bullet-shaped 5th toe phalanx": "HP:0010385", + "Bullet-shaped bones of the little toe": "HP:0010385", + "Bullet-shaped bones of the pinkie toe": "HP:0010385", + "Bullet-shaped bones of the pinky toe": "HP:0010385", + "Bullet-shaped phalanges of the 5th toe": "HP:0010385", + "Curved 5th toe phalanx": "HP:0010386", + "Curved little toe bones": "HP:0010386", + "Curved phalanges of the 5th toe": "HP:0010386", + "Curved pinkie toe bones": "HP:0010386", + "Curved pinky toe bones": "HP:0010386", + "Osteolytic defects of the phalanges of the 5th toe": "HP:0010387", + "Patchy sclerosis of 5th toe phalanx": "HP:0010388", + "Patchy sclerosis of the phalanges of the 5th toe": "HP:0010388", + "Uneven increase in bone density in little toe bone": "HP:0010388", + "Uneven increase in bone density in pinkie toe bone": "HP:0010388", + "Uneven increase in bone density in pinky toe bone": "HP:0010388", + "Symphalangism affecting the phalanges of the 5th toe": "HP:0010389", + "Fused bones in the little toe": "HP:0010389", + "Fused bones in the pinkie toe": "HP:0010389", + "Fused bones in the pinky toe": "HP:0010389", + "Triangular shaped phalanges of the 5th toe": "HP:0010390", + "Triangular shaped little toe bone": "HP:0010390", + "Triangular shaped pinkie toe bone": "HP:0010390", + "Triangular shaped pinky toe bone": "HP:0010390", + "Duplication of the phalanges of the 5th toe": "HP:0010391", + "Duplication of the bones of the little toe": "HP:0010391", + "Duplication of the bones of the pinkie toe": "HP:0010391", + "Duplication of the bones of the pinky toe": "HP:0010391", + "Duplication of the phalanges of the fifth toe": "HP:0010391", + "Partial/complete duplication of the phalanges of the 5th toe": "HP:0010391", + "Abnormality of the distal phalanx of the 5th toe": "HP:0010392", + "Abnormality of the outermost bone of the little toe": "HP:0010392", + "Abnormality of the outermost bone of the pinkie toe": "HP:0010392", + "Abnormality of the outermost bone of the pinky toe": "HP:0010392", + "Abnormality of the middle phalanx of the 5th toe": "HP:0010393", + "Abnormality of the middle bone of the little toe": "HP:0010393", + "Abnormality of the middle bone of the pinkie toe": "HP:0010393", + "Abnormality of the middle bone of the pinky toe": "HP:0010393", + "Abnormal morphology of the proximal phalanx of the 5th toe": "HP:0010394", + "Abnormality of the innermost bone of the little toe": "HP:0010394", + "Abnormality of the innermost bone of the pinkie toe": "HP:0010394", + "Abnormality of the innermost bone of the pinky toe": "HP:0010394", + "Aplasia/hypoplasia of the proximal phalanx of the 2nd toe": "HP:0010395", + "Absent/small innermost 2nd toe bone": "HP:0010395", + "Absent/underdeveloped innermost 2nd toe bone": "HP:0010395", + "Broad proximal phalanx of the 2nd toe": "HP:0010396", + "Broad innermost bone of 2nd toe": "HP:0010396", + "Bullet-shaped proximal phalanx of the 2nd toe": "HP:0010397", + "Bullet-shaped innermost bone of 2nd toe": "HP:0010397", + "Curved proximal phalanx of the 2nd toe": "HP:0010398", + "Curved innermost bone of 2nd toe": "HP:0010398", + "Osteolytic defects of the proximal phalanx of the 2nd toe": "HP:0010399", + "Patchy sclerosis of the proximal phalanx of the 2nd toe": "HP:0010400", + "Uneven increase in bone density in the innermost bone of the 2nd toe": "HP:0010400", + "Symphalangism affecting the proximal phalanx of the 2nd toe": "HP:0010401", + "Fused innermost bone of the 2nd toe": "HP:0010401", + "Triangular shaped proximal phalanx of the 2nd toe": "HP:0010402", + "Triangular shaped innermost 2nd toe bone": "HP:0010402", + "Duplication of the proximal phalanx of the 2nd toe": "HP:0010403", + "Duplication of innermost 2nd toe bone": "HP:0010403", + "Duplication of the proximal phalanx of the second toe": "HP:0010403", + "Partial/complete duplication of the proximal phalanx of the 2nd toe": "HP:0010403", + "Aplasia/Hypoplasia of the middle phalanx of the 2nd toe": "HP:0010404", + "Absent/small middle bone of 2nd toe": "HP:0010404", + "Absent/underdeveloped middle bone of 2nd toe": "HP:0010404", + "Broad middle phalanx of the 2nd toe": "HP:0010405", + "Broad middle bone of 2nd toe": "HP:0010405", + "Bullet-shaped middle phalanx of the 2nd toe": "HP:0010406", + "Bullet-shaped middle bone of 2nd toe": "HP:0010406", + "Curved middle phalanx of the 2nd toe": "HP:0010407", + "Curved middle bone of 2nd toe": "HP:0010407", + "Osteolytic defects of the middle phalanx of the 2nd toe": "HP:0010408", + "Patchy sclerosis of the middle phalanx of the 2nd toe": "HP:0010409", + "Uneven increase in bone density in the middle bone of the 2nd toe": "HP:0010409", + "Symphalangism affecting the middle phalanx of the 2nd toe": "HP:0010410", + "Fused middle bone of 2nd toe": "HP:0010410", + "Triangular shaped middle phalanx of the 2nd toe": "HP:0010411", + "Triangular shaped middle bone of 2nd toe": "HP:0010411", + "Duplication of the middle phalanx of the 2nd toe": "HP:0010412", + "Duplication of middle bone of 2nd toe": "HP:0010412", + "Partial/complete duplication of the middle phalanx of the 2nd toe": "HP:0010412", + "Aplasia/Hypoplasia of the distal phalanx of the 2nd toe": "HP:0010413", + "Absent/small outermost 2nd toe bone": "HP:0010413", + "Absent/underdeveloped outermost 2nd toe bone": "HP:0010413", + "Broad distal phalanx of the 2nd toe": "HP:0010414", + "Broad outermost bone of the 2nd toe": "HP:0010414", + "Wide outermost bone of the 2nd toe": "HP:0010414", + "Bullet-shaped distal phalanx of the 2nd toe": "HP:0010415", + "Bullet-shaped outermost bone of the 2nd toe": "HP:0010415", + "Curved distal phalanx of the 2nd toe": "HP:0010416", + "Curved outermost bone of the 2nd toe": "HP:0010416", + "Osteolytic defects of the distal phalanx of the 2nd toe": "HP:0010417", + "Patchy sclerosis of the distal phalanx of the 2nd toe": "HP:0010418", + "Uneven increase in bone density in the outermost bone of the 2nd toe": "HP:0010418", + "Symphalangism affecting the distal phalanx of the 2nd toe": "HP:0010419", + "Fused outermost bone of the 2nd toe": "HP:0010419", + "Triangular shaped distal phalanx of the 2nd toe": "HP:0010420", + "Triangular shaped outermost 2nd toe bone": "HP:0010420", + "Duplication of the distal phalanx of the 2nd toe": "HP:0010421", + "Duplication of the outermost bone of the 2nd toe": "HP:0010421", + "Partial/complete duplication of the distal phalanx of the 2nd toe": "HP:0010421", + "Complete duplication of the proximal phalanx of the 2nd toe": "HP:0010422", + "Complete duplication of the innermost 2nd toe bone": "HP:0010422", + "Complete duplication of the proximal phalanx of the second toe": "HP:0010422", + "Partial duplication of the proximal phalanx of the 2nd toe": "HP:0010423", + "Partial duplication of the innermost 2nd toe bone": "HP:0010423", + "Partial duplication of the proximal phalanx of the second toe": "HP:0010423", + "Complete duplication of the distal phalanx of the 2nd toe": "HP:0010424", + "Complete duplication of the outermost bone of the 2nd toe": "HP:0010424", + "Partial duplication of the distal phalanx of the 2nd toe": "HP:0010425", + "Partial duplication of the outermost bone of the 2nd toe": "HP:0010425", + "Complete duplication of the middle phalanx of the 2nd toe": "HP:0010426", + "Complete duplication of the middle bone of the 2nd toe": "HP:0010426", + "Partial duplication of the middle phalanx of the 2nd toe": "HP:0010427", + "Partial duplication of the middle bone of the 2nd toe": "HP:0010427", + "Partial duplication of phalanx of the 2nd toe": "HP:0010428", + "Partial duplication of 2nd toe bone": "HP:0010428", + "Complete duplication of the phalanges of the 2nd toe": "HP:0010429", + "Complete duplication of the 2nd toe bones": "HP:0010429", + "Aplasia of the phalanges of the 2nd toe": "HP:0010430", + "Absent 2nd toe bones": "HP:0010430", + "Short phalanx of the 2nd toe": "HP:0010431", + "Hypoplastic/small phalanges of the 2nd toe": "HP:0010431", + "Short 2nd toe bone": "HP:0010431", + "Short phalanx of the second toe": "HP:0010431", + "Absent distal phalanx of the 2nd toe": "HP:0010432", + "Absent distal phalanx of the second toe": "HP:0010432", + "Absent outermost bone of the 2nd toe": "HP:0010432", + "Aplasia of the distal phalanx of the 2nd toe": "HP:0010432", + "Short distal phalanx of the 2nd toe": "HP:0010433", + "Hypoplastic/small distal phalanx of the 2nd toe": "HP:0010433", + "Short distal phalanx of the second toe": "HP:0010433", + "Short outermost bone of the 2nd toe": "HP:0010433", + "Aplasia of the middle phalanx of the 2nd toe": "HP:0010434", + "Absent middle bone of 2nd toe": "HP:0010434", + "Short middle phalanx of the 2nd toe": "HP:0010435", + "Hypoplastic/small middle phalanx of the 2nd toe": "HP:0010435", + "Short middle 2nd toe bone": "HP:0010435", + "Short middle phalanx of the second toe": "HP:0010435", + "Aplasia of the proximal phalanx of the 2nd toe": "HP:0010436", + "Absent innermost 2nd toe bone": "HP:0010436", + "Short proximal phalanx of the 2nd toe": "HP:0010437", + "Hypoplastic/small proximal phalanx of the 2nd toe": "HP:0010437", + "Short innermost 2nd toe bone": "HP:0010437", + "Short proximal phalanx of the second toe": "HP:0010437", + "Abnormal ventricular septum morphology": "HP:0010438", + "Abnormal interventricular septum morphology": "HP:0010438", + "Abnormality of the ventricular septum": "HP:0010438", + "Ventricular septum abnormality": "HP:0010438", + "Ectopic accessory toe-like appendage": "HP:0010440", + "Ectopic accessory finger-like appendage": "HP:0010441", + "Polydactyly": "HP:0010442", + "More than five fingers or toes on hands or feet": "HP:0010442", + "Bifid femur": "HP:0010443", + "Notched thighbone": "HP:0010443", + "Split thighbone": "HP:0010443", + "Pulmonic regurgitation": "HP:0010444", + "Pulmonary incompetence": "HP:0010444", + "Pulmonary valve insufficiency": "HP:0010444", + "Pulmonary valve regurgitation": "HP:0010444", + "Puolmonary valve insufficiency": "HP:0010444", + "Primum atrial septal defect": "HP:0010445", + "Atrial septal defect, primum type": "HP:0010445", + "Ostium primum atrial septal defect": "HP:0010445", + "Primum atrioventricular canal defect": "HP:0010445", + "Septum primum defect": "HP:0010445", + "ostium primum ASD": "HP:0010445", + "Tricuspid stenosis": "HP:0010446", + "Anal fistula": "HP:0010447", + "Fistula in ano": "HP:0010447", + "Colonic atresia": "HP:0010448", + "Atresia of the large intestine": "HP:0010448", + "Large intestinal atresia": "HP:0010448", + "Esophageal stenosis": "HP:0010450", + "Narrowing of the esophagus": "HP:0010450", + "Narrowing of the oesophagus": "HP:0010450", + "Aplasia/Hypoplasia of the spleen": "HP:0010451", + "Absent/small spleen": "HP:0010451", + "Absent/underdeveloped spleen": "HP:0010451", + "Ectopia of the spleen": "HP:0010452", + "Abnormal spleen location": "HP:0010452", + "Ectopic spleen": "HP:0010452", + "Pelvic bone asymmetry": "HP:0010453", + "Pelvic asymmetry": "HP:0010453", + "Asymmetric pelvis": "HP:0010453", + "Acetabular spurs": "HP:0010454", + "Steep acetabular roof": "HP:0010455", + "Abnormal greater sciatic notch morphology": "HP:0010456", + "Abnormality of greater sciatic notch": "HP:0010456", + "Abnormality of the greater sacrosciatic notch": "HP:0010456", + "Abnormality of the sacroiliac notch": "HP:0010456", + "obsolete Widening of the sacrosciatic notch": "HP:0010457", + "Female pseudohermaphroditism": "HP:0010458", + "True hermaphroditism": "HP:0010459", + "Testicular and ovarian tissue present": "HP:0010459", + "Abnormality of the female genitalia": "HP:0010460", + "Abnormality of the male genitalia": "HP:0010461", + "Abnormal male genitals": "HP:0010461", + "Aplasia/Hypoplasia of the ovary": "HP:0010462", + "Absent/small ovary": "HP:0010462", + "Absent/underdeveloped ovary": "HP:0010462", + "Aplasia of the ovary": "HP:0010463", + "Absent ovary": "HP:0010463", + "Aplasia of the ovaries": "HP:0010463", + "Bilateral absent ovaries": "HP:0010463", + "Streak ovary": "HP:0010464", + "Precocious puberty in females": "HP:0010465", + "Aplasia/Hypoplasia of the testes": "HP:0010468", + "Absent/small testes": "HP:0010468", + "Absent/underdeveloped testes": "HP:0010468", + "Absent testis": "HP:0010469", + "Absence of palpable testicules": "HP:0010469", + "Absent testes": "HP:0010469", + "Aplasia of the testes": "HP:0010469", + "Supernumerary testes": "HP:0010470", + "Extra testes": "HP:0010470", + "Polyorchidism": "HP:0010470", + "Oligosacchariduria": "HP:0010471", + "Abnormal circulating porphyrin concentration": "HP:0010472", + "Porphyrinuria": "HP:0010473", + "Bladder stones": "HP:0010474", + "Cloacal exstrophy": "HP:0010475", + "Aplasia/Hypoplasia of the bladder": "HP:0010476", + "Absent/small bladder": "HP:0010476", + "Absent/underdeveloped bladder": "HP:0010476", + "Aplasia of the bladder": "HP:0010477", + "Absent bladder": "HP:0010477", + "Abnormality of the urachus": "HP:0010478", + "Patent urachus": "HP:0010479", + "Persistent urachus": "HP:0010479", + "Urethral fistula": "HP:0010480", + "Urethral valve": "HP:0010481", + "Acromelia of the upper limbs": "HP:0010482", + "Amniotic constriction rings of arms": "HP:0010483", + "Hypertrophy of the upper limb": "HP:0010484", + "Increased size of upper limb": "HP:0010484", + "Hyperextensibility at elbow": "HP:0010485", + "Abnormality of the hypothenar eminence": "HP:0010486", + "Small hypothenar eminence": "HP:0010487", + "Hypoplasia of the hypothenar eminence": "HP:0010487", + "Hypothenar hypoplasia": "HP:0010487", + "Aplasia/Hypoplasia of the palmar creases": "HP:0010488", + "Absent/small palm crease": "HP:0010488", + "Absent/underdeveloped palm crease": "HP:0010488", + "Absent palmar crease": "HP:0010489", + "Absence of the palmar creases": "HP:0010489", + "Absent palm lines": "HP:0010489", + "Aplasia of the palmar creases": "HP:0010489", + "Abnormality of the palmar creases": "HP:0010490", + "Abnormality of the palm lines": "HP:0010490", + "Digital constriction ring": "HP:0010491", + "Amniotic constriction rings of digits": "HP:0010491", + "Osseous finger syndactyly": "HP:0010492", + "Osseous syndactyly of the fingers": "HP:0010492", + "Long metacarpals": "HP:0010493", + "Elongated long bone of hand": "HP:0010493", + "Increased length of metacarpals": "HP:0010493", + "Acromelia of the lower limbs": "HP:0010494", + "Amniotic constriction rings of legs": "HP:0010495", + "Hypertrophy of the lower limb": "HP:0010496", + "Sirenomelia": "HP:0010497", + "Sympodia": "HP:0010497", + "Bipartite patella": "HP:0010498", + "Patellar subluxation": "HP:0010499", + "Partial knee cap dislocation": "HP:0010499", + "Subluxation of patella": "HP:0010499", + "Hyperextensibility of the knee": "HP:0010500", + "Limitation of knee mobility": "HP:0010501", + "Limited knee movement": "HP:0010501", + "Fibular bowing": "HP:0010502", + "Bowed calf bone": "HP:0010502", + "Fibular duplication": "HP:0010503", + "Duplicated calf bone": "HP:0010503", + "Increased length of the tibia": "HP:0010504", + "Increased length of shankbone": "HP:0010504", + "Increased length of shinbone": "HP:0010504", + "Limitation of movement at ankles": "HP:0010505", + "Abnormal plantar dermatoglyphics": "HP:0010506", + "Abnormal dermatoglyphics on feet": "HP:0010506", + "Abnormal prints on feet": "HP:0010506", + "Foot asymmetry": "HP:0010507", + "Metatarsus valgus": "HP:0010508", + "Aplasia of the tarsal bones": "HP:0010509", + "Absent ankle bone": "HP:0010509", + "Absent tarsals": "HP:0010509", + "Hypermobility of toe joints": "HP:0010510", + "Long toe": "HP:0010511", + "Increased length of toes": "HP:0010511", + "Long toes": "HP:0010511", + "Adrenal calcification": "HP:0010512", + "Pituitary calcification": "HP:0010513", + "Hyperpituitarism": "HP:0010514", + "Aplasia/Hypoplasia of the thymus": "HP:0010515", + "Absent/small thymus": "HP:0010515", + "Absent/underdeveloped thymus": "HP:0010515", + "Thymic hypoplasia or aplasia": "HP:0010515", + "Thymus hyperplasia": "HP:0010516", + "Enlarged thymus": "HP:0010516", + "Thymic hyperplasia": "HP:0010516", + "Ectopic thymus tissue": "HP:0010517", + "Abnormal thymus position": "HP:0010517", + "Thyroglossal cyst": "HP:0010518", + "Thyroglossal duct cyst": "HP:0010518", + "Increased fetal movement": "HP:0010519", + "Fetal hyperkinesia": "HP:0010519", + "Foetal hyperkinesia": "HP:0010519", + "Increased foetal movement": "HP:0010519", + "Gait apraxia": "HP:0010521", + "Dyslexia": "HP:0010522", + "Reading disability": "HP:0010522", + "Alexia": "HP:0010523", + "Text blindness": "HP:0010523", + "Word blindness": "HP:0010523", + "Disturbed sensory perception": "HP:0010524", + "Agnosia": "HP:0010524", + "Finger agnosia": "HP:0010525", + "Dysgraphia": "HP:0010526", + "Agraphia": "HP:0010526", + "Astereognosis": "HP:0010527", + "Somatosensory agnosia": "HP:0010527", + "Prosopagnosia": "HP:0010528", + "Face blindness": "HP:0010528", + "Facial agnosia": "HP:0010528", + "Echolalia": "HP:0010529", + "Echoing another person's speech": "HP:0010529", + "Echologia": "HP:0010529", + "Echophrasia": "HP:0010529", + "Repeated speech": "HP:0010529", + "Palatal tremor": "HP:0010530", + "Palatal myoclonus": "HP:0010530", + "Spinal myoclonus": "HP:0010531", + "Paroxysmal vertigo": "HP:0010532", + "Spasmus nutans": "HP:0010533", + "Transient global amnesia": "HP:0010534", + "Sleep apnea": "HP:0010535", + "Pauses in breathing while sleeping": "HP:0010535", + "Sleep apnoea": "HP:0010535", + "Central sleep apnea": "HP:0010536", + "Central sleep apnoea": "HP:0010536", + "Wide cranial sutures": "HP:0010537", + "Broad cranial sutures": "HP:0010537", + "Diastasis of cranial sutures": "HP:0010537", + "Large cranial suture": "HP:0010537", + "Persistent open cranial sutures": "HP:0010537", + "Sutural diastasis": "HP:0010537", + "Widened cranial sutures": "HP:0010537", + "open cranial sutures": "HP:0010537", + "Small sella turcica": "HP:0010538", + "Hypoplasia of sella turcica": "HP:0010538", + "Hypoplasia of hypophseal fossa": "HP:0010538", + "Hypoplasia of pituitary fossa": "HP:0010538", + "Small hypophyseal fossa": "HP:0010538", + "Small pituitary fossa": "HP:0010538", + "Thin calvarium": "HP:0010539", + "Thin skull bone": "HP:0010539", + "Thin cranial bone": "HP:0010539", + "Advanced pneumatization of cranial sinuses": "HP:0010540", + "Cutis gyrata of scalp": "HP:0010541", + "Scalp folds": "HP:0010541", + "Scalp furrows": "HP:0010541", + "Cutis verticis gyrata": "HP:0010541", + "Furrows in thickened skin on top of scalp": "HP:0010541", + "Scalp rugae": "HP:0010541", + "Thickened folds on top of scalp": "HP:0010541", + "Thickening of the scalp": "HP:0010541", + "Vestibular nystagmus": "HP:0010542", + "Opsoclonus": "HP:0010543", + "Vertical nystagmus": "HP:0010544", + "Downbeat nystagmus": "HP:0010545", + "Muscle fibrillation": "HP:0010546", + "EMG: fibrillations on electromyogram": "HP:0010546", + "Twitching": "HP:0010546", + "Muscle flaccidity": "HP:0010547", + "Percussion myotonia": "HP:0010548", + "Transient swelling of muscle induced by percussion": "HP:0010548", + "Weakness due to upper motor neuron dysfunction": "HP:0010549", + "Paralysis due to lesions of the principle motor tracts": "HP:0010549", + "Paraplegia": "HP:0010550", + "Leg paralysis": "HP:0010550", + "Paraplegia/paraparesis": "HP:0010551", + "Oculogyric crisis": "HP:0010553", + "Cutaneous finger syndactyly": "HP:0010554", + "Cutaneous syndactyly of fingers": "HP:0010554", + "Cutaneous syndactyly of hands": "HP:0010554", + "Webbed fingers": "HP:0010554", + "Webbed skin of fingers": "HP:0010554", + "Overlapping fingers": "HP:0010557", + "Abnormality of the clivus": "HP:0010558", + "Vertical clivus": "HP:0010559", + "Undulate clavicles": "HP:0010560", + "Wavy clavicles": "HP:0010560", + "Wavy collarbone": "HP:0010560", + "Undulate ribs": "HP:0010561", + "Wavy ribs": "HP:0010561", + "Keloids": "HP:0010562", + "Bifid epiglottis": "HP:0010564", + "Aplasia/Hypoplasia of the Epiglottis": "HP:0010565", + "Hamartoma": "HP:0010566", + "Y-shaped metatarsals": "HP:0010567", + "Y-shaped long bone of foot": "HP:0010567", + "Hamartoma of the eye": "HP:0010568", + "Elevated circulating 7-dehydrocholesterol concentration": "HP:0010569", + "Elevated levels of cholesta-5,7-dien-3beta-ol": "HP:0010569", + "Low maternal circulating alpha-fetoprotein concentration": "HP:0010570", + "Low maternal serum alpha-fetoprotein": "HP:0010570", + "Elevated circulating phytanic acid concentration": "HP:0010571", + "Elevated level of phytanic acid": "HP:0010571", + "Elevated levels of phytanic acid": "HP:0010571", + "Abnormality of the epiphysis of the femoral head": "HP:0010574", + "Abnormality of the end part of the innermost thighbone": "HP:0010574", + "Abnormality of the proximal femoral epiphysis": "HP:0010574", + "Dysplasia of the femoral head": "HP:0010575", + "Abnormality of femoral head development": "HP:0010575", + "Dysplastic femoral head": "HP:0010575", + "Intracranial cystic lesion": "HP:0010576", + "Cerebral cystic malformation": "HP:0010576", + "Absent epiphyses": "HP:0010577", + "Absent end part of bone": "HP:0010577", + "Bracket epiphyses": "HP:0010578", + "Bracket shaped end part of long bone": "HP:0010578", + "Cone-shaped epiphysis": "HP:0010579", + "Cone-shaped end part of bone": "HP:0010579", + "Cone-shaped epiphyses": "HP:0010579", + "Coned epiphyses": "HP:0010579", + "Enlarged epiphyses": "HP:0010580", + "Large end part of bone": "HP:0010580", + "Large epiphyses": "HP:0010580", + "Widened, distorted epiphyses": "HP:0010580", + "Irregular epiphyses": "HP:0010582", + "Irregular end part of long bone": "HP:0010582", + "Ivory epiphyses": "HP:0010583", + "Epiphyseal sclerosis": "HP:0010583", + "Increased bone density in end part of bone": "HP:0010583", + "Pseudoepiphyses": "HP:0010584", + "Small epiphyses": "HP:0010585", + "Small end part of bone": "HP:0010585", + "Triangular epiphysis": "HP:0010587", + "Longitudinal epiphyseal bracket": "HP:0010587", + "Triangular end part of bone": "HP:0010587", + "Triangular epiphyses": "HP:0010587", + "Premature epimetaphyseal fusion": "HP:0010588", + "Premature closure of epiphyses": "HP:0010588", + "Abnormality of the distal femoral epiphysis": "HP:0010590", + "Abnormality of the end part of the outermost thighbone": "HP:0010590", + "Abnormality of the proximal tibial epiphysis": "HP:0010591", + "Abnormality of the end part of innermost shankbone": "HP:0010591", + "Abnormality of the end part of innermost shinbone": "HP:0010591", + "Abnormality of the distal tibial epiphysis": "HP:0010592", + "Abnormality of the end part of outermost shankbone": "HP:0010592", + "Abnormality of the end part of outermost shinbone": "HP:0010592", + "Abnormal fibular epiphysis morphology": "HP:0010593", + "Abnormality of fibular epiphyses": "HP:0010593", + "Abnormality of the end part of the calf bone": "HP:0010593", + "Abnormality of the proximal fibular epiphysis": "HP:0010594", + "Abnormality of the innermost end part of calf bone": "HP:0010594", + "Abnormality of the distal fibular epiphysis": "HP:0010595", + "Abnormality of the outermost end part of calf bone": "HP:0010595", + "Abnormality of the proximal radial epiphysis": "HP:0010596", + "Abnormality of the distal radial epiphysis": "HP:0010597", + "Abnormality of the proximal humeral epiphysis": "HP:0010598", + "Abnormality of the end part of the innermost long bone in upper arm": "HP:0010598", + "Abnormality of the distal humeral epiphysis": "HP:0010599", + "Abnormality of the end part of the outermost long bone in upper arm": "HP:0010599", + "Abnormal distal ulnar epiphysis morphology": "HP:0010600", + "Abnormality of the distal ulnar epiphysis": "HP:0010600", + "Abnormal proximal ulnar epiphysis morphology": "HP:0010601", + "Abnormality of the proximal ulnar epiphysis": "HP:0010601", + "Type 2 muscle fiber predominance": "HP:0010602", + "Type 2 muscle fibre predominance": "HP:0010602", + "Type II muscle fiber predominance": "HP:0010602", + "Type II muscle fibre predominance": "HP:0010602", + "Odontogenic keratocysts of the jaw": "HP:0010603", + "Keratocystic odontogenic tumor": "HP:0010603", + "Keratocystic odontogenic tumour": "HP:0010603", + "Keratocysts of the jaw": "HP:0010603", + "Cyst of the eyelid": "HP:0010604", + "Lesion of the eyelid": "HP:0010604", + "Eyelid bump": "HP:0010604", + "Eyelid mass": "HP:0010604", + "Chalazion": "HP:0010605", + "Meibomian gland lipogranuloma": "HP:0010605", + "Hordeolum": "HP:0010606", + "Stye of eyelid": "HP:0010606", + "Red bump on eyelid": "HP:0010606", + "Hordeolum externum": "HP:0010607", + "Hordeolum internum": "HP:0010608", + "Stye of inner eyelid": "HP:0010608", + "Red bump on inner eyelid": "HP:0010608", + "Skin tags": "HP:0010609", + "Acrochorda": "HP:0010609", + "Palmar pits": "HP:0010610", + "Plantar pits": "HP:0010612", + "Fibroma": "HP:0010614", + "Angiofibromas": "HP:0010615", + "Lung fibroma": "HP:0010616", + "Cardiac fibroma": "HP:0010617", + "Ovarian fibroma": "HP:0010618", + "Fibroadenoma of the breast": "HP:0010619", + "Breast fibroadenoma": "HP:0010619", + "Breast fibroadenomas": "HP:0010619", + "Breast fibroadenosis": "HP:0010619", + "Fibroadenosis - breast": "HP:0010619", + "Fibroadenosis of breast": "HP:0010619", + "Malar prominence": "HP:0010620", + "Malar excess": "HP:0010620", + "Malar hyperplasia": "HP:0010620", + "Prominent malar region": "HP:0010620", + "Hyperplasia of malar bones": "HP:0010620", + "Cutaneous syndactyly of toes": "HP:0010621", + "Cutaneous syndactyly of feet": "HP:0010621", + "Webbed skin of toes": "HP:0010621", + "soft tissue syndactyly of toes": "HP:0010621", + "Neoplasm of the skeletal system": "HP:0010622", + "Skeletal tumor": "HP:0010622", + "Skeletal tumour": "HP:0010622", + "Neoplasia of the skeletal system": "HP:0010622", + "Bone neoplasm": "HP:0010622", + "Aplastic/hypoplastic toenail": "HP:0010624", + "Absent/small toenails": "HP:0010624", + "Absent/underdeveloped toenails": "HP:0010624", + "Aplastic/hypoplastic toenails": "HP:0010624", + "Hypoplastic-absent toenails": "HP:0010624", + "Anterior pituitary dysgenesis": "HP:0010625", + "Adenohypophysis": "HP:0010625", + "Anterior pituitary agenesis": "HP:0010626", + "Absent pituitary gland": "HP:0010626", + "Aplasia of the pituitary gland": "HP:0010626", + "Anterior pituitary hypoplasia": "HP:0010627", + "Small anterior pituitary lobe": "HP:0010627", + "Underdeveloped pituitary gland": "HP:0010627", + "Hypoplasia of the pituitary gland": "HP:0010627", + "Facial palsy": "HP:0010628", + "Bell's palsy": "HP:0010628", + "Cranial nerve VII palsy": "HP:0010628", + "Facial nerve palsy": "HP:0010628", + "Facial nerve paralysis": "HP:0010628", + "Facial palsy, unilateral or bilateral": "HP:0010628", + "Seventh cranial nerve palsy": "HP:0010628", + "VII th cranial nerve palsy": "HP:0010628", + "Facial muscle weakness of muscles innervated by CN VII": "HP:0010628", + "Abnormal morphology of the cortex of the humerus": "HP:0010629", + "Abnormal metatarsal epiphysis morphology": "HP:0010630", + "Abnormality of end part of long bone of foot": "HP:0010630", + "Abnormality of metatarsal epiphysis": "HP:0010630", + "Abnormality of the epiphyses of the metatarsals": "HP:0010630", + "Abnormality of the epiphyses of the feet": "HP:0010631", + "Abnormality of the end part of the foot bone": "HP:0010631", + "Total anosmia": "HP:0010632", + "Partial anosmia": "HP:0010633", + "Total hyposmia": "HP:0010634", + "Partial hyposmia": "HP:0010635", + "Schizencephaly": "HP:0010636", + "Conjunctival amyloidosis": "HP:0010637", + "Elevated alkaline phosphatase of hepatic origin": "HP:0010638", + "Elevated ALP of hepatic origin": "HP:0010638", + "Elevated alkaline phosphatase of bone origin": "HP:0010639", + "Elevated ALP of bone origin": "HP:0010639", + "Increased serum bone-specific alkaline phosphatase": "HP:0010639", + "Abnormal nasal cavity morphology": "HP:0010640", + "Abnormality of the nasal cavity": "HP:0010640", + "Abnormality of the midnasal cavity": "HP:0010641", + "Midnasal atresia": "HP:0010643", + "Midnasal stenosis": "HP:0010644", + "Midnasal atresia or stenosis": "HP:0010644", + "Aplasia of the distal phalanges of the toes": "HP:0010645", + "Absent outermost bone of the toes": "HP:0010645", + "Cervical spine instability": "HP:0010646", + "Abnormal elasticity of skin": "HP:0010647", + "Dermal translucency": "HP:0010648", + "Translucent skin": "HP:0010648", + "Flat nasal alae": "HP:0010649", + "Depressed nasal alae": "HP:0010649", + "Flat nasal alar cartilage": "HP:0010649", + "Hypoplasia of the premaxilla": "HP:0010650", + "Decreased size of premaxilla": "HP:0010650", + "Decreased size of the primary palate bone": "HP:0010650", + "Hypoplasia of the intermaxillary bone": "HP:0010650", + "Hypoplasia of the primary palate bone": "HP:0010650", + "Premaxillary bone deficiency": "HP:0010650", + "Premaxillary underdevelopment": "HP:0010650", + "Primary palate bone deficiency": "HP:0010650", + "Small premaxilla": "HP:0010650", + "Small primary palate bone": "HP:0010650", + "Underdevelopment of premaxilla": "HP:0010650", + "Underdevelopment of the premaxilla": "HP:0010650", + "Underdevelopment of the primary palate bone": "HP:0010650", + "Premaxillary bone retrusion": "HP:0010650", + "Premaxillary retrusion": "HP:0010650", + "Primary palate bone retrusion": "HP:0010650", + "Abnormal meningeal morphology": "HP:0010651", + "Abnormality of the meninges": "HP:0010651", + "Abnormal dura mater morphology": "HP:0010652", + "Abnormality of the dura mater": "HP:0010652", + "Abnormality of the falx cerebri": "HP:0010653", + "Abnormality of the cerebral falx": "HP:0010653", + "Aplasia of the falx cerebri": "HP:0010654", + "Absent cerebral falx": "HP:0010654", + "Epiphyseal stippling": "HP:0010655", + "Epiphyseal punctate calcifications": "HP:0010655", + "Speckled calcifications in end part of bone": "HP:0010655", + "Stippled epiphyses": "HP:0010655", + "Stippling of the epiphyses": "HP:0010655", + "Abnormal epiphyseal ossification": "HP:0010656", + "Abnormality of the mineralisation or ossification of the epiphyses": "HP:0010656", + "Abnormal maturation of the end part of a bone": "HP:0010656", + "Patchy reduction of bone mineral density": "HP:0010657", + "Patchy changes of bone mineral density": "HP:0010658", + "Patchy variation in bone mineral density": "HP:0010659", + "Patchy increased and decreased bone mineral density": "HP:0010659", + "Abnormal hand bone ossification": "HP:0010660", + "Abnormal ossification of hand bones": "HP:0010660", + "Abnormality of the mineralisation and ossification of bones of the hand": "HP:0010660", + "Abnormal maturation of the hand bones": "HP:0010660", + "Absence of the third cerebral ventricle": "HP:0010661", + "Abnormal diencephalon morphology": "HP:0010662", + "Abnormality of the diencephalon": "HP:0010662", + "Abnormal thalamus morphology": "HP:0010663", + "Abnormal shape of thalamus": "HP:0010663", + "Abnormality of thalamus morphology": "HP:0010663", + "Abnormality of the thalamus": "HP:0010663", + "Fusion of the left and right thalami": "HP:0010664", + "Fused thalami": "HP:0010664", + "Undivided thalami": "HP:0010664", + "Fusion of thamali": "HP:0010664", + "Bilateral coxa valga": "HP:0010665", + "Hypoplasia of the anterior nasal spine": "HP:0010666", + "Decreased projection of anterior nasal spine": "HP:0010666", + "Decreased size of anterior nasal spine": "HP:0010666", + "Small anterior nasal spine": "HP:0010666", + "Underdevelopment of anterior nasal spine": "HP:0010666", + "Decreased length of anterior nasal spine": "HP:0010666", + "Deficiency of anterior nasal spine": "HP:0010666", + "Hypotrophic anterior nasal spine": "HP:0010666", + "Aplasia of the maxilla": "HP:0010667", + "Failure of development of upper jaw bones": "HP:0010667", + "Absence of the maxilla": "HP:0010667", + "Absence of upper jaw bones": "HP:0010667", + "Agenesis of the maxilla": "HP:0010667", + "Aplasia of the upper jaw bones": "HP:0010667", + "Failure of development of maxilla": "HP:0010667", + "Missing upper jaw bones": "HP:0010667", + "Abnormal zygomatic bone morphology": "HP:0010668", + "Abnormal malar bone morphology": "HP:0010668", + "Abnormality of the cheekbone": "HP:0010668", + "Abnormality of the zygomatic bone": "HP:0010668", + "Anomaly of the zygomatic bone": "HP:0010668", + "Deformity of the cheekbone": "HP:0010668", + "Deformity of the zygomatic bone": "HP:0010668", + "Malformation of the zygomatic bone": "HP:0010668", + "Hypoplasia of the zygomatic bone": "HP:0010669", + "Depressed cheekbone": "HP:0010669", + "Depressed zygomatic bone": "HP:0010669", + "Flattening of the zygomatic bone": "HP:0010669", + "Small cheekbone": "HP:0010669", + "Small malar bone": "HP:0010669", + "Small zygomatic bone": "HP:0010669", + "Cheekbone underdevelopment": "HP:0010669", + "Decreased size of cheekbone": "HP:0010669", + "Decreased size of zygomatic bone": "HP:0010669", + "Hypoplasia of cheekbone": "HP:0010669", + "Underdevelopment of cheekbone": "HP:0010669", + "Underdevelopment of zygomatic bone": "HP:0010669", + "Hypotrophic cheekbone": "HP:0010669", + "Hypotrophic zygomatic bone": "HP:0010669", + "Hypotrophy of the cheekbone": "HP:0010669", + "Hypotrophy of the zygomatic bone": "HP:0010669", + "Abnormality of the third metatarsal bone": "HP:0010672", + "Abnormality of the 3rd long bone of foot": "HP:0010672", + "Abnormal curvature of the vertebral column": "HP:0010674", + "Abnormal curve of the backbone": "HP:0010674", + "Abnormal curve of the spine": "HP:0010674", + "Abnormal curving of the spine": "HP:0010674", + "Abnormality of the curvature of the vertebral column": "HP:0010674", + "Curvature of spine": "HP:0010674", + "Curved spine": "HP:0010674", + "Abnormal foot bone ossification": "HP:0010675", + "Abnormality of the mineralisation and ossification of bones of the feet": "HP:0010675", + "Abnormal maturation of foot bones": "HP:0010675", + "Abnormal ossification involving bones of the feet": "HP:0010675", + "Mechanical ileus": "HP:0010676", + "Enuresis nocturna": "HP:0010677", + "Nocturnal enuresis": "HP:0010677", + "Enuresis diurna": "HP:0010678", + "Elevated tissue non-specific alkaline phosphatase": "HP:0010679", + "Elevated alkaline phosphatase, liver/bone/kidney": "HP:0010679", + "Elevated tissue non-specific ALP": "HP:0010679", + "Elevated alkaline phosphatase of renal origin": "HP:0010680", + "Elevated ALP of renal origin": "HP:0010680", + "Elevated intestinal alkaline phosphatase": "HP:0010681", + "Elevated intestinal ALP": "HP:0010681", + "Elevated placental alkaline phosphatase": "HP:0010682", + "Elevated placental ALP": "HP:0010682", + "Low tissue non-specific alkaline phosphatase": "HP:0010683", + "Low tissue non-specific ALP": "HP:0010683", + "Low alkaline phosphatase of bone origin": "HP:0010684", + "Low ALP of bone origin": "HP:0010684", + "Low alkaline phosphatase of renal origin": "HP:0010685", + "Low ALP of renal origin": "HP:0010685", + "Low alkaline phosphatase of hepatic origin": "HP:0010686", + "Low ALP of hepatic origin": "HP:0010686", + "Low intestinal alkaline phosphatase": "HP:0010687", + "Low intestinal ALP": "HP:0010687", + "Low placental alkaline phosphatase": "HP:0010688", + "Low placental ALP": "HP:0010688", + "Mirror image polydactyly": "HP:0010689", + "Mirror image duplication of digits": "HP:0010689", + "Mirror image hand polydactyly": "HP:0010690", + "Mirror image duplication of fingers": "HP:0010690", + "Mirror image foot polydactyly": "HP:0010691", + "Mirror image duplication of toes": "HP:0010691", + "obsolete 2-5 finger syndactyly": "HP:0010692", + "Pulverulent cataract": "HP:0010693", + "Lamellar pulverulent cataract": "HP:0010694", + "Sutural cataract": "HP:0010695", + "Polar cataract": "HP:0010696", + "Anterior pyramidal cataract": "HP:0010697", + "Pyramidal cataract": "HP:0010697", + "Nuclear pulverulent cataract": "HP:0010698", + "Central pulverulent cataract": "HP:0010698", + "Coppock-like cataract": "HP:0010698", + "Pulverulent nuclear cataract": "HP:0010698", + "cataracta pulverulenta centralis": "HP:0010698", + "Triangular nuclear cataract": "HP:0010699", + "obsolete Total cataract": "HP:0010700", + "Abnormal circulating immunoglobulin concentration": "HP:0010701", + "Abnormal immunoglobulin concentration": "HP:0010701", + "Abnormal immunoglobulin level": "HP:0010701", + "Abnormal serum immunoglobulin concentration": "HP:0010701", + "Abnormal serum immunoglobulin levels": "HP:0010701", + "Abnormal serum level of immunoglobulin": "HP:0010701", + "Immunoglobulin abnormality": "HP:0010701", + "Increased circulating antibody concentration": "HP:0010702", + "Elevated immunoglobulin levels": "HP:0010702", + "Hypergammaglobulinaemia": "HP:0010702", + "Hypergammaglobulinemia": "HP:0010702", + "Hyperglobulinemia": "HP:0010702", + "Increased antibody level in blood": "HP:0010702", + "Increased circulating antibody level": "HP:0010702", + "Increased gamma globulin": "HP:0010702", + "Increased immunoglobulin level": "HP:0010702", + "Increased serum gamma globulin": "HP:0010702", + "Raised immunoglobulin levels": "HP:0010702", + "1-2 finger cutaneous syndactyly": "HP:0010704", + "Webbed 1st-2nd finger": "HP:0010704", + "Webbed thumb and index finger": "HP:0010704", + "4-5 finger cutaneous syndactyly": "HP:0010705", + "Webbed 4th-5th finger": "HP:0010705", + "1-3 finger cutaneous syndactyly": "HP:0010706", + "Webbed 1st-3rd finger": "HP:0010706", + "1-4 finger cutaneous syndactyly": "HP:0010707", + "Webbed 1st-4th finger": "HP:0010707", + "1-5 finger cutaneous syndactyly": "HP:0010708", + "Webbed 1-5 fingers": "HP:0010708", + "Webbed 1st-5th fingers": "HP:0010708", + "2-4 finger cutaneous syndactyly": "HP:0010709", + "Syndactyly of second to fourth fingers": "HP:0010709", + "Webbed index through ring fingers": "HP:0010709", + "3-5 finger syndactyly": "HP:0010710", + "Webbed third, fourth and fifth toes": "HP:0010710", + "1-2 toe syndactyly": "HP:0010711", + "Webbed 1st-2nd toes": "HP:0010711", + "Webbed first and second toes": "HP:0010711", + "1-4 toe syndactyly": "HP:0010712", + "Webbed first through fourth toes": "HP:0010712", + "1-5 toe syndactyly": "HP:0010713", + "Syndactyly of all toes": "HP:0010713", + "Webbed 1st-5th toes": "HP:0010713", + "2-4 toe syndactyly": "HP:0010714", + "Syndactyly of toes 2, 3 and 4": "HP:0010714", + "Syndactyly toes 2-4": "HP:0010714", + "Webbed 2nd-4th toes": "HP:0010714", + "2-5 toe syndactyly": "HP:0010715", + "Webbed 2nd-5th toes": "HP:0010715", + "3-5 toe syndactyly": "HP:0010716", + "Webbed 3rd-5th toes": "HP:0010716", + "Osseous syndactyly of toes": "HP:0010717", + "Osseous syndactyly of the toes": "HP:0010717", + "Abnormality of hair texture": "HP:0010719", + "Abnormality of hair consistency": "HP:0010719", + "Abnormality of hair curl pattern": "HP:0010719", + "Abnormality of hair volume": "HP:0010719", + "Abnormal hair pattern": "HP:0010720", + "Abnormal distribution of hair": "HP:0010720", + "Abnormal hair whorl": "HP:0010721", + "Abnormal hair whorls": "HP:0010721", + "Abnormal whorl of hair": "HP:0010721", + "Asymmetry of the ears": "HP:0010722", + "Asymmetric ears": "HP:0010722", + "Cystic lesions of the pinnae": "HP:0010723", + "Advanced pneumatization of the mastoid process": "HP:0010724", + "Prominent corneal nerve fibers": "HP:0010726", + "Prominent corneal nerve fibres": "HP:0010726", + "Visible corneal nerve fibers": "HP:0010726", + "Visible corneal nerve fibres": "HP:0010726", + "Spontaneous rupture of the globe": "HP:0010727", + "Aplasia of the retina": "HP:0010728", + "Absent retina": "HP:0010728", + "Cherry red spot of the macula": "HP:0010729", + "Macular cherry red spot": "HP:0010729", + "Double eyebrow": "HP:0010730", + "Duplication of eyebrow": "HP:0010730", + "Extension of eyebrows towards upper eyelid": "HP:0010731", + "Nodular changes affecting the eyelids": "HP:0010732", + "Eyelid nodules": "HP:0010732", + "Naevus flammeus of the eyelid": "HP:0010733", + "Port-wine stain on eyelid": "HP:0010733", + "Fibrous dysplasia of the bones": "HP:0010734", + "Polyostotic fibrous dysplasia": "HP:0010735", + "Monostotic fibrous dysplasia": "HP:0010736", + "Osteopoikilosis": "HP:0010739", + "Osteopathia striata": "HP:0010740", + "Pedal edema": "HP:0010741", + "Edema of the lower limbs": "HP:0010741", + "Fluid accumulation in lower limbs": "HP:0010741", + "Leg edema": "HP:0010741", + "Leg oedema": "HP:0010741", + "Lower leg swelling": "HP:0010741", + "Oedema of the lower limbs": "HP:0010741", + "Pedal oedema": "HP:0010741", + "Peripheral edema of lower extremity": "HP:0010741", + "Peripheral oedema of lower extremity": "HP:0010741", + "Dependant edema": "HP:0010741", + "Dependant oedema": "HP:0010741", + "Edema of the upper limbs": "HP:0010742", + "Fluid accumulation in upper limbs": "HP:0010742", + "Oedema of the upper limbs": "HP:0010742", + "Short metatarsal": "HP:0010743", + "Hypoplasia of the metatarsal bones": "HP:0010743", + "Hypoplastic metatarsals": "HP:0010743", + "Short long bone of foot": "HP:0010743", + "Short metatarsal bone": "HP:0010743", + "Short metatarsals": "HP:0010743", + "Shortened metatarsals": "HP:0010743", + "Short metatarsal bones": "HP:0010743", + "Absent metatarsal bone": "HP:0010744", + "Absent long bone of foot": "HP:0010744", + "Aplasia of the metatarsal bones": "HP:0010744", + "Aplasia of the phalanges of the toes": "HP:0010745", + "Absent bones of the toes": "HP:0010745", + "Aphalangia of the toes": "HP:0010745", + "Hypoplasia of the phalanges of the toes": "HP:0010746", + "Small toe bones": "HP:0010746", + "Medial flaring of the eyebrow": "HP:0010747", + "Medially flared eyebrows": "HP:0010747", + "Ectopic lacrimal punctum": "HP:0010748", + "Abnormal position of the lacrimal punctum": "HP:0010748", + "Blepharochalasis": "HP:0010749", + "Saggy upper eyelid skin": "HP:0010749", + "Dermatochalasis": "HP:0010750", + "Baggy eyes": "HP:0010750", + "Droopy eyelid skin": "HP:0010750", + "Extra eyelid skin": "HP:0010750", + "Eyelid dermatochalasia": "HP:0010750", + "Redundant eyelid skin": "HP:0010750", + "Hooding of eyelids": "HP:0010750", + "Dimple chin": "HP:0010751", + "Chin butt": "HP:0010751", + "Chin dent": "HP:0010751", + "Chin dimple": "HP:0010751", + "Chin skin dimple": "HP:0010751", + "Gelasin of chin": "HP:0010751", + "Indentation of chin": "HP:0010751", + "Chin dimples": "HP:0010751", + "Cleft mandible": "HP:0010752", + "Cleft lower jaw": "HP:0010752", + "Mandibular cleft": "HP:0010752", + "Midline defect of mandible": "HP:0010753", + "Midline cleft of mandible": "HP:0010753", + "Abnormality of the temporomandibular joint": "HP:0010754", + "Abnormality of the jaw joint": "HP:0010754", + "Anomaly of the temporomandibular joint": "HP:0010754", + "Deformity of the jaw joint": "HP:0010754", + "Malformation of jaw joint": "HP:0010754", + "Deformity of the temporomandibular joint": "HP:0010754", + "Derangement of the temporomandibular joint": "HP:0010754", + "Malformation of the temporomandibular joint": "HP:0010754", + "Asymmetry of the maxilla": "HP:0010755", + "Asymmetry of the upper jaw": "HP:0010755", + "Asymmetry of upper jaw": "HP:0010755", + "Crooked upper jaw": "HP:0010755", + "Asymmetry of right and left side of the maxilla": "HP:0010755", + "Canted maxilla": "HP:0010755", + "Canted upper jaw": "HP:0010755", + "Crooked maxilla": "HP:0010755", + "Tilted maxilla": "HP:0010755", + "Tilted upper jaw": "HP:0010755", + "Unequal sides of maxilla": "HP:0010755", + "Uneven maxilla": "HP:0010755", + "Uneven upper jaw": "HP:0010755", + "Deviation of the maxilla": "HP:0010755", + "Deviation of the upper jaw": "HP:0010755", + "Aplasia/Hypoplasia of the premaxilla": "HP:0010756", + "Aplasia/hypoplasia of the intermaxillary bone": "HP:0010756", + "Aplasia/hypoplasia of the primary palate bone": "HP:0010756", + "Aplasia of the premaxilla": "HP:0010757", + "Absence of the intermaxillary bone": "HP:0010757", + "Absence of the premaxilla": "HP:0010757", + "Absence of the primary palate bone": "HP:0010757", + "Aplasia of the intermaxillary bone": "HP:0010757", + "Aplasia of the primary palate bone": "HP:0010757", + "Failure of development of premaxilla": "HP:0010757", + "Failure of development of the primary palate bone": "HP:0010757", + "Missing premaxilla": "HP:0010757", + "Missing primary palate bone": "HP:0010757", + "Abnormality of the premaxilla": "HP:0010758", + "Abnormality of the intermaxillary bone": "HP:0010758", + "Abnormality of the intermaxillary segment of the maxilla": "HP:0010758", + "Abnormality of the premaxillary bone": "HP:0010758", + "Abnormality of the primary palate bone": "HP:0010758", + "Prominence of the premaxilla": "HP:0010759", + "Anterior position of the premaxilla": "HP:0010759", + "Anterior position of the primary palate bone": "HP:0010759", + "Premaxillary bone excess": "HP:0010759", + "Prominence of the intermaxillary bone": "HP:0010759", + "Prominence of the primary palate bone": "HP:0010759", + "Prominent premaxilla": "HP:0010759", + "Absent toe": "HP:0010760", + "Absent toes": "HP:0010760", + "Aplasia of toe": "HP:0010760", + "Aplasia of the toes": "HP:0010760", + "Broad columella": "HP:0010761", + "Columella, broad": "HP:0010761", + "Columella, wide": "HP:0010761", + "Fullness of columella": "HP:0010761", + "Increased width of columella": "HP:0010761", + "Hyperplasia of columella": "HP:0010761", + "Chordoma": "HP:0010762", + "Low insertion of columella": "HP:0010763", + "Ala higher than columella": "HP:0010763", + "Columella, low insertion": "HP:0010763", + "Short eyelashes": "HP:0010764", + "Decreased length of eyelashes": "HP:0010764", + "Palmar hyperkeratosis": "HP:0010765", + "Ectopic calcification": "HP:0010766", + "Sacrococcygeal pilonidal abnormality": "HP:0010767", + "Pilonidal sinus": "HP:0010769", + "Pilonidal cyst": "HP:0010769", + "Pilonidal fistula": "HP:0010770", + "Pilonidal abscess": "HP:0010771", + "Sacrococcygeal fistula": "HP:0010771", + "Anomalous pulmonary venous return": "HP:0010772", + "Partial anomalous pulmonary venous return": "HP:0010773", + "Partial anomalous pulmonary venous connection": "HP:0010773", + "Cor triatriatum": "HP:0010774", + "Triatrial heart": "HP:0010774", + "Vascular ring": "HP:0010775", + "Vascular ring of aorta": "HP:0010775", + "Tracheobronchmegaly": "HP:0010776", + "Bronchomegaly": "HP:0010777", + "Tracheomegaly": "HP:0010778", + "Large pelvis bone": "HP:0010779", + "Large pelvis": "HP:0010779", + "Hyperacusis": "HP:0010780", + "Skin dimple": "HP:0010781", + "Skin dimples": "HP:0010781", + "Shoulder dimple": "HP:0010782", + "Acromial dimple": "HP:0010782", + "Bi-acromial dimples": "HP:0010782", + "Shoulder dimples": "HP:0010782", + "Erythema": "HP:0010783", + "Redness of skin or mucous membrane": "HP:0010783", + "Uterine neoplasm": "HP:0010784", + "Uterine cancer": "HP:0010784", + "Uterine tumor": "HP:0010784", + "Uterine tumour": "HP:0010784", + "Uterine neoplasia": "HP:0010784", + "Gonadal neoplasm": "HP:0010785", + "Gonadal neoplasia": "HP:0010785", + "Urinary tract neoplasm": "HP:0010786", + "Urinary tract neoplasia": "HP:0010786", + "Genital neoplasm": "HP:0010787", + "Genital tumor": "HP:0010787", + "Genital tumour": "HP:0010787", + "Genital neoplasia": "HP:0010787", + "Testicular neoplasm": "HP:0010788", + "Testicular cancer": "HP:0010788", + "Testicular tumor": "HP:0010788", + "Testicular tumour": "HP:0010788", + "Testicular neoplasia": "HP:0010788", + "Abnormality of the Leydig cells": "HP:0010789", + "Hypoplasia of the Leydig cells": "HP:0010790", + "Hyperplasia of the Leydig cells": "HP:0010791", + "Bifid nail": "HP:0010793", + "Notched nail": "HP:0010793", + "duplicated nail": "HP:0010793", + "Impaired visuospatial constructive cognition": "HP:0010794", + "Cerebellar glioma": "HP:0010795", + "Brainstem glioma": "HP:0010796", + "Hemangioblastoma": "HP:0010797", + "Haemangioblastoma": "HP:0010797", + "Lip freckle": "HP:0010798", + "Ephelis of lip": "HP:0010798", + "Labial lentigo": "HP:0010798", + "Lip lentigo": "HP:0010798", + "Pinealoma": "HP:0010799", + "Absent cupid's bow": "HP:0010800", + "Agenesis of cupid's bow": "HP:0010800", + "Failure of development of cupid's bow": "HP:0010800", + "Lack of cupid's bow": "HP:0010800", + "Missing cupid's bow": "HP:0010800", + "Aplasia of cupid's bow": "HP:0010800", + "Underdeveloped nasolabial fold": "HP:0010801", + "Flat nasolabial fold": "HP:0010801", + "Nasolabial crease, hypoplastic": "HP:0010801", + "Nasolabial crease, underdeveloped": "HP:0010801", + "Nasolabial fold, hypoplastic": "HP:0010801", + "Shallow nasolabial fold": "HP:0010801", + "Perioral hyperpigmentation": "HP:0010802", + "Darkening of skin around the mouth": "HP:0010802", + "Increased pigmentation around the mouth": "HP:0010802", + "Everted upper lip vermilion": "HP:0010803", + "Eclabium of upper lip": "HP:0010803", + "Everted prominent upper lip": "HP:0010803", + "Everted upper lip": "HP:0010803", + "Outward turned upper lip": "HP:0010803", + "Drooping upper lip": "HP:0010803", + "Protruding upper lip": "HP:0010803", + "Tented upper lip vermilion": "HP:0010804", + "Inverted V-shaped upper lip": "HP:0010804", + "Tented mouth": "HP:0010804", + "Tented upper lip": "HP:0010804", + "Upturned corners of mouth": "HP:0010805", + "Upturned mouth": "HP:0010805", + "Upturned oral commisures": "HP:0010805", + "U-Shaped upper lip vermilion": "HP:0010806", + "Carp-like mouth": "HP:0010806", + "Carp-shaped mouth": "HP:0010806", + "Fish mouth": "HP:0010806", + "Large, carp-shaped mouth": "HP:0010806", + "Wide, carp-shaped mouth": "HP:0010806", + "Open bite": "HP:0010807", + "Absence of overlap of upper and lower teeth": "HP:0010807", + "Open bite between upper and lower teeth": "HP:0010807", + "Protruding tongue": "HP:0010808", + "Lingual prolapse": "HP:0010808", + "Lingual prominence": "HP:0010808", + "Lingual protrusion": "HP:0010808", + "Prolapse of tongue": "HP:0010808", + "Prominent tongue": "HP:0010808", + "Tongue protrusion": "HP:0010808", + "Tongue sticking out of mouth": "HP:0010808", + "Broad uvula": "HP:0010809", + "Wide uvula": "HP:0010809", + "Long uvula": "HP:0010810", + "Hyperplasia of uvula": "HP:0010810", + "Long palatine uvula": "HP:0010810", + "Elongated uvula": "HP:0010810", + "Narrow uvula": "HP:0010811", + "Narrow palatine uvula": "HP:0010811", + "Thin uvula": "HP:0010811", + "Short uvula": "HP:0010812", + "Hypoplastic uvula": "HP:0010812", + "Short palatine uvula": "HP:0010812", + "Blunt uvula": "HP:0010812", + "Abnormal number of hair whorls": "HP:0010813", + "Abnormal number of hair swirls": "HP:0010813", + "Double crown (hair whorls)": "HP:0010813", + "Extra hair swirls": "HP:0010813", + "Extra hair whorl": "HP:0010813", + "Supernumary hair swirls": "HP:0010813", + "Supernumary hair whorl": "HP:0010813", + "Abnormal position of hair whorl": "HP:0010814", + "Abnormal location of hair swirl": "HP:0010814", + "Nevus sebaceous": "HP:0010815", + "Naevus sebaceous": "HP:0010815", + "Organoid nevus": "HP:0010815", + "Sebaceous mole": "HP:0010815", + "Sebaceous naevus": "HP:0010815", + "Sebaceous nevus": "HP:0010815", + "Epidermal nevus": "HP:0010816", + "Epidermal nevi": "HP:0010816", + "Linear nevus sebaceous": "HP:0010817", + "Generalized tonic seizure": "HP:0010818", + "Generalised hypertonic seizure": "HP:0010818", + "Generalised tonic seizure": "HP:0010818", + "Generalised tonic seizures": "HP:0010818", + "Generalized hypertonic seizure": "HP:0010818", + "Generalized tonic seizures": "HP:0010818", + "Hypertonic seizures": "HP:0010818", + "Atonic seizure": "HP:0010819", + "Astatic seizure": "HP:0010819", + "Astatic seizures": "HP:0010819", + "Atonic seizures": "HP:0010819", + "Drop attacks": "HP:0010819", + "Drop seizures": "HP:0010819", + "Hypotonic seizure": "HP:0010819", + "Hypotonic seizures": "HP:0010819", + "Sudden loss of muscle tone": "HP:0010819", + "Focal emotional seizure with crying": "HP:0010820", + "Dacrystic seizure": "HP:0010820", + "Dacrystic seizures": "HP:0010820", + "Focal emotional seizure with laughing": "HP:0010821", + "Gelastic seizure": "HP:0010821", + "Gelastic seizures": "HP:0010821", + "Scintillating scotoma": "HP:0010822", + "Ridged cranial sutures": "HP:0010823", + "Cranial suture ridges": "HP:0010823", + "Abnormal fifth cranial nerve morphology": "HP:0010824", + "Abnormal trigeminal nerve morphology": "HP:0010824", + "Abnormality of the fifth cranial nerve": "HP:0010824", + "Abnormality of the nervus trigeminus": "HP:0010824", + "Abnormality of the eleventh cranial nerve": "HP:0010825", + "Abnormality of cranial nerve XI": "HP:0010825", + "Abnormality of the accessory nerve": "HP:0010825", + "Abnormality of the twelfth cranial nerve": "HP:0010826", + "Abnormality of cranial nerve 12": "HP:0010826", + "Abnormality of cranial nerve xii": "HP:0010826", + "Abnormality of the hypoglossal nerve": "HP:0010826", + "Abnormal seventh cranial physiology": "HP:0010827", + "Abnormality of the facial nerve": "HP:0010827", + "Hemifacial spasm": "HP:0010828", + "Spasms on one side of the face": "HP:0010828", + "Hemifacial spasms": "HP:0010828", + "Impaired temperature sensation": "HP:0010829", + "Abnormality of temperature sensation": "HP:0010829", + "Impaired thermal sensitivity": "HP:0010829", + "Loss of temperature sensation": "HP:0010829", + "Impaired tactile sensation": "HP:0010830", + "Abnormal thigmesthesia": "HP:0010830", + "Impaired touch sensation": "HP:0010830", + "Loss of tactile sensation": "HP:0010830", + "Impaired proprioception": "HP:0010831", + "Abnormality of proprioception": "HP:0010831", + "Abnormality of pain sensation": "HP:0010832", + "Spontaneous pain sensation": "HP:0010833", + "Trophic changes related to pain": "HP:0010834", + "Trophic changes": "HP:0010834", + "Dissociated sensory loss": "HP:0010835", + "Abnormal circulating copper concentration": "HP:0010836", + "Abnormal copper levels": "HP:0010836", + "Decreased circulating ceruloplasmin concentration": "HP:0010837", + "Decreased serum ceruloplasmin": "HP:0010837", + "Decreased serum ceruloplasminA": "HP:0010837", + "Hypoceruloplasminaemia": "HP:0010837", + "Hypoceruloplasminemia": "HP:0010837", + "High nonceruloplasmin-bound serum copper": "HP:0010838", + "Increased urinary copper concentration": "HP:0010839", + "Multifocal epileptiform discharges": "HP:0010841", + "Multifocal EEG abnormality": "HP:0010841", + "EEG with focal slow activity": "HP:0010843", + "EEG: focal slow activity": "HP:0010843", + "EEG: localised slow activity": "HP:0010843", + "EEG: localized slow activity": "HP:0010843", + "EEG with multifocal slow activity": "HP:0010844", + "EEG with generalized slow activity": "HP:0010845", + "EEG with generalised slow activity": "HP:0010845", + "EEG: generalised slow activity": "HP:0010845", + "EEG: generalized slow activity": "HP:0010845", + "EEG with persistent abnormal rhythmic activity": "HP:0010846", + "EEG: persistent abnormal rhythmic activity": "HP:0010846", + "EEG with spike-wave complexes (<2.5 Hz)": "HP:0010847", + "Electroencephalogram demonstrated spike-slow wave discharges": "HP:0010847", + "EEG with spike-wave complexes (2.5-3.5 Hz)": "HP:0010848", + "EEG with spike-wave complexes (>3.5 Hz)": "HP:0010849", + "EEG with 3-4-Hz spike waves": "HP:0010849", + "EEG with spike-wave complexes": "HP:0010850", + "EEG with burst suppression": "HP:0010851", + "EEG with photoparoxysmal response": "HP:0010852", + "Photoparoxysmal response on EEG": "HP:0010852", + "EEG with periodic lateralized epileptiform discharges": "HP:0010853", + "EEG: periodic lateralized epileptiform discharges": "HP:0010853", + "EEG with generalized low amplitude activity": "HP:0010854", + "EEG with generalised low amplitude activity": "HP:0010854", + "EEG: generalised low amplitude activity": "HP:0010854", + "EEG: generalized low amplitude activity": "HP:0010854", + "EEG with localized low amplitude activity": "HP:0010855", + "EEG with localised low amplitude activity": "HP:0010855", + "EEG: localised low amplitude activity": "HP:0010855", + "EEG: localized low amplitude activity": "HP:0010855", + "EEG with periodic complexes": "HP:0010856", + "EEG: periodic complexes": "HP:0010856", + "Radermecker complexes": "HP:0010856", + "EEG with periodic abnormalities": "HP:0010857", + "EEG: periodic abnormalities": "HP:0010857", + "EEG with hyperventilation-induced epileptiform discharges": "HP:0010858", + "Frank breech presentation": "HP:0010859", + "Complete breech presentation": "HP:0010860", + "Incomplete breech presentation": "HP:0010861", + "Delayed fine motor development": "HP:0010862", + "Receptive language delay": "HP:0010863", + "Intellectual disability, severe": "HP:0010864", + "Early and severe mental retardation": "HP:0010864", + "Mental retardation, severe": "HP:0010864", + "Severe mental retardation": "HP:0010864", + "Oppositional defiant disorder": "HP:0010865", + "ODD": "HP:0010865", + "Abdominal wall defect": "HP:0010866", + "Congenital anterior abdominal wall defect": "HP:0010866", + "Dyssynergia": "HP:0010867", + "Ocular dyssynergia": "HP:0010868", + "Asynergia": "HP:0010869", + "Sensory ataxia": "HP:0010871", + "Afferent ataxia": "HP:0010871", + "Ataxia, sensory": "HP:0010871", + "Spinal ataxia": "HP:0010871", + "T-wave inversion": "HP:0010872", + "EKG: T-wave inversion": "HP:0010872", + "Cervical spinal cord atrophy": "HP:0010873", + "Tendon xanthomatosis": "HP:0010874", + "Tendon xanthomas": "HP:0010874", + "Chaddock reflex": "HP:0010875", + "Abnormal circulating protein concentration": "HP:0010876", + "Abnormal circulating protein level": "HP:0010876", + "Abnormality of circulating protein level": "HP:0010876", + "Blood protein disease": "HP:0010876", + "Serum protein abnormality": "HP:0010876", + "Monocular strabismus": "HP:0010877", + "Unilateral strabismus": "HP:0010877", + "Fetal cystic hygroma": "HP:0010878", + "Foetal cystic hygroma": "HP:0010878", + "Postnatal cystic hygroma": "HP:0010879", + "Increased nuchal translucency": "HP:0010880", + "Abnormality of the umbilical cord": "HP:0010881", + "Umbilical cord issue": "HP:0010881", + "Pulmonary valve atresia": "HP:0010882", + "Aortic valve atresia": "HP:0010883", + "Aortic atresia": "HP:0010883", + "Acromelia": "HP:0010884", + "Avascular necrosis": "HP:0010885", + "Aseptic bone necrosis": "HP:0010885", + "Aseptic necrosis": "HP:0010885", + "Bone infarction": "HP:0010885", + "Death of bone due to decreased blood supply": "HP:0010885", + "Ischaemic bone necrosis": "HP:0010885", + "Ischemic bone necrosis": "HP:0010885", + "Osteochondronecrosis": "HP:0010885", + "Osteonecrosis": "HP:0010885", + "Osteochondritis dissecans": "HP:0010886", + "Osteochondrosis dissecans": "HP:0010886", + "Morbus Koehler": "HP:0010888", + "Morbus Kienboeck": "HP:0010889", + "Kienboeck's disease": "HP:0010889", + "Kienb\u00f6ck's disease": "HP:0010889", + "Lunatomalacia": "HP:0010889", + "Morbus Osgood-Schlatter": "HP:0010890", + "Osgood Schlatter disease": "HP:0010890", + "Morbus Scheuermann": "HP:0010891", + "Calve disease": "HP:0010891", + "Juvenile osteochondrosis of the spine": "HP:0010891", + "Scheuermann disease": "HP:0010891", + "Scheuermann kyphosis": "HP:0010891", + "Sherman's Disease": "HP:0010891", + "Abnormal circulating branched chain amino acid concentration": "HP:0010892", + "Abnormal circulating phenylalanine concentration": "HP:0010893", + "Abnormality of phenylalanine metabolism": "HP:0010893", + "Abnormal circulating serine family amino acid concentration": "HP:0010894", + "Abnormality of serine family amino acid metabolism": "HP:0010894", + "Abnormal circulating glycine concentration": "HP:0010895", + "Hypersarcosinemia": "HP:0010896", + "High plasma sarcosine levels": "HP:0010896", + "Hypersarcosinuria": "HP:0010897", + "High urine sarcosine levels": "HP:0010897", + "Abnormal circulating sarcosine concentration": "HP:0010898", + "Abnormal circulating aspartate family amino acid concentration": "HP:0010899", + "Abnormal circulating threonine concentration": "HP:0010900", + "Abnormality of threonine metabolism": "HP:0010900", + "Abnormal circulating methionine concentration": "HP:0010901", + "Abnormality of methionine metabolism": "HP:0010901", + "Abnormal circulating glutamine family amino acid concentration": "HP:0010902", + "Abnormal circulating glutamine concentration": "HP:0010903", + "Abnormal circulating histidine concentration": "HP:0010904", + "Abnormality of histidine metabolism": "HP:0010904", + "obsolete Abnormality of histidine metabolism": "HP:0010905", + "Hyperhistidinemia": "HP:0010906", + "High blood histidine level": "HP:0010906", + "Histidinemia": "HP:0010906", + "Abnormal circulating proline concentration": "HP:0010907", + "Abnormal circulating lysine concentration": "HP:0010908", + "Abnormality of lysine metabolism": "HP:0010908", + "Abnormal circulating arginine concentration": "HP:0010909", + "Abnormality of arginine metabolism": "HP:0010909", + "Hypervalinemia": "HP:0010910", + "High blood valine concentration": "HP:0010910", + "Hyperleucinemia": "HP:0010911", + "High blood leucine concentration": "HP:0010911", + "Abnormal circulating isoleucine concentration": "HP:0010912", + "Hyperisoleucinemia": "HP:0010913", + "High blood isoleucine concentration": "HP:0010913", + "Abnormal circulating valine concentration": "HP:0010914", + "Abnormality of valine metabolism": "HP:0010914", + "Abnormal circulating pyruvate family amino acid concentration": "HP:0010915", + "Abnormality of pyruvate family amino acid metabolism": "HP:0010915", + "Abnormal circulating alanine concentration": "HP:0010916", + "Abnormality of alanine metabolism": "HP:0010916", + "Abnormal circulating tyrosine concentration": "HP:0010917", + "Abnormal circulating cysteine concentration": "HP:0010918", + "Abnormal circulating homocysteine concentration": "HP:0010919", + "Zonular cataract": "HP:0010920", + "Coralliform cataract": "HP:0010921", + "Membranous cataract": "HP:0010922", + "Anterior subcapsular cataract": "HP:0010923", + "Posterior cortical cataract": "HP:0010924", + "Nuclear punctate cataract": "HP:0010925", + "Aculeiform cataract": "HP:0010926", + "Fasciculiform cataract": "HP:0010926", + "Frosted cataract": "HP:0010926", + "Needle-shaped cataract": "HP:0010926", + "Abnormal blood inorganic cation concentration": "HP:0010927", + "Abnormality of divalent inorganic cation homeostasis": "HP:0010927", + "obsolete Increased urinary orotic acid concentration": "HP:0010928", + "Abnormal blood cation concentration": "HP:0010929", + "Abnormality of cation homeostasis": "HP:0010929", + "Abnormal blood monovalent inorganic cation concentration": "HP:0010930", + "Abnormality of monovalent inorganic cation homeostasis": "HP:0010930", + "Abnormal blood sodium concentration": "HP:0010931", + "Abnormal blood Na+ levels": "HP:0010931", + "Abnormal circulating Na concentration": "HP:0010931", + "Abnormality of sodium homeostasis": "HP:0010931", + "Abnormal circulating nucleobase concentration": "HP:0010932", + "Abnormal nucleoside levels": "HP:0010932", + "Hyperxanthinemia": "HP:0010933", + "Increased circulating xanthine concentration": "HP:0010933", + "Xanthinuria": "HP:0010934", + "Increased urinary xanthine": "HP:0010934", + "Abnormality of the upper urinary tract": "HP:0010935", + "Abnormality of the lower urinary tract": "HP:0010936", + "Abnormal nasal skeleton morphology": "HP:0010937", + "Abnormality of the nasal skeleton": "HP:0010937", + "Anomaly of the nasal skeleton": "HP:0010937", + "Deformity of the bones of the nose": "HP:0010937", + "Deformity of the nasal skeleton": "HP:0010937", + "Distortion of the bones of the nose": "HP:0010937", + "Distortion of the nasal skeleton": "HP:0010937", + "Malformation of the bones of the nose": "HP:0010937", + "Malformation of the nasal skeleton": "HP:0010937", + "Abnormal external nose morphology": "HP:0010938", + "Abnormality of the external nose": "HP:0010938", + "Anomaly of the external nose": "HP:0010938", + "Deformity of the external nose": "HP:0010938", + "Malformation of the external nose": "HP:0010938", + "Abnormal nasal bone morphology": "HP:0010939", + "Abnormality of the nasal bone": "HP:0010939", + "Anomaly of the nasal bones": "HP:0010939", + "Deformity of the nasal bones": "HP:0010939", + "Malformation of the nasal bones": "HP:0010939", + "Aplasia/Hypoplasia of the nasal bone": "HP:0010940", + "Aplasia of the nasal bone": "HP:0010941", + "Failure of development of the nasal bone": "HP:0010941", + "Lack of development of the nasal bone": "HP:0010941", + "Absence of the nasal bone": "HP:0010941", + "Agenesis of the nasal bone": "HP:0010941", + "Missing nasal bone": "HP:0010941", + "Echogenic intracardiac focus": "HP:0010942", + "Echogenic fetal bowel": "HP:0010943", + "Echogenic bowel": "HP:0010943", + "Echogenic foetal bowel": "HP:0010943", + "Hyperechogenic fetal bowel": "HP:0010943", + "Hyperechogenic foetal bowel": "HP:0010943", + "Prenatal ultrasound: hyperechogenic bowel": "HP:0010943", + "Abnormal renal pelvis morphology": "HP:0010944", + "Abnormality of the renal pelvis": "HP:0010944", + "Fetal pyelectasis": "HP:0010945", + "Fetal renal pelvic dilatation": "HP:0010945", + "Foetal pyelectasis": "HP:0010945", + "Foetal renal pelvic dilatation": "HP:0010945", + "Mild fetal hydronephrosis": "HP:0010945", + "Mild foetal hydronephrosis": "HP:0010945", + "Dilatation of the renal pelvis": "HP:0010946", + "Abnormality of ductus venosus blood flow": "HP:0010947", + "Abnormal fetal cardiovascular morphology": "HP:0010948", + "Abnormality of the fetal cardiovascular system": "HP:0010948", + "Abnormality of the fetal circulation system": "HP:0010948", + "Abnormality of the foetal cardiovascular system": "HP:0010948", + "Abnormality of the foetal circulation system": "HP:0010948", + "Abnormality of umbilical vein blood flow": "HP:0010949", + "Abnormal fourth ventricle morphology": "HP:0010950", + "Abnormality of the fourth ventricle": "HP:0010950", + "Abnormal third ventricle morphology": "HP:0010951", + "Abnormality of the third ventricle": "HP:0010951", + "Mild fetal ventriculomegaly": "HP:0010952", + "Mild foetal ventriculomegaly": "HP:0010952", + "Noncommunicating hydrocephalus": "HP:0010953", + "Hypoplastic right heart": "HP:0010954", + "Hypoplastic right heart syndrome": "HP:0010954", + "Underdeveloped right heart": "HP:0010954", + "Dilatation of the bladder": "HP:0010955", + "Fetal megacystis": "HP:0010956", + "Foetal megacystis": "HP:0010956", + "Congenital posterior urethral valve": "HP:0010957", + "COPUM": "HP:0010957", + "Congenital obstructing posterior urethral membranes": "HP:0010957", + "Posterior urethral valve": "HP:0010957", + "Posterior urethral valves": "HP:0010957", + "Bilateral renal agenesis": "HP:0010958", + "Congenital pulmonary airway malformation": "HP:0010959", + "CCAM": "HP:0010959", + "Congenital cystic adenomatoid malformation": "HP:0010959", + "Congenital cystic adenomatoid malformation of the lung": "HP:0010959", + "Congenital cystic disease of the lung": "HP:0010959", + "Cystic adenomatoid lung disease": "HP:0010959", + "obsolete Bronchopulmonary sequestration": "HP:0010960", + "obsolete Intralobar sequestration": "HP:0010961", + "obsolete Extralobar sequestration": "HP:0010962", + "Absence of stomach bubble on fetal sonography": "HP:0010963", + "Absence of stomach bubble on foetal sonography": "HP:0010963", + "Absent stomach bubble": "HP:0010963", + "Non-visualisation of the fetal stomach": "HP:0010963", + "Non-visualisation of the foetal stomach": "HP:0010963", + "Abnormal circulating long-chain fatty-acid concentration": "HP:0010964", + "Abnormal circulating phytanic acid concentration": "HP:0010965", + "Abnormal circulating phytanic acid level": "HP:0010965", + "Abnormal circulating fatty-acid anion concentration": "HP:0010966", + "Abnormality of fatty acid anion": "HP:0010966", + "Abnormal circulating carnitine concentration": "HP:0010967", + "Carnitine levels abnormal": "HP:0010967", + "Abnormality of liposaccharide metabolism": "HP:0010968", + "Abnormality of glycolipid metabolism": "HP:0010969", + "Blood group antigen abnormality": "HP:0010970", + "Absence of Lutheran antigen on erythrocytes": "HP:0010971", + "Anemia of inadequate production": "HP:0010972", + "Anaemia of inadequate production": "HP:0010972", + "Anemia, dyserythropoietic": "HP:0010972", + "Defective erythropoiesis": "HP:0010972", + "Dyserythropoietic anaemia": "HP:0010972", + "Dyserythropoietic anemia": "HP:0010972", + "Ineffective erythropoiesis": "HP:0010972", + "Abnormal myeloid leukocyte morphology": "HP:0010974", + "Abnormality of myeloid leukocytes": "HP:0010974", + "Abnormal B cell count": "HP:0010975", + "Abnormal number of B cells": "HP:0010975", + "Abnormal numbers of B cells": "HP:0010975", + "Abnormality of B cell count": "HP:0010975", + "Abnormality of B cell numbers": "HP:0010975", + "B lymphocytopenia": "HP:0010976", + "B cell deficiency": "HP:0010976", + "B cell lymphopenia": "HP:0010976", + "Decreased B cell count": "HP:0010976", + "Low B cell count": "HP:0010976", + "Reduction in B cell number": "HP:0010976", + "Abnormal phagocytosis": "HP:0010977", + "Abnormality of immune system physiology": "HP:0010978", + "Abnormality of lipoprotein cholesterol concentration": "HP:0010979", + "Abnormality of the level of lipoprotein cholesterol": "HP:0010979", + "Hyperlipoproteinemia": "HP:0010980", + "Hypolipoproteinemia": "HP:0010981", + "Lack of fat in blood": "HP:0010981", + "Polygenic inheritance": "HP:0010982", + "Common, complex disease": "HP:0010982", + "Complex disease": "HP:0010982", + "Multifactorial inheritance": "HP:0010982", + "Oligogenic inheritance": "HP:0010983", + "Digenic inheritance": "HP:0010984", + "obsolete Gonosomal inheritance": "HP:0010985", + "Abnormal cellular immune system morphology": "HP:0010987", + "Abnormality of the extrinsic pathway": "HP:0010988", + "Abnormality of the intrinsic pathway": "HP:0010989", + "Abnormality of the common coagulation pathway": "HP:0010990", + "Abnormal morphology of the abdominal musculature": "HP:0010991", + "Abnormality of the abdominal musculature": "HP:0010991", + "Stress urinary incontinence": "HP:0010992", + "Abnormal cerebral subcortex morphology": "HP:0010993", + "Abnormality of the cerebral medulla": "HP:0010993", + "Abnormality of the cerebral subcortex": "HP:0010993", + "Abnormal corpus striatum morphology": "HP:0010994", + "Abnormality of the neostriatum": "HP:0010994", + "Abnormality of the striate nucleus": "HP:0010994", + "Abnormality of the striatum": "HP:0010994", + "Abnormal circulating dicarboxylic acid concentration": "HP:0010995", + "Abnormal circulating monocarboxylic acid concentration": "HP:0010996", + "Chromosomal breakage induced by ionizing radiation": "HP:0010997", + "Chromosomal breakage induced by ionising radiation": "HP:0010997", + "Increased cellular radiosensitivity": "HP:0010997", + "Radiation-induced chromosome instability": "HP:0010997", + "Increased susceptibility to spontaneous sister chromatid exchange": "HP:0010998", + "Aplasia of the optic tract": "HP:0010999", + "Absent optic tract": "HP:0010999", + "Aplasia/Hypoplasia of the optic tract": "HP:0011000", + "Absent/small optic tract": "HP:0011000", + "Absent/underdeveloped optic tract": "HP:0011000", + "Increased bone mineral density": "HP:0011001", + "Increased bone density": "HP:0011001", + "Osteosclerosis": "HP:0011001", + "Osteosclerosis of bones": "HP:0011001", + "Osteopetrosis": "HP:0011002", + "Harder, denser, fracture-prone bones": "HP:0011002", + "Albers-Schoenberg disease": "HP:0011002", + "Albers-Schonberg disease": "HP:0011002", + "Albers-Sch\u00f6nberg disease": "HP:0011002", + "Marble bone disease": "HP:0011002", + "High myopia": "HP:0011003", + "Severe myopia": "HP:0011003", + "Severe myopia (> -6.00 diopters)": "HP:0011003", + "Severe near sightedness": "HP:0011003", + "Severely close sighted": "HP:0011003", + "Severely near sighted": "HP:0011003", + "Abnormal systemic arterial morphology": "HP:0011004", + "Abnormal systemic artery morphology": "HP:0011004", + "Abnormality of the systemic arterial tree": "HP:0011004", + "Systemic artery abnormality": "HP:0011004", + "Arterial abnormalities": "HP:0011004", + "Mixed cirrhosis": "HP:0011005", + "Abnormal morphology of the musculature of the neck": "HP:0011006", + "Abnormality of cervical musculature": "HP:0011006", + "Abnormality of the musculature of the neck": "HP:0011006", + "Neck muscle issue": "HP:0011006", + "Temporal pattern": "HP:0011008", + "Speed of onset": "HP:0011008", + "Acute": "HP:0011009", + "Acute onset": "HP:0011009", + "Chronic": "HP:0011010", + "Subacute": "HP:0011011", + "Abnormal circulating polysaccharide concentration": "HP:0011012", + "Abnormal circulating carbohydrate concentration": "HP:0011013", + "Abnormal glucose homeostasis": "HP:0011014", + "Abnormal blood glucose concentration": "HP:0011015", + "Abnormality of blood glucose concentration": "HP:0011015", + "obsolete Abnormality of urine glucose concentration": "HP:0011016", + "Abnormal cellular physiology": "HP:0011017", + "Abnormality of cell physiology": "HP:0011017", + "Abnormality of the cell cycle": "HP:0011018", + "Abnormality of chromosome condensation": "HP:0011019", + "Abnormality of mucopolysaccharide metabolism": "HP:0011020", + "Abnormal circulating enzyme concentration": "HP:0011021", + "Abnormality of circulating enzyme level": "HP:0011021", + "Abnormal circulating unsaturated fatty acid concentration": "HP:0011022", + "Abnormal circulating prostaglandin circulation": "HP:0011023", + "Abnormality of the gastrointestinal tract": "HP:0011024", + "Abnormality of the GI tract": "HP:0011024", + "Digestive system disease": "HP:0011024", + "Gastrointestinal disease": "HP:0011024", + "Abnormal cardiovascular system physiology": "HP:0011025", + "Abnormality of cardiovascular system physiology": "HP:0011025", + "Aplasia/Hypoplasia of the vagina": "HP:0011026", + "Absent/small vagina": "HP:0011026", + "Absent/underdeveloped vagina": "HP:0011026", + "Abnormal fallopian tube morphology": "HP:0011027", + "Abnormality of the fallopian tube": "HP:0011027", + "Abnormality of blood circulation": "HP:0011028", + "Blood circulation disorder": "HP:0011028", + "Internal hemorrhage": "HP:0011029", + "Internal bleeding": "HP:0011029", + "Internal haemorrhage": "HP:0011029", + "Abnormal blood transition element cation concentration": "HP:0011030", + "Abnormality of transition element cation homeostasis": "HP:0011030", + "Abnormality of iron homeostasis": "HP:0011031", + "Abnormality of fluid regulation": "HP:0011032", + "Fluid imbalance": "HP:0011032", + "Impairment of fructose metabolism": "HP:0011033", + "Amyloidosis": "HP:0011034", + "Amyloid disease": "HP:0011034", + "Abnormal renal cortex morphology": "HP:0011035", + "Abnormality of renal cortex morphology": "HP:0011035", + "Abnormality of renal excretion": "HP:0011036", + "Decreased urine output": "HP:0011037", + "Abnormal renal tubular resorption": "HP:0011038", + "Abnormal renal resorption": "HP:0011038", + "Abnormality of renal resorption": "HP:0011038", + "Abnormal helix morphology": "HP:0011039", + "Abnormal helices": "HP:0011039", + "Abnormality of the helix": "HP:0011039", + "Helix abnormal": "HP:0011039", + "Abnormal intrahepatic bile duct morphology": "HP:0011040", + "Abnormality of the intrahepatic bile duct": "HP:0011040", + "Aplasia/Hypoplasia of the cervical spine": "HP:0011041", + "Absent/small cervical spine": "HP:0011041", + "Absent/underdeveloped cervical spine": "HP:0011041", + "Abnormal circulating potassium concentration": "HP:0011042", + "Abnormal blood K concentration": "HP:0011042", + "Abnormal blood potassium concentration": "HP:0011042", + "Abnormality of potassium homeostasis": "HP:0011042", + "Abnormal circulating adrenocorticotropin concentration": "HP:0011043", + "Abnormality of circulating corticotropin level": "HP:0011043", + "Abnormality of circulating ACTH level": "HP:0011043", + "Abnormality of circulating adrenocorticotropic hormone level": "HP:0011043", + "Abnormality of circulating adrenocorticotropin level": "HP:0011043", + "Abnormal number of permanent teeth": "HP:0011044", + "Abnormal complement of permanent teeth": "HP:0011044", + "Abnormal number of adult teeth": "HP:0011044", + "Abnormal number of secondary dentition": "HP:0011044", + "Abnormal permanent tooth count": "HP:0011044", + "Agenesis of permanent maxillary central incisor": "HP:0011045", + "Agenesis of adult maxillary central incisor": "HP:0011045", + "Failure of development of permanent maxillary central incisor": "HP:0011045", + "Absence of permanent maxillary central incisor": "HP:0011045", + "Absence of permanent upper central incisor": "HP:0011045", + "Absence of permanent upper front tooth": "HP:0011045", + "Missing adult upper central incisor": "HP:0011045", + "Missing permanent maxillary central incisor": "HP:0011045", + "Missing permanent upper central incisor": "HP:0011045", + "Missing permanent upper front tooth": "HP:0011045", + "Agenesis of primary maxillary central incisor": "HP:0011046", + "Agenesis of deciduous maxillary central incisor": "HP:0011046", + "Failure of development of deciduous maxillary central incisor": "HP:0011046", + "Failure of development of primary maxillary central incisor": "HP:0011046", + "Absence of deciduous maxillary central incisor": "HP:0011046", + "Absence of primary maxillary central incisor": "HP:0011046", + "Absence of upper front baby tooth": "HP:0011046", + "Missing deciduous maxillary central incisor": "HP:0011046", + "Missing primary maxillary central incisor": "HP:0011046", + "Missing upper front baby tooth": "HP:0011046", + "Missing upper front milk tooth": "HP:0011046", + "Agenesis of primary mandibular central incisor": "HP:0011047", + "Agenesis of deciduous lower central incisor": "HP:0011047", + "Agenesis of primary lower central incisor": "HP:0011047", + "Failure of development of deciduous mandibular central incisor": "HP:0011047", + "Failure of development of primary mandibular central incisor": "HP:0011047", + "Absence of deciduous mandibular central incisor": "HP:0011047", + "Absence of primary mandibular central incisor": "HP:0011047", + "Missing deciduous mandibular central incisor": "HP:0011047", + "Missing lower central incisor milk tooth": "HP:0011047", + "Missing lower front baby tooth": "HP:0011047", + "Missing lower front milk tooth": "HP:0011047", + "Missing lower front primary tooth": "HP:0011047", + "Missing primary mandibular central incisor": "HP:0011047", + "Agenesis of permanent mandibular central incisor": "HP:0011048", + "Agenesis of adult mandibular central incisor": "HP:0011048", + "Failure of development of permanent mandibular central incisor": "HP:0011048", + "Absence of permanent lower central incisor": "HP:0011048", + "Absence of permanent lower front tooth": "HP:0011048", + "Absence of permanent mandibular central incisor": "HP:0011048", + "Missing adult lower central incisor": "HP:0011048", + "Missing permanent lower central incisor": "HP:0011048", + "Missing permanent lower front tooth": "HP:0011048", + "Missing permanent mandibular central incisor": "HP:0011048", + "Agenesis of primary maxillary lateral incisor": "HP:0011049", + "Agenesis of deciduous maxillary lateral incisor": "HP:0011049", + "Failure of development of deciduous maxillary lateral incisor": "HP:0011049", + "Failure of development of primary maxillary lateral incisor": "HP:0011049", + "Absence of deciduous maxillary lateral incisor": "HP:0011049", + "Absence of primary maxillary lateral incisor": "HP:0011049", + "Missing deciduous maxillary lateral incisor": "HP:0011049", + "Missing primary maxillary lateral incisor": "HP:0011049", + "Agenesis of permanent maxillary lateral incisor": "HP:0011050", + "Agenesis of permanent upper lateral incisor": "HP:0011050", + "Failure of development of permanent maxillary lateral incisor": "HP:0011050", + "Failure of development of permanent upper lateral incisor": "HP:0011050", + "Absence of permanent maxillary lateral incisor": "HP:0011050", + "Missing permanent maxillary lateral incisor": "HP:0011050", + "Missing permanent upper lateral incisor": "HP:0011050", + "Agenesis of premolar": "HP:0011051", + "Agenesis of bicuspid": "HP:0011051", + "Failure of development of bicuspid": "HP:0011051", + "Failure of development of premolar": "HP:0011051", + "Absence of bicuspid": "HP:0011051", + "Absence of premolar": "HP:0011051", + "Missing bicuspid": "HP:0011051", + "Missing premolar": "HP:0011051", + "Agenesis of maxillary premolar": "HP:0011052", + "Agenesis of maxillary bicuspid": "HP:0011052", + "Failure of development of maxillary bicuspid": "HP:0011052", + "Failure of development of maxillary premolar": "HP:0011052", + "Absence of maxillary bicuspid": "HP:0011052", + "Absence of maxillary premolar": "HP:0011052", + "Absence of upper premolar": "HP:0011052", + "Missing maxillary premolar": "HP:0011052", + "Missing upper bicuspid": "HP:0011052", + "Missing upper premolar": "HP:0011052", + "Agenesis of mandibular premolar": "HP:0011053", + "Failure of development of mandibular premolar": "HP:0011053", + "Absence of lower premolar": "HP:0011053", + "Absence of mandibular premolar": "HP:0011053", + "Missing lower premolar": "HP:0011053", + "Missing mandibular premolar": "HP:0011053", + "Agenesis of molar": "HP:0011054", + "Absent molars": "HP:0011054", + "Failure of development of molar": "HP:0011054", + "Absence of molar": "HP:0011054", + "Missing molar": "HP:0011054", + "Agenesis of permanent molar": "HP:0011055", + "Agenesis of secondary molar": "HP:0011055", + "Failure of development of permanent molar": "HP:0011055", + "Failure of development of secondary molar": "HP:0011055", + "Absence of adult molar": "HP:0011055", + "Absence of permanent molar": "HP:0011055", + "Missing adult molar": "HP:0011055", + "Missing permanent molar": "HP:0011055", + "Agenesis of first permanent molar tooth": "HP:0011056", + "Agenesis of six year molar": "HP:0011056", + "Failure of development of first permanent molar": "HP:0011056", + "Failure of development of six year molar": "HP:0011056", + "Absence of first permanent molar": "HP:0011056", + "Absence of six year molar": "HP:0011056", + "Missing first permanent molar": "HP:0011056", + "Missing six year molar": "HP:0011056", + "Agenesis of second permanent molar": "HP:0011057", + "Agenesis of twelve year molar": "HP:0011057", + "Failure of development of second permanent molar": "HP:0011057", + "Failure of development of twelve year molar": "HP:0011057", + "Absence of second permanent molar": "HP:0011057", + "Absence of twelve year molar": "HP:0011057", + "Missing second permanent molar": "HP:0011057", + "Missing twelve year molar": "HP:0011057", + "Generalized periodontitis": "HP:0011058", + "Generalised gum disease": "HP:0011058", + "Generalized gum disease": "HP:0011058", + "Widespread gum disease": "HP:0011058", + "Generalised periodontal disease": "HP:0011058", + "Generalised periodontitis": "HP:0011058", + "Generalized periodontal disease": "HP:0011058", + "Localized periodontitis": "HP:0011059", + "Limited area of gum disease": "HP:0011059", + "Localised gum disease": "HP:0011059", + "Localized gum disease": "HP:0011059", + "Localised periodontal disease": "HP:0011059", + "Localised periodontitis": "HP:0011059", + "Localized periodontal disease": "HP:0011059", + "Dentinogenesis imperfecta limited to primary teeth": "HP:0011060", + "Dentinogenesis imperfecta of baby teeth": "HP:0011060", + "Abnormality of dental structure": "HP:0011061", + "Abnormality of tooth part": "HP:0011061", + "Abnormality of tooth structure": "HP:0011061", + "Misalignment of incisors": "HP:0011062", + "Abnormality of position of incisors": "HP:0011062", + "Malposition of incisors": "HP:0011062", + "Abnormality of alignment of incisors": "HP:0011062", + "Crooked front teeth": "HP:0011062", + "Crooked incisors": "HP:0011062", + "Abnormal incisor morphology": "HP:0011063", + "Abnormality of incisor morphology": "HP:0011063", + "Abnormality of shape of incisor": "HP:0011063", + "Abnormal number of incisors": "HP:0011064", + "Abnormal number of front teeth": "HP:0011064", + "Conical incisor": "HP:0011065", + "Cone shaped front tooth": "HP:0011065", + "Conoid incisor": "HP:0011065", + "Peg shaped incisors": "HP:0011065", + "Peg-shaped incisors": "HP:0011065", + "Peg-shaped tooth": "HP:0011065", + "Shark tooth incisor": "HP:0011065", + "Peg shaped front tooth": "HP:0011065", + "Pointed front tooth": "HP:0011065", + "Pointed incisor": "HP:0011065", + "Mesiodens": "HP:0011067", + "Extra tooth": "HP:0011067", + "Extra tooth in the midline": "HP:0011067", + "Median supernumary tooth": "HP:0011067", + "Midline supernumary tooth": "HP:0011067", + "Mesiodentes": "HP:0011067", + "Odontoma": "HP:0011068", + "Odontomas": "HP:0011068", + "Supernumerary tooth": "HP:0011069", + "Extra teeth": "HP:0011069", + "Hyperdontia": "HP:0011069", + "Increased number of teeth": "HP:0011069", + "Increased tooth count": "HP:0011069", + "Supernumerary teeth": "HP:0011069", + "Supplemental dentition": "HP:0011069", + "Supplemental teeth": "HP:0011069", + "Tooth, supernumerary": "HP:0011069", + "Supernumary dentition": "HP:0011069", + "Supernumary teeth": "HP:0011069", + "More teeth than normal": "HP:0011069", + "Abnormal molar morphology": "HP:0011070", + "Abnormal shape of molar tooth": "HP:0011070", + "Abnormality of molar morphology": "HP:0011070", + "Abnormal permanent molar morphology": "HP:0011071", + "Abnormality of permanent molar morphology": "HP:0011071", + "Abnormality of shape of adult molar": "HP:0011071", + "Abnormality of shape of permanent molar": "HP:0011071", + "Rootless teeth": "HP:0011072", + "Absence of tooth root": "HP:0011072", + "Agenesis of tooth root": "HP:0011072", + "Aplasia of tooth root": "HP:0011072", + "Missing tooth root": "HP:0011072", + "Teeth without roots": "HP:0011072", + "Tooth with dentin dysplasia type i": "HP:0011072", + "Abnormality of dental color": "HP:0011073", + "Abnormality of dental colour": "HP:0011073", + "Abnormality of dental shade": "HP:0011073", + "Abnormality of tooth color": "HP:0011073", + "Abnormality of tooth colour": "HP:0011073", + "Abnormality of tooth shade": "HP:0011073", + "Localized hypoplasia of dental enamel": "HP:0011074", + "Localised hypoplasia of dental enamel": "HP:0011074", + "Localised hypoplasia of tooth enamel": "HP:0011074", + "Localized hypoplasia of tooth enamel": "HP:0011074", + "Localised dysplasia of tooth enamel": "HP:0011074", + "Localized dysplasia of tooth enamel": "HP:0011074", + "Green teeth": "HP:0011075", + "Green colored teeth": "HP:0011075", + "Green coloured teeth": "HP:0011075", + "Green tooth shade": "HP:0011075", + "Abnormality of premolar": "HP:0011076", + "Abnormality of bicuspid": "HP:0011076", + "Abnormality of molar": "HP:0011077", + "Abnormality of canine": "HP:0011078", + "Abnormality of eye tooth": "HP:0011078", + "Impacted tooth": "HP:0011079", + "Buried tooth": "HP:0011079", + "Retained tooth": "HP:0011079", + "Abnormal premolar morphology": "HP:0011080", + "Abnormality of bicuspid morphology": "HP:0011080", + "Abnormality of premolar morphology": "HP:0011080", + "Abnormality of shape of bicuspid": "HP:0011080", + "Abnormality of shape of premolar": "HP:0011080", + "Incisor macrodontia": "HP:0011081", + "Hyperplasia of incisor": "HP:0011081", + "Hypertrophy of incisor": "HP:0011081", + "Increased size of incisor": "HP:0011081", + "Large incisor": "HP:0011081", + "Increased width of incisor": "HP:0011081", + "Conical primary incisor": "HP:0011082", + "Cone shaped front baby tooth": "HP:0011082", + "Conical deciduous incisor": "HP:0011082", + "Conoid primary incisor": "HP:0011082", + "Primary front shark tooth": "HP:0011082", + "Peg shaped front baby tooth": "HP:0011082", + "Peg shaped primary incisor": "HP:0011082", + "Pointed front baby tooth": "HP:0011082", + "Pointed primary incisor": "HP:0011082", + "Conical maxillary incisor": "HP:0011083", + "Cone shaped maxillary incisor": "HP:0011083", + "Cone shaped upper front tooth": "HP:0011083", + "Conoid maxillary incisor": "HP:0011083", + "Upper front shark tooth": "HP:0011083", + "Peg shaped upper front tooth": "HP:0011083", + "Pointed maxillary incisor": "HP:0011083", + "Pointed upper front tooth": "HP:0011083", + "Hypocalcification of dental enamel": "HP:0011084", + "Decreased enamel calcification": "HP:0011084", + "Poorly calcified tooth enamel": "HP:0011084", + "Hypomature dental enamel": "HP:0011085", + "Immature tooth enamel": "HP:0011085", + "Soft teeth": "HP:0011085", + "Soft tooth enamel": "HP:0011085", + "Dentinogenesis imperfecta of primary and permanent teeth": "HP:0011086", + "Dentinogenesis imperfecta of adult and baby teeth": "HP:0011086", + "Dentinogenesis imperfecta of both sets of teeth": "HP:0011086", + "Talon cusp": "HP:0011087", + "Extra cusp on inside of front tooth": "HP:0011087", + "Dens evaginatus": "HP:0011087", + "Talon cusps": "HP:0011087", + "Dens in dente": "HP:0011088", + "Dens invaginatus": "HP:0011088", + "Tooth within a tooth": "HP:0011088", + "Double tooth": "HP:0011089", + "Conjoined teeth": "HP:0011089", + "Teeth, double": "HP:0011089", + "Twinning tooth": "HP:0011089", + "Fused teeth": "HP:0011090", + "Fusion of teeth": "HP:0011090", + "Joined teeth": "HP:0011090", + "Gemination": "HP:0011091", + "Gemination of tooth": "HP:0011091", + "Splitting of crown of tooth": "HP:0011091", + "Mulberry molar": "HP:0011092", + "Syphilitic permanent first molar": "HP:0011092", + "Molarization of premolar": "HP:0011093", + "Molar shape of bicuspid": "HP:0011093", + "Molar shape of premolar": "HP:0011093", + "Molarization of bicuspid": "HP:0011093", + "Enlarged premolar": "HP:0011093", + "Increased size of premolar": "HP:0011093", + "Increased overbite": "HP:0011094", + "Increased overlap of upper and lower incisors": "HP:0011094", + "Overbite": "HP:0011094", + "Supraocclusion": "HP:0011094", + "Deep bite": "HP:0011094", + "Deep overbite": "HP:0011094", + "Scissors bite": "HP:0011094", + "Overjet": "HP:0011095", + "Abnormality of horizontal incisor relationship": "HP:0011095", + "Protrusion of upper teeth in front of lower teeth": "HP:0011095", + "Buck teeth": "HP:0011095", + "Protrusion of the maxillary incisors": "HP:0011095", + "Upper teeth sticking out forward": "HP:0011095", + "Peripheral demyelination": "HP:0011096", + "Demyelination": "HP:0011096", + "Epileptic spasm": "HP:0011097", + "Epileptic spasms": "HP:0011097", + "Salaam convulsion": "HP:0011097", + "Salaam convulsions": "HP:0011097", + "Salaam seizure": "HP:0011097", + "Salaam seizures": "HP:0011097", + "West syndrome": "HP:0011097", + "Speech apraxia": "HP:0011098", + "Apraxia of speech": "HP:0011098", + "Verbal dyspraxia": "HP:0011098", + "Speech dyspraxia": "HP:0011098", + "Spastic hemiparesis": "HP:0011099", + "Spastic hemiplegia": "HP:0011099", + "Intestinal atresia": "HP:0011100", + "Ileal atresia": "HP:0011102", + "Abnormal left ventricular outflow tract morphology": "HP:0011103", + "Abnormality of the left ventricular outflow tract": "HP:0011103", + "Abnormality of blood volume homeostasis": "HP:0011104", + "Hypervolemia": "HP:0011105", + "Fluid overload in blood": "HP:0011105", + "Hypovolemia": "HP:0011106", + "Depleted blood volume": "HP:0011106", + "Recurrent aphthous stomatitis": "HP:0011107", + "Recurrent canker sores": "HP:0011107", + "Recurrent oral aphthae": "HP:0011107", + "Aphthous stomatitis": "HP:0011107", + "Buccal aphthous ulcers": "HP:0011107", + "Recurrent aphthous ulcers": "HP:0011107", + "Recurrent sinusitis": "HP:0011108", + "Recurrent sinus infections": "HP:0011108", + "Sinusitis, recurrent": "HP:0011108", + "Recurrent sinus disease": "HP:0011108", + "Chronic sinusitis": "HP:0011109", + "Chronic sinus disease": "HP:0011109", + "Sinusitis, chronic": "HP:0011109", + "Recurrent tonsillitis": "HP:0011110", + "Recurrent inflammation of tonsils": "HP:0011110", + "Abnormal immune serum protein physiology": "HP:0011111", + "Abnormality of immune serum protein physiology": "HP:0011111", + "Abnormal circulating cytokine concentration": "HP:0011112", + "Abnormality of serum cytokine level": "HP:0011112", + "Abnormality of cytokine secretion": "HP:0011113", + "Defective production of NFKB1-dependent cytokines": "HP:0011114", + "Abnormal circulating chemokine concentration": "HP:0011115", + "Abnormality of chemokine secretion": "HP:0011115", + "Abnormal circulating interferon concentration": "HP:0011116", + "Abnormal serum interferon level": "HP:0011116", + "Abnormality of interferon secretion": "HP:0011116", + "Abnormal circulating interleukin concentration": "HP:0011117", + "Abnormal serum IL level": "HP:0011117", + "Abnormal serum interleukin level": "HP:0011117", + "Abnormality of IL secretion": "HP:0011117", + "Abnormality of interleukin secretion": "HP:0011117", + "Abnormality of tumor necrosis factor secretion": "HP:0011118", + "Abnormality of cachectin secretion": "HP:0011118", + "Abnormality of cachexin secretion": "HP:0011118", + "Abnormality of tumour necrosis factor secretion": "HP:0011118", + "Abnormal nasal dorsum morphology": "HP:0011119", + "Abnormality of the dorsum of nose": "HP:0011119", + "Abnormality of the nasal dorsum": "HP:0011119", + "Abnormality of the nasal ridge": "HP:0011119", + "Anomaly of the nasal ridge": "HP:0011119", + "Abnormal morphology of dorsum of nose": "HP:0011119", + "Crooked dorsum of nose": "HP:0011119", + "Crooked nasal dorsum": "HP:0011119", + "Crooked nasal ridge": "HP:0011119", + "Deformity of the dorsum of the nose": "HP:0011119", + "Deformity of the nasal dorsum": "HP:0011119", + "Deformity of the nasal ridge": "HP:0011119", + "Malformation of the dorsum of nose": "HP:0011119", + "Malformation of the nasal dorsum": "HP:0011119", + "Malformation of the nasal ridge": "HP:0011119", + "Concave nasal ridge": "HP:0011120", + "Boxer's nasal deformity": "HP:0011120", + "Boxer's nose deformity": "HP:0011120", + "Concave dorsum of nose": "HP:0011120", + "Concave nasal dorsum": "HP:0011120", + "Saddle nose": "HP:0011120", + "Saddle shaped nasal dorsum": "HP:0011120", + "Ski jump nose": "HP:0011120", + "Saddle nose deformity": "HP:0011120", + "Abnormal skin morphology": "HP:0011121", + "Abnormal skin structure": "HP:0011121", + "Abnormality of skin morphology": "HP:0011121", + "Abnormality of skin physiology": "HP:0011122", + "Inflammatory abnormality of the skin": "HP:0011123", + "Abnormal tendency to infections of the skin": "HP:0011123", + "Skin inflammation": "HP:0011123", + "Dermatitis": "HP:0011123", + "Inflammatory skin disease": "HP:0011123", + "Abnormal epidermal morphology": "HP:0011124", + "Abnormality of epidermal morphology": "HP:0011124", + "Abnormality of dermal melanosomes": "HP:0011125", + "Nephroptosis": "HP:0011126", + "Floating kidney": "HP:0011126", + "Renal ptosis": "HP:0011126", + "Perioral eczema": "HP:0011127", + "Eczema around the mouth": "HP:0011127", + "Acute esophageal necrosis": "HP:0011128", + "Bilateral fetal pyelectasis": "HP:0011129", + "Bilateral fetal pyelectasia": "HP:0011129", + "Bilateral foetal pyelectasia": "HP:0011129", + "Bilateral foetal pyelectasis": "HP:0011129", + "Abnormal renal calyx morphology": "HP:0011130", + "Abnormality of renal calyx morphology": "HP:0011130", + "Perianal dermatitis": "HP:0011131", + "Perianal rash": "HP:0011131", + "Chronic furunculosis": "HP:0011132", + "Increased sensitivity to ionizing radiation": "HP:0011133", + "Low-grade fever": "HP:0011134", + "Mild fever": "HP:0011134", + "Aplasia/Hypoplasia of the sweat glands": "HP:0011135", + "Absent/small sweat glands": "HP:0011135", + "Absent/underdeveloped sweat glands": "HP:0011135", + "Aplasia of the sweat glands": "HP:0011136", + "Absent sweat glands": "HP:0011136", + "Lack of sweat glands": "HP:0011136", + "Non-pruritic urticaria": "HP:0011137", + "Non-itchy hives": "HP:0011137", + "Abnormal skin adnexa morphology": "HP:0011138", + "Abnormal skin appendage": "HP:0011138", + "Abnormality of skin adnexa morphology": "HP:0011138", + "Gastric duplication": "HP:0011139", + "Gastric duplication cyst": "HP:0011139", + "Gastrointestinal duplication": "HP:0011140", + "GI duplication": "HP:0011140", + "Age-related cataract": "HP:0011141", + "Clouding of the lens of the eye with age": "HP:0011141", + "Age-related nuclear cataract": "HP:0011142", + "Age-related cortical cataract": "HP:0011143", + "Age-related posterior subcapsular cataract": "HP:0011144", + "Symptomatic seizures": "HP:0011145", + "Dialeptic seizure": "HP:0011146", + "Behavioral arrest seizure with impairment of awareness irrespective of onset": "HP:0011146", + "Behavioural arrest seizure with impairment of awareness irrespective of onset": "HP:0011146", + "Unknown onset behavioral arrest seizure with impairment of awareness": "HP:0011146", + "Unknown onset behavioural arrest seizure with impairment of awareness": "HP:0011146", + "Typical absence seizure": "HP:0011147", + "Typical absence": "HP:0011147", + "Typical absence seizures": "HP:0011147", + "obsolete Absence seizures with special features": "HP:0011148", + "Absence seizure with eyelid myoclonia": "HP:0011149", + "Absence seizures with eyelid myoclonia": "HP:0011149", + "Myoclonic absence seizure": "HP:0011150", + "Myoclonic absence": "HP:0011150", + "Myoclonic absences": "HP:0011150", + "Atypical absence status epilepticus": "HP:0011151", + "Obtundation status": "HP:0011151", + "Early onset absence seizures": "HP:0011152", + "Early onset petit mal seizures": "HP:0011152", + "Focal motor seizure": "HP:0011153", + "Focal motor seizures": "HP:0011153", + "Localised motor seizure": "HP:0011153", + "Localised motor seizures": "HP:0011153", + "Localized motor seizure": "HP:0011153", + "Localized motor seizures": "HP:0011153", + "Partial motor seizure": "HP:0011153", + "Partial motor seizures": "HP:0011153", + "Segmental motor seizure": "HP:0011153", + "Focal autonomic seizure": "HP:0011154", + "Focal autonomic seizures": "HP:0011154", + "obsolete Focal autonomic seizures with altered responsiveness": "HP:0011155", + "obsolete Focal autonomic seizures without altered responsiveness": "HP:0011156", + "Focal sensory seizure": "HP:0011157", + "Focal sensory seizures": "HP:0011157", + "Partial sensory seizure": "HP:0011157", + "Sensory aura": "HP:0011157", + "Focal sensory seizure with auditory features": "HP:0011158", + "Auditory aura": "HP:0011158", + "Focal auditory seizure": "HP:0011158", + "Focal sensory auditory seizure": "HP:0011158", + "Partial auditory seizure": "HP:0011158", + "Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena": "HP:0011159", + "Abdominal aura": "HP:0011159", + "Epigastric aura": "HP:0011159", + "Epigastric auras": "HP:0011159", + "Localised seizure with epigastric sensation": "HP:0011159", + "Localized seizure with epigastric sensation": "HP:0011159", + "Partial seizure with epigastric sensation": "HP:0011159", + "Visceral aura": "HP:0011159", + "Focal sensory seizure with gustatory features": "HP:0011160", + "Focal gustatory seizure": "HP:0011160", + "Focal sensory gustatory seizure": "HP:0011160", + "Gustatory aura": "HP:0011160", + "Gustatory auras": "HP:0011160", + "Partial gustatory seizure": "HP:0011160", + "Taste hallucinations": "HP:0011160", + "Focal sensory seizure with olfactory features": "HP:0011161", + "Focal olfactory seizure": "HP:0011161", + "Olfactory aura": "HP:0011161", + "Olfactory auras": "HP:0011161", + "Partial olfactory seizure": "HP:0011161", + "obsolete Psychic auras": "HP:0011162", + "Focal sensory seizure with somatosensory features": "HP:0011163", + "Focal somatosensory seizure": "HP:0011163", + "Partial somatosensory seizure": "HP:0011163", + "Somatosensory aura": "HP:0011163", + "Somatosensory auras": "HP:0011163", + "obsolete Vegetative auras": "HP:0011164", + "Focal sensory seizure with visual features": "HP:0011165", + "Focal visual seizure": "HP:0011165", + "Partial visual seizure": "HP:0011165", + "Visual aura": "HP:0011165", + "Visual auras": "HP:0011165", + "Simple partial occipital seizures": "HP:0011165", + "Focal myoclonic seizure": "HP:0011166", + "Focal myoclonic seizures": "HP:0011166", + "Local myoclonic seizures": "HP:0011166", + "Localised myoclonic seizure": "HP:0011166", + "Localized myoclonic seizure": "HP:0011166", + "Partial myoclonic seizure": "HP:0011166", + "Partial myoclonic seizures": "HP:0011166", + "Segmental myoclonic seizure": "HP:0011166", + "Segmental myoclonic seizures": "HP:0011166", + "Focal tonic seizure": "HP:0011167", + "Focal tonic seizures": "HP:0011167", + "Local tonic seizures": "HP:0011167", + "Localised tonic seizure": "HP:0011167", + "Localized tonic seizure": "HP:0011167", + "Partial tonic seizure": "HP:0011167", + "Partial tonic seizures": "HP:0011167", + "Segmental tonic seizure": "HP:0011167", + "Focal seizure with eyelid myoclonia": "HP:0011168", + "Eyelid myoclonias": "HP:0011168", + "Generalized clonic seizure": "HP:0011169", + "Generalised clonic seizure": "HP:0011169", + "Generalised clonic seizures": "HP:0011169", + "Generalised onset clonic seizure": "HP:0011169", + "Generalised-onset clonic seizure": "HP:0011169", + "Generalized clonic seizures": "HP:0011169", + "Generalized onset clonic seizure": "HP:0011169", + "Generalized-onset clonic seizure": "HP:0011169", + "Generalized myoclonic-atonic seizure": "HP:0011170", + "Generalised myoclonic-atonic seizure": "HP:0011170", + "Myoclonic atonic seizures": "HP:0011170", + "Myoclonic-astatic seizure": "HP:0011170", + "Simple febrile seizure": "HP:0011171", + "Simple febrile convulsion": "HP:0011171", + "Simple febrile seizures": "HP:0011171", + "Simple fever fit": "HP:0011171", + "Complex febrile seizure": "HP:0011172", + "Complex febrile convulsion": "HP:0011172", + "Complex febrile seizures": "HP:0011172", + "Complex fever fit": "HP:0011172", + "Focal behavior arrest seizure": "HP:0011173", + "Focal behaviour arrest seizure": "HP:0011173", + "Focal hypokinetic seizure": "HP:0011173", + "Hypokinetic seizure": "HP:0011173", + "Hypokinetic seizures": "HP:0011173", + "Localised seizure with behavioral arrest": "HP:0011173", + "Localised seizure with behavioural arrest": "HP:0011173", + "Localized seizure with behavioral arrest": "HP:0011173", + "Partial hypokinetic seizure": "HP:0011173", + "Partial seizure with behavior arrest": "HP:0011173", + "Partial seizure with behaviour arrest": "HP:0011173", + "Focal hyperkinetic seizure": "HP:0011174", + "Hyperkinetic seizures": "HP:0011174", + "Localised hyperkinetic seizure": "HP:0011174", + "Localized hyperkinetic seizure": "HP:0011174", + "Partial hyperkinetic seizure": "HP:0011174", + "Segmental hyperkinetic seizure": "HP:0011174", + "Focal motor seizure with version": "HP:0011175", + "Versive seizure": "HP:0011175", + "Versive seizures": "HP:0011175", + "EEG with constitutional variants": "HP:0011176", + "EEG with 4-5/second background activity": "HP:0011177", + "Alpha-EEG": "HP:0011178", + "Beta-EEG": "HP:0011179", + "Beta wave electroencephalography": "HP:0011179", + "Partial beta-EEG": "HP:0011180", + "Low voltage EEG": "HP:0011181", + "Interictal epileptiform activity": "HP:0011182", + "Epileptiform EEG discharges": "HP:0011182", + "EEG with hyperventilation-induced focal epileptiform discharges": "HP:0011183", + "EEG with hyperventilation-induced generalized epileptiform discharges": "HP:0011184", + "EEG with hyperventilation-induced generalised epileptiform discharges": "HP:0011184", + "EEG with focal epileptiform discharges": "HP:0011185", + "Focal EEG Abnormality": "HP:0011185", + "Focal epileptiform discharges with limited propagation to contralateral hemisphere": "HP:0011186", + "Focal EEG discharges with propagation to ipsilateral hemisphere": "HP:0011187", + "Focal EEG discharges with secondary generalization": "HP:0011188", + "Focal EEG discharges with secondary generalisation": "HP:0011188", + "Bilateral multifocal epileptiform discharges": "HP:0011189", + "Uni- and bilateral multifocal epileptiform discharges": "HP:0011190", + "Unilateral multifocal epileptiform discharges": "HP:0011191", + "Polymorphic focal epileptiform discharges": "HP:0011192", + "EEG with focal spikes": "HP:0011193", + "EEG with series of focal spikes": "HP:0011194", + "EEG with focal sharp slow waves": "HP:0011195", + "EEG with focal sharp waves": "HP:0011196", + "EEG with focal spike waves": "HP:0011197", + "EEG with generalized epileptiform discharges": "HP:0011198", + "EEG with generalised epileptiform discharges": "HP:0011198", + "EEG with generalized sharp slow waves": "HP:0011199", + "EEG with generalised sharp slow waves": "HP:0011199", + "EEG with generalized polymorphic epileptiform discharges": "HP:0011200", + "EEG with generalised polymorphic epileptiform discharges": "HP:0011200", + "EEG with changes in voltage": "HP:0011201", + "EEG with diffuse acceleration": "HP:0011202", + "EEG with abnormally slow frequencies": "HP:0011203", + "EEG with continuous slow activity": "HP:0011204", + "EEG with intermittent slow activity": "HP:0011205", + "EEG with generalized slow activity grade 1": "HP:0011206", + "EEG with generalised slow activity grade 1": "HP:0011206", + "EEG with generalized slow activity grade 2": "HP:0011207", + "EEG with generalised slow activity grade 2": "HP:0011207", + "EEG with generalized slow activity grade 3": "HP:0011208", + "EEG with generalised slow activity grade 3": "HP:0011208", + "EEG with generalized slow activity grade 4": "HP:0011209", + "EEG with generalised slow activity grade 4": "HP:0011209", + "Flat line EEG": "HP:0011209", + "EEG with occipital slowing": "HP:0011210", + "EEG with photoparoxysmal response grade I": "HP:0011211", + "EEG with photoparoxysmal response grade II": "HP:0011212", + "EEG with photoparoxysmal response grade III": "HP:0011213", + "EEG with photoparoxysmal response grade IV": "HP:0011214", + "Hemihypsarrhythmia": "HP:0011215", + "Abnormal shape of the occiput": "HP:0011217", + "Abnormal shape of posterior head": "HP:0011217", + "Abnormal shape of the back of the head": "HP:0011217", + "Abnormal shape of posterior cranium": "HP:0011217", + "Abnormal shape of posterior skull": "HP:0011217", + "Abnormal shape of the back of the skull": "HP:0011217", + "Abnormal shape of the frontal region": "HP:0011218", + "Abnormal morphology of the frontal region": "HP:0011218", + "Abnormal shape of the forehead": "HP:0011218", + "Dysmorphic forehead": "HP:0011218", + "Dysmorphic frontal region": "HP:0011218", + "Short face": "HP:0011219", + "Decreased height of face": "HP:0011219", + "Decreased length of face": "HP:0011219", + "Decreased vertical dimension of face": "HP:0011219", + "Short facies": "HP:0011219", + "Vertical Facial Deficiency": "HP:0011219", + "Vertical deficiency of face": "HP:0011219", + "Vertical facial insufficiency": "HP:0011219", + "Vertical hypoplasia of face": "HP:0011219", + "Vertical insufficiency of face": "HP:0011219", + "Vertical shortening of face": "HP:0011219", + "Prominent forehead": "HP:0011220", + "Prominence of frontal region": "HP:0011220", + "Pronounced forehead": "HP:0011220", + "Protruding forehead": "HP:0011220", + "Bulging forehead": "HP:0011220", + "Vertical forehead creases": "HP:0011221", + "Frontal creases of face": "HP:0011221", + "Vertical forehead rhytids": "HP:0011221", + "Vertical forehead wrinkles": "HP:0011221", + "Depressed glabella": "HP:0011222", + "Concave glabella": "HP:0011222", + "Deficiency of glabella": "HP:0011222", + "Deficient area between the eyebrows": "HP:0011222", + "Flat area between the eyebrows": "HP:0011222", + "Flat glabella": "HP:0011222", + "Hypoplasia of glabella": "HP:0011222", + "Metopic depression": "HP:0011223", + "Depression of frontal cranial suture": "HP:0011223", + "Depression of metopic cranial suture": "HP:0011223", + "Frontal suture depression": "HP:0011223", + "Ablepharon": "HP:0011224", + "Ablepharon of eyelid": "HP:0011224", + "Absent eyelids": "HP:0011224", + "Agenesis of eyelids": "HP:0011224", + "Missing eyelids": "HP:0011224", + "Aplasia of the eyelids": "HP:0011224", + "Epiblepharon": "HP:0011225", + "Aplasia/Hypoplasia of the eyelid": "HP:0011226", + "Failure of development of eyelid": "HP:0011226", + "Hypotrophic eyelid": "HP:0011226", + "Elevated circulating C-reactive protein concentration": "HP:0011227", + "Elevated C-reactive protein level": "HP:0011227", + "Elevated CRP": "HP:0011227", + "Horizontal eyebrow": "HP:0011228", + "Lack of eyebrow arch": "HP:0011228", + "Lack of eyebrow curvature": "HP:0011228", + "Flat eyebrow": "HP:0011228", + "Straight eyebrow": "HP:0011228", + "Straight eyebrows": "HP:0011228", + "Broad eyebrow": "HP:0011229", + "Broad eyebrows": "HP:0011229", + "Flared eyebrow": "HP:0011229", + "Increased vertical height of eyebrow": "HP:0011229", + "Increased vertical thickness of eyebrow": "HP:0011229", + "Flared eyebrows": "HP:0011229", + "Increased vertical width of eyebrow": "HP:0011229", + "Laterally extended eyebrow": "HP:0011230", + "Increased lateral length of eyebrow": "HP:0011230", + "Laterally elongated eyebrow": "HP:0011230", + "Laterally extended eyebrows": "HP:0011230", + "Prominent eyelashes": "HP:0011231", + "Thick eyelashes": "HP:0011231", + "Infra-orbital fold": "HP:0011232", + "Infraorbital fold": "HP:0011232", + "Dennie-Morgan fold": "HP:0011232", + "Antihelical shelf": "HP:0011233", + "Conchal shelf": "HP:0011233", + "Absent antihelix": "HP:0011234", + "Additional crus of antihelix": "HP:0011235", + "Angulated antihelix": "HP:0011236", + "Broad inferior crus of antihelix": "HP:0011237", + "Antihelix, inferior crus, broad": "HP:0011237", + "Prominent inferior crus of antihelix": "HP:0011238", + "Antihelix, inferior crus, prominent": "HP:0011238", + "Hyperplastic inferior crus of antihelix": "HP:0011238", + "Hypertrophic inferior crus of antihelix": "HP:0011238", + "Underdeveloped inferior crus of antihelix": "HP:0011239", + "Antihelix, inferior crus, underdeveloped": "HP:0011239", + "Hypoplastic inferior crus of antihelix": "HP:0011239", + "Hypotrophic inferior crus of antihelix": "HP:0011239", + "Prominent stem of antihelix": "HP:0011240", + "Hyperplastic antihelix stem": "HP:0011240", + "Hypertrophic antihelix stem": "HP:0011240", + "Serpiginous stem of antihelix": "HP:0011241", + "Antihelix, stem, serpiginous": "HP:0011241", + "Underdeveloped stem of antihelix": "HP:0011242", + "Antihelix, stem, underdeveloped": "HP:0011242", + "Abnormality of inferior crus of antihelix": "HP:0011243", + "Abnormality of anterior crus of antihelix": "HP:0011243", + "Abnormality of stem of antihelix": "HP:0011244", + "Abnormality of superior crus of antihelix": "HP:0011245", + "Abnormality of posterior crus of antihelix": "HP:0011245", + "Underdeveloped superior crus of antihelix": "HP:0011246", + "Hypoplastic superior crus of antihelix": "HP:0011246", + "Hypotrophic superior crus of antihelix": "HP:0011246", + "Prominent superior crus of antihelix": "HP:0011247", + "Hyperplastic superior crus of antihelix": "HP:0011247", + "Hypertrophic superior crus of antihelix": "HP:0011247", + "Everted antitragus": "HP:0011248", + "Absent antitragus": "HP:0011249", + "Bifid antitragus": "HP:0011250", + "Double antitragus": "HP:0011250", + "Underdeveloped antitragus": "HP:0011251", + "Hypoplastic antitragus": "HP:0011251", + "Hypotrophic antitragus": "HP:0011251", + "Small antitragus": "HP:0011251", + "Cryptotia": "HP:0011252", + "Buried ear": "HP:0011252", + "Hidden ear": "HP:0011252", + "Type I cryptotia": "HP:0011253", + "Type 1 cryptotia": "HP:0011253", + "Type II cryptotia": "HP:0011254", + "Type 2 cryptotia": "HP:0011254", + "Absent crus of helix": "HP:0011255", + "Helix, crus, absent": "HP:0011255", + "Crus of helix connected to antihelix": "HP:0011256", + "Helix, crus, connected to antihelix": "HP:0011256", + "Serpiginous crus of helix": "HP:0011257", + "Helix, crus, serpiginous": "HP:0011257", + "Tragal bridge of crus of helix": "HP:0011258", + "Helix, crus, tragal bridge": "HP:0011258", + "Expanded terminal portion of crus of helix": "HP:0011259", + "Helix, crus, expanded terminal portion": "HP:0011259", + "Darwin notch of helix": "HP:0011260", + "Helix, Darwin notch": "HP:0011260", + "Darwin tubercle of helix": "HP:0011261", + "Helix, Darwin tubercle": "HP:0011261", + "Crimped helix": "HP:0011262", + "Helix, crimped": "HP:0011262", + "Indented helix": "HP:0011262", + "Forward facing earlobe": "HP:0011263", + "Lobe, forward facing": "HP:0011263", + "Discontinuous ascending root of helix": "HP:0011264", + "Helix, discontinuous ascending root": "HP:0011264", + "Cleft earlobe": "HP:0011265", + "Bifid earlobe": "HP:0011265", + "Bifid lobe": "HP:0011265", + "Notched earlobe": "HP:0011265", + "Notched lobe": "HP:0011265", + "Microtia, first degree": "HP:0011266", + "First-degree microtia": "HP:0011266", + "Microtia, third degree": "HP:0011267", + "Abnormal shape/structure of ear": "HP:0011267", + "Third-degree microtia": "HP:0011267", + "Absent tragus": "HP:0011268", + "Bifid tragus": "HP:0011269", + "Notched tragus": "HP:0011269", + "Tragus, bifid": "HP:0011269", + "Duplicated tragus": "HP:0011270", + "Accessory tragus": "HP:0011270", + "Tragus, duplicated": "HP:0011270", + "Prominent tragus": "HP:0011271", + "Enlarged tragus": "HP:0011271", + "Hyperplastic tragus": "HP:0011271", + "Hypertrophic tragus": "HP:0011271", + "Large tragus": "HP:0011271", + "Tragus, prominent": "HP:0011271", + "Underdeveloped tragus": "HP:0011272", + "Hypoplastic tragus": "HP:0011272", + "Hypotrophic tragus": "HP:0011272", + "Small tragus": "HP:0011272", + "Anisocytosis": "HP:0011273", + "Unequal size of red blood cells": "HP:0011273", + "Recurrent mycobacterial infections": "HP:0011274", + "Recurrent mycobacterium avium complex infections": "HP:0011275", + "Vascular skin abnormality": "HP:0011276", + "Skin vascular malformation": "HP:0011276", + "Vascular abnormalities restricted to skin": "HP:0011276", + "Abnormality of the urinary system physiology": "HP:0011277", + "Intrapulmonary lobar sequestration": "HP:0011278", + "Intralobar sequestration": "HP:0011278", + "Intrapulmonary sequestration": "HP:0011278", + "Abnormality of urine bicarbonate level": "HP:0011279", + "Abnormality of urine HCO3 concentration": "HP:0011279", + "Abnormality of urine calcium concentration": "HP:0011280", + "Abnormality of urine Ca concentration": "HP:0011280", + "Abnormality of urine Ca2+ concentration": "HP:0011280", + "Abnormality of urine catecholamine level": "HP:0011281", + "Abnormal hindbrain morphology": "HP:0011282", + "Abnormal shape of hindbrain": "HP:0011282", + "Abnormality of hindbrain morphology": "HP:0011282", + "Abnormality of the hindbrain": "HP:0011282", + "Abnormal metencephalon morphology": "HP:0011283", + "Abnormality of the metencephalon": "HP:0011283", + "Short-segment aganglionic megacolon": "HP:0011284", + "Long-segment aganglionic megacolon": "HP:0011285", + "Total colonic aganglionosis": "HP:0011286", + "EEG with occipital sharp slow waves": "HP:0011287", + "EEG with parietal sharp slow waves": "HP:0011288", + "EEG with temporal sharp slow waves": "HP:0011289", + "EEG with frontal sharp slow waves": "HP:0011290", + "EEG with central sharp slow waves": "HP:0011291", + "EEG with occipital sharp waves": "HP:0011292", + "EEG with central sharp waves": "HP:0011293", + "EEG with frontal sharp waves": "HP:0011294", + "EEG with parietal sharp waves": "HP:0011295", + "EEG with temporal sharp waves": "HP:0011296", + "Abnormal digit morphology": "HP:0011297", + "Abnormality of digit": "HP:0011297", + "Abnormality of fingers or toes": "HP:0011297", + "Digital anomalies": "HP:0011297", + "Prominent digit pad": "HP:0011298", + "Partial absence of finger": "HP:0011299", + "Broad fingertip": "HP:0011300", + "Broad fingertips": "HP:0011300", + "Absent foot": "HP:0011301", + "Aplasia of the foot": "HP:0011301", + "Apodia": "HP:0011301", + "Long palm": "HP:0011302", + "Convex contour of sole": "HP:0011303", + "Broad thumb": "HP:0011304", + "Broad phalanges of the thumb": "HP:0011304", + "Broad thumbs": "HP:0011304", + "Wide/broad thumb": "HP:0011304", + "Wide/broad thumb phalanges": "HP:0011304", + "Partial absence of toe": "HP:0011305", + "Hypophalangy of toes": "HP:0011305", + "Splayed toes": "HP:0011307", + "Slender toe": "HP:0011308", + "Narrow toe": "HP:0011308", + "Tapered toe": "HP:0011309", + "Tapering toes": "HP:0011309", + "Bridged palmar crease": "HP:0011310", + "Bridged palm line": "HP:0011310", + "Transitional palmar crease": "HP:0011310", + "Sydney crease": "HP:0011311", + "Fused nails": "HP:0011312", + "Narrow nail": "HP:0011313", + "Abnormal long bone morphology": "HP:0011314", + "Abnormal shape of long bone": "HP:0011314", + "Abnormality of long bone morphology": "HP:0011314", + "Abnormality of the tubular bones": "HP:0011314", + "Unicoronal synostosis": "HP:0011315", + "Unilateral coronal suture craniosynostosis": "HP:0011315", + "Unilateral coronal suture synostosis": "HP:0011315", + "Unilateral coronal craniosynostosis": "HP:0011315", + "Left unicoronal synostosis": "HP:0011316", + "Right unicoronal synostosis": "HP:0011317", + "Bicoronal synostosis": "HP:0011318", + "Bilateral coronal craniosynostosis": "HP:0011318", + "Bilateral coronal suture craniosynostosis": "HP:0011318", + "Bilateral coronal suture synostosis": "HP:0011318", + "Bilambdoid synostosis": "HP:0011319", + "Bilateral lambdoid craniosynostosis": "HP:0011319", + "Bilateral lambdoid suture synostosis": "HP:0011319", + "Unilambdoid synostosis": "HP:0011320", + "Unilateral lambdoid craniosynostosis": "HP:0011320", + "Unilateral lambdoid suture synostosis": "HP:0011320", + "Left unilambdoid synostosis": "HP:0011321", + "Right unilambdoid synostosis": "HP:0011322", + "Cleft of chin": "HP:0011323", + "Midline defect of chin": "HP:0011323", + "Multiple suture craniosynostosis": "HP:0011324", + "Multisutural craniosynostosis": "HP:0011324", + "Pansynostosis": "HP:0011325", + "Sysnostosis of all cranial sutures": "HP:0011325", + "Anterior plagiocephaly": "HP:0011326", + "Anterior flat head syndrome": "HP:0011326", + "Deformational frontal plagiocephaly": "HP:0011326", + "Frontal plagiocephaly": "HP:0011326", + "Deformational anterior plagiocephaly": "HP:0011326", + "Positional anterior plagiocephaly": "HP:0011326", + "Positional frontal plagiocephaly": "HP:0011326", + "Coronal synostosis": "HP:0011326", + "Unicoronal craniosynostosis": "HP:0011326", + "Posterior plagiocephaly": "HP:0011327", + "Deformational posterior plagiocephaly": "HP:0011327", + "Occipital plagiocephaly": "HP:0011327", + "Abnormal fontanelle morphology": "HP:0011328", + "Anomaly of the fontanelles": "HP:0011328", + "Abnormality of cranial sutures": "HP:0011329", + "Abnormality of the bregma sutures": "HP:0011329", + "Abnormality of the calvarium sutures": "HP:0011329", + "Abnormality of the cranial sutures": "HP:0011329", + "Abnormality of the skull suture": "HP:0011329", + "Metopic synostosis": "HP:0011330", + "Metopic craniosynostosis": "HP:0011330", + "Metopic suture craniosynostosis": "HP:0011330", + "Hemifacial atrophy": "HP:0011331", + "Atrophy of half of face": "HP:0011331", + "Atrophy of one side of the face": "HP:0011331", + "Facial hemiatrophy": "HP:0011331", + "Hemifacial hypoplasia": "HP:0011332", + "Decrease in size of half of face": "HP:0011332", + "Decrease in size of one side of the face": "HP:0011332", + "Decreased size of half of the face": "HP:0011332", + "Decreased size of one side of the face": "HP:0011332", + "Shrinking of half of face": "HP:0011332", + "Shrinking of one side of the face": "HP:0011332", + "Hemifacial microsomia": "HP:0011332", + "Asymmetric crying face": "HP:0011333", + "Partial unilateral facial paresis": "HP:0011333", + "Hypoplasia of depressor angula oris muscle": "HP:0011333", + "Facial shape deformation": "HP:0011334", + "Facial shape compression": "HP:0011334", + "Distortion of facial shape": "HP:0011334", + "Frontal hirsutism": "HP:0011335", + "Hairy forehead": "HP:0011335", + "Hirsute forehead": "HP:0011335", + "Bitemporal forceps marks": "HP:0011336", + "Bitemporal aplasia cutis congenita": "HP:0011336", + "Congenital ectodermal dysplasia of the face": "HP:0011336", + "Congenital, bilateral, scarlike facial lesions": "HP:0011336", + "Focal facial dermal dysplasia": "HP:0011336", + "Temporal skin defect": "HP:0011336", + "Abnormality of mouth size": "HP:0011337", + "Anomaly of mouth size": "HP:0011337", + "Abnormality of mouth shape": "HP:0011338", + "Anomaly of mouth shape": "HP:0011338", + "Unusual mouth shape": "HP:0011338", + "Abnormality of upper lip vermillion": "HP:0011339", + "Abnormality of the red part of the upper lip": "HP:0011339", + "Anomaly of the upper lip vermillion": "HP:0011339", + "Deformity of the upper lip vermillion": "HP:0011339", + "Malformation of the upper lip vermillion": "HP:0011339", + "Incomplete cleft of the upper lip": "HP:0011340", + "Forme fruste unilateral cleft lip": "HP:0011340", + "Incomplete cheiloschisis": "HP:0011340", + "Notched cleft of the upper lip": "HP:0011340", + "Partial cleft of the upper lip": "HP:0011340", + "Long upper lip": "HP:0011341", + "Elongation of upper lip": "HP:0011341", + "Increased height of upper lip": "HP:0011341", + "Increased vertical length of upper lip": "HP:0011341", + "Mild global developmental delay": "HP:0011342", + "Global developmental delay, mild": "HP:0011342", + "Psychomotor retardation, mild": "HP:0011342", + "Moderate global developmental delay": "HP:0011343", + "Global developmental delay, moderate": "HP:0011343", + "Psychomotor retardation, moderate": "HP:0011343", + "Severe global developmental delay": "HP:0011344", + "Global developmental delay, severe": "HP:0011344", + "Severe psychomotor retardation": "HP:0011344", + "Moderate expressive language delay": "HP:0011345", + "Mild expressive language delay": "HP:0011346", + "Abnormality of ocular abduction": "HP:0011347", + "Abnormal sixth cranial nerve morphology": "HP:0011348", + "Abnormal abducens nerve morphology": "HP:0011348", + "Abnormality of the sixth cranial nerve": "HP:0011348", + "obsolete Abducens palsy": "HP:0011349", + "Mild receptive language delay": "HP:0011350", + "Moderate receptive language delay": "HP:0011351", + "Severe receptive language delay": "HP:0011352", + "Arterial intimal fibrosis": "HP:0011353", + "Intimal fibrosis": "HP:0011353", + "Generalized abnormality of skin": "HP:0011354", + "Generalised abnormality of skin": "HP:0011354", + "Localized skin lesion": "HP:0011355", + "Localised skin lesion": "HP:0011355", + "Regional abnormality of skin": "HP:0011356", + "obsolete Abnormality of hair density": "HP:0011357", + "Generalized hypopigmentation of hair": "HP:0011358", + "Generalised hypopigmentation of hair": "HP:0011358", + "Dry hair": "HP:0011359", + "Acquired abnormal hair pattern": "HP:0011360", + "Congenital abnormal hair pattern": "HP:0011361", + "Abnormal hair pattern since birth": "HP:0011361", + "Abnormal hair quantity": "HP:0011362", + "Abnormality of hair density": "HP:0011362", + "Abnormality of hair growth rate": "HP:0011363", + "Abnormality of pace of hair growth": "HP:0011363", + "Abnormality of speed of hair growth": "HP:0011363", + "White hair": "HP:0011364", + "Patchy hypopigmentation of hair": "HP:0011365", + "Yellow nails": "HP:0011367", + "Epidermal thickening": "HP:0011368", + "Abnormality of keratinization": "HP:0011368", + "Mongolian blue spot": "HP:0011369", + "Recurrent cutaneous fungal infections": "HP:0011370", + "Recurrent viral skin infections": "HP:0011371", + "Aplasia of the inner ear": "HP:0011372", + "Absent inner ear": "HP:0011372", + "Aplasia of the labyrinth": "HP:0011372", + "Labyrinthine aplasia": "HP:0011372", + "Michel deformity": "HP:0011372", + "Incomplete partition of the cochlea": "HP:0011373", + "Incomplete partition of the cochlea type I": "HP:0011374", + "Cochlear aplasia": "HP:0011375", + "Absent cochlea": "HP:0011375", + "Abnormal morphology of the vestibule of the inner ear": "HP:0011376", + "Morphological abnormality of the vestibule of the inner ear": "HP:0011376", + "Vestibular abnormality": "HP:0011376", + "Aplasia of the vestibule": "HP:0011377", + "Absent vestibule": "HP:0011377", + "Hypoplasia of the vestibule of the inner ear": "HP:0011378", + "Dilated vestibule of the inner ear": "HP:0011379", + "Abnormal semicircular canal morphology": "HP:0011380", + "Morphological abnormality of the semicircular canal": "HP:0011380", + "Aplasia of the semicircular canal": "HP:0011381", + "Absent semicircular canal": "HP:0011381", + "Hypoplasia of the semicircular canal": "HP:0011382", + "Small semicircular canal": "HP:0011382", + "Hypoplasia of the semicircular canals": "HP:0011382", + "Enlarged semicircular canal": "HP:0011383", + "Dilated semicircular canal": "HP:0011383", + "Abnormality of the internal auditory canal": "HP:0011384", + "Abnormality of the internal acoustic meatus": "HP:0011384", + "Absent internal auditory canal": "HP:0011385", + "Narrow internal auditory canal": "HP:0011386", + "Enlarged vestibular aqueduct": "HP:0011387", + "Dilated vestibular aqueduct": "HP:0011387", + "Widened vestibular aqueduct": "HP:0011387", + "Enlarged cochlear aqueduct": "HP:0011388", + "Dilated cochlear aqueduct": "HP:0011388", + "Functional abnormality of the inner ear": "HP:0011389", + "Abnormal inner ear morphology": "HP:0011390", + "Morphological abnormality of the inner ear": "HP:0011390", + "Abnormal inner ear nerve morphology": "HP:0011391", + "Morphological abnormality of the nerves of the inner ear": "HP:0011391", + "Abnormality of the vestibular nerve": "HP:0011392", + "Aplasia of the vestibular nerve.": "HP:0011393", + "Absent cranial nerve viii": "HP:0011393", + "Absent the eighth cranial nerve": "HP:0011393", + "Absent vestribular nerve": "HP:0011393", + "Aplasia of the eighth cranial nerve": "HP:0011393", + "Aplasia of cranial nerve VIII": "HP:0011393", + "Hypoplasia of the vestibular nerve": "HP:0011394", + "Hypoplasia of the eighth cranial nerve": "HP:0011394", + "Thin vestibular nerve": "HP:0011394", + "Hypoplasia of cranial nerve VIII": "HP:0011394", + "Aplasia/Hypoplasia of the cochlea": "HP:0011395", + "Absent/small cochlea": "HP:0011395", + "Absent/underdeveloped cochlea": "HP:0011395", + "Abnormality of the cochlear nerve": "HP:0011396", + "Abnormality of the dorsal column of the spinal cord": "HP:0011397", + "obsolete Central hypotonia": "HP:0011398", + "Tibialis anterior muscle atrophy": "HP:0011399", + "Sharp shin sign": "HP:0011399", + "Tibialis anterior amyotrophy": "HP:0011399", + "Tibialis muscle degeneration": "HP:0011399", + "Abnormal CNS myelination": "HP:0011400", + "Abnormal formation of myelin sheaths": "HP:0011400", + "Delayed peripheral myelination": "HP:0011401", + "Demyelinating sensory neuropathy": "HP:0011402", + "Abnormal umbilical cord blood vessel morphology": "HP:0011403", + "Abnormal umbilical cord blood vessels": "HP:0011403", + "Lethal short-trunk short stature": "HP:0011404", + "Lethal short-trunk dwarfism": "HP:0011404", + "Childhood onset short-limb short stature": "HP:0011405", + "Short-limb dwarfism identifiable during childhood": "HP:0011405", + "Infancy onset short-trunk short stature": "HP:0011406", + "Short-trunk dwarfism, identifiable in infancy": "HP:0011406", + "Proportionate tall stature": "HP:0011407", + "Moderate intrauterine growth retardation": "HP:0011408", + "Abnormal placental membrane morphology": "HP:0011409", + "Abnormality of placental membranes": "HP:0011409", + "Caesarean section": "HP:0011410", + "Forceps delivery": "HP:0011411", + "Ventouse delivery": "HP:0011412", + "Vacuum extraction": "HP:0011412", + "Vacuum-assisted vaginal delivery": "HP:0011412", + "Shoulder dystocia": "HP:0011413", + "Hydropic placenta": "HP:0011414", + "Hydrops of the placenta": "HP:0011414", + "Calcified placenta": "HP:0011415", + "Placental calcification": "HP:0011415", + "Placental infarction": "HP:0011416", + "Placental thromboembolism": "HP:0011416", + "Long umbilical cord": "HP:0011417", + "Abnormal insertion of umbilical cord": "HP:0011418", + "Placental abruption": "HP:0011419", + "Abruptio placentae": "HP:0011419", + "Age of death": "HP:0011420", + "Death in adolescence": "HP:0011421", + "Abnormal blood chloride concentration": "HP:0011422", + "Abnormal blood Cl concentration": "HP:0011422", + "Abnormal blood Cl- concentration": "HP:0011422", + "Abnormality of chloride homeostasis": "HP:0011422", + "Hyperchloremia": "HP:0011423", + "Increased serum zinc": "HP:0011424", + "Hyperzincemia": "HP:0011424", + "Fetal ultrasound soft marker": "HP:0011425", + "Foetal ultrasound soft marker": "HP:0011425", + "Fetal choroid plexus cysts": "HP:0011426", + "Foetal choroid plexus cysts": "HP:0011426", + "Enlarged fetal cisterna magna": "HP:0011427", + "Enlarged foetal cisterna magna": "HP:0011427", + "Short fetal femur length": "HP:0011428", + "Short fetal thigh bone length": "HP:0011428", + "Short foetal femur length": "HP:0011428", + "Short foetal thigh bone length": "HP:0011428", + "Short fetal humerus length": "HP:0011429", + "Short fetal long bone in upper arm length": "HP:0011429", + "Short foetal humerus length": "HP:0011429", + "Short foetal long bone in upper arm length": "HP:0011429", + "Hypoplasia of fetal nasal bone": "HP:0011430", + "Hypoplasia of foetal nasal bone": "HP:0011430", + "Underdeveloped fetal nose bone": "HP:0011430", + "Underdeveloped foetal nose bone": "HP:0011430", + "Fetal fifth finger clinodactyly": "HP:0011431", + "Fetal little finger curvature": "HP:0011431", + "Fetal pinkie finger curvature": "HP:0011431", + "Fetal pinky finger curvature": "HP:0011431", + "Foetal little finger curvature": "HP:0011431", + "Foetal pinkie finger curvature": "HP:0011431", + "Foetal pinky finger curvature": "HP:0011431", + "Foetal fifth finger clinodactyly": "HP:0011431", + "Elevated maternal circulating alpha-fetoprotein concentration": "HP:0011432", + "Elevated maternal serum alpha-fetoprotein": "HP:0011432", + "High MSAFP MoM": "HP:0011432", + "High maternal circulating alpha-fetoprotein concentration": "HP:0011432", + "High maternal serum alpha-fetoprotein": "HP:0011432", + "High maternal serum alpha-fetoprotein MoM": "HP:0011432", + "Increased maternal serum alpha-fetoprotein level": "HP:0011432", + "MSAFP MoM>2.5": "HP:0011432", + "High maternal circulating chorionic gonadotropin concentration": "HP:0011433", + "High maternal serum chorionic gonadotropin": "HP:0011433", + "High maternal serum hCG": "HP:0011433", + "Low maternal circulating chorionic gonadotropin concentration": "HP:0011434", + "Low maternal serum chorionic gonadotropin": "HP:0011434", + "Low maternal serum hCG": "HP:0011434", + "Low maternal circulating PAPP-A concentration": "HP:0011435", + "Low maternal serum PAPP-A": "HP:0011435", + "Abnormal maternal serum screening": "HP:0011436", + "Maternal autoimmune disease": "HP:0011437", + "Maternal teratogenic exposure": "HP:0011438", + "Anesthetic-induced rhabdomylosis": "HP:0011439", + "Alcohol-induced rhabdomyolysis": "HP:0011440", + "Abnormal medulla oblongata morphology": "HP:0011441", + "Abnormality of the medulla oblongata": "HP:0011441", + "Abnormality of the myencephalon": "HP:0011441", + "Abnormal central motor function": "HP:0011442", + "Abnormality of central motor function": "HP:0011442", + "Abnormality of coordination": "HP:0011443", + "Coordination issue": "HP:0011443", + "Decorticate rigidity": "HP:0011444", + "Athetoid cerebral palsy": "HP:0011445", + "Dyskinetic cerebral palsy": "HP:0011445", + "Abnormality of mental function": "HP:0011446", + "Abnormality of higher mental function": "HP:0011446", + "Hyposegmentation of neutrophil nuclei": "HP:0011447", + "Hyposegmentation of neutrophil nuclei in peripheral blood": "HP:0011447", + "Pelger-Huet anomaly": "HP:0011447", + "Ankle clonus": "HP:0011448", + "Abnormal rhythmic movements of ankle": "HP:0011448", + "Knee clonus": "HP:0011449", + "Patellar clonus": "HP:0011449", + "Unusual CNS infection": "HP:0011450", + "Central nervous system infection": "HP:0011450", + "Primary microcephaly": "HP:0011451", + "Congenital small head": "HP:0011451", + "Congenital small head circumference": "HP:0011451", + "Small head circumference present at birth": "HP:0011451", + "Small head present at birth": "HP:0011451", + "Small skull present at birth": "HP:0011451", + "Congenital decreased head circumference": "HP:0011451", + "Congenital microcephaly": "HP:0011451", + "Congenital small skull": "HP:0011451", + "Decreased head circumference present at birth": "HP:0011451", + "Microcephaly present at birth": "HP:0011451", + "Small cranium present at birth": "HP:0011451", + "Head circumference small for gestational age": "HP:0011451", + "Functional abnormality of the middle ear": "HP:0011452", + "Abnormal incus morphology": "HP:0011453", + "Abnormality of the incus": "HP:0011453", + "Abnormal malleus morphology": "HP:0011454", + "Abnormality of the malleus": "HP:0011454", + "Absent malleus": "HP:0011455", + "Absent stapes": "HP:0011456", + "Loss of eyelashes": "HP:0011457", + "Ciliary Madarosis": "HP:0011457", + "Eyelashes fell out": "HP:0011457", + "Milphosis": "HP:0011457", + "Missing eyelashes": "HP:0011457", + "Abdominal symptom": "HP:0011458", + "Esophageal carcinoma": "HP:0011459", + "Embryonal onset": "HP:0011460", + "Fetal onset": "HP:0011461", + "Foetal onset": "HP:0011461", + "Young adult onset": "HP:0011462", + "Childhood onset": "HP:0011463", + "Symptoms begin in childhood": "HP:0011463", + "Aganglionosis of the small intestine": "HP:0011464", + "Duodenal aganglionosis": "HP:0011465", + "Aplasia/Hypoplasia of the gallbladder": "HP:0011466", + "Absent/small gallbladder": "HP:0011466", + "Absent/underdeveloped gallbladder": "HP:0011466", + "Absent gallbladder": "HP:0011467", + "Agenesis of the gallbladder": "HP:0011467", + "Aplasia of the gallbladder": "HP:0011467", + "Facial tics": "HP:0011468", + "Myoclonus of facial muscles": "HP:0011468", + "Cramping of facial muscles": "HP:0011468", + "Facial spasms": "HP:0011468", + "Jerking of facial muscles": "HP:0011468", + "Mimic spasms": "HP:0011468", + "Spasms of facial muscles": "HP:0011468", + "Twitching of facial muscles": "HP:0011468", + "Involuntary facial muscle spasms": "HP:0011468", + "Muscle spasm of face": "HP:0011468", + "Nasal regurgitation": "HP:0011469", + "Nasogastric tube feeding in infancy": "HP:0011470", + "Gastrostomy tube feeding in infancy": "HP:0011471", + "PEG-fed in infancy": "HP:0011471", + "Abnormal small intestinal villus morphology": "HP:0011472", + "Abnormal shape of small intestinal villus": "HP:0011472", + "Abnormality of small intestinal villus morphology": "HP:0011472", + "Villous atrophy": "HP:0011473", + "Atrophy of small intestinal villi": "HP:0011473", + "Villous degeneration": "HP:0011473", + "Biopsy shows villous atrophy": "HP:0011473", + "Duodenal villous atrophy": "HP:0011473", + "Small intestine biopsy shows villous atrophy": "HP:0011473", + "Variable degree of villous atrophy": "HP:0011473", + "Childhood onset sensorineural hearing impairment": "HP:0011474", + "Persistent stapedial artery": "HP:0011475", + "Profound sensorineural hearing impairment": "HP:0011476", + "Upbeat nystagmus": "HP:0011477", + "True anophthalmia": "HP:0011478", + "Complete anophthalmia": "HP:0011478", + "Completely missing eyeball": "HP:0011478", + "Total anophthalmia": "HP:0011478", + "Abnormal lacrimal punctum morphology": "HP:0011479", + "Abnormality of the lacrimal punctum": "HP:0011479", + "Unilateral microphthalmos": "HP:0011480", + "Abnormally small eyeball on one side": "HP:0011480", + "Unilateral nanophthalmos": "HP:0011480", + "Abnormal lacrimal duct morphology": "HP:0011481", + "Abnormality of the lacrimal canaliculus": "HP:0011481", + "Abnormality of the lacrimal duct": "HP:0011481", + "Abnormal lacrimal gland morphology": "HP:0011482", + "Abnormality of the lacrimal gland": "HP:0011482", + "Anterior synechiae of the anterior chamber": "HP:0011483", + "Anterior synechiae": "HP:0011483", + "Cornea-iris adhesion": "HP:0011483", + "Iridocorneal adhesions": "HP:0011483", + "Iridocorneal synechia": "HP:0011483", + "Posterior synechiae of the anterior chamber": "HP:0011484", + "Iridolenticular adhesions": "HP:0011484", + "Posterior synechiae": "HP:0011484", + "Corneolenticular adhesion": "HP:0011485", + "Abnormal corneal thickness": "HP:0011486", + "Abnormality of corneal thickness": "HP:0011486", + "Increased corneal thickness": "HP:0011487", + "Abnormal corneal endothelium morphology": "HP:0011488", + "Abnormality of corneal endothelium": "HP:0011488", + "Abnormal migration of corneal endothelium": "HP:0011489", + "Abnormal Descemet membrane morphology": "HP:0011490", + "Abnormality of Descemet's membrane": "HP:0011490", + "Reduced number of corneal endothelial cells": "HP:0011491", + "Abnormal corneal stroma morphology": "HP:0011492", + "Abnormality of corneal stroma": "HP:0011492", + "Central opacification of the cornea": "HP:0011493", + "Generalized opacification of the cornea": "HP:0011494", + "Generalised opacification of the cornea": "HP:0011494", + "Abnormal corneal epithelium morphology": "HP:0011495", + "Abnormality of corneal epithelium": "HP:0011495", + "Corneal neovascularization": "HP:0011496", + "Corneal neovascularisation": "HP:0011496", + "Corneal vascularization": "HP:0011496", + "Limbal neovascularization": "HP:0011496", + "New blood vessel formation in cornea": "HP:0011496", + "Corneal pannus": "HP:0011496", + "Rubeosis iridis": "HP:0011497", + "Iris neovascularization": "HP:0011497", + "Neovascularization of the iris": "HP:0011497", + "New blood vessel formation in iris": "HP:0011497", + "obsolete Partial aniridia": "HP:0011498", + "Mydriasis": "HP:0011499", + "Dilated pupil": "HP:0011499", + "Polycoria": "HP:0011500", + "Multiple pupils": "HP:0011500", + "Anterior lenticonus": "HP:0011501", + "Posterior lenticonus": "HP:0011502", + "Aplasia of the fovea": "HP:0011503", + "Absent fovea": "HP:0011503", + "Bull's eye maculopathy": "HP:0011504", + "Annular macular dystrophy": "HP:0011504", + "Chloroquine retinopathy": "HP:0011504", + "Cystoid macular edema": "HP:0011505", + "Choroidal neovascularization": "HP:0011506", + "Choroidal neovascular membrane": "HP:0011506", + "Macular flecks": "HP:0011507", + "Macular hole": "HP:0011508", + "Macular hyperpigmentation": "HP:0011509", + "Drusen": "HP:0011510", + "Macular schisis": "HP:0011511", + "Hyperpigmentation of the fundus": "HP:0011512", + "Hyperpigmented fundi": "HP:0011512", + "Hyperpigmented fundus": "HP:0011512", + "Retinal cavernous hemangioma": "HP:0011513", + "Retinal cavernous angioma": "HP:0011513", + "Retinal cavernous haemangioma": "HP:0011513", + "Abnormality of binocular vision": "HP:0011514", + "Abnormal stereopsis": "HP:0011515", + "Achromatopsia": "HP:0011516", + "Rod monochromacy": "HP:0011516", + "Rod monochromatism": "HP:0011516", + "Cone monochromacy": "HP:0011517", + "Dichromacy": "HP:0011518", + "Anomalous trichromacy": "HP:0011519", + "Deuteranomaly": "HP:0011520", + "Deuteranomoly": "HP:0011520", + "Green-weak": "HP:0011520", + "Deuteranopia": "HP:0011521", + "Green-blind": "HP:0011521", + "Protanopia": "HP:0011522", + "Red-blind": "HP:0011522", + "Iris cyst": "HP:0011523", + "Iris melanoma": "HP:0011524", + "Iris nevus": "HP:0011525", + "Eye freckle": "HP:0011525", + "Abnormality of lens shape": "HP:0011526", + "Lentiglobus": "HP:0011527", + "Bulging of eye lens": "HP:0011527", + "Solitary congenital hypertrophy of retinal pigment epithelium": "HP:0011528", + "Single isolated CHRPE": "HP:0011528", + "Single isolated congenital hypertrophy of retinal pigment epithelium": "HP:0011528", + "Multiple bilateral congenital hypertrophy of retinal pigment epithelium": "HP:0011529", + "Multiple bilateral CHRPE": "HP:0011529", + "Retinal hole": "HP:0011530", + "Retinal holes": "HP:0011530", + "Vitritis": "HP:0011531", + "Hyalitis": "HP:0011531", + "Vitreitis": "HP:0011531", + "Subretinal exudate": "HP:0011532", + "Snowflake vitreoretinal degeneration": "HP:0011533", + "Snowflake retinal degeneration": "HP:0011533", + "Abnormal spatial orientation of the cardiac segments": "HP:0011534", + "Abnormal atrial arrangement": "HP:0011535", + "Abnormal location of heart atrium": "HP:0011535", + "Right atrial isomerism": "HP:0011536", + "Left atrial isomerism": "HP:0011537", + "Atrial situs inversus": "HP:0011538", + "Atrial situs ambiguous": "HP:0011539", + "Atrial heterotaxy": "HP:0011539", + "Atrial situs ambiguus": "HP:0011539", + "Congenitally corrected transposition of the great arteries": "HP:0011540", + "L-transposition": "HP:0011540", + "Ventricular inversion": "HP:0011540", + "Criss-cross atrioventricular valves": "HP:0011541", + "Criss-cross atrioventricular valves with superior-inferior ventricles": "HP:0011542", + "Superior-inferior ventricles without criss-cross atrioventricular valves": "HP:0011543", + "L-looping of the right ventricle": "HP:0011544", + "Abnormal connection of the cardiac segments": "HP:0011545", + "Abnormal connexion of the cardiac segments": "HP:0011545", + "Discordant connection of the cardiac segments": "HP:0011545", + "Abnormal atrioventricular connection": "HP:0011546", + "Abnormal atrioventricular connexion": "HP:0011546", + "Absent left sided atrioventricular connection": "HP:0011547", + "Absent left sided atrioventricular connexion": "HP:0011547", + "Absent right sided atrioventricular connection": "HP:0011548", + "Absent right sided atrioventricular connexion": "HP:0011548", + "Univentricular heart with absent left sided atrioventricular connection": "HP:0011549", + "Univentricular heart with absent left sided atrioventricular connexion": "HP:0011549", + "Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection": "HP:0011550", + "Right sided atrium to left ventricle and absent left sided atrioventricular connection": "HP:0011551", + "Right sided atrium to left ventricle and absent left sided atrioventricular connexion": "HP:0011551", + "Ambiguous atrioventricular connection": "HP:0011552", + "Ambiguous atrioventricular connexion": "HP:0011552", + "Discordant atrioventricular connection": "HP:0011553", + "Discordant atrioventricular connexion": "HP:0011553", + "Double inlet atrioventricular connection": "HP:0011554", + "Double inlet atrioventricular connexion": "HP:0011554", + "Double inlet left ventricle": "HP:0011555", + "Double inlet right ventricle": "HP:0011556", + "Double inlet to single ventricle of indeterminate morphology": "HP:0011557", + "Double inlet to single ventricle with common atrioventricular orifice": "HP:0011558", + "Double inlet to single ventricle with two atrioventricular valves": "HP:0011559", + "Mitral atresia": "HP:0011560", + "Mitral valve atresia": "HP:0011560", + "Overriding atrioventricular valve": "HP:0011561", + "Straddling atrioventricular valve": "HP:0011562", + "Abnormal ventriculoarterial connection": "HP:0011563", + "Abnormal ventriculo-arterial connection": "HP:0011563", + "Abnormal ventriculoarterial connexion": "HP:0011563", + "Mitral valve arcade": "HP:0011564", + "Hammock mitral valve": "HP:0011564", + "Common atrium": "HP:0011565", + "Single atrium": "HP:0011565", + "Cor triatriatum dexter": "HP:0011566", + "Cor triatriatum dextrum": "HP:0011566", + "Sinus venosus atrial septal defect": "HP:0011567", + "Double orifice mitral valve": "HP:0011568", + "Cleft anterior mitral valve leaflet": "HP:0011569", + "Congenital mitral stenosis": "HP:0011570", + "Parachute mitral valve": "HP:0011571", + "Supramitral ring": "HP:0011572", + "Membranous supravalvular mitral stenosis": "HP:0011572", + "Supravalvular mitral ring": "HP:0011572", + "Hypoplastic tricuspid valve": "HP:0011573", + "Tricuspid valve hypoplasia": "HP:0011573", + "Underdeveloped tricuspid valve": "HP:0011573", + "Imperforate atrioventricular valve": "HP:0011574", + "Unopened atrioventricular valve": "HP:0011574", + "Imperforate tricuspid valve": "HP:0011575", + "Unopened tricuspid valve": "HP:0011575", + "Intermediate atrioventricular canal defect": "HP:0011576", + "Intermediate atrioventricular septal defect": "HP:0011576", + "Partial atrioventricular canal defect": "HP:0011577", + "Incomplete AVSD": "HP:0011577", + "Incomplete atrioventricular septal defect": "HP:0011577", + "PAVSD": "HP:0011577", + "Partial AVC defect": "HP:0011577", + "Partial AVSD": "HP:0011577", + "Partial atrioventricular septal defect": "HP:0011577", + "Transitional atrioventricular canal defect": "HP:0011578", + "Unbalanced atrioventricular canal defect": "HP:0011579", + "Unbalanced atrioventricular septal defect": "HP:0011579", + "Short chordae tendineae of the mitral valve": "HP:0011580", + "Double outlet left ventricle": "HP:0011581", + "Abdominal ectopia cordis": "HP:0011582", + "Cervical ectopia cordis": "HP:0011583", + "Thoracocervical ectopia cordis": "HP:0011584", + "Thoracic ectopia cordis": "HP:0011585", + "Thoracoabdominal ectopia cordis": "HP:0011586", + "Abnormal branching pattern of the aortic arch": "HP:0011587", + "Cervical aortic arch": "HP:0011588", + "Common origin of the right brachiocephalic artery and left common carotid artery": "HP:0011589", + "Common brachiocephalic trunk": "HP:0011589", + "Bovine arch": "HP:0011589", + "Ovine arch": "HP:0011589", + "Double aortic arch": "HP:0011590", + "Left aortic arch with cervical origin of the right subclavian artery": "HP:0011591", + "Left aortic arch with isolated subclavian artery": "HP:0011592", + "Left aortic arch with retroesophageal diverticulum of Kommerell": "HP:0011593", + "Kommerell diverticulum": "HP:0011593", + "Right aortic arch with retroesophageal diverticulum of Kommerell": "HP:0011594", + "Left aortic arch with retroesophageal right subclavian artery": "HP:0011595", + "Left aortic arch with right descending aorta and right ductus arteriosus": "HP:0011596", + "Right aortic arch with left descending aorta and left ductus arteriosus": "HP:0011597", + "Right aortic arch with retroesophageal left subclavian artery": "HP:0011598", + "Right aortic arch with aberrant left subclavian artery": "HP:0011598", + "Right aortic arch with anomalous left subclavian artery": "HP:0011598", + "Mesocardia": "HP:0011599", + "Abnormal direction of ventricular apex": "HP:0011600", + "Rightward direction of ventricular apex": "HP:0011601", + "Midline direction of ventricular apex": "HP:0011602", + "Congenital malformation of the great arteries": "HP:0011603", + "Aortopulmonary window": "HP:0011604", + "Congenitally corrected transposition of the great arteries with ventricular septal defect": "HP:0011605", + "CCTGA": "HP:0011605", + "ccTGA": "HP:0011605", + "obsolete Transposition of the great arteries with intact ventricular septum": "HP:0011606", + "obsolete Transposition of the great arteries with ventricular septal defect": "HP:0011607", + "Type II truncus arteriosus": "HP:0011608", + "Persistent truncus arteriosus type II": "HP:0011608", + "Type 2 truncus arteriosus": "HP:0011608", + "Type III truncus arteriosus": "HP:0011609", + "Persistent truncus arteriosus type III": "HP:0011609", + "Type 3 truncus arteriosus": "HP:0011609", + "Type IV truncus arteriosus": "HP:0011610", + "Persistent truncus arteriosus type IV": "HP:0011610", + "Type 4 truncus arteriosus": "HP:0011610", + "Interrupted aortic arch": "HP:0011611", + "Atretic transverse aortic arch": "HP:0011611", + "Aortic arch obstruction": "HP:0011611", + "Interrupted aortic arch type A": "HP:0011612", + "Interrupted aortic arch type B": "HP:0011613", + "Interrupted aortic arch, type b": "HP:0011613", + "Interrupted aortic arch type C": "HP:0011614", + "Abnormal pulmonary situs morphology": "HP:0011615", + "Abnormality of pulmonary situs": "HP:0011615", + "Pulmonary situs inversus": "HP:0011616", + "Pulmonary situs ambiguus": "HP:0011617", + "Pulmonary situs ambiguus with bilateral morphologic right lungs": "HP:0011618", + "Pulmonary situs ambiguus with bilateral morphologic left lungs": "HP:0011619", + "Abnormality of abdominal situs": "HP:0011620", + "Gerbode ventricular septal defect": "HP:0011621", + "Left ventricular - right atrial communication": "HP:0011621", + "Inlet ventricular septal defect": "HP:0011622", + "Atrioventricular canal type ventricular septal defect": "HP:0011622", + "Type 3 ventricular septal defect": "HP:0011622", + "Muscular ventricular septal defect": "HP:0011623", + "Type 4 ventricular septal defect": "HP:0011623", + "Ventricular septal defect, muscular": "HP:0011623", + "Apical muscular ventricular septal defect": "HP:0011624", + "Multiple muscular ventricular septal defects": "HP:0011625", + "Swiss cheese ventricular septal defect": "HP:0011625", + "Scimitar anomaly": "HP:0011626", + "Pulmonary venolobar syndrome": "HP:0011626", + "Scimitar syndrome": "HP:0011626", + "Aorto-ventricular tunnel": "HP:0011627", + "Congenital defect of the pericardium": "HP:0011628", + "Total absence of the pericardium": "HP:0011629", + "Absent pericardium": "HP:0011629", + "Congenital absence of the pericardium": "HP:0011629", + "Complete diaphragmatic absence of pericardium": "HP:0011630", + "Complete right sided absence of pericardium": "HP:0011631", + "Partial right sided absence of pericardium": "HP:0011632", + "Complete left sided absence of pericardium": "HP:0011633", + "Absent lining around of left side of heart": "HP:0011633", + "Partial left sided absence of pericardium": "HP:0011634", + "Partial diaphragmatic absence of pericardium": "HP:0011635", + "Abnormal coronary artery origin": "HP:0011636", + "Anomalous origin of coronary artery from the pulmonary artery": "HP:0011637", + "Anomalous origin of left coronary artery from the pulmonary artery": "HP:0011638", + "ALCAPA": "HP:0011638", + "Anomalous left coronary artery from the pulmonary artery": "HP:0011638", + "Bland-Garland-White syndrome": "HP:0011638", + "Anomalous origin of right coronary artery from the pulmonary artery": "HP:0011639", + "Single coronary artery origin": "HP:0011640", + "Coronary artery fistula": "HP:0011641", + "Coronary fistula": "HP:0011641", + "Abnormal coronary sinus morphology": "HP:0011642", + "Abnormality of the coronary sinus": "HP:0011642", + "Coronary sinus atrial septal defect": "HP:0011643", + "Coronary sinus diverticulum": "HP:0011644", + "Diverticulum of the coronary sinus": "HP:0011644", + "Dilatation of the sinus of Valsalva": "HP:0011645", + "Aortic sinus aneurysm": "HP:0011645", + "Aneurysm of the aortic sinus": "HP:0011645", + "Sinus of Valsalva aneurysm": "HP:0011645", + "Juxtaductal coarctation of the aorta": "HP:0011646", + "Postductal coarctation of the aorta": "HP:0011647", + "Postductal aortic coarctation": "HP:0011647", + "Patent ductus arteriosus after birth at term": "HP:0011648", + "Patent ductus arteriosus after premature birth": "HP:0011649", + "Bilateral ductus arteriosus": "HP:0011650", + "Bilateral ductus botalli": "HP:0011650", + "Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis": "HP:0011651", + "DORV with doubly committed VSD and pulmonary stenosis": "HP:0011651", + "Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis": "HP:0011652", + "DORV with doubly committed VSD": "HP:0011652", + "Double outlet right ventricle, doubly committed ventricular septal defect": "HP:0011652", + "Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis": "HP:0011653", + "DORV with non-committed VSD and pulmonary stenosis": "HP:0011653", + "Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis": "HP:0011654", + "DORV with non-committed VSD without pulmonary stenosis": "HP:0011654", + "Double outlet right ventricle, noncommitted ventricular septal defect": "HP:0011654", + "Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis": "HP:0011655", + "DORV with subaortic VSD and pulmonary stenosis": "HP:0011655", + "Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis": "HP:0011656", + "DORV with subaortic VSD without pulmonary stenosis": "HP:0011656", + "Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis": "HP:0011657", + "DORV with subpulmonary VSD and pulmonary stenosis": "HP:0011657", + "Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis": "HP:0011658", + "DORV with subpulmonary VSD without pulmonary stenosis": "HP:0011658", + "Taussig-Bing anomaly": "HP:0011658", + "Tetralogy of Fallot with absent pulmonary valve": "HP:0011659", + "Tetralogy of Fallot with absent pulmonary valve syndrome": "HP:0011659", + "Anomalous origin of one pulmonary artery from ascending aorta": "HP:0011660", + "Hemitruncus": "HP:0011660", + "Anomalous origin of left pulmonary artery from ascending aorta": "HP:0011661", + "Tricuspid atresia": "HP:0011662", + "Tricuspid valve atresia": "HP:0011662", + "Right ventricular cardiomyopathy": "HP:0011663", + "Cardiomyopathy, right ventricular": "HP:0011663", + "Cardiomyopathy, esp. right ventricular": "HP:0011663", + "Left ventricular noncompaction cardiomyopathy": "HP:0011664", + "Left ventricular non-compaction cardiomyopathy": "HP:0011664", + "Takotsubo cardiomyopathy": "HP:0011665", + "Broken-heart syndrome": "HP:0011665", + "Absent right superior vena cava": "HP:0011666", + "Bilateral superior vena cava with bridging vein": "HP:0011667", + "Bilateral superior vena cava with no bridging vein": "HP:0011668", + "Left superior vena cava draining directly to the left atrium": "HP:0011669", + "Left superior vena cava draining to coronary sinus": "HP:0011670", + "Interrupted inferior vena cava with azygous continuation": "HP:0011671", + "Cardiac myxoma": "HP:0011672", + "Cardiac hemangioma": "HP:0011673", + "Cardiac teratoma": "HP:0011674", + "Arrhythmia": "HP:0011675", + "Abnormal heart rate": "HP:0011675", + "Arrhythmias": "HP:0011675", + "Cardiac arrhythmia": "HP:0011675", + "Cardiac arrhythmias": "HP:0011675", + "Cardiac rhythm disturbances": "HP:0011675", + "Heart rhythm disorders": "HP:0011675", + "Irregular heart beat": "HP:0011675", + "Irregular heartbeat": "HP:0011675", + "Tetralogy of Fallot with absent subarterial conus": "HP:0011676", + "Tetralogy of Fallot with atrioventricular canal defect": "HP:0011677", + "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries": "HP:0011678", + "Tetralogy of Fallot with pulmonary stenosis": "HP:0011679", + "Single ventricle of indeterminate morphology": "HP:0011680", + "Subarterial ventricular septal defect": "HP:0011681", + "Conal ventricular septal defect": "HP:0011681", + "Doubly committed ventricular septal defect": "HP:0011681", + "Infundibular ventricular septal defect": "HP:0011681", + "Supracristal ventricular septal defect": "HP:0011681", + "Type 1 ventricular septal defect": "HP:0011681", + "Perimembranous ventricular septal defect": "HP:0011682", + "Conoventricular ventricular septal defect": "HP:0011682", + "Membranous ventricular septal defect": "HP:0011682", + "Paramembranous ventricular septal defect": "HP:0011682", + "Perimembraneous ventricular septal defect": "HP:0011682", + "Type 2 ventricular septal defect": "HP:0011682", + "Ventricular septal defect, perimembranous": "HP:0011682", + "Restrictive ventricular septal defect": "HP:0011683", + "Non-restrictive ventricular septal defect": "HP:0011684", + "Infra-aortic superior vena cava": "HP:0011685", + "Abnormal coronary artery course": "HP:0011686", + "Anomalous coronary artery course": "HP:0011686", + "AV nodal tachycardia": "HP:0011687", + "Atrioventricular nodal tachycardia": "HP:0011687", + "Supraventricular tachycardia with an accessory connection mediated pathway": "HP:0011688", + "Atrioventricular re-entry tachycardia": "HP:0011688", + "Supraventricular tachycardia with an accessory connexion mediated pathway": "HP:0011688", + "Supraventricular tachycardia with a concealed accessory connection": "HP:0011689", + "Supraventricular tachycardia with a concealed accessory connexion": "HP:0011689", + "Permanent junctional reciprocating tachycardia": "HP:0011690", + "Supraventricular tachycardia with a concealed accessory pathway on the left free wall": "HP:0011691", + "Supraventricular tachycardia with a concealed accessory pathway on the right free wall": "HP:0011692", + "Supraventricular tachycardia with a concealed accessory pathway on the septum": "HP:0011693", + "Supraventricular tachycardia with a manifest accessory pathway": "HP:0011694", + "Cerebellar hemorrhage": "HP:0011695", + "Cerebellar haemorrhage": "HP:0011695", + "Supraventricular tachycardia with a manifest accessory pathway on the left free wall": "HP:0011696", + "Supraventricular tachycardia with a manifest accessory pathway on the right free wall": "HP:0011697", + "Supraventricular tachycardia with a manifest accessory pathway on the septum": "HP:0011698", + "Atrial reentry tachycardia": "HP:0011699", + "Automatic atrial tachycardia": "HP:0011700", + "Multifocal atrial tachycardia": "HP:0011701", + "Chaotic atrial tachycardia": "HP:0011701", + "Ectopic atrial tachycardia": "HP:0011701", + "Abnormal electrophysiology of sinoatrial node origin": "HP:0011702", + "Sinus tachycardia": "HP:0011703", + "Sinus tach": "HP:0011703", + "Sinus tachy": "HP:0011703", + "Sick sinus syndrome": "HP:0011704", + "Sinoatrial node disease": "HP:0011704", + "First degree atrioventricular block": "HP:0011705", + "Second degree atrioventricular block": "HP:0011706", + "Mobitz I atrioventricular block": "HP:0011707", + "Mobitz type 1 atrioventricular block": "HP:0011707", + "Wenckebach block": "HP:0011707", + "Mobitz II atrioventricular block": "HP:0011708", + "Mobitz type 2 atrioventricular block": "HP:0011708", + "Atrioventricular dissociation": "HP:0011709", + "Bundle branch block": "HP:0011710", + "Bundle-branch block": "HP:0011710", + "Left anterior fascicular block": "HP:0011711", + "Left anterior hemiblock": "HP:0011711", + "Right bundle branch block": "HP:0011712", + "Right bundle-branch block": "HP:0011712", + "Left bundle branch block": "HP:0011713", + "Libman-Sacks lesions": "HP:0011714", + "Trifascicular block": "HP:0011715", + "Junctional ectopic tachycardia": "HP:0011716", + "Atrioventricular reentrant tachycardia": "HP:0011717", + "AV nodal reentry tachycardia": "HP:0011717", + "Abnormality of the pulmonary veins": "HP:0011718", + "Abnormality of lung veins": "HP:0011718", + "Supracardiac total anomalous pulmonary venous connection": "HP:0011719", + "Supracardiac total anomalous pulmonary venous connexion": "HP:0011719", + "Total anomalous pulmonary venous connection, supracardiac": "HP:0011719", + "Type 1 total anomalous pulmonary venous connection": "HP:0011719", + "Cardiac total anomalous pulmonary venous connection": "HP:0011720", + "Cardiac total anomalous pulmonary venous connexion": "HP:0011720", + "Total anomalous pulmonary venous connection, intracardiac": "HP:0011720", + "Type 2 total anomalous pulmonary venous connection": "HP:0011720", + "Infracardiac total anomalous pulmonary venous connection": "HP:0011721", + "Infracardiac total anomalous pulmonary venous connexion": "HP:0011721", + "Type 3 total anomalous pulmonary venous connection": "HP:0011721", + "Mixed total anomalous pulmonary venous connection": "HP:0011722", + "Mixed total anomalous pulmonary venous connexion": "HP:0011722", + "Total anomalous pulmonary venous connection, mixed": "HP:0011722", + "Type 4 total anomalous pulmonary venous connection": "HP:0011722", + "Congenital malformation of the right heart": "HP:0011723", + "Uhl's anomaly": "HP:0011724", + "Chaotic multifocal atrial tachycardia": "HP:0011725", + "Persistent fetal circulation": "HP:0011726", + "Persistent foetal circulation": "HP:0011726", + "Peroneal muscle weakness": "HP:0011727", + "Fibularis muscle weakness": "HP:0011727", + "Elbow clonus": "HP:0011728", + "Abnormality of joint mobility": "HP:0011729", + "Abnormal central sensory function": "HP:0011730", + "Abnormality of central sensory function": "HP:0011730", + "Abnormality of circulating cortisol level": "HP:0011731", + "Abnormal adrenal morphology": "HP:0011732", + "Abnormality of adrenal morphology": "HP:0011732", + "Abnormality of adrenal physiology": "HP:0011733", + "Central adrenal insufficiency": "HP:0011734", + "Secondary adrenal insufficiency": "HP:0011734", + "Adrenocorticotropin deficient adrenal insufficiency": "HP:0011735", + "ACTH deficient adrenal insufficiency": "HP:0011735", + "Primary hyperaldosteronism": "HP:0011736", + "Corticotropin-releasing hormone deficient adrenal insufficiency": "HP:0011737", + "CRH deficient adrenal insufficiency": "HP:0011737", + "Tertiary adrenal insufficiency": "HP:0011737", + "Corticotropin-releasing hormone receptor defect": "HP:0011738", + "CRHR defect": "HP:0011738", + "Corticotropin-releasing hormone receptor (CRHR) resistance": "HP:0011738", + "Dexamethasone-suppressible primary hyperaldosteronism": "HP:0011739", + "Familial primary hyperaldosteronism type 1": "HP:0011739", + "Glucocorticoid-remediable familial primary aldosteronism": "HP:0011739", + "Glucocortocoid-insensitive primary hyperaldosteronism": "HP:0011740", + "Familial primary hyperaldosteronism type 2": "HP:0011740", + "Secondary hyperaldosteronism": "HP:0011741", + "Hyperreninemic hyperaldosteronism": "HP:0011741", + "Ectopic adrenal gland": "HP:0011742", + "Abnormal adrenal gland position": "HP:0011742", + "Adrenal gland agenesis": "HP:0011743", + "Secondary hypercortisolism": "HP:0011744", + "ACTH-dependent hypercortisolemia": "HP:0011744", + "Non-secretory adrenocortical adenoma": "HP:0011745", + "Non-secretory adrenal adenoma": "HP:0011745", + "Secretory adrenocortical adenoma": "HP:0011746", + "Secretory adrenal adenoma": "HP:0011746", + "Abnormality of the anterior pituitary": "HP:0011747", + "Pituitary disease": "HP:0011747", + "Adrenocorticotropic hormone deficiency": "HP:0011748", + "ACTH deficiency": "HP:0011748", + "Corticotropin deficiency": "HP:0011748", + "Adrenocorticotropic hormone excess": "HP:0011749", + "ACTH excess": "HP:0011749", + "Neoplasm of the anterior pituitary": "HP:0011750", + "Neoplasm of the adenohypophysis": "HP:0011750", + "Neoplasm of the pars anterior": "HP:0011750", + "Abnormal posterior pituitary morphogenesis": "HP:0011751", + "Abnormality of the neurohypophysis": "HP:0011751", + "Abnormality of the posterior pituitary": "HP:0011751", + "Neoplasm of the posterior pituitary": "HP:0011752", + "Neoplasm of the neurohypophysis": "HP:0011752", + "Posterior pituitary dysgenesis": "HP:0011753", + "Neurohypophysis dysplasia": "HP:0011753", + "Posterior pituitary dysplasia": "HP:0011753", + "Pituicytoma": "HP:0011754", + "Ectopic posterior pituitary": "HP:0011755", + "Ectopic neurohypophysis": "HP:0011755", + "Ectopic posterior pituitary lobe": "HP:0011755", + "Posterior pituitary agenesis": "HP:0011756", + "Neurohypophysis agenesis": "HP:0011756", + "Posterior pituitary hypoplasia": "HP:0011757", + "Neurohypophysis hypoplasia": "HP:0011757", + "Pituitary acidophilic stem cell adenoma": "HP:0011758", + "Pituitary gonadotropic cell adenoma": "HP:0011759", + "Pituitary gonadotropinoma": "HP:0011759", + "Pituitary growth hormone cell adenoma": "HP:0011760", + "Pituitary somatotropinoma": "HP:0011760", + "Pituitary null cell adenoma": "HP:0011761", + "Clinically silent pituitary adenoma": "HP:0011761", + "Hormonally silent pituitary adenoma": "HP:0011761", + "Non-functional pituitary adenoma": "HP:0011761", + "Silent pituitary adenoma": "HP:0011761", + "Pituitary thyrotropic cell adenoma": "HP:0011762", + "Pituitary thyrotropinoma": "HP:0011762", + "Pituitary carcinoma": "HP:0011763", + "Pituitary spindle cell oncocytoma": "HP:0011764", + "obsolete Ectopic anterior pituitary": "HP:0011765", + "Abnormal parathyroid morphology": "HP:0011766", + "Abnormality of the parathyroid morphology": "HP:0011766", + "Abnormality of the parathyroid physiology": "HP:0011767", + "Parathyroid issue": "HP:0011767", + "Parathyroid dysfunction": "HP:0011767", + "Parathyroid dysgenesis": "HP:0011768", + "Ectopic parathyroid": "HP:0011769", + "Tertiary hyperparathyroidism": "HP:0011770", + "Autoimmune hypoparathyroidism": "HP:0011771", + "Abnormal thyroid morphology": "HP:0011772", + "Abnormal shape of thyroid gland": "HP:0011772", + "Abnormality of thyroid morphology": "HP:0011772", + "Uninodular goiter": "HP:0011773", + "Uninodular goitre": "HP:0011773", + "Thyroid follicular adenoma": "HP:0011774", + "Thyroid macrofollicular adenoma": "HP:0011775", + "Thyroid microfollicular adenoma": "HP:0011776", + "Thyroid papillary adenoma": "HP:0011777", + "Thyroid atypical adenoma": "HP:0011778", + "Anaplastic thyroid carcinoma": "HP:0011779", + "Thyroid hemiagenesis": "HP:0011780", + "Thyroid C cell hyperplasia": "HP:0011781", + "Thyroid crisis": "HP:0011782", + "Thyrotoxicosis from ectopic thyroid tissue": "HP:0011783", + "Thyrotoxicosis with diffuse goiter": "HP:0011784", + "Thyrotoxicosis with toxic multinodular goiter": "HP:0011785", + "Thyrotoxicosis with toxic multinodular goitre": "HP:0011785", + "Thyrotoxicosis with toxic single thyroid nodule": "HP:0011786", + "Central hypothyroidism": "HP:0011787", + "Increased circulating free T3": "HP:0011788", + "Increased circulating free triiodothyronine": "HP:0011788", + "Increased serum fT3": "HP:0011788", + "Increased serum free T3": "HP:0011788", + "Increased serum free triiodothyronine": "HP:0011788", + "Impaired sensitivity to thyroid stimulating hormone": "HP:0011789", + "TSHR defect": "HP:0011789", + "Thyroid-stimulating hormone receptor defect": "HP:0011789", + "Activating thyroid-stimulating hormone receptor defect": "HP:0011790", + "Activating TSHR defect": "HP:0011790", + "Inactivating thyroid-stimulating hormone receptor defect": "HP:0011791", + "Inactivating TSHR defect": "HP:0011791", + "Neoplasm by histology": "HP:0011792", + "Neoplasm by anatomical site": "HP:0011793", + "Embryonal renal neoplasm": "HP:0011794", + "Intralobar nephroblastomatosis": "HP:0011795", + "Perilobar nephroblastomatosis": "HP:0011796", + "Papillary renal cell carcinoma type 1": "HP:0011797", + "Renal oncocytoma": "HP:0011798", + "Abnormality of facial soft tissue": "HP:0011799", + "Anomaly of facial soft tissue": "HP:0011799", + "Deformity of facial soft tissue": "HP:0011799", + "Malformation of facial soft tissue": "HP:0011799", + "Midface retrusion": "HP:0011800", + "Small midface": "HP:0011800", + "Decreased size of midface": "HP:0011800", + "Flat midface": "HP:0011800", + "Hypoplasia of midface": "HP:0011800", + "Midface deficiency": "HP:0011800", + "Midface hypoplasia": "HP:0011800", + "Midface, flat": "HP:0011800", + "Retrusive midface": "HP:0011800", + "Underdevelopment of midface": "HP:0011800", + "Decreased projection of midface": "HP:0011800", + "Hypotrophic midface": "HP:0011800", + "Enlargement of parotid gland": "HP:0011801", + "Hyperplasia of parotid gland": "HP:0011801", + "Increased size of parotid gland": "HP:0011801", + "Hypertrophy of parotid gland": "HP:0011801", + "Hamartoma of tongue": "HP:0011802", + "Lingual hamartoma": "HP:0011802", + "Bifid nose": "HP:0011803", + "Bifid nasal bridge": "HP:0011803", + "Indentation or clefting of the nose": "HP:0011803", + "Cleft nasal bridge": "HP:0011803", + "Cleft nose": "HP:0011803", + "Indented bridge of nose": "HP:0011803", + "Abnormal muscle physiology": "HP:0011804", + "Abnormality of muscle physiology": "HP:0011804", + "Issue with muscle function": "HP:0011804", + "Abnormal skeletal muscle morphology": "HP:0011805", + "Abnormal muscle morphology": "HP:0011805", + "Abnormality of muscle morphology": "HP:0011805", + "Abnormally shaped muscle": "HP:0011805", + "Issue with muscle structure": "HP:0011805", + "Type 1 muscle fiber atrophy": "HP:0011807", + "Type 1 muscle fibre atrophy": "HP:0011807", + "Decreased patellar reflex": "HP:0011808", + "Decreased knee jerk reflex": "HP:0011808", + "Decreased patellar reflexes": "HP:0011808", + "Paradoxical myotonia": "HP:0011809", + "Impaired two-point discrimination": "HP:0011810", + "Impaired touch localization": "HP:0011811", + "Impaired topognosis": "HP:0011811", + "Impaired touch localisation": "HP:0011811", + "Agraphesthesia": "HP:0011812", + "Increased cerebral lipofuscin": "HP:0011813", + "Increased urinary hypoxanthine level": "HP:0011814", + "Cephalocele": "HP:0011815", + "Parietal encephalocele": "HP:0011816", + "Basal encephalocele": "HP:0011817", + "Nasofrontal encephalocele": "HP:0011818", + "Naso-frontal encephalocele": "HP:0011818", + "Submucous cleft soft palate": "HP:0011819", + "Partial thickness cleft soft palate": "HP:0011819", + "Submucous cleft velum": "HP:0011819", + "Membranous choanal atresia": "HP:0011820", + "Abnormal facial skeleton morphology": "HP:0011821", + "Abnormality of facial skeleton": "HP:0011821", + "Anomaly of facial skeleton": "HP:0011821", + "Abnormality of facial bones": "HP:0011821", + "Anomaly of facial bones": "HP:0011821", + "Deformity of facial skeleton": "HP:0011821", + "Deformity of the facial bones": "HP:0011821", + "Malformation of facial bones": "HP:0011821", + "Malformation of facial skeleton": "HP:0011821", + "Broad chin": "HP:0011822", + "Increased width of chin": "HP:0011822", + "Increased width of menton region": "HP:0011822", + "Wide chin": "HP:0011822", + "Chin with horizontal crease": "HP:0011823", + "Chin with horizontal furrow": "HP:0011823", + "Chin with horizontal groove": "HP:0011823", + "Chin with horizontal sulcus": "HP:0011823", + "Horizontal chin skin cleft": "HP:0011823", + "Horizontal menton crease": "HP:0011823", + "Chin with H-shaped crease": "HP:0011824", + "Chin, H-Shaped Crease": "HP:0011824", + "Chin, H-shaped groove": "HP:0011824", + "H-shaped dimple of the chin": "HP:0011824", + "Tented philtrum": "HP:0011825", + "Philtrum, Tented": "HP:0011825", + "Philtrum with midline raphe": "HP:0011826", + "Philtrum with central raphe": "HP:0011826", + "Philtrum with midline ridge": "HP:0011826", + "Philtrum, midline raphe": "HP:0011826", + "Malaligned philtral ridges": "HP:0011827", + "Asymmetric philtral columns": "HP:0011827", + "Asymmetric philtral ridges": "HP:0011827", + "Malaligned philtral columns": "HP:0011827", + "Philtral Ridges, Malaligned": "HP:0011827", + "Midline sinus of philtrum": "HP:0011828", + "Central sinus of philtrum": "HP:0011828", + "Philtrum, Midline Sinus": "HP:0011828", + "Narrow philtrum": "HP:0011829", + "Decreased breadth of philtrum": "HP:0011829", + "Decreased horizontal dimension of philtrum": "HP:0011829", + "Decreased transverse dimension of philtrum": "HP:0011829", + "Decreased width of philtrum": "HP:0011829", + "Philtrum, Narrow": "HP:0011829", + "Thin philtrum": "HP:0011829", + "Abnormal oral mucosa morphology": "HP:0011830", + "Abnormality of lining of mouth": "HP:0011830", + "Abnormality of mucosa of mouth": "HP:0011830", + "Abnormality of oral mucosa": "HP:0011830", + "Abnormality of oral mucous membrane": "HP:0011830", + "Deviated nasal tip": "HP:0011831", + "Asymmetry of nasal tip": "HP:0011831", + "Asymmetry of tip of nose": "HP:0011831", + "Crooked nasal tip": "HP:0011831", + "Crooked tip of nose": "HP:0011831", + "Deviated tip of nose": "HP:0011831", + "Nasal tip, deviated": "HP:0011831", + "Distortion of the nasal tip": "HP:0011831", + "Narrow nasal tip": "HP:0011832", + "Narrow tip of nose": "HP:0011832", + "Nasal tip, narrow": "HP:0011832", + "Nasal tip, pinched": "HP:0011832", + "Pinched nasal tip": "HP:0011832", + "Pinched tip of nose": "HP:0011832", + "Thin nasal tip": "HP:0011832", + "Thin tip of nose": "HP:0011832", + "Overhanging nasal tip": "HP:0011833", + "Drooping nasal tip": "HP:0011833", + "Hooked tip of nose": "HP:0011833", + "Low hanging nasal tip": "HP:0011833", + "Nasal tip, overhanging": "HP:0011833", + "Moyamoya phenomenon": "HP:0011834", + "Absent scaphoid": "HP:0011835", + "Missing scaphoid bone": "HP:0011835", + "Absent scaphoid bone": "HP:0011835", + "Delayed talus ossification": "HP:0011836", + "Partial IgA deficiency": "HP:0011837", + "Sclerodactyly": "HP:0011838", + "Abnormal T cell count": "HP:0011839", + "Abnormal number of T cells": "HP:0011839", + "Abnormality of T cell number": "HP:0011839", + "Abnormality of T cell physiology": "HP:0011840", + "Ventricular flutter": "HP:0011841", + "Abnormal skeletal morphology": "HP:0011842", + "Abnormality of skeletal morphology": "HP:0011842", + "Abnormally shaped skeletal": "HP:0011842", + "Abnormal musculoskeletal physiology": "HP:0011843", + "Abnormality of musculoskeletal physiology": "HP:0011843", + "Abnormal appendicular skeleton morphology": "HP:0011844", + "Short second metatarsal": "HP:0011845", + "Short 2nd long bone of foot": "HP:0011845", + "Osteoblastoma": "HP:0011846", + "Giant cell tumor of bone": "HP:0011847", + "Giant cell tumour of bone": "HP:0011847", + "Abdominal colic": "HP:0011848", + "Abnormal bone ossification": "HP:0011849", + "Abnormal bone maturation": "HP:0011849", + "Parotitis": "HP:0011850", + "Hemopericardium": "HP:0011851", + "Chylopericardium": "HP:0011852", + "Serous pericardial effusion": "HP:0011853", + "Hemoperitoneum": "HP:0011854", + "Hematoperitoneum": "HP:0011854", + "Pharyngeal edema": "HP:0011855", + "Pharyngeal oedema": "HP:0011855", + "Swollen throat": "HP:0011855", + "Throat swelling": "HP:0011855", + "Pica": "HP:0011856", + "Plasmacytoma": "HP:0011857", + "Reduced factor IX activity": "HP:0011858", + "Low factor IX activity": "HP:0011858", + "Punctate keratitis": "HP:0011859", + "Metaphyseal dappling": "HP:0011860", + "Dappled metaphyseal sclerosis": "HP:0011860", + "Bilateral trilobed lung": "HP:0011861", + "Bilateral trilobed lungs": "HP:0011861", + "Abnormal bone collagen fibril morphology": "HP:0011862", + "Abnormal sternal ossification": "HP:0011863", + "Abnormal maturation of breastbone": "HP:0011863", + "Sternal ossification center abnormalities": "HP:0011863", + "Sternal ossification centre abnormalities": "HP:0011863", + "Elevated plasma pyrophosphate": "HP:0011864", + "Abnormal iliac wing morphology": "HP:0011867", + "Abnormality of the wing of the ilium": "HP:0011867", + "Sciatica": "HP:0011868", + "Abnormal platelet function": "HP:0011869", + "Impaired arachidonic acid-induced platelet aggregation": "HP:0011870", + "Impaired ristocetin-induced platelet aggregation": "HP:0011871", + "Impaired thrombin-induced platelet aggregation": "HP:0011872", + "Abnormal platelet count": "HP:0011873", + "Heparin-induced thrombocytopenia": "HP:0011874", + "Abnormal platelet morphology": "HP:0011875", + "Abnormal shape of platelets": "HP:0011875", + "Abnormal platelet volume": "HP:0011876", + "Increased mean platelet volume": "HP:0011877", + "Large platelets": "HP:0011877", + "Abnormal platelet membrane protein expression": "HP:0011878", + "Decreased platelet glycoprotein Ib-IX-V": "HP:0011879", + "Acute disseminated intravascular coagulation": "HP:0011880", + "Decreased platelet glycoprotein VI": "HP:0011881", + "Decreased platelet P2Y12 receptor": "HP:0011882", + "Abnormal platelet granules": "HP:0011883", + "Abnormal umbilical stump bleeding": "HP:0011884", + "Hemorrhage of the eye": "HP:0011885", + "Bleeding from the eye": "HP:0011885", + "Haemorrhage of the eye": "HP:0011885", + "Hyphema": "HP:0011886", + "Choroid hemorrhage": "HP:0011887", + "Choroid haemorrhage": "HP:0011887", + "Choroidal haemorrhage": "HP:0011887", + "Choroidal hemorrhage": "HP:0011887", + "Bleeding requiring red cell transfusion": "HP:0011888", + "Bleeding with minor or no trauma": "HP:0011889", + "Easy bleeding": "HP:0011889", + "Prolonged bleeding following procedure": "HP:0011890", + "Post-partum hemorrhage": "HP:0011891", + "Bleeding post-delivery": "HP:0011891", + "Decreased circulating vitamin K concentration": "HP:0011892", + "Low levels of vitamin K": "HP:0011892", + "Abnormal leukocyte count": "HP:0011893", + "Abnormal white blood cell count": "HP:0011893", + "Impaired thromboxane A2 agonist-induced platelet aggregation": "HP:0011894", + "Anemia due to reduced life span of red cells": "HP:0011895", + "Anaemia due to reduced life span of red cells": "HP:0011895", + "Subconjunctival hemorrhage": "HP:0011896", + "Subconjunctival haemorrhage": "HP:0011896", + "Neutrophilia": "HP:0011897", + "Increased blood neutrophil counts": "HP:0011897", + "Abnormality of circulating fibrinogen": "HP:0011898", + "Hyperfibrinogenemia": "HP:0011899", + "Hypofibrinogenemia": "HP:0011900", + "Low fibrinogen activity": "HP:0011900", + "Low fibrinogen level": "HP:0011900", + "Dysfibrinogenemia": "HP:0011901", + "Dysfibrinogenaemia": "HP:0011901", + "Abnormal hemoglobin": "HP:0011902", + "Abnormal Hb": "HP:0011902", + "Abnormal haemoglobin": "HP:0011902", + "HbH hemoglobin": "HP:0011903", + "Haemoglobin H": "HP:0011903", + "HbH haemoglobin": "HP:0011903", + "Hemoglobin H": "HP:0011903", + "Persistence of hemoglobin F": "HP:0011904", + "Increased haemoglobin F": "HP:0011904", + "Increased hemoglobin F": "HP:0011904", + "Persistence of HbF": "HP:0011904", + "Persistence of haemoglobin F": "HP:0011904", + "Reduced hemoglobin A": "HP:0011905", + "Reduced HbA": "HP:0011905", + "Reduced haemoglobin A": "HP:0011905", + "Reduced beta/alpha synthesis ratio": "HP:0011906", + "Reduced alpha/beta synthesis ratio": "HP:0011907", + "Unilateral radial aplasia": "HP:0011908", + "Flattened metacarpal heads": "HP:0011909", + "Flattened head of long bone of hand": "HP:0011909", + "Shortening of all phalanges of fingers": "HP:0011910", + "Shortening of all finger bones": "HP:0011910", + "Abnormal metacarpophalangeal joint morphology": "HP:0011911", + "Abnormality of metacarpophalangeal joint": "HP:0011911", + "Abnormality of the knuckle": "HP:0011911", + "Abnormality of the glenoid fossa": "HP:0011912", + "Lumbar hypertrichosis": "HP:0011913", + "Thoracic hypertrichosis": "HP:0011914", + "Cardiovascular calcification": "HP:0011915", + "Toe extensor amyotrophy": "HP:0011916", + "Short 5th toe": "HP:0011917", + "Short fifth toe": "HP:0011917", + "Short little toe": "HP:0011917", + "Short pinkie toe": "HP:0011917", + "Short pinky toe": "HP:0011917", + "Clinodactyly of the 4th toe": "HP:0011918", + "Curvature of 4th toe": "HP:0011918", + "4th toe clinodactyly": "HP:0011918", + "Pleural empyema": "HP:0011919", + "Pyothorax": "HP:0011919", + "Transudative pleural effusion": "HP:0011920", + "Exudative pleural effusion": "HP:0011921", + "Abnormal activity of mitochondrial respiratory chain": "HP:0011922", + "Decreased activity of mitochondrial complex I": "HP:0011923", + "Respiratory complex I deficiency": "HP:0011923", + "Decreased activity of mitochondrial complex III": "HP:0011924", + "Respiratory complex III deficiency": "HP:0011924", + "Decreased activity of mitochondrial ATP synthase complex": "HP:0011925", + "Decreased activity of mitochondrial complex V": "HP:0011925", + "Mitochondrial complex V deficiency": "HP:0011925", + "Respiratory complex deficiency, ATPase deficiency": "HP:0011925", + "Proximal placement of hallux": "HP:0011926", + "Proximal placement of big toe": "HP:0011926", + "Proximally placed halluces": "HP:0011926", + "Short digit": "HP:0011927", + "Very short digits": "HP:0011927", + "Short proximal phalanx of toe": "HP:0011928", + "Short innermost toe bone": "HP:0011928", + "Hypersegmentation of proximal phalanx of third finger": "HP:0011929", + "Hyperextensible skin of chest": "HP:0011930", + "Hyperelastic chest skin": "HP:0011930", + "Stretchable chest skin": "HP:0011930", + "Abnormal cerebellar peduncle morphology": "HP:0011931", + "Abnormality of the cerebellar peduncle": "HP:0011931", + "Abnormal superior cerebellar peduncle morphology": "HP:0011932", + "Abnormality of the superior cerebellar peduncle": "HP:0011932", + "Elongated superior cerebellar peduncle": "HP:0011933", + "Long cerebellar peduncle": "HP:0011933", + "Long cerebellar peduncles": "HP:0011933", + "Elongated superior cerebellar peduncles": "HP:0011933", + "Dilatation of mesenteric artery": "HP:0011934", + "Mesenteric artery aneurysm": "HP:0011934", + "Decreased urinary urate": "HP:0011935", + "Decreased plasma total carnitine": "HP:0011936", + "Hypoplastic fifth toenail": "HP:0011937", + "Small fifth toenail": "HP:0011937", + "Underdeveloped fifth toenail": "HP:0011937", + "3-4 finger cutaneous syndactyly": "HP:0011939", + "Anterior wedging of T12": "HP:0011940", + "Anterior wedging of the 12th thoracic vertebra": "HP:0011940", + "Wedge-shaped 12th thoracic vertebra": "HP:0011940", + "Anterior wedging of L2": "HP:0011941", + "Increased urinary sulfite level": "HP:0011942", + "Increased urinary thiosulfate": "HP:0011943", + "Small vessel vasculitis": "HP:0011944", + "Bronchiolitis obliterans organizing pneumonia": "HP:0011945", + "BOOP": "HP:0011945", + "Bronchiolitis obliterans organising pneumonia": "HP:0011945", + "Cryptogenic organising pneumonia": "HP:0011945", + "Cryptogenic organizing pneumonia": "HP:0011945", + "Bronchiolitis obliterans": "HP:0011946", + "Constrictive bronchiolitis": "HP:0011946", + "Obliterative bronchiolitis": "HP:0011946", + "Respiratory tract infection": "HP:0011947", + "Respiratory infection": "HP:0011947", + "Respiratory infections": "HP:0011947", + "Recurrent acute respiratory tract infection": "HP:0011948", + "Acute respiratory tract infection": "HP:0011948", + "Acute infectious pneumonia": "HP:0011949", + "Bronchiolitis": "HP:0011950", + "Aspiration pneumonia": "HP:0011951", + "Acute aspiration pneumonia": "HP:0011952", + "Pulmonary lymphoma": "HP:0011953", + "Nodular regenerative hyperplasia of liver": "HP:0011954", + "Nodular transformation of liver": "HP:0011954", + "Noncirrhotic nodulation": "HP:0011954", + "Partial nodular transformation of liver": "HP:0011954", + "Hepatic granulomatosis": "HP:0011955", + "Intestinal lymphoid nodular hyperplasia": "HP:0011956", + "Abnormal pectoral muscle morphology": "HP:0011957", + "Abnormal pec muscles": "HP:0011957", + "Retinal perforation": "HP:0011958", + "Retinal tear": "HP:0011958", + "Torn retina": "HP:0011958", + "Unilateral hypoplasia of pectoralis major muscle": "HP:0011959", + "Small pec muscle on one side": "HP:0011959", + "Underdeveloped pec muscle on one side": "HP:0011959", + "Substantia nigra gliosis": "HP:0011960", + "Non-obstructive azoospermia": "HP:0011961", + "Testicular azoospermia": "HP:0011961", + "Obstructive azoospermia": "HP:0011962", + "Pretesticular azoospermia": "HP:0011963", + "Intermittent painful muscle spasms": "HP:0011964", + "Abnormal circulating citrulline concentration": "HP:0011965", + "Elevated plasma citrulline": "HP:0011966", + "Decreased circulating copper concentration": "HP:0011967", + "Copper deficiency": "HP:0011967", + "Hypocupremia": "HP:0011967", + "Reduced serum copper": "HP:0011967", + "Feeding difficulties": "HP:0011968", + "Feeding problems": "HP:0011968", + "Poor feeding": "HP:0011968", + "Elevated circulating luteinizing hormone level": "HP:0011969", + "Elevated LH level": "HP:0011969", + "Elevated luteinizing hormone": "HP:0011969", + "Increased circulating luteinizing hormone level": "HP:0011969", + "Cerebral amyloid angiopathy": "HP:0011970", + "Dermatographic urticaria": "HP:0011971", + "Dermatographism": "HP:0011971", + "Dermographism": "HP:0011971", + "Skin writing": "HP:0011971", + "Hypoglycorrhachia": "HP:0011972", + "Decreased CSF glucose": "HP:0011972", + "Low glucose levels in cerebral spinal fluid": "HP:0011972", + "Paroxysmal lethargy": "HP:0011973", + "Intermittent lack of energy": "HP:0011973", + "Myelofibrosis": "HP:0011974", + "Aminoglycoside-induced hearing loss": "HP:0011975", + "Elevated urinary catecholamine level": "HP:0011976", + "Elevated urinary catecholamines": "HP:0011976", + "Elevated urinary homovanillic acid": "HP:0011977", + "Increased urinary homovanillic acid": "HP:0011977", + "Elevated urinary vanillylmandelic acid": "HP:0011978", + "Increased urinary vanillylmandelic acid": "HP:0011978", + "Elevated urinary dopamine level": "HP:0011979", + "Elevated urinary dopamine": "HP:0011979", + "Cholesterol gallstones": "HP:0011980", + "Pigment gallstones": "HP:0011981", + "Black pigment gallstones": "HP:0011982", + "Brown pigment gallstones": "HP:0011983", + "Atretic gallbladder": "HP:0011984", + "Gallbladder atresia": "HP:0011984", + "Acholic stools": "HP:0011985", + "Acholia": "HP:0011985", + "Clay colored stools": "HP:0011985", + "Clay coloured stools": "HP:0011985", + "Discolored, acholic stools": "HP:0011985", + "Ectopic ossification": "HP:0011986", + "Ectopic bone formation": "HP:0011986", + "Heterotopic ossification": "HP:0011986", + "Ectopic ossification in muscle tissue": "HP:0011987", + "Calcification of muscle tissue": "HP:0011987", + "Ectopic ossification in tendon tissue": "HP:0011988", + "Ectopic ossification in ligament tissue": "HP:0011989", + "Abnormality of neutrophil physiology": "HP:0011990", + "Abnormal neutrophil count": "HP:0011991", + "Abnormal neutrophil cell number": "HP:0011991", + "Abnormal neutrophil morphology": "HP:0011992", + "Abnormality of neutrophil morphology": "HP:0011992", + "Impaired neutrophil bactericidal activity": "HP:0011993", + "Abnormal atrial septum morphology": "HP:0011994", + "Abnormal interatrial septum morphology": "HP:0011994", + "Abnormality of the atrial septum": "HP:0011994", + "Atrial septal dilatation": "HP:0011995", + "Atrial septal aneurysm": "HP:0011995", + "Elevated coagulation factor V activity": "HP:0011996", + "Elevated factor V activity": "HP:0011996", + "Plasma factor V elevated": "HP:0011996", + "Postprandial hyperlactemia": "HP:0011997", + "Postprandial hyperglycemia": "HP:0011998", + "Paranoia": "HP:0011999", + "EEG with generalized spikes": "HP:0012000", + "EEG with generalised spikes": "HP:0012000", + "EEG with generalized polyspikes": "HP:0012001", + "EEG with generalised polyspikes": "HP:0012001", + "Experiential epileptic aura": "HP:0012002", + "Experiential aura": "HP:0012002", + "Experiential auras": "HP:0012002", + "Affective epileptic aura": "HP:0012003", + "Affective aura": "HP:0012003", + "Affective auras": "HP:0012003", + "Emotional aura": "HP:0012003", + "Focal cognitive seizure with deja vu/jamais vu": "HP:0012004", + "Mnemonic aura": "HP:0012004", + "Mnemonic auras": "HP:0012004", + "Deja vu aura": "HP:0012005", + "Deja vu": "HP:0012005", + "Jamais vu aura": "HP:0012006", + "Jamais vu": "HP:0012006", + "Focal cognitive seizure with hallucination": "HP:0012007", + "Hallucinatory aura": "HP:0012007", + "Hallucinatory auras": "HP:0012007", + "Focal cognitive seizure with illusion": "HP:0012008", + "Illusory aura": "HP:0012008", + "Illusory auras": "HP:0012008", + "EEG with central focal spike waves": "HP:0012009", + "EEG with frontal focal spike waves": "HP:0012010", + "EEG with occipital focal spike waves": "HP:0012011", + "EEG with parietal focal spike waves": "HP:0012012", + "EEG with temporal focal spike waves": "HP:0012013", + "EEG with central focal spikes": "HP:0012014", + "EEG with frontal focal spikes": "HP:0012015", + "EEG with occipital focal spikes": "HP:0012016", + "EEG with parietal focal spikes": "HP:0012017", + "EEG with temporal focal spikes": "HP:0012018", + "Lens luxation": "HP:0012019", + "Completely dislocated lens": "HP:0012019", + "Completely dislocated lenses": "HP:0012019", + "Right aortic arch": "HP:0012020", + "Right-sided aortic arch": "HP:0012020", + "Persistent patent ductus venosus": "HP:0012021", + "Congenital portosystemic venous shunt": "HP:0012022", + "Galactosuria": "HP:0012023", + "Increased urinary galactose level": "HP:0012023", + "Hypergalactosemia": "HP:0012024", + "Galactosemia": "HP:0012024", + "Abnormal circulating ornithine concentration": "HP:0012025", + "Hyperornithinemia": "HP:0012026", + "High blood ornithine levels": "HP:0012026", + "Laryngeal edema": "HP:0012027", + "Laryngeal oedema": "HP:0012027", + "Hepatocellular adenoma": "HP:0012028", + "Hepatic adenoma": "HP:0012028", + "Liver cell adenoma": "HP:0012028", + "Abnormal urine hormone level": "HP:0012029", + "Abnormality of urine hormone level": "HP:0012029", + "Increased urinary cortisol level": "HP:0012030", + "High urine cortisol level": "HP:0012030", + "Lipomatous tumor": "HP:0012031", + "Lipomatous tumour": "HP:0012031", + "Lipoma": "HP:0012032", + "Fatty lump": "HP:0012032", + "Noncancerous fatty lump": "HP:0012032", + "Sacral lipoma": "HP:0012033", + "Liposarcoma": "HP:0012034", + "Steatocystoma multiplex": "HP:0012035", + "Sternocleidomastoid amyotrophy": "HP:0012036", + "Pectoralis amyotrophy": "HP:0012037", + "Wasting of pec muscles": "HP:0012037", + "Corneal guttata": "HP:0012038", + "Corneal endothelial guttata": "HP:0012038", + "Corneal guttae": "HP:0012038", + "Descemet Membrane Folds": "HP:0012039", + "Corneal stromal edema": "HP:0012040", + "Corneal stromal oedema": "HP:0012040", + "Decreased fertility in males": "HP:0012041", + "Aspirin-induced asthma": "HP:0012042", + "Pendular nystagmus": "HP:0012043", + "Nystagmus, continuous pendular": "HP:0012043", + "Nystagmus, pendular": "HP:0012043", + "Seesaw nystagmus": "HP:0012044", + "Retinal flecks": "HP:0012045", + "Areflexia of upper limbs": "HP:0012046", + "Hemeralopia": "HP:0012047", + "Day blindness": "HP:0012047", + "Oromandibular dystonia": "HP:0012048", + "Cranial dystonia": "HP:0012048", + "Laryngeal dystonia": "HP:0012049", + "Spasmodic dysphonia": "HP:0012049", + "Anasarca": "HP:0012050", + "Extreme generalised oedema": "HP:0012050", + "Extreme generalized edema": "HP:0012050", + "Reactive hypoglycemia": "HP:0012051", + "Low blood sugar after a meal": "HP:0012051", + "Postprandial hypoglycemia": "HP:0012051", + "Low serum calcitriol": "HP:0012052", + "Low serum 1,25-dihydroxycholecalciferol": "HP:0012052", + "Low serum 1,25-dihydroxyvitamin D3": "HP:0012052", + "Decreased circulating calcifediol concentration": "HP:0012053", + "Decreased 25-hydroxyvitamin D3": "HP:0012053", + "Low serum 25-hydroxycholecalciferol": "HP:0012053", + "Low serum calcidiol": "HP:0012053", + "Low serum calcifediol": "HP:0012053", + "Choroidal melanoma": "HP:0012054", + "Ciliary body melanoma": "HP:0012055", + "Cutaneous melanoma": "HP:0012056", + "Superficial spreading melanoma": "HP:0012057", + "Nodular melanoma": "HP:0012058", + "Lentigo maligna melanoma": "HP:0012059", + "Acral lentiginous melanoma": "HP:0012060", + "Urinary excretion of sialylated oligosaccharides": "HP:0012061", + "Increased urinary sialyloligosaccharides": "HP:0012061", + "Bone cyst": "HP:0012062", + "Bone cysts": "HP:0012062", + "Aneurysmal bone cyst": "HP:0012063", + "Unicameral bone cyst": "HP:0012064", + "Multiple bony cystic lesions": "HP:0012065", + "Increased urinary disaccharide excretion": "HP:0012066", + "Glycopeptiduria": "HP:0012067", + "High urine glycopeptide levels": "HP:0012067", + "Aspartylglucosaminuria": "HP:0012068", + "High urine aspartylglucosamine levels": "HP:0012068", + "Keratan sulfate excretion in urine": "HP:0012069", + "Keratan sulphate excretion in urine": "HP:0012069", + "Chondroitin sulfate excretion in urine": "HP:0012070", + "Chondroitin sulphate excretion in urine": "HP:0012070", + "Abnormal circulating acylcarnitine concentration": "HP:0012071", + "Abnormal circulating esterified carnitine concentration": "HP:0012071", + "Abnormal acetylcarnitine profile": "HP:0012071", + "Aciduria": "HP:0012072", + "Acidic urine": "HP:0012072", + "Abnormal urinary acylglycine profile": "HP:0012073", + "Tonic pupil": "HP:0012074", + "Adie pupil": "HP:0012074", + "Adie's tonic pupil": "HP:0012074", + "Personality disorder": "HP:0012075", + "Borderline personality disorder": "HP:0012076", + "BPD": "HP:0012076", + "EUPD": "HP:0012076", + "Emotionally unstable personality disorder": "HP:0012076", + "Histrionic personality disorder": "HP:0012077", + "Motor conduction block": "HP:0012078", + "Abnormality of central motor conduction": "HP:0012079", + "Cerebellar granular layer atrophy": "HP:0012080", + "Enlarged cerebellum": "HP:0012081", + "Cerebellar Purkinje layer atrophy": "HP:0012082", + "Ubiquitin-positive cerebral inclusion bodies": "HP:0012083", + "Abnormality of skeletal muscle fiber size": "HP:0012084", + "Abnormality of skeletal muscle fibre size": "HP:0012084", + "Pyuria": "HP:0012085", + "High urine neutrophil count": "HP:0012085", + "Leukocyturia": "HP:0012085", + "Abnormal urinary color": "HP:0012086", + "Abnormal urine color": "HP:0012086", + "Abnormal urine colour": "HP:0012086", + "Abnormal mitochondrial shape": "HP:0012087", + "Abnormal urinary odor": "HP:0012088", + "Abnormal urine smell": "HP:0012088", + "Arteritis": "HP:0012089", + "Inflammation of artery": "HP:0012089", + "Abnormal pancreas morphology": "HP:0012090", + "Abnormality of pancreas morphology": "HP:0012090", + "Abnormally shaped pancreas": "HP:0012090", + "Abnormality of pancreas physiology": "HP:0012091", + "Abnormality of exocrine pancreas physiology": "HP:0012092", + "Abnormal exocrine pancreatic function": "HP:0012092", + "Abnormality of endocrine pancreas physiology": "HP:0012093", + "Abnormal pancreas size": "HP:0012094", + "Multiple joint dislocation": "HP:0012095", + "Multiple joint dislocations": "HP:0012095", + "Intracranial epidermoid cyst": "HP:0012096", + "Intracranial dermoid cyst": "HP:0012097", + "Edema of the dorsum of feet": "HP:0012098", + "Edema of dorsum of feet": "HP:0012098", + "Oedema of dorsum of feet": "HP:0012098", + "Oedema of the dorsum of feet": "HP:0012098", + "Abnormality of circulating catecholamine level": "HP:0012099", + "Catecholamine levels abnormal": "HP:0012099", + "Abnormal circulating creatinine concentration": "HP:0012100", + "Abnormal blood creatinine level": "HP:0012100", + "Abnormal circulating creatinine level": "HP:0012100", + "Creatinine levels abnormal": "HP:0012100", + "Decreased serum creatinine": "HP:0012101", + "Low blood creatinine level": "HP:0012101", + "Reduced creatinine levels": "HP:0012101", + "Abnormal mitochondrial number": "HP:0012102", + "Abnormality of the mitochondrion": "HP:0012103", + "Mitochondrial abnormalities": "HP:0012103", + "Parietal cortical atrophy": "HP:0012104", + "Occipital cortical atrophy": "HP:0012105", + "Rhizomelic leg shortening": "HP:0012106", + "Increased fibular diameter": "HP:0012107", + "Thick fibula": "HP:0012107", + "Thick fibulae": "HP:0012107", + "Wide calf bone": "HP:0012107", + "Wide fibula": "HP:0012107", + "Open angle glaucoma": "HP:0012108", + "Primary open angle glaucoma": "HP:0012108", + "Angle closure glaucoma": "HP:0012109", + "Closed-angle glaucoma": "HP:0012109", + "Narrow angle glaucoma": "HP:0012109", + "Primary angle closure glaucoma": "HP:0012109", + "Hypoplasia of the pons": "HP:0012110", + "Pontine hypoplasia": "HP:0012110", + "Abnormality of circulating glucocorticoid level": "HP:0012111", + "Abnormal circulating corticosterone level": "HP:0012112", + "Abnormality of circulating corticosterone level": "HP:0012112", + "Abnormal circulating creatine concentration": "HP:0012113", + "Abnormality of creatine metabolism": "HP:0012113", + "Creatine metabolism abnormal": "HP:0012113", + "Endometrial carcinoma": "HP:0012114", + "Hepatitis": "HP:0012115", + "Liver inflammation": "HP:0012115", + "Abnormal circulating albumin concentration": "HP:0012116", + "Abnormal albumin level": "HP:0012116", + "Hyperalbuminemia": "HP:0012117", + "High albumin": "HP:0012117", + "High blood albumin levels": "HP:0012117", + "Hyperalbuminaemia": "HP:0012117", + "Laryngeal carcinoma": "HP:0012118", + "Cancer of the larynx": "HP:0012118", + "Laryngeal cancer": "HP:0012118", + "Methemoglobinemia": "HP:0012119", + "Methylmalonic aciduria": "HP:0012120", + "High blood methylmalonic acid levels": "HP:0012120", + "Methymalonicaciduria": "HP:0012120", + "Panuveitis": "HP:0012121", + "Anterior uveitis": "HP:0012122", + "Posterior uveitis": "HP:0012123", + "Choroiditis": "HP:0012123", + "Intermediate uveitis": "HP:0012124", + "Prostate cancer": "HP:0012125", + "Prostatic cancer": "HP:0012125", + "Stomach cancer": "HP:0012126", + "Gastric cancer": "HP:0012126", + "Uraciluria": "HP:0012127", + "High urine uracil levels": "HP:0012127", + "Basal ganglia necrosis": "HP:0012128", + "Abnormality of bone marrow stromal cells": "HP:0012129", + "Abnormal erythroid lineage cell morphology": "HP:0012130", + "Abnormality of cells of the erythroid lineage": "HP:0012130", + "Abnormal number of erythroid precursors": "HP:0012131", + "Erythroid hyperplasia": "HP:0012132", + "Bone marrow biopsy shows erythroid hyperplasia": "HP:0012132", + "Bone marrow smear shows erythroid hyperplasia": "HP:0012132", + "Erythroid hypoplasia": "HP:0012133", + "Erythroblastopenia": "HP:0012133", + "Erythroid hypoplasia in the bone marrow": "HP:0012133", + "Dysplastic erythropoesis": "HP:0012134", + "Abnormal granulocytopoietic cell morphology": "HP:0012135", + "Abnormality of cells of the granulocytic lineage": "HP:0012135", + "Dysplastic granulopoesis": "HP:0012136", + "Abnormal number of granulocyte precursors": "HP:0012137", + "Granulocytic hyperplasia": "HP:0012138", + "Granulocytic hypoplasia": "HP:0012139", + "obsolete Abnormality of cells of the lymphoid lineage": "HP:0012140", + "Pancreatic squamous cell carcinoma": "HP:0012142", + "Squamous cell carcinoma of the pancreas": "HP:0012142", + "Abnormal megakaryocyte morphology": "HP:0012143", + "Abnormality of cells of the megakaryocyte lineage": "HP:0012143", + "Abnormal monocyte morphology": "HP:0012144", + "Abnormality of multiple cell lineages in the bone marrow": "HP:0012145", + "Abnormality of von Willebrand factor": "HP:0012146", + "Reduced quantity of Von Willebrand factor": "HP:0012147", + "Decreased von Willebrand factor": "HP:0012147", + "Multiple lineage myelodysplasia": "HP:0012148", + "Bilineage myelodysplasia": "HP:0012149", + "Single lineage myelodysplasia": "HP:0012150", + "Hemothorax": "HP:0012151", + "Foveoschisis": "HP:0012152", + "Retinoschisis involving the fovea": "HP:0012152", + "Hypotriglyceridemia": "HP:0012153", + "Decreased circulating Tg levels": "HP:0012153", + "Decreased plasma Tg levels": "HP:0012153", + "Low blood triglyceride levels": "HP:0012153", + "Anhedonia": "HP:0012154", + "Anhedonic": "HP:0012154", + "Decreased corneal sensation": "HP:0012155", + "Corneal hypaesthesia": "HP:0012155", + "Corneal hypesthesia": "HP:0012155", + "Reduced corneal sensation": "HP:0012155", + "Decreased corneal sensitivity": "HP:0012155", + "Hemophagocytosis": "HP:0012156", + "Subcortical cerebral atrophy": "HP:0012157", + "Carotid artery dissection": "HP:0012158", + "Internal carotid artery dissection": "HP:0012159", + "Intracranial internal carotid artery dissection": "HP:0012160", + "External carotid artery dissection": "HP:0012161", + "Common carotid artery dissection": "HP:0012162", + "Carotid artery dilatation": "HP:0012163", + "Carotid artery aneurysm": "HP:0012163", + "Asterixis": "HP:0012164", + "Oligodactyly": "HP:0012165", + "Skin-picking": "HP:0012166", + "Compulsive skin picking": "HP:0012166", + "Dermatillomania": "HP:0012166", + "Hair-pulling": "HP:0012167", + "Trichotillomania": "HP:0012167", + "Head-banging": "HP:0012168", + "Self-biting": "HP:0012169", + "Nail-biting": "HP:0012170", + "Onychophagia": "HP:0012170", + "Onychophagy": "HP:0012170", + "Stereotypical hand wringing": "HP:0012171", + "Hand clasping": "HP:0012171", + "Hand-wringing": "HP:0012171", + "Handwringing": "HP:0012171", + "Stereotypical body rocking": "HP:0012172", + "Orthostatic tachycardia": "HP:0012173", + "Postural tachycardia": "HP:0012173", + "Glioblastoma multiforme": "HP:0012174", + "Glioblastoma": "HP:0012174", + "Resistance to activated protein C": "HP:0012175", + "Activated protein C resistance": "HP:0012175", + "Abnormal natural killer cell morphology": "HP:0012176", + "Abnormal NK cells": "HP:0012176", + "Abnormality of natural killer cells": "HP:0012176", + "Abnormal natural killer cell physiology": "HP:0012177", + "Reduced natural killer cell activity": "HP:0012178", + "Craniofacial dystonia": "HP:0012179", + "Abnormal craniofacial posture": "HP:0012179", + "Distorted craniofacial posture": "HP:0012179", + "Abnormal craniofacial muscle tone": "HP:0012179", + "Abnormal facial muscle tone": "HP:0012179", + "Facial Dystonia": "HP:0012179", + "Cystic medial necrosis": "HP:0012180", + "Arterial cystic medial necrosis": "HP:0012180", + "Entrapment neuropathy": "HP:0012181", + "Oropharyngeal squamous cell carcinoma": "HP:0012182", + "Hyperplastic colonic polyposis": "HP:0012183", + "Increased HDL cholesterol concentration": "HP:0012184", + "High blood HDL level": "HP:0012184", + "Hyperalphalipoproteinemia": "HP:0012184", + "Increased circulating high-density lipoprotein levels": "HP:0012184", + "Constrictive median neuropathy": "HP:0012185", + "Carpal tunnel syndrome": "HP:0012185", + "Entrapment neuropathy of the ulnar nerve at elbow": "HP:0012186", + "Cubital tunnel syndrome": "HP:0012186", + "Increased erythrocyte protoporphyrin concentration": "HP:0012187", + "Hyperemesis gravidarum": "HP:0012188", + "Hodgkin lymphoma": "HP:0012189", + "Hodgkin disease": "HP:0012189", + "Hodgkin's lymphoma": "HP:0012189", + "T-cell lymphoma": "HP:0012190", + "T cell lymphoma": "HP:0012190", + "B-cell lymphoma": "HP:0012191", + "B cell lymphoma": "HP:0012191", + "Cutaneous T-cell lymphoma": "HP:0012192", + "Anaplastic large-cell lymphoma": "HP:0012193", + "Episodic hemiplegia": "HP:0012194", + "Irregular respiration": "HP:0012195", + "Irregular respiratory rhythm": "HP:0012195", + "Cheyne-Stokes respiration": "HP:0012196", + "Cheyne-Stokes breathing": "HP:0012196", + "Periodic respiration": "HP:0012196", + "Insulinoma": "HP:0012197", + "Pancreatic insulinoma": "HP:0012197", + "Juvenile colonic polyposis": "HP:0012198", + "Cluster headache": "HP:0012199", + "Abnormality of prothrombin": "HP:0012200", + "obsolete Reduced prothrombin activity": "HP:0012201", + "Increased serum bile acid concentration": "HP:0012202", + "Onychomycosis": "HP:0012203", + "Recurrent vulvovaginal candidiasis": "HP:0012204", + "Globozoospermia": "HP:0012205", + "Abnormal sperm motility": "HP:0012206", + "Reduced sperm motility": "HP:0012207", + "Asthenospermia": "HP:0012207", + "Asthenozoospermia": "HP:0012207", + "Immotile sperm": "HP:0012208", + "Nonmotile sperm": "HP:0012208", + "Juvenile myelomonocytic leukemia": "HP:0012209", + "Juvenile myelomonocytic leukaemia": "HP:0012209", + "Abnormal renal morphology": "HP:0012210", + "Abnormal kidney morphology": "HP:0012210", + "Abnormally shaped kidney": "HP:0012210", + "Kidney malformation": "HP:0012210", + "Kidney structure issue": "HP:0012210", + "Renal malformation": "HP:0012210", + "Structural anomalies of the renal tract": "HP:0012210", + "Structural kidney abnormalities": "HP:0012210", + "Structural renal anomalies": "HP:0012210", + "Abnormal renal physiology": "HP:0012211", + "Abnormal kidney function": "HP:0012211", + "Abnormal renal function": "HP:0012211", + "Abnormality of renal physiology": "HP:0012211", + "Kidney function issue": "HP:0012211", + "Renal functional abnormality": "HP:0012211", + "Abnormal glomerular filtration rate": "HP:0012212", + "Abnormal GFR": "HP:0012212", + "Decreased glomerular filtration rate": "HP:0012213", + "Decreased GFR": "HP:0012213", + "Impaired renal creatinine clearance": "HP:0012213", + "Reduced creatinine clearance": "HP:0012213", + "Increased glomerular filtration rate": "HP:0012214", + "Increased GFR": "HP:0012214", + "Testicular microlithiasis": "HP:0012215", + "Entrapment neuropathy of suprascapular nerve": "HP:0012216", + "Suprascapular nerve entrapment": "HP:0012216", + "Increased urinary porphobilinogen": "HP:0012217", + "Alveolar soft part sarcoma": "HP:0012218", + "Erythema nodosum": "HP:0012219", + "Non-caseating epithelioid cell granulomatosis": "HP:0012220", + "Pretibial blistering": "HP:0012221", + "Pretibial epidermolysis bullosa": "HP:0012221", + "Arachnoid hemangiomatosis": "HP:0012222", + "Splenic rupture": "HP:0012223", + "Ruptured spleen": "HP:0012223", + "Circulating immune complexes": "HP:0012224", + "Oligodontia of primary teeth": "HP:0012225", + "Failure of development of some deciduous teeth": "HP:0012225", + "Failure of development of some primary teeth": "HP:0012225", + "Partial anodontia of deciduous teeth": "HP:0012225", + "Partial anodontia of primary teeth": "HP:0012225", + "Decreased number of baby teeth": "HP:0012225", + "Decreased number of deciduous teeth": "HP:0012225", + "Decreased number of milk teeth": "HP:0012225", + "Decreased number of primary teeth": "HP:0012225", + "Fewer baby teeth than normal": "HP:0012225", + "Fewer deciduous teeth than normal": "HP:0012225", + "Fewer primary teeth than normal": "HP:0012225", + "Missing some baby teeth": "HP:0012225", + "Missing some milk teeth": "HP:0012225", + "Missing some primary teeth": "HP:0012225", + "Ovarian teratoma": "HP:0012226", + "Urethral stricture": "HP:0012227", + "Tension-type headache": "HP:0012228", + "CSF pleocytosis": "HP:0012229", + "Cerebrospinal fluid pleocytosis": "HP:0012229", + "Increased leukocyte count in CSF": "HP:0012229", + "Rhegmatogenous retinal detachment": "HP:0012230", + "Exudative retinal detachment": "HP:0012231", + "Serous retinal detachment": "HP:0012231", + "Shortened QT interval": "HP:0012232", + "Intramuscular hematoma": "HP:0012233", + "IM hematoma": "HP:0012233", + "Intramuscular haematoma": "HP:0012233", + "Intramuscular hematomas": "HP:0012233", + "Agranulocytosis": "HP:0012234", + "Drug-induced agranulocytosis": "HP:0012235", + "Elevated sweat chloride": "HP:0012236", + "Elevated sweat Cl": "HP:0012236", + "Elevated sweat Cl-": "HP:0012236", + "Urocanic aciduria": "HP:0012237", + "High urine urocanic acid levels": "HP:0012237", + "Increased circulating chylomicron concentration": "HP:0012238", + "Hyperchylomicronemia": "HP:0012238", + "Increased chylomicrons": "HP:0012238", + "Increased circulating chylomicron levels": "HP:0012238", + "Atransferrinemia": "HP:0012239", + "Increased intramyocellular lipid droplets": "HP:0012240", + "Increased muscle lipid droplets": "HP:0012240", + "Levator palpebrae superioris atrophy": "HP:0012241", + "Superior rectus atrophy": "HP:0012242", + "Rectus superior atrophy": "HP:0012242", + "Abnormal reproductive system morphology": "HP:0012243", + "Abnormal genital system morphology": "HP:0012243", + "Abnormal sex determination": "HP:0012244", + "Sex reversal": "HP:0012245", + "Oculomotor nerve palsy": "HP:0012246", + "Oculomotor neuropathy": "HP:0012246", + "Specific anosmia": "HP:0012247", + "Prolonged PR interval": "HP:0012248", + "Electrocardiographic long PR interval": "HP:0012248", + "Lengthened PR interval on EKG": "HP:0012248", + "Abnormal ST segment": "HP:0012249", + "ST segment depression": "HP:0012250", + "ST segment elevation": "HP:0012251", + "Abnormal respiratory system morphology": "HP:0012252", + "Abnormal respiratory epithelium morphology": "HP:0012253", + "Ewing sarcoma": "HP:0012254", + "Ewing's sarcoma": "HP:0012254", + "Dynein arm defect of respiratory motile cilia": "HP:0012255", + "Absent outer dynein arms": "HP:0012256", + "Absent inner dynein arms": "HP:0012257", + "Abnormal axonemal organization of respiratory motile cilia": "HP:0012258", + "Abnormal axonemal organisation of respiratory motile cilia": "HP:0012258", + "Absent inner and outer dynein arms": "HP:0012259", + "Abnormal central microtubular pair morphology of respiratory motile cilia": "HP:0012260", + "Abnormal respiratory motile cilium physiology": "HP:0012261", + "Abnormal ciliary motility": "HP:0012262", + "Immotile cilia": "HP:0012263", + "Absent central microtubular pair morphology of respiratory motile cilia": "HP:0012264", + "Ciliary dyskinesia": "HP:0012265", + "Lack of coordinated beating of respiratory cilia": "HP:0012265", + "T-wave alternans": "HP:0012266", + "Absent respiratory ciliary axoneme radial spokes": "HP:0012267", + "Myxoid liposarcoma": "HP:0012268", + "Abnormal muscle glycogen content": "HP:0012269", + "Decreased muscle glycogen content": "HP:0012270", + "Episodic upper airway obstruction": "HP:0012271", + "J wave": "HP:0012272", + "EKG J waves": "HP:0012272", + "Osborne waves": "HP:0012272", + "Increased carotid artery intimal medial thickness": "HP:0012273", + "Autosomal dominant inheritance with paternal imprinting": "HP:0012274", + "Autosomal dominant inheritance with maternal imprinting": "HP:0012275", + "Digital flexor tenosynovitis": "HP:0012276", + "Trigger finger": "HP:0012276", + "Hypoglycinemia": "HP:0012277", + "Low blood glycine levels": "HP:0012277", + "Abnormal circulating serine concentration": "HP:0012278", + "Hyposerinemia": "HP:0012279", + "Low blood serine levels": "HP:0012279", + "Hepatic amyloidosis": "HP:0012280", + "Chylous ascites": "HP:0012281", + "Chyloperitoneum": "HP:0012281", + "Morbilliform rash": "HP:0012282", + "Small distal femoral epiphysis": "HP:0012283", + "Small end part of outermost thighbone": "HP:0012283", + "Small proximal tibial epiphyses": "HP:0012284", + "Small end part of innermost shankbone": "HP:0012284", + "Small end part of innermost shinbone": "HP:0012284", + "Abnormal hypothalamus physiology": "HP:0012285", + "Abnormal hypothalamus morphology": "HP:0012286", + "Abnormal shape of hypothalamus": "HP:0012286", + "Abnormality of hypothalamus morphology": "HP:0012286", + "Abnormality of the hypothalamus": "HP:0012286", + "Hypothalamic luteinizing hormone-releasing hormone deficiency": "HP:0012287", + "Neoplasm of head and neck": "HP:0012288", + "Head and neck tumor": "HP:0012288", + "Head and neck tumour": "HP:0012288", + "Head and neck cancer": "HP:0012288", + "Facial neoplasm": "HP:0012289", + "Face tumor": "HP:0012289", + "Face tumour": "HP:0012289", + "obsolete Mouth neoplasm": "HP:0012290", + "obsolete Tracheal neoplasm": "HP:0012291", + "Fusion of gums": "HP:0012292", + "Fusion of the gingiva": "HP:0012292", + "Gingival synechia": "HP:0012292", + "Partial fusion of the gums": "HP:0012292", + "Synechia of the gums": "HP:0012292", + "Upper and lower gums fused together": "HP:0012292", + "Abnormal genital pigmentation": "HP:0012293", + "Abnormal occipital bone morphology": "HP:0012294", + "Abnormality of the occipital bone": "HP:0012294", + "Slender middle phalanx of finger": "HP:0012295", + "Slender middle bone of finger": "HP:0012295", + "Slender distal phalanx of finger": "HP:0012296", + "Slender outermost bone of finger": "HP:0012296", + "Slender proximal phalanx of finger": "HP:0012297", + "Slender innermost bone of finger": "HP:0012297", + "Long middle phalanx of finger": "HP:0012298", + "Long middle bone of finger": "HP:0012298", + "Long distal phalanx of finger": "HP:0012299", + "Long outermost bone of finger": "HP:0012299", + "Ureteral agenesis": "HP:0012300", + "Type II transferrin isoform profile": "HP:0012301", + "Abnormal isoelectric focusing of serum transferrin, type II pattern": "HP:0012301", + "Isoelectric focusing of serum transferrin consistent with CDG type II": "HP:0012301", + "Type 2 transferrin isoform profile": "HP:0012301", + "Abnormal isoelectric focusing of serum transferrin, type 2 pattern": "HP:0012301", + "Herpes simplex encephalitis": "HP:0012302", + "Herpes encephalitis": "HP:0012302", + "Abnormal aortic arch morphology": "HP:0012303", + "Abnormality of the aortic arch": "HP:0012303", + "Hypoplastic aortic arch": "HP:0012304", + "Aortic arch hypoplasia": "HP:0012304", + "Underdeveloped aortic arch": "HP:0012304", + "Coarctation of the descending aortic arch": "HP:0012305", + "Abnormal rib ossification": "HP:0012306", + "Abnormal maturation of rib bones": "HP:0012306", + "Spatulate ribs": "HP:0012307", + "Decreased circulating complement C9 concentration": "HP:0012308", + "Decreased serum C9": "HP:0012308", + "Decreased serum complement C9": "HP:0012308", + "Cutaneous amyloidosis": "HP:0012309", + "Abnormal monocyte count": "HP:0012310", + "Abnormal monocyte number": "HP:0012310", + "Monocytosis": "HP:0012311", + "High blood monocyte number": "HP:0012311", + "Monocytopenia": "HP:0012312", + "Low blood monocyte number": "HP:0012312", + "Heberden node": "HP:0012313", + "Heberden's node": "HP:0012313", + "Bouchard node": "HP:0012314", + "Bouchard's node": "HP:0012314", + "Histiocytoma": "HP:0012315", + "Fibrous tissue neoplasm": "HP:0012316", + "Sacroiliac arthritis": "HP:0012317", + "Sacroiliitis": "HP:0012317", + "Occipital neuralgia": "HP:0012318", + "Absent pigmentation of the abdomen": "HP:0012319", + "Absent pigmentation of the limbs": "HP:0012320", + "D-2-hydroxyglutaric aciduria": "HP:0012321", + "Perifolliculitis": "HP:0012322", + "Perifollicular inflammation": "HP:0012322", + "Sleep myoclonus": "HP:0012323", + "Myeloid leukemia": "HP:0012324", + "Myeloid leukaemia": "HP:0012324", + "Chronic myelomonocytic leukemia": "HP:0012325", + "Chronic myelomonocytic leukaemia": "HP:0012325", + "Abnormal celiac artery morphology": "HP:0012326", + "Abnormal coeliac artery morphology": "HP:0012326", + "Abnormality of the celiac artery": "HP:0012326", + "Abnormality of the coeliac artery": "HP:0012326", + "Celiac artery compression": "HP:0012327", + "Coeliac artery compression": "HP:0012327", + "Celiac axis syndrome": "HP:0012327", + "Coeliac axis syndrome": "HP:0012327", + "Dunbar syndrome": "HP:0012327", + "Median arcuate ligament syndrome": "HP:0012327", + "Cementoma": "HP:0012328", + "Tufted angioma": "HP:0012329", + "Angioblastoma": "HP:0012329", + "Angioblastoma of Nakagawa": "HP:0012329", + "Hypertrophic hemangioma": "HP:0012329", + "Progressive capillary hemangioma": "HP:0012329", + "Tufted hemangioma": "HP:0012329", + "Pyelonephritis": "HP:0012330", + "Abnormal autonomic nervous system morphology": "HP:0012331", + "Abnormal autonomic nervous system physiology": "HP:0012332", + "Autonomic dysfunction": "HP:0012332", + "Autonomic dysregulation": "HP:0012332", + "Dysautonomia": "HP:0012332", + "Abnormal sudomotor regulation": "HP:0012333", + "Sudomotor sympathetic dysfunction": "HP:0012333", + "Extrahepatic cholestasis": "HP:0012334", + "Abnormality of folate metabolism": "HP:0012335", + "obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration": "HP:0012336", + "Abnormal homeostasis": "HP:0012337", + "Abnormal energy expenditure": "HP:0012338", + "Increased resting energy expenditure": "HP:0012339", + "Decreased resting energy expenditure": "HP:0012340", + "Microprolactinoma": "HP:0012341", + "Macroprolactinoma": "HP:0012342", + "Decreased circulating ferritin concentration": "HP:0012343", + "Decreased plasma ferritin": "HP:0012343", + "Decreased serum ferritin": "HP:0012343", + "Low ferritin level": "HP:0012343", + "Reduced serum ferritin": "HP:0012343", + "Morphea": "HP:0012344", + "Abnormal glycosylation": "HP:0012345", + "Abnormal protein glycosylation": "HP:0012346", + "Abnormal protein N-linked glycosylation": "HP:0012347", + "Decreased galactosylation of N-linked protein glycosylation": "HP:0012348", + "Abnormal sialylation of N-linked protein glycosylation": "HP:0012349", + "Decreased sialylation of N-linked protein glycosylation": "HP:0012350", + "Increased sialylation of N-linked protein glycosylation": "HP:0012351", + "Abnormal fucosylation of protein N-linked glycosylation": "HP:0012352", + "Decreased fucosylation of N-linked protein glycosylation": "HP:0012353", + "Increased fucosylation of N-linked protein glycosylation": "HP:0012354", + "Abnormal mannosylation of N-linked protein glycosylation": "HP:0012355", + "Decreased mannosylation of N-linked protein glycosylation": "HP:0012356", + "Increased mannosylation of N-linked protein glycosylation": "HP:0012357", + "Abnormal protein O-linked glycosylation": "HP:0012358", + "Abnormal fucosylation of O-linked protein glycosylation": "HP:0012359", + "Decreased fucosylation of O-linked protein glycosylation": "HP:0012360", + "Increased fucosylation of O-linked protein glycosylation": "HP:0012361", + "Abnormal sialylation of O-linked protein glycosylation": "HP:0012362", + "Decreased sialylation of O-linked protein glycosylation": "HP:0012363", + "Decreased urinary potassium": "HP:0012364", + "Decreased urinary K": "HP:0012364", + "Hypokaliuria": "HP:0012364", + "Hypokaluria": "HP:0012364", + "Low urine potassium levels": "HP:0012364", + "Hypophosphaturia": "HP:0012365", + "Low urine phosphate levels": "HP:0012365", + "Basilar invagination": "HP:0012366", + "Extra fontanelles": "HP:0012367", + "Flat face": "HP:0012368", + "Flat facial profile": "HP:0012368", + "Flat facial shape": "HP:0012368", + "Flat facies": "HP:0012368", + "obsolete Abnormal malar bone morphology": "HP:0012369", + "Prominence of the zygomatic bone": "HP:0012370", + "Cheekbone excess": "HP:0012370", + "Zygomatic bone excess": "HP:0012370", + "Cheekbone prominence": "HP:0012370", + "Malar hypertrophy": "HP:0012370", + "Prominence of cheekbone": "HP:0012370", + "Pronounced cheekbone": "HP:0012370", + "Hyperplasia of cheekbone": "HP:0012370", + "Hyperplasia of zygomatic bone": "HP:0012370", + "Zygomatic hypertrophy": "HP:0012370", + "Hyperplasia of midface": "HP:0012371", + "Big midface": "HP:0012371", + "Large midface": "HP:0012371", + "Midface hyperplasia": "HP:0012371", + "Midfacial excess": "HP:0012371", + "Midfacial prominence": "HP:0012371", + "Hypertrophy of midface": "HP:0012371", + "Overgrowth of the midface": "HP:0012371", + "Abnormal eye morphology": "HP:0012372", + "Abnormal eye structure": "HP:0012372", + "Abnormality of the globe": "HP:0012372", + "Abnormally shaped eye": "HP:0012372", + "Abnormal eye physiology": "HP:0012373", + "Abnormal vision physiology": "HP:0012373", + "obsolete Abnormal globe morphology": "HP:0012374", + "Chemosis": "HP:0012375", + "Microphakia": "HP:0012376", + "Small lens": "HP:0012376", + "Hemianopia": "HP:0012377", + "Hemianopsia": "HP:0012377", + "Fatigue": "HP:0012378", + "Tired": "HP:0012378", + "Tiredness": "HP:0012378", + "Abnormal circulating enzyme concentration or activity": "HP:0012379", + "Reduced tissue carnitine O-palmitoyltransferase 2 activity": "HP:0012380", + "Delayed self-feeding during toddler years": "HP:0012381", + "Left-to-right shunt": "HP:0012382", + "Bidirectional shunt": "HP:0012383", + "Rhinitis": "HP:0012384", + "Nasal inflammation": "HP:0012384", + "Camptodactyly": "HP:0012385", + "Permanent flexion of the finger or toe": "HP:0012385", + "Absent hallux": "HP:0012386", + "Absent big toe": "HP:0012386", + "Agenesis of the halluces": "HP:0012386", + "Aplasia of the hallux": "HP:0012386", + "Missing big toe": "HP:0012386", + "Bronchitis": "HP:0012387", + "Acute bronchitis": "HP:0012388", + "Appendicular hypotonia": "HP:0012389", + "Anal fissure": "HP:0012390", + "Anal erosion": "HP:0012390", + "Hyporeflexia of upper limbs": "HP:0012391", + "Jaw hyporeflexia": "HP:0012392", + "Mandibular hyporeflexia": "HP:0012392", + "Allergy": "HP:0012393", + "Iodine contrast allergy": "HP:0012394", + "Seasonal allergy": "HP:0012395", + "Biliary dyskinesia": "HP:0012396", + "Aortic atherosclerotic lesion": "HP:0012397", + "Aortic atherosclerosis": "HP:0012397", + "Plaque build-up in aorta artery": "HP:0012397", + "Atherosclerosis of the aorta": "HP:0012397", + "Atherosclerotic changes of aorta": "HP:0012397", + "Peripheral edema": "HP:0012398", + "Peripheral oedema": "HP:0012398", + "Pressure ulcer": "HP:0012399", + "Bedsore": "HP:0012399", + "Decubitus Ulcer": "HP:0012399", + "Pressure Sore": "HP:0012399", + "Abnormal circulating aldolase concentration": "HP:0012400", + "Abnormal aldolase level": "HP:0012400", + "Abnormal urine alpha-ketoglutarate concentration": "HP:0012401", + "Abnormal urinary 2-oxoglutarate level": "HP:0012401", + "Abnormality of urine alpha ketoglutarate concentration": "HP:0012401", + "Increased urine alpha-ketoglutarate concentration": "HP:0012402", + "Elevated urinary 2-oxoglutarate": "HP:0012402", + "Decreased urine alpha-ketoglutarate concentration": "HP:0012403", + "Decreased urinary 2-oxoglutarate": "HP:0012403", + "Abnormal urine citrate concentration": "HP:0012404", + "Abnormal urine citric acid concentration": "HP:0012404", + "Hypocitraturia": "HP:0012405", + "Decreased urine citrate concentration": "HP:0012405", + "Hypercitraturia": "HP:0012406", + "Increased urine citrate concentration": "HP:0012406", + "Scissor gait": "HP:0012407", + "Scissor walk": "HP:0012407", + "Scissoring gait": "HP:0012407", + "Scissoring of the lower extremities": "HP:0012407", + "Scissoring of the lower limbs": "HP:0012407", + "Scissors gait": "HP:0012407", + "Medullary nephrocalcinosis": "HP:0012408", + "Cortical nephrocalcinosis": "HP:0012409", + "Pure red cell aplasia": "HP:0012410", + "Red cell aplasia": "HP:0012410", + "Premature pubarche": "HP:0012411", + "Premature pubic hair growth": "HP:0012411", + "Premature adrenarche": "HP:0012412", + "Notched primary central incisor": "HP:0012413", + "Notched front baby tooth": "HP:0012413", + "Notched front deciduous tooth": "HP:0012413", + "Notched front primary tooth": "HP:0012413", + "Syphilitic primary incisor": "HP:0012413", + "Duodenal atrophy": "HP:0012414", + "Abnormal blood gas level": "HP:0012415", + "Hypercapnia": "HP:0012416", + "High blood carbon dioxide level": "HP:0012416", + "Hypercarbia": "HP:0012416", + "Hypocapnia": "HP:0012417", + "Hypocarbia": "HP:0012417", + "Reduced carbon dioxide in the blood": "HP:0012417", + "Hypoxemia": "HP:0012418", + "Low blood oxygen level": "HP:0012418", + "Hypoxia": "HP:0012418", + "Hyperoxemia": "HP:0012419", + "Meconium stained amniotic fluid": "HP:0012420", + "Meconium staining of amniotic fluid": "HP:0012420", + "Meconium-stained amniotic fluid": "HP:0012420", + "Congenital absence of foreskin": "HP:0012421", + "Absent foreskin": "HP:0012421", + "Aposthia": "HP:0012421", + "Villous hypertrophy of choroid plexus": "HP:0012422", + "Choroid plexus hypertrophy": "HP:0012422", + "Diffuse villous hypertrophy of choroid plexus": "HP:0012422", + "Colonic inertia": "HP:0012423", + "Chorioretinitis": "HP:0012424", + "Stercoral ulcer": "HP:0012425", + "Colon ulcer": "HP:0012425", + "Recto-sigmoid colon stercoral ulcer": "HP:0012425", + "Optic disc drusen": "HP:0012426", + "Optic nerve head drusen": "HP:0012426", + "Increased femoral anteversion": "HP:0012427", + "Excessive femoral anteversion": "HP:0012427", + "Increased femoral neck anteversion": "HP:0012427", + "Internally rotated hips": "HP:0012427", + "Prominent calcaneus": "HP:0012428", + "Prominent heel bone": "HP:0012428", + "Aplasia/Hypoplasia of the cerebral white matter": "HP:0012429", + "Absent/small cerebral white matter": "HP:0012429", + "Absent/underdeveloped cerebral white matter": "HP:0012429", + "Cerebral white matter hypoplasia": "HP:0012430", + "Paucity of cerebral white matter": "HP:0012430", + "Episodic fatigue": "HP:0012431", + "Chronic fatigue": "HP:0012432", + "Chronic extreme exhaustion": "HP:0012432", + "Abnormal social behavior": "HP:0012433", + "Abnormal social interactions": "HP:0012433", + "Delayed early-childhood social milestone development": "HP:0012434", + "Delayed milestone development": "HP:0012434", + "Delayed social development": "HP:0012434", + "Ventral shortening of foreskin": "HP:0012435", + "Nonocclusive coronary artery atherosclerosis": "HP:0012436", + "Non-occlusive coronary artery disease": "HP:0012436", + "Non-occlusive coronary artery stenosis": "HP:0012436", + "Nonocclusive coronary artery disease": "HP:0012436", + "Nonocclusive coronary artery stenosis": "HP:0012436", + "Abnormal gallbladder morphology": "HP:0012437", + "Abnormal gallbladder structure": "HP:0012437", + "Abnormal shape of gallbladder": "HP:0012437", + "Abnormal gallbladder physiology": "HP:0012438", + "Abnormal biliary tract physiology": "HP:0012439", + "Abnormal biliary tract morphology": "HP:0012440", + "Anomaly of the biliary tract": "HP:0012440", + "Sphincter of Oddi dyskinesia": "HP:0012441", + "Sphincter of Oddi dysfunction": "HP:0012441", + "Gallbladder dyskinesia": "HP:0012442", + "Abnormal brain morphology": "HP:0012443", + "Abnormal shape of brain": "HP:0012443", + "Abnormality of brain morphology": "HP:0012443", + "Abnormality of the brain": "HP:0012443", + "Brain atrophy": "HP:0012444", + "Brain degeneration": "HP:0012444", + "Brain wasting": "HP:0012444", + "Decreased CSF 5-methyltetrahydrofolate concentration": "HP:0012446", + "Low CSF 5-methyltetrahydrofolate": "HP:0012446", + "Reduced CSF 5-methyltetrahydrofolate concentration": "HP:0012446", + "Cerebral folate deficiency": "HP:0012446", + "Abnormal myelination": "HP:0012447", + "Delayed myelination": "HP:0012448", + "Sacroiliac joint synovitis": "HP:0012449", + "Chronic constipation": "HP:0012450", + "Infrequent bowel movements": "HP:0012450", + "Acute constipation": "HP:0012451", + "Restless legs": "HP:0012452", + "Restless legs syndrome": "HP:0012452", + "Tachyathetosis": "HP:0012452", + "Ekbom syndrome": "HP:0012452", + "Willis-Ekbom disease": "HP:0012452", + "Wittmaack-Ekbom syndrome": "HP:0012452", + "Bilateral wrist flexion contracture": "HP:0012453", + "Bilateral wrist contracture": "HP:0012453", + "Unilateral wrist flexion contracture": "HP:0012454", + "Unilateral wrist contracture": "HP:0012454", + "obsolete Large artery calcification": "HP:0012455", + "Medial arterial calcification": "HP:0012456", + "Medial calcification of medium-sized arteries": "HP:0012457", + "Medial calcification of small arteries": "HP:0012458", + "Hypnic headache": "HP:0012459", + "Alarm clock headache": "HP:0012459", + "Dysmorphic inferior cerebellar vermis": "HP:0012460", + "Bacteriuria": "HP:0012461", + "Bacteria in urine": "HP:0012461", + "High urine bacteria": "HP:0012461", + "Chin myoclonus": "HP:0012462", + "Geniospasm": "HP:0012462", + "Chin spasms": "HP:0012462", + "Elevated transferrin saturation": "HP:0012463", + "Decreased transferrin saturation": "HP:0012464", + "Elevated hepatic iron concentration": "HP:0012465", + "Increased iron concentration in liver": "HP:0012465", + "Increased liver iron level": "HP:0012465", + "Chronic respiratory acidosis": "HP:0012466", + "Acute respiratory acidosis": "HP:0012467", + "Chronic acidosis": "HP:0012468", + "Infantile spasms": "HP:0012469", + "Setting-sun eye phenomenon": "HP:0012470", + "Sun setting eyes": "HP:0012470", + "Sunsetting eye": "HP:0012470", + "Eyes fixed downward": "HP:0012470", + "Thick vermilion border": "HP:0012471", + "Full lips": "HP:0012471", + "Increased volume of lip": "HP:0012471", + "Increased volume of lip vermillion": "HP:0012471", + "Plump lips": "HP:0012471", + "Prominent lips": "HP:0012471", + "Thick lips": "HP:0012471", + "Eclabion": "HP:0012472", + "Eclabium": "HP:0012472", + "Everted lips": "HP:0012472", + "Outward turned lips": "HP:0012472", + "Tongue atrophy": "HP:0012473", + "Atrophy of the tongue": "HP:0012473", + "Lingual atrophy": "HP:0012473", + "Lingual wasting": "HP:0012473", + "Wasting of the tongue": "HP:0012473", + "Carotid artery occlusion": "HP:0012474", + "Obstructed carotid artery": "HP:0012474", + "Decreased circulating level of specific antibody": "HP:0012475", + "Abnormal specific antibody response": "HP:0012475", + "Decreased specific antibody in blood": "HP:0012475", + "Specific antibody deficiency": "HP:0012475", + "Decreased specific pneumococcal antibody level": "HP:0012476", + "Low pneumococcal antibody titer": "HP:0012476", + "Specific pneumococcal antibody deficiency": "HP:0012476", + "Vocal tremor": "HP:0012477", + "Shakey voice": "HP:0012477", + "Temporomandibular joint ankylosis": "HP:0012478", + "Ankylosis of temporomandibular joint": "HP:0012478", + "Freezing of jaw joint": "HP:0012478", + "Freezing of the temporomandibular joint": "HP:0012478", + "Jaw ankylosis": "HP:0012478", + "Rigidity of the temporomandibular joint": "HP:0012478", + "Temporomandibular joint fusion": "HP:0012478", + "Adhesion of the temporomandibular joint": "HP:0012478", + "Temporomandibular joint crepitus": "HP:0012479", + "Jaw joint noise": "HP:0012479", + "Jaw joint sounds": "HP:0012479", + "Temporomandibular joint noise": "HP:0012479", + "Temporomandibular joint sounds": "HP:0012479", + "Jaw joint crepitus": "HP:0012479", + "Jaw joint clicking sound": "HP:0012479", + "Jaw joint grating sound": "HP:0012479", + "Jaw joint popping sound": "HP:0012479", + "Temporomandibular joint clicking sound": "HP:0012479", + "Temporomandibular joint grating sound": "HP:0012479", + "Temporomandibular joint popping sound": "HP:0012479", + "Abnormal cerebral vein morphology": "HP:0012480", + "Abnormality of cerebral veins": "HP:0012480", + "Cerebral venous angioma": "HP:0012481", + "Developmental Venous Anomaly": "HP:0012481", + "Frontal venous angioma": "HP:0012482", + "Abnormal alpha granules": "HP:0012483", + "Abnormal dense granules": "HP:0012484", + "Abnormal surface-connected open canalicular system": "HP:0012485", + "Myelitis": "HP:0012486", + "Inflammation of spinal cord": "HP:0012486", + "Cerebellopontine angle arachnoid cyst": "HP:0012487", + "Intraventricular arachnoid cyst": "HP:0012488", + "Suprasellar arachnoid cyst": "HP:0012489", + "Panniculitis": "HP:0012490", + "Inflammation of adipose tissue": "HP:0012490", + "Inflammation of fat tissue": "HP:0012490", + "Abnormal dense tubular system": "HP:0012491", + "Cerebral artery stenosis": "HP:0012492", + "Narrowing of a cerebral artery": "HP:0012492", + "Middle cerebral artery stenosis": "HP:0012493", + "Anterior cerebral artery stenosis": "HP:0012494", + "Posterior cerebral artery stenosis": "HP:0012495", + "Reduced maximal inspiratory pressure": "HP:0012496", + "Reduced maximal expiratory pressure": "HP:0012497", + "Nuchal cord": "HP:0012498", + "Descending aortic dissection": "HP:0012499", + "Type B aortic dissection": "HP:0012499", + "Verrucous papule": "HP:0012500", + "Papillomatous papule": "HP:0012500", + "Abnormal brainstem white matter morphology": "HP:0012501", + "Abnormality of the brainstem white matter": "HP:0012501", + "Abnormality of the internal capsule": "HP:0012502", + "Abnormal pituitary gland morphology": "HP:0012503", + "Abnormality of the pituitary gland": "HP:0012503", + "disorder of pituitary gland": "HP:0012503", + "Abnormal size of pituitary gland": "HP:0012504", + "Enlarged pituitary gland": "HP:0012505", + "Small pituitary gland": "HP:0012506", + "Weakness of orbicularis oculi muscle": "HP:0012507", + "Weakness of orbicularis oculi muscles": "HP:0012507", + "Metamorphopsia": "HP:0012508", + "Reduced thyroxin-binding globulin": "HP:0012509", + "Extra-axial cerebrospinal fluid accumulation": "HP:0012510", + "Extra-axial CSF accumulation": "HP:0012510", + "Temporal optic disc pallor": "HP:0012511", + "Diffuse optic disc pallor": "HP:0012512", + "Upper limb pain": "HP:0012513", + "Lower limb pain": "HP:0012514", + "Leg pain": "HP:0012514", + "Hip flexor weakness": "HP:0012515", + "Tetralogy of Fallot with pulmonary atresia": "HP:0012516", + "Reduced circulating catalase activity": "HP:0012517", + "Reduced catalase level": "HP:0012517", + "Abnormal circle of Willis morphology": "HP:0012518", + "Abnormality of the cerebral arterial circle": "HP:0012518", + "Hypoplastic posterior communicating artery": "HP:0012519", + "Hypoplastic posterior communicating arteries": "HP:0012519", + "Dilation of Virchow-Robin spaces": "HP:0012520", + "Dilated Virchow-Robin spaces": "HP:0012520", + "Perivascular spaces": "HP:0012520", + "Dilated cerebral perivascular spaces": "HP:0012520", + "Optic nerve aplasia": "HP:0012521", + "Absent optic nerve": "HP:0012521", + "Aplastic optic nerve": "HP:0012521", + "Spider hemangioma": "HP:0012522", + "Oral aversion": "HP:0012523", + "Abnormal platelet shape": "HP:0012524", + "Abnormal alpha granule distribution": "HP:0012525", + "Absence of alpha granules": "HP:0012526", + "Gray platelets": "HP:0012526", + "Grey platelets": "HP:0012526", + "Abnormal alpha granule content": "HP:0012527", + "Abnormal number of alpha granules": "HP:0012528", + "Abnormal dense granule content": "HP:0012529", + "Abnormal number of dense granules": "HP:0012530", + "Pain": "HP:0012531", + "Chronic pain": "HP:0012532", + "Long-lasting pain": "HP:0012532", + "Allodynia": "HP:0012533", + "Dysesthesia": "HP:0012534", + "Dysaesthesia": "HP:0012534", + "Hyperalgesia": "HP:0012534", + "Hyperpathia": "HP:0012534", + "Dysesthesias": "HP:0012534", + "Abnormal synaptic transmission": "HP:0012535", + "Abnormality of neurotransmitter metabolism": "HP:0012535", + "Maternal anticardiolipin antibody positive": "HP:0012536", + "Food intolerance": "HP:0012537", + "Non-allergic food hypersensitivity": "HP:0012537", + "Gluten intolerance": "HP:0012538", + "Gluten sensitivity": "HP:0012538", + "Non-Hodgkin lymphoma": "HP:0012539", + "Axillary epidermoid cyst": "HP:0012540", + "Armpit cyst": "HP:0012540", + "Cephalohematoma": "HP:0012541", + "Cephalohaematoma": "HP:0012541", + "Onychauxis": "HP:0012542", + "Hemosiderinuria": "HP:0012543", + "Elevated circulating aldolase concentration": "HP:0012544", + "Elevated aldolase level": "HP:0012544", + "Reduced circulating aldolase concentration": "HP:0012545", + "Reduced aldolase level": "HP:0012545", + "Skewed maternal X inactivation": "HP:0012546", + "Abnormal involuntary eye movements": "HP:0012547", + "Fatty replacement of skeletal muscle": "HP:0012548", + "Skeletal muscle fatty infiltration": "HP:0012548", + "Conjunctival lipoma": "HP:0012549", + "Colonic varices": "HP:0012550", + "Absent neutrophil specific granules": "HP:0012551", + "Increased neutrophil nuclear projections": "HP:0012552", + "Hypoplastic thumbnail": "HP:0012553", + "Small thumbnail": "HP:0012553", + "Underdeveloped thumbnail": "HP:0012553", + "Absent thumbnail": "HP:0012554", + "Absent nail of hallux": "HP:0012555", + "Absent big toe nail": "HP:0012555", + "Absent nail of big toe": "HP:0012555", + "Hyperbeta-alaninemia": "HP:0012556", + "High blood beta-alanine levels": "HP:0012556", + "Hyperbetaalaninemia": "HP:0012556", + "EEG with centrotemporal focal spike waves": "HP:0012557", + "Abnormal T3/T4 ratio": "HP:0012558", + "Increased T3/T4 ratio": "HP:0012559", + "Decreased T3/T4 ratio": "HP:0012560", + "Unicuspid aortic valve": "HP:0012561", + "Premature epimetaphyseal fusion in hand": "HP:0012562", + "Premature epimetaphyseal fusion in foot": "HP:0012563", + "Premature epimetaphyseal fusion in tibia": "HP:0012564", + "Premature epimetaphyseal fusion in fibula": "HP:0012565", + "Premature epimetaphyseal fusion in radius": "HP:0012566", + "Premature epimetaphyseal fusion in ulna": "HP:0012567", + "Lower eyelid edema": "HP:0012568", + "Cellulitis of lower eyelid": "HP:0012568", + "Fullness of lower eyelid": "HP:0012568", + "Lower eyelid oedema": "HP:0012568", + "Puffiness of lower eyelid": "HP:0012568", + "Swelling of lower eyelid": "HP:0012568", + "Delayed menarche": "HP:0012569", + "Delayed start of first period": "HP:0012569", + "Synovial sarcoma": "HP:0012570", + "Malignant synovioma": "HP:0012570", + "Ureter fissus": "HP:0012571", + "Partially duplicated ureter": "HP:0012571", + "Ureter duplex": "HP:0012572", + "Global proximal tubulopathy": "HP:0012573", + "Mesangial hypercellularity": "HP:0012574", + "Mesangial proliferation": "HP:0012574", + "Abnormal nephron morphology": "HP:0012575", + "Abnormality of the nephron": "HP:0012575", + "Glomerular C3 deposition": "HP:0012576", + "Renal C3 deposition": "HP:0012576", + "C3 nephropathy": "HP:0012576", + "Thin glomerular basement membrane": "HP:0012577", + "Membranous nephropathy": "HP:0012578", + "Membranous glomerulonephritis": "HP:0012578", + "Minimal change glomerulonephritis": "HP:0012579", + "Minimal change disease": "HP:0012579", + "Minimal change nephropathy": "HP:0012579", + "Calcium phosphate nephrolithiasis": "HP:0012580", + "Ca phosphate nephrolithiasis": "HP:0012580", + "Ca phosphate urolithiasis": "HP:0012580", + "Ca2+ phosphate nephrolitiasis": "HP:0012580", + "Ca2+ phosphate urolithiasis": "HP:0012580", + "Calcium phosphate urolithiasis": "HP:0012580", + "Simple renal cyst": "HP:0012581", + "Simple kidney cyst": "HP:0012581", + "Solitary renal cyst": "HP:0012581", + "single cortical cyst": "HP:0012581", + "Bilateral renal dysplasia": "HP:0012582", + "Unilateral renal hypoplasia": "HP:0012583", + "Small kidney on one side": "HP:0012583", + "Underdeveloped kidney on one side": "HP:0012583", + "Bilateral renal hypoplasia": "HP:0012584", + "Renal atrophy": "HP:0012585", + "Kidney degeneration": "HP:0012585", + "Bilateral renal atrophy": "HP:0012586", + "Bilateral kidney degeneration": "HP:0012586", + "Macroscopic hematuria": "HP:0012587", + "Bloody urine": "HP:0012587", + "Gross hematuria": "HP:0012587", + "Steroid-resistant nephrotic syndrome": "HP:0012588", + "SRNS": "HP:0012588", + "Multidrug-resistant nephrotic syndrome": "HP:0012589", + "Abnormal urine output": "HP:0012590", + "Abnormal urinary electrolyte concentration": "HP:0012591", + "Urinary electrolyte imbalance": "HP:0012591", + "Albuminuria": "HP:0012592", + "Nephrotic range proteinuria": "HP:0012593", + "Moderate albuminuria": "HP:0012594", + "High urine albumin levels": "HP:0012594", + "Microalbuminuria": "HP:0012594", + "Mild proteinuria": "HP:0012595", + "Moderate proteinuria": "HP:0012596", + "Heavy proteinuria": "HP:0012597", + "Severely high blood protein levels": "HP:0012597", + "Abnormal urine potassium concentration": "HP:0012598", + "Abnormal urine K concentration": "HP:0012598", + "Abnormal urine phosphate concentration": "HP:0012599", + "Abnormal urine chloride concentration": "HP:0012600", + "Abnormal urine Cl concentration": "HP:0012600", + "Abnormal urine Cl- concentration": "HP:0012600", + "Hypochloriduria": "HP:0012601", + "Decreased urinary chloride": "HP:0012601", + "Low urine chloride levels": "HP:0012601", + "Renal chloride wasting": "HP:0012602", + "Kidney chloride wasting": "HP:0012602", + "Renal Cl wasting": "HP:0012602", + "Renal Cl- wasting": "HP:0012602", + "Abnormal urine sodium concentration": "HP:0012603", + "Abnormal urine Na concentration": "HP:0012603", + "Abnormal urine Na+ levels": "HP:0012603", + "Hyponatriuria": "HP:0012604", + "Low urine sodium levels": "HP:0012604", + "Hypernatriuria": "HP:0012605", + "Increased urinary sodium": "HP:0012605", + "Renal sodium wasting": "HP:0012606", + "Kidney sodium wasting": "HP:0012606", + "Renal Na wasting": "HP:0012606", + "Renal Na+ wasting": "HP:0012606", + "Abnormal urine magnesium concentration": "HP:0012607", + "Hypermagnesiuria": "HP:0012608", + "Hypomagnesiuria": "HP:0012609", + "Decreased urine magnesium": "HP:0012609", + "Low urine magnesium levels": "HP:0012609", + "Abnormality of urinary uric acid level": "HP:0012610", + "obsolete Increased urinary urate": "HP:0012611", + "Abnormal urinary sulfate concentration": "HP:0012612", + "Abnormal urinary sulphate concentration": "HP:0012612", + "Increased urinary sulfate": "HP:0012613", + "Increased urinary sulphate": "HP:0012613", + "Abnormal urine cytology": "HP:0012614", + "Cylindruria": "HP:0012615", + "Urinary casts": "HP:0012615", + "Leukocyte cylindruria": "HP:0012616", + "White blood cell casts": "HP:0012616", + "Erythrocyte cylindruria": "HP:0012617", + "Red blood cell casts": "HP:0012617", + "Urinary erythrocyte cast": "HP:0012617", + "Urachal cyst": "HP:0012618", + "Multiple bladder diverticula": "HP:0012619", + "Multiple pouches in bladder wall": "HP:0012619", + "Cloacal abnormality": "HP:0012620", + "Persistent cloaca": "HP:0012621", + "Cloacogenic bladder": "HP:0012621", + "Chronic kidney disease": "HP:0012622", + "CKD": "HP:0012622", + "Loss of renal function": "HP:0012622", + "Progressive renal failure": "HP:0012622", + "Progressive renal insufficiency": "HP:0012622", + "Renal failure, progressive": "HP:0012622", + "Renal insufficiency, progressive": "HP:0012622", + "Stage 1 chronic kidney disease": "HP:0012623", + "Stage 2 chronic kidney disease": "HP:0012624", + "Stage 3 chronic kidney disease": "HP:0012625", + "Stage 4 chronic kidney disease": "HP:0012626", + "Pseudoexfoliation": "HP:0012627", + "Abnormal suspensory ligament of lens morphology": "HP:0012628", + "Abnormality of the suspensory ligament of lens": "HP:0012628", + "Abnormality of zinn's membrane": "HP:0012628", + "Ciliary zonule abnormality": "HP:0012628", + "Zonule of zinn abnormality": "HP:0012628", + "Phakodonesis": "HP:0012629", + "Phacodonesis": "HP:0012629", + "Trembling eye lens": "HP:0012629", + "Abnormal trabecular meshwork morphology": "HP:0012630", + "Abnormality of the trabecular meshwork": "HP:0012630", + "Pigment deposition in the trabecular meshwork": "HP:0012631", + "Abnormal intraocular pressure": "HP:0012632", + "Abnormal eye pressure": "HP:0012632", + "Asymmetry of intraocular pressure": "HP:0012633", + "Iris pigment dispersion": "HP:0012634", + "Iris hypoperfusion": "HP:0012635", + "Retinal vein occlusion": "HP:0012636", + "Renal calcium wasting": "HP:0012637", + "Kidney Ca wasting": "HP:0012637", + "Kidney Ca2+ wasting": "HP:0012637", + "Kidney calcium wasting": "HP:0012637", + "Renal Ca wasting": "HP:0012637", + "Renal Ca2+ wasting": "HP:0012637", + "Abnormal nervous system physiology": "HP:0012638", + "Abnormality of nervous system physiology": "HP:0012638", + "Abnormal nervous system morphology": "HP:0012639", + "Abnormal shape of nervous system": "HP:0012639", + "Abnormality of nervous system morphology": "HP:0012639", + "Abnormality of intracranial pressure": "HP:0012640", + "Decreased intracranial pressure": "HP:0012641", + "Intracranial hypotension": "HP:0012641", + "Cerebellar agenesis": "HP:0012642", + "Foveal hypopigmentation": "HP:0012643", + "Increased caudate lactate level": "HP:0012644", + "Enlarged peripheral nerve": "HP:0012645", + "Enlarged peripheral nerves": "HP:0012645", + "Retractile testis": "HP:0012646", + "Retractile testicle": "HP:0012646", + "Abnormal inflammatory response": "HP:0012647", + "Decreased inflammatory response": "HP:0012648", + "Increased inflammatory response": "HP:0012649", + "Perisylvian polymicrogyria": "HP:0012650", + "Frontoparietal polymicrogyria": "HP:0012650", + "Abasia": "HP:0012651", + "Exercise-induced asthma": "HP:0012652", + "Status asthmaticus": "HP:0012653", + "Acute severe asthma": "HP:0012653", + "Abnormal CSF dopamine concentration": "HP:0012654", + "Abnormal CSF dopamine level": "HP:0012654", + "Elevated CSF dopamine concentration": "HP:0012655", + "Reduced CSF dopamine concentration": "HP:0012656", + "Abnormal brain positron emission tomography": "HP:0012657", + "Abnormal brain PET scan": "HP:0012657", + "Abnormal brain FDG positron emission tomography": "HP:0012658", + "Abnormal brain FDG PET scan": "HP:0012658", + "Prefrontal hypometabolism in FDG PET": "HP:0012659", + "Thalamic hypometabolism in FDG PET": "HP:0012660", + "Hypothalamic hypometabolism in FDG PET": "HP:0012661", + "Parietal hypometabolism in FDG PET": "HP:0012662", + "Mildly reduced left ventricular ejection fraction": "HP:0012663", + "Mildly reduced ejection fraction": "HP:0012663", + "Reduced left ventricular ejection fraction": "HP:0012664", + "Reduced ejection fraction": "HP:0012664", + "Moderately reduced left ventricular ejection fraction": "HP:0012665", + "Moderately reduced ejection fraction": "HP:0012665", + "Severely reduced left ventricular ejection fraction": "HP:0012666", + "Severely reduced ejection fraction": "HP:0012666", + "Regional left ventricular wall motion abnormality": "HP:0012667", + "Vasovagal syncope": "HP:0012668", + "Neurocardiogenic syncope": "HP:0012668", + "Reflex syncope": "HP:0012668", + "Situational syncope": "HP:0012668", + "Vasovagal episode": "HP:0012668", + "Carotid sinus syncope": "HP:0012669", + "Orthostatic syncope": "HP:0012670", + "Abulia": "HP:0012671", + "Aboulia": "HP:0012671", + "Akinetic mutism": "HP:0012672", + "Stuporous mutism": "HP:0012672", + "Aplasia of the upper vagina": "HP:0012673", + "Absent upper vagina": "HP:0012673", + "Aplasia of the lower vagina": "HP:0012674", + "Absent lower vagina": "HP:0012674", + "Agenesis of the lower vagina": "HP:0012674", + "Iron accumulation in brain": "HP:0012675", + "Brain iron deposition": "HP:0012675", + "Copper accumulation in brain": "HP:0012676", + "Brain copper accumulation": "HP:0012676", + "obsolete Iron accumulation in globus pallidus": "HP:0012677", + "Iron accumulation in substantia nigra": "HP:0012678", + "Widened interpedicular distance": "HP:0012679", + "Abnormality of the pineal gland": "HP:0012680", + "Abnormal pineal morphology": "HP:0012681", + "Abnormality of pineal morphology": "HP:0012681", + "Pineal gland calcification": "HP:0012682", + "Pineal cyst": "HP:0012683", + "Abnormal pineal volume": "HP:0012684", + "Decreased pineal volume": "HP:0012685", + "Increased pineal volume": "HP:0012686", + "Agenesis of pineal gland": "HP:0012687", + "Abnormality of pineal physiology": "HP:0012688", + "Abnormal pineal melatonin secretion": "HP:0012689", + "T2 hypointense thalamus": "HP:0012690", + "Focal T2 hypointense thalamic lesion": "HP:0012691", + "Focal T2 hyperintense thalamic lesion": "HP:0012692", + "Abnormal thalamic size": "HP:0012693", + "Enlarged thalamic volume": "HP:0012694", + "Decreased thalamic volume": "HP:0012695", + "Abnormal thalamic MRI signal intensity": "HP:0012696", + "Small basal ganglia": "HP:0012697", + "Cerebellar gliosis": "HP:0012698", + "Anomaly of lower limb diaphyses": "HP:0012699", + "Anomaly of shaft of long bone of lower limb": "HP:0012699", + "Abnormal large intestine physiology": "HP:0012700", + "Bowel urgency": "HP:0012701", + "Faecal urgency": "HP:0012701", + "Fecal urgency": "HP:0012701", + "Tenesmus": "HP:0012702", + "Abnormal subarachnoid space morphology": "HP:0012703", + "Abnormality of the subarachnoid space": "HP:0012703", + "Widened subarachnoid space": "HP:0012704", + "Enlarged subarachnoid space": "HP:0012704", + "Widened subarachnoid spaces": "HP:0012704", + "Abnormal metabolic brain imaging by MRS": "HP:0012705", + "Elevated brain choline level by MRS": "HP:0012706", + "Elevated brain lactate level by MRS": "HP:0012707", + "Reduced brain N-acetyl aspartate level by MRS": "HP:0012708", + "MR Spectroscopy: N-acetylaspartate low in brain": "HP:0012708", + "Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy": "HP:0012708", + "Abnormal brain choline/creatine ratio by MRS": "HP:0012709", + "Ingrown nail": "HP:0012710", + "Delayed ossification of vertebral epiphysis": "HP:0012711", + "Delayed maturation of the end part of the vertebral bone": "HP:0012711", + "Mild hearing impairment": "HP:0012712", + "Moderate hearing impairment": "HP:0012713", + "Severe hearing impairment": "HP:0012714", + "Severe deafness": "HP:0012714", + "Severe hearing loss": "HP:0012714", + "Profound hearing impairment": "HP:0012715", + "Moderate conductive hearing impairment": "HP:0012716", + "Conductive hearing loss, moderate": "HP:0012716", + "Severe conductive hearing impairment": "HP:0012717", + "Conductive hearing loss, severe": "HP:0012717", + "Abnormal gastrointestinal tract morphology": "HP:0012718", + "Abnormal shape of the digestive system": "HP:0012718", + "Morphological abnormality of the GI tract": "HP:0012718", + "Morphological abnormality of the gastrointestinal tract": "HP:0012718", + "Morphological anomaly of the digestive system": "HP:0012718", + "Functional abnormality of the gastrointestinal tract": "HP:0012719", + "Functional abnormality of the GI tract": "HP:0012719", + "GI dysfunction": "HP:0012719", + "Neoplasm of the nose": "HP:0012720", + "Nasal neoplasm": "HP:0012720", + "Nasal tumor": "HP:0012720", + "Nasal tumour": "HP:0012720", + "Neoplasia of the nose": "HP:0012720", + "Nose cancer": "HP:0012720", + "Tumor of the nose": "HP:0012720", + "Tumour of the nose": "HP:0012720", + "Venous malformation": "HP:0012721", + "Venous malformations": "HP:0012721", + "Heart block": "HP:0012722", + "Sinoatrial block": "HP:0012723", + "Upper eyelid edema": "HP:0012724", + "Cellulitis of upper eyelid": "HP:0012724", + "Fullness of upper eyelid": "HP:0012724", + "Puffiness of upper eyelid": "HP:0012724", + "Swelling of upper eyelid": "HP:0012724", + "Upper eyelid oedema": "HP:0012724", + "Cutaneous syndactyly": "HP:0012725", + "Cutaneous syndactyly of digits": "HP:0012725", + "Syndactyly, cutaneous": "HP:0012725", + "Episodic hypokalemia": "HP:0012726", + "Recurrent low potassium": "HP:0012726", + "Thoracic aortic aneurysm": "HP:0012727", + "Dilatation of the thoracic aorta": "HP:0012727", + "Fusiform descending thoracic aortic aneurysm": "HP:0012728", + "Dilatation of the fusiform descending thoracic aorta": "HP:0012728", + "Saccular descending thoracic aortic aneurysm": "HP:0012729", + "Dilatation of the saccular descending thoracic aorta": "HP:0012729", + "Aglossia": "HP:0012730", + "Missing tongue": "HP:0012730", + "Absence of tongue": "HP:0012730", + "Failure of development of tongue": "HP:0012730", + "Ectopic anterior pituitary gland": "HP:0012731", + "Anorectal anomaly": "HP:0012732", + "Macule": "HP:0012733", + "Flat, discolored area of skin": "HP:0012733", + "Flat, discoloured area of skin": "HP:0012733", + "Ketotic hypoglycemia": "HP:0012734", + "Ketotic low blood sugar": "HP:0012734", + "Cough": "HP:0012735", + "Coughing": "HP:0012735", + "Profound global developmental delay": "HP:0012736", + "Global developmental delay, profound": "HP:0012736", + "Psychomotor retardation, profound": "HP:0012736", + "Small intestinal polyp": "HP:0012737", + "Agenesis of canine": "HP:0012738", + "Absent canines": "HP:0012738", + "Failure of development of canine": "HP:0012738", + "Failure of development of eye tooth": "HP:0012738", + "Absence of canine": "HP:0012738", + "Absence of eye tooth": "HP:0012738", + "Missing canine": "HP:0012738", + "Missing eye tooth": "HP:0012738", + "Agenesis of the small intestine": "HP:0012739", + "Small bowel agenesis": "HP:0012739", + "Undeveloped small intestine": "HP:0012739", + "Papilloma": "HP:0012740", + "Unilateral cryptorchidism": "HP:0012741", + "Cryptorchidism, unilateral": "HP:0012741", + "Thin fingernail": "HP:0012742", + "Abdominal obesity": "HP:0012743", + "Central obesity": "HP:0012743", + "Femoral aplasia": "HP:0012744", + "Absent femur": "HP:0012744", + "Absent thighbone": "HP:0012744", + "Aplasia of the femur": "HP:0012744", + "Short palpebral fissure": "HP:0012745", + "Decreased height of palpebral fissure": "HP:0012745", + "Short opening between the eyelids": "HP:0012745", + "Short palpebral fissures": "HP:0012745", + "Thin toenail": "HP:0012746", + "Thin toenails": "HP:0012746", + "Abnormal brainstem MRI signal intensity": "HP:0012747", + "Focal T2 hyperintense brainstem lesion": "HP:0012748", + "Focal T2 hypointense brainstem lesion": "HP:0012749", + "T2 hypointense brainstem": "HP:0012750", + "Abnormal basal ganglia MRI signal intensity": "HP:0012751", + "Focal T2 hypointense basal ganglia lesion": "HP:0012752", + "T2 hypointense basal ganglia": "HP:0012753", + "CNS hypermyelination": "HP:0012754", + "Enlarged brainstem": "HP:0012755", + "CSF polymorphonuclear pleocytosis": "HP:0012756", + "Abnormal neuron morphology": "HP:0012757", + "Abnormal neuron shape": "HP:0012757", + "Abnormal neuronal morphology": "HP:0012757", + "Neurodevelopmental delay": "HP:0012758", + "NDD": "HP:0012758", + "Neurodevelopmental abnormality": "HP:0012759", + "Reduced social responsiveness": "HP:0012760", + "Impaired social interaction": "HP:0012760", + "Impaired social interactions": "HP:0012760", + "Impaired social reciprocity": "HP:0012760", + "Poor social interactions": "HP:0012760", + "Reduced friendship reciprocity": "HP:0012760", + "Reduced social reciprocity": "HP:0012760", + "Absent mastoid": "HP:0012761", + "Absent mastoids": "HP:0012761", + "Failure of development of mastoid": "HP:0012761", + "Mastoid agenesis": "HP:0012761", + "Cerebral white matter atrophy": "HP:0012762", + "Paroxysmal dyspnea": "HP:0012763", + "Paroxysmal dyspnoea": "HP:0012763", + "Orthopnea": "HP:0012764", + "Widened cerebellar subarachnoid space": "HP:0012765", + "Widened cerebral subarachnoid space": "HP:0012766", + "Abnormal placental size": "HP:0012767", + "Neonatal asphyxia": "HP:0012768", + "Asphyxia neonatorum": "HP:0012768", + "Abnormal arm span": "HP:0012769", + "Reduced arm span": "HP:0012770", + "Increased arm span": "HP:0012771", + "Abnormal upper to lower segment ratio": "HP:0012772", + "Reduced upper to lower segment ratio": "HP:0012773", + "Increased upper to lower segment ratio": "HP:0012774", + "Stellate iris": "HP:0012775", + "Abnormal ciliary body morphology": "HP:0012776", + "Abnormality of the ciliary body": "HP:0012776", + "Retinal neoplasm": "HP:0012777", + "Retinal astrocytic hamartoma": "HP:0012778", + "Transient hearing impairment": "HP:0012779", + "Neoplasm of the ear": "HP:0012780", + "Ear tumor": "HP:0012780", + "Ear tumour": "HP:0012780", + "Mid-frequency hearing loss": "HP:0012781", + "Perilobar nephrogenic rest": "HP:0012782", + "Perilobar nephrogenic rests": "HP:0012782", + "Intralobar nephrogenic rest": "HP:0012783", + "Intralobar nephrogenic rests": "HP:0012783", + "Perinephritis": "HP:0012784", + "Flexion contracture of finger": "HP:0012785", + "Flexion deformity of finger": "HP:0012785", + "Recurrent cystitis": "HP:0012786", + "Recurrent bladder infections": "HP:0012786", + "Recurrent pyelonephritis": "HP:0012787", + "Reticulate pigmentation of oral mucosa": "HP:0012788", + "Mottled pigmentation of oral mucosa": "HP:0012788", + "Reticulate pigmentation of oral mucous membrane": "HP:0012788", + "Hypoplasia of the calcaneus": "HP:0012789", + "Hypoplastic calcaneus": "HP:0012789", + "Small heel bone": "HP:0012789", + "Underdeveloped heel bone": "HP:0012789", + "Abnormal intramembranous ossification": "HP:0012790", + "Abnormal intramembranous bone ossification": "HP:0012790", + "Abnormal humeral ossification": "HP:0012791", + "Abnormal maturation of long bone in upper arm": "HP:0012791", + "Absent ossification of thoracic vertebral bodies": "HP:0012792", + "Kinked brainstem": "HP:0012793", + "Kinked brain stem": "HP:0012793", + "Periventricular white matter hypodensities": "HP:0012794", + "Periventricular cerebral white matter hypodensities": "HP:0012794", + "Abnormal optic disc morphology": "HP:0012795", + "Increased cup-to-disc ratio": "HP:0012796", + "Elevated cup to disc ratio": "HP:0012796", + "Elevated cup to disk ratio": "HP:0012796", + "Increased cup disc ratio": "HP:0012796", + "Increased cup disk ratio": "HP:0012796", + "Optic cupping": "HP:0012796", + "Lymphatic vessel neoplasm": "HP:0012797", + "Lymphatic vessel tumor": "HP:0012797", + "Lymphatic vessel tumour": "HP:0012797", + "Pulmonary lymphangiomyomatosis": "HP:0012798", + "Pulmonary myomatosis": "HP:0012798", + "Lymphangioleiomyomatosis": "HP:0012798", + "Unilateral facial palsy": "HP:0012799", + "Facial droop": "HP:0012799", + "Paralysis of one side of the face": "HP:0012799", + "Unilateral facial muscle paralysis": "HP:0012799", + "Unilateral facial muscle weakness": "HP:0012799", + "Unilateral facial paralysis": "HP:0012799", + "Unilateral facial weakness": "HP:0012799", + "Weakness of one side of the face": "HP:0012799", + "Accessory cranial suture": "HP:0012800", + "Extra cranial suture": "HP:0012800", + "Supernumary cranial suture": "HP:0012800", + "Accessory fontanelle": "HP:0012800", + "Extra fontanelle": "HP:0012800", + "Supernumary fontanelle": "HP:0012800", + "Narrow jaw": "HP:0012801", + "Narrow lower face": "HP:0012801", + "Narrow lower jaw": "HP:0012801", + "Narrow mandible": "HP:0012801", + "Thin lower face": "HP:0012801", + "Thin lower jaw": "HP:0012801", + "Broad jaw": "HP:0012802", + "Broad lower face": "HP:0012802", + "Broad mandible": "HP:0012802", + "Wide jaw": "HP:0012802", + "Wide mandible": "HP:0012802", + "Anisometropia": "HP:0012803", + "Corneal ulceration": "HP:0012804", + "Corneal ulcer": "HP:0012804", + "Corneal ulcerations": "HP:0012804", + "Iris transillumination defect": "HP:0012805", + "Proboscis": "HP:0012806", + "High insertion of columella": "HP:0012807", + "Ala lower than columella": "HP:0012807", + "Columella, high insertion": "HP:0012807", + "Abnormal nasal base norphology": "HP:0012808", + "Abnormal nasal base": "HP:0012808", + "Abnormality of base of nose": "HP:0012808", + "Anomaly of base of nose": "HP:0012808", + "Anomaly of nasal base": "HP:0012808", + "Deformity of base of nose": "HP:0012808", + "Deformity of nasal base": "HP:0012808", + "Malformation of base of nose": "HP:0012808", + "Malformation of nasal base": "HP:0012808", + "Narrow nasal base": "HP:0012809", + "Decreased width of base of nose": "HP:0012809", + "Decreased width of nasal base": "HP:0012809", + "Narrow base of nose": "HP:0012809", + "Thin base of nose": "HP:0012809", + "Thin nasal base": "HP:0012809", + "Wide nasal base": "HP:0012810", + "Broad base of nose": "HP:0012810", + "Broad nasal base": "HP:0012810", + "Increased width of base of nose": "HP:0012810", + "Increased width of nasal base": "HP:0012810", + "Wide base of nose": "HP:0012810", + "Wide nasal ridge": "HP:0012811", + "Broad dorsum of nose": "HP:0012811", + "Broad nasal dorsum": "HP:0012811", + "Increased width of dorsum of nose": "HP:0012811", + "Increased width of nasal dorsum": "HP:0012811", + "Increased width of nasal ridge": "HP:0012811", + "Nasal ridge, wide": "HP:0012811", + "Wide dorsum of nose": "HP:0012811", + "Wide nasal dorsum": "HP:0012811", + "Broad nasal ridge": "HP:0012811", + "Fullness of paranasal tissue": "HP:0012812", + "Fullness of tissue around the nose": "HP:0012812", + "Laterally built up nose": "HP:0012812", + "Paranasal fullness": "HP:0012812", + "Thick paranasal tissue": "HP:0012812", + "Thick tissue around the nose": "HP:0012812", + "Hyperplasia of paranasal tissue": "HP:0012812", + "Hypertrophy of paranasal tissue": "HP:0012812", + "Unilateral breast hypoplasia": "HP:0012813", + "One underdeveloped breast": "HP:0012813", + "Bilateral breast hypoplasia": "HP:0012814", + "Two underdeveloped breasts": "HP:0012814", + "Hypoplastic female external genitalia": "HP:0012815", + "Underdeveloped female external genitalia": "HP:0012815", + "Right ventricular noncompaction cardiomyopathy": "HP:0012816", + "Noncompaction cardiomyopathy": "HP:0012817", + "Noncompaction of the ventricular myocardium": "HP:0012817", + "Spongiform cardiomyopathy": "HP:0012817", + "Biventricular noncompaction cardiomyopathy": "HP:0012818", + "Myocarditis": "HP:0012819", + "Inflammation of heart muscle": "HP:0012819", + "Bilateral vocal cord paralysis": "HP:0012820", + "Unilateral vocal cord paresis": "HP:0012821", + "Bilateral vocal cord paresis": "HP:0012822", + "Clinical modifier": "HP:0012823", + "Phenotypic modifier": "HP:0012823", + "Severity": "HP:0012824", + "Intensity": "HP:0012824", + "Mild": "HP:0012825", + "Moderate": "HP:0012826", + "Borderline": "HP:0012827", + "Severe": "HP:0012828", + "Profound": "HP:0012829", + "Position": "HP:0012830", + "Laterality": "HP:0012831", + "Bilateral": "HP:0012832", + "Unilateral": "HP:0012833", + "Right": "HP:0012834", + "Right-sided": "HP:0012834", + "Left": "HP:0012835", + "Left-sided": "HP:0012835", + "Spatial pattern": "HP:0012836", + "Generalized": "HP:0012837", + "Generalised": "HP:0012837", + "Localized": "HP:0012838", + "Localised": "HP:0012838", + "Distal": "HP:0012839", + "Outermost": "HP:0012839", + "Proximal": "HP:0012840", + "Retinal vascular tortuosity": "HP:0012841", + "Tortuous retinal vessels": "HP:0012841", + "Skin appendage neoplasm": "HP:0012842", + "Skin adnexal neoplasm": "HP:0012842", + "Skin adnexal tumor": "HP:0012842", + "Skin adnexal tumour": "HP:0012842", + "Hair follicle neoplasm": "HP:0012843", + "Trichilemmoma": "HP:0012844", + "Tricholemmoma": "HP:0012844", + "Single trichilemmoma": "HP:0012845", + "Multiple trichilemmomata": "HP:0012846", + "Multiple trichilemmomas": "HP:0012846", + "Epilepsia partialis continua": "HP:0012847", + "Epilepsia partialis continua of Kojevnikov": "HP:0012847", + "Kojevnikov's epilepsia": "HP:0012847", + "Kozhevnikov's epilepsia": "HP:0012847", + "Small intestinal stenosis": "HP:0012848", + "Narrowing of small intestine": "HP:0012848", + "Small intestinal bleeding": "HP:0012849", + "Small intestinal haemorrhage": "HP:0012849", + "Small intestinal hemorrhage": "HP:0012849", + "Small intestinal dysmotility": "HP:0012850", + "Colonic stenosis": "HP:0012851", + "Narrowing of the colon": "HP:0012851", + "Stenosis of the colon": "HP:0012851", + "Hepatic bridging fibrosis": "HP:0012852", + "Scrotal hypospadias": "HP:0012853", + "Midshaft hypospadias": "HP:0012854", + "Scrotal hyperpigmentation": "HP:0012855", + "Hyperpigmentation of the scrotum": "HP:0012855", + "Hyperpigmented scrotum": "HP:0012855", + "Increased pigmentation in scrotum": "HP:0012855", + "Abnormal scrotal rugation": "HP:0012856", + "Increased scrotal rugation": "HP:0012857", + "Decreased scrotal rugation": "HP:0012858", + "Esophageal leukoplakia": "HP:0012859", + "Esophageal epidermoid metaplasia": "HP:0012859", + "Testicular fibrosis": "HP:0012860", + "Fibrotic testes": "HP:0012860", + "Fibrotic testicle": "HP:0012860", + "Ovotestis": "HP:0012861", + "Abnormal germ cell morphology": "HP:0012862", + "Abnormal shape of a reproductive cell": "HP:0012862", + "Abnormally shaped germ cell": "HP:0012862", + "Abnormally shaped reproductive cell": "HP:0012862", + "Abnormal male germ cell morphology": "HP:0012863", + "Abnormal sperm morphology": "HP:0012864", + "Abnormal shape of sperm": "HP:0012864", + "Teratospermia": "HP:0012864", + "Teratozoospermia": "HP:0012864", + "Abnormal sperm head morphology": "HP:0012865", + "Sperm head anomaly": "HP:0012865", + "Abnormal sperm neck morphology": "HP:0012866", + "Sperm neck anomaly": "HP:0012866", + "Abnormal sperm mid-piece morphology": "HP:0012867", + "Sperm mid-piece anomaly": "HP:0012867", + "Abnormal sperm tail morphology": "HP:0012868", + "Sperm tail anomaly": "HP:0012868", + "Acephalic spermatozoa": "HP:0012869", + "Vanishing testis": "HP:0012870", + "Testicular regression syndrome": "HP:0012870", + "Varicocele": "HP:0012871", + "Vaginal varicocele": "HP:0012871", + "Abnormal vas deferens morphology": "HP:0012872", + "Absent vas deferens": "HP:0012873", + "Absent deferent duct": "HP:0012873", + "Absent ductus deferens": "HP:0012873", + "Congenital absence of the vas deferens": "HP:0012873", + "Abnormal male reproductive system physiology": "HP:0012874", + "Abnormal male genital system physiology": "HP:0012874", + "Abnormal ejaculation": "HP:0012875", + "Premature ejaculation": "HP:0012876", + "Retrograde ejaculation": "HP:0012877", + "Retarded ejaculation": "HP:0012878", + "Delayed ejaculation": "HP:0012878", + "Anejaculation": "HP:0012879", + "Ejaculatory incompetence": "HP:0012879", + "Abnormal labia minora morphology": "HP:0012880", + "Abnormality of the inner vaginal lips": "HP:0012880", + "Abnormality of the labia minora": "HP:0012880", + "Abnormal labia majora morphology": "HP:0012881", + "Abnormality of the labia majora": "HP:0012881", + "Abnormality of vaginal lips": "HP:0012881", + "Hyperplastic labia majora": "HP:0012882", + "Enlarged labia majora": "HP:0012882", + "Hyperplasia of labia majora": "HP:0012882", + "Fallopian tube cyst": "HP:0012883", + "Fallopian tube torsion": "HP:0012884", + "Twisted fallopian tube": "HP:0012884", + "Fallopian tube duplication": "HP:0012885", + "Accessory fallopian tube": "HP:0012885", + "Hemorrhagic ovarian cyst": "HP:0012886", + "Ovarian serous cystadenoma": "HP:0012887", + "Serous ovarian cyst": "HP:0012887", + "Abnormal uterine cervix morphology": "HP:0012888", + "Abnormality of the uterine cervix": "HP:0012888", + "Cervical endometriosis": "HP:0012889", + "Posteriorly placed anus": "HP:0012890", + "High posterior hairline": "HP:0012891", + "High hairline at back of head": "HP:0012891", + "Facial muscle hypertrophy": "HP:0012892", + "Increased size of facial muscles": "HP:0012892", + "Large facial muscles": "HP:0012892", + "Hyperplasia of facial muscles": "HP:0012892", + "Neck muscle hypertrophy": "HP:0012893", + "Increased size of neck muscles": "HP:0012893", + "Hypertrophy of cervical muscles": "HP:0012893", + "Large neck muscles": "HP:0012893", + "Overgrowth of neck muscles": "HP:0012893", + "Hyperplasia of neck muscles": "HP:0012893", + "Paraspinal muscle hypertrophy": "HP:0012894", + "Scapular muscle hypertrophy": "HP:0012895", + "Abnormal motor evoked potentials": "HP:0012896", + "Abnormal upper-limb motor evoked potentials": "HP:0012897", + "Abnormal motor evoked potentials in the upper limb": "HP:0012897", + "Abnormal lower-limb motor evoked potentials": "HP:0012898", + "Abnormal motor evoked potentials in the lower limb": "HP:0012898", + "Handgrip myotonia": "HP:0012899", + "Grip myotonia": "HP:0012899", + "Myotonia of the face": "HP:0012900", + "Myotonia of the jaw": "HP:0012901", + "Myotonia of the lower limb": "HP:0012902", + "Myotonia of the upper limb": "HP:0012903", + "Cold-sensitive myotonia": "HP:0012904", + "Euryblepharon": "HP:0012905", + "Kabuki syndrome eyelids": "HP:0012905", + "Ciliary body coloboma": "HP:0020006", + "Diffuse": "HP:0020034", + "Lower limb dysmetria": "HP:0020035", + "Upper limb dysmetria": "HP:0020036", + "Astasia": "HP:0020037", + "Vertebrobasilar dolichoectasia": "HP:0020038", + "Double elevator palsy": "HP:0020041", + "Double depressor palsy": "HP:0020042", + "Vertical incomitant strabismus": "HP:0020043", + "Horizontal incomitant strabismus": "HP:0020044", + "Esodeviation": "HP:0020045", + "Convergent squint": "HP:0020045", + "Convergent strabismus": "HP:0020045", + "Accommodative esotropia": "HP:0020046", + "Abnormal myeloid cell morphology": "HP:0020047", + "Reduced bone-marrow pro-B cell count": "HP:0020048", + "Exodeviation": "HP:0020049", + "Divergent strabismus": "HP:0020049", + "Anti-granulocyte-macrophage colony stimulating factor antibody positivity": "HP:0020050", + "Anti-GM-CSF antibody positivity": "HP:0020050", + "Abnormal erythrocyte physiology": "HP:0020054", + "Abnormal red blood cell count": "HP:0020058", + "Abnormal RBC count": "HP:0020058", + "Increased red blood cell count": "HP:0020059", + "Increased RBC count": "HP:0020059", + "Decreased red blood cell count": "HP:0020060", + "Decreased RBC count": "HP:0020060", + "Abnormal hemoglobin concentration": "HP:0020061", + "Abnormal Hb concentration": "HP:0020061", + "Abnormal haemoglobin concentration": "HP:0020061", + "Decreased hemoglobin concentration": "HP:0020062", + "Decreased Hb concentration": "HP:0020062", + "Decreased haemoglobin concentration": "HP:0020062", + "obsolete Increased hemoglobin concentration": "HP:0020063", + "Abnormal eosinophil count": "HP:0020064", + "Viremia": "HP:0020071", + "Persistent EBV viremia": "HP:0020072", + "Hypopigmented macule": "HP:0020073", + "Crystalluria": "HP:0020074", + "Leucine crystalluria": "HP:0020075", + "Wrist ganglion": "HP:0020076", + "Ganglion cyst of the wrist": "HP:0020076", + "Carnitinuria": "HP:0020077", + "Carnitine high in urine": "HP:0020077", + "Alaninuria": "HP:0020078", + "Increased urinary alanine": "HP:0020078", + "Beta-alaninuria": "HP:0020079", + "Beta-alanine high in urine": "HP:0020079", + "Elevated urinary beta-alanine level": "HP:0020079", + "Hyper-beta-alaninuria": "HP:0020079", + "Erythrocyte inclusion bodies": "HP:0020080", + "Pappenheimer bodies": "HP:0020081", + "Heinz bodies": "HP:0020082", + "Furuncle": "HP:0020083", + "Boil": "HP:0020083", + "Carbuncle": "HP:0020084", + "Infection following live vaccination": "HP:0020085", + "BCGitis": "HP:0020086", + "BCGosis": "HP:0020087", + "BCGiosis": "HP:0020087", + "Disseminated Bacillus Calmette-Guerin infection": "HP:0020087", + "Post-vaccination measles": "HP:0020088", + "Vaccine associated measles": "HP:0020088", + "Post-vaccination rubella": "HP:0020089", + "Post-vaccination polio": "HP:0020090", + "Post-vaccination rotavirus infection": "HP:0020091", + "Recurrent deep organ abscess formation": "HP:0020093", + "Prolonged need of intravenous antibiotic therapy": "HP:0020095", + "Recurrent streptococcal infections": "HP:0020096", + "Infection due to encapsulated bacteria": "HP:0020097", + "obsolete Herpes encephalitis": "HP:0020098", + "Severe norovirus infection": "HP:0020099", + "Unusual fungal infection": "HP:0020100", + "Invasive fungal infection": "HP:0020101", + "Pneumocystis jirovecii pneumonia": "HP:0020102", + "Pneumocystis carinii pneumonia": "HP:0020102", + "Invasive pulmonary aspergillosis": "HP:0020103", + "Unusual protozoan infection": "HP:0020104", + "Severe toxoplasmosis": "HP:0020105", + "Severe giardiasis": "HP:0020106", + "Unusual helminthic infection": "HP:0020107", + "Unusual parasitic infection": "HP:0020108", + "Bone fracture": "HP:0020110", + "Abnormal CD4+CD25+ regulatory T cell proportion": "HP:0020111", + "Abnormal CD4+CD25+ Treg cell proportion": "HP:0020111", + "Increased proportion of CD4+CD25+ regulatory T cells": "HP:0020112", + "Elevated proportion of CD4+CD25+ regulatory T cells": "HP:0020112", + "Increased proportion of CD4+CD25+ Treg cells": "HP:0020112", + "Decreased proportion of CD4+CD25+ regulatory T cells": "HP:0020113", + "Decreased proportion of CD4+CD25+ Treg cells": "HP:0020113", + "Reduced proportion of CD4+CD25+ regulatory T cells": "HP:0020113", + "Persistent human papillomavirus infection": "HP:0020114", + "Chronic HPV infection": "HP:0020114", + "Persistent HPV infection": "HP:0020114", + "Hypoplastic dermoepidermal hemidesmosomes": "HP:0020117", + "Radial artery aplasia": "HP:0020118", + "Abnormal retinal nerve fiber layer morphology": "HP:0020119", + "Abnormal retinal nerve fibre layer morphology": "HP:0020119", + "Retinal nerve fiber edema": "HP:0020120", + "Retinal nerve fibre oedema": "HP:0020120", + "Conception by assisted reproductive technology": "HP:0020121", + "Bite cells": "HP:0020122", + "Blister cells": "HP:0020122", + "Degmacytes": "HP:0020122", + "Tympanosclerosis": "HP:0020123", + "Tympanic calcification": "HP:0020123", + "Spontaneous conjunctival filtering bleb": "HP:0020125", + "Conjunctival avascular cysts (filtering blebs)": "HP:0020125", + "Spontaneous filtering bleb": "HP:0020125", + "Prostate mass": "HP:0020126", + "Periarticular soft-tissue mass": "HP:0020127", + "Aplasia of the olfactory tract": "HP:0020128", + "Abnormal urine protein level": "HP:0020129", + "Increased urinary neutrophil gelatinase-associated lipocalin": "HP:0020130", + "Increased urinary NGAL": "HP:0020130", + "Abnormal tubular basement membrane morphology": "HP:0020131", + "Thickening of the tubular basement membrane": "HP:0020132", + "Podocyte hypertrophy": "HP:0020133", + "Glomerular visceral epithelial cell hypertrophy": "HP:0020133", + "Hypertrophy of visceral epithelial cells": "HP:0020133", + "Increased urine neutrophil count": "HP:0020134", + "Myofibromatosis": "HP:0020135", + "Anticardiolipin IgG antibody positivity": "HP:0020136", + "Anticardiolipin IgM antibody positivity": "HP:0020137", + "History of recent animal bite": "HP:0020138", + "History of recent insect bite": "HP:0020139", + "History of recent tick bite": "HP:0020140", + "Blood pressure substantially higher in legs than arms": "HP:0020141", + "Blood pressure substantially higher in lower than upper extremities": "HP:0020141", + "Blood pressure substantially lower in arms than legs": "HP:0020141", + "Blood pressure substantially lower in upper than lower extremities": "HP:0020141", + "Blood pressure substantially higher in arms than legs": "HP:0020142", + "Blood pressure substantially higher in upper than lower extremities": "HP:0020142", + "Increased arm-leg blood pressure gradient": "HP:0020142", + "Tracheal duplication cyst": "HP:0020143", + "Calcium phosphate crystalluria": "HP:0020144", + "Calcium oxalate crystalluria": "HP:0020145", + "Calcium carbonate crystalluria": "HP:0020146", + "2-Methylbutyryl glycinuria": "HP:0020147", + "Increased circulating mead acid level": "HP:0020148", + "Elevated circulating succinate": "HP:0020149", + "Elevated urinary uromodulin level": "HP:0020150", + "Elevated urinary Tamm-Horsfall protein concentration": "HP:0020150", + "Anti-dsDNA antibody positivity": "HP:0020151", + "Anti-double-stranded DNA antibody positivity": "HP:0020151", + "Distal joint hypermobility": "HP:0020152", + "Distal joint laxity": "HP:0020152", + "Positive blood 1,3 beta glucan test": "HP:0020153", + "Nevus comedonicus": "HP:0020154", + "Abnormal oocyte morphology": "HP:0020155", + "Abnormal zona pellucida morphology": "HP:0020156", + "Thin zona pellucida": "HP:0020157", + "Increased circulating adrenic acid concentration": "HP:0020158", + "Increased circulating docosatetraenoate level": "HP:0020158", + "Reduced response to gonadotropin-releasing hormone stimulation test": "HP:0020159", + "Reduce response to GnRH stimulation test": "HP:0020159", + "GM1-ganglioside accumulation": "HP:0020160", + "Branch retinal artery occlusion": "HP:0020161", + "Cilioretinal artery occlusion": "HP:0020163", + "Ophthalmic artery occlusion": "HP:0020164", + "Branch retinal vein occlusion": "HP:0020165", + "Central retinal vein occlusion": "HP:0020166", + "Hemiretinal vein occlusion": "HP:0020167", + "Abnormal drug response": "HP:0020169", + "Increased blood drug concentration": "HP:0020170", + "Elevated blood drug concentration": "HP:0020170", + "Elevated plasma drug concentration": "HP:0020170", + "Elevated serum drug concentrations": "HP:0020170", + "Increased plasma drug concentration": "HP:0020170", + "Increased serum drug concentration": "HP:0020170", + "Decreased blood drug concentration": "HP:0020171", + "Decreased plasma drug concentration": "HP:0020171", + "Decreased serum drug concentration": "HP:0020171", + "Reduced blood drug concentration": "HP:0020171", + "Reduced plasma drug concentration": "HP:0020171", + "Reduced serum drug concentrations": "HP:0020171", + "Adverse drug response": "HP:0020172", + "Adverse drug reaction": "HP:0020172", + "Drug-induced reaction": "HP:0020172", + "Drug-induced response": "HP:0020172", + "Toxic drug response": "HP:0020172", + "Reduced drug efficacy": "HP:0020173", + "Decreased drug efficacy": "HP:0020173", + "Refractory drug response": "HP:0020174", + "Drug resistance": "HP:0020174", + "Reduced circulating cholinesterase activity": "HP:0020175", + "Reduced cholinesterase level": "HP:0020175", + "Cholesterol crystalluria": "HP:0020176", + "Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells": "HP:0020177", + "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated": "HP:0020177", + "Abnormal dendritic cell count": "HP:0020178", + "Abnormal circulating haptoglobin concentration": "HP:0020179", + "Abnormal haptoglobin level": "HP:0020179", + "Elevated haptoglobin level": "HP:0020180", + "Reduced haptoglobin level": "HP:0020181", + "Abnormal circulating A-type atrial natriuretic peptide concentration": "HP:0020182", + "Abnormal A-type atrial natriuretic peptide level": "HP:0020182", + "Increased circulating A-type natriuretic peptide concentration": "HP:0020183", + "Increased circulating A-type natriuretic peptide level": "HP:0020183", + "Decreased circulating A-type natriuretic peptide concentration": "HP:0020184", + "Decreased circulating A-type natriuretic peptide level": "HP:0020184", + "Superior cerebellar dysplasia": "HP:0020185", + "Multilobulated spleen": "HP:0020186", + "Multi-lobulated spleen": "HP:0020186", + "Thick pachygyria": "HP:0020187", + "Pachygyria with cortical thickness > 10 mm": "HP:0020187", + "Pachygyria with cortical thickness above 10 mm": "HP:0020187", + "Anterior predominant pachygyria with 5-10 mm cortical thickness": "HP:0020188", + "Posterior predominant thick cortex pachygyria": "HP:0020189", + "Occipital predomimant classic pachygyria": "HP:0020189", + "Pachygyria with cortical thickness over 10 mm posterior predominant": "HP:0020189", + "Perisylvian predominant thick cortex pachygyria": "HP:0020190", + "Pachygyria with cortical thickness > 10 mm perisylvian predominant": "HP:0020190", + "Anterior predominant thick cortex pachygyria": "HP:0020191", + "Pachygyria with cortical thickness > 10 mm anterior predominant": "HP:0020191", + "Pachygyria with 5-10 mm cortical thickness": "HP:0020192", + "Prolonged reptilase time": "HP:0020193", + "IgA heavy chain paraproteinemia": "HP:0020194", + "Alpha heavy chain disease": "HP:0020194", + "IgG heavy chain paraproteinemia": "HP:0020195", + "Gamma heavy-chain disease": "HP:0020195", + "IgM heavy chain paraproteinemia": "HP:0020196", + "Increased circulating arachidonic acid concentration": "HP:0020197", + "Increased circulating arachidonate level": "HP:0020197", + "Increased circulating arachidonic acid level": "HP:0020197", + "Abnormal circulating 18-hydroxycorticosterone level": "HP:0020198", + "Decreased circulating 18-hydroxycortisone level": "HP:0020199", + "Increased circulating 18-hydroxycortisone level": "HP:0020200", + "Abnormal sarcomere morphology": "HP:0020201", + "Abnormal Z disk morphology": "HP:0020202", + "Z-band streaming": "HP:0020203", + "Tubulointerstitial bacterial infiltration": "HP:0020204", + "Renal tubulointerstitial bacterial organisms": "HP:0020204", + "Tubulointerstitial fungal infiltration": "HP:0020205", + "Renal tubulointerstitial fungal organisms": "HP:0020205", + "Simple ear": "HP:0020206", + "Reflex seizure": "HP:0020207", + "Eating-induced seizure": "HP:0020208", + "Hot water-induced seizure": "HP:0020209", + "Praxis-induced seizure": "HP:0020210", + "Proprioceptive-induced seizure": "HP:0020211", + "Reading-induced seizure": "HP:0020212", + "Somatosensory-induced seizure": "HP:0020213", + "Startle-induced seizure": "HP:0020214", + "Thinking-induced seizure": "HP:0020215", + "Cognition induced seizure": "HP:0020215", + "Visually-induced seizure": "HP:0020216", + "Photosensitive seizure": "HP:0020216", + "Focal aware motor seizure": "HP:0020217", + "Focal motor aware seizure": "HP:0020217", + "Focal aware atonic seizure": "HP:0020218", + "Motor seizure": "HP:0020219", + "Focal atonic seizure": "HP:0020220", + "Localised atonic seizure": "HP:0020220", + "Localised hypotonic seizure": "HP:0020220", + "Localized atonic seizure": "HP:0020220", + "Localized hypotonic seizure": "HP:0020220", + "Partial atonic seizure": "HP:0020220", + "Partial hypotonic seizure": "HP:0020220", + "Segmental atonic seizure": "HP:0020220", + "Segmental hypotonic seizure": "HP:0020220", + "Clonic seizure": "HP:0020221", + "Hypohomocysteinemia": "HP:0020222", + "Lower blood homocysteine": "HP:0020222", + "Dermal sinus tract": "HP:0020223", + "Mammary duct ectasia": "HP:0020224", + "Breast abscess": "HP:0020225", + "Nipple tenderness": "HP:0020226", + "Floating gallbladder": "HP:0020227", + "Biospecimen phenotypic feature": "HP:0020228", + "Abnormal lymph-node biospecimen": "HP:0020229", + "Abnormal lymph-node tissue architecture": "HP:0020230", + "Abnormal lymph-node cellular finding": "HP:0020231", + "Abnormal lymph-node cellular antigen expression": "HP:0020233", + "Altered lymph-node tissue architecture": "HP:0020234", + "Distorted lymph node architecture": "HP:0020234", + "Effaced lymph-node architecture": "HP:0020235", + "Vaguely nodular lymph-node architecture": "HP:0020236", + "Lymph-node capsular invasion by lymphocytes": "HP:0020237", + "Lymph-node extracapsular extension by lymph-node lymphocytes": "HP:0020238", + "Increased lymph-node epithelioid histiocyte count": "HP:0020239", + "Scattered lymph node individual epithelioid histiocytes": "HP:0020240", + "Clustered lymph node epithelioid histiocytes": "HP:0020241", + "Abnormal lymph-node follicle architecture": "HP:0020242", + "Abnormal follicular lymph-node architecture": "HP:0020242", + "Floral-pattern lymph node follicles": "HP:0020243", + "Floral follicular lymph node architecture": "HP:0020243", + "Floral growth pattern": "HP:0020243", + "Colonization of follicles by lymphoma cells": "HP:0020244", + "Follicular colonisation": "HP:0020244", + "Follicular colonization": "HP:0020244", + "Crowded lymph-node follicles": "HP:0020245", + "Crowded follicles": "HP:0020245", + "Lymph-node follicular lysis": "HP:0020246", + "Follicular lysis": "HP:0020246", + "Non-polarized lymph node germinal centers": "HP:0020247", + "Irregularly shaped lymph node germinal centers": "HP:0020248", + "Abnormal lymph-node marginal or mantle zone morphology": "HP:0020249", + "Abnormal lymph node marginal zone morphology": "HP:0020250", + "Abnormal lymph node mantle zone morphology": "HP:0020251", + "Lymph node with expanded mantle zones": "HP:0020253", + "Germinal centers with expanded mantle zones": "HP:0020253", + "Germinal centres with expanded mantle zones": "HP:0020253", + "Lymph node with poorly defined germinal center borders": "HP:0020254", + "Abnormal lymph-node germinal center morphology": "HP:0020255", + "Mantle zone pattern": "HP:0020257", + "Germinal centers with absent marginal zones": "HP:0020258", + "Poorly defined primary lymph-node follicles": "HP:0020261", + "Progressive transformation of germinal centers": "HP:0020262", + "PTGC": "HP:0020262", + "Absent germinal center tingible body macrophages": "HP:0020263", + "Lack of germinal center mitotic figures": "HP:0020264", + "Non-polarized mantle zones": "HP:0020265", + "Hyalinized lymph-node vessels": "HP:0020266", + "Lymph-node follicular sclerosis": "HP:0020267", + "Follicular sclerosis": "HP:0020267", + "Compressed lymph-node sinuses": "HP:0020268", + "Lymph-node proliferation centers": "HP:0020269", + "Pseudofollicles": "HP:0020269", + "Cytologic atypia in mantle cells": "HP:0020270", + "Increased lymph-node eosinophils": "HP:0020271", + "Increased lymph-node plasma cells": "HP:0020272", + "High lymph node non-germinal center mitotic activity": "HP:0020273", + "Lymph-node lymphocyte monocytoid morphology": "HP:0020274", + "Reduced lymph node lymphocyte morphological variability": "HP:0020275", + "Monomorphic cells": "HP:0020275", + "Increased large lymphocytes in lymph node": "HP:0020276", + "Hodgkin morphology cells": "HP:0020277", + "Abnormal lymph-node lymphoctye nuclear morphology": "HP:0020278", + "Irregular lymph-node lymphocyte nuclei": "HP:0020279", + "Lymph-node Dutcher bodies": "HP:0020280", + "Finely dispersed lymph node lymphocyte chromatin": "HP:0020281", + "Abnormal lymph-node lymphocyte chromatin": "HP:0020282", + "Clumping of lymph node lymphocyte chromatin": "HP:0020283", + "Abnormal lymph-node lymphocyte cytoplasm morphology": "HP:0020284", + "Decreased lymph node lymphocyte cytoplasm": "HP:0020285", + "Scant lymph node lymphocyte cytoplasm": "HP:0020285", + "Increased lymph node lymphocyte cytoplasm": "HP:0020286", + "Abnormal level of lymph-node cellular CD19 expression": "HP:0020287", + "Abnormal lymph-node cellular B-cell marker expression": "HP:0020288", + "Abnormal level of lymph-node cellular CD20 expression": "HP:0020289", + "CD79a expression": "HP:0020290", + "Increased lymph-node cellular CD20 expression": "HP:0020291", + "Decreased lymph-node cellular CD20 expression": "HP:0020292", + "Decreased lymph-node cellular CD19 expression": "HP:0020293", + "Increased lymph-node cellular CD19 expression": "HP:0020294", + "PAX5 expression": "HP:0020295", + "Germinal center B-lymphocyte BCL2 expression": "HP:0020296", + "Hallux rigidus": "HP:0025004", + "Arthritis of the big toe": "HP:0025004", + "Thickening of glomerular capillary wall": "HP:0025005", + "Abnormal glomerular capillary morphology": "HP:0025006", + "Abnormalities of the glomerular capillary wall": "HP:0025006", + "Ectopic fovea": "HP:0025007", + "Ectopic macula": "HP:0025007", + "Tracheal tug on inspiration": "HP:0025008", + "Forward slanting upper incisors": "HP:0025009", + "Forward directed upper incisors": "HP:0025009", + "Proclination of the upper incisors": "HP:0025009", + "Protruding upper incisors": "HP:0025009", + "Foveal atrophy": "HP:0025010", + "Pyriform aperture stenosis": "HP:0025011", + "Status cribrosum": "HP:0025012", + "Decerebrate rigidity": "HP:0025013", + "Decerebrate posturing": "HP:0025013", + "Subcutaneous spheroids": "HP:0025014", + "Abnormal vascular morphology": "HP:0025015", + "Abnormal capillary morphology": "HP:0025016", + "Capillary fragility": "HP:0025017", + "Abnormal capillary physiology": "HP:0025018", + "Arterial rupture": "HP:0025019", + "Elevated prostate-specific antigen level": "HP:0025020", + "Abnormal erythrocyte sedimentation rate": "HP:0025021", + "Abnormal ESR": "HP:0025021", + "Abnormal Westergren sedimentation rate": "HP:0025021", + "Decreased erythrocyte sedimentation rate": "HP:0025022", + "Decreased ESR": "HP:0025022", + "Low ESR": "HP:0025022", + "Rectal atresia": "HP:0025023", + "Atresia of the rectum": "HP:0025023", + "Megarectum": "HP:0025024", + "Rectovestibular fistula": "HP:0025025", + "Vestibular fistula": "HP:0025025", + "H-type rectovestibular fistula": "HP:0025026", + "Osteoma cutis": "HP:0025027", + "Cutaneous osteosis": "HP:0025027", + "Miliary osteoma": "HP:0025027", + "Osteomatosis": "HP:0025027", + "Abnormal enteric nervous system morphology": "HP:0025028", + "Abnormality of enteric nervous system morphology": "HP:0025028", + "Abnormal enteric neuron morphology": "HP:0025029", + "Abnormality of enteric neuron morphology": "HP:0025029", + "Enteric neuronal degeneration": "HP:0025030", + "Degenerative enteric neuropathy": "HP:0025030", + "Abnormality of the digestive system": "HP:0025031", + "Abnormality of digestive system physiology": "HP:0025032", + "Abnormal digestive system morphology": "HP:0025033", + "Abnormality of digestive system morphology": "HP:0025033", + "Abnormal morphology of erythroid progenitor cell": "HP:0025034", + "Abnormal proerythroblast morphology": "HP:0025035", + "Hypothalamic gliosis": "HP:0025037", + "Intratesticular abscess": "HP:0025038", + "Testicular abscess": "HP:0025038", + "Basal ganglia edema": "HP:0025039", + "Edema of the basal ganglia": "HP:0025039", + "Oedema of the basal ganglia": "HP:0025039", + "Thalamic edema": "HP:0025040", + "Edema of the thalamus": "HP:0025040", + "Oedema of the thalamus": "HP:0025040", + "Thalamic calcification": "HP:0025041", + "Abnormality of mesenteric lymph nodes": "HP:0025042", + "Enlarged mesenteric lymph node": "HP:0025043", + "Lung abscess": "HP:0025044", + "Abnormal brain lactate level by MRS": "HP:0025045", + "Abnormal lactate level by magnetic resonance spectroscopy": "HP:0025045", + "Reduced brain lactate level by MRS": "HP:0025046", + "Reduced brain lactate level by magnetic resonance spectroscopy": "HP:0025046", + "Abnormal brain choline level by MRS": "HP:0025047", + "Abnormal brain choline level by magnetic resonance spectroscopy": "HP:0025047", + "Reduced brain choline level by MRS": "HP:0025048", + "Reduced brain choline level by magnetic resonance spectroscopy": "HP:0025048", + "Abnormal brain creatine level by MRS": "HP:0025049", + "Abnormal brain creatine level by magnetic resonance spectroscopy": "HP:0025049", + "Elevated brain creatine level by MRS": "HP:0025050", + "Elevated brain creatine level by magnetic resonance spectroscopy": "HP:0025050", + "Reduced brain creatine level by MRS": "HP:0025051", + "Low brain creatine phosphate": "HP:0025051", + "Reduced brain creatine level by magnetic resonance spectroscopy": "HP:0025051", + "Abnormal brain N-acetyl aspartate level by MRS": "HP:0025052", + "Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy": "HP:0025052", + "Elevated brain N-acetyl aspartate level by MRS": "HP:0025053", + "Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy": "HP:0025053", + "Abnormal olfactory lobe morphology": "HP:0025057", + "Abnormality of olfactory lobe morphology": "HP:0025057", + "Hypothalamic atrophy": "HP:0025058", + "Atrophy of the hypothalamus": "HP:0025058", + "Splenic abscess": "HP:0025059", + "Multifocal splenic abscess": "HP:0025060", + "Multilocular splenic abscess": "HP:0025060", + "Unifocal splenic abscess": "HP:0025061", + "Solitary splenic abscess": "HP:0025061", + "Unilocular splenic abscess": "HP:0025061", + "Geophagia": "HP:0025062", + "Geophagy": "HP:0025062", + "Scaphoid abdomen": "HP:0025063", + "Thalamic hemorrhage": "HP:0025064", + "Abnormal mean corpuscular volume": "HP:0025065", + "Abnormal MCV": "HP:0025065", + "Abnormal erythrocyte volume": "HP:0025065", + "Decreased mean corpuscular volume": "HP:0025066", + "Decreased MCV": "HP:0025066", + "Microcytosis": "HP:0025066", + "Reduced erythrocyte volume": "HP:0025066", + "Incomitant strabismus": "HP:0025068", + "Concomitant strabismus": "HP:0025069", + "Comitant strabismus": "HP:0025069", + "Abnormal U wave": "HP:0025070", + "U wave inversion": "HP:0025071", + "Prominent U wave": "HP:0025072", + "Increased U wave amplitude": "HP:0025072", + "Exercise-induced U wave inversion": "HP:0025073", + "Abnormal QRS complex": "HP:0025074", + "Increased QRS voltage": "HP:0025075", + "Abnormal QRS voltage": "HP:0025076", + "Decreased QRS voltage": "HP:0025077", + "Electrical alternans": "HP:0025078", + "Pancreatic abscess": "HP:0025079", + "Pancreas abscess": "HP:0025079", + "Orthokeratotic hyperkeratosis": "HP:0025080", + "Darier's sign": "HP:0025081", + "Abnormal cutaneous elastic fiber morphology": "HP:0025082", + "Abnormal cutaneous elastic fibre morphology": "HP:0025082", + "Elevated dermal desmosine content": "HP:0025083", + "Folliculitis": "HP:0025084", + "Follicular pustule": "HP:0025084", + "Hair follicle inflammation": "HP:0025084", + "Bloody diarrhea": "HP:0025085", + "Blood in stool": "HP:0025085", + "Bloody stool": "HP:0025085", + "Bloody bowel movement": "HP:0025085", + "Bloody mucoid diarrhea": "HP:0025086", + "Delayed recoil upon stretching of skin": "HP:0025087", + "Onychomadesis": "HP:0025088", + "Feculent vomiting": "HP:0025089", + "Faecal vomiting": "HP:0025089", + "Fecal vomiting": "HP:0025089", + "Stercoraceous vomiting": "HP:0025089", + "Vomiting faecal matter": "HP:0025089", + "Vomiting fecal matter": "HP:0025089", + "Abnormal large intestinal mucosa morphology": "HP:0025090", + "Epidermal acanthosis": "HP:0025092", + "Acanthosis": "HP:0025092", + "Acanthotic epidermis": "HP:0025092", + "Thickening of upper layer of skin": "HP:0025092", + "Epidermal hyperplasia": "HP:0025092", + "Peripapillary exudate": "HP:0025093", + "Peripapillary exudation": "HP:0025093", + "Disciform macular scar": "HP:0025094", + "Sneeze": "HP:0025095", + "Paroxysmal sneezing": "HP:0025096", + "Eyelid myoclonus": "HP:0025097", + "Blepharoclonus": "HP:0025097", + "Eyelid myoclonia": "HP:0025097", + "Dysgenesis of the hypothalamus": "HP:0025098", + "Hypothalamic dysgenesis": "HP:0025098", + "Dysgenesis of the thalamus": "HP:0025099", + "Thalamic dysgenesis": "HP:0025099", + "Abnormal hippocampus morphology": "HP:0025100", + "Abnormal morphology of the hippocampus": "HP:0025100", + "Abnormality of hippocampus morphology": "HP:0025100", + "Dysgenesis of the hippocampus": "HP:0025101", + "Hippocampal dysgenesis": "HP:0025101", + "Dysgenesis of the basal ganglia": "HP:0025102", + "Basal ganglia dysgenesis": "HP:0025102", + "Umbilicated nodule": "HP:0025103", + "Capillary malformation": "HP:0025104", + "Nevus anemicus": "HP:0025105", + "Naevus anaemicus": "HP:0025105", + "Nevus roseus": "HP:0025106", + "Cutis marmorata telangiectatica congenita": "HP:0025107", + "Angioma serpentinum": "HP:0025108", + "Reduced red cell pyruvate kinase level": "HP:0025109", + "Reduced erythrocyte pyruvate kinase activity": "HP:0025109", + "Placoid macular lesion": "HP:0025110", + "Auditory sensitivity": "HP:0025112", + "Noise sensitivity": "HP:0025112", + "Misophonia": "HP:0025113", + "Hypergranulosis": "HP:0025114", + "Civatte bodies": "HP:0025115", + "Colloid bodies": "HP:0025115", + "Colloid bodies of Civatte": "HP:0025115", + "Cytoid bodies": "HP:0025115", + "Hyaline bodies": "HP:0025115", + "Fetal distress": "HP:0025116", + "Foetal distress": "HP:0025116", + "Rete ridge flattening": "HP:0025117", + "Flattened rete pegs": "HP:0025117", + "Flattened rete ridges": "HP:0025117", + "Lip discoloration": "HP:0025118", + "Violet lip discoloration": "HP:0025119", + "obsolete Simple partial occipital seizures": "HP:0025121", + "Sawtooth acanthosis": "HP:0025122", + "Sawtoothed acanthosis": "HP:0025122", + "White streaks/specks on enamel.": "HP:0025123", + "Fragile teeth": "HP:0025124", + "Enamel with tendency to chip": "HP:0025124", + "Spontaneous tooth fracture": "HP:0025124", + "White lesion of the oral mucosa": "HP:0025125", + "Oral hairy leukoplakia": "HP:0025126", + "Actinic keratosis": "HP:0025127", + "Solar keratosis": "HP:0025127", + "Reduced intraabdominal adipose tissue": "HP:0025128", + "Abnormal small intestinal mucosa morphology": "HP:0025129", + "Decreased small intestinal mucosa lactase level": "HP:0025130", + "Lactase deficiency": "HP:0025130", + "Finger swelling": "HP:0025131", + "Swelling of fingers": "HP:0025131", + "Swollen finger": "HP:0025131", + "Swollen fingers": "HP:0025131", + "Abnormal circulating estrogen level": "HP:0025132", + "Abnormal estrogen level": "HP:0025132", + "Abnormal oestrogen level": "HP:0025132", + "Abnormal serum estradiol": "HP:0025133", + "Increased serum estradiol": "HP:0025134", + "Increased estradiol level": "HP:0025134", + "Increased serum oestradiol": "HP:0025134", + "Abnormal serum estriol": "HP:0025135", + "Increased serum estriol": "HP:0025136", + "Decreased serum estriol": "HP:0025137", + "Abnormal serum estrone": "HP:0025138", + "Increased serum estrone": "HP:0025139", + "Decreased serum estrone": "HP:0025140", + "Gingival calcification": "HP:0025141", + "Gingival calcifications": "HP:0025141", + "Constitutional symptom": "HP:0025142", + "Chills": "HP:0025143", + "Shivering": "HP:0025144", + "Shuddering": "HP:0025144", + "Rigors": "HP:0025145", + "Rigours": "HP:0025145", + "Foveal degeneration": "HP:0025146", + "Beaten bronze macular sheen": "HP:0025147", + "Beaten metal macular appearance": "HP:0025147", + "Beaten-bronze macular appearance": "HP:0025147", + "Beaten-bronze macular sheen": "HP:0025147", + "Dark choroid": "HP:0025148", + "Atrophic muscularis propria": "HP:0025149", + "Autonomic visceral myopathy": "HP:0025149", + "Degenerative enteric myopathy": "HP:0025149", + "Hypoganglionosis": "HP:0025150", + "Ganglioneuromatosis": "HP:0025151", + "Poor visual behavior for age": "HP:0025152", + "Abnormal visual behavior for age": "HP:0025152", + "Abnormal visual behaviour for age": "HP:0025152", + "Transient": "HP:0025153", + "Portosystemic collateral veins": "HP:0025154", + "Collateral biliary circulation": "HP:0025154", + "Collateral biliary veins": "HP:0025154", + "Abnormality of hepatobiliary system physiology": "HP:0025155", + "Dependency on intravenous nutrition": "HP:0025156", + "Dependency on IV nutrition": "HP:0025156", + "Increased urinary sedoheptulose": "HP:0025157", + "Hyperautofluorescent retinal lesion": "HP:0025158", + "Retinal lipofuscin accumulation": "HP:0025158", + "Hypoautofluorescent retinal lesion": "HP:0025159", + "Hypo-autofluorescent retinal lesion": "HP:0025159", + "Abnormal temper tantrums": "HP:0025160", + "Frequent temper tantrums": "HP:0025161", + "Severe temper tantrums": "HP:0025162", + "Abnormal optic chiasm morphology": "HP:0025163", + "Abnormality of optic chiasm morphology": "HP:0025163", + "Increased number of elastic fibers in the dermis": "HP:0025164", + "Increased number of elastic fibres in the dermis": "HP:0025164", + "Clumping of elastic fibers in the dermis": "HP:0025165", + "Clumping of elastic fibres in the dermis": "HP:0025165", + "Thickened elastic fibers in the dermis": "HP:0025166", + "Thickened elastic fibres in the dermis": "HP:0025166", + "Fragmented elastic fibers in the dermis": "HP:0025167", + "Fragmented elastic fibres in the dermis": "HP:0025167", + "Left ventricular diastolic dysfunction": "HP:0025168", + "Left ventricular systolic dysfunction": "HP:0025169", + "Neuronal/glioneuronal neoplasm of the central nervous system": "HP:0025170", + "Glioneuronal tumor": "HP:0025170", + "Glioneuronal tumour": "HP:0025170", + "Neuronal and mixed neuronal-glial tumor": "HP:0025170", + "Neuronal and mixed neuronal-glial tumour": "HP:0025170", + "Neuronal/glioneuronal neoplasm of the CNS": "HP:0025170", + "Rosette-forming glioneuronal tumor": "HP:0025171", + "Rosette-forming glioneuronal neoplasm": "HP:0025171", + "Rosette-forming glioneuronal tumor of the fourth ventricle": "HP:0025171", + "Rosette-forming glioneuronal tumour of the fourth ventricle": "HP:0025171", + "Smooth septal thickening on pulmonary HRCT": "HP:0025172", + "Nodular septal thickening on pulmonary HRCT": "HP:0025173", + "Irregular septal thickening on pulmonary HRCT": "HP:0025174", + "Honeycomb lung": "HP:0025175", + "Honeycomb cysts": "HP:0025175", + "Honeycombing": "HP:0025175", + "Intralobular interstitial thickening": "HP:0025176", + "Peribronchovascular interstitial thickening": "HP:0025177", + "Subpleural interstitial thickening": "HP:0025178", + "Subpleural scarring": "HP:0025178", + "Ground-glass opacification": "HP:0025179", + "GGO": "HP:0025179", + "Ground glass opacities": "HP:0025179", + "Ground-glass opacification on pulmonary HRCT": "HP:0025179", + "Centrilobular ground-glass opacification on pulmonary HRCT": "HP:0025180", + "Centrilobular groundglass opacification": "HP:0025180", + "Centrilobular groundglass opacity": "HP:0025180", + "Abdominal aseptic abscess": "HP:0025181", + "Localized area of pendulous skin": "HP:0025182", + "Localised area of pendulous skin": "HP:0025182", + "Marcus Gunn jaw winking synkinesis": "HP:0025186", + "Marcus Gunn jaw-winking syndrome": "HP:0025186", + "Pterygoid-levator synkinesis": "HP:0025186", + "Trigemino-oculomotor synkinesis": "HP:0025186", + "Retinal vasculitis": "HP:0025188", + "Bilateral tonic-clonic seizure with generalized onset": "HP:0025190", + "Bilateral tonic-clonic seizure with generalised onset": "HP:0025190", + "Generalised tonic-clonic seizure without focal onset": "HP:0025190", + "Generalised tonic-clonic seizure without partial onset": "HP:0025190", + "Generalised tonic-clonic seizures without focal onset": "HP:0025190", + "Generalised-onset tonic-clonic seizure": "HP:0025190", + "Generalized tonic-clonic seizure without focal onset": "HP:0025190", + "Generalized tonic-clonic seizure without partial onset": "HP:0025190", + "Generalized tonic-clonic seizures without focal onset": "HP:0025190", + "Generalized-onset tonic-clonic seizure": "HP:0025190", + "Primarily generalised tonic-clonic seizures": "HP:0025190", + "Primarily generalized tonic-clonic seizures": "HP:0025190", + "Primary generalised tonic-clonic seizure": "HP:0025190", + "Primary generalised tonic-clonic seizures": "HP:0025190", + "Primary generalized tonic-clonic seizure": "HP:0025190", + "Primary generalized tonic-clonic seizures": "HP:0025190", + "obsolete Segmental myoclonic seizures": "HP:0025191", + "Subtentorial periventricular white matter hyperdensity": "HP:0025192", + "Posterolateral diaphragmatic hernia": "HP:0025193", + "Bochdalek hernia": "HP:0025193", + "Morgagni diaphragmatic hernia": "HP:0025194", + "Morgagni hernia": "HP:0025194", + "Central diaphragmatic hernia": "HP:0025195", + "Central hernia": "HP:0025195", + "Increased total iron binding capacity": "HP:0025196", + "Inclusion body fibromatosis": "HP:0025197", + "Digital fibrous tumor of Reye": "HP:0025197", + "Digital fibrous tumour of Reye": "HP:0025197", + "Infantile digital fibroma": "HP:0025197", + "Infantile digital fibromatosis": "HP:0025197", + "Inflammatory cap polyp": "HP:0025198", + "Muscle fiber actin filament accumulation": "HP:0025200", + "Muscle fibre actin filament accumulation": "HP:0025200", + "Abnormal circulating apolipoprotein concentration": "HP:0025201", + "Abnormal apolipoprotein level": "HP:0025201", + "Elevated circulating apolipoprotein A-IV concentration": "HP:0025202", + "Elevated apolipoprotein A-IV level": "HP:0025202", + "Caput medusae": "HP:0025203", + "Palm tree sign": "HP:0025203", + "Triggered by": "HP:0025204", + "Triggered by breast feeding": "HP:0025205", + "Breastfeeding triggered symptoms": "HP:0025205", + "Triggered by breastfeeding": "HP:0025205", + "Triggered by cold": "HP:0025206", + "Cold triggered symptoms": "HP:0025206", + "Triggered by cold temperature": "HP:0025206", + "Triggered by dehydration": "HP:0025207", + "Dehydration triggered symptoms": "HP:0025207", + "Triggered by carbohydrate ingestion": "HP:0025208", + "Carbohydrate ingestion triggered symptoms": "HP:0025208", + "Triggered by fructose ingestion": "HP:0025209", + "Triggered by fruit sugar": "HP:0025209", + "Triggered by glucose ingestion": "HP:0025210", + "Triggered by ethanol ingestion": "HP:0025211", + "Triggered by alcohol ingestion": "HP:0025211", + "Ethanol ingestion triggered symptoms": "HP:0025211", + "Triggered by fasting": "HP:0025212", + "Fasting triggered attacks": "HP:0025212", + "Fasting triggered symptoms": "HP:0025212", + "Triggered by galactose ingestion": "HP:0025213", + "Triggered by ingestion of lactose-containing milk": "HP:0025213", + "Triggered by heat": "HP:0025214", + "Heat triggered symptoms": "HP:0025214", + "Triggered by febrile illness": "HP:0025215", + "Febrile illness triggered symptoms": "HP:0025215", + "Triggered by fever": "HP:0025215", + "Triggered by heavy meal": "HP:0025216", + "Heavy meal triggered symptoms": "HP:0025216", + "Triggered by overeating": "HP:0025216", + "Triggered by high-fat diet": "HP:0025217", + "High-fat diet triggered symptoms": "HP:0025217", + "Triggered by hyperventilation": "HP:0025218", + "Hyperventilation triggered symptoms": "HP:0025218", + "Triggered by vaccination": "HP:0025219", + "Triggered by immunisation": "HP:0025219", + "Triggered by immunization": "HP:0025219", + "Vaccination triggered symptoms": "HP:0025219", + "Triggered by menstruation": "HP:0025220", + "Menstruation triggered symptoms": "HP:0025220", + "Triggered by monthly period": "HP:0025220", + "Triggered by period": "HP:0025220", + "Triggered by pregnancy": "HP:0025221", + "Pregnancy triggered symptoms": "HP:0025221", + "Triggered by sleep deprivation": "HP:0025222", + "Sleep deprivation triggered symptoms": "HP:0025222", + "Triggered by smoking": "HP:0025223", + "Smoking triggered symptoms": "HP:0025223", + "Triggered by cigarette consumption": "HP:0025223", + "Triggered by tobacco use": "HP:0025223", + "Triggered by sodium ingestion": "HP:0025224", + "Sodium ingestion triggered symptoms": "HP:0025224", + "Sodium intake triggered attacks": "HP:0025224", + "Triggered by Na ingestion": "HP:0025224", + "Triggered by Na+ ingestion": "HP:0025224", + "Triggered by sodium intake": "HP:0025224", + "Triggered by salt ingestion": "HP:0025224", + "Triggered by sound": "HP:0025225", + "Sound triggered symptoms": "HP:0025225", + "Triggered by stress": "HP:0025226", + "Stress triggered symptoms": "HP:0025226", + "Triggered by excitement": "HP:0025227", + "Excitement triggered symptoms": "HP:0025227", + "Triggered by startle": "HP:0025227", + "Triggered by sudden movement": "HP:0025228", + "Kinesigenic": "HP:0025228", + "Sudden movement triggered symptoms": "HP:0025228", + "Triggered by vestibular stimulation": "HP:0025229", + "Vestibular stimulation triggered attacks": "HP:0025229", + "Vestibular stimulation triggered symptoms": "HP:0025229", + "Tendonitis": "HP:0025230", + "Teninitis": "HP:0025230", + "Abnormal synovial bursa morphology": "HP:0025231", + "Abnormality of synovial bursa morphology": "HP:0025231", + "Bursitis": "HP:0025232", + "Sleep paralysis": "HP:0025233", + "Inability to move or speak": "HP:0025233", + "Parasomnia": "HP:0025234", + "Event that disrupts sleep": "HP:0025234", + "NREM parasomnia": "HP:0025235", + "Disturbance in NREM": "HP:0025235", + "Non-rapid eye movement parasomnia": "HP:0025235", + "Somnambulism": "HP:0025236", + "Sleep walking": "HP:0025236", + "Confusional arousal": "HP:0025237", + "Disoriented": "HP:0025237", + "Slow speech or confused thinking upon waking": "HP:0025237", + "Unresponsive": "HP:0025237", + "Foot pain": "HP:0025238", + "Subhyaloid hemorrhage": "HP:0025239", + "Subhyaloid haemorrhage": "HP:0025239", + "Subhyaloid heme": "HP:0025239", + "Preretinal hemorrhage": "HP:0025240", + "Preretinal haemorrhage": "HP:0025240", + "Preretinal heme": "HP:0025240", + "Flame-shaped retinal hemorrhage": "HP:0025241", + "Feathered retinal heme": "HP:0025241", + "Flame-shaped retinal haemorrhage": "HP:0025241", + "Linear retina heme": "HP:0025241", + "Dot-and-blot retinal hemorrhage": "HP:0025242", + "Dot-and-blot retinal haemorrhage": "HP:0025242", + "Round retinal heme": "HP:0025242", + "Subretinal hemorrhage": "HP:0025243", + "Subretinal haemorrhage": "HP:0025243", + "Subretinal heme": "HP:0025243", + "Subretinal pigment epithelium hemorrhage": "HP:0025244", + "Subretinal pigment epithelium haemorrhage": "HP:0025244", + "Cutaneous cyst": "HP:0025245", + "Skin cyst": "HP:0025245", + "Trichilemmal cyst": "HP:0025246", + "Pilar cyst": "HP:0025246", + "Dermoid cyst": "HP:0025247", + "Eruptive vellus hair cyst": "HP:0025248", + "Comedo": "HP:0025249", + "Closed comedo": "HP:0025250", + "Whitehead": "HP:0025250", + "Open comedo": "HP:0025251", + "Blackhead": "HP:0025251", + "Geographic tongue": "HP:0025252", + "Annulus migrans": "HP:0025252", + "Benign migratory glossitis": "HP:0025252", + "Glossitis areata exfoliativa": "HP:0025252", + "Lingual erythema migrans": "HP:0025252", + "Wandering rash of the tongue": "HP:0025252", + "Claustrophobia": "HP:0025253", + "Ameliorated by": "HP:0025254", + "Improved by": "HP:0025254", + "Ameliorated by pregnancy": "HP:0025255", + "Pregnancy relieves symptoms": "HP:0025255", + "Ameliorated by heat": "HP:0025256", + "Heat improves condition": "HP:0025256", + "Heat improves symptom": "HP:0025256", + "Fever improves condition": "HP:0025256", + "Ameliorated by carbohydrate ingestion": "HP:0025257", + "Stiff neck": "HP:0025258", + "Neck stiffness": "HP:0025258", + "Stiff elbow": "HP:0025259", + "Elbow stiffness": "HP:0025259", + "Stiff wrist": "HP:0025260", + "Wrist stiffness": "HP:0025260", + "Stiff finger": "HP:0025261", + "Finger stiffness": "HP:0025261", + "Stiff hip": "HP:0025262", + "Hip stiffness": "HP:0025262", + "Stiff knee": "HP:0025263", + "Knee stiffness": "HP:0025263", + "Stiff ankle": "HP:0025264", + "Ankle stiffness": "HP:0025264", + "Stiff toe": "HP:0025265", + "Toe stiffness": "HP:0025265", + "obsolete Cervical osteoarthritis": "HP:0025266", + "Snoring": "HP:0025267", + "Snore": "HP:0025267", + "Snores": "HP:0025267", + "Snoring symptoms": "HP:0025267", + "Stuttering": "HP:0025268", + "Stammering": "HP:0025268", + "Panic attack": "HP:0025269", + "Abnormal esophagus physiology": "HP:0025270", + "Abnormality of esophagus physiology": "HP:0025270", + "Abnormality of oesophagus physiology": "HP:0025270", + "Functional abnormality of the esophagus": "HP:0025270", + "Functional abnormality of the oesophagus": "HP:0025270", + "Esophageal spasms": "HP:0025271", + "Melasma": "HP:0025272", + "Chloasma": "HP:0025272", + "Facial melanosis": "HP:0025272", + "Achilles tendonitis": "HP:0025273", + "Ovarian dermoid cyst": "HP:0025274", + "Mature cystic ovarian teratoma": "HP:0025274", + "Lateral": "HP:0025275", + "Abnormality of skin adnexa physiology": "HP:0025276", + "Gustatory sweating": "HP:0025277", + "Cold-induced sweating": "HP:0025278", + "Migratory": "HP:0025279", + "Pain characteristic": "HP:0025280", + "Sharp": "HP:0025281", + "Stabbing pain": "HP:0025281", + "Dull": "HP:0025282", + "Dull pain": "HP:0025282", + "Tender": "HP:0025283", + "Sleep-interrupting": "HP:0025284", + "Aggravated by": "HP:0025285", + "Exacerbated by": "HP:0025285", + "Aggravated by activity": "HP:0025286", + "Aggravated by exercise": "HP:0025286", + "Aggravated by exertion": "HP:0025286", + "Worse with activity": "HP:0025286", + "Worsened by activity": "HP:0025286", + "Axial": "HP:0025287", + "Cervical lymphadenopathy": "HP:0025289", + "Swollen lymph nodes in the neck": "HP:0025289", + "Upper-body predominance": "HP:0025290", + "Lower-body predominance": "HP:0025291", + "Acral": "HP:0025292", + "Distributed along Blaschko lines": "HP:0025293", + "Dermatomal": "HP:0025294", + "Radicular": "HP:0025294", + "Herpetiform": "HP:0025295", + "Morbilliform": "HP:0025296", + "Prolonged": "HP:0025297", + "Malar rash": "HP:0025300", + "Butterfly rash": "HP:0025300", + "Cheekbone rash": "HP:0025300", + "Nocturnal": "HP:0025301", + "Diurnal": "HP:0025302", + "Episodic": "HP:0025303", + "Now and then": "HP:0025303", + "Periodic": "HP:0025304", + "Cyclic": "HP:0025304", + "Cyclical": "HP:0025304", + "Quotidian": "HP:0025305", + "Acute emergence over minutes": "HP:0025306", + "Acute emergence over hours": "HP:0025307", + "Acute emergence over days": "HP:0025308", + "Abnormal pupil shape": "HP:0025309", + "Irregular pupil": "HP:0025309", + "Oval pupil": "HP:0025310", + "Anterior chamber cyst": "HP:0025311", + "Esophoria": "HP:0025312", + "Exophoria": "HP:0025313", + "Choroidal nevus": "HP:0025314", + "Exacerbated by head trauma": "HP:0025315", + "Cubitus varus": "HP:0025317", + "Ovarian carcinoma": "HP:0025318", + "Ovarian epithelial cancer": "HP:0025318", + "obsolete Rubeosis iridis": "HP:0025319", + "Leakage of dye on fundus fluorescein angiography": "HP:0025320", + "Fluorescein leakage": "HP:0025320", + "Copper accumulation in liver": "HP:0025321", + "Liver copper accumulation": "HP:0025321", + "Venous occlusion": "HP:0025322", + "Abnormal arterial physiology": "HP:0025323", + "Arterial occlusion": "HP:0025324", + "Sparse medial eyebrow": "HP:0025325", + "Medial thinning of eyebrow": "HP:0025325", + "Retinal arterial occlusion": "HP:0025326", + "Retinal artery occlusion": "HP:0025326", + "Decreased renal parenchymal thickness": "HP:0025327", + "Antepartum hemorrhage": "HP:0025328", + "Antepartum haemorrhage": "HP:0025328", + "Prepartum haemorrhage": "HP:0025328", + "Prepartum hemorrhage": "HP:0025328", + "Anti-glutamic acid decarboxylase antibody positivity": "HP:0025329", + "Anti-GAD antibody positivity": "HP:0025329", + "Downgaze palsy": "HP:0025330", + "Downgaze paresis": "HP:0025330", + "Supranuclear downgaze palsy": "HP:0025330", + "Upgaze palsy": "HP:0025331", + "Supranuclear upgaze palsy": "HP:0025331", + "Upgaze paresis": "HP:0025331", + "Abnormality of foot cortical bone": "HP:0025332", + "Abnormality of the cortex of foot bones": "HP:0025332", + "Cortical thinning of foot bones": "HP:0025333", + "Triggered by emotion": "HP:0025334", + "Emotion triggered symptoms": "HP:0025334", + "Delayed ability to stand": "HP:0025335", + "Delayed ability to sit": "HP:0025336", + "Red eye": "HP:0025337", + "Red eyes": "HP:0025337", + "Circumlimbal hyperemia": "HP:0025338", + "Ciliary limbus": "HP:0025338", + "Circumlimbal hyperaemia": "HP:0025338", + "Superficial episcleral hyperemia": "HP:0025339", + "Superficial episcleral hypaeremia": "HP:0025339", + "Deep episcleral hyperemia": "HP:0025340", + "Deep episcleral hyperaemia": "HP:0025340", + "Corneal keratic precipitates": "HP:0025341", + "Central retinal artery occlusion": "HP:0025342", + "Lupus anticoagulant": "HP:0025343", + "Interlobular bile duct destruction": "HP:0025344", + "Abnormality of circulating beta-2-microglobulin level": "HP:0025345", + "Abnormality of circulating B2M level": "HP:0025345", + "Abnormality of circulating beta2 microglobulin level": "HP:0025345", + "Abnormality of circulating beta2-m level": "HP:0025345", + "Abnormality of circulating beta2m level": "HP:0025345", + "Increased circulating beta-2-microglobulin level": "HP:0025346", + "Elevated circulating beta-2-microglobulin level": "HP:0025346", + "Decreased circulating beta-2-microglobulin level": "HP:0025347", + "Reduced circulating beta-2-microglobulin level": "HP:0025347", + "Abnormal corneal limbus morphology": "HP:0025348", + "Abnormality of the corneal limbus": "HP:0025348", + "Limbal edema": "HP:0025349", + "Limbal oedema": "HP:0025349", + "Giant conjunctival papillae": "HP:0025350", + "Recurrent interdigital mycosis": "HP:0025351", + "Recurrent interdigital tinea": "HP:0025351", + "Typically de novo": "HP:0025352", + "Autosomal dominant germline de novo mutation": "HP:0025352", + "Anti-multiple nuclear dots antibody positivity": "HP:0025353", + "Anti-MND antibodies": "HP:0025353", + "Abnormal cellular phenotype": "HP:0025354", + "Retinal arterial macroaneurysms": "HP:0025355", + "obsolete Psychomotor retardation": "HP:0025356", + "Erratic myoclonus": "HP:0025357", + "Fragmentary myoclonus": "HP:0025357", + "Uveal ectropion": "HP:0025358", + "Ectropion uveae": "HP:0025358", + "Polygonal renal calices": "HP:0025359", + "Polygonal calices": "HP:0025359", + "Polygonal-shaped calices": "HP:0025359", + "Polycalycosis": "HP:0025360", + "Abnormal medullary pyramid morphology": "HP:0025361", + "Abnormality of medullary pyramid morphology": "HP:0025361", + "Renal medullary pyramid hypoplasia": "HP:0025362", + "Hypoplasia of the medullary pyramids": "HP:0025362", + "Glomerular endocapillary hypercellularity": "HP:0025363", + "Endocapillary hypercellularity": "HP:0025363", + "Glomerular extracapillary hypercellularity": "HP:0025364", + "Extracapillary glomerular hypercellularity": "HP:0025364", + "Extracapillary hypercellularity": "HP:0025364", + "Trichoepithelioma": "HP:0025367", + "Abnormal growth plate morphology": "HP:0025368", + "Abnormality of growth plate morphology": "HP:0025368", + "Thick growth plates": "HP:0025369", + "Abnormal ossification of the sacrum": "HP:0025370", + "Delayed ossification of the sacrum": "HP:0025371", + "Loud snoring": "HP:0025372", + "Has loud snoring": "HP:0025372", + "Have loud snoring": "HP:0025372", + "Heavy snoring": "HP:0025372", + "Snores loudly": "HP:0025372", + "Interictal EEG abnormality": "HP:0025373", + "Duplicated odontoid process": "HP:0025374", + "Orthotopic os odontoideum": "HP:0025375", + "Hyperglutaminuria": "HP:0025376", + "Glutamine high in urine": "HP:0025376", + "Glutaminuria": "HP:0025376", + "Triggered by exertion": "HP:0025377", + "Exertion triggered symptoms": "HP:0025377", + "Triggered by physical exercise": "HP:0025377", + "Anti-thyroid peroxidase antibody positivity": "HP:0025379", + "Anti-TPO antibody positivity": "HP:0025379", + "Antimicrosomal antibodies": "HP:0025379", + "Antimicrosomal antibody positivity": "HP:0025379", + "TPOAbs": "HP:0025379", + "Increased circulating androstenedione concentration": "HP:0025380", + "Increased serum androstenedione": "HP:0025380", + "Anti-pituitary antibody positivity": "HP:0025381", + "Hypodipsia": "HP:0025382", + "Dorsocervical fat pad": "HP:0025383", + "Buffalo hump": "HP:0025383", + "Diet-resistant subcutaneous adipose tissue": "HP:0025384", + "Diet-resistant subcutaneous adipose tissue below waist": "HP:0025385", + "Bitemporal hollowing": "HP:0025386", + "Pill-rolling tremor": "HP:0025387", + "Pill rolling": "HP:0025387", + "Thyroid nodule": "HP:0025388", + "Pulmonary interstitial high-resolution computed tomography abnormality": "HP:0025389", + "Pulmonary interstitiatial HRCT abnormality": "HP:0025389", + "Reticular pattern on pulmonary HRCT": "HP:0025390", + "Crazy paving pattern": "HP:0025391", + "Crazy paving pattern on pulmonary HRCT": "HP:0025391", + "Crazy-paving pattern": "HP:0025391", + "Nodular pattern on pulmonary HRCT": "HP:0025392", + "Reticulonodular pattern on pulmonary HRCT": "HP:0025393", + "Cystic pattern on pulmonary HRCT": "HP:0025394", + "Combined cystic and ground-glass pattern on pulmonary HRCT": "HP:0025395", + "Decreased attenuation pattern on pulmonary HRCT": "HP:0025396", + "Black lung pattern on pulmonary HRCT": "HP:0025396", + "Mosaic attenuation pattern on pulmonary HRCT": "HP:0025397", + "Nodular-perilymphatic pattern on pulmonary HRCT": "HP:0025398", + "Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT": "HP:0025399", + "Nodular-random pattern on pulmonary HRCT": "HP:0025400", + "Staring gaze": "HP:0025401", + "Episodes of staring": "HP:0025401", + "Staring episodes": "HP:0025401", + "Staring eyes": "HP:0025401", + "Square-wave jerks": "HP:0025402", + "Stooped posture": "HP:0025403", + "Abnormal visual fixation": "HP:0025404", + "Visual fixation instability": "HP:0025405", + "Instability of ocular fixation": "HP:0025405", + "Asthenia": "HP:0025406", + "Lack of energy and strength": "HP:0025406", + "Weakness": "HP:0025406", + "Prostration": "HP:0025406", + "Rectourethral fistula": "HP:0025407", + "Urethrorectal fistula": "HP:0025407", + "Abnormal spleen morphology": "HP:0025408", + "Splenic lesion": "HP:0025408", + "Abnormal spleen physiology": "HP:0025409", + "Splenogonadal fusion": "HP:0025410", + "Fossa navicularis urethral stricture": "HP:0025413", + "Pendulous urethral stricture": "HP:0025414", + "Bulbar urethral stricture": "HP:0025415", + "Vaginal stricture": "HP:0025416", + "Patulous urethra": "HP:0025417", + "Renal cortical necrosis": "HP:0025418", + "Necrosis of the kidney cortex": "HP:0025418", + "Pulmonary pneumatocele": "HP:0025419", + "Pulmonary pneumatocoele": "HP:0025419", + "Diffuse alveolar hemorrhage": "HP:0025420", + "Diffuse alveolar haemorrhage": "HP:0025420", + "Pneumomediastinum": "HP:0025421", + "Pleural cyst": "HP:0025422", + "Abnormal larynx morphology": "HP:0025423", + "Abnormal larynx physiology": "HP:0025424", + "Laryngospasm": "HP:0025425", + "Abnormal bronchus morphology": "HP:0025426", + "Abnormality of the bronchi": "HP:0025426", + "Abnormal bronchus physiology": "HP:0025427", + "obsolete Bronchospasm": "HP:0025428", + "Abnormal cry": "HP:0025429", + "High-pitched cry": "HP:0025430", + "Staccato cry": "HP:0025431", + "Acanthoma": "HP:0025432", + "Decreased lecithin cholesterol acyl transferase level": "HP:0025433", + "Reduced circulating CH50 activity": "HP:0025434", + "Decreased total hemolytic complement activity": "HP:0025434", + "Reduced CH50": "HP:0025434", + "Reduced circulating 50% hemolytic complement (CH50) activity": "HP:0025434", + "Reduced hemolytic complement activity": "HP:0025434", + "Increased circulating lactate dehydrogenase concentration": "HP:0025435", + "Increased circulating LDH concentration": "HP:0025435", + "Increased lactate dehydrogenase level": "HP:0025435", + "Elevated serum 11-deoxycortisol": "HP:0025436", + "Elevated serum 21-hydroxyprogesterone": "HP:0025436", + "Elevated serum deoxycorticosterone": "HP:0025436", + "Macrozoospermia": "HP:0025437", + "Macrocephalic sperm head": "HP:0025437", + "Pharyngitis": "HP:0025439", + "Warm reactive autoantibody positivity": "HP:0025440", + "Achilles tendon calcification": "HP:0025441", + "Calcification of the Achilles tendon": "HP:0025441", + "Abnormal cardiac atrial physiology": "HP:0025443", + "Reduced amygdala volume": "HP:0025444", + "Decrease in amygdala volume": "HP:0025444", + "Abnormal papillary muscle morphology": "HP:0025445", + "Morphological abnormality of the papillary muscles": "HP:0025445", + "Anomalous insertion of papillary muscle directly into anterior mitral leaflet": "HP:0025446", + "Displacement of the papillary muscles": "HP:0025447", + "Anterior displacement of the papillary muscles": "HP:0025448", + "Anteriorly displaced papillary muscles": "HP:0025448", + "Apically displaced anterolateral papillary muscle": "HP:0025449", + "Apically displaced papillary muscles": "HP:0025449", + "Testicular adrenal rest tumor": "HP:0025451", + "Testicular adrenal rest tumour": "HP:0025451", + "Pyoderma gangrenosum": "HP:0025452", + "Delayed adrenarche": "HP:0025453", + "Abnormal CSF metabolite concentration": "HP:0025454", + "Abnormal CSF metabolite level": "HP:0025454", + "Abnormal cerebrospinal fluid metabolite concentration": "HP:0025454", + "Decreased CSF 5-hydroxyindolacetic acid concentration": "HP:0025455", + "Decreased CSF 5-HIAA": "HP:0025455", + "Low CSF 5-HIAA": "HP:0025455", + "Low CSF 5-hydroxyindolacetic acid": "HP:0025455", + "Abnormal CSF protein concentration": "HP:0025456", + "Abnormal CSF protein level": "HP:0025456", + "Decreased CSF protein concentration": "HP:0025457", + "Decreased CSF protein": "HP:0025457", + "Decreased cerebrospinal fluid total protein": "HP:0025457", + "Hypoproteinorrhachia": "HP:0025457", + "Low CSF total protein": "HP:0025457", + "Decreased CSF albumin concentration": "HP:0025458", + "Low CSF albumin": "HP:0025458", + "Increased CSF/serum albumin ratio": "HP:0025459", + "High myoinositol in brain by MRS": "HP:0025460", + "High myo-inositol in brain by MRS": "HP:0025460", + "Abnormal cell morphology": "HP:0025461", + "obsolete Abnormal cellular physiology": "HP:0025462", + "Abnormality of redox activity": "HP:0025463", + "Increased reactive oxygen species production": "HP:0025464", + "Increased ROS production": "HP:0025464", + "Oxidative stress": "HP:0025464", + "Abnormal circulating beta globulin level": "HP:0025465", + "Beta 2-microglobulinuria": "HP:0025466", + "Anagen effluvium": "HP:0025469", + "Telogen effluvium": "HP:0025470", + "Congenital panfollicular nevus": "HP:0025471", + "Recurrent plantar mycosis": "HP:0025472", + "Hyperpigmented papule": "HP:0025473", + "Erythematous plaque": "HP:0025474", + "Violaceous plaque": "HP:0025474", + "Erythematous macule": "HP:0025475", + "Testicular lipomatosis": "HP:0025476", + "Periarticular calcification": "HP:0025477", + "Atrial standstill": "HP:0025478", + "Silent atrium": "HP:0025478", + "Self-neglect": "HP:0025479", + "Lipomyelomeningocele": "HP:0025480", + "Cervical hemivertebrae": "HP:0025481", + "Positive perchlorate discharge test": "HP:0025482", + "Abnormal circulating thyroglobulin concentration": "HP:0025483", + "Abnormal circulating thyroglobulin level": "HP:0025483", + "Increased circulating thyroglobulin concentration": "HP:0025484", + "Increased circulating thyroglobulin level": "HP:0025484", + "Vaginal adenosis": "HP:0025485", + "Fused labia majora": "HP:0025486", + "Abnormal bladder morphology": "HP:0025487", + "Abnormality of bladder morphology": "HP:0025487", + "Detrusor sphincter dyssynergia": "HP:0025488", + "Bladder duplication": "HP:0025489", + "Myocardial bridging": "HP:0025490", + "Intramyocardial coronary artery course": "HP:0025490", + "Venous stenosis": "HP:0025491", + "Microcoria": "HP:0025492", + "Palmoplantar erythema": "HP:0025493", + "Coated aorta": "HP:0025494", + "Descending aorta hypoplasia": "HP:0025495", + "Abnormal coronary artery physiology": "HP:0025496", + "Coronary artery spasm": "HP:0025497", + "Coronary artery vasospasm": "HP:0025497", + "Aceruloplasminemia": "HP:0025498", + "Aceruloplasminaemia": "HP:0025498", + "Class I obesity": "HP:0025499", + "Obesity grade 1": "HP:0025499", + "Class II obesity": "HP:0025500", + "Obesity grade 2": "HP:0025500", + "Class III obesity": "HP:0025501", + "Obesity grade 3": "HP:0025501", + "Overweight": "HP:0025502", + "Anomalous coronary artery arising from the opposite sinus": "HP:0025503", + "Anomalous origin of the circumflex artery from the right sinus of Valsalva": "HP:0025505", + "Coronary artery sandwich anomaly": "HP:0025506", + "Anomalous coronary artery with aortic origin and course between the great arteries": "HP:0025506", + "Yellow papule": "HP:0025507", + "Yellow-orange papule": "HP:0025507", + "Gottron's papules": "HP:0025508", + "Gottron papules": "HP:0025508", + "Piezogenic pedal papules": "HP:0025509", + "Nevus spilus": "HP:0025510", + "Speckled lentiginous Nevus": "HP:0025510", + "Nevus sebaceus": "HP:0025511", + "Skin-colored papule": "HP:0025512", + "Flesh-colored papule": "HP:0025512", + "Scleral rupture": "HP:0025513", + "Morning glory anomaly": "HP:0025514", + "Morning glory disc anomaly": "HP:0025514", + "Morning glory disk anomaly": "HP:0025514", + "Morning glory optic disc": "HP:0025514", + "Delayed thelarche": "HP:0025515", + "Coronary-pulmonary artery fistula": "HP:0025516", + "Hypoplastic hippocampus": "HP:0025517", + "Small hippocampus": "HP:0025517", + "Underdeveloped hippocampus": "HP:0025517", + "Visual gaze preference": "HP:0025518", + "Multiple biliary hamartomas": "HP:0025519", + "Multiple bile duct hamartomas": "HP:0025519", + "Von Meyenburg complexes": "HP:0025519", + "Biliary hamartoma": "HP:0025519", + "Calcinosis cutis": "HP:0025520", + "Cutaneous calcification": "HP:0025520", + "Increased body fat percentage": "HP:0025521", + "Elongated chordae tendinae of the mitral valve": "HP:0025522", + "Abnormal morphology of the chordae tendinae of the mitral valve": "HP:0025523", + "Palmoplantar scaling skin": "HP:0025524", + "Palmoplantar psoriasis": "HP:0025524", + "Scaling skin on fingertip": "HP:0025525", + "Psoriasiform lesion": "HP:0025526", + "Psoriatic-like lesion": "HP:0025526", + "Erythemato-squamous plaque": "HP:0025526", + "Erythematosquamous plaque": "HP:0025526", + "Serpiginous cutaneous lesion": "HP:0025527", + "Serpiginous eruption": "HP:0025527", + "Annular cutaneous lesion": "HP:0025528", + "Hyperpigmented nodule": "HP:0025529", + "Xanthomas of the palmar creases": "HP:0025530", + "Xanthoma palmare striatum": "HP:0025530", + "Xanthoma striatum palmare": "HP:0025530", + "Harlequin phenomenon": "HP:0025531", + "Positive pathergy test": "HP:0025532", + "Peau d'orange": "HP:0025533", + "Ocular melanocytosis": "HP:0025534", + "Melanosis oculi": "HP:0025534", + "Ocular melanosis": "HP:0025534", + "Shawl sign": "HP:0025535", + "V-sign": "HP:0025536", + "Plantar edema": "HP:0025537", + "Plantar oedema": "HP:0025537", + "Palmar edema": "HP:0025538", + "Palmar oedema": "HP:0025538", + "Abnormal B cell subset distribution": "HP:0025539", + "Abnormal T cell subset distribution": "HP:0025540", + "obsolete Decreased activity of complement receptor": "HP:0025541", + "Abnormal mean corpuscular hemoglobin concentration": "HP:0025546", + "Abnormal MCH": "HP:0025546", + "Abnormal MCHC": "HP:0025546", + "Abnormal mean corpuscular Hb concentration": "HP:0025546", + "Abnormal mean corpuscular haemoglobin": "HP:0025546", + "Abnormal mean corpuscular haemoglobin concentration": "HP:0025546", + "Decreased mean corpuscular hemoglobin concentration": "HP:0025547", + "Decreased MCH": "HP:0025547", + "Decreased MCHC": "HP:0025547", + "Decreased mean corpuscular Hb concentration": "HP:0025547", + "Decreased mean corpuscular haemoglobin": "HP:0025547", + "Decreased mean corpuscular haemoglobin concentration": "HP:0025547", + "Increased mean corpuscular hemoglobin concentration": "HP:0025548", + "Increased MCH": "HP:0025548", + "Increased MCHC": "HP:0025548", + "Increased mean corpuscular Hb concentration": "HP:0025548", + "Increased mean corpuscular haemoglobin": "HP:0025548", + "Increased mean corpuscular haemoglobin concentration": "HP:0025548", + "Eccentric visual fixation": "HP:0025549", + "Eccentric fixation": "HP:0025549", + "Elevated circulating ribitol concentration": "HP:0025550", + "Increased circulating ribitol concentration": "HP:0025550", + "Increased level of ribitol in serum": "HP:0025550", + "Optic nerve misrouting": "HP:0025551", + "Optic pathway misrouting": "HP:0025551", + "Visual pathway misrouting": "HP:0025551", + "Periorbital purpura": "HP:0025552", + "Periorbital ecchymosis with tarsal plate sparing": "HP:0025553", + "Raccoon eyes": "HP:0025553", + "Yellow nodule": "HP:0025554", + "Periungual teleangiectasia": "HP:0025555", + "Lamellar cataract with riders": "HP:0025558", + "Coronary cataract": "HP:0025559", + "Anterior chamber cells": "HP:0025560", + "Anterior chamber cells grade 1+": "HP:0025561", + "Anterior chamber cells grade 0.5+": "HP:0025562", + "Anterior chamber cells grade 0": "HP:0025563", + "Anterior chamber cells grade 2+": "HP:0025564", + "Anterior chamber cells grade 3+": "HP:0025565", + "Anterior chamber cells grade 4+": "HP:0025566", + "Central serous chorioretinopathy": "HP:0025567", + "Abnormal morphology of the choroidal vasculature": "HP:0025568", + "Polypoidal choroidal vasculopathy": "HP:0025569", + "Choroidal vascular hyperpermeability": "HP:0025570", + "Choroidal hyperpermeability": "HP:0025570", + "Christmas tree cataract": "HP:0025571", + "Punctal stenosis": "HP:0025572", + "Lacrimal punctum stenosis": "HP:0025572", + "Stenosis of the lacrimal punctum": "HP:0025572", + "Mild myopia": "HP:0025573", + "Macular hemorrhage": "HP:0025574", + "Macular haemorrhage": "HP:0025574", + "Abnormal superior vena cava morphology": "HP:0025575", + "Abnormal inferior vena cava morphology": "HP:0025576", + "Aortic valve prolapse": "HP:0025578", + "Abnormal left atrium morphology": "HP:0025579", + "Abnormal right atrium morphology": "HP:0025580", + "Foveal hemorrhage": "HP:0025581", + "Foveal haemorrhage": "HP:0025581", + "Submacular hemorrhage": "HP:0025582", + "Sub-macular haemorrhage": "HP:0025582", + "Sub-macular hemorrhage": "HP:0025582", + "Submacular haemorrhage": "HP:0025582", + "Tapetal-like fundal reflex": "HP:0025583", + "Hypotropia": "HP:0025584", + "Hyperphoria": "HP:0025585", + "Hypertropia": "HP:0025586", + "Hyperdeviation": "HP:0025587", + "Hypodeviation": "HP:0025588", + "Cyclodeviation": "HP:0025589", + "Abnormal extraocular muscle physiology": "HP:0025590", + "Abnormal superior oblique muscle physiology": "HP:0025591", + "Superior oblique muscle weakness": "HP:0025592", + "Superior oblique palsy": "HP:0025592", + "Superior oblique muscle restriction": "HP:0025593", + "Superior oblique muscle overaction": "HP:0025594", + "Superior oblique muscle underaction": "HP:0025595", + "Under-depression in adduction": "HP:0025595", + "Abnormal inferior oblique muscle physiology": "HP:0025596", + "Inferior oblique muscle restriction": "HP:0025597", + "Inferior oblique muscle weakness": "HP:0025598", + "Inferior oblique palsy": "HP:0025598", + "Inferior oblique muscle overaction": "HP:0025599", + "Abnormal inferior rectus muscle physiology": "HP:0025600", + "Inferior rectus muscle weakness": "HP:0025601", + "Inferior rectus muscle restriction": "HP:0025602", + "Abnormal superior rectus muscle physiology": "HP:0025603", + "Orbital schwannoma": "HP:0025604", + "Lid lag on downgaze": "HP:0025605", + "Eyelid lag": "HP:0025605", + "Lid lag": "HP:0025605", + "von Graefe sign": "HP:0025605", + "Abnormal medial rectus muscle physiology": "HP:0025606", + "Upper eyelid entropion": "HP:0025607", + "Cicatricial ectropion": "HP:0025608", + "Anterior blepharitis": "HP:0025609", + "Posterior blepharitis": "HP:0025610", + "Meibomian gland dysfunction": "HP:0025610", + "Meibomian gland disease": "HP:0025610", + "Epicanthus superciliaris": "HP:0025611", + "Corneal astigmatism": "HP:0025612", + "Focal emotional seizure": "HP:0025613", + "Affective seizure": "HP:0025613", + "Emotional seizure": "HP:0025613", + "Focal affective seizure": "HP:0025613", + "Partial emotional seizure": "HP:0025613", + "Abscess": "HP:0025615", + "Sterile abscess": "HP:0025616", + "Abnormal plasma cell count": "HP:0025617", + "Reduced plasma cell count": "HP:0025618", + "Elevated plasma cell count": "HP:0025619", + "Abnormal proportion of CD4+ central memory cells": "HP:0025620", + "Abnormal proportion of central memory CD4+, alpha-beta T cells": "HP:0025620", + "obsolete Increased proportion of CD4+ central memory cells": "HP:0025621", + "obsolete Decreased proportion of CD4+ central memory cells": "HP:0025622", + "Abnormal proportion of CD4+ effector memory cells": "HP:0025623", + "Abnormal proportion of CD4-positive effector memory cells": "HP:0025623", + "Abnormal proportion of effector memory CD4-positive, alpha-beta T cells": "HP:0025623", + "Reduced proportion of CD4+ effector memory T cells": "HP:0025624", + "Decreased proportion of CD4+ effector memory T cells": "HP:0025624", + "Decreased proportion of CD4-positive effector memory T cells": "HP:0025624", + "Decreased proportion of effector memory CD4-positive, alpha-beta T cells": "HP:0025624", + "Elevated proportion of CD4+ effector memory T cells": "HP:0025625", + "Increased proportion of CD4+ effector memory T cells": "HP:0025625", + "Increased proportion of CD4-positive effector memory T cells": "HP:0025625", + "Increased proportion of effector CD4-positive, alpha-beta T cells": "HP:0025625", + "Increased circulating oleate level": "HP:0025626", + "Increased circulating octadecanoate level": "HP:0025627", + "Increased circulating myristoleate level": "HP:0025628", + "Anti-myelin-associated glycoprotein antibody positivity": "HP:0025629", + "Argininosuccinic aciduria": "HP:0025630", + "Alpha-aminobutyric aciduria": "HP:0025631", + "Reduced reactive oxygen species production in neutrophils": "HP:0025632", + "Abnormal ureter morphology": "HP:0025633", + "Abnormal ureter physiology": "HP:0025634", + "Ureteral polyp": "HP:0025635", + "Polyp of the ureter": "HP:0025635", + "Ureter polyp": "HP:0025635", + "Endometritis": "HP:0025636", + "Endometrial inflammation": "HP:0025636", + "Inflammation of the inner lining of the uterus": "HP:0025636", + "Vasospasm": "HP:0025637", + "Angiospasm": "HP:0025637", + "Blood vessel spasm": "HP:0025637", + "Vascular spasm": "HP:0025637", + "Elevated urinary N-butyrylglycine": "HP:0025638", + "Increased urinary zinc level": "HP:0025639", + "Abnormal urinary mineral level": "HP:0025640", + "Elevated circulating glycolate concentration": "HP:0025641", + "Tarlov cyst": "HP:0025643", + "Perineural cyst": "HP:0025643", + "Fixation-off epileptiform discharges": "HP:0025644", + "Fixation-off sensitivity": "HP:0025644", + "Bilateral polymicrogyria": "HP:0025646", + "Steroid-sensitive nephrotic syndrome": "HP:0025647", + "SSNS": "HP:0025647", + "Steroid-sensitive nephrotic syndrome with infrequent relapses": "HP:0025648", + "Steroid-sensitive nephrotic syndrome with frequent relapses": "HP:0025649", + "Steroid-dependent nephrotic syndrome": "HP:0025650", + "SDNS": "HP:0025650", + "Abnormal placental adhesion into the uterine wall": "HP:0025652", + "Placenta percreta": "HP:0025653", + "Abnormal placental pentration beyond the uterine wall": "HP:0025653", + "Placenta accreta": "HP:0025654", + "Placenta increta": "HP:0025655", + "Prenatal double bubble sign": "HP:0025656", + "Abnormal umbilical blood flow measurement": "HP:0025657", + "obsolete Abnormal umbilical artery Doppler pattern in pregnancy": "HP:0025658", + "Decreased circulating creatine kinase concentration": "HP:0025659", + "Chiari type II malformation": "HP:0025660", + "Arnold-Chiari type II malformation": "HP:0025660", + "Chiari type III malformation": "HP:0025661", + "Arnold-Chiari type III malformation": "HP:0025661", + "Abnormal fetal skeletal morphology": "HP:0025662", + "Reduced fetal femur/foot length ratio": "HP:0025663", + "Moderate to late preterm birth": "HP:0025664", + "Extremely preterm birth": "HP:0025665", + "Very preterm birth": "HP:0025666", + "Fetal neck anomaly": "HP:0025667", + "Abnormal neck morphology": "HP:0025668", + "Abnormal neck physiology": "HP:0025669", + "Syntelencephaly": "HP:0025670", + "Fetal pericardial effusion": "HP:0025671", + "Fetal skin edema": "HP:0025672", + "Loculated ascites": "HP:0025673", + "Septated ascites": "HP:0025673", + "Meconium pseudocyst": "HP:0025674", + "Premature closure of the ductus arteriosus": "HP:0025675", + "Fetal PAD narrowing-closure": "HP:0025675", + "Fetal PDA narrowing-closure": "HP:0025675", + "Fetal arterial duct narrowing-closure": "HP:0025675", + "Fetal ductus arteriosus narrowing-closure": "HP:0025675", + "Foetal PAD narrowing-closure": "HP:0025675", + "Foetal PDA narrowing-closure": "HP:0025675", + "Foetal arterial duct narrowing-closure": "HP:0025675", + "Foetal ductus arteriosus narrowing-closure": "HP:0025675", + "Idiopathic constriction of the fetal ductus arteriosus": "HP:0025675", + "Idiopathic constriction of the foetal ductus arteriosus": "HP:0025675", + "PCDA": "HP:0025675", + "Fetal pleural effusion": "HP:0025676", + "Fetal chylothorax": "HP:0025677", + "Fetal hydrothorax": "HP:0025678", + "Diskitis": "HP:0025679", + "Discitis": "HP:0025679", + "Compound muscle action potential amplitude facilitation": "HP:0025680", + "CMAP facilitation": "HP:0025680", + "Distal clavicular thinning": "HP:0025681", + "Crouch gait": "HP:0025682", + "Abnormal amyloid beta 42 peptide CSF concentration": "HP:0025683", + "Decreased amyloid beta 42 peptide CSF concentration": "HP:0025684", + "Increased amyloid beta 42 peptide CSF concentration": "HP:0025685", + "Abnormal amyloid beta 40 peptide CSF concentration": "HP:0025686", + "Abnormal Abeta 40 level": "HP:0025686", + "Abnormal beta amyloid 40 level": "HP:0025686", + "Increased amyloid beta 40 peptide CSF concentration": "HP:0025687", + "Abnormal amyloid beta peptide CSF concentration": "HP:0025688", + "Extra-abdominal umbilical vein varix": "HP:0025689", + "Fetal intra-abdominal umbilical vein varix": "HP:0025690", + "FIUVV": "HP:0025690", + "Fetal umbilical vein dilatation": "HP:0025690", + "Foetal umbilical vein dilatation": "HP:0025690", + "Impaired fasting glucose": "HP:0025691", + "Atelencephaly": "HP:0025692", + "Pituitary macroadenoma": "HP:0025693", + "Pituitary gland macroadenoma": "HP:0025693", + "Pituitary microadenoma": "HP:0025694", + "Mucus plug": "HP:0025695", + "Airway casts": "HP:0025696", + "Fibrin casts": "HP:0025697", + "Cellular airway casts": "HP:0025697", + "Diphtheroid membranes": "HP:0025697", + "Pseudomembranes": "HP:0025697", + "Type I airway casts": "HP:0025697", + "Mucin casts": "HP:0025698", + "Acellular airway casts": "HP:0025698", + "Type II airway casts": "HP:0025698", + "Perisylvian FDG hypermetabolism": "HP:0025699", + "Perisylvian hypermetabolism in FDG PET": "HP:0025699", + "Anhydramnios": "HP:0025700", + "Distended jugular lymphatic sacs": "HP:0025701", + "Type 1 schizencephaly": "HP:0025702", + "Trans-mantle schizencephaly": "HP:0025702", + "Type 2 schizencephaly": "HP:0025703", + "Type 3 schizencephaly": "HP:0025704", + "Abnormal fetal nasal bone visualization": "HP:0025705", + "Absent fetal nasal bone": "HP:0025706", + "Absence of fetal nasal bone": "HP:0025706", + "Absence of foetal nasal bone": "HP:0025706", + "Unossified nasal bone": "HP:0025706", + "Hypoplastic fetal nasal bone": "HP:0025707", + "Early young adult onset": "HP:0025708", + "Intermediate young adult onset": "HP:0025709", + "Late young adult onset": "HP:0025710", + "Convergence-retraction nystagmus": "HP:0025711", + "Convergence retraction nystagmus": "HP:0025711", + "Spontaneous chorioamniotic separation": "HP:0025712", + "Amnion-chorion separation": "HP:0025712", + "Neurite dystrophy": "HP:0025713", + "Dystrophic neurite": "HP:0025713", + "Cerebral cortical microinfarct": "HP:0025714", + "Abnormal umbilical artery doppler waveform during pregnancy": "HP:0025715", + "Fetal anemia": "HP:0025716", + "Skeletal muscle autophagosome accumulation": "HP:0025717", + "Autophagic material in muscle biopsy": "HP:0025717", + "Skeletal muscle hyperechogenicity": "HP:0025718", + "Hyperechoic muscle": "HP:0025718", + "Muscle ultrasound hyperechogenicity": "HP:0025718", + "Maternal vascular malperfusion": "HP:0025719", + "Limited horizontal extraocular movement": "HP:0025720", + "Limited vertical extraocular movement": "HP:0025721", + "Cerebral infarct": "HP:0025722", + "Abnormal fetal skin morphology": "HP:0025723", + "Caseous vernix-like desquamation": "HP:0025724", + "Greasy, thick vernix caseosa-like scale": "HP:0025724", + "Type 1 congenital pulmonary airway malformation": "HP:0025725", + "Type 2 congenital pulmonary airway malformation": "HP:0025726", + "Type 3 congenital pulmonary airway malformation": "HP:0025727", + "Periventricular pseudocyst": "HP:0025728", + "Fetal vascular malperfusion": "HP:0025729", + "Foramen ovale aneurysm": "HP:0025730", + "Fetal atrial septal dilatation": "HP:0025730", + "Foetal atrial septal dilatation": "HP:0025730", + "Redundant septum primum flap": "HP:0025730", + "Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity": "HP:0025731", + "Anti-GPIHBP1 antibody positivity": "HP:0025731", + "Abnormal social development": "HP:0025732", + "Streak gonad": "HP:0025733", + "Elevated urinary 5-hydroxyhexanoic acid level": "HP:0025734", + "Abnormal third cranial nerve morphology": "HP:0025735", + "Long-bone fracture": "HP:0025736", + "Abnormal subthalamic nucleus morphology": "HP:0025737", + "Ring-enhancing cerebral lesion": "HP:0025738", + "Optic nerve mass": "HP:0025739", + "Elevated brain succinate level by MRS": "HP:0025740", + "Elevated brain succinate level by magnetic resonance spectroscopy": "HP:0025740", + "Brainstem lucency": "HP:0025741", + "Brainstem lucencies": "HP:0025741", + "Elevated urine L-xylulose level": "HP:0025742", + "Elevated urine biliverdin level": "HP:0025743", + "Elevated urine dodecanedioic acid level": "HP:0025744", + "Abnormal urine amino acid level": "HP:0025745", + "Diminished urine glutamine level": "HP:0025746", + "Tongue spasticity": "HP:0025747", + "Restricted tongue movement": "HP:0025748", + "Asymmetric blood pressure between limbs": "HP:0025749", + "Asymmetric blood pressure between legs": "HP:0025750", + "Reduced anterior scleral thickness": "HP:0025751", + "Reduced posterior scleral thickness": "HP:0025752", + "Elevated urinary 2-aminoisobutyric acid": "HP:0025753", + "Reduced beta-hexosaminidase A activity": "HP:0025754", + "Hexosaminidase A deficiency": "HP:0025754", + "Abnormal nail shape": "HP:0025755", + "Abnormal nail attachment": "HP:0025756", + "Abnormal nail surface": "HP:0025757", + "Characteristic of mass": "HP:0025758", + "Mobile lump": "HP:0025759", + "Mobile mass": "HP:0025759", + "Immobile lump": "HP:0025760", + "Immobile mass": "HP:0025760", + "Painless mass": "HP:0025761", + "Anti-ganglionic acetylcholine receptor antibody positivity": "HP:0025762", + "Positive urine anion gap": "HP:0025763", + "Nasoethmoidal encephalocele": "HP:0025764", + "Rubber-like lump": "HP:0025765", + "Rubber-like mass": "HP:0025765", + "Abnormal affect": "HP:0025766", + "Abnormal positive emotional state": "HP:0025767", + "Positive emotion disturbance": "HP:0025767", + "Inappropriate elation": "HP:0025768", + "Disordered formal thought process": "HP:0025769", + "Formal thought disorder": "HP:0025769", + "Disorganized speech or communication": "HP:0025769", + "2-3 finger osseus syndactyly": "HP:0025770", + "Ruminations": "HP:0025771", + "Abnormal lexical patterns": "HP:0025772", + "Abnormal semantics": "HP:0025773", + "Idiosyncratic use of words": "HP:0025774", + "Ascribing novel meanings to words": "HP:0025774", + "Tangential speech": "HP:0025775", + "Circumstantiality": "HP:0025775", + "Tangentiality": "HP:0025775", + "Thought insertion": "HP:0025776", + "Thought broadcasting": "HP:0025777", + "Thought echo": "HP:0025778", + "Echo de pensee": "HP:0025778", + "Gedankenlautverden": "HP:0025778", + "Disorder of thought content": "HP:0025779", + "Abnormal thought pattern": "HP:0025779", + "Abnormal volitional state": "HP:0025780", + "Abnormal energy": "HP:0025780", + "Abnormal motivation": "HP:0025780", + "Abnormally rapid thought process": "HP:0025781", + "Abnormally rapid thought processes": "HP:0025781", + "Rapid thought process": "HP:0025781", + "Abnormal syntax": "HP:0025782", + "Diagnostic behavioral phenotype": "HP:0025783", + "Word salad": "HP:0025784", + "Random stream of words with no logic": "HP:0025784", + "Abnormal preoccupation": "HP:0025785", + "Intraosseous lipoma": "HP:0025786", + "Bone lipoma": "HP:0025786", + "Bony lipoma": "HP:0025786", + "Intra-osseous lipoma": "HP:0025786", + "Lipoma of bone": "HP:0025786", + "Paraphilia": "HP:0025787", + "Paraphilias": "HP:0025787", + "Radiographic modifier": "HP:0025788", + "Radiographic quality": "HP:0025788", + "Radiolucent": "HP:0025789", + "Radiolucent appearance": "HP:0025789", + "Radiolucent character": "HP:0025789", + "Radiodense": "HP:0025790", + "Delusion of guilt": "HP:0025791", + "Abnormal cognitive process": "HP:0025792", + "Abnormal change in sexual drive": "HP:0025793", + "Reduced MHC I cell surface expression": "HP:0025794", + "Reduced cell surface expression of class I HLA antigens": "HP:0025794", + "Positive urine infectious agent test": "HP:0025795", + "Positive urine Legionella pneumophila antigen test": "HP:0025796", + "Unilateral sensorineural hearing impairment": "HP:0025797", + "Abnormal wrist morphology": "HP:0025798", + "Abnormal wrist physiology": "HP:0025799", + "Wrist instability": "HP:0025800", + "Nail elevation": "HP:0025801", + "Talipes varus": "HP:0025802", + "Pes adductus": "HP:0025802", + "Pes varus": "HP:0025802", + "Mucocutaneous lesion painful": "HP:0025803", + "Skin or mucosal lesions painful": "HP:0025803", + "Painful lymphadenopathy": "HP:0025804", + "Lymph node pain": "HP:0025804", + "EMG: repetitive nerve stimulation abnormality": "HP:0030000", + "Lagophthalmos": "HP:0030001", + "Eyelids stay open": "HP:0030001", + "Inability to close the eyelids": "HP:0030001", + "Nocturnal lagophthalmos": "HP:0030002", + "Eyelids stay open at night": "HP:0030002", + "Inability to close the eyelids at night": "HP:0030002", + "Paralytic lagophthalmos": "HP:0030003", + "Cicatricial lagophthalmos": "HP:0030004", + "Eyelids stay open due to scarring": "HP:0030004", + "Inability to close the eyelids due to scarring": "HP:0030004", + "Capillary leak": "HP:0030005", + "Increased capillary permeability": "HP:0030005", + "Systemic capillary leak syndrome": "HP:0030005", + "Single fiber EMG abnormality": "HP:0030006", + "Single fibre EMG abnormality": "HP:0030006", + "EMG: positive sharp waves": "HP:0030007", + "Cervical agenesis": "HP:0030008", + "Absent cervix": "HP:0030008", + "Aplasia of the cervix": "HP:0030008", + "Cervical aplasia": "HP:0030008", + "Cervical insufficiency": "HP:0030009", + "Incompetent cervix": "HP:0030009", + "Hydrometrocolpos": "HP:0030010", + "Imperforate hymen": "HP:0030011", + "Abnormal female reproductive system physiology": "HP:0030012", + "Abnormal female genital system physiology": "HP:0030012", + "obsolete Endometriosis": "HP:0030013", + "Female sexual dysfunction": "HP:0030014", + "Female anorgasmia": "HP:0030015", + "Female orgasmic disorder": "HP:0030015", + "Dyspareunia": "HP:0030016", + "Vaginismus": "HP:0030017", + "Myalgia of pelvic floor": "HP:0030017", + "Pelvic floor myalgia": "HP:0030017", + "Decreased female libido": "HP:0030018", + "Decreased female sex drive": "HP:0030018", + "Increased female libido": "HP:0030019", + "Increased female sex drive": "HP:0030019", + "Auricular tag": "HP:0030021", + "Question mark ear": "HP:0030022", + "Constricted ear": "HP:0030022", + "Cosman ear": "HP:0030022", + "Question mark ears": "HP:0030022", + "Quelprud nodule": "HP:0030023", + "Pretragal ectopia": "HP:0030024", + "Extra cartilage in front of the ear": "HP:0030024", + "Pretragal Duplication": "HP:0030024", + "Auricular pit": "HP:0030025", + "Squared superior portion of helix": "HP:0030026", + "Abnormal nasal cartilage morphology": "HP:0030027", + "Abnormality of cartilage of nose": "HP:0030027", + "Abnormality of the nasal cartilage": "HP:0030027", + "Anomaly of cartilage of nose": "HP:0030027", + "Anomaly of nasal cartilage": "HP:0030027", + "Deformity of cartilage of nose": "HP:0030027", + "Deformity of nasal cartilage": "HP:0030027", + "Malformation of cartilage of nose": "HP:0030027", + "Malformation of nasal cartilage": "HP:0030027", + "Absent nasal cartilage": "HP:0030028", + "Absent cartilage of nose": "HP:0030028", + "Agenesis of cartilage of nose": "HP:0030028", + "Agenesis of nasal cartilage": "HP:0030028", + "Failure of development of cartilage of nose": "HP:0030028", + "Failure of development of nasal cartilage": "HP:0030028", + "Missing cartilage of nose": "HP:0030028", + "Missing nasal cartilage": "HP:0030028", + "Splayed fingers": "HP:0030029", + "Spreading of the fingers": "HP:0030029", + "Absent ray": "HP:0030030", + "Small toe": "HP:0030031", + "Partial absence of foot": "HP:0030032", + "Small finger": "HP:0030033", + "Glomerular basement membrane lamellation": "HP:0030034", + "Lamellated/basket-woven thickened glomerular basement membranes": "HP:0030034", + "Lamellation of the glomerular basement membrane": "HP:0030034", + "Struvite nephrolithiasis": "HP:0030035", + "Struvite kidney stones": "HP:0030035", + "Isothenuria": "HP:0030036", + "Bifid ureter": "HP:0030037", + "Enchondroma": "HP:0030038", + "Fused thoracic vertebrae": "HP:0030039", + "Fused lumbar vertebrae": "HP:0030040", + "Schmorl's node": "HP:0030041", + "Schmorl's nodes": "HP:0030041", + "Incomplete ossification of pubis": "HP:0030042", + "Incomplete maturation of the pubic bone": "HP:0030042", + "Hip subluxation": "HP:0030043", + "Partial hip dislocation": "HP:0030043", + "Subluxation involving the hip joint": "HP:0030043", + "Flexion contracture of digit": "HP:0030044", + "Serpentine fibula": "HP:0030045", + "S-shaped calf bone": "HP:0030045", + "Hypoglycosylation of alpha-dystroglycan": "HP:0030046", + "Abnormal lateral ventricle morphology": "HP:0030047", + "Abnormality of lateral ventricle": "HP:0030047", + "Colpocephaly": "HP:0030048", + "Brain abscess": "HP:0030049", + "Narcolepsy": "HP:0030050", + "Tip-toe gait": "HP:0030051", + "Tiptoe gait": "HP:0030051", + "Toe walking": "HP:0030051", + "Walking on tiptoes": "HP:0030051", + "Inguinal freckling": "HP:0030052", + "Freckles in groin region": "HP:0030052", + "Stiff skin": "HP:0030053", + "Indurated skin": "HP:0030053", + "Skin induration": "HP:0030053", + "Perifollicular fibrosis": "HP:0030054", + "Hyperconvex toenail": "HP:0030055", + "Uncombable hair": "HP:0030056", + "Autoimmune antibody positivity": "HP:0030057", + "Sickled erythrocytes": "HP:0030058", + "Mitochondrial depletion": "HP:0030059", + "Nervous tissue neoplasm": "HP:0030060", + "Neuroectodermal neoplasm": "HP:0030061", + "Craniopharyngioma": "HP:0030062", + "Neuroepithelial neoplasm": "HP:0030063", + "Neurocytoma": "HP:0030064", + "Primitive neuroectodermal tumor": "HP:0030065", + "Primitive neuroectodermal tumour": "HP:0030065", + "Ependymoblastoma": "HP:0030066", + "Peripheral primitive neuroectodermal neoplasm": "HP:0030067", + "Olfactory esthesioneuroblastoma": "HP:0030068", + "Primary central nervous system lymphoma": "HP:0030069", + "Primary CNS lymphoma": "HP:0030069", + "Central primitive neuroectodermal tumor": "HP:0030070", + "Central primitive neuroectodermal tumour": "HP:0030070", + "Medulloepithelioma": "HP:0030071", + "Paranasal sinus neoplasm": "HP:0030072", + "Neoplasm of the paranasal sinuses": "HP:0030072", + "Tumor of the paranasal sinuses": "HP:0030072", + "Tumour of the paranasal sinuses": "HP:0030072", + "obsolete Pharyngeal neoplasm": "HP:0030073", + "Chemodectoma": "HP:0030074", + "Chemodectomas": "HP:0030074", + "Ductal carcinoma in situ": "HP:0030075", + "Lobular carcinoma in situ": "HP:0030076", + "Bronchial neoplasm": "HP:0030077", + "Lung adenocarcinoma": "HP:0030078", + "Cervix cancer": "HP:0030079", + "Burkitt lymphoma": "HP:0030080", + "Punctate periventricular T2 hyperintense foci": "HP:0030081", + "Abnormal drinking behavior": "HP:0030082", + "Abnormal drinking behaviour": "HP:0030082", + "Salt craving": "HP:0030083", + "Clinodactyly": "HP:0030084", + "Curvature of digit": "HP:0030084", + "Permanent curving of the finger": "HP:0030084", + "Abnormal CSF lactate concentration": "HP:0030085", + "Abnormal CSF lactate level": "HP:0030085", + "Reduced CSF lactate": "HP:0030086", + "Hypolactatorachia": "HP:0030086", + "Abnormal circulating testosterone concentration": "HP:0030087", + "Abnormal testosterone level": "HP:0030087", + "Abnormal serum testosterone level": "HP:0030087", + "Increased serum testosterone level": "HP:0030088", + "Increased testosterone": "HP:0030088", + "High serum testosterone level": "HP:0030088", + "High serum testosterone levels": "HP:0030088", + "Increased serum testosterone levels": "HP:0030088", + "Abnormal muscle fiber protein expression": "HP:0030089", + "Abnormal muscle fibre protein expression": "HP:0030089", + "Abnormal muscle fiber merosin expression": "HP:0030090", + "Abnormal muscle fibre merosin expression": "HP:0030090", + "Absent muscle fiber merosin": "HP:0030091", + "Absent merosin staining in muscle biopsy": "HP:0030091", + "Absent muscle fiber laminin alpha 2": "HP:0030091", + "Absent muscle fibre laminin alpha 2": "HP:0030091", + "Absent muscle fibre merosin": "HP:0030091", + "Reduced muscle fiber merosin": "HP:0030092", + "Reduced muscle fibre merosin": "HP:0030092", + "Abnormal muscle fiber laminin beta 1": "HP:0030093", + "Abnormal muscle fibre laminin beta 1": "HP:0030093", + "Reduced muscle fiber laminin beta 1": "HP:0030094", + "Reduced muscle fibre laminin beta 1": "HP:0030094", + "Reduced muscle collagen VI": "HP:0030095", + "Reduced collagen 6 in muscle": "HP:0030095", + "Reduced collagen VI immunolabeling in muscle biopsy": "HP:0030095", + "Abnormal muscle fiber dystrophin expression": "HP:0030096", + "Abnormal muscle fibre dystrophin expression": "HP:0030096", + "Absent muscle dystrophin expression": "HP:0030097", + "Reduced muscle dystrophin expression": "HP:0030098", + "Reduced dystrophin staining in muscle": "HP:0030098", + "Reduced muscle fiber alpha dystroglycan": "HP:0030099", + "Reduced muscle fibre alpha dystroglycan": "HP:0030099", + "Abnormal muscle fiber alpha sarcoglycan": "HP:0030100", + "Abnormal muscle fibre alpha sarcoglycan": "HP:0030100", + "Absent muscle fiber alpha sarcoglycan": "HP:0030101", + "Absent muscle fibre alpha sarcoglycan": "HP:0030101", + "Reduced muscle fiber alpha sarcoglycan": "HP:0030102", + "Reduced muscle fibre alpha sarcoglycan": "HP:0030102", + "Abnormal muscle fiber beta sarcoglycan": "HP:0030103", + "Abnormal muscle fibre beta sarcoglycan": "HP:0030103", + "Abnormal muscle fiber gamma sarcoglycan": "HP:0030104", + "Abnormal muscle fibre gamma sarcoglycan": "HP:0030104", + "Abnormal muscle fiber delta sarcoglycan": "HP:0030105", + "Abnormal muscle fibre delta sarcoglycan": "HP:0030105", + "Absent muscle fiber beta sarcoglycan": "HP:0030106", + "Absent muscle fibre beta sarcoglycan": "HP:0030106", + "Reduced muscle fiber beta sarcoglycan": "HP:0030107", + "Reduced muscle fibre beta sarcoglycan": "HP:0030107", + "Reduced muscle fiber gamma sarcoglycan": "HP:0030108", + "Reduced muscle fibre gamma sarcoglycan": "HP:0030108", + "Absent muscle fiber gamma sarcoglycan": "HP:0030109", + "Absent muscle fibre gamma sarcoglycan": "HP:0030109", + "Absent muscle fiber delta sarcoglycan": "HP:0030110", + "Absent muscle fibre delta sarcoglycan": "HP:0030110", + "Reduced muscle fiber delta sarcoglycan": "HP:0030111", + "Reduced muscle fibre delta sarcoglycan": "HP:0030111", + "Abnormal muscle fiber alpha dystroglycan": "HP:0030112", + "Abnormal muscle fibre alpha dystroglycan": "HP:0030112", + "Abnormal muscle fiber dysferlin": "HP:0030113", + "Abnormal muscle fibre dysferlin": "HP:0030113", + "Absent muscle fiber dysferlin": "HP:0030114", + "Absent muscle fibre dysferlin": "HP:0030114", + "Reduced muscle fiber dysferlin": "HP:0030115", + "Reduced muscle fibre dysferlin": "HP:0030115", + "Abnormal muscle fiber emerin": "HP:0030116", + "Abnormal muscle fibre emerin": "HP:0030116", + "Absent muscle fiber emerin": "HP:0030117", + "Absent muscle fibre emerin": "HP:0030117", + "Reduced muscle fiber emerin": "HP:0030118", + "Reduced muscle fibre emerin": "HP:0030118", + "Abnormal muscle fiber calpain-3": "HP:0030119", + "Abnormal muscle fibre calpain-3": "HP:0030119", + "Absent muscle fiber calpain-3": "HP:0030120", + "Absent muscle fibre calpain-3": "HP:0030120", + "Reduced muscle fiber calpain-3": "HP:0030121", + "Reduced muscle fibre calpain-3": "HP:0030121", + "Reduced muscle fiber perlecan": "HP:0030122", + "Reduced muscle fibre perlecan": "HP:0030122", + "Abnormal muscle fiber lamin A/C": "HP:0030123", + "Abnormal muscle fibre lamin A/C": "HP:0030123", + "Reduced muscle fiber lamin A/C": "HP:0030124", + "Reduced muscle fibre lamin A/C": "HP:0030124", + "Sacralization of the fifth lumbar vertebra": "HP:0030125", + "L5 sacralization": "HP:0030125", + "Abnormal endometrium morphology": "HP:0030126", + "Abnormality of the endometrium": "HP:0030126", + "Endometriosis": "HP:0030127", + "Impaired ristocetin cofactor assay activity": "HP:0030129", + "Impaired von Willebrand factor collagen binding activity": "HP:0030130", + "Abnormal von Willebrand factor multimer distribution": "HP:0030131", + "Absence of large von Willebrand factor multimers": "HP:0030132", + "Abnormal presence of ultra-large von Willebrand factor multimers": "HP:0030133", + "Total absence von Willebrand factor multimers": "HP:0030134", + "Absence of intermediate von Willebrand factor multimers": "HP:0030135", + "Enhanced ristocetin cofactor assay activity": "HP:0030136", + "Prolonged bleeding following circumcision": "HP:0030137", + "Excessive bleeding from superficial cuts": "HP:0030138", + "Excessive bleeding after a venipuncture": "HP:0030139", + "Oral cavity bleeding": "HP:0030140", + "Bleeding from mouth": "HP:0030140", + "Oral cavity haemorrhage": "HP:0030140", + "Oral cavity hemorrhage": "HP:0030140", + "Abnormality of the posterior hairline": "HP:0030141", + "Abnormality of hairline at back of head": "HP:0030141", + "Abnormal bowel sounds": "HP:0030142", + "Hyperactive bowel sounds": "HP:0030143", + "Borborygmi": "HP:0030143", + "Increased bowel sounds": "HP:0030143", + "Hypoactive bowel sounds": "HP:0030144", + "Decreased bowel sounds": "HP:0030144", + "Lack of bowel sounds": "HP:0030145", + "Abnormal liver parenchyma morphology": "HP:0030146", + "Truncal titubation": "HP:0030147", + "Heart murmur": "HP:0030148", + "Cardiac murmur": "HP:0030148", + "Cardiac murmurs": "HP:0030148", + "Heart murmurs": "HP:0030148", + "Cardiogenic shock": "HP:0030149", + "Cardiovascular shock": "HP:0030149", + "Plasmacytosis": "HP:0030150", + "Cholangitis": "HP:0030151", + "Bile duct inflammation": "HP:0030151", + "obsolete Biliary tract neoplasm": "HP:0030152", + "Cholangiocarcinoma": "HP:0030153", + "Bile duct cancer": "HP:0030153", + "Gallbladder perforation": "HP:0030154", + "Gall bladder perforation": "HP:0030154", + "Scrotal pain": "HP:0030155", + "Bence Jones Proteinuria": "HP:0030156", + "Flank pain": "HP:0030157", + "Kidney pain": "HP:0030157", + "Cervical ectropion": "HP:0030158", + "Cervical ectopy": "HP:0030158", + "Cervical erosion": "HP:0030158", + "Cervical polyp": "HP:0030159", + "Cervical tumor": "HP:0030159", + "Cervical tumour": "HP:0030159", + "Cervicitis": "HP:0030160", + "Uterine cervicitis": "HP:0030160", + "Uterine cervix inflammation": "HP:0030160", + "Vaginal pruritus": "HP:0030161", + "Glomerulomegaly": "HP:0030162", + "Glomeruli enlarged": "HP:0030162", + "Abnormal vascular physiology": "HP:0030163", + "Jaw claudication": "HP:0030164", + "Jaw pain while chewing": "HP:0030164", + "Temporal artery tortuosity": "HP:0030165", + "Night sweats": "HP:0030166", + "Nocturnal hyperhidrosis": "HP:0030166", + "Antimitochondrial antibody positivity": "HP:0030167", + "Serum antimitochrondrial antibodies": "HP:0030167", + "Dilated superficial abdominal veins": "HP:0030168", + "Dilatation of the superficial abdominal veins": "HP:0030168", + "Gastric varix": "HP:0030169", + "Gastric varices": "HP:0030169", + "Cystic artery pseudoaneurysm": "HP:0030170", + "Perirenal hematoma": "HP:0030171", + "Peripheral amyelination": "HP:0030172", + "Peripheral hypermyelination": "HP:0030173", + "Increased peripheral myelination": "HP:0030173", + "Increased peripheral myelin thickness": "HP:0030174", + "Myelin tomacula": "HP:0030175", + "Tomacula": "HP:0030175", + "Asymmetric peripheral demyelination": "HP:0030176", + "Abnormality of peripheral nervous system electrophysiology": "HP:0030177", + "Abnormal nerve conduction study": "HP:0030177", + "Abnormality of central nervous system electrophysiology": "HP:0030178", + "Abnormality of CNS electrophysiology": "HP:0030178", + "Abnormal peripheral action potential amplitude": "HP:0030179", + "Oppenheim reflex": "HP:0030180", + "Oppenheim sign": "HP:0030180", + "Gordon reflex": "HP:0030181", + "Gordon sign": "HP:0030181", + "Tetraplegia/tetraparesis": "HP:0030182", + "Impaired visually enhanced vestibulo-ocular reflex": "HP:0030183", + "VVOR impairment": "HP:0030183", + "Visually enhanced vestibulo-ocular reflex impairment": "HP:0030183", + "Isometric tremor": "HP:0030185", + "Dystonia tremor": "HP:0030185", + "Kinetic tremor": "HP:0030186", + "Essential tremor": "HP:0030186", + "Titubation": "HP:0030187", + "Tremor by anatomical site": "HP:0030188", + "Tremor of a body part": "HP:0030188", + "Oral motor hypotonia": "HP:0030190", + "Abnormal peripheral nervous system synaptic transmission": "HP:0030191", + "Abnormal PNS synaptic transmission": "HP:0030191", + "Fatigable weakness of bulbar muscles": "HP:0030192", + "Fatigable weakness of chewing muscles": "HP:0030193", + "Fatigable weakness of speech muscles": "HP:0030194", + "Fatigable weakness of swallowing muscles": "HP:0030195", + "Fatigable weakness of respiratory muscles": "HP:0030196", + "Fatigable weakness of skeletal muscles": "HP:0030197", + "Fatigable weakness of distal limb muscles": "HP:0030198", + "Fatigable weakness of neck muscles": "HP:0030199", + "Fatiguable weakness of proximal limb muscles": "HP:0030200", + "Response to drugs acting on neuromuscular transmission": "HP:0030201", + "Favorable response of weakness to acetylcholine esterase inhibitors": "HP:0030202", + "Favourable response of weakness to acetylcholine esterase inhibitors": "HP:0030202", + "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors": "HP:0030203", + "Unfavourable response of muscle weakness to acetylcholine esterase inhibitors": "HP:0030203", + "Increased jitter at single fiber EMG": "HP:0030205", + "Increased jitter at single fibre EMG": "HP:0030205", + "Increased jitter at single fibre electromyography": "HP:0030205", + "EMG: incremental response of compound muscle action potential to repetitive nerve stimulation": "HP:0030206", + "Paradoxical respiration": "HP:0030207", + "Paradoxical breathing": "HP:0030207", + "Flail chest": "HP:0030207", + "Anti-neuromuscular Junction acetylcholine receptor antibody positivity": "HP:0030208", + "Acetylcholine receptor antibody positivity": "HP:0030208", + "Anti-AChR antibody positivity": "HP:0030208", + "Calcium channel antibody positivity": "HP:0030209", + "Ca channel antibody positivity": "HP:0030209", + "Ca2+ channel antibody positivity": "HP:0030209", + "Anti-muscle-specific tyrosine kinase antibody": "HP:0030210", + "Anti-MUSK antibodies": "HP:0030210", + "Muscle specific kinase antibody positivity": "HP:0030210", + "Slow pupillary light response": "HP:0030211", + "Sluggish pupillary reaction": "HP:0030211", + "Sluggish pupillary reactions to light": "HP:0030211", + "Collectionism": "HP:0030212", + "Collecting": "HP:0030212", + "Compulsive hoarding": "HP:0030212", + "Hoarding": "HP:0030212", + "Emotional dearth": "HP:0030213", + "Emotional blunting": "HP:0030213", + "Inability to feel emotions": "HP:0030213", + "obsolete Hypersexuality": "HP:0030214", + "Inappropriate crying": "HP:0030215", + "Cry frequently for no reason": "HP:0030215", + "Cry frequently without apparent cause": "HP:0030215", + "Cry frequently without cause": "HP:0030215", + "Cry frequently without reason": "HP:0030215", + "Frequently cries for no reason": "HP:0030215", + "Frequently cries without apparent cause": "HP:0030215", + "Frequently cries without cause": "HP:0030215", + "Frequently cries without reason": "HP:0030215", + "Inertia": "HP:0030216", + "Limb apraxia": "HP:0030217", + "Punding": "HP:0030218", + "Semantic dementia": "HP:0030219", + "Trouble remembering words": "HP:0030219", + "Socially inappropriate behavior": "HP:0030220", + "Socially inappropriate behaviour": "HP:0030220", + "Sweet craving": "HP:0030221", + "Visual agnosia": "HP:0030222", + "Perseverative thought": "HP:0030223", + "Perseveration": "HP:0030223", + "Perseverative behavior": "HP:0030223", + "Perseverative behaviour": "HP:0030223", + "Abnormal muscle fiber desmin": "HP:0030224", + "Abnormal muscle fibre desmin": "HP:0030224", + "Accumulation of muscle fiber desmin": "HP:0030225", + "Accumulation of muscle fibre desmin": "HP:0030225", + "Muscle fiber desmin-reactive inclusion bodies": "HP:0030225", + "Muscle fibre desmin-reactive inclusion bodies": "HP:0030225", + "Abnormal muscle fiber myotilin": "HP:0030226", + "Abnormal muscle fibre myotilin": "HP:0030226", + "Accumulation of muscle fiber myotilin": "HP:0030227", + "Accumulation of muscle fibre myotilin": "HP:0030227", + "Abnormal muscle fiber valosin-containing protein": "HP:0030228", + "Abnormal muscle fibre valosin-containing protein": "HP:0030228", + "Accumulation of muscle fiber valosin-containing protein": "HP:0030229", + "Accumulation of muscle fibre valosin-containing protein": "HP:0030229", + "Central core regions in muscle fibers": "HP:0030230", + "Central core regions in muscle fibres": "HP:0030230", + "Glycogen accumulation in muscle fiber lysosomes": "HP:0030231", + "Glycogen accumulation in muscle fibre lysosomes": "HP:0030231", + "Increased sarcoplasmic glycogen": "HP:0030232", + "Bethlem sign": "HP:0030233", + "Bethlem phenomenon": "HP:0030233", + "Highly elevated creatine kinase": "HP:0030234", + "Highly elevated CPK": "HP:0030234", + "Highly elevated creatine phosphokinase": "HP:0030234", + "Highly elevated serum CK": "HP:0030234", + "Highly elevated serum CPK": "HP:0030234", + "Highly elevated serum phosph-CK": "HP:0030234", + "Extremely elevated creatine kinase": "HP:0030235", + "Extremely elevated CPK": "HP:0030235", + "Extremely elevated creatine phosphokinase": "HP:0030235", + "Extremely elevated phospho-CK serum level": "HP:0030235", + "Extremely elevated serum CK level": "HP:0030235", + "Extremely high CPK level": "HP:0030235", + "Abnormality of muscle size": "HP:0030236", + "Hand muscle weakness": "HP:0030237", + "Hypoplasia of the upper arm musculature": "HP:0030239", + "Underdeveloped upper arm muscles": "HP:0030239", + "Hypoplasia of deltoid muscle": "HP:0030241", + "Deltoid muscle hypoplasia": "HP:0030241", + "Portal vein thrombosis": "HP:0030242", + "Blood clot in portal vein": "HP:0030242", + "Hepatic vein thrombosis": "HP:0030243", + "Blood clot in liver vein": "HP:0030243", + "Hepatic venous thrombosis": "HP:0030243", + "Maternal fever in pregnancy": "HP:0030244", + "Maternal fever during pregnancy": "HP:0030244", + "Intrapartum fever": "HP:0030245", + "Maternal fever during labor": "HP:0030245", + "Maternal fever during labour": "HP:0030245", + "Maternal first trimester fever": "HP:0030246", + "Splanchnic vein thrombosis": "HP:0030247", + "Blood clot in splanchnic vein": "HP:0030247", + "Mesenteric venous thrombosis": "HP:0030248", + "Blood clot in mesentertic vein": "HP:0030248", + "Enanthema": "HP:0030249", + "Pulmonary granulomatosis": "HP:0030250", + "Absence of memory B cells": "HP:0030251", + "Absent circulating B cells": "HP:0030252", + "Absence of mature B cells": "HP:0030252", + "Defective T cell proliferation": "HP:0030253", + "Nail bed hemorrhage": "HP:0030254", + "Nail bed haemorrhage": "HP:0030254", + "Large intestinal polyposis": "HP:0030255", + "Small intestinal polyposis": "HP:0030256", + "Freckled genitalia": "HP:0030257", + "Genitalia, ephelides": "HP:0030257", + "Hyperpigmented genitalia": "HP:0030258", + "Increased genital pigmentation": "HP:0030258", + "Penile melanosis": "HP:0030258", + "Hypopigmented genitalia": "HP:0030259", + "Decreased genital pigmentation": "HP:0030259", + "Microphallus": "HP:0030260", + "Absent penis": "HP:0030261", + "Aphallia": "HP:0030261", + "Aplasia of the penis": "HP:0030261", + "Penis aplasia": "HP:0030261", + "Narrow penis": "HP:0030262", + "Torsion of the penis": "HP:0030263", + "Webbed penis": "HP:0030264", + "Wide penis": "HP:0030265", + "obsolete Abnormality of the sacroiliac notch": "HP:0030266", + "Calcification of the interosseus membrane of the forearm": "HP:0030267", + "Interosseous membrane calcification of forearm": "HP:0030267", + "Hyperplastic callus formation": "HP:0030268", + "Increased circulating insulin-like growth factor 1 concentration": "HP:0030269", + "Elevated serum IGF1": "HP:0030269", + "Increased serum IGF1": "HP:0030269", + "Increased serum insulin-like growth factor 1": "HP:0030269", + "Elevated red cell adenosine deaminase activity": "HP:0030270", + "Reduced erythrocyte 2,3-diphosphoglycerate concentration": "HP:0030271", + "Abnormal erythrocyte enzyme concentration or activity": "HP:0030272", + "Abnormal erythrocyte enzyme level": "HP:0030272", + "Reduced red cell adenosine deaminase level": "HP:0030273", + "Accessory scrotum": "HP:0030274", + "Extra scrotum": "HP:0030274", + "Ectopic scrotum": "HP:0030275", + "Abnormal scrotum position": "HP:0030275", + "obsolete Small scrotum": "HP:0030276", + "Abnormal vertebral pedicle morphology": "HP:0030277", + "Hypoplastic vertebral pedicle": "HP:0030278", + "Hypoplastic L5 vertebral pedicle": "HP:0030279", + "Rib gap": "HP:0030280", + "Cervical C3/C4 vertebral fusion": "HP:0030281", + "Posterior rib gap": "HP:0030282", + "Dorsal rib defect": "HP:0030282", + "Partial absence of the septum pellucidum": "HP:0030283", + "Triangular tongue": "HP:0030284", + "Triangle shaped tongue": "HP:0030284", + "Splayed superior cerebellar peduncle": "HP:0030285", + "Atrophic superior cerebellar peduncle": "HP:0030286", + "Flattened femoral epiphysis": "HP:0030289", + "Flattended end part of thigh bone": "HP:0030289", + "Unossified sacrum": "HP:0030290", + "Absence of sacrum ossification": "HP:0030290", + "Lower-limb metaphyseal irregularity": "HP:0030291", + "Tibial metaphyseal irregularity": "HP:0030292", + "Fibular metaphyseal irregularity": "HP:0030293", + "Irregularity of wide portion of calf bone": "HP:0030293", + "Metaphyseal chondromatosis of tibia": "HP:0030294", + "Metaphyseal chondromatosis of femur": "HP:0030295", + "Metaphyseal chondromatosis of radius": "HP:0030296", + "Metaphyseal chondromatosis of ulna": "HP:0030297", + "Metaphyseal chondromatosis of humerus": "HP:0030298", + "Abnormal distal femoral metaphysis morphology": "HP:0030299", + "Abnormality of wide portion of outermost thighbone": "HP:0030299", + "Distal femoral metaphyseal abnormality": "HP:0030299", + "10 pairs of ribs": "HP:0030300", + "Abnormality of the anterior commissure": "HP:0030301", + "Agenesis of the anterior commissure": "HP:0030302", + "Hypoplastic anterior commissure": "HP:0030303", + "Abnormal number of vertebrae": "HP:0030304", + "Decreased number of vertebrae": "HP:0030305", + "11 thoracic vertebrae": "HP:0030306", + "Flared lower limb metaphysis": "HP:0030307", + "Flared metaphysis of lower limb bone": "HP:0030307", + "Flared distal tibial metaphysis": "HP:0030308", + "Flared outermost metaphysis of shankbone": "HP:0030308", + "Flared outermost metaphysis of shinbone": "HP:0030308", + "Flared distal fibular metaphysis": "HP:0030309", + "Flared outermost wide portion of of calf bone": "HP:0030309", + "Upper extremity joint dislocation": "HP:0030310", + "Dislocated arm joints": "HP:0030310", + "Lower extremity joint dislocation": "HP:0030311", + "Dislocated leg joints": "HP:0030311", + "Obliteration of the calvarial diploe": "HP:0030312", + "Obliteration of cranial cancellous bone": "HP:0030312", + "Abnormal periosteum morphology": "HP:0030313", + "Periostosis": "HP:0030314", + "Angular cheilitis": "HP:0030318", + "Angular cheilosis": "HP:0030318", + "Angular stomatitis": "HP:0030318", + "Commissural cheilitis": "HP:0030318", + "Inflammation of corners of the mouth": "HP:0030318", + "Inflammation of oral commisures": "HP:0030318", + "Red and sore corners of the mouth": "HP:0030318", + "Weakness of facial musculature": "HP:0030319", + "Decreased facial muscle strength": "HP:0030319", + "Decreased strength of facial muscles": "HP:0030319", + "Face weakness": "HP:0030319", + "Facial muscle weakness": "HP:0030319", + "Facial weakness": "HP:0030319", + "Myasthenia of facial muscles": "HP:0030319", + "Reduced facial muscle strength": "HP:0030319", + "Weakness of face": "HP:0030319", + "Increased intervertebral space": "HP:0030320", + "Abnormal vertebral artery morphology": "HP:0030321", + "Abnormality of the vertebral artery": "HP:0030321", + "Vertebral artery hypoplasia": "HP:0030322", + "Unilateral vertebral artery hypoplasia": "HP:0030323", + "Bilateral vertebral artery hypoplasia": "HP:0030324", + "Cervicomedullary schisis": "HP:0030325", + "Abnormal macrophage count": "HP:0030326", + "Abnormal osteoclast count": "HP:0030327", + "Decreased osteoclast count": "HP:0030328", + "Retinal thinning": "HP:0030329", + "Multinucleated giant chondrocytes in epiphyseal cartilage": "HP:0030330", + "Impaired stimulus-induced skin wrinkling": "HP:0030331", + "obsolete Abnormal T cell morphology": "HP:0030332", + "Abnormal alpha-beta T cell morphology": "HP:0030333", + "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology": "HP:0030334", + "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count": "HP:0030335", + "Absence of CD4-positive, CD25-positive regulatory T cells": "HP:0030336", + "Absence of CD4+CD25+ T regulatory cells": "HP:0030336", + "Absence of CD4+CD25+ Tregs": "HP:0030336", + "Elevated CD4-positive, CD25-positive regulatory T cell count": "HP:0030337", + "Abnormal circulating gonadotropin concentration": "HP:0030338", + "Abnormal circulating gonadotropin level": "HP:0030338", + "Decreased circulating gonadotropin concentration": "HP:0030339", + "Decreased circulating gonadotropin level": "HP:0030339", + "obsolete Increased circulating gonadotropin level": "HP:0030340", + "Decreased circulating follicle stimulating hormone concentration": "HP:0030341", + "Decreased circulating follicle stimulating hormone level": "HP:0030341", + "Decreased circulating luteinizing hormone level": "HP:0030344", + "Decreased circulating luteinising hormone level": "HP:0030344", + "Abnormal circulating luteinizing hormone concentration": "HP:0030345", + "Abnormal circulating luteinizing hormone level": "HP:0030345", + "Abnormal luteinizing hormone level": "HP:0030345", + "Increased circulating lutropin": "HP:0030345", + "Abnormal circulating follicle-stimulating hormone concentration": "HP:0030346", + "Abnormal circulating follicle-stimulating hormone level": "HP:0030346", + "Abnormal circulating androgen level": "HP:0030347", + "Increased circulating androgen concentration": "HP:0030348", + "Hyperandrogenemia": "HP:0030348", + "Increased circulating androgen level": "HP:0030348", + "Decreased circulating androgen concentration": "HP:0030349", + "Decreased circulating androgen level": "HP:0030349", + "Erythematous papule": "HP:0030350", + "Red-blue papule": "HP:0030350", + "Urticarial plaque": "HP:0030351", + "Abnormal serum insulin-like growth factor 1 level": "HP:0030352", + "Decreased serum insulin-like growth factor 1": "HP:0030353", + "obsolete Abnormal circulating interferon concentration": "HP:0030354", + "Abnormal circulating interferon-gamma concentration": "HP:0030355", + "Abnormal serum interferon-gamma level": "HP:0030355", + "Increased circulating interferon-gamma concentration": "HP:0030356", + "Increased serum interferon-gamma level": "HP:0030356", + "Small cell lung carcinoma": "HP:0030357", + "Oat cell carcinoma of lung": "HP:0030357", + "Oat cell lung cancer": "HP:0030357", + "Small cell lung cancer": "HP:0030357", + "Non-small cell lung carcinoma": "HP:0030358", + "Non-small cell lung cancer": "HP:0030358", + "Squamous cell lung carcinoma": "HP:0030359", + "Large cell lung carcinoma": "HP:0030360", + "Abnormal circulating eicosanoid concentration": "HP:0030361", + "Abnormality of icosanoid metabolism": "HP:0030361", + "Reduced muscle carnitine level": "HP:0030362", + "Primary Caesarian section": "HP:0030363", + "Secondary Caesarian section": "HP:0030364", + "Vaginal birth after Caesarean": "HP:0030365", + "Delivery by Odon device": "HP:0030366", + "Finger hyperphalangy": "HP:0030367", + "Hyperphalangy of the 2nd finger": "HP:0030368", + "Hyperphalangy of index finger": "HP:0030368", + "Induced vaginal delivery": "HP:0030369", + "Abnormal proportion of naive B cells": "HP:0030370", + "Increased proportion of naive B cells": "HP:0030371", + "Decreased proportion of naive B cells": "HP:0030372", + "Abnormal proportion of memory B cells": "HP:0030373", + "Decreased proportion of memory B cells": "HP:0030374", + "Increased proportion of memory B cells": "HP:0030375", + "Abnormal proportion of immature B cells": "HP:0030376", + "Abnormal proportion of CD19+/CD21low B cells": "HP:0030376", + "Increased proportion of immature B cells": "HP:0030377", + "Increased proportion of CD19+/CD21low B cells": "HP:0030377", + "Decreased proportion of immature B cells": "HP:0030378", + "Decreased proportion of CD19+/CD21low B cells": "HP:0030378", + "Abnormal proportion of transitional B cells": "HP:0030379", + "Abnormal proportion of CD19+CD38+IgM+ cells": "HP:0030379", + "Decreased proportion of transitional B cells": "HP:0030380", + "Decreased proportion of CD19+CD38+IgM+ cells": "HP:0030380", + "Increased proportion of transitional B cells": "HP:0030381", + "Increased proportion of CD19+CD38+IgM+ cells": "HP:0030381", + "Abnormal proportion of marginal zone B cells": "HP:0030383", + "Decreased proportion of marginal zone B cells": "HP:0030384", + "Increased proportion of marginal zone B cells": "HP:0030385", + "Abnormal proportion of class-switched memory B cells": "HP:0030386", + "Abnormal proportion of CD19+CD27+IgD- cells": "HP:0030386", + "Increased proportion of class-switched memory B cells": "HP:0030387", + "Increased proportion of CD19+CD27+IgD- cells": "HP:0030387", + "Decreased proportion of class-switched memory B cells": "HP:0030388", + "Decreased proportion of CD19+CD27+IgD- cells": "HP:0030388", + "Abnormal circulating thromboxane concentration": "HP:0030389", + "Reduced circulating leukotriene C4 concentration": "HP:0030390", + "Spoken word recognition deficit": "HP:0030391", + "Choroid plexus carcinoma": "HP:0030392", + "Endolymphatic sac tumor": "HP:0030393", + "Aggressive papillary middle ear tumor": "HP:0030393", + "Aggressive papillary middle ear tumour": "HP:0030393", + "Endolymphatic sac tumour": "HP:0030393", + "Heffner tumor": "HP:0030393", + "Heffner tumour": "HP:0030393", + "Low-grade adenocarcinoma of endolymphatic sac origin": "HP:0030393", + "Fallopian tube carcinoma": "HP:0030394", + "Abnormal platelet granule secretion": "HP:0030396", + "Abnormal platelet dense granule secretion": "HP:0030397", + "Abnormal platelet ATP dense granule secretion": "HP:0030398", + "Abnormal platelet alpha granule secretion": "HP:0030399", + "Abnormal platelet lysosome secretion": "HP:0030400", + "Abnormal platelet dense granule ATP/ADP ratio": "HP:0030401", + "Abnormal platelet aggregation": "HP:0030402", + "Spontaneous platelet aggregation": "HP:0030403", + "Glucagonoma": "HP:0030404", + "Pancreatic endocrine tumor": "HP:0030405", + "Pancreatic endocrine tumour": "HP:0030405", + "Primary peritoneal carcinoma": "HP:0030406", + "Pineocytoma": "HP:0030407", + "Pineoblastoma": "HP:0030408", + "Pinealoblastoma": "HP:0030408", + "Renal transitional cell carcinoma": "HP:0030409", + "Renal urothelial carcinoma": "HP:0030409", + "Transitional renal cell carcinoma": "HP:0030409", + "renal TCC": "HP:0030409", + "Sebaceous gland carcinoma": "HP:0030410", + "Sebaceous carcinoma": "HP:0030410", + "Jejunal adenocarcinoma": "HP:0030411", + "Ileal adenocarcinoma": "HP:0030412", + "Squamous cell carcinoma of the tongue": "HP:0030413", + "Verrucous cell carcinoma of the tongue": "HP:0030414", + "Sarcomatoid carcinoma of the tongue": "HP:0030415", + "Spindle cell carcinoma of the tongue": "HP:0030415", + "Vulvar neoplasm": "HP:0030416", + "Neoplasm of the vulva": "HP:0030416", + "Tumor of the vulva": "HP:0030416", + "Tumour of the vulva": "HP:0030416", + "Squamous cell carcinoma of the vulva": "HP:0030417", + "Vulval squamous cell carcinoma": "HP:0030417", + "Vulvar melanoma": "HP:0030418", + "Bartholin gland carcinoma": "HP:0030419", + "Vulvar adenocarcinoma": "HP:0030420", + "Epididymal neoplasm": "HP:0030421", + "obsolete Papillary cystadenoma of the epididymis": "HP:0030422", + "Splenic cyst": "HP:0030423", + "Cyst on spleen": "HP:0030423", + "Epididymal cyst": "HP:0030424", + "Epididymal cysts": "HP:0030424", + "Calcified ovarian cyst": "HP:0030425", + "Ossifying fibroma": "HP:0030426", + "Ossifying fibroma of the jaw": "HP:0030427", + "Cutaneous myxoma": "HP:0030428", + "Juvenile nasopharyngeal angiofibroma": "HP:0030429", + "Neuroma": "HP:0030430", + "Nerve tumor": "HP:0030430", + "Nerve tumour": "HP:0030430", + "Pinched nerve": "HP:0030430", + "Osteochondroma": "HP:0030431", + "Osteocartilaginous exostoses": "HP:0030431", + "Osteochondromas": "HP:0030431", + "Chondroblastoma": "HP:0030432", + "Osteoid osteoma": "HP:0030433", + "Pilomatrixoma": "HP:0030434", + "Fibrofolliculoma": "HP:0030436", + "Fibrofolliculomas": "HP:0030436", + "Anal canal neoplasm": "HP:0030437", + "Anal canal tumor": "HP:0030437", + "Anal canal tumour": "HP:0030437", + "Anal canal squamous cell carcinoma": "HP:0030438", + "Anal canal adenocarcinoma": "HP:0030439", + "Anal margin neoplasm": "HP:0030440", + "Anal margin Paget's disease": "HP:0030441", + "Anal margin squamous cell carcinoma": "HP:0030442", + "Anal margin basal cell carcinoma": "HP:0030443", + "Anal margin melanoma": "HP:0030444", + "Pulmonary carcinoid tumor": "HP:0030445", + "Lung carcinoid tumor": "HP:0030445", + "Lung carcinoid tumour": "HP:0030445", + "Pulmonary carcinoid tumour": "HP:0030445", + "Atypical pulmonary carcinoid tumor": "HP:0030446", + "Atypical pulmonary carcinoid tumour": "HP:0030446", + "Merkel cell skin cancer": "HP:0030447", + "Anaplastic carcinoma of the skin": "HP:0030447", + "Cutaneous APUDoma": "HP:0030447", + "Merkel cell cancer of the skin": "HP:0030447", + "Neuroendocrine carcinoma of the skin": "HP:0030447", + "Neuroendocrine tumor of the skin": "HP:0030447", + "Neuroendocrine tumour of the skin": "HP:0030447", + "Primary small cell carcinoma of the skin": "HP:0030447", + "Primary undifferentiated carcinoma of the skin": "HP:0030447", + "Soft tissue sarcoma": "HP:0030448", + "Soft tissue sarcomas": "HP:0030448", + "Therapeutic abortion": "HP:0030449", + "Neoplasm of the autonomic nervous system": "HP:0030450", + "Mesenteric cyst": "HP:0030451", + "Chylolymphatic mesenteric cyst": "HP:0030452", + "Abnormal visual electrophysiology": "HP:0030453", + "Abnormal electrooculogram": "HP:0030454", + "Abnormal EOG": "HP:0030454", + "Abnormality of pattern visual evoked potentials": "HP:0030455", + "Abnormality of pattern onset/offset visual evoked potentials": "HP:0030456", + "Abnormality of pattern onset/offset VEP": "HP:0030456", + "Abnormal amplitude of pattern onset/offset visual evoked potentials": "HP:0030457", + "Abnormal amplitude of pattern onset/offset VEP": "HP:0030457", + "Abnormal timing of pattern onset/offset visual evoked potentials": "HP:0030458", + "Abnormal timing of pattern reversal visual evoked potentials": "HP:0030460", + "Abnormal timing of flash visual evoked potentials": "HP:0030461", + "Abnormal amplitude of flash visual evoked potentials": "HP:0030462", + "Asymmetrical distribution of flash visual evoked potentials": "HP:0030463", + "Crossed asymmetry of flash visual evoked potentials": "HP:0030463", + "Asymmetrical distribution of pattern reversal visual evoked potentials": "HP:0030464", + "Crossed asymmetry of pattern reversal visual evoked potentials": "HP:0030464", + "Undetectable light-adapted electroretinogram": "HP:0030465", + "Absent photopic (cone) responses on ERG": "HP:0030465", + "non-detectable photopic ERG": "HP:0030465", + "Abnormal full-field electroretinogram": "HP:0030466", + "Abnormal pattern electroretinogram": "HP:0030467", + "Abnormal multifocal electroretinogram": "HP:0030468", + "Abnormal dark-adapted electroretinogram": "HP:0030469", + "Abnormal dark-adapted bright flash electroretinogram": "HP:0030470", + "Abnormal dark-adapted dim flash electroretinogram": "HP:0030471", + "Abnormal light-adapted single flash electroretinogram": "HP:0030472", + "Abnormal light-adapted flicker electroretinogram": "HP:0030473", + "Abnormal light adapted flicker electroretinogram": "HP:0030473", + "Abnormal light-adapted 30Hz flicker ERG": "HP:0030473", + "Abnormal light-adapted 30Hz flicker electroretinogram": "HP:0030473", + "Abnormal light-adapted flicker ERG": "HP:0030473", + "Undetectable dark-adapted electroretinogram": "HP:0030474", + "Abnormal timing of dark-adapted dim flash electroretinogram": "HP:0030475", + "Abnormal amplitude of dark-adapted dim flash electroretinogram": "HP:0030476", + "Abnormal timing of dark-adapted bright flash electroretinogram": "HP:0030477", + "Abnormal amplitude of dark-adapted bright flash electroretinogram": "HP:0030478", + "Abnormal amplitude of light-adapted flicker electroretinogram": "HP:0030479", + "Abnormal timing of light-adapted flicker electroretinogram": "HP:0030480", + "Abnormal amplitude of light-adapted single flash electroretinogram": "HP:0030481", + "Abnormal timing of light-adapted single flash electroretinogram": "HP:0030482", + "Reduced amplitude of dark-adapted bright flash electroretinogram a-wave": "HP:0030483", + "Supernormal dark-adapted bright flash electroretinogram b-wave": "HP:0030484", + "Abnormal amplitude of pattern electroretinogram": "HP:0030485", + "Abnormal timing of pattern electroretinogram": "HP:0030486", + "Abnormal P50/N95 ratio of pattern electroretinogram": "HP:0030487", + "Abnormal central response of multifocal electroretinogram": "HP:0030488", + "Abnormal paracentral response of multifocal electroretinogram": "HP:0030489", + "Exudative vitreoretinopathy": "HP:0030490", + "Choriocapillaris atrophy": "HP:0030491", + "Abnormality of foveal pigmentation": "HP:0030493", + "Macular microaneurysm/hemorrhage": "HP:0030494", + "Abnormality morphology of the macular vasculature": "HP:0030495", + "Abnormality of macular vasculature": "HP:0030495", + "Macular exudate": "HP:0030496", + "Macular exudates": "HP:0030496", + "Macular exudation": "HP:0030496", + "Macular cotton wool spot": "HP:0030497", + "Macular thickening": "HP:0030498", + "Macular drusen": "HP:0030499", + "Lipid accumulation in macula": "HP:0030499", + "Yellow/white lesions of the macula": "HP:0030500", + "Macular crystals": "HP:0030501", + "Retinoschisis": "HP:0030502", + "Macular telangiectasia": "HP:0030503", + "Juxtafoveal telangiectasia": "HP:0030503", + "Parafoveal telangiectasia": "HP:0030503", + "Grouped congenital hypertrophy of retinal pigment epithelium": "HP:0030504", + "Bear track congenital hypertrophy of retinal pigment epithelium": "HP:0030504", + "Nummular pigmentation of the fundus": "HP:0030505", + "Nummular pigmentation of the retina": "HP:0030505", + "Yellow/white lesions of the retina": "HP:0030506", + "Retinal crystals": "HP:0030507", + "obsolete Retinal cavernous hemangioma": "HP:0030508", + "Retinal racemose hemangioma": "HP:0030509", + "Retinal racemose haemangioma": "HP:0030509", + "Combined hamartoma of the retinal pigment epithelium and retina": "HP:0030510", + "Bradyopsia": "HP:0030511", + "Difficulty seeing moving objects": "HP:0030511", + "Difficulty adjusting to changes in luminance": "HP:0030512", + "Difficulty adjusting from light to dark": "HP:0030513", + "Difficulty adjusting from dark to light": "HP:0030514", + "Moderately reduced visual acuity": "HP:0030515", + "Moderate reduction in visual acuity": "HP:0030515", + "Moderate vision loss": "HP:0030515", + "Moderate visual impairment": "HP:0030515", + "Moderate visual loss": "HP:0030515", + "Homonymous hemianopia": "HP:0030516", + "Homonymous hemianopsia": "HP:0030516", + "Heteronymous hemianopia": "HP:0030517", + "Heteronymous hemianopsia": "HP:0030517", + "Congruous homonymous hemianopia": "HP:0030518", + "Congruous hemianopsia": "HP:0030518", + "Congruous heteronymous hemianopia": "HP:0030519", + "Binasal hemianopia": "HP:0030520", + "Bitemporal hemianopia": "HP:0030521", + "Mild constriction of peripheral visual field": "HP:0030522", + "Mild peripheral visual field loss": "HP:0030522", + "obsolete Peripheral visual field constriction with 40-50 degrees central field preserved": "HP:0030523", + "obsolete Peripheral visual field constriction with 30-39 degrees central field preserved": "HP:0030524", + "Moderate constriction of peripheral visual field": "HP:0030525", + "Moderate peripheral visual field loss": "HP:0030525", + "Severe constriction of peripheral visual field": "HP:0030526", + "Severe peripheral visual field loss": "HP:0030526", + "Very severe constriction of peripheral visual field": "HP:0030527", + "Very severe peripheral visual field loss": "HP:0030527", + "Paracentral scotoma": "HP:0030528", + "Ring scotoma": "HP:0030529", + "Annular scotoma": "HP:0030529", + "Arcuate scotoma": "HP:0030530", + "Arc-shaped blind spot": "HP:0030530", + "Altitudinal visual field defect": "HP:0030531", + "Visual acuity test abnormality": "HP:0030532", + "Abnormal unaided visual acuity test": "HP:0030533", + "Abnormal best corrected visual acuity test": "HP:0030534", + "Abnormal pinhole visual acuity test": "HP:0030535", + "Unaided visual acuity 0.1 LogMAR": "HP:0030536", + "Unaided visual acuity 0.2 LogMAR": "HP:0030537", + "Unaided visual acuity 0.3 LogMAR": "HP:0030538", + "Unaided visual acuity 0.4 LogMAR": "HP:0030539", + "Unaided visual acuity 0.5 LogMAR": "HP:0030540", + "Unaided visual acuity 0.6 LogMAR": "HP:0030541", + "Unaided visual acuity 0.7 LogMAR": "HP:0030542", + "Unaided visual acuity 0.8 LogMAR": "HP:0030543", + "Unaided visual acuity 0.9 LogMAR": "HP:0030544", + "Unaided visual acuity 1.0 LogMAR": "HP:0030545", + "Unaided visual acuity 1.1 LogMAR": "HP:0030546", + "Unaided visual acuity 1.2 LogMAR": "HP:0030547", + "Unaided visual acuity 1.3 LogMAR": "HP:0030548", + "Unaided visual acuity 2.0 LogMAR": "HP:0030549", + "Unaided visual acuity 3.0 LogMAR": "HP:0030550", + "Visual acuity light perception with projection": "HP:0030551", + "Visual acuity light perception without projection": "HP:0030552", + "Visual acuity no light perception": "HP:0030553", + "Best corrected visual acuity 0.1 LogMAR": "HP:0030554", + "Best corrected visual acuity 0.2 LogMAR": "HP:0030555", + "Best corrected visual acuity 0.3 LogMAR": "HP:0030556", + "Best corrected visual acuity 0.4 LogMAR": "HP:0030557", + "Best corrected visual acuity 0.5 LogMAR": "HP:0030558", + "Best corrected visual acuity 0.7 LogMAR": "HP:0030559", + "Best corrected visual acuity 0.6 LogMAR": "HP:0030560", + "Best corrected visual acuity 0.8 LogMAR": "HP:0030561", + "Best corrected visual acuity 0.9 LogMAR": "HP:0030562", + "Best corrected visual acuity 1.0 LogMAR": "HP:0030563", + "Best corrected visual acuity 1.1 LogMAR": "HP:0030564", + "Best corrected visual acuity 1.2 LogMAR": "HP:0030565", + "Best corrected visual acuity 1.3 LogMAR": "HP:0030566", + "Best corrected visual acuity 2.0 LogMAR": "HP:0030567", + "Best corrected visual acuity 3.0 LogMAR": "HP:0030568", + "Pinhole visual acuity 0.1 LogMAR": "HP:0030569", + "Pinhole visual acuity 0.2 LogMAR": "HP:0030570", + "Pinhole visual acuity 0.3 LogMAR": "HP:0030571", + "Pinhole visual acuity 0.4 LogMAR": "HP:0030572", + "Pinhole visual acuity 0.5 LogMAR": "HP:0030573", + "Pinhole visual acuity 0.6 LogMAR": "HP:0030574", + "Pinhole visual acuity 0.7 LogMAR": "HP:0030575", + "Pinhole visual acuity 0.8 LogMAR": "HP:0030576", + "Pinhole visual acuity 0.9 LogMAR": "HP:0030577", + "Pinhole visual acuity 1.0 LogMAR": "HP:0030578", + "Pinhole visual acuity 1.1 LogMAR": "HP:0030579", + "Pinhole visual acuity 1.2 LogMAR": "HP:0030580", + "Pinhole visual acuity 1.3 LogMAR": "HP:0030581", + "Pinhole visual acuity 2.0 LogMAR": "HP:0030582", + "Pinhole visual acuity 3.0 LogMAR": "HP:0030583", + "Color vision test abnormality": "HP:0030584", + "Colour vision test abnormality": "HP:0030584", + "Red desaturation": "HP:0030585", + "Abnormal Ishihara plate test": "HP:0030586", + "Abnormal Hardy-Rand-Rittler plate test": "HP:0030587", + "Abnormal visual field test": "HP:0030588", + "Abnormal confrontational visual field test": "HP:0030589", + "Abnormal Amsler grid test": "HP:0030590", + "Abnormal kinetic perimetry test": "HP:0030591", + "Abnormal static perimetry test": "HP:0030592", + "Abnormal manual kinetic perimetry test": "HP:0030593", + "Abnormal automated kinetic perimetry test": "HP:0030594", + "Abnormal static automated perimetry test": "HP:0030595", + "Abnormal Humphrey SITA 30-2 perimetry test": "HP:0030596", + "Abnormal Humphrey SITA 24-2 perimetry test": "HP:0030597", + "Abnormal Humphrey SITA 10-2 perimetry test": "HP:0030598", + "Abnormal Esterman grid perimetry test": "HP:0030599", + "Abnormal posterior segment imaging": "HP:0030601", + "Abnormal fundus autofluorescence imaging": "HP:0030602", + "Abnormal optical coherence tomography": "HP:0030603", + "Abnormal fundus fluorescein angiography": "HP:0030604", + "Abnormal indocyanine green angiography": "HP:0030605", + "Abnormal OCT-measured macular thickness": "HP:0030606", + "Reduced OCT-measured macular thickness": "HP:0030607", + "Increased OCT-measured macular thickness": "HP:0030608", + "Photoreceptor layer loss on macular OCT": "HP:0030609", + "Photoreceptor outer segment loss on macular OCT": "HP:0030610", + "Retinal pigment epithelial loss on macular OCT": "HP:0030611", + "Abnormal retinal morphology on macular OCT": "HP:0030612", + "Abnormal foveal morphology on macular OCT": "HP:0030613", + "Foveal photoreceptor layer loss on macular OCT": "HP:0030614", + "Foveal photoreceptor outer segment loss on macular OCT": "HP:0030615", + "Foveal retinal pigment epithelial loss on macular OCT": "HP:0030616", + "Abnormal OCT-measured foveal thickness": "HP:0030617", + "Increased OCT-measured foveal thickness": "HP:0030618", + "Reduced OCT-measured foveal thickness": "HP:0030619", + "Inner retinal layer loss on macular OCT": "HP:0030620", + "Foveal inner retinal layer loss on macular OCT": "HP:0030621", + "Abnormal foveal pit on macular OCT": "HP:0030622", + "Intraretinal hyporeflective spaces on macular OCT": "HP:0030623", + "Subretinal hyporeflective spaces on macular OCT": "HP:0030624", + "Hyporeflective spaces on macular OCT": "HP:0030625", + "Foveal intraretinal hyporeflective spaces on macular OCT": "HP:0030626", + "Foveal hyporeflective spaces on macular OCT": "HP:0030627", + "Foveal subretinal hyporeflective spaces on macular OCT": "HP:0030628", + "Perifoveal ring of hyperautofluorescence": "HP:0030629", + "Irregular central macular autofluorescence": "HP:0030630", + "Hyperautofluorescent macular lesion": "HP:0030631", + "Hypoautofluorescent macular lesion": "HP:0030632", + "Hypo-autofluorescent macular lesion": "HP:0030632", + "Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence": "HP:0030633", + "Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence": "HP:0030634", + "Retinal dystrophy with early macular involvement": "HP:0030635", + "Occult macular dystrophy": "HP:0030636", + "Congenital stationary cone dysfunction": "HP:0030637", + "Cone dysfunction": "HP:0030637", + "Cone dysfunction syndrome": "HP:0030637", + "Congenital stationary night blindness with normal fundus": "HP:0030638", + "Congenital stationary night blindness with abnormal fundus": "HP:0030639", + "Complete congenital stationary night blindness": "HP:0030640", + "Incomplete congenital stationary night blindness": "HP:0030641", + "Fundus albipunctatus": "HP:0030642", + "Vitelliform-like retinal lesions": "HP:0030643", + "Blind-spot enlargement": "HP:0030644", + "Blind spot enlargement": "HP:0030644", + "Central": "HP:0030645", + "Peripheral": "HP:0030646", + "Paracentral": "HP:0030647", + "Midperipheral": "HP:0030648", + "Mid-peripheral": "HP:0030648", + "Pericentral": "HP:0030649", + "Focal": "HP:0030650", + "Multifocal": "HP:0030651", + "Vitreous haze": "HP:0030652", + "Umbilical cord cyst": "HP:0030654", + "Umbilical cord knot": "HP:0030655", + "Umbilical vein varix": "HP:0030656", + "Umbilical cord hematoma": "HP:0030657", + "Umbilical cord haematoma": "HP:0030657", + "Marginal umbilical cord insertion": "HP:0030658", + "Battledore placenta": "HP:0030658", + "Marginal cord insertion": "HP:0030658", + "Velamentous cord insertion": "HP:0030659", + "Furcate cord insertion": "HP:0030660", + "Vitreous snowballs": "HP:0030661", + "Vitreous inflammatory cells": "HP:0030662", + "Optically empty vitreous": "HP:0030663", + "Beevor's sign": "HP:0030664", + "Rubral tremor": "HP:0030665", + "Holmes' tremor": "HP:0030665", + "Retinal neovascularization": "HP:0030666", + "Retinal neovascularisation": "HP:0030666", + "Peripheral retinal neovascularization": "HP:0030667", + "Periorbital dermoid cyst": "HP:0030668", + "Abnormal ocular adnexa morphology": "HP:0030669", + "Hamartoma of the orbital region": "HP:0030670", + "Abnormal common tendinous ring morphology": "HP:0030671", + "Abnormality of the common tendinous ring": "HP:0030671", + "Asteroid hyalosis": "HP:0030672", + "Erosive vitreoretinopathy": "HP:0030673", + "Antenatal onset": "HP:0030674", + "Intrauterine onset": "HP:0030674", + "Onset in utero": "HP:0030674", + "Prenatal onset": "HP:0030674", + "Contracture of proximal interphalangeal joints of 2nd-5th fingers": "HP:0030675", + "Satyr ear": "HP:0030676", + "Devil ear": "HP:0030676", + "Mozart ear": "HP:0030677", + "Ash-leaf spot": "HP:0030679", + "Abnormal cardiovascular system morphology": "HP:0030680", + "Abnormality of cardiovascular system morphology": "HP:0030680", + "Cardiovascular malformations": "HP:0030680", + "Abnormal morphology of myocardial trabeculae": "HP:0030681", + "Left ventricular noncompaction": "HP:0030682", + "Vaginitis": "HP:0030683", + "Vulvovaginitis": "HP:0030683", + "Abnormal adiponectin level": "HP:0030684", + "Decreased adiponectin level": "HP:0030685", + "Increased adiponectin level": "HP:0030686", + "Abnormal glucagon level": "HP:0030687", + "Increased glucagon level": "HP:0030688", + "Decreased glucagon level": "HP:0030689", + "Gingival cleft": "HP:0030690", + "Divergence nystagmus": "HP:0030691", + "Brain neoplasm": "HP:0030692", + "Brain tumor": "HP:0030692", + "Brain tumour": "HP:0030692", + "Supratentorial neoplasm": "HP:0030693", + "Pineal parenchymal tumor": "HP:0030693", + "Pineal parenchymal tumour": "HP:0030693", + "Pineal parenchymal cell neoplasm": "HP:0030694", + "Ranula": "HP:0030706", + "Sublingual cyst": "HP:0030706", + "Sublingual ptyalocele": "HP:0030706", + "Unilateral lung agenesis": "HP:0030707", + "Unilateral pulmonary agenesis": "HP:0030707", + "Myeloschisis": "HP:0030708", + "Myelocystocele": "HP:0030709", + "Lipomeningocele": "HP:0030710", + "Hydrocolpos": "HP:0030711", + "Uterine synechiae": "HP:0030712", + "Asherman syndrome": "HP:0030712", + "Vein of Galen aneurysmal malformation": "HP:0030713", + "Median prosencephalic arteriovenous fistula": "HP:0030713", + "Vein of Galen aneurysm": "HP:0030713", + "Vein of Galen malformation": "HP:0030713", + "Subchorionic thrombohematoma": "HP:0030714", + "Breus' mole": "HP:0030714", + "Bronchial atresia": "HP:0030715", + "Congenital bronchial atresia": "HP:0030715", + "Acrania": "HP:0030716", + "Meconium peritonitis": "HP:0030717", + "Right atrial enlargement": "HP:0030718", + "Dilated right atrium": "HP:0030718", + "Enlarged heart right atrium": "HP:0030718", + "Right atrial dilatation": "HP:0030718", + "Unguarded tricuspid valve": "HP:0030719", + "Rudimentary tricuspid valve leaflets": "HP:0030719", + "Unguarded tricuspid valve orifice": "HP:0030719", + "Subchorionic septal cyst": "HP:0030720", + "Tetraphocomelia": "HP:0030721", + "Ectopic liver": "HP:0030722", + "Congenital megalourethra": "HP:0030723", + "Central nervous system cyst": "HP:0030724", + "CNS cyst": "HP:0030724", + "Cyst of the central nervous system": "HP:0030724", + "Neurenteric cyst": "HP:0030725", + "Spinal neurenteric cyst": "HP:0030726", + "Intracranial neurenteric cyst": "HP:0030727", + "Meromelia": "HP:0030728", + "Frontoethmoidal meningocele": "HP:0030729", + "Frontoethmoid meningocele": "HP:0030729", + "Parietal meningocele": "HP:0030730", + "Carcinoma": "HP:0030731", + "Dysplastic tricuspid valve": "HP:0030732", + "Tricuspid valve dysplasia": "HP:0030732", + "Vesicoallantoic abdominal wall defect": "HP:0030733", + "Ureterovesical junction obstruction": "HP:0030735", + "Sacrococcygeal teratoma": "HP:0030736", + "Altman type I sacrococcygeal teratoma": "HP:0030737", + "Altman type II sacrococcygeal teratoma": "HP:0030738", + "Altman type III sacrococcygeal teratoma": "HP:0030739", + "Anomalous muscle bundle of the right ventricle": "HP:0030740", + "Right ventricular anomalous muscle bundle": "HP:0030740", + "Mediastinal teratoma": "HP:0030741", + "Teratoma of the mediastinum": "HP:0030741", + "Glial remnants posterior to lens": "HP:0030742", + "Mittendorf dot": "HP:0030742", + "Glial remnants anterior to the optic disc": "HP:0030743", + "Bergmeister papilla": "HP:0030743", + "Hyaloid vascular remnant and retrolental mass": "HP:0030744", + "Dilatation of the ductus arteriosus": "HP:0030745", + "Aneurysm of the ductus arteriosus": "HP:0030745", + "Congenital ductus arteriosus aneurysm": "HP:0030745", + "Ductus arteriosus aneurysm": "HP:0030745", + "Intraventricular hemorrhage": "HP:0030746", + "Intraventricular haemorrhage": "HP:0030746", + "Preterm intraventricular hemorrhage": "HP:0030747", + "Preterm intraventricular haemorrhage": "HP:0030747", + "Grade I preterm intraventricular hemorrhage": "HP:0030748", + "Germinal matrix haemorrhage": "HP:0030748", + "Germinal matrix hemorrhage": "HP:0030748", + "Grade I preterm intraventricular haemorrhage": "HP:0030748", + "Grade II preterm intraventricular hemorrhage": "HP:0030749", + "Grade II preterm intraventricular haemorrhage": "HP:0030749", + "Grade III preterm intraventricular hemorrhage": "HP:0030750", + "Grade III preterm intraventricular haemorrhage": "HP:0030750", + "Grade IV preterm intraventricular hemorrhage": "HP:0030751", + "Grade IV preterm intraventricular haemorrhage": "HP:0030751", + "Dacryocystocele": "HP:0030752", + "Timo cyst": "HP:0030752", + "Intrauterine fetal demise of one twin after midgestation": "HP:0030753", + "Intrauterine foetal demise of one twin after midgestation": "HP:0030753", + "Single-twin demise": "HP:0030753", + "Allantoic cyst": "HP:0030754", + "Craniofacial teratoma": "HP:0030755", + "Erythrodontia": "HP:0030756", + "Red teeth": "HP:0030756", + "Tooth abscess": "HP:0030757", + "Dental abscess": "HP:0030757", + "Dentoalveolar abscess": "HP:0030757", + "Periapical tooth abscess": "HP:0030758", + "Adipocyte hypertrophy": "HP:0030759", + "Fat cell hypertrophy": "HP:0030759", + "Renal fibrosis": "HP:0030760", + "Kidney fibrosis": "HP:0030760", + "obsolete Renal glomerular fibrosis": "HP:0030761", + "Mesangiolysis": "HP:0030762", + "Amniotic Sheet": "HP:0030763", + "Amniotic shelf": "HP:0030763", + "Ochronosis": "HP:0030764", + "Ochronotic arthritis": "HP:0030764", + "Sleep terror": "HP:0030765", + "Night terror": "HP:0030765", + "Pavor nocturnus": "HP:0030765", + "Sleep terrors": "HP:0030765", + "Ear pain": "HP:0030766", + "Otalgia": "HP:0030766", + "Pain in the ear": "HP:0030766", + "Epignathus": "HP:0030767", + "Palatine teratoma": "HP:0030767", + "Exencephaly": "HP:0030769", + "Craniorachischisis": "HP:0030770", + "Mallet finger": "HP:0030771", + "Proximal femoral focal deficiency": "HP:0030772", + "Internuclear ophthalmoplegia": "HP:0030773", + "Mitochondrial swelling": "HP:0030774", + "Modic type vertebral endplate changes": "HP:0030775", + "Modic type I vertebral endplate changes": "HP:0030776", + "Modic type 1 vertebral endplate changes": "HP:0030776", + "Modic type II vertebral endplate changes": "HP:0030777", + "Modic type 2 vertebral endplate changes": "HP:0030777", + "Modic type III vertebral endplate changes": "HP:0030778", + "Modic type 3 vertebral endplate changes": "HP:0030778", + "Ethmocephaly": "HP:0030779", + "Abnormality of the protein C anticoagulant pathway": "HP:0030780", + "Increased circulating free fatty acid level": "HP:0030781", + "obsolete Abnormal circulating interleukin concentration": "HP:0030782", + "Increased circulating interleukin 6 concentration": "HP:0030783", + "Increased serum IL-6": "HP:0030783", + "Increased serum interleukin-6": "HP:0030783", + "Anomic aphasia": "HP:0030784", + "Amnesic aphasia": "HP:0030784", + "Amnestic aphasia": "HP:0030784", + "Anomia": "HP:0030784", + "Nominal aphasia": "HP:0030784", + "Word-finding difficulty": "HP:0030784", + "Mediastinal cystic lymphangioma": "HP:0030785", + "Intrathoracic cystic hygroma": "HP:0030785", + "Thoracic cystic lymphangioma": "HP:0030785", + "Photopsia": "HP:0030786", + "Cerumen abnormality": "HP:0030787", + "Impacted cerumen": "HP:0030788", + "Excessive cerumen": "HP:0030789", + "Abnormal cerumen color": "HP:0030790", + "Abnormal cerumen pigmentation": "HP:0030790", + "Abnormal jaw morphology": "HP:0030791", + "Jaw neoplasm": "HP:0030792", + "Jaw swelling": "HP:0030793", + "Abnormal circulating C-peptide concentration": "HP:0030794", + "Abnormal C peptide level": "HP:0030794", + "Abnormal C-peptide level": "HP:0030794", + "Reduced C-peptide level": "HP:0030795", + "Reduced C peptide level": "HP:0030795", + "Increased C-peptide level": "HP:0030796", + "Increased C peptide level": "HP:0030796", + "Reduced volume of central subdivision of bed nucleus of stria terminalis": "HP:0030797", + "Abnormality of the bed nucleus of stria terminalis": "HP:0030798", + "Scaphocephaly": "HP:0030799", + "Abnormal visual accommodation": "HP:0030800", + "Reduced visual accommodation": "HP:0030801", + "Lower eyelid retraction": "HP:0030802", + "Platonychia": "HP:0030803", + "Trachyonychia": "HP:0030804", + "Absent lunula": "HP:0030805", + "Absent lunulae": "HP:0030805", + "Lunula absent": "HP:0030805", + "Lunulae absent": "HP:0030805", + "Fast-growing nails": "HP:0030806", + "Abnormal nail growth": "HP:0030807", + "Ragged cuticle": "HP:0030808", + "Abnormal tongue morphology": "HP:0030809", + "Abnormal tongue physiology": "HP:0030810", + "Tongue pain": "HP:0030811", + "Painful tongue": "HP:0030811", + "Enlarged tonsils": "HP:0030812", + "Enlargement of tonsils": "HP:0030812", + "Tonsillar hypertrophy": "HP:0030812", + "tonsils large/hypertrophy": "HP:0030812", + "Absent tonsils": "HP:0030813", + "Hypoplastic tonsils": "HP:0030813", + "Tonsillar hypoplasia": "HP:0030813", + "Orange discolored tonsils": "HP:0030814", + "Orange colored tonsils": "HP:0030814", + "Orange coloured tonsils": "HP:0030814", + "Orange discoloured tonsils": "HP:0030814", + "Orange tonsils": "HP:0030814", + "Tonsils with orange deposits": "HP:0030814", + "Lipoma of the tongue": "HP:0030815", + "Tongue lipoma": "HP:0030815", + "Gingival recession": "HP:0030816", + "Gum recession": "HP:0030816", + "Receding gums": "HP:0030816", + "Beaked nails": "HP:0030817", + "Central nail canal": "HP:0030818", + "Median nail dystrophy": "HP:0030818", + "Ski jump nail": "HP:0030819", + "Upslanting nail": "HP:0030819", + "Upward angulation of nail": "HP:0030819", + "Hooded eyelid": "HP:0030820", + "Hooded lower eyelid": "HP:0030821", + "Hooded upper eyelid": "HP:0030822", + "Scleral thickening": "HP:0030823", + "Thick sclera": "HP:0030823", + "Mizuo phenomenon": "HP:0030824", + "Mizuo-Nakamura phenomenon": "HP:0030824", + "Absent foveal reflex": "HP:0030825", + "Foveal reflex absent": "HP:0030825", + "Loss of foveal reflex": "HP:0030825", + "Eyelid fasciculation": "HP:0030826", + "Eyelid fluttering": "HP:0030826", + "Fasciculation of the eyelid": "HP:0030826", + "Muscle twitches in eye lid": "HP:0030826", + "Muscle twitches in eyelid": "HP:0030826", + "Twitching around eyes": "HP:0030826", + "Wheezing": "HP:0030828", + "Abnormal breath sound": "HP:0030829", + "Abnormal lung auscultation finding": "HP:0030829", + "Crackles": "HP:0030830", + "Crepitations": "HP:0030830", + "Rales": "HP:0030830", + "Rhonchi": "HP:0030831", + "Vitreous strands": "HP:0030832", + "Neck pain": "HP:0030833", + "Shoulder pain": "HP:0030834", + "Elbow pain": "HP:0030835", + "Wrist pain": "HP:0030836", + "Finger pain": "HP:0030837", + "Hip pain": "HP:0030838", + "Knee pain": "HP:0030839", + "Pain under knee cap": "HP:0030839", + "Ankle pain": "HP:0030840", + "Toe pain": "HP:0030841", + "Choking episodes": "HP:0030842", + "Cardiac amyloidosis": "HP:0030843", + "Amyloid cardiomyopathy": "HP:0030843", + "Undetectable pattern electroretinogram": "HP:0030844", + "Heliotrope rash of eyelid": "HP:0030845", + "Abnormality of venous physiology": "HP:0030846", + "Abnormal jugular venous pressure": "HP:0030847", + "Elevated jugular venous pressure": "HP:0030848", + "Hepatojugular reflux": "HP:0030849", + "Abnormal pulse pressure": "HP:0030850", + "Low pulse pressure": "HP:0030851", + "High pulse pressure": "HP:0030852", + "Heterotaxy": "HP:0030853", + "Heterotaxia": "HP:0030853", + "Scleral staphyloma": "HP:0030854", + "Staphyloma": "HP:0030854", + "Anterior staphyloma": "HP:0030855", + "Posterior staphyloma": "HP:0030856", + "Eye movement-induced pain": "HP:0030857", + "Addictive behavior": "HP:0030858", + "Addictive behaviour": "HP:0030858", + "Anti-topoisomerase I antibody positivity": "HP:0030859", + "Anti-Scl-70 antibody positivity": "HP:0030859", + "Top1 antibody positivity": "HP:0030859", + "Topoisomerase (DNA) I antibody positivity": "HP:0030859", + "Abnormal CSF amyloid concentration": "HP:0030860", + "Abnormal CSF A[beta]42 level": "HP:0030860", + "Abnormal CSF amyloid level": "HP:0030860", + "Decreased CSF amyloid concentration": "HP:0030861", + "Decreased CSF amyloid level": "HP:0030861", + "Elevated CSF amyloid concentration": "HP:0030862", + "Elevated CSF amyloid level": "HP:0030862", + "Nasal flaring": "HP:0030863", + "Intercostal retractions": "HP:0030864", + "Chest retractions": "HP:0030864", + "Large elbow": "HP:0030865", + "Prominent elbow": "HP:0030865", + "Large knee": "HP:0030866", + "Vertical orbital dystopia": "HP:0030867", + "Eyes at different heights": "HP:0030867", + "Misaligned eyes": "HP:0030867", + "Unequal eye height": "HP:0030867", + "Monorchism": "HP:0030868", + "Monorchidism": "HP:0030868", + "Anorchism": "HP:0030869", + "Abnormality of spinal facet joint": "HP:0030870", + "Abnormality of Z-joint": "HP:0030870", + "Abnormality of apophyseal joint": "HP:0030870", + "Abnormality of zygapophyseal joint": "HP:0030870", + "Abnormality of zygapophysial joint": "HP:0030870", + "Facet joint arthrosis": "HP:0030871", + "Facet arthritis": "HP:0030871", + "Abnormal cardiac ventricular function": "HP:0030872", + "Anti-centromere antibody positivity": "HP:0030873", + "ACA positivity": "HP:0030873", + "Anticentromere antibody positivity": "HP:0030873", + "Oxygen desaturation on exertion": "HP:0030874", + "O2 desaturation on exertion": "HP:0030874", + "Abnormality of pulmonary circulation": "HP:0030875", + "Abnormal pulmonary circulation": "HP:0030875", + "Abnormality of respiratory circulation": "HP:0030875", + "Increased pulmonary capillary wedge pressure": "HP:0030876", + "Increased pulmonary arterial wedge pressure": "HP:0030876", + "Increased pulmonary artery occlusion pressure": "HP:0030876", + "Reduced FEV1/FVC ratio": "HP:0030877", + "Obstructive deficit on pulmonary function test": "HP:0030877", + "Obstructive deficit on pulmonary function testing": "HP:0030877", + "Abnormality on pulmonary function testing": "HP:0030878", + "Abnormal pulmonary function test": "HP:0030878", + "Abnormal spirometry test": "HP:0030878", + "Interlobular septal thickening": "HP:0030879", + "Interlobular lines (pulmonary CT finding)": "HP:0030879", + "Peripheral lines (pulmonary CT finding)": "HP:0030879", + "Septal lines (pulmonary CT finding)": "HP:0030879", + "Septal thickening (pulmonary CT finding)": "HP:0030879", + "Short lines (pumonary CT finding)": "HP:0030879", + "Interlobular septal thickening on pulmonary HRCT": "HP:0030879", + "Raynaud phenomenon": "HP:0030880", + "Raynaud's phenomenon": "HP:0030880", + "Raynaud disease": "HP:0030880", + "Shoulder impingement": "HP:0030881", + "Coronary artery aneurysm": "HP:0030882", + "Coronary arterial dilatation": "HP:0030882", + "Coronary artery dilatation": "HP:0030882", + "Coronary artery ectasia": "HP:0030882", + "Femoroacetabular impingement": "HP:0030883", + "Femoral acetabular impingement": "HP:0030883", + "Gastrojejunal tube feeding in infancy": "HP:0030884", + "Gastro-jejunal tube feeding in infancy": "HP:0030884", + "Recurrent parasitic infections": "HP:0030885", + "Abnormal lymphocyte apoptosis": "HP:0030886", + "Increased lymphocyte apoptosis": "HP:0030887", + "C3 nephritic factor positivity": "HP:0030888", + "Congenital shortened small intestine": "HP:0030889", + "Short bowel": "HP:0030889", + "Hyperintensity of cerebral white matter on MRI": "HP:0030890", + "White matter hyperintensity": "HP:0030890", + "Periventricular white matter hyperintensities": "HP:0030891", + "PVWMH": "HP:0030891", + "Deep cerebral white matter hyperintensities": "HP:0030892", + "DWMH": "HP:0030892", + "Abnormal response to short acting pulmonary vasodilator": "HP:0030893", + "Insufficient response to short acting pulmonary vasodilator": "HP:0030894", + "Abnormal gastrointestinal motility": "HP:0030895", + "Abnormal GI motility": "HP:0030895", + "Abnormal gastrointestinal transit time": "HP:0030896", + "Abnormal GI transit time": "HP:0030896", + "Decreased intestinal transit time": "HP:0030897", + "Pruritis on abdomen": "HP:0030898", + "Pruritis on hand": "HP:0030899", + "Pruritus on foot": "HP:0030900", + "Itchy feet": "HP:0030900", + "Itchy foot": "HP:0030900", + "Pruritis on breast": "HP:0030901", + "Palmomental reflex": "HP:0030902", + "Grasp reflex": "HP:0030903", + "Palmar grasp reflex": "HP:0030903", + "Glabellar reflex": "HP:0030904", + "Myerson's sign": "HP:0030904", + "Snout reflex": "HP:0030905", + "Suck reflex": "HP:0030906", + "Persistent nutritive suckle swallow": "HP:0030906", + "Thunderclap headache": "HP:0030907", + "Liver kidney microsome type 1 antibody positivity": "HP:0030908", + "Anti-LKM-1 positive": "HP:0030908", + "Anti-LKM1 antibody positivity": "HP:0030908", + "Anti-liver kidney microsomal type 1 antibody positivity": "HP:0030908", + "Anti-type I liver-kidney microsomal antibody positivity": "HP:0030908", + "Anti-liver cytosolic antigen type 1 antibody positivity": "HP:0030909", + "Anti-liver cytosol antibody-1 positivity": "HP:0030909", + "Bifid clitoris": "HP:0030911", + "Duplicated clitoris": "HP:0030912", + "Exaggerated rugosity of the labia majora": "HP:0030913", + "Scrotum-like labia majora": "HP:0030913", + "Abnormal peristalsis": "HP:0030914", + "Cerebellar edema": "HP:0030915", + "Edema of the cerebellum": "HP:0030915", + "Oedema of the cerebellum": "HP:0030915", + "Low APGAR score": "HP:0030917", + "Low 1-minute APGAR score": "HP:0030918", + "Low one-minute APGAR score": "HP:0030918", + "Low 5-minute APGAR score": "HP:0030919", + "Low five-minute APGAR score": "HP:0030919", + "5-minute APGAR score of 0": "HP:0030920", + "5-minute APGAR score of 1": "HP:0030921", + "5-minute APGAR score of 2": "HP:0030922", + "5-minute APGAR score of 3": "HP:0030923", + "5-minute APGAR score of 4": "HP:0030924", + "5-minute APGAR score of 5": "HP:0030925", + "5-minute APGAR score of 6": "HP:0030926", + "1-minute APGAR score of 0": "HP:0030927", + "1-minute APGAR score of 1": "HP:0030928", + "1-minute APGAR score of 2": "HP:0030929", + "1-minute APGAR score of 3": "HP:0030930", + "1-minute APGAR score of 4": "HP:0030931", + "1-minute APGAR score of 5": "HP:0030932", + "1-minute APGAR score of 6": "HP:0030933", + "Oral erythroplakia": "HP:0030934", + "Oral erythroplasia": "HP:0030934", + "Abnormal intestinal smooth muscle morphology": "HP:0030935", + "Abnormality of intestinal smooth muscle morphology": "HP:0030935", + "Abnormal layering of muscularis propria": "HP:0030936", + "Muscularis propria malformation": "HP:0030936", + "Segmental additional circular muscle coat": "HP:0030936", + "Fibrotic muscularis propria": "HP:0030937", + "Enteric intraneuronal nuclear inclusion bodies": "HP:0030938", + "Palpebral thickening": "HP:0030939", + "Eyelid thickening": "HP:0030939", + "Thick eyelids": "HP:0030939", + "Thickened but nonswollen eyelids": "HP:0030939", + "Thickened eyelid": "HP:0030939", + "Vulvodynia": "HP:0030943", + "Vulvar pain": "HP:0030943", + "Conjunctival papillae": "HP:0030946", + "Bumps under the upper eyelid": "HP:0030946", + "Tarsal papillae": "HP:0030946", + "Conjunctival follicles": "HP:0030947", + "Elevated gamma-glutamyltransferase level": "HP:0030948", + "Elevated serum GGT": "HP:0030948", + "Glomerular deposits": "HP:0030949", + "Pulmonary venous hypertension": "HP:0030950", + "Skeletal muscle fibrosis": "HP:0030951", + "Muscle biopsy: fibrosis": "HP:0030951", + "Birdshot retinochoroidopathy": "HP:0030952", + "Birdshot choroidal lesions": "HP:0030952", + "Birdshot laesions": "HP:0030952", + "Birdshot lesions": "HP:0030952", + "Conjunctival hyperemia": "HP:0030953", + "Conjunctival hyperaemia": "HP:0030953", + "Conjunctival injection": "HP:0030953", + "Conjunctival vascular congestion": "HP:0030953", + "Addictive alcohol use": "HP:0030955", + "Alcohol addiction": "HP:0030955", + "Alcoholism": "HP:0030955", + "Abnormality of cardiovascular system electrophysiology": "HP:0030956", + "Ventricular septal aneurysm": "HP:0030957", + "Ventricular septal dilatation": "HP:0030957", + "Membranous ventricular septal aneurysm": "HP:0030958", + "Interventricular septum membranous part aneurysm": "HP:0030958", + "Aneurysm of the membranous ventricular septum": "HP:0030958", + "Muscular ventricular septal aneurysm": "HP:0030959", + "Aneurysm of the muscular ventricular septum": "HP:0030959", + "obsolete Abnormal pupillary morphology": "HP:0030960", + "Microspherophakia": "HP:0030961", + "Abnormal morphology of the great vessels": "HP:0030962", + "obsolete Abnormal aortic morphology": "HP:0030963", + "Abnormal aortic physiology": "HP:0030964", + "Aortic stiffness": "HP:0030965", + "Increased aortic stiffness": "HP:0030965", + "Abnormal pulmonary artery morphology": "HP:0030966", + "Abnormal pulmonary artery physiology": "HP:0030967", + "Abnormal pulmonary vein morphology": "HP:0030968", + "Abnormal pulmonary vein physiology": "HP:0030969", + "Abnormal vena cava physiology": "HP:0030970", + "obsolete Abnormal vena cava morphology": "HP:0030971", + "Abnormal systemic blood pressure": "HP:0030972", + "Abnormal systemic BP": "HP:0030972", + "Postexertional symptom exacerbation": "HP:0030973", + "Exercise-induced malaise": "HP:0030973", + "Postexertional malaise": "HP:0030973", + "Cryptozoospermia": "HP:0030974", + "Cryptospermia": "HP:0030974", + "Pontine tegmental cap": "HP:0030975", + "Vaulted pontine tegmentum": "HP:0030975", + "Abnormal factor VIII activity": "HP:0030976", + "Increased factor VIII activity": "HP:0030977", + "Elevated factor VIII level": "HP:0030977", + "Decreased CSF/serum albumin ratio": "HP:0030978", + "Dilatation of large choroidal vessels": "HP:0030979", + "Dilated choroidal vessels": "HP:0030979", + "Reduced brain glutamine level by MRS": "HP:0030980", + "Abnormal CSF/serum albumin ratio": "HP:0030981", + "Ovarian thecoma": "HP:0030983", + "Abnormal serum bile acid concentration": "HP:0030984", + "Decreased serum bile acid concentration": "HP:0030985", + "Biliary epithelial hyperplasia": "HP:0030986", + "Suppurative cholangitis": "HP:0030987", + "Granulomatous cholangitis": "HP:0030988", + "Lymphoid cholangitis": "HP:0030989", + "Pleomorphic cholangitis": "HP:0030990", + "Sclerosing cholangitis": "HP:0030991", + "Fibrous cholangitis": "HP:0030991", + "Abnormal pancreatic duct morphology": "HP:0030992", + "Duplication of pancreatic duct": "HP:0030993", + "Duplicated pancreatic duct": "HP:0030993", + "Pancreas divisum": "HP:0030994", + "obsolete Peritoneal effusion": "HP:0030995", + "Megaduodenum": "HP:0030996", + "Atretic vas deferens": "HP:0030997", + "Atresia of the vas deferens": "HP:0030997", + "Vas deferens atresia": "HP:0030997", + "Cerebrospinal fluid rhinorrhoea": "HP:0030998", + "CSF rhinorrhoea": "HP:0030998", + "Abnormal vestibular saccule morphology": "HP:0030999", + "Abnormal saccule morphology": "HP:0030999", + "Morphological abnormality of the saccule": "HP:0030999", + "Vestibular saccular degeneration": "HP:0031000", + "Minifascicle formation": "HP:0031001", + "Neuritis": "HP:0031002", + "Polyneuritis": "HP:0031003", + "Multiple neuritis": "HP:0031003", + "Hemiareflexia": "HP:0031004", + "obsolete Hyperalgesia": "HP:0031005", + "Acroparesthesia": "HP:0031006", + "Orofacial action-specific dystonia induced by speech": "HP:0031007", + "Jaw dystonia induced by speaking": "HP:0031007", + "Lingual dystonia": "HP:0031008", + "Tongue dystonia": "HP:0031008", + "Ainhum": "HP:0031009", + "Dactylolysis spontanea": "HP:0031009", + "Hyperphalangy of the 3rd finger": "HP:0031010", + "Hyperphalangy of third finger": "HP:0031010", + "Fatty streak": "HP:0031011", + "Sudanophilic lesion": "HP:0031011", + "Thin-cap fibroatheroma": "HP:0031012", + "TCFA": "HP:0031012", + "Ankylosis": "HP:0031013", + "Arteria lusoria": "HP:0031014", + "Aberrant right subclavian artery": "HP:0031014", + "Lusorian artery": "HP:0031014", + "Intrahepatic portal vein sclerosis": "HP:0031015", + "Idiopathic non-cirrhotic portal hypertension": "HP:0031015", + "Incomplete septal cirrhosis": "HP:0031015", + "Non cirrhotic portal fibrosis": "HP:0031015", + "Obliterative portal venopathy": "HP:0031015", + "Alternating radiolucent and radiodense metaphyseal lines": "HP:0031016", + "Zebra stripe sign": "HP:0031016", + "Swiss cheese atrial septal defect": "HP:0031017", + "Eccrine syringofibroadenoma": "HP:0031018", + "Acrosyringeal adenomatosis": "HP:0031018", + "Eccrine syringofibroadenomatous hyperplasia": "HP:0031018", + "Syringofibroadenoma": "HP:0031018", + "Pyknotic bone marrow neutrophils": "HP:0031019", + "Bone marrow hypercellularity": "HP:0031020", + "Myeloid hyperplasia": "HP:0031020", + "Squamous Papilloma": "HP:0031021", + "Oropharyngeal squamous papilloma": "HP:0031022", + "Squamous papilloma of the uvula": "HP:0031022", + "Multiple mucosal neuromas": "HP:0031023", + "Cylindroma": "HP:0031024", + "Gastric leiomyosarcoma": "HP:0031025", + "Snail-like ilia": "HP:0031026", + "Snail-like pelvis": "HP:0031026", + "Snail-shaped ilia": "HP:0031026", + "Schneckenbecken dysplasia": "HP:0031026", + "Internal notch of the femoral head": "HP:0031027", + "Lactescent serum": "HP:0031028", + "Milk-like serum": "HP:0031028", + "Plasma lactescence": "HP:0031028", + "Elevated circulating carcinoembryonic antigen concentration": "HP:0031029", + "Elevated carcinoembryonic antigen level": "HP:0031029", + "Increased plasma CEA": "HP:0031029", + "Elevated carcinoma antigen 125 level": "HP:0031030", + "Increased plasma CA125": "HP:0031030", + "Abnormal retinol-binding protein level": "HP:0031031", + "Decreased retinol-binding protein level": "HP:0031032", + "Impaired urinary acidification": "HP:0031033", + "Renal acidification defect": "HP:0031033", + "Abnormal insulin like growth factor binding protein acid labile subunit level": "HP:0031034", + "Chronic infection": "HP:0031035", + "Reduced growth-hormone binding protein level": "HP:0031036", + "Decreased plasma GH-binding protein": "HP:0031036", + "Reduced insulin-like factor 3 level": "HP:0031037", + "Reduced plasma INSL3 level": "HP:0031037", + "Spermatogenesis maturation arrest": "HP:0031038", + "Meiotic maturation arrest of spermatogenesis": "HP:0031038", + "Spermatocyte maturation arrest": "HP:0031039", + "Spermatocyte arrest": "HP:0031039", + "Spermatocyte meiotic arrest": "HP:0031039", + "Spermatocytic arrest": "HP:0031039", + "Round spermatid arrest": "HP:0031040", + "Maturation arrest of spermatogenesis at spermatid stage": "HP:0031040", + "Late spermatogenesis maturation arrest": "HP:0031040", + "Obstruction of the superior vena cava": "HP:0031041", + "Superior vena cava obstruction": "HP:0031041", + "Superior vena cava syndrome": "HP:0031041", + "Strawberry tongue": "HP:0031042", + "Raspberry tongue": "HP:0031042", + "Type A4 brachydactyly": "HP:0031043", + "Type A5 brachydactyly": "HP:0031044", + "Acral blistering": "HP:0031045", + "Absent soft palate": "HP:0031046", + "Agenesis of the soft palate": "HP:0031046", + "Paraproteinemia": "HP:0031047", + "Monoclonal hypergammaglobulinemia": "HP:0031047", + "Light-chain paraproteinemia": "HP:0031048", + "Heavy-chain paraproteinemia": "HP:0031049", + "Whole-immunoglobulin paraproteinemia": "HP:0031050", + "Tarsal sclerosis": "HP:0031051", + "Elevated vascular endothelial growth factor level": "HP:0031052", + "Elevated circulating VEGF concentration": "HP:0031052", + "Coarctation in the transverse aortic arch": "HP:0031053", + "Long segment coarctation of the aorta": "HP:0031054", + "Abnormal branching pattern of left aortic arch": "HP:0031055", + "Fusiform cerebral aneurysm": "HP:0031056", + "Intracranial fusiform aneurysm": "HP:0031056", + "Skin fissure": "HP:0031057", + "Cracked skin": "HP:0031057", + "Impairment of activities of daily living": "HP:0031058", + "Impaired ability to bathe oneself": "HP:0031059", + "Impaired ability to dress oneself": "HP:0031060", + "Impaired toileting ability": "HP:0031061", + "Impaired transferring ability": "HP:0031062", + "Impaired feeding ability": "HP:0031063", + "Impaired continence": "HP:0031064", + "Abnormal ovarian morphology": "HP:0031065", + "Abnormal ovarian physiology": "HP:0031066", + "Empty ovarian follicle": "HP:0031067", + "Empty follicle syndrome": "HP:0031067", + "obsolete Increased femoral torsion": "HP:0031068", + "Abnormal femoral torsion": "HP:0031069", + "obsolete Femoral retroversion": "HP:0031070", + "Abnormal endocrine morphology": "HP:0031071", + "Abnormal endocrine physiology": "HP:0031072", + "Abnormal response to endocrine stimulation test": "HP:0031073", + "Abnormal response to ACTH stimulation test": "HP:0031074", + "Abnormal response to adrenocorticotropic-hormone stimulation test": "HP:0031074", + "Abnormal response to corticotropin stimulation test": "HP:0031074", + "Abnormal response to insulin tolerance test": "HP:0031075", + "Impaired cortisol response to insulin stimulation test": "HP:0031076", + "Abnormal response to corticotropin releasing hormone stimulation test": "HP:0031077", + "Abnormal response to CRH stimulation test": "HP:0031077", + "Impaired cortisol response to corticotropin releasing hormone stimulation test": "HP:0031078", + "Impaired growth-hormone response to insulin stimulation test": "HP:0031079", + "Abnormal response to glucagon stimulation test": "HP:0031080", + "Impaired cortisol response to glucagon stimulation test": "HP:0031081", + "Impaired growth-hormone response to glucagon stimulation test": "HP:0031082", + "Abnormal response to human chorionic gonadotrophin stimulation test": "HP:0031083", + "Abnormal response to hCG stimulation test": "HP:0031083", + "Excessive insulin response to glucagon test": "HP:0031084", + "Decreased circulating prealbumin concentration": "HP:0031085", + "Decreased prealbumin level": "HP:0031085", + "Ectopic ovary": "HP:0031086", + "Undescended ovary": "HP:0031086", + "Absent pubertal growth spurt": "HP:0031087", + "Absent adolescent growth spurt": "HP:0031087", + "Vaginal dryness": "HP:0031088", + "Palatal edema": "HP:0031089", + "Palatal oedema": "HP:0031089", + "Palate edema": "HP:0031089", + "Palate oedema": "HP:0031089", + "Finger dactylitis": "HP:0031090", + "Sausage fingers": "HP:0031090", + "Toe dactylitis": "HP:0031091", + "Sausage toes": "HP:0031091", + "Spindle-shaped finger": "HP:0031092", + "Abnormal breast morphology": "HP:0031093", + "Abnormal breast physiology": "HP:0031094", + "Abnormal humerus morphology": "HP:0031095", + "Abnormality of the humerus": "HP:0031095", + "Delayed vertebral ossification": "HP:0031096", + "Abnormal thyroid-stimulating hormone level": "HP:0031097", + "Abnormal TSH level": "HP:0031097", + "Abnormal circulating thyrotropin concentration": "HP:0031097", + "Abnormal thyrotropin level": "HP:0031097", + "Decreased thyroid-stimulating hormone level": "HP:0031098", + "Decreased plasma TSH": "HP:0031098", + "Decreased thyrotropin level": "HP:0031098", + "Abnormal circulating inhibin level": "HP:0031099", + "Decreased circulating inhibin B concentration": "HP:0031100", + "277000": "HP:0031100", + "Abnormal circulating antimullerian hormone concentration": "HP:0031101", + "Abnormal antimullerian hormone level": "HP:0031101", + "Increased circulating antimullerian hormone concentration": "HP:0031102", + "Increased antimullerian hormone level": "HP:0031102", + "Increased plasma AMH": "HP:0031102", + "Decreased circulating antimullerian hormone circulation": "HP:0031103", + "Anti-Mullerian hormone low": "HP:0031103", + "Decreased antimullerian hormone level": "HP:0031103", + "Decreased plasma AMH": "HP:0031103", + "Insulin receptor antibody positivity": "HP:0031104", + "Abnormal uterus morphology": "HP:0031105", + "T-shaped uterus": "HP:0031106", + "Decreased fibular diameter": "HP:0031107", + "Thin fibula": "HP:0031107", + "Triceps weakness": "HP:0031108", + "Agalactia": "HP:0031109", + "Lactation incapacity": "HP:0031109", + "Twin-to-twin transfusion": "HP:0031110", + "Twin to twin transfusion syndrome": "HP:0031110", + "Cutaneous hamartoma": "HP:0031111", + "Skin hamartoma": "HP:0031111", + "Purely bicuspid aortic valve": "HP:0031117", + "Single raphe bicuspid aortic valve": "HP:0031118", + "Bicuspid aortic valve with right-left cusp fusion": "HP:0031119", + "Bicuspid aortic valve with right-noncoronary cusp fusion": "HP:0031120", + "Bicuspid aortic valve with left-noncoronary cusp fusion": "HP:0031121", + "Two-raphe bicuspid aortic valve": "HP:0031122", + "Recurrent gastroenteritis": "HP:0031123", + "Decreased platelet thromboxane A2 receptor": "HP:0031124", + "Decreased platelet alpha-2A-adrenergic receptor": "HP:0031125", + "Impaired clot retraction": "HP:0031126", + "Impaired convulxin-induced platelet aggregation": "HP:0031127", + "Impaired collagen-related peptide-induced platelet aggregation": "HP:0031128", + "Impaired phorbol myristate acetate-induced platelet aggregation": "HP:0031129", + "Impaired calcium ionophore-induced platelet aggregation": "HP:0031130", + "Impaired Ca ionophore-induced platelet aggregation": "HP:0031130", + "Impaired Ca2+ ionophore-induced platelet aggregation": "HP:0031130", + "Abnormal platelet phosphatidylserine exposure": "HP:0031131", + "Impaired annexin V binding to platelet phosphatidylserine": "HP:0031132", + "Increased annexin V binding to platelet phosphatidylserine": "HP:0031133", + "Cor triatriatum sinister": "HP:0031134", + "Triggered by physical trauma": "HP:0031135", + "Physical trauma triggered symptoms": "HP:0031135", + "Decreased acrosin in sperm head": "HP:0031136", + "Storage in hepatocytes": "HP:0031137", + "Abnormal circulating B-type natriuretic peptide concentration": "HP:0031138", + "Abnormal B-type natriuretic peptide level": "HP:0031138", + "Frog-leg posture": "HP:0031139", + "Abnormal liver sonography": "HP:0031140", + "Increased hepatic echogenicity": "HP:0031141", + "Hyperechogenic liver": "HP:0031141", + "Abnormal hepatic echogenicity": "HP:0031142", + "Decreased hepatic echogenicity": "HP:0031143", + "Hypoechogenic liver": "HP:0031143", + "Coarsened hepatic echotexture": "HP:0031144", + "Starry sky appearance on hepatic sonography": "HP:0031145", + "Impaired oral bolus formation": "HP:0031146", + "Vitreomacular adhesion": "HP:0031150", + "VMA": "HP:0031150", + "Vitreomacular traction": "HP:0031151", + "VMT": "HP:0031151", + "Full-thickness macular hole": "HP:0031152", + "FTMH": "HP:0031152", + "Membranous vitreous appearance": "HP:0031153", + "Membranous anomaly": "HP:0031153", + "Membranous vitreous": "HP:0031153", + "Membranous vitreous phenotype": "HP:0031153", + "Beaded vitreous appearance": "HP:0031154", + "Increased Arden ratio of electrooculogram": "HP:0031155", + "Increased Arden ratio of EOG": "HP:0031155", + "Decreased platelet glycoprotein Ib": "HP:0031156", + "Carotid cavernous fistula": "HP:0031157", + "Caroticocavernous fistula": "HP:0031157", + "Widened atrophic scar": "HP:0031158", + "Thinning of Descemet membrane": "HP:0031159", + "Myelokathexis": "HP:0031160", + "Reduced brain glutamate level by MRS": "HP:0031161", + "Impaired oropharyngeal swallow response": "HP:0031162", + "Low femoral bone density": "HP:0031163", + "Low femur bone density": "HP:0031163", + "Growth arrest lines": "HP:0031164", + "Growth resumption lines": "HP:0031164", + "Harris lines": "HP:0031164", + "Multifocal seizures": "HP:0031165", + "Multifocal onset seizures": "HP:0031165", + "Eyelid myokymia": "HP:0031166", + "Myokymia orbicularis": "HP:0031166", + "Orbicularis myokymia": "HP:0031166", + "Triggered by ingestion of potassium-rich food": "HP:0031167", + "Potassium-rich food triggered symptoms": "HP:0031167", + "Triggered by ingestion of K-rich food": "HP:0031167", + "Postterm pregnancy": "HP:0031169", + "Female fetal virilization": "HP:0031170", + "Female foetal virilization": "HP:0031170", + "Femoral spur": "HP:0031171", + "Spurring of femur": "HP:0031171", + "Sectoral retinitis pigmentosa": "HP:0031172", + "Tibial spur": "HP:0031173", + "Spurring of tibiae": "HP:0031173", + "Double-layered patella": "HP:0031174", + "Absent cervical vertebra": "HP:0031175", + "Absent thoracic vertebra": "HP:0031176", + "Finger flexor weakness": "HP:0031177", + "Fixed head retroflexion": "HP:0031178", + "Nuchal rigidity": "HP:0031179", + "Meningism": "HP:0031179", + "Erythema migrans": "HP:0031180", + "Erythema chronicum migrans": "HP:0031180", + "Necrolytic migratory erythema": "HP:0031181", + "Increased circulating NT-proBNP concentration": "HP:0031185", + "Increased NT-proBNP level": "HP:0031185", + "Abnormal circulating deoxycorticosterone level": "HP:0031186", + "Abnormal circulating pregnenolone concentration": "HP:0031187", + "Abnormality of circulating pregnenolone level": "HP:0031187", + "Genital edema": "HP:0031188", + "Genital oedema": "HP:0031188", + "Wrist drop": "HP:0031189", + "Superficial dermal perivascular inflammatory infiltrate": "HP:0031190", + "Superficial perivascular inflammatory infiltrate": "HP:0031190", + "Deep dermal perivascular inflammatory infiltrate": "HP:0031191", + "Deep perivascular inflammatory infiltrate": "HP:0031191", + "Abnormal morphology of left ventricular trabeculae": "HP:0031192", + "Abnormal morphology of right ventricular trabeculae": "HP:0031193", + "Increased density of left ventricular trabeculae": "HP:0031194", + "Apical hypertrabeculation of the left ventricle": "HP:0031195", + "Thin myocardium compact layer": "HP:0031196", + "Cellular urinary casts": "HP:0031197", + "Cellular casts": "HP:0031197", + "Renal tubular epithelial cell casts": "HP:0031198", + "Acellular urinary casts": "HP:0031199", + "Acellular casts": "HP:0031199", + "Hyaline casts": "HP:0031200", + "Granular casts": "HP:0031201", + "Waxy casts": "HP:0031202", + "Fatty casts": "HP:0031203", + "Bacterial cell casts": "HP:0031204", + "Reduced lysosomal acid lipase activity": "HP:0031205", + "Reduced leukocyte acid lipase activity": "HP:0031205", + "Striatal T2 hyperintensity": "HP:0031206", + "Hepatic hemangioma": "HP:0031207", + "Hemangioma of the liver": "HP:0031207", + "Liver hemangioma": "HP:0031207", + "Increased pituitary glycoprotein hormone alpha subunit level": "HP:0031208", + "Increased pituitary glycoprotein alpha subunit level": "HP:0031208", + "Increased pituitary glycoprotein polypeptide alpha subunit level": "HP:0031208", + "Decreased circulating lipoprotein lipase concentration": "HP:0031209", + "Decreased lipoprotein lipase level": "HP:0031209", + "Abnormal circulating hyaluronic acid concentration": "HP:0031210", + "Elevated cholesterol ester level": "HP:0031211", + "Elevated cholesteryl ester level": "HP:0031211", + "Increased cholesterol esters": "HP:0031211", + "Increased cholesteryl esters": "HP:0031211", + "Abnormal circulating progesterone level": "HP:0031212", + "Elevated circulating 17-hydroxyprogesterone concentration": "HP:0031213", + "Elevated circulating 17-OHP": "HP:0031213", + "Elevated circulating 17-hydroxyprogesterone": "HP:0031213", + "Decreased circulating dehydroepiandrosterone concentration": "HP:0031214", + "Decreased circulating dehydroepiandrosterone level": "HP:0031214", + "Decreased circulating dehydroepiandrosterone-sulfate concentration": "HP:0031215", + "Decreased circulating dehydroepiandrosterone-sulfate level": "HP:0031215", + "Increased circulating progesterone": "HP:0031216", + "Hot flashes": "HP:0031217", + "Inappropriate antidiuretic hormone secretion": "HP:0031218", + "Inappropriate ADH secretion": "HP:0031218", + "SIADH": "HP:0031218", + "Syndrome of inappropriate antidiuretic hormone secretion": "HP:0031218", + "Reduced radioactive iodine uptake": "HP:0031219", + "Increased radioactive iodine uptake": "HP:0031220", + "Abnormal radioactive iodine uptake test result": "HP:0031221", + "Increased circulating thyroxine-binding globulin level": "HP:0031222", + "Thyroxine-binding globulin high in blood": "HP:0031222", + "Focal pancreatic islet hyperplasia": "HP:0031223", + "Diffuse pancreatic islet hyperplasia": "HP:0031224", + "Intrapulmonary shunt": "HP:0031225", + "Intrapulmonary shunting": "HP:0031225", + "Perinephric fluid collection": "HP:0031226", + "Nasopharyngeal teratoma": "HP:0031227", + "Abnormal incisura morphology": "HP:0031228", + "Increased incisura length": "HP:0031229", + "Decreased incisura length": "HP:0031230", + "Narrow incisura width": "HP:0031231", + "Increased incisura width": "HP:0031232", + "Horizontal inferior border of scapula": "HP:0031233", + "Squaring of the inferior scapulae": "HP:0031233", + "Squaring of the scapula": "HP:0031233", + "Neutrophilic infiltration of the skin": "HP:0031234", + "Predominantly epidermal neutrophilic infiltrate": "HP:0031235", + "Predominantly dermal neutrophilic infiltrate": "HP:0031236", + "Internally nucleated skeletal muscle fibers": "HP:0031237", + "Internally nucleated skeletal muscle fibres": "HP:0031237", + "Necklace skeletal muscle fibers": "HP:0031238", + "Necklace skeletal muscle fibres": "HP:0031238", + "Extrafoveal choroidal neovascularization": "HP:0031239", + "Juxtafoveal choroidal neovascularization": "HP:0031240", + "Subfoveal choroidal neovascularization": "HP:0031241", + "Decreased circulating chylomicron concentration": "HP:0031242", + "Decreased circulating chylomicron levels": "HP:0031242", + "Hypochylomicronemia": "HP:0031242", + "Decreased VLDL cholesterol concentration": "HP:0031243", + "Decreased circulating very-low-density lipoprotein levels": "HP:0031243", + "Swollen lip": "HP:0031244", + "Edematous lip": "HP:0031244", + "Lip swelling": "HP:0031244", + "Swelling of the lip": "HP:0031244", + "Productive cough": "HP:0031245", + "Cough with mucus production": "HP:0031245", + "Wet cough": "HP:0031245", + "Nonproductive cough": "HP:0031246", + "Dry cough": "HP:0031246", + "Dry coughing": "HP:0031246", + "Whooping cough": "HP:0031247", + "Palmar pruritus": "HP:0031248", + "Itchy palm": "HP:0031248", + "Parageusia": "HP:0031249", + "Altered sense of taste": "HP:0031249", + "Dysgeusia": "HP:0031249", + "Metallic taste": "HP:0031249", + "Metallic taste in mouth": "HP:0031249", + "Lip fissure": "HP:0031250", + "Abnormal subclavian artery morphology": "HP:0031251", + "Dilated left subclavian artery": "HP:0031252", + "Anomalous origin of left subclavian artery": "HP:0031253", + "Thalamic arteriovenous malformation": "HP:0031254", + "Hypothalamic arteriovenous malformation": "HP:0031255", + "Optic nerve arteriovenous malformation": "HP:0031256", + "Arteriovenous malformation of the maxilla": "HP:0031257", + "Delirium": "HP:0031258", + "Altered consciousness or cognition": "HP:0031258", + "Oophoritis": "HP:0031259", + "Inflammed ovary": "HP:0031259", + "Triangular tibia": "HP:0031260", + "Bladder polyp": "HP:0031261", + "Abnormal renal corpuscle morphology": "HP:0031263", + "Abnormal Bowman capsule morphology": "HP:0031264", + "Abnormal morphology of Bowman capsule": "HP:0031264", + "Abnormal morphology of Bowman's capsule": "HP:0031264", + "Abnormal renal glomerular capsule morphology": "HP:0031264", + "Abnormal glomerular visceral epithelial cell morphology": "HP:0031265", + "Abnormal podocyte morphology": "HP:0031265", + "Abnormal visceral epithelial cell morphology": "HP:0031265", + "Podocyte foot process effacement": "HP:0031266", + "Loss of primary podocyte processes": "HP:0031266", + "Abnormal CD69 upregulation upon TCR activation": "HP:0031267", + "Decreased CD69 upregulation upon TCR activation": "HP:0031268", + "Abnormal CD25 upregulation upon TCR activation": "HP:0031269", + "Decreased CD25 upregulation upon TCR activation": "HP:0031270", + "Poor CD25 upregulation upon TCR activation": "HP:0031270", + "Reduced IL2RA upregulation upon TCR activation": "HP:0031270", + "Absent ankle pulse": "HP:0031271", + "Pulmonary arterial atherosclerosis": "HP:0031272", + "Shock": "HP:0031273", + "Hypovolemic shock": "HP:0031274", + "Distributive shock": "HP:0031275", + "Obstructive shock": "HP:0031276", + "Abnormal thoracic duct morphology": "HP:0031278", + "Abnormal response to gonadotropin-releasing hormone stimulation test": "HP:0031279", + "Abnormal response to GnRH stimulation test": "HP:0031279", + "Increased LH response to gonadotropin-releasing hormone stimulation test": "HP:0031280", + "Sialadenitis": "HP:0031281", + "Malalignment of the great toenail": "HP:0031282", + "Tufted hairs": "HP:0031283", + "Flushing": "HP:0031284", + "Abnormal perifollicular morphology": "HP:0031285", + "Perifollicular erythema": "HP:0031286", + "Seborrheic keratosis": "HP:0031287", + "Basal cell papilloma": "HP:0031287", + "Seborrheic verruca": "HP:0031287", + "Senile wart": "HP:0031287", + "Cobblestone-like hyperkeratosis": "HP:0031288", + "White papule": "HP:0031289", + "Tuberous xanthoma": "HP:0031290", + "Ichthyosis follicularis": "HP:0031291", + "Cutaneous abscess": "HP:0031292", + "Skin abscess": "HP:0031292", + "Digital pitting scar": "HP:0031293", + "Hypoplastic right atrium": "HP:0031294", + "Left atrial enlargement": "HP:0031295", + "Enlarged heart left atrium": "HP:0031295", + "Atrial septal hypertrophy": "HP:0031296", + "Unroofed coronary sinus": "HP:0031297", + "Coronary sinus enlargement": "HP:0031298", + "Coronary sinus dilatation": "HP:0031298", + "Enlarged coronary sinus": "HP:0031298", + "Elevated left atrial pressure": "HP:0031299", + "Abnormal circulating properdin level": "HP:0031300", + "Peripheral arterial calcification": "HP:0031301", + "Peripheral artery calcification": "HP:0031301", + "Lower extremity peripheral arterial calcification": "HP:0031302", + "Lower extremity peripheral artery calcification": "HP:0031302", + "Femoral arterial calcification": "HP:0031303", + "Iliac arterial calcification": "HP:0031304", + "Tibial arterial calcification": "HP:0031305", + "Intracranial arterial calcification": "HP:0031306", + "Internal carotid artery calcification": "HP:0031307", + "Vertebral artery calcification": "HP:0031308", + "Cerebral artery calcification": "HP:0031309", + "Basilar artery calcification": "HP:0031310", + "Middle cerebral artery calcification": "HP:0031311", + "Abdominal aortic calcification": "HP:0031313", + "Carotid artery calcification": "HP:0031314", + "External carotid artery calcification": "HP:0031315", + "Abnormal ventricular myocardium morphology": "HP:0031316", + "Fatty replacement of ventricular myocardial tissue": "HP:0031317", + "Fatty infiltration of cardiac ventricle": "HP:0031317", + "Intramyocardial fat infiltration": "HP:0031317", + "Myofiber disarray": "HP:0031318", + "Myocardial fiber disarray": "HP:0031318", + "Myocardial fibre disarray": "HP:0031318", + "Cardiomyocyte hypertrophy": "HP:0031319", + "Myocyte cellular hypertrophy": "HP:0031319", + "Cardiomyocyte mitochondrial proliferation": "HP:0031320", + "Myocardial immune cell infiltration": "HP:0031321", + "Myocardial lymphocytic infiltration": "HP:0031322", + "Myocardial eosinophilic infiltration": "HP:0031323", + "Myocardial multinucleated giant cells": "HP:0031324", + "Myocardial granulomatous infiltrates": "HP:0031325", + "Monoclonal light chain cardiac amyloidosis": "HP:0031326", + "Transthyretin cardiac amyloidosis": "HP:0031327", + "TTR cardiac amyloidosis": "HP:0031327", + "Perivascular cardiac fibrosis": "HP:0031328", + "Interstitial cardiac fibrosis": "HP:0031329", + "Perivascular myocardial immune cell infiltration": "HP:0031330", + "Abnormal cardiomyocyte morphology": "HP:0031331", + "Abnormal cardiac muscle cell morphology": "HP:0031331", + "Cardiomyocyte degeneration": "HP:0031332", + "Myocardial sarcomeric disarray": "HP:0031333", + "Cardiac biopsy: myocyte disarray": "HP:0031333", + "Cardiomyocyte disarray": "HP:0031333", + "Myocardial sarcomere disarray": "HP:0031333", + "Cardiomyocyte inclusion bodies": "HP:0031334", + "Abnormal cardiomyocyte mitochondrial morphology": "HP:0031335", + "Intranuclear cardiomyocyte mitochondria": "HP:0031336", + "Abnormal cardiomyocyte connexin43 staining": "HP:0031337", + "Abnormal cardiomyocyte plakoglobin staining": "HP:0031338", + "Abnormal cardiomyocyte dystrophin staining": "HP:0031339", + "Abnormal lysosomal morphology": "HP:0031340", + "Gastric arteriovenous malformation": "HP:0031341", + "Duodenal arteriovenous malformation": "HP:0031342", + "Jejunal arteriovenous malformation": "HP:0031343", + "Pelvic arteriovenous malformation": "HP:0031344", + "Colonic arteriovenous malformation": "HP:0031345", + "Rectal arteriovenous malformation": "HP:0031346", + "Uterine arteriovenous malformation": "HP:0031347", + "Dextrotransposition of the great arteries": "HP:0031348", + "D-TGA": "HP:0031348", + "D-loop transposition of the great arteries": "HP:0031348", + "Levotransposition of the great arteries": "HP:0031349", + "L-TGA": "HP:0031349", + "Cardiac sarcoma": "HP:0031350", + "Calcified amorphous tumor of the heart": "HP:0031351", + "Calcified amorphous tumour of the heart": "HP:0031351", + "Chest tightness": "HP:0031352", + "Tightness in chest": "HP:0031352", + "Tightness of chest": "HP:0031352", + "Chest distress": "HP:0031352", + "Otitis media with effusion": "HP:0031353", + "Fluid behind eardrum": "HP:0031353", + "Middle ear effusions": "HP:0031353", + "OME": "HP:0031353", + "Sleep onset insomnia": "HP:0031354", + "Difficulty falling asleep": "HP:0031354", + "Increased sleep latency": "HP:0031354", + "Insomnia early": "HP:0031354", + "Insomnia initial": "HP:0031354", + "Trouble falling asleep": "HP:0031354", + "Maintenance insomnia": "HP:0031355", + "Insomnia middle": "HP:0031355", + "Middle insomnia": "HP:0031355", + "Waking up several times during the night": "HP:0031355", + "Terminal insomnia": "HP:0031356", + "Early morning awakening": "HP:0031356", + "Late insomnia": "HP:0031356", + "Glomeruloid hemangioma": "HP:0031357", + "Vegetative state": "HP:0031358", + "Unresponsive wakefulness": "HP:0031358", + "Cutaneous sclerotic plaque": "HP:0031359", + "Yellow skin plaque": "HP:0031360", + "Zebra bodies": "HP:0031361", + "obsolete Sex-limited autosomal recessive inheritance": "HP:0031362", + "Palpable purpura": "HP:0031363", + "Ecchymosis": "HP:0031364", + "Ecchymoses": "HP:0031364", + "Macular purpura": "HP:0031365", + "Flat purpura": "HP:0031365", + "Palate neoplasm": "HP:0031366", + "Metaphyseal striations": "HP:0031367", + "Striated metaphysis": "HP:0031367", + "Intestinal perforation": "HP:0031368", + "Colon perforation": "HP:0031369", + "Perforation of the colon": "HP:0031369", + "Small intestinal perforation": "HP:0031370", + "Rectal perforation": "HP:0031371", + "Cold paresis": "HP:0031372", + "Stiff tongue": "HP:0031373", + "Tongue stiffness": "HP:0031373", + "Ankle weakness": "HP:0031374", + "Refractory": "HP:0031375", + "Abnormal cell proliferation": "HP:0031377", + "Abnormal lymphocyte proliferation": "HP:0031378", + "Abnormal T cell proliferation": "HP:0031379", + "Abnormal B cell proliferation": "HP:0031380", + "Decreased lymphocyte proliferation in response to mitogen": "HP:0031381", + "Reduced lymphocyte proliferation to mitogen": "HP:0031381", + "Decreased lymphocyte proliferation in response to anti-CD3": "HP:0031382", + "Defective lymphocyte proliferation to anti-CD3": "HP:0031382", + "Defective proliferation of lymphocytes following anti-CD3 stimulation": "HP:0031382", + "Abnormal lymphocyte surface marker expression": "HP:0031383", + "Reduced T cell CD40 expression": "HP:0031384", + "Megakaryocyte nucleus hypolobulation": "HP:0031385", + "Increased micromegakaryocyte count": "HP:0031386", + "Increased multinucleated megakaryocyte count": "HP:0031387", + "Megakaryocyte nucleus hyperlobulation": "HP:0031388", + "Abnormal MHC II cell surface expression": "HP:0031389", + "Abnormal human leukocyte antigen class II surface expression": "HP:0031389", + "Abnormal major histocompatibility complex class II surface expression": "HP:0031389", + "Reduced MHC II cell surface expression": "HP:0031390", + "Abnormal HLA class II surface expression": "HP:0031390", + "Reduced human leukocyte antigen class II surface expression": "HP:0031390", + "Elevated MHC II cell surface expression": "HP:0031391", + "Abnormal proportion of CD4-positive T cells": "HP:0031392", + "Abnormal proportion of CD4+ T cells": "HP:0031392", + "Abnormal proportion of CD4-positive, alpha-beta T cells": "HP:0031392", + "Abnormal proportion of CD8-positive T cells": "HP:0031393", + "Abnormal proportion of CD8+ T cells": "HP:0031393", + "Abnormal proportion of CD8-positive, alpha-beta T cells": "HP:0031393", + "Abnormal CD4:CD8 ratio": "HP:0031394", + "Abnormal proportion of naive T cells": "HP:0031396", + "Abnormal naive T cell proportion": "HP:0031396", + "Abnormal proportion of naive thymus-derived, alpha-beta T cells": "HP:0031396", + "Decreased proportion of naive T cells": "HP:0031397", + "Decreased proportion of naive thymus-derived, alpha-beta T cells": "HP:0031397", + "Reduced proportion of naive T cells": "HP:0031397", + "Increased proportion of naive T cells": "HP:0031398", + "Elevated proportion of naive T cells": "HP:0031398", + "Increased proportion of naive thymus-derived, alpha-beta T cells": "HP:0031398", + "Abnormal proportion of double-negative alpha-beta regulatory T cell": "HP:0031399", + "Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution": "HP:0031399", + "Abnormal DN Treg distribution": "HP:0031399", + "Abnormal Double negative Treg distribution": "HP:0031399", + "Abnormal double-negative alpha-beta regulatory T cell distribution": "HP:0031399", + "Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells": "HP:0031401", + "Reduced antigen-specific T cell proliferation": "HP:0031402", + "Impaired cellular adaptive immune response": "HP:0031402", + "Antigen-specific T cell proliferation defect": "HP:0031402", + "Impaired Ag-specific T cell proliferation": "HP:0031402", + "Impaired activated T cell proliferation": "HP:0031402", + "Impaired pathogen-specific CD8 cytoxicity": "HP:0031403", + "Pathogen-specific CD8 cytoxicity defect": "HP:0031403", + "Impaired antigen-specific response": "HP:0031404", + "Impaired adaptive immune response": "HP:0031404", + "Poroma": "HP:0031405", + "Abnormal cytokine signaling": "HP:0031406", + "Abnormal cytokine signalling": "HP:0031406", + "Impaired cytokine signaling": "HP:0031407", + "Cytokine signaling defect": "HP:0031407", + "Cytokine signalling defect": "HP:0031407", + "Impaired cytokine signalling": "HP:0031407", + "Increased proportion of CD25+ mast cells": "HP:0031408", + "Abnormal lymphocyte physiology": "HP:0031409", + "Abnormal distribution of CD56 bright/dim natural killer cells": "HP:0031410", + "Abnormal distribution of CD56 bright/dim NK cells": "HP:0031410", + "Abnormal chromosome morphology": "HP:0031411", + "Abnormal telomere morphology": "HP:0031412", + "Short telomere length": "HP:0031413", + "High serum calcifediol": "HP:0031414", + "High serum 25-hydroxycholecalciferol": "HP:0031414", + "High serum calcidiol": "HP:0031414", + "High serum calcitriol": "HP:0031415", + "High serum 1,25-dihydroxycholecalciferol": "HP:0031415", + "High serum 1,25-dihydroxyvitamin D3": "HP:0031415", + "Increased serum 1,25-dihydroxyvitamin D3": "HP:0031415", + "Increased serum calcitriol": "HP:0031415", + "Abnormal nasal mucus secretion": "HP:0031416", + "Rhinorrhea": "HP:0031417", + "Nasal Discharge": "HP:0031417", + "Runny Nose": "HP:0031417", + "Increased body mass index": "HP:0031418", + "Increased BMI": "HP:0031418", + "Reduced sex -hormone binding protein level": "HP:0031419", + "Reduced androgen-binding protein level": "HP:0031419", + "Small yellow foveal lesion with surrounding gray zone": "HP:0031420", + "Small yellow foveal lesion with surrounding grey zone": "HP:0031420", + "Laser pointer-induced maculopathy": "HP:0031420", + "Laser pointer-induced retinopathy": "HP:0031420", + "Light induced retinopathy": "HP:0031420", + "Photic retinopathy": "HP:0031420", + "Solar retinitis": "HP:0031420", + "Solar retinopathy": "HP:0031420", + "Small superior frontal cortex": "HP:0031421", + "Abnormal cerebellar cortex morphology": "HP:0031422", + "Abnormal morphology of the cerebellar cortex": "HP:0031422", + "Small cerebellar cortex": "HP:0031423", + "Abnormal circulating beta-C-terminal telopeptide concentration": "HP:0031424", + "Abnormal circulating beta-C-terminal telopeptide level": "HP:0031424", + "Abnormal circulating beta-CTx level": "HP:0031424", + "Abnormal circulating beta-CrossLaps level": "HP:0031424", + "Increased circulating beta-C-terminal telopeptide concentration": "HP:0031425", + "Increased circulating beta-C-terminal telopeptide level": "HP:0031425", + "Increased circulating beta-CTx level": "HP:0031425", + "Increased circulating beta-CrossLaps level": "HP:0031425", + "Decreased circulating beta-C-terminal telopeptide concentration": "HP:0031426", + "Decreased circulating beta-C-terminal telopeptide level": "HP:0031426", + "Decreased circulating beta-CTx level": "HP:0031426", + "Decreased circulating beta-CrossLaps level": "HP:0031426", + "Abnormal circulating osteocalcin level": "HP:0031427", + "Increased circulating osteocalcin level": "HP:0031428", + "Decreased circulating osteocalcin level": "HP:0031429", + "Oligoclonal T cell expansion": "HP:0031430", + "Persistent repetition of sounds": "HP:0031431", + "Restricted or repetitive behaviors or interests": "HP:0031432", + "Alexithymia": "HP:0031433", + "Unaware of others' emotions": "HP:0031433", + "Abnormal prosody": "HP:0031434", + "Monotonic speech": "HP:0031435", + "Flat speech": "HP:0031435", + "Singsong Intonation": "HP:0031436", + "Melodic speech": "HP:0031436", + "Sing song intonation": "HP:0031436", + "Sing-song intonation": "HP:0031436", + "Pregnancy exposure": "HP:0031437", + "Exposure during pregnancy": "HP:0031437", + "Abnormal sex hormone-binding globulin level": "HP:0031438", + "Abnormal angiostatin level": "HP:0031439", + "obsolete Abnormal tricuspid valve morphology": "HP:0031440", + "Abnormal tricuspid valve annulus morphology": "HP:0031441", + "Abnormal tricuspid chordae tendinae morphology": "HP:0031442", + "Abnormal tricuspid valve leaflet morphology": "HP:0031443", + "Dilatation of the tricuspid annulus": "HP:0031444", + "Oral mucosa nodule": "HP:0031445", + "Erosion of oral mucosa": "HP:0031446", + "Penile freckling": "HP:0031447", + "Herpetiform vesicles": "HP:0031448", + "Perineal hemangioma": "HP:0031449", + "Polycyclic": "HP:0031450", + "Lower extremity subcutanous fat hypertrophy": "HP:0031451", + "Lichenoid skin lesion": "HP:0031452", + "Oral lichenoid lesion": "HP:0031453", + "Apocrine hidrocystoma": "HP:0031454", + "Presacral ganglioneuroma": "HP:0031455", + "Ectopic pregnancy": "HP:0031456", + "Pulmonary opacity": "HP:0031457", + "Adenoiditis": "HP:0031458", + "Soft tissue neoplasm": "HP:0031459", + "Benign muscle neoplasm": "HP:0031460", + "Intramuscular Myxoma": "HP:0031461", + "IM Myxoma": "HP:0031461", + "Musculotendinous retraction": "HP:0031462", + "Esophageal squamous papilloma": "HP:0031463", + "Genital blistering": "HP:0031464", + "Abnormal vasa vasorum morphology": "HP:0031465", + "Impairment in personality functioning": "HP:0031466", + "Abnormal negative emotional state": "HP:0031467", + "Negative affect": "HP:0031467", + "Neuroticism": "HP:0031467", + "Separation insecurity": "HP:0031468", + "Low self-esteem": "HP:0031469", + "Worthlessness": "HP:0031469", + "Risky behavior": "HP:0031472", + "Anger": "HP:0031473", + "Hostile": "HP:0031473", + "Hostility": "HP:0031473", + "Pulmonary chondroma": "HP:0031474", + "Status epilepticus without prominent motor symptoms": "HP:0031475", + "Nonconvulsive status epilepticus": "HP:0031475", + "Abnormal buccal mucosa cell morphology": "HP:0031476", + "obsolete Abnormal mitral valve morphology": "HP:0031477", + "Abnormal mitral valve annulus morphology": "HP:0031478", + "Dilatation of the mitral annulus": "HP:0031479", + "Abnormal mitral valve leaflet morphology": "HP:0031480", + "Abnormal mitral valve physiology": "HP:0031481", + "Abnormal regional left ventricular contraction": "HP:0031482", + "Reduced contraction of the left ventricular apex": "HP:0031483", + "Left ventricular apical hypokinesis": "HP:0031483", + "Cold-induced hemolysis": "HP:0031484", + "Subperiosteal bone formation": "HP:0031485", + "Periosteal reaction": "HP:0031485", + "Vascular malformation of the lip": "HP:0031486", + "Capillary malformation of the lip": "HP:0031487", + "Arteriovenous malformation of the lip": "HP:0031488", + "Atypical connection between arteries and veins": "HP:0031488", + "Venous malformation of the lip": "HP:0031489", + "Hemangioma of the lip": "HP:0031490", + "Continuous spike and waves during slow sleep": "HP:0031491", + "CSWS": "HP:0031491", + "Electrical status epilepticus during slow-wave sleep": "HP:0031491", + "Epithelial neoplasm": "HP:0031492", + "Glandular cell neoplasm": "HP:0031493", + "Ovarian mucinous tumor": "HP:0031494", + "Mucinous neoplasm of the ovary": "HP:0031494", + "Ovarian mucinous tumour": "HP:0031494", + "Mucinous neoplasm": "HP:0031495", + "Mucinous cystic neoplasm of the pancreas": "HP:0031496", + "Mucinous colorectal carcinoma": "HP:0031497", + "Mucinous gastric carcinoma": "HP:0031498", + "Appendiceal mucinous neoplasm": "HP:0031499", + "Abdominal mass": "HP:0031500", + "Pelvic mass": "HP:0031501", + "Trophoblastic tumor": "HP:0031502", + "Trophoblastic tumour": "HP:0031502", + "Night gasping": "HP:0031503", + "Foamy urine": "HP:0031504", + "Frothy urine": "HP:0031504", + "Abnormal circulating T4 concentration": "HP:0031505", + "Abnormal circulating T4 level": "HP:0031505", + "Abnormal circulating thyroxine level": "HP:0031505", + "Increased circulating T4 concentration": "HP:0031506", + "Increased circulating T4 level": "HP:0031506", + "Increased circulating thyroxine level": "HP:0031506", + "Decreased circulating T4 concentration": "HP:0031507", + "Decreased circulating T4 level": "HP:0031507", + "Decreased circulating thyroxine level": "HP:0031507", + "Reduced T4 plasma level": "HP:0031507", + "Abnormal circulating thyroid hormone concentration": "HP:0031508", + "Abnormal thyroid hormone level": "HP:0031508", + "Dry nipple": "HP:0031509", + "Linear earlobe crease": "HP:0031510", + "Diagonal earlobe crease": "HP:0031511", + "Abnormal cutaneous collagen fibril morphology": "HP:0031512", + "Luse bodies": "HP:0031513", + "Increased proportion of exhausted T cells": "HP:0031514", + "Abnormal meiosis": "HP:0031515", + "Oocyte arrest at metaphase I": "HP:0031516", + "Metaphase I oocyte meiotic arrest": "HP:0031516", + "Oocyte meiotic arrest at metaphase I": "HP:0031516", + "Verruciform xanthoma": "HP:0031517", + "Absent posterior alpha rhythm": "HP:0031518", + "Cauliflower deformity of dermal collagen fibrils": "HP:0031519", + "Groin pain": "HP:0031520", + "Vaginal clear cell adenocarcinoma": "HP:0031521", + "Clear cell adenocarcinoma of the vagina": "HP:0031521", + "Cervical clear cell adenocarcinoma": "HP:0031522", + "Clear cell carcinoma of cervix": "HP:0031522", + "Salivary gland oncocytoma": "HP:0031523", + "Parotid oncocytoma": "HP:0031523", + "Ampulla of Vater carcinoma": "HP:0031524", + "Keratoacanthoma": "HP:0031525", + "Subretinal fluid": "HP:0031526", + "Sub-retinal fluid": "HP:0031526", + "Retinal edema": "HP:0031527", + "Intra-retinal fluid": "HP:0031527", + "Intraretinal fluid": "HP:0031527", + "Subretinal deposits": "HP:0031528", + "Focal subretinal deposits": "HP:0031529", + "Multifocal subretinal deposits": "HP:0031530", + "Sub-RPE deposits": "HP:0031531", + "Focal sub-RPE deposits": "HP:0031532", + "Multifocal sub-RPE deposits": "HP:0031533", + "Passive dorsiflexion of the 5th finger more than 90 degrees": "HP:0031534", + "Increased theta frequency activity in EEG": "HP:0031535", + "Separate origin of the left anterior descending and left circumflex artery": "HP:0031536", + "Anomalous origin of the left circumflex artery from the right coronary artery": "HP:0031537", + "Abnormal dermoepidermal junction morphology": "HP:0031538", + "Linear IgA deposits along the epidermal basement membrane zone": "HP:0031539", + "Linear IgG deposits along the epidermal basement membrane zone": "HP:0031540", + "Linear C3 deposits along the epidermal basement membrane zone": "HP:0031541", + "Myelin-like whorls in vacuolated fibers": "HP:0031542", + "Myelin-like whorls in vacuolated fibres": "HP:0031542", + "Elevated circulating palmitoleylcarnitine concentration": "HP:0031544", + "Elevated circulating O-propionylcarnitine concentration": "HP:0031544", + "Elevated plasma palmitoleylcarnitine, C16:1": "HP:0031544", + "Elevated plasma propionylcarnitine, C3:0": "HP:0031544", + "Elevated propionylcarnitine level": "HP:0031544", + "Abnormally low T cell receptor excision circle level": "HP:0031545", + "Cardiac conduction abnormality": "HP:0031546", + "Abnormality of cardiac conduction": "HP:0031546", + "Abnormality of cardiac conduction system": "HP:0031546", + "Cardiac conduction abnormalities": "HP:0031546", + "Cardiac conduction defects": "HP:0031546", + "Heart conduction disorder": "HP:0031546", + "Abnormal QT interval": "HP:0031547", + "Follicular infundibulum tumor": "HP:0031548", + "Basal cell hamartoma with follicular differentiation": "HP:0031548", + "Follicular infundibulum tumour": "HP:0031548", + "Lymphocytoma cutis": "HP:0031549", + "Skin pseudolymphoma": "HP:0031549", + "Spiegler-Fendt sarcoid": "HP:0031549", + "Abnormal flow cytometry test result": "HP:0031550", + "Reduced cell surface marker level": "HP:0031551", + "Reduced fibroblast surface marker level": "HP:0031552", + "Reduced granulocyte surface marker level": "HP:0031553", + "Reduced granulocyte CD55 level": "HP:0031554", + "Reduced granulocyte CD59 level": "HP:0031555", + "Reduced granulocyte CD16 level": "HP:0031556", + "Reduced fibroblast CD55 level": "HP:0031557", + "Reduced fibroblast CD59 level": "HP:0031558", + "Reduced fibroblast CD16 level": "HP:0031559", + "Coronary cameral fistula": "HP:0031560", + "Coronary cameral fistula to right ventricle": "HP:0031561", + "Balanced double aortic arch": "HP:0031562", + "Coronary arteriovenous fistula": "HP:0031563", + "Bronchial isomerism": "HP:0031564", + "Abdominal situs ambiguus": "HP:0031565", + "Abnormal pulmonary valve cusp morphology": "HP:0031566", + "Abnormal aortic valve cusp morphology": "HP:0031567", + "Thickened aortic valve cusp": "HP:0031568", + "Absent aortic valve cusps": "HP:0031569", + "Absent aortic valve": "HP:0031569", + "Tessier number 0 facial cleft": "HP:0031570", + "Tessier facial cleft number 0": "HP:0031570", + "Paramedian facial cleft": "HP:0031571", + "Tessier number 1 facial cleft": "HP:0031572", + "Tessier number 2 facial cleft": "HP:0031573", + "Orbital cleft": "HP:0031574", + "Tessier number 3 facial cleft": "HP:0031575", + "Tessier number 4 facial cleft": "HP:0031576", + "Tessier number 5 facial cleft": "HP:0031577", + "Tessier number 6 facial cleft": "HP:0031578", + "Tessier facial cleft number 6": "HP:0031578", + "Tessier number 7 facial cleft": "HP:0031579", + "Tessier cleft number 7": "HP:0031579", + "Tessier facial cleft number 7": "HP:0031579", + "Tessier number 8 facial cleft": "HP:0031580", + "Tessier facial cleft number 8": "HP:0031580", + "Tessier number 9 facial cleft": "HP:0031581", + "Tessier number 10 facial cleft": "HP:0031582", + "Tessier number 11 facial cleft": "HP:0031583", + "Tessier number 12 facial cleft": "HP:0031584", + "Tessier number 13 facial cleft": "HP:0031585", + "Tessier number 14 facial cleft": "HP:0031586", + "Tessier facial cleft number 14": "HP:0031586", + "Tessier number 30 facial cleft": "HP:0031587", + "Unhappy demeanor": "HP:0031588", + "Unhappy demeanour": "HP:0031588", + "Suicidal ideation": "HP:0031589", + "Suicidal perseveration": "HP:0031589", + "Suicidality": "HP:0031589", + "Suicidal thoughts": "HP:0031589", + "Asthenopia": "HP:0031590", + "Eye strain": "HP:0031590", + "Enlarged Eustachian valve": "HP:0031591", + "Enlarged inferior vena cava valve": "HP:0031591", + "Giant Eustachian valve": "HP:0031591", + "Situs inversus with levocardia": "HP:0031592", + "Abnormal PR interval": "HP:0031593", + "PR segment depression": "HP:0031594", + "PR interval depression": "HP:0031594", + "PTa depression": "HP:0031594", + "Abnormal P wave": "HP:0031595", + "Abnormal PR segment": "HP:0031596", + "PR segment elevation": "HP:0031597", + "PR interval elevation": "HP:0031597", + "PTa elevation": "HP:0031597", + "Notched P wave": "HP:0031598", + "P mitrale": "HP:0031599", + "P wave inversion": "HP:0031600", + "P pulmonale": "HP:0031601", + "Abnormal mucociliary clearance": "HP:0031602", + "Abnormal mucociliary transport": "HP:0031602", + "Impaired nasal mucociliary clearance": "HP:0031603", + "Abnormal saccharine test": "HP:0031603", + "Agenesis of the carotid canal": "HP:0031604", + "Bony carotid canal agenesis": "HP:0031604", + "Abnormality of fundus pigmentation": "HP:0031605", + "Retinal cotton wool spot": "HP:0031606", + "Pelvic organ prolapse": "HP:0031607", + "Geographic atrophy": "HP:0031609", + "Recurrent shoulder dislocation": "HP:0031610", + "Multiple shoulder dislocation": "HP:0031610", + "Sub-inner limiting membrane hemorrhage": "HP:0031611", + "Sub-ILM haemorrhage": "HP:0031611", + "Sub-ILM hemorrhage": "HP:0031611", + "Sub-inner limiting membrane haemorrhage": "HP:0031611", + "Inferior chorioretinal coloboma": "HP:0031613", + "Inferior retinal coloboma": "HP:0031614", + "Hypopyon": "HP:0031615", + "Anterior chamber flare": "HP:0031616", + "Anterior chamber flare grade 1+": "HP:0031618", + "Anterior chamber flare grade 2+": "HP:0031619", + "Anterior chamber flare grade 3+": "HP:0031620", + "Anterior chamber flare grade 4+": "HP:0031621", + "Brown anomaly": "HP:0031622", + "Brown syndrome": "HP:0031622", + "Brow ptosis": "HP:0031623", + "Drooping brow": "HP:0031623", + "Moderate myopia": "HP:0031624", + "Pseudoaneurysm": "HP:0031625", + "Coronary ostial atresia": "HP:0031626", + "Atresia of coronary ostium": "HP:0031626", + "Globus pallidus calcification": "HP:0031627", + "Aborted sudden cardiac death": "HP:0031628", + "Sudden cardiac arrest": "HP:0031628", + "Impaired tandem gait": "HP:0031629", + "Clumsy tandem walking": "HP:0031629", + "Abnormal subpleural morphology": "HP:0031630", + "Subpleural honeycombing": "HP:0031631", + "Anomalous origin of the right subclavian artery from the descending aorta": "HP:0031632", + "Isolation of the left subclavian artery": "HP:0031633", + "Anomalous origin of the left common carotid artery from the main pulmonary artery": "HP:0031634", + "Anomalous origin of the left common carotid artery from the brachiocephalic artery": "HP:0031635", + "Anomalous origin of the left common carotid artery from the brachiocephalic trunk": "HP:0031635", + "Anomalous origin of the right common carotid artery from the aorta": "HP:0031636", + "Right coronary artery ostial atresia": "HP:0031637", + "Anomalous origin of the left anterior descending artery from the pulmonary artery": "HP:0031638", + "Absent left main coronary artery": "HP:0031639", + "Absent LMCA": "HP:0031639", + "Abnormal radial artery morphology": "HP:0031640", + "Fusiform ascending tubular aorta aneurysm": "HP:0031643", + "Fusiform abdominal aortic aneurysm": "HP:0031644", + "Saccular abdominal aortic aneurysm": "HP:0031645", + "Fusiform aortic arch aneurysm": "HP:0031646", + "Saccular aortic arch aneurysm": "HP:0031647", + "Penetrating aortic ulcer": "HP:0031648", + "Aortic rupture": "HP:0031649", + "Abnormal atrioventricular valve physiology": "HP:0031650", + "Abnormal tricuspid valve physiology": "HP:0031651", + "Abnormal aortic valve physiology": "HP:0031652", + "Abnormal heart valve physiology": "HP:0031653", + "Abnormal pulmonary valve physiology": "HP:0031654", + "Quadricuspid aortic valve": "HP:0031655", + "Systolic anterior motion of the mitral valve": "HP:0031656", + "Abnormal heart sound": "HP:0031657", + "Third heart sound": "HP:0031658", + "S3": "HP:0031658", + "Ventricular gallop": "HP:0031658", + "Fourth heart sound": "HP:0031659", + "Atrial gallop": "HP:0031659", + "Presystolic gallop": "HP:0031659", + "S4": "HP:0031659", + "Loud first heart sound": "HP:0031660", + "Abnormal second heart sound": "HP:0031661", + "Fixed splitting of the second heart sound": "HP:0031662", + "Fixed splitting of S2": "HP:0031662", + "Paradoxical splitting of the second heart sound": "HP:0031663", + "Paradoxical splitting of S2": "HP:0031663", + "Reversed splitting of S2": "HP:0031663", + "Reversed splitting of the second heart sound": "HP:0031663", + "Systolic heart murmur": "HP:0031664", + "Midsystolic murmur": "HP:0031665", + "Late systolic murmur": "HP:0031666", + "Holosystolic murmur": "HP:0031667", + "Diastolic heart murmur": "HP:0031668", + "Middiastolic murmur": "HP:0031669", + "Continuous heart murmur": "HP:0031670", + "Typical atrial flutter": "HP:0031671", + "Reverse typical atrial flutter": "HP:0031672", + "Orthodromic atrioventricular reentrant tachycardia": "HP:0031673", + "Orthodromic AVRT": "HP:0031673", + "Antidromic atrioventricular reentrant tachycardia": "HP:0031674", + "Antidromic AVRT": "HP:0031674", + "Fascicular left ventricular tachycardia": "HP:0031675", + "Monomorphic ventricular tachycardia": "HP:0031676", + "Polymorphic ventricular tachycardia": "HP:0031677", + "Atherosclerotic lesion": "HP:0031678", + "Type I atherosclerotic lesion": "HP:0031679", + "Type II atherosclerotic lesion": "HP:0031680", + "Type III atherosclerotic lesion": "HP:0031681", + "Type V atherosclerotic lesion": "HP:0031682", + "Type VI atherosclerotic lesion": "HP:0031683", + "Renal artery atherosclerosis": "HP:0031684", + "Abnormal stool composition": "HP:0031685", + "Abnormal faeces composition": "HP:0031685", + "Abnormal feces composition": "HP:0031685", + "Abnormal faecal test result": "HP:0031685", + "Abnormal fecal test result": "HP:0031685", + "Increased stool alpha1-antitrypsin concentration": "HP:0031686", + "Abnormally loud pulmonic component of the second heart sound": "HP:0031687", + "Accentuation of the pulmonic component of the second heart sound": "HP:0031687", + "Erythroid dysplasia": "HP:0031688", + "Dyserythropoiesis": "HP:0031688", + "Megakaryocyte dysplasia": "HP:0031689", + "Dysmegakaryopoiesis": "HP:0031689", + "Opportunistic infection": "HP:0031690", + "Severe viral infection": "HP:0031691", + "Severe cytomegalovirus infection": "HP:0031692", + "Severe Epstein Barr virus infection": "HP:0031693", + "Fulminant infectious mononucleosis": "HP:0031693", + "Severe EBV infection": "HP:0031693", + "Severe adenovirus infection": "HP:0031694", + "Severe parainfluenza infection": "HP:0031695", + "Disseminated viral infection": "HP:0031696", + "Disseminated infection with live vaccine virus": "HP:0031697", + "obsolete Disseminated Bacillus Calmette-Guerin infection": "HP:0031698", + "Disseminated cryptosporidium infection": "HP:0031699", + "Invasive parasitic infection": "HP:0031700", + "Anterior chamber inflammatory cells": "HP:0031701", + "Anterior chamber red blood cells": "HP:0031702", + "Anterior chamber RBCs": "HP:0031702", + "Abnormal ear morphology": "HP:0031703", + "Abnormal ear physiology": "HP:0031704", + "Compensatory head posture": "HP:0031705", + "Compensatory chin depression": "HP:0031706", + "Compensatory face turn to the right": "HP:0031707", + "Compensatory face turn to the left": "HP:0031708", + "Compensatory head tilt to the right shoulder": "HP:0031709", + "Compensatory head tilt to the left shoulder": "HP:0031710", + "Asymmetric abdominal aortic aneurysm": "HP:0031711", + "Constant exotropia": "HP:0031713", + "Distance exotropia": "HP:0031714", + "Near exotropia": "HP:0031715", + "Cyclic exotropia": "HP:0031716", + "Alternating exotropia": "HP:0031717", + "Alternating strabismus": "HP:0031717", + "Consecutive exotropia": "HP:0031718", + "True distance exotropia": "HP:0031719", + "Simulated distance exotropia": "HP:0031720", + "Sensory exotropia": "HP:0031721", + "Secondary exotropia": "HP:0031721", + "Near esotropia": "HP:0031722", + "Non-accomodative convergence excess esotropia": "HP:0031722", + "Secondary esotropia": "HP:0031723", + "Sensory esotropia": "HP:0031723", + "Microtropia": "HP:0031724", + "Hypophoria": "HP:0031725", + "Incyclotropia": "HP:0031726", + "Excyclotropia": "HP:0031727", + "Mild hypermetropia": "HP:0031728", + "Mild hyperopia": "HP:0031728", + "Moderate hypermetropia": "HP:0031729", + "Moderate hyperopia": "HP:0031729", + "Axial myopia": "HP:0031730", + "Increased tear production": "HP:0031731", + "Increased basal tear production": "HP:0031732", + "Reflex tearing": "HP:0031733", + "Lacrimal pump failure": "HP:0031734", + "Involutional entropion": "HP:0031736", + "Cicatricial entropion": "HP:0031737", + "Mechanical entropion": "HP:0031738", + "Abnormal oblique muscle physiology": "HP:0031739", + "Abnormal horizontal rectus muscle physiology": "HP:0031740", + "Inferior oblique muscle underaction": "HP:0031741", + "Inferior rectus muscle underaction": "HP:0031742", + "Inferior rectus muscle overaction": "HP:0031743", + "Superior rectus muscle weakness": "HP:0031744", + "Superior rectus muscle overaction": "HP:0031745", + "Superior rectus muscle restriction": "HP:0031746", + "Superior rectus muscle underaction": "HP:0031747", + "Abnormal vertical rectus muscle physiology": "HP:0031748", + "Abnormal lateral rectus muscle physiology": "HP:0031749", + "Lateral rectus muscle weakness": "HP:0031750", + "Lateral rectus muscle underaction": "HP:0031751", + "Lateral rectus muscle overaction": "HP:0031752", + "Medial rectus muscle weakness": "HP:0031753", + "Medial rectus muscle overaction": "HP:0031754", + "Abnormal rectus muscle physiology": "HP:0031755", + "Medial rectus muscle underaction": "HP:0031756", + "Medial rectus muscle restriction": "HP:0031757", + "Lateral rectus muscle restriction": "HP:0031758", + "Basic constant esotropia": "HP:0031759", + "Basic (constant) esotropia": "HP:0031759", + "Non-accomodative esotropia": "HP:0031760", + "Infantile constant esotropia": "HP:0031761", + "Infantile (constant) esotropia": "HP:0031761", + "Distance esotropia": "HP:0031762", + "Divergence insufficiency": "HP:0031762", + "Cyclic esotropia": "HP:0031763", + "Fully accomodative esotropia": "HP:0031764", + "Partially accomodative esotropia": "HP:0031765", + "Constant esotropia with an accommodative component": "HP:0031765", + "Constant esotropia with an accommodative element": "HP:0031765", + "Convergence excess esotropia": "HP:0031766", + "Consecutive esotropia": "HP:0031767", + "Parafoveal fixation": "HP:0031768", + "Peripheral fixation": "HP:0031769", + "Epicanthus palpebralis": "HP:0031770", + "Epicanthus tarsalis": "HP:0031771", + "Abnormal posterior circulating artery morphology": "HP:0031772", + "Posterior communicating artery aneurysm": "HP:0031773", + "Posterior communicating artery infundibulum": "HP:0031774", + "Neurogenic strabismus": "HP:0031775", + "Paralytic strabismus": "HP:0031775", + "Cyclotropia": "HP:0031776", + "Cyclophoria": "HP:0031777", + "Incyclophoria": "HP:0031778", + "Excyclophoria": "HP:0031779", + "Eosinophilic ascites": "HP:0031780", + "Microtropia with identity": "HP:0031781", + "Microtropia without identity": "HP:0031782", + "Absent coronary sinus": "HP:0031783", + "Abnormal ascending aorta morphology": "HP:0031784", + "Abnormal eyelid movement": "HP:0031785", + "Cogan lid twitch": "HP:0031786", + "Cogan eyelid twitch": "HP:0031786", + "Eyelid twitch": "HP:0031786", + "Lid twitch": "HP:0031786", + "Oblique astigmatism": "HP:0031787", + "With the rule astigmatism": "HP:0031788", + "Against the rule astigmatism": "HP:0031789", + "Mixed astigmatism": "HP:0031790", + "Lenticular astigmatism": "HP:0031791", + "Irregular astigmatism": "HP:0031792", + "Increased serum leptin": "HP:0031793", + "Elevated circulating leptin level": "HP:0031793", + "Decreased circulating glycerol level": "HP:0031794", + "Abnormal circulating glycerol level": "HP:0031795", + "Recurrent": "HP:0031796", + "Intermittent": "HP:0031796", + "Clinical course": "HP:0031797", + "Natural history of disease": "HP:0031797", + "Elevated circulating apolipoprotein B concentration": "HP:0031798", + "Elevated ApoB level": "HP:0031798", + "Elevated apolipoprotein B level": "HP:0031798", + "Decreased circulating apolipoprotein A-I concentration": "HP:0031799", + "Decreased apo-AI level": "HP:0031799", + "Decreased apoA-I level": "HP:0031799", + "Decreased apolipoprotein AI level": "HP:0031799", + "Elevated circulating apolipoprotein A-II concentration": "HP:0031800", + "Elevated APOAII level": "HP:0031800", + "Elevated Apo-AII level": "HP:0031800", + "Elevated apoA-II level": "HP:0031800", + "Elevated apolipoprotein A-II level": "HP:0031800", + "Vocal cord dysfunction": "HP:0031801", + "Fundus hemorrhage": "HP:0031803", + "Fundus haemorrhage": "HP:0031803", + "Premacular hemorrhage": "HP:0031804", + "Premacular haemorrhage": "HP:0031804", + "Intraretinal hemorrhage": "HP:0031805", + "Intraretinal haemorrhage": "HP:0031805", + "Abnormal basophil count": "HP:0031806", + "Increased basophil count": "HP:0031807", + "Basophilia": "HP:0031807", + "Decreased basophil count": "HP:0031808", + "Archibald's sign": "HP:0031809", + "Archibald's metacarpal sign": "HP:0031809", + "Knuckle dimple": "HP:0031809", + "Anti-ganglioside antibody positivity": "HP:0031810", + "Bilirubinuria": "HP:0031811", + "Nitrituria": "HP:0031812", + "Colonic eosinophilia": "HP:0031813", + "Eosinophilic colitis": "HP:0031813", + "Eosinophilic infiltration in the colon": "HP:0031813", + "Palilalia": "HP:0031814", + "Abnormal oral physiology": "HP:0031815", + "Abnormal oral morphology": "HP:0031816", + "Decreased circulating parathyroid hormone level": "HP:0031817", + "Decreased circulating PTH level": "HP:0031817", + "Decreased serum PTH": "HP:0031817", + "Decreased serum parathyroid hormone": "HP:0031817", + "Decreased serum parathyroid hormone level": "HP:0031817", + "Abnormal waist to hip ratio": "HP:0031818", + "Increased waist to hip ratio": "HP:0031819", + "Increased WHR": "HP:0031819", + "Increased waist-hip ratio": "HP:0031819", + "Increased waist-to-hip ratio": "HP:0031819", + "Decreased waist to hip ratio": "HP:0031820", + "Decreased WHR": "HP:0031820", + "Decreased waist-hip ratio": "HP:0031820", + "Decreased waist-to-hip ratio": "HP:0031820", + "Abnormal hypoxanthine-guanine phosphoribosyltransferase level": "HP:0031821", + "Abnormal 6-hydroxypurine phosphoribosyltransferase level": "HP:0031821", + "Abnormal GMP pyrophosphorylase level": "HP:0031821", + "Abnormal GPRT level": "HP:0031821", + "Elevated hypoxanthine-guanine phosphoribosyltransferase level": "HP:0031822", + "Elevated 6-hydroxypurine phosphoribosyltransferase level": "HP:0031822", + "Elevated 6-mercaptopurine phosphoribosyltransferase level": "HP:0031822", + "Elevated GMP pyrophosphorylase level": "HP:0031822", + "Reduced hypoxanthine-guanine phosphoribosyltransferase level": "HP:0031823", + "Reduced 6-hydroxypurine phosphoribosyltransferase level": "HP:0031823", + "Reduced 6-mercaptopurine phosphoribosyltransferase level": "HP:0031823", + "Reduced GMP pyrophosphorylase level": "HP:0031823", + "Hepatic mastocytosis": "HP:0031824", + "Freezing of gait": "HP:0031825", + "Freezing gait": "HP:0031825", + "Abnormal reflex": "HP:0031826", + "Absent abdominal reflex": "HP:0031827", + "Abdominal reflex absent": "HP:0031827", + "Abnormal superficial reflex": "HP:0031828", + "Absent cremaster reflex": "HP:0031829", + "Absent cremasteric reflex": "HP:0031829", + "Pinguecula": "HP:0031830", + "Decreased serum zinc": "HP:0031831", + "Hypermetric downward saccades": "HP:0031832", + "Hypometric upward saccades": "HP:0031833", + "Aortopulmonary collateral arteries": "HP:0031834", + "Abnormal circulating superoxide dismutase activity": "HP:0031835", + "Abnormal superoxide dismutase level": "HP:0031835", + "Abnormal superoxide:superoxide oxidoreductase activity": "HP:0031835", + "Increased circulating superoxide dismutase concentration": "HP:0031836", + "Increased superoxide dismutase level": "HP:0031836", + "Increased superoxide:superoxide oxidoreductase activity": "HP:0031836", + "Decreased circulating superoxide dismutase concentration": "HP:0031837", + "Decreased superoxide dismutase level": "HP:0031837", + "Decreased superoxide:superoxide oxidoreductase activity": "HP:0031837", + "Presence of xenobiotic": "HP:0031838", + "Urine xenobiotic": "HP:0031840", + "Positive urine methadone test": "HP:0031841", + "Lymphangiectasis": "HP:0031842", + "Lymphangiectasia": "HP:0031842", + "Abnormally slow thought process": "HP:0031843", + "Abnormally slow thought processes": "HP:0031843", + "Bradyphrenia": "HP:0031843", + "Mental slowness": "HP:0031843", + "Slow thought processes": "HP:0031843", + "Slowed thinking": "HP:0031843", + "Slowed thoughts": "HP:0031843", + "Slowness of thought": "HP:0031843", + "Euphoria": "HP:0031844", + "Euphoric mood": "HP:0031844", + "Abnormal libido": "HP:0031845", + "Femur fracture": "HP:0031846", + "Femoral fracture": "HP:0031846", + "Difficulty walking backward": "HP:0031847", + "Cock-walk gait": "HP:0031848", + "Sleep-wake inversion": "HP:0031849", + "Inverted sleep-wake cycle": "HP:0031849", + "Reversed sleep-wake cycle": "HP:0031849", + "Sleep rhythm inversion": "HP:0031849", + "Abnormal hematocrit": "HP:0031850", + "Abnormal Hct": "HP:0031850", + "Reduced hematocrit": "HP:0031851", + "Low hematocrit": "HP:0031851", + "Reduced Hct": "HP:0031851", + "Isomerism": "HP:0031853", + "Left Isomerism": "HP:0031854", + "Left-sided isomerism": "HP:0031854", + "Right isomerism": "HP:0031855", + "Right-sided isomerism": "HP:0031855", + "Hobby horse gait": "HP:0031856", + "Ineffective esophageal peristalsis": "HP:0031857", + "Ineffective esophageal motility": "HP:0031857", + "Esophageal furrows": "HP:0031858", + "Abnormal heart rate variability": "HP:0031860", + "Decreased heart rate variability": "HP:0031861", + "Reduced heart rate variability": "HP:0031861", + "Increased heart rate variability": "HP:0031862", + "Bloodstream infectious agent": "HP:0031863", + "Bacteremia": "HP:0031864", + "Bacteria in blood culture": "HP:0031864", + "Bacteria in blood cultures": "HP:0031864", + "Abnormal liver physiology": "HP:0031865", + "Abnormal hepatic physiology": "HP:0031865", + "Clasp-knife sign": "HP:0031866", + "Neck hypertonia": "HP:0031867", + "Optic ataxia": "HP:0031868", + "Recurrent joint dislocation": "HP:0031869", + "Recurrent joint dislocations": "HP:0031869", + "Phosphohydroxylysinuria": "HP:0031870", + "Abnormal Langerhans cell morphology": "HP:0031871", + "Absent Birbeck granules in Langerhans cells": "HP:0031872", + "Early chronotype": "HP:0031873", + "Advanced sleep onset": "HP:0031873", + "Early sleep onset": "HP:0031873", + "Late chronotype": "HP:0031874", + "Delayed sleep onset": "HP:0031874", + "Late sleep onset": "HP:0031874", + "Abnormal circulating hepcidin concentration": "HP:0031875", + "Abnormal hepcidin level": "HP:0031875", + "Decreased circulating hepcidin concentration": "HP:0031876", + "Decreased hepcidin level": "HP:0031876", + "Elevated circulating hepcidin concentration": "HP:0031877", + "Elevated hepcidin level": "HP:0031877", + "Acromicria": "HP:0031878", + "Abnormal eyelid physiology": "HP:0031879", + "Eyelid laxity": "HP:0031880", + "Lid laxity": "HP:0031880", + "Decreased tear drainage": "HP:0031881", + "Agyria": "HP:0031882", + "Agyria diffuse": "HP:0031882", + "Increased proinsulin:insulin ratio": "HP:0031883", + "Abnormal CSF glucose concentration": "HP:0031884", + "Abnormal CSF glucose level": "HP:0031884", + "Hyperglycorrhachia": "HP:0031885", + "Increased CSF glucose": "HP:0031885", + "Abnormal LDL cholesterol concentration": "HP:0031886", + "Abnormal LDL-C concentration": "HP:0031886", + "Abnormal LDL-C level": "HP:0031886", + "Abnormal LDLc concentration": "HP:0031886", + "Abnormal chylomicron concentration": "HP:0031887", + "Abnormal HDL cholesterol concentration": "HP:0031888", + "Abnormal VLDL cholesterol concentration": "HP:0031889", + "Increased urine urobilinogen": "HP:0031890", + "Decreased eosinophil count": "HP:0031891", + "Rouleaux formation": "HP:0031898", + "Increased rouleaux formation": "HP:0031898", + "Abnormal coagulation factor V activity": "HP:0031899", + "Abnormal factor V activity": "HP:0031899", + "obsolete Abnormal serum tryptase concentration": "HP:0031900", + "Elevated total serum tryptase": "HP:0031901", + "obsolete Decreased serum mast cell beta-tryptase concentration": "HP:0031902", + "Abnormal circulating selenium concentration": "HP:0031903", + "Abnormal serum selenium concentration": "HP:0031903", + "Abnormal total hemolytic complement activity": "HP:0031904", + "Abnormal CH50": "HP:0031904", + "Increased total hemolytic complement activity": "HP:0031905", + "obsolete Decreased total hemolytic complement activity": "HP:0031906", + "Anti-mitochondrial M2 antibody positivity": "HP:0031907", + "AMA-M2 positive": "HP:0031907", + "Anti-pyruvate dehydrogenase antibody positivity": "HP:0031907", + "Micrographia": "HP:0031908", + "Unicornuate uterus": "HP:0031909", + "Abnormal cranial nerve physiology": "HP:0031910", + "Abnormal fifth cranial nerve physiology": "HP:0031911", + "Trigeminal anesthesia": "HP:0031912", + "Trigeminal anaesthesia": "HP:0031912", + "Rhombencephalosynapsis": "HP:0031913", + "Fluctuating": "HP:0031914", + "Stable": "HP:0031915", + "Digital ulcer": "HP:0031917", + "Ovarian sex cord-stromal tumor": "HP:0031918", + "Ovarian sex cord-stromal tumour": "HP:0031918", + "Juvenile type ovarian granulosa cell tumor": "HP:0031919", + "Juvenile type ovarian granulosa cell tumour": "HP:0031919", + "Ovarian juvenile granulosa cell tumor": "HP:0031919", + "Ovarian juvenile granulosa cell tumour": "HP:0031919", + "Malignant ovarian granulosa cell tumor": "HP:0031920", + "Malignant ovarian granulosa cell tumour": "HP:0031920", + "Gastrocnemius myalgia": "HP:0031921", + "Calf muscle pain": "HP:0031921", + "Calf myalgia": "HP:0031921", + "Renal artery duplication": "HP:0031922", + "Accessory renal artery": "HP:0031922", + "Double renal artery": "HP:0031922", + "Hematocolpos": "HP:0031923", + "Haematocolpos": "HP:0031923", + "Rope sign": "HP:0031924", + "Rosette": "HP:0031925", + "Homer Wright rosette": "HP:0031926", + "Flexner-Wintersteiner rosette": "HP:0031927", + "True ependymal rosette": "HP:0031928", + "Perivascular pseudorosette": "HP:0031929", + "Neurocytic rosette": "HP:0031930", + "Pineocytomatous rosette": "HP:0031930", + "Ocular flutter": "HP:0031931", + "Aorto-left ventricular tunnel": "HP:0031932", + "Left ventricle to aorta tunnel": "HP:0031932", + "Aorto-right ventricular tunnel": "HP:0031933", + "Right ventricle to aorta tunnel": "HP:0031933", + "Abnormal descending aorta morphology": "HP:0031934", + "Ascending aorta hypoplasia": "HP:0031935", + "Delayed ability to walk": "HP:0031936", + "Delayed walking": "HP:0031936", + "Tachylalia": "HP:0031937", + "Fast speech": "HP:0031937", + "Tachylogia": "HP:0031937", + "Abnormal conus terminalis morphology": "HP:0031938", + "Abnormal conus medullaris morphology": "HP:0031938", + "Conus terminalis arteriovenous malformation": "HP:0031939", + "Abnormal portal venous system morphology": "HP:0031941", + "Congenital absence of portal vein": "HP:0031942", + "CAPV": "HP:0031942", + "Missing portal vein": "HP:0031942", + "Akathisia": "HP:0031943", + "Pleural thickening": "HP:0031944", + "Pleural incrassation": "HP:0031944", + "Elevated circulating N,N-dimethylglycine concentration": "HP:0031945", + "Elevated N,N-dimethylglycine level": "HP:0031945", + "Elevated urinary N,N-dimethylglycine level": "HP:0031946", + "Tongue tremor": "HP:0031947", + "Jerky movements of the tongue": "HP:0031947", + "Snowball lesion of corpus callosum": "HP:0031948", + "Recurrent bacterial upper respiratory tract infections": "HP:0031949", + "Recurrent bacterial URI": "HP:0031949", + "Usual interstitial pneumonia": "HP:0031950", + "Nocturnal seizures": "HP:0031951", + "Sleep seizures": "HP:0031951", + "Neurogenic claudication": "HP:0031952", + "Cautious gait": "HP:0031953", + "Senile gait": "HP:0031953", + "Dystonic gait": "HP:0031954", + "Antalgic gait": "HP:0031955", + "Limp": "HP:0031955", + "Elevated circulating aspartate aminotransferase concentration": "HP:0031956", + "Aspartate aminotransferase increased": "HP:0031956", + "Elevated serum AST": "HP:0031956", + "Elevated serum aspartate aminotransferase": "HP:0031956", + "Elevated serum glutamic oxaloacetic transaminase": "HP:0031956", + "Spastic hemiparetic gait": "HP:0031957", + "Wernicke-Mann gait": "HP:0031957", + "Spastic paraparetic gait": "HP:0031958", + "Leg dystonia": "HP:0031959", + "Arm dystonia": "HP:0031960", + "Abnormal serum anion gap": "HP:0031961", + "Elevated serum anion gap": "HP:0031962", + "Decreased serum anion gap": "HP:0031963", + "Elevated circulating alanine aminotransferase concentration": "HP:0031964", + "Alanine aminotransferase increased": "HP:0031964", + "Elevated serum ALT": "HP:0031964", + "Elevated serum alanine aminotransferase": "HP:0031964", + "Elevated serum glutamic-pyruvic transaminase": "HP:0031964", + "Increased RBC distribution width": "HP:0031965", + "Increased red blood cell distribution width": "HP:0031965", + "Cloudy urine": "HP:0031967", + "Turbid urine": "HP:0031967", + "Reduced blood urea nitrogen": "HP:0031969", + "Reduced BUN": "HP:0031969", + "Abnormal blood urea nitrogen concentration": "HP:0031970", + "Abnormal BUN concentration": "HP:0031970", + "Subaortic ventricular septal bulge": "HP:0031971", + "Presyncope": "HP:0031972", + "Increased vertical cup-to-disc ratio": "HP:0031973", + "Increased vertical cup-to-disc ratio - 0.6": "HP:0031974", + "Increased vertical cup-to-disc ratio - 0.7": "HP:0031975", + "Increased vertical cup-to-disc ratio - 0.8": "HP:0031976", + "Increased vertical cup-to-disc ratio - 0.9": "HP:0031977", + "Increased vertical cup-to-disc ratio - 1.0": "HP:0031978", + "Abnormal urine carbohydrate level": "HP:0031979", + "Abnormal urine carboxylic acid level": "HP:0031980", + "Elevated urine glycolate": "HP:0031981", + "Abnormal putamen morphology": "HP:0031982", + "Abnormal pulmonary thoracic imaging finding": "HP:0031983", + "Abnormal chest radiograph finding (lung)": "HP:0031983", + "Esophageal food impaction": "HP:0031984", + "Esophageal exudate": "HP:0031985", + "Polyminimyoclonus": "HP:0031986", + "Minipolymyoclonus": "HP:0031986", + "Facial-faucial-finger minimyoclonus": "HP:0031986", + "Diminished ability to concentrate": "HP:0031987", + "Concentration problems": "HP:0031987", + "Labored thinking": "HP:0031987", + "Lack of concentration": "HP:0031987", + "Poor concentration": "HP:0031987", + "obsolete Muscle spasm": "HP:0031988", + "Perioral spasm": "HP:0031989", + "Chvostek sign": "HP:0031990", + "Increased urinary excretion of galactosyl hydroxylysine": "HP:0031991", + "Apical hypertrophic cardiomyopathy": "HP:0031992", + "Hoffmann sign": "HP:0031993", + "Hoffmann's sign": "HP:0031993", + "Bronchial breath sound": "HP:0031994", + "Squawks": "HP:0031995", + "Inspiratory crackles": "HP:0031996", + "Early inspiratory crackles": "HP:0031997", + "Late inspiratory crackles": "HP:0031998", + "Expiratory crackles": "HP:0031999", + "Pleural rub": "HP:0032000", + "Pink urine": "HP:0032001", + "Orange urine": "HP:0032002", + "Green urine": "HP:0032003", + "Pruritus vulvae": "HP:0032004", + "Hemidystonia": "HP:0032005", + "Lip tremor": "HP:0032006", + "Maceration": "HP:0032007", + "Maceration of the skin": "HP:0032007", + "Skin maceration": "HP:0032007", + "Pulmonary fat embolism": "HP:0032008", + "Fat embolism": "HP:0032008", + "Infantile constant exotropia": "HP:0032009", + "Infantile (constant) exotropia": "HP:0032009", + "Basic constant exotropia": "HP:0032010", + "Basic (constant) exotropia": "HP:0032010", + "Heterophoria": "HP:0032011", + "Heterotropia": "HP:0032012", + "Hypermetric horizontal saccades": "HP:0032013", + "Dysmetric vertical saccades": "HP:0032014", + "Dysmetric horizontal saccades": "HP:0032015", + "Abnormal sputum": "HP:0032016", + "Abnormal sputum morphology": "HP:0032016", + "Sputum eosinophilia": "HP:0032017", + "Multiple mononeuropathy": "HP:0032018", + "Mononeuritis multiplex": "HP:0032018", + "Muscle eosinophilia": "HP:0032019", + "Eosinophilic infiltration of skeletal muscle": "HP:0032019", + "Eosinophilic bladder infiltration": "HP:0032020", + "Eosinophilic cystitis": "HP:0032020", + "Eosinophilic liver infiltration": "HP:0032021", + "Eosinophilic hepatitis": "HP:0032021", + "Eosinophilic dermal infiltration": "HP:0032022", + "Eosinophilic dermatitis": "HP:0032022", + "Eosinophilic gallbladder infiltration": "HP:0032023", + "Eosinophilic cholecystitis": "HP:0032023", + "Ileal ulcer": "HP:0032024", + "Reduced circulating alpha-1-antitrypsin concentration": "HP:0032025", + "Reduced serum alpha-1-antitrypsin": "HP:0032025", + "Anetoderma": "HP:0032026", + "Retinal dots": "HP:0032027", + "Macular dots": "HP:0032028", + "Floppy eyelid": "HP:0032029", + "Lateral canthal tendon laxity": "HP:0032030", + "Medial canthal tendon laxity": "HP:0032031", + "Horizontal eyelid laxity": "HP:0032032", + "Vertical eyelid laxity": "HP:0032033", + "Upper eyelid laxity": "HP:0032034", + "Lower eyelid laxity": "HP:0032035", + "Reduced contrast sensitivity": "HP:0032036", + "Abnormal contrast sensitivity": "HP:0032036", + "Mildly reduced visual acuity": "HP:0032037", + "Mild reduction in visual acuity": "HP:0032037", + "Mild vision loss": "HP:0032037", + "Mild visual loss": "HP:0032037", + "Abnormality of the ocular adnexa": "HP:0032039", + "Abnormal ocular adnexa physiology": "HP:0032040", + "Vocal cord polyp": "HP:0032041", + "Odynophagia": "HP:0032043", + "Painful swallowing": "HP:0032043", + "Decreased vigilance": "HP:0032044", + "Decreased alertness": "HP:0032044", + "Hypoplastic carotid canal": "HP:0032045", + "Focal cortical dysplasia": "HP:0032046", + "Focal cortical dysplasia type I": "HP:0032047", + "Focal cortical dysplasia type Ia": "HP:0032048", + "Focal cortical dysplasia type Ib": "HP:0032049", + "Focal cortical dysplasia type Ic": "HP:0032050", + "Focal cortical dysplasia type II": "HP:0032051", + "Focal cortical dysplasia type IIa": "HP:0032052", + "Focal cortical dysplasia type IIb": "HP:0032053", + "Focal cortical dysplasia type III": "HP:0032054", + "Focal cortical dysplasia type IIIa": "HP:0032055", + "Focal cortical dysplasia type IIIb": "HP:0032056", + "Focal cortical dysplasia type IIIc": "HP:0032057", + "Focal cortical dysplasia type IIId": "HP:0032058", + "Mild malformation of cortical development": "HP:0032059", + "Epithelioid hemangioma": "HP:0032060", + "Angiolymphoid hyperplasia with eosinophilia": "HP:0032060", + "Hypereosinophilia": "HP:0032061", + "Mallory-Weiss tear": "HP:0032062", + "Ankle joint effusion": "HP:0032063", + "Gastrointestinal eosinophilia": "HP:0032064", + "Eosinophilic enteritis": "HP:0032064", + "Eosinophilic gastroenteritis": "HP:0032064", + "GI eosinophilia": "HP:0032064", + "Eosinophilic gastrointestinal disease": "HP:0032064", + "Eosinophilic gastrointestinal disorders": "HP:0032064", + "Abnormal serum bicarbonate concentration": "HP:0032065", + "Abnormal serum HCO3 concentration": "HP:0032065", + "Decreased serum bicarbonate concentration": "HP:0032066", + "Decreased serum HCO3 concentration": "HP:0032066", + "Elevated serum bicarbonate concentration": "HP:0032067", + "Elevated serum HCO3 concentration": "HP:0032067", + "Increased urinary mucus": "HP:0032068", + "Anti-thyroglobulin antibody positivity": "HP:0032069", + "Anti-thyroid globulin antibody positivity": "HP:0032069", + "TgAbs": "HP:0032069", + "Leptomeningeal enhancement": "HP:0032070", + "Eosinophilic pneumonia": "HP:0032071", + "Eosinophilic pulmonary infiltration": "HP:0032071", + "Pulmonary eosinophilic infiltrate": "HP:0032071", + "Pulmonary eosinophilic infiltration": "HP:0032071", + "Pulmonary eosinophilia": "HP:0032071", + "Popliteal synovial cyst": "HP:0032072", + "Baker's cyst": "HP:0032072", + "Aplasia of the fallopian tube": "HP:0032073", + "Splenopancreatic fusion": "HP:0032075", + "Abnormal male urethral meatus morphology": "HP:0032076", + "Male urethral meatus stenosis": "HP:0032077", + "Meatal stenosis": "HP:0032077", + "Meatus stenosis": "HP:0032077", + "Angel-shaped phalanx": "HP:0032078", + "Medial degeneration": "HP:0032079", + "Intralamellar mucoid extracellular matrix accumulation": "HP:0032081", + "Translamellar mucoid extracellular matrix accumulation": "HP:0032082", + "Aortic elastic fiber fragmentation": "HP:0032083", + "Aortic elastic fibre fragmentation": "HP:0032083", + "Aortic elastic fiber thinning": "HP:0032084", + "Aortic elastic fibre thinning": "HP:0032084", + "Aortic elastic fiber disorganization": "HP:0032085", + "Aortic elastic fibre disorganisation": "HP:0032085", + "Aortic smooth muscle cell nuclei loss": "HP:0032086", + "Aortic laminar medial collapse": "HP:0032087", + "Aortic smooth muscle cell disorganization": "HP:0032088", + "Aortic smooth muscle cell disorganisation": "HP:0032088", + "Aortic medial fibrosis": "HP:0032089", + "Intralamellar aortic medial fibrosis": "HP:0032090", + "Translamellar aortic medial fibrosis": "HP:0032091", + "Left ventricular outflow tract obstruction": "HP:0032092", + "Increased circulating surfactant protein level": "HP:0032094", + "Increased serum surfactant protein level": "HP:0032094", + "Abnormal manganese concentration": "HP:0032096", + "Hypermanganesemia": "HP:0032097", + "Increased blood manganese concentration": "HP:0032097", + "Hypomanganesemia": "HP:0032098", + "Perioral radial furrowing": "HP:0032099", + "Abnormal doll's eye reflex": "HP:0032100", + "Unusual infection": "HP:0032101", + "Wilson sign": "HP:0032102", + "Saccadic oscillation": "HP:0032104", + "Saccadic oscillations": "HP:0032104", + "Macrosaccadic oscillations": "HP:0032105", + "Macrosaccadic oscillation": "HP:0032105", + "Conjunctival icterus": "HP:0032106", + "Scleral icterus": "HP:0032106", + "Yellow conjunctiva": "HP:0032106", + "Yellow sclera": "HP:0032106", + "Yellowing of the whites of the eyes": "HP:0032106", + "Limbal stem cell deficiency": "HP:0032107", + "Mildly reduced contrast sensitivity": "HP:0032108", + "Mild reduction in contrast sensitivity": "HP:0032108", + "Moderately reduced contrast sensitivity": "HP:0032109", + "Moderate reduction in contrast sensitivity": "HP:0032109", + "Severely reduced contrast sensitivity": "HP:0032110", + "Abnormal Vistech contrast sensitivity test": "HP:0032111", + "Abnormal Pelli Robson contrast sensitivity chart test": "HP:0032112", + "Semidominant inheritance": "HP:0032113", + "Semidominant mode of inheritance": "HP:0032113", + "Saccadic intrusion": "HP:0032114", + "Macrosquare-wave jerks": "HP:0032116", + "obsolete Macrosaccadic oscillation": "HP:0032117", + "Retinitis": "HP:0032118", + "obsolete Narrow angle glaucoma": "HP:0032119", + "Abnormal peripheral nervous system physiology": "HP:0032120", + "Froment sign": "HP:0032121", + "Froment thumb sign": "HP:0032121", + "Very low visual acuity": "HP:0032122", + "Ultra-low vision": "HP:0032123", + "Abnormal proportion of unswitched memory B cells": "HP:0032124", + "Abnormal proportion of non-class-switched memory B cells": "HP:0032124", + "Increased proportion of unswitched memory B cells": "HP:0032125", + "Elevated proportion of unswitched memory B cells": "HP:0032125", + "Increased proportion of non-class-switched memory B cells": "HP:0032125", + "Decreased proportion of unswitched memory B cells": "HP:0032126", + "Decreased proportion of non-class-switched memory B cells": "HP:0032126", + "Reduced proportion of unswitched memory B cells": "HP:0032126", + "Abnormal plasmablast proportion": "HP:0032127", + "Increased proportion of plasmablasts": "HP:0032128", + "Decreased proportion of plasmablasts": "HP:0032129", + "Mycobacterium abscessus abscessus infection": "HP:0032130", + "Cervical dysplasia": "HP:0032131", + "Uterine cervix dysplasia": "HP:0032131", + "Decreased circulating total IgG concentration": "HP:0032132", + "Decreased circulating total IgG": "HP:0032132", + "Transient decreased circulating total IgG": "HP:0032133", + "Chronic decreased circulating total IgG": "HP:0032134", + "Chronic decreased total IgG in blood": "HP:0032134", + "Decreased circulating IgG subclass concentration": "HP:0032135", + "Decreased IgG subclass level in blood": "HP:0032135", + "Decreased circulating IgG subclass level": "HP:0032135", + "Decreased circulating IgG1 concentration": "HP:0032136", + "Decreased IgG1 level in blood": "HP:0032136", + "Decreased circulating IgG1 level": "HP:0032136", + "Decreased circulating IgG3 concentration": "HP:0032137", + "Decreased IgG3 level in blood": "HP:0032137", + "Decreased circulating IgG3 level": "HP:0032137", + "Decreased circulating IgG4 concentration": "HP:0032138", + "Decreased IgG4 level in blood": "HP:0032138", + "Decreased circulating IgG4 level": "HP:0032138", + "Reduced isohemagglutinin level": "HP:0032139", + "Decreased natural antibody to blood group agents": "HP:0032139", + "Partial absence of isohemagglutinins": "HP:0032139", + "Decreased specific antibody response to vaccination": "HP:0032140", + "Precordial pain": "HP:0032141", + "Fetor hepaticus": "HP:0032142", + "Foetor hepaticus": "HP:0032142", + "Burning mouth": "HP:0032143", + "Coffee ground vomitus": "HP:0032144", + "Coffee grounds emesis": "HP:0032144", + "Coffee grounds vomiting": "HP:0032144", + "Sural nerve atrophy": "HP:0032145", + "Atrophy of sural nerve": "HP:0032145", + "HbC hemoglobin": "HP:0032146", + "Haemoglobin C": "HP:0032146", + "HbC haemoglobin": "HP:0032146", + "Hemoglobin C": "HP:0032146", + "Erythromelalgia": "HP:0032147", + "Episodic pain": "HP:0032148", + "Breakthrough pain": "HP:0032149", + "Paroxysmal rectal pain": "HP:0032150", + "Episodic eosinophilia": "HP:0032151", + "Keratosis pilaris": "HP:0032152", + "Carpet tack sign": "HP:0032152", + "Chicken skin": "HP:0032152", + "Follicular keratosis": "HP:0032152", + "Follicular keratotic plug": "HP:0032152", + "Follicular plugging": "HP:0032152", + "Hyperkeratosis pilaris": "HP:0032152", + "Lichen pilaris": "HP:0032152", + "Joint subluxation": "HP:0032153", + "Aphthous ulcer": "HP:0032154", + "Canker sore": "HP:0032154", + "Abdominal cramps": "HP:0032155", + "Skin detachment": "HP:0032156", + "Detached skin": "HP:0032156", + "Epidermal detachment": "HP:0032156", + "Skin sloughing": "HP:0032156", + "Recurrent genital herpes": "HP:0032157", + "Unusual infection by anatomical site": "HP:0032158", + "Fungal meningitis": "HP:0032159", + "Cryptococcal meningitis": "HP:0032160", + "Coccidioidal meningitis": "HP:0032161", + "Unusual skin infection": "HP:0032162", + "Molluscum contagiosum": "HP:0032163", + "Increased blood folate concentration": "HP:0032164", + "Placental mesenchymal dysplasia": "HP:0032165", + "Unusual gastrointestinal infection": "HP:0032166", + "Unusual GI infection": "HP:0032166", + "Clostridium difficile enteritis": "HP:0032167", + "C. difficile enteritis": "HP:0032167", + "Clostridium difficile colitis": "HP:0032168", + "Severe infection": "HP:0032169", + "Unusual course of infection": "HP:0032169", + "Severe varicella zoster infection": "HP:0032170", + "Bladder pain": "HP:0032171", + "Air crescent sign": "HP:0032172", + "Continuous diaphragm sign": "HP:0032173", + "Tree-in-bud pattern": "HP:0032174", + "Signet ring sign": "HP:0032175", + "Apical pulmonary opacity": "HP:0032176", + "Apical cap": "HP:0032176", + "Apical pleural thickening": "HP:0032176", + "Parenchymal consolidation": "HP:0032177", + "Flaky paint dermatosis": "HP:0032178", + "Flaky paint skin appearance": "HP:0032178", + "Abnormal circulating globulin concentration": "HP:0032179", + "Abnormal circulating globulin level": "HP:0032179", + "Abnormal circulating metabolite concentration": "HP:0032180", + "Anomalous hepatic venous drainage into the left atrium": "HP:0032181", + "Abnormal proportion of memory T cells": "HP:0032182", + "Abnormal proportion of CD4+CD29+ cells": "HP:0032182", + "Decreased proportion of memory T cells": "HP:0032183", + "Decreased proportion of CD4+CD29+ cells": "HP:0032183", + "Increased proportion of memory T cells": "HP:0032184", + "Increased proportion of CD4+CD29+ cells": "HP:0032184", + "Disseminated molluscum contagiosum": "HP:0032185", + "Anal neoplasm": "HP:0032186", + "Anal intraepithelial neoplasia": "HP:0032187", + "Cellular hypersensitivity to mitomycin C": "HP:0032188", + "Cellular hypersensitivity to diepoxybutane": "HP:0032189", + "Abnormal meniscus morphology": "HP:0032190", + "Torn meniscus": "HP:0032191", + "Hydatidiform mole": "HP:0032192", + "Decreased low-density lipoprotein particle size": "HP:0032193", + "Abnormal S wave": "HP:0032195", + "Prominent S wave in lead I": "HP:0032196", + "Deep S wave in lead V5": "HP:0032197", + "Decreased prothrombin time": "HP:0032198", + "Decreased INR": "HP:0032198", + "Decreased PT": "HP:0032198", + "Decreased international normalised ratio": "HP:0032198", + "Decreased international normalized ratio": "HP:0032198", + "Abnormal prothrombin time": "HP:0032199", + "Abnormal PT": "HP:0032199", + "Perivascular fibrosis": "HP:0032200", + "Rotator cuff tear": "HP:0032201", + "Vulvar intraepithelial neoplasia": "HP:0032202", + "Lymphoid nodular hyperplasia": "HP:0032203", + "Lymphonodular hyperplasia of the colon": "HP:0032203", + "Chronic active Epstein-Barr virus infection": "HP:0032204", + "Increased circulating galectin-3 level": "HP:0032205", + "obsolete Abnormal cerebrospinal fluid metabolite concentration": "HP:0032207", + "Increased urinary type 1 collagen N-terminal telopeptide level": "HP:0032208", + "Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine": "HP:0032208", + "Increased urine NTx level": "HP:0032208", + "Abnormal circulating free T3 concentration": "HP:0032209", + "Abnormal circulating free T3 level": "HP:0032209", + "Abnormal circulating free triiodotyronine concentration": "HP:0032209", + "Decreased circulating free T3": "HP:0032210", + "Decreased circulating free triiodothyronine": "HP:0032210", + "Increased urinary epithelial cell count": "HP:0032211", + "Increased urinary squamous epithelial cell count": "HP:0032212", + "Increased urinary renal tubular epithelial cell count": "HP:0032213", + "Increased urinary transitional epithelial cell count": "HP:0032214", + "Disseminated cutaneous warts": "HP:0032215", + "Lymphocytic infiltration of the colorectal mucosa": "HP:0032216", + "Indurated nodule": "HP:0032217", + "Decreased proportion of CD4-positive T cells": "HP:0032218", + "Decreased proportion of CD4+ cells": "HP:0032218", + "Decreased proportion of CD4-positive, alpha-beta T cells": "HP:0032218", + "Reduced proportion of CD4-positive cells": "HP:0032218", + "Increased proportion of CD4-positive T cells": "HP:0032219", + "Elevated proportion of CD4-positive T cells": "HP:0032219", + "Increased proportion of CD4+ T cells": "HP:0032219", + "Increased proportion of CD4-positive, alpha-beta T cells": "HP:0032219", + "Interface hepatitis": "HP:0032220", + "Periportal emperipolesis": "HP:0032221", + "Serrated intestinal polyps": "HP:0032222", + "Serrated polyposis": "HP:0032222", + "Blood group": "HP:0032223", + "ABO blood group": "HP:0032224", + "Perifollicular fibroma": "HP:0032225", + "Abnormal sebaceous gland morphology": "HP:0032226", + "Sebaceous hyperplasia": "HP:0032227", + "Trichodiscoma": "HP:0032228", + "Perinuclear antineutrophil antibody positivity": "HP:0032229", + "p-ANCA positivity": "HP:0032229", + "Cytoplasmic antineutrophil antibody positivity": "HP:0032230", + "Anti-neutrophil cytoplasmic antibody positivity": "HP:0032230", + "C-ANCA antibodies": "HP:0032230", + "Cytoplasmic antineutrophil cytoplasmic antibodies": "HP:0032230", + "Hypochromia": "HP:0032231", + "Increased circulating creatine kinase MB isoform": "HP:0032232", + "Increased circulating CK MB isoform": "HP:0032232", + "Increased circulating creatine kinase BB isoform": "HP:0032233", + "Increased circulating CK BB isoform": "HP:0032233", + "Increased circulating creatine kinase MM isoform": "HP:0032234", + "Increased circulating CK MM isoform": "HP:0032234", + "Anti-La/SS-B antibody positivity": "HP:0032235", + "Increased circulating immature neutrophil count": "HP:0032236", + "Increased circulating myelocyte count": "HP:0032237", + "Increased circulating metamyelocyte count": "HP:0032238", + "Increased circulating band cell count": "HP:0032239", + "Increased circulating band form neutrophils": "HP:0032239", + "Left shift": "HP:0032239", + "Elevated circulating E selectin level": "HP:0032240", + "Cervical neoplasm": "HP:0032241", + "Cervical intraepithelial neoplasia": "HP:0032242", + "Abnormal tissue metabolite concentration": "HP:0032243", + "Decreased serum thromboxane B2": "HP:0032244", + "Abnormal metabolism": "HP:0032245", + "Persistent CMV viremia": "HP:0032247", + "Persistent viremia": "HP:0032248", + "Coccidioidomycosis": "HP:0032249", + "Valley fever": "HP:0032249", + "Acinetobacter infection": "HP:0032250", + "Abnormal immune system morphology": "HP:0032251", + "Granuloma": "HP:0032252", + "Eosinophilic granuloma": "HP:0032253", + "Increased circulating copper concentration": "HP:0032254", + "Elevated serum copper": "HP:0032254", + "Hypercupremia": "HP:0032254", + "Opportunistic fungal infection": "HP:0032255", + "Histoplasmosis": "HP:0032256", + "Disseminated histoplasmosis": "HP:0032257", + "Pulmonary histoplasmosis": "HP:0032258", + "Chronic tinea infection": "HP:0032259", + "Opportunistic bacterial infection": "HP:0032260", + "Nontuberculous mycobacterial pulmonary infection": "HP:0032261", + "Pulmonary tuberculosis": "HP:0032262", + "Pulmonary TB": "HP:0032262", + "Increased blood pressure": "HP:0032263", + "Increased BP": "HP:0032263", + "Anti-NMDA receptor antibody positivity": "HP:0032264", + "Presence of anti-N-methyl-D-aspartate Receptor antibody in blood": "HP:0032264", + "Presence of anti-NMDAR antibody in blood": "HP:0032264", + "CSF autoimmune antibody positivity": "HP:0032265", + "Cerebrospinal fluid autoimmune antibody positivity": "HP:0032265", + "CSF anti-NMDA receptor antibody positivity": "HP:0032266", + "Presence of NMDAR antibody in CSF": "HP:0032266", + "Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF": "HP:0032266", + "Presence of anti-NMDAR antibody in cerebrospinal fluid": "HP:0032266", + "Empty delta sign": "HP:0032267", + "Dural tail sign": "HP:0032268", + "Lemon sign": "HP:0032269", + "Optic nerve tram-track sign": "HP:0032270", + "Extrapulmonary tuberculosis": "HP:0032271", + "Extrapulmonary TB": "HP:0032271", + "obsolete Elevated urinary N-acetylaspartic acid level": "HP:0032272", + "Increased circulating N-acetylaspartic acid concentration": "HP:0032273", + "Increased circulating N-acetyl aspartate level": "HP:0032273", + "Increased circulating N-acetyl aspartic acid level": "HP:0032273", + "Increased circulating N-acetyl-L-aspartic acid level": "HP:0032273", + "Increased circulating N-acetylaspartate level": "HP:0032273", + "Increased circulating NAA level": "HP:0032273", + "Increased CSF N-acetylaspartic acid concentration": "HP:0032274", + "Increased N-acetyl aspartate levels in CSF": "HP:0032274", + "Increased N-acetyl aspartic acid levels in CSF": "HP:0032274", + "Increased N-acetyl-L-aspartic acid levels in CSF": "HP:0032274", + "Increased N-acetylaspartate levels in CSF": "HP:0032274", + "Increased NAA levels in CSF": "HP:0032274", + "Recurrent shingles": "HP:0032275", + "Prominent subcalcaneal fat pad": "HP:0032276", + "Lozenge-shaped umbilicus": "HP:0032277", + "2-hydroxyglutarate aciduria": "HP:0032278", + "Abnormal base excess": "HP:0032281", + "Contact dermatitis": "HP:0032282", + "Disseminated nontuberculous mycobacterial infection": "HP:0032283", + "Ultra-low vision with retained motion projection": "HP:0032284", + "Ultra-low vision with retained light projection": "HP:0032285", + "Ultra-low vision with retained light perception": "HP:0032286", + "Ultra-low vision with no light perception": "HP:0032287", + "Polyclonal elevation of circulating IgG": "HP:0032288", + "Oligoclonal elevation of circulating IgG": "HP:0032289", + "Monoclonal elevation of IgG": "HP:0032290", + "Monoclonal elevation of intact IgG": "HP:0032291", + "Monoclonal elevation of IgG light chain": "HP:0032292", + "Monoclonal elevation of IgG heavy chain": "HP:0032293", + "Monoclonal elevation of IgG kappa chain": "HP:0032294", + "Monoclonal elevation of IgG lambda chain": "HP:0032295", + "Increased circulating IgG subclass": "HP:0032296", + "Increased circulating IgG3 level": "HP:0032297", + "Increased circulating IgG1 level": "HP:0032298", + "Increased circulating IgG2 level": "HP:0032299", + "Increased circulating IgG4 level": "HP:0032300", + "Genital warts": "HP:0032301", + "Kappa Bence Jones proteinuria": "HP:0032302", + "Lambda Bence Jones proteinuria": "HP:0032303", + "Abnormal circulating mannose-binding protein concentration": "HP:0032304", + "Decreased circulating mannose-binding protein concentration": "HP:0032305", + "Decreased mannose-binding protein level": "HP:0032305", + "Increased circulating mannose-binding protein concentration": "HP:0032306", + "Increased mannose-binding protein level": "HP:0032306", + "Increased circulating procalcitonin concentration": "HP:0032308", + "Increased circulating procalcitonin level": "HP:0032308", + "Abnormal granulocyte count": "HP:0032309", + "Granulocytosis": "HP:0032310", + "Increased circulating globulin level": "HP:0032311", + "Decreased circulating globulin level": "HP:0032312", + "Frontotemporal hypertrichosis": "HP:0032313", + "Abnormal areolar morphology": "HP:0032314", + "Areolar fullness": "HP:0032315", + "Family history": "HP:0032316", + "Family history of cancer": "HP:0032317", + "Family history of heart disease": "HP:0032318", + "Health status": "HP:0032319", + "Affected": "HP:0032320", + "Unaffected": "HP:0032321", + "Healthy": "HP:0032322", + "Periodic fever": "HP:0032323", + "Non-periodic recurrent fever": "HP:0032324", + "Lacunar stroke": "HP:0032325", + "Methicillin-resistant Staphylococcus aureus infection": "HP:0032326", + "MRSA infection": "HP:0032326", + "Interhemispheric cyst": "HP:0032327", + "Temporomandibular joint adhesion": "HP:0032328", + "Increased urinary 11-deoxycortisol level": "HP:0032329", + "Increased urinary 11-deoxycorticosterone level": "HP:0032330", + "Increased urinary 11-deoxytetrahydrocorticosterone level": "HP:0032331", + "Oligoclonal elevation of circulating IgM": "HP:0032332", + "Polyclonal elevation of circulating IgA": "HP:0032333", + "Oligoclonal elevation of circulating IgA": "HP:0032334", + "Monoclonal elevation of circulating IgA": "HP:0032335", + "Increased circulating specific IgE antibody concentration": "HP:0032336", + "Increased circulating specific IgE antibody": "HP:0032336", + "Monoclonal elevated circulating IgE concentration": "HP:0032337", + "Monoclonal elevation of circulating IgE": "HP:0032337", + "Oligoclonal elevated circulating IgE concentration": "HP:0032338", + "Oligoclonal elevation of circulating IgE": "HP:0032338", + "Polyclonal elevated circulating IgE concentration": "HP:0032339", + "obsolete Abnormal spirometry test": "HP:0032340", + "Reduced forced vital capacity": "HP:0032341", + "Decreased forced vital capacity": "HP:0032341", + "Reduced FVC": "HP:0032341", + "Reduced forced expiratory volume in one second": "HP:0032342", + "Reduced FEV1": "HP:0032342", + "Upslanting toenail": "HP:0032344", + "Ski-jump toenail": "HP:0032344", + "Upturned toenail": "HP:0032344", + "Elevated cancer Ag 19-9 level": "HP:0032345", + "Cutaneous lichen amyloidosis": "HP:0032346", + "Cutaneous macular amyloidosis": "HP:0032347", + "Macular amyloidosis": "HP:0032347", + "Cutaneous nodular amyloidosis": "HP:0032348", + "Serinuria": "HP:0032349", + "Sulfocysteinuria": "HP:0032350", + "Phenylalaninuria": "HP:0032351", + "Increased level of phenylalanine in urine": "HP:0032351", + "Methioninuria": "HP:0032352", + "Methionine high in urine": "HP:0032352", + "Leucinuria": "HP:0032353", + "Decreased peak expiratory flow": "HP:0032355", + "Decreased pre-bronchodilator forced vital capacity": "HP:0032356", + "Decreased pre bronchodilator forced vital capacity": "HP:0032356", + "Decreased prebronchodilator forced vital capacity": "HP:0032356", + "Decreased post-bronchodilator forced vital capacity": "HP:0032357", + "Decreased post bronchodilator forced vital capacity": "HP:0032357", + "Decreased postbronchodilator forced vital capacity": "HP:0032357", + "Decreased post-bronchodilator forced expiratory volume in one second": "HP:0032358", + "Decreased post bronchodilator forced expiratory volume in one second": "HP:0032358", + "Decreased postbronchodilator forced expiratory volume in one second": "HP:0032358", + "Decreased forced expiratory flow 25-75%": "HP:0032359", + "Decreased FEF25-75%": "HP:0032359", + "Decreased pre-bronchodilator forced expiratory flow 25-75%": "HP:0032360", + "Decreased pre bronchodilator forced expiratory flow 25-75%": "HP:0032360", + "Decreased pre-bronchodilator FEF25-75%": "HP:0032360", + "Decreased prebronchodilator forced expiratory flow 25-75%": "HP:0032360", + "Decreased post-bronchodilator forced expiratory flow 25-75%": "HP:0032361", + "Decreased post bronchodilator forced expiratory flow 25-75%": "HP:0032361", + "Decreased post-bronchodilator FEF25-75%": "HP:0032361", + "Decreased postbronchodilator forced expiratory flow 25-75%": "HP:0032361", + "Increased circulating corticosterone level": "HP:0032362", + "Decreased circulating corticosterone level": "HP:0032363", + "obsolete Abnormal CSF amino acid level": "HP:0032364", + "Exacerbated by aspirin exposure": "HP:0032365", + "Positive direct antiglobulin test": "HP:0032366", + "Abnormal growth hormone level": "HP:0032367", + "Abnormal somatotropin level": "HP:0032367", + "Acidemia": "HP:0032368", + "Alkalemia": "HP:0032369", + "Blood group A": "HP:0032370", + "Isoleucinuria": "HP:0032371", + "Hyperisoleucinuria": "HP:0032371", + "Isoleucine high in urine": "HP:0032371", + "Increased peripheral blast count": "HP:0032372", + "Elevated blast count": "HP:0032372", + "Elevated circulating blasts": "HP:0032372", + "Increased peripheral myeloblast count": "HP:0032372", + "Duffy blood group": "HP:0032373", + "Duffy Fya positivity": "HP:0032374", + "Duffy Fyb positivity": "HP:0032375", + "Anti-beta 2 glycoprotein I antibody positivity": "HP:0032376", + "Anti-B2GPI positivity": "HP:0032376", + "Increased urinary orosomucoid": "HP:0032377", + "Increased urinary alpha-1-acid glycoprotein": "HP:0032377", + "Immediate-type hypersensitivity drug reaction": "HP:0032378", + "Polymorphous light eruption": "HP:0032379", + "Sun allergy": "HP:0032379", + "Hydroa vacciniforme": "HP:0032381", + "Acute vesiculation and crusting and scarring following sun exposure": "HP:0032381", + "Uniparental disomy": "HP:0032382", + "UPD": "HP:0032382", + "Uniparental heterodisomy": "HP:0032383", + "Uniparental isodisomy": "HP:0032384", + "Abnormal circulating transferrin concentration": "HP:0032385", + "Abnormal circulating transferrin level": "HP:0032385", + "Elevated circulating transferrin concentration": "HP:0032386", + "Elevated transferrin level": "HP:0032386", + "Reduced circulating transferrin concentration": "HP:0032387", + "Reduced transferrin level": "HP:0032387", + "Periventricular nodular heterotopia": "HP:0032388", + "Periventricular laminar heterotopia": "HP:0032389", + "Periventricular ribbonlike heterotopia": "HP:0032390", + "Subcortical heterotopia": "HP:0032391", + "Nodular subcortical heterotopia in peritrigonal regions": "HP:0032392", + "Diffuse ribbon-like subcortical heterotopia": "HP:0032393", + "Mesial parasagittal subcortical heterotopia": "HP:0032394", + "Curvilinear subcortical heterotopia": "HP:0032395", + "Giant heterotopia": "HP:0032395", + "Transmantle columnar heterotopia": "HP:0032396", + "Citrullinuria": "HP:0032397", + "Citrulline high in urine": "HP:0032397", + "Dysgyria": "HP:0032398", + "Dysgyria with normal cortical thickness": "HP:0032399", + "Dysgyria with thickened cortex": "HP:0032400", + "Aspartic aciduria": "HP:0032401", + "Asparaginuria": "HP:0032403", + "Increased level of asparagine in urine": "HP:0032403", + "Increased urine asparagine level": "HP:0032403", + "Testicular mass": "HP:0032404", + "Increased urinary phosphoserine level": "HP:0032405", + "Increased level of phosphoserine in urine": "HP:0032405", + "Unilateral perisylvian polymicrogyria": "HP:0032406", + "Bilateral perisylvian polymicrogyria": "HP:0032407", + "Breast mass": "HP:0032408", + "Breast lump": "HP:0032408", + "Subcortical band heterotopia": "HP:0032409", + "Bilateral generalized polymicrogyria": "HP:0032410", + "Bilateral generalised polymicrogyria": "HP:0032410", + "Diffuse polymicrogyria": "HP:0032410", + "Posterior predominant subcortical band heterotopia": "HP:0032411", + "Occipital subcortical band heterotopia": "HP:0032411", + "Subcortical band heterotopia posterior predominant": "HP:0032411", + "Anterior predominant subcortical band heterotopia": "HP:0032412", + "Frontal subcortical band heterotopia": "HP:0032412", + "Subcortical band heterotopia anterior predominant": "HP:0032412", + "Diffuse subcortical band heterotopia": "HP:0032413", + "Subcortical band heterotopia diffuse": "HP:0032413", + "Hydroxylysinuria": "HP:0032414", + "Hydroxylysine high in urine": "HP:0032414", + "Parasagittal parieto-occipital polymicrogyria": "HP:0032415", + "Retinal microaneurysm": "HP:0032416", + "Periglomerular fibrosis": "HP:0032417", + "Periglomerular fibrotic thickening": "HP:0032417", + "Abnormal HDL subfraction concentration": "HP:0032418", + "Abnormal HDL2a concentration": "HP:0032419", + "Increased HDL2a concentration": "HP:0032420", + "Decreased HDL2a concentration": "HP:0032421", + "Abnormal HDL2b concentration": "HP:0032422", + "Decreased HDL2b concentration": "HP:0032423", + "Increased HDL2b concentration": "HP:0032424", + "Abnormal HDL3a concentration": "HP:0032425", + "Abnormal HDL3b concentration": "HP:0032426", + "Abnormal HDL3c concentration": "HP:0032427", + "Increased HDL3a concentration": "HP:0032428", + "Decreased HDL3a concentration": "HP:0032429", + "Increased HDL3b concentration": "HP:0032430", + "Decreased HDL3b concentration": "HP:0032431", + "Increased HDL3c concentration": "HP:0032432", + "Decreased HDL3c concentration": "HP:0032433", + "Delayed umbilical cord separation": "HP:0032434", + "Delayed separation of umbilical cord": "HP:0032434", + "Neonatal omphalitis": "HP:0032435", + "Omphalitis": "HP:0032435", + "Umbilical cord stump infection": "HP:0032435", + "Abnormal circulating C-reactive protein concentration": "HP:0032436", + "Abnormal C-reactive protein level": "HP:0032436", + "Reduced circulating C-reactive protein concecntration": "HP:0032437", + "Reduced C-reactive protein level": "HP:0032437", + "Platelet anisocytosis": "HP:0032438", + "Airborn particle hypersensitivity": "HP:0032439", + "Blood group B": "HP:0032440", + "Blood group AB": "HP:0032441", + "Blood group O": "HP:0032442", + "Past medical history": "HP:0032443", + "Status post organ transplantation": "HP:0032444", + "s/p organ transplantation": "HP:0032444", + "Pulmonary cyst": "HP:0032445", + "Lung cyst": "HP:0032445", + "Pulmonary bulla": "HP:0032446", + "Pulmonary bullae": "HP:0032446", + "Pulmonary bleb": "HP:0032447", + "Achlorhydria": "HP:0032448", + "Abnormal dermoepidermal hemidesmosome morphology": "HP:0032449", + "Positive blood arsenic test": "HP:0032450", + "Oral melanotic macule": "HP:0032451", + "Melanotic macule of oral mucosa": "HP:0032451", + "Oral melanoacanthoma": "HP:0032452", + "Abnormal lip pigmentation": "HP:0032453", + "Labial melanotic macule": "HP:0032454", + "Labial melanotic freckle": "HP:0032454", + "Reduced granulocyte CD18 level": "HP:0032455", + "Unlayered lissencephaly": "HP:0032456", + "2-3-layered lissencephaly": "HP:0032457", + "Narrowing of medullary canal": "HP:0032458", + "Medullary cavity obliteration": "HP:0032458", + "Narrowing of bone marrow canal": "HP:0032458", + "Narrowing of bone medullary canal": "HP:0032458", + "Narrowing of the marrow cavity": "HP:0032458", + "Abnormal phosphoribosylpyrophosphate synthetase level": "HP:0032459", + "Decreased phosphoribosylpyrophosphate synthetase level": "HP:0032460", + "obsolete Tiger-tail banding": "HP:0032461", + "Increased circulating palmitate level": "HP:0032462", + "Reduced circulating fibronectin level": "HP:0032463", + "Decreased plasma fibronectin": "HP:0032463", + "Ureteral hypoplasia": "HP:0032464", + "Hypoplasia of the ureter": "HP:0032464", + "Ureter hypoplasia": "HP:0032464", + "Bladder trabeculation": "HP:0032465", + "Trabecular bladder": "HP:0032465", + "Aplasia of the olfactory bulb": "HP:0032466", + "Aplastic olfactory bulb": "HP:0032466", + "Olfactory bulb aplasia": "HP:0032466", + "Past obstetric history": "HP:0032467", + "Maternal medical history": "HP:0032467", + "History of stillbirth": "HP:0032468", + "Anti-asialoglycoprotein receptor antibody positivity": "HP:0032469", + "Monilethrix": "HP:0032470", + "Focal polymicrogyria": "HP:0032471", + "Abnormal urine urobilinogen level": "HP:0032472", + "Decreased urine urobilinogen": "HP:0032473", + "6-layered lissencephaly": "HP:0032475", + "Abnormal circulating vitamin B6 concentration": "HP:0032476", + "Abnormal circulating vitamin B6 level": "HP:0032476", + "Abnormal circulating pyridoxal 5'-phosphate concentration": "HP:0032476", + "Elevated circulating vitamin B6 concentration": "HP:0032477", + "Elevated circulating vitamin B6 level": "HP:0032477", + "Lateral spinal meningocele": "HP:0032478", + "Preimplantation lethality": "HP:0032479", + "Early embryonic arrest": "HP:0032479", + "Preimplantation embryonic lethality": "HP:0032479", + "Beta-aminoisobutyric aciduria": "HP:0032480", + "Abnormal pituitary glycoprotein hormone alpha subunit level": "HP:0032481", + "Decreased pituitary glycoprotein hormone alpha subunit level": "HP:0032482", + "Decreased pituitary glycoprotein alpha subunit level": "HP:0032482", + "Decreased pituitary glycoprotein polypeptide alpha subunit level": "HP:0032482", + "obsolete Abnormal fecal test result": "HP:0032483", + "Elevated fecal sodium": "HP:0032484", + "Elevated faecal sodium": "HP:0032484", + "Abnormal fecal osmolality": "HP:0032485", + "Abnormal faecal osmolality": "HP:0032485", + "Elevated fecal osmolality": "HP:0032486", + "Elevated faecal osmolality": "HP:0032486", + "Reduced fecal osmolality": "HP:0032487", + "Reduced faecal osmolality": "HP:0032487", + "Abnormal fecal pH": "HP:0032488", + "Abnormal faecal pH": "HP:0032488", + "Elevated fecal pH": "HP:0032489", + "Elevated faecal pH": "HP:0032489", + "Stool pH high": "HP:0032489", + "Decreased fecal pH": "HP:0032490", + "Decreased faecal pH": "HP:0032490", + "Stool pH low": "HP:0032490", + "Increased circulating argininosuccinic acid": "HP:0032491", + "Anti-myelin oligodendrocyte glycoprotein antibody positivity": "HP:0032492", + "Anti-MOG antibody positivity": "HP:0032492", + "Increased circulating trypsinogen": "HP:0032493", + "Increased immunoreactive trypsinogen": "HP:0032493", + "Abnormal terminal:vellus ratio": "HP:0032495", + "Elevated terminal:vellus ratio": "HP:0032496", + "Reduced terminal:vellus ratio": "HP:0032497", + "Giant neutrophil granules": "HP:0032499", + "Exacerbated by tobacco use": "HP:0032500", + "Aggravated by tobacco use": "HP:0032500", + "Exacerbated by smoking": "HP:0032500", + "Smoking or tobacco use exacerbates symptoms": "HP:0032500", + "Exacerbated by contraceptive medication exposure": "HP:0032501", + "Contraceptive pills aggravate symptoms": "HP:0032501", + "Exacerbated by barbiturate exposure": "HP:0032502", + "Barbiturates produce worsening": "HP:0032502", + "Ameliorated by ethanol ingestion": "HP:0032503", + "Ethanol reduces manifestations": "HP:0032503", + "Lhermitte's sign": "HP:0032504", + "Barber chair phenomenon": "HP:0032504", + "Lhermitte's phenomenon": "HP:0032504", + "Hydrophobia": "HP:0032505", + "Alien limb phenomenon": "HP:0032506", + "Labiomental fasciculations": "HP:0032507", + "Fasciculations, labiomental": "HP:0032507", + "Polyembolokoilamania": "HP:0032508", + "Onychotillomania": "HP:0032509", + "Tendon pain": "HP:0032510", + "Superiorly positioned umbilicus": "HP:0032511", + "Four-vessel umbilical cord": "HP:0032513", + "Supernumerary lacrimal punctum": "HP:0032514", + "Accessory puncta": "HP:0032514", + "Double lacrimal puncta": "HP:0032514", + "Double punctum": "HP:0032514", + "Lacrimal punctum, duplication": "HP:0032514", + "Punctum reduplication": "HP:0032514", + "Supernumerary punctum": "HP:0032514", + "Deep dermatophytosis": "HP:0032515", + "Invasive dermatophyte infection": "HP:0032516", + "Majocchi's granuloma": "HP:0032517", + "Disseminated dermatophytosis": "HP:0032518", + "Increased Burr cell count": "HP:0032519", + "Masseter muscular weakness": "HP:0032520", + "Self hugging": "HP:0032521", + "Spasmodic upper-body squeeze": "HP:0032521", + "Ameliorated by immunosuppresion": "HP:0032522", + "Immunosupressive therapy improves condition": "HP:0032522", + "Tendon thickening": "HP:0032523", + "Long thumb": "HP:0032524", + "Exacerbated by acetylcholinesterase inhibitor exposure": "HP:0032525", + "Ameliorated by acetylcholinesterase inhibitor": "HP:0032526", + "Inferiorly positioned umbilicus": "HP:0032527", + "Low set umbilicus": "HP:0032527", + "Low-set umbilicus": "HP:0032527", + "Elevated urinary 4-hydroxybutyric acid": "HP:0032528", + "obsolete Elevated circulating gamma-aminobutyric acid concentration": "HP:0032529", + "Decreased tissue succinic semialdehyde dehydrogenase activity": "HP:0032530", + "Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts": "HP:0032530", + "Decreased succinic semialdehyde dehydrogenase leukocyte activity": "HP:0032530", + "Decreased succinic semialdehyde dehydrogenase level": "HP:0032530", + "Elevated CSF gamma-aminobutyric acid concentration": "HP:0032531", + "Gamma-aminobutyric acid (GABA) high in CSF": "HP:0032531", + "Elevated CSF 4-hydroxybutyric acid concentration": "HP:0032532", + "Elevated CSF GHB levels": "HP:0032532", + "Elevated CSF gamma-hydroxybutyric acid": "HP:0032532", + "Elevated circulating acetone concentration": "HP:0032533", + "Exacerbated by methylxanthine ingestion": "HP:0032534", + "Methylxanthines produce worsening": "HP:0032534", + "Cervical (neck)": "HP:0032535", + "Increased number of lymph nodes": "HP:0032536", + "Delayed fracture healing": "HP:0032537", + "Pretibial dimple": "HP:0032538", + "Joint extensor surface localization": "HP:0032539", + "Joint flexor surface localization": "HP:0032540", + "Knuckle pad": "HP:0032541", + "DDN": "HP:0032541", + "Dorsal dupuytren nodules": "HP:0032541", + "Knuckle pads on dorsal aspect of finger joints": "HP:0032541", + "Exacerbated by pregnancy": "HP:0032542", + "Lithoptysis": "HP:0032543", + "Predominant small joint localization": "HP:0032544", + "Abdominal rigidity": "HP:0032545", + "Rigid abdomen": "HP:0032545", + "Abdominal guarding": "HP:0032546", + "Low intraocular pressure": "HP:0032547", + "Ocular hypotony": "HP:0032547", + "Increased placental thickness": "HP:0032548", + "Placental thickness increased": "HP:0032548", + "Persistent asymmetrical tonic neck reflex": "HP:0032549", + "Persistent fencer's reflex": "HP:0032549", + "Tonic neck reflex asymmetrical and persistent": "HP:0032549", + "Howell-Jolly bodies": "HP:0032550", + "Hemorrhoids": "HP:0032551", + "Haemorrhoids": "HP:0032551", + "Piles": "HP:0032551", + "Abnormal pulse": "HP:0032552", + "Weak pulse": "HP:0032553", + "Absent pulse": "HP:0032554", + "Bounding pulse": "HP:0032555", + "Circumoral cyanosis": "HP:0032556", + "Bluish around mouth": "HP:0032556", + "History of bone marrow transplant": "HP:0032557", + "Status post haematopoietic stem cell transplantation": "HP:0032557", + "Status post hematopoietic stem cell transplantation": "HP:0032557", + "Absent sperm flagella": "HP:0032558", + "Short sperm flagella": "HP:0032559", + "Coiled sperm flagella": "HP:0032560", + "Microcephalic sperm head": "HP:0032561", + "Small-head sperm": "HP:0032561", + "Tapered sperm head": "HP:0032562", + "Dacryocytosis": "HP:0032563", + "Dacryocytes": "HP:0032563", + "Tear-drop shaped erythrocytes": "HP:0032563", + "Ileitis": "HP:0032564", + "Inflammation of the ileum": "HP:0032564", + "Vaginal mucosal ulceration": "HP:0032565", + "Oval macrocytosis": "HP:0032566", + "Lipiduria": "HP:0032567", + "Urinary lipid excretion": "HP:0032567", + "Urinary mulberry cells": "HP:0032568", + "Temporal bossing": "HP:0032569", + "Pontine ischemic lacunes": "HP:0032570", + "Pontine ischaemic lacunes": "HP:0032570", + "Increased oocyte death": "HP:0032571", + "Abnormal urinary nucleobase concentration": "HP:0032572", + "Elevated urinary cytidine": "HP:0032573", + "Elevated urinary uridine level": "HP:0032574", + "Elevated uridine in urine": "HP:0032574", + "Decreased circulating 12-HETE": "HP:0032575", + "Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration": "HP:0032575", + "Intracellular accumulation of Dol-PP-GlcNAc2Man5": "HP:0032576", + "Clonal T cell receptor rearrangement": "HP:0032577", + "Third ventricle colloid cyst": "HP:0032578", + "Vascular hamartoma": "HP:0032579", + "Abnormal bulbus cordis morphology": "HP:0032580", + "Abnormal renal insterstitial morphology": "HP:0032581", + "Renal interstitial foam cells": "HP:0032582", + "Renal glomerular foam cells": "HP:0032583", + "Renal interstitial neutrophil infiltration": "HP:0032584", + "Renal interstitial eosinophil infiltration": "HP:0032585", + "Renal interstitial plasma cell infiltration": "HP:0032586", + "Renal interstitial calcium oxalate": "HP:0032587", + "Hand apraxia": "HP:0032588", + "Lack of purposeful hand use": "HP:0032588", + "Renal lymphocytic tubulitis": "HP:0032589", + "Renal neutrophilic tubulitis": "HP:0032590", + "Renal interstitial hemosiderin": "HP:0032591", + "Aplasia of the right hemidiaphragm": "HP:0032592", + "Right diaphragmatic hernia": "HP:0032592", + "Myoglobin casts": "HP:0032593", + "Renal tubular basement membrane denudation": "HP:0032594", + "Denuded tubular basement membrane": "HP:0032594", + "Renal tubular epithelial cell detachment": "HP:0032595", + "Renal tubular epithelial cell cytoplasmic vacuolization": "HP:0032596", + "Renal tubular epithelial cell sloughing": "HP:0032597", + "Blebbing of apical cytoplasm of renal tubular epithelial cells": "HP:0032598", + "Abnormal renal tubular epithelial morphology": "HP:0032599", + "Renal tubular epithelial cell hyaline droplets": "HP:0032600", + "Multinucleation of renal tubular epithelial cells": "HP:0032601", + "Prominent nucleoli of renal tubular epithelial cells": "HP:0032602", + "Renal tubular epithelial cell simplification": "HP:0032603", + "Renal tubular epithelial cell mitosis": "HP:0032604", + "High renal tubular epithelial cell N/C ratio": "HP:0032605", + "High N/C ratio of renal tubular epithelial cells": "HP:0032605", + "Renal tubular epithelial lipofuscin": "HP:0032606", + "Renal tubular epithelial cell swelling": "HP:0032607", + "Thyroidization-type tubular atrophy": "HP:0032608", + "Endocrine-type tubular atrophy": "HP:0032609", + "Endocrinization pattern of tubular atrophy": "HP:0032609", + "Renal tubular atrophy, endocrine-type": "HP:0032609", + "Tubulointerstitial mycobacterial infiltration": "HP:0032610", + "Renal tubulointerstitial mycobacterial organisms": "HP:0032610", + "Renal tubular epithelial cell hemosiderin": "HP:0032611", + "Triphalangeal hallux": "HP:0032612", + "Renal interstitial amyloid deposits": "HP:0032613", + "Renal interstitial amyloid": "HP:0032613", + "Renal interstitial amyloid deposition": "HP:0032613", + "Renal interstitial amyloidosis": "HP:0032613", + "Renal glomerular amyloid deposition": "HP:0032614", + "Abnormal diffusion weighted cerebral MRI morphology": "HP:0032615", + "Diffusion weighted imaging (DWI) abnormality": "HP:0032615", + "Diffusion weighted magnetic resonance imaging (DWI) abnormality": "HP:0032615", + "MRI diffusion abnormality of the cerebrum": "HP:0032615", + "Renal interstitial immunoglobulin deposits": "HP:0032616", + "Renal interstitial immunoglobulin deposition": "HP:0032616", + "Renal interstitial hemorrhage": "HP:0032617", + "Renal interstitial haemorrhage": "HP:0032617", + "Renal necrosis": "HP:0032618", + "Renal parenchymal necrosis": "HP:0032618", + "Perinephric abscess": "HP:0032619", + "Intrarenal abscess": "HP:0032620", + "Renal abscess": "HP:0032620", + "Renal parenchymal abscess": "HP:0032620", + "Hyperchromasia of renal tubular epithelial cells": "HP:0032621", + "Condensed chromatin of renal tubular epithelial cells": "HP:0032621", + "Tubular luminal dilatation": "HP:0032622", + "Tubular ectasia": "HP:0032622", + "Renal intratubular casts": "HP:0032623", + "Tubular casts": "HP:0032623", + "Intratubular bilirubin casts": "HP:0032624", + "Intratubular erythrocyte cast": "HP:0032625", + "Intratubular vancomycin casts": "HP:0032626", + "Intratubular leukocyte casts": "HP:0032627", + "Renal intratubular crystals": "HP:0032628", + "Intratubular dihydroxyadenuria crystals": "HP:0032629", + "Intratubular light-chain casts": "HP:0032630", + "Intratubular hemoglobin casts": "HP:0032631", + "Intratubular haemoglobin casts": "HP:0032631", + "Renal papillary necrosis": "HP:0032632", + "Intratubular hyaline casts": "HP:0032633", + "Intratubular Tamm-Horsfall (uromodulin) casts": "HP:0032633", + "Intratubular myoglobin cast": "HP:0032634", + "Tubulointerstitial microganismal infiltration": "HP:0032635", + "Tubulointerstitial viral infiltration": "HP:0032636", + "Renal tubulointerstitial viral inclusions": "HP:0032636", + "Renal interstitial edema": "HP:0032637", + "Renal interstitial oedema": "HP:0032637", + "Elevated urine mevalonic acid level": "HP:0032638", + "Elevated urine mevalonate": "HP:0032638", + "Elevated urine mevalonate levels": "HP:0032638", + "Elevated urine mevalonic acid": "HP:0032638", + "Mevalonate aciduria": "HP:0032638", + "Elevated leukocyte cystine": "HP:0032639", + "Elevated circulating CCL18 level": "HP:0032640", + "Increased C-C motif chemokine ligand 18 concentration": "HP:0032640", + "Renal interstitial granulomas": "HP:0032641", + "Renal interstitial granulomata": "HP:0032641", + "Renal interstitial necrotizing granulomas": "HP:0032642", + "Renal interstitial necrotizing granulomata": "HP:0032642", + "Renal interstitial non-necrotizing granulomas": "HP:0032643", + "Renal interstitial non-necrotizing granulomata": "HP:0032643", + "Renal interstitial deposits": "HP:0032644", + "Renal interstitial mononuclear cell infiltration": "HP:0032645", + "Renal interstitial xanthogranulomatous inflammation": "HP:0032646", + "Renal tubular epithelial cell apoptosis": "HP:0032647", + "Tubularization of Bowman capsule": "HP:0032648", + "Skewfoot": "HP:0032649", + "Skew foot": "HP:0032649", + "Skew-foot": "HP:0032649", + "Elevated CSF glial fibrillary acidic protein concentration": "HP:0032650", + "Elevated CSF glial fibrillary acidic protein level": "HP:0032650", + "Elevated CSF chitinase-3-like protein 1 concentration": "HP:0032651", + "Elevated CSF chitinase-3-like protein 1 level": "HP:0032651", + "Elevated CSF chitotriosidase 1 concentration": "HP:0032652", + "Elevated CSF chitotriosidase 1 level": "HP:0032652", + "Elevated lactate:pyruvate ratio": "HP:0032653", + "Impaired flow-mediated arterial dilatation": "HP:0032654", + "Endothelial dysfunction": "HP:0032654", + "Decreased adipose tissue tocopherol level": "HP:0032655", + "Febrile status epilepticus": "HP:0032656", + "Fever-induced status epilepticus": "HP:0032656", + "Elevated circulating lyso-globotriaosylsphingosine concentration": "HP:0032657", + "Status epilepticus with prominent motor symptoms": "HP:0032658", + "Non-convulsive status epilepticus with coma": "HP:0032659", + "Subtle status epilepticus": "HP:0032659", + "Convulsive status epilepticus": "HP:0032660", + "Tonic-clonic status epilepticus": "HP:0032660", + "Generalized convulsive status epilepticus": "HP:0032661", + "Generalised convulsive status epilepticus": "HP:0032661", + "Focal-onset seizure evolving into bilateral convulsive status epilepticus": "HP:0032662", + "Focal onset seizure evolving into bilateral convulsive status epilepticus": "HP:0032662", + "Focal-onset seizure evolving into generalised convulsive status epilepticus": "HP:0032662", + "Focal-onset seizure evolving into generalized convulsive status epilepticus": "HP:0032662", + "Partial onset seizure evolving into convulsive status epilepticus": "HP:0032662", + "Partial-onset seizure evolving into convulsive status epilepticus": "HP:0032662", + "Secondarily generalised convulsive status epilepticus": "HP:0032662", + "Secondarily generalised tonic-clonic status epilepticus": "HP:0032662", + "Secondarily generalized convulsive status epilepticus": "HP:0032662", + "Secondarily generalized tonic-clonic status epilepticus": "HP:0032662", + "Focal motor status epilepticus": "HP:0032663", + "Adversive status epilepticus": "HP:0032664", + "Repeated focal motor seizures": "HP:0032665", + "Jacksonian status epilepticus": "HP:0032665", + "Hyperkinetic status epilepticus": "HP:0032666", + "Myoclonic status epilepticus": "HP:0032667", + "Myoclonic status epilepticus without coma": "HP:0032668", + "Myoclonic status epilepticus with coma": "HP:0032669", + "Tonic status epilepticus": "HP:0032670", + "Non-convulsive status epilepticus without coma": "HP:0032671", + "Autonomic status epilepticus": "HP:0032672", + "Focal non-convulsive status epilepticus without coma": "HP:0032673", + "Cutaneous wound": "HP:0032674", + "Skin wound": "HP:0032674", + "Acute cutaneous wound": "HP:0032675", + "Chronic cutaneous wound": "HP:0032676", + "Chronic nonhealing cutaneous wound": "HP:0032676", + "Generalized-onset motor seizure": "HP:0032677", + "Generalised onset motor seizure": "HP:0032677", + "Generalised-onset motor seizure": "HP:0032677", + "Generalized onset motor seizure": "HP:0032677", + "Eyelid myoclonia seizure": "HP:0032678", + "Focal non-motor seizure": "HP:0032679", + "Focal seizure without motor onset": "HP:0032679", + "Partial seizure without motor onset": "HP:0032679", + "Focal cognitive seizure": "HP:0032680", + "Cognitive aura": "HP:0032680", + "Cognitive seizure": "HP:0032680", + "Partial cognitive seizure": "HP:0032680", + "Focal aware cognitive seizure": "HP:0032681", + "Focal aware non-motor seizure": "HP:0032682", + "Focal non-motor aware seizure": "HP:0032682", + "obsolete Focal aware cognitive seizure with impaired attention": "HP:0032683", + "Focal aware cognitive seizure with auditory agnosia": "HP:0032684", + "Focal cognitive seizure with auditory agnosia": "HP:0032685", + "Focal aware cognitive seizure with memory impairment": "HP:0032686", + "Focal cognitive seizure with memory impairment": "HP:0032687", + "Amnestic aura": "HP:0032687", + "Amnestic seizure": "HP:0032687", + "Focal aware cognitive seizure with dissociation": "HP:0032688", + "Focal cognitive seizure with dissociation": "HP:0032689", + "Focal aware cognitive seizure with dyscalculia/acalculia": "HP:0032690", + "Focal cognitive seizure with dyscalculia/acalculia": "HP:0032691", + "Focal cognitive seizure with forced thinking": "HP:0032692", + "Focal cognitive seizure with neglect": "HP:0032693", + "Focal cognitive seizure with dyslexia/alexia": "HP:0032694", + "obsolete Illusory auras": "HP:0032695", + "Focal cognitive seizure with receptive dysphasia/aphasia": "HP:0032696", + "obsolete Focal cognitive seizure with deja vu/jamais vu": "HP:0032697", + "Focal cognitive seizure with conduction dysphasia/aphasia": "HP:0032698", + "Focal cognitive seizure with dysgraphia/agraphia": "HP:0032699", + "Focal cognitive seizure with left-right confusion": "HP:0032700", + "Focal cognitive seizure with anomia": "HP:0032701", + "Focal cognitive seizure with expressive dysphasia/aphasia": "HP:0032702", + "obsolete Hallucinatory aura": "HP:0032703", + "Focal aware cognitive seizure with illusion": "HP:0032704", + "Focal aware cognitive seizure with forced thinking": "HP:0032705", + "Focal aware cognitive seizure with left-right confusion": "HP:0032706", + "Focal aware cognitive seizure with dyslexia/alexia": "HP:0032707", + "Focal aware cognitive seizure with anomia": "HP:0032708", + "Focal aware cognitive seizure with dysgraphia/agraphia": "HP:0032709", + "Focal aware cognitive seizure with receptive dysphasia/aphasia": "HP:0032710", + "Focal aware clonic seizure": "HP:0032711", + "Focal impaired awareness motor seizure": "HP:0032712", + "Focal motor impaired awareness seizure": "HP:0032712", + "Focal impaired awareness motor seizure with version": "HP:0032713", + "Focal motor impaired awareness seizure with version": "HP:0032713", + "Focal impaired awareness bilateral motor seizure": "HP:0032714", + "Focal bilateral motor seizure": "HP:0032715", + "Focal impaired awareness non-motor seizure": "HP:0032716", + "Focal non-motor impaired awareness seizure": "HP:0032716", + "Focal impaired awareness motor seizure with dystonia": "HP:0032717", + "Focal motor impaired awareness seizure with dystonia": "HP:0032717", + "Focal motor seizure with dystonia": "HP:0032718", + "Focal impaired awareness motor seizure with dysarthria/anarthria": "HP:0032719", + "Focal motor impaired awareness seizure with dysarthria/anarthria": "HP:0032719", + "Focal motor seizure with dysarthria/anarthria": "HP:0032720", + "Focal motor seizure with paresis/paralysis": "HP:0032721", + "Focal aware tonic seizure": "HP:0032722", + "Focal aware motor seizure with dystonia": "HP:0032723", + "Focal motor aware seizure with dystonia": "HP:0032723", + "Focal impaired awareness tonic seizure": "HP:0032724", + "Focal impaired awareness clonic seizure": "HP:0032725", + "Focal impaired awareness hyperkinetic seizure": "HP:0032726", + "Focal emotional seizure with agitation": "HP:0032727", + "Focal impaired awareness atonic seizure": "HP:0032728", + "Focal emotional seizure with pleasure": "HP:0032729", + "Focal impaired awareness myoclonic seizure": "HP:0032730", + "Focal aware hyperkinetic seizure": "HP:0032731", + "Focal aware motor seizure with paresis/paralysis": "HP:0032732", + "Focal motor aware seizure with paresis/paralysis": "HP:0032732", + "Focal aware motor seizure with dysarthria/anarthria": "HP:0032733", + "Focal motor aware seizure with dysarthria/anarthria": "HP:0032733", + "Focal aware emotional seizure": "HP:0032734", + "Focal aware emotional seizure with anger": "HP:0032735", + "Focal emotional seizure with anger": "HP:0032736", + "Focal emotional seizure with paranoia": "HP:0032737", + "Focal aware emotional seizure with fear/anxiety/panic": "HP:0032738", + "Focal emotional seizure with fear/anxiety/panic": "HP:0032739", + "Focal aware autonomic seizure": "HP:0032740", + "Focal autonomic seizures without altered responsiveness": "HP:0032740", + "Localised autonomic seizures without altered responsiveness": "HP:0032740", + "Localized autonomic seizures without altered responsiveness": "HP:0032740", + "Partial autonomic seizures without altered responsiveness": "HP:0032740", + "Focal aware emotional seizure with paranoia": "HP:0032741", + "Focal aware emotional seizure with pleasure": "HP:0032742", + "Focal aware emotional seizure with crying": "HP:0032743", + "Focal aware emotional seizure with agitation": "HP:0032744", + "Focal aware emotional seizure with laughing": "HP:0032745", + "Focal impaired awareness emotional seizure": "HP:0032746", + "Focal impaired awareness emotional seizure with pleasure": "HP:0032747", + "Focal impaired awareness emotional seizure with anger": "HP:0032748", + "Focal impaired awareness emotional seizure with paranoia": "HP:0032749", + "Focal impaired awareness emotional seizure with laughing": "HP:0032750", + "Focal impaired awareness emotional seizure with crying": "HP:0032751", + "Focal impaired awareness emotional seizure with fear/anxiety/panic": "HP:0032752", + "Focal impaired awareness emotional seizure with agitation": "HP:0032753", + "Focal aware sensory seizure": "HP:0032754", + "Focal impaired awareness autonomic seizure": "HP:0032755", + "Focal autonomic seizure with altered responsiveness": "HP:0032755", + "Localised autonomic seizure with altered responsiveness": "HP:0032755", + "Localized autonomic seizure with altered responsiveness": "HP:0032755", + "Partial autonomic seizure with altered responsiveness": "HP:0032755", + "Focal impaired awareness cognitive seizure": "HP:0032756", + "Focal aware hemiclonic seizure": "HP:0032757", + "Focal aware myoclonic seizure": "HP:0032758", + "Focal sensory seizure with vestibular features": "HP:0032759", + "Focal vestibular seizure": "HP:0032759", + "Partial vestibular seizure": "HP:0032759", + "Vestibular aura": "HP:0032759", + "Focal sensory seizure with hot-cold sensations": "HP:0032760", + "Focal aware autonomic seizure with pallor/flushing": "HP:0032761", + "Focal autonomic seizure with pallor/flushing": "HP:0032762", + "Focal autonomic seizure with pupillary dilation/constriction": "HP:0032763", + "Focal autonomic seizure with erection": "HP:0032764", + "Focal autonomic seizure with urge to urinate/defecate": "HP:0032765", + "Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration": "HP:0032766", + "Focal autonomic seizure with piloerection": "HP:0032767", + "Focal aware autonomic seizure with pupillary dilation/constriction": "HP:0032768", + "Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration": "HP:0032769", + "Focal aware autonomic seizure with erection": "HP:0032770", + "Focal autonomic seizure with lacrimation": "HP:0032771", + "Focal impaired awareness autonomic seizure with piloerection": "HP:0032772", + "Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole": "HP:0032773", + "Focal impaired awareness autonomic seizure with urge to urinate/defecate": "HP:0032774", + "Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration": "HP:0032775", + "Focal aware autonomic seizure with lacrimation": "HP:0032776", + "Focal impaired awareness autonomic seizure with pallor/flushing": "HP:0032777", + "Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena": "HP:0032778", + "Focal impaired awareness autonomic seizure with pupillary dilation/constriction": "HP:0032779", + "Focal impaired awareness autonomic seizure with erection": "HP:0032780", + "Focal aware autonomic seizure with urge to urinate/defecate": "HP:0032781", + "Focal impaired awareness autonomic seizure with lacrimation": "HP:0032782", + "Focal aware autonomic seizure with piloerection": "HP:0032783", + "Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole": "HP:0032784", + "Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena": "HP:0032785", + "Migrating focal seizure": "HP:0032786", + "Migrating partial seizure": "HP:0032786", + "Focal impaired awareness sensory seizure": "HP:0032787", + "Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole": "HP:0032788", + "Focal aware behavior arrest seizure": "HP:0032789", + "Focal aware behaviour arrest seizure": "HP:0032789", + "Focal impaired awareness behavior arrest seizure": "HP:0032790", + "Focal impaired awareness behaviour arrest seizure": "HP:0032790", + "Focal impaired awareness cognitive seizure with anomia": "HP:0032791", + "Tonic seizure": "HP:0032792", + "Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia": "HP:0032793", + "Myoclonic seizure": "HP:0032794", + "Generalized myoclonic-tonic-clonic seizure": "HP:0032795", + "Generalised myoclonic-tonic-clonic seizure": "HP:0032795", + "Generalised onset myoclonic-tonic-clonic seizure": "HP:0032795", + "Generalised-onset myoclonic-tonic-clonic seizure": "HP:0032795", + "Generalized-onset myoclonic-tonic-clonic seizure": "HP:0032795", + "generalised onset myoclonic-tonic-clonic seizure": "HP:0032795", + "generalized onset myoclonic-tonic-clonic seizure": "HP:0032795", + "Focal impaired awareness cognitive seizure with left-right confusion": "HP:0032796", + "Focal aware sensory seizure with olfactory features": "HP:0032797", + "Focal impaired awareness cognitive seizure with neglect": "HP:0032798", + "Focal impaired awareness hemiclonic seizure": "HP:0032799", + "Focal aware sensory seizure with vestibular features": "HP:0032800", + "Focal impaired awareness cognitive seizure with memory impairment": "HP:0032801", + "Focal impaired awareness cognitive seizure with dyscalculia/acalculia": "HP:0032802", + "Focal impaired awareness cognitive seizure with dysgraphia/agraphia": "HP:0032803", + "Focal impaired awareness sensory seizure with olfactory features": "HP:0032804", + "Focal impaired awareness sensory seizure with vestibular features": "HP:0032805", + "Focal impaired awareness sensory seizure with visual features": "HP:0032806", + "Neonatal seizure": "HP:0032807", + "Neonatal seizure with electrographic correlate": "HP:0032808", + "Neonatal electro-clinical seizure": "HP:0032809", + "Focal sensory seizure with cephalic sensation": "HP:0032810", + "Cephalic aura": "HP:0032810", + "Focal seizure with cephalic sensation": "HP:0032810", + "Partial seizure with cephalic sensation": "HP:0032810", + "Neonatal electrographic only seizure": "HP:0032811", + "Neonatal electro-clinical non-motor seizure": "HP:0032812", + "Neonatal electro-clinical motor seizure": "HP:0032813", + "Neonatal electro-clinical clonic seizure": "HP:0032814", + "Neonatal electroclinical clonic seizure": "HP:0032814", + "Neonatal electro-clinical myoclonic seizure": "HP:0032815", + "Neonatal electroclinical myoclonic seizure": "HP:0032815", + "Neonatal multifocal myoclonic seizure": "HP:0032816", + "Neonatal focal myoclonic seizure": "HP:0032817", + "Neonatal focal clonic seizure": "HP:0032818", + "Neonatal bilateral clonic seizure": "HP:0032819", + "Neonatal multifocal clonic seizure": "HP:0032820", + "Neonatal electro-clinical tonic seizure": "HP:0032821", + "Neonatal electro-clinical autonomic seizure": "HP:0032822", + "Neonatal electro-clinical seizure with behavior arrest": "HP:0032823", + "Neonatal electro-clinical seizure with behaviour arrest": "HP:0032823", + "Neonatal electroclinical seizure with behavioral arrest": "HP:0032823", + "Neonatal electroclinical seizure with behavioural arrest": "HP:0032823", + "Neonatal focal tonic seizure": "HP:0032824", + "Neonatal electro-clinical sequential seizure": "HP:0032825", + "Neonatal electroclinical sequential seizure": "HP:0032825", + "Focal neonatal sequential seizure": "HP:0032826", + "Multifocal neonatal sequential seizure": "HP:0032827", + "Neonatal bilateral symmetric tonic seizure": "HP:0032828", + "Neonatal electro-clinical motor seizure with automatism": "HP:0032829", + "Neonatal electroclinical motor seizure with automatism": "HP:0032829", + "Neonatal seizure with bilateral asymmetric automatism": "HP:0032830", + "Neonatal bilateral asymmetric tonic seizure": "HP:0032831", + "Neonatal bilateral asymmetric myoclonic seizure": "HP:0032832", + "Neonatal epileptic spasm": "HP:0032833", + "Neonatal seizure with unilateral automatism": "HP:0032834", + "Neonatal seizure with bilateral symmetric automatism": "HP:0032835", + "Neonatal bilateral symmetric myoclonic seizure": "HP:0032836", + "Bilateral asymmetric neonatal sequential seizure": "HP:0032837", + "Neonatal unilateral epileptic spasm": "HP:0032838", + "Bilateral symmetric neonatal sequential seizure": "HP:0032839", + "Neonatal bilateral symmetric epileptic spasm": "HP:0032840", + "Neonatal bilateral asymmetric epileptic spasm": "HP:0032841", + "Generalized-onset epileptic spasm": "HP:0032842", + "Generalised onset epileptic spasm": "HP:0032842", + "Generalised-onset epileptic spasm": "HP:0032842", + "Generalized onset epileptic spasm": "HP:0032842", + "Focal-onset epileptic spasm": "HP:0032843", + "Focal onset epileptic spasm": "HP:0032843", + "Focal impaired awareness epileptic spasm": "HP:0032844", + "Focal aware epileptic spasm": "HP:0032845", + "Focal motor seizure with negative myoclonus": "HP:0032846", + "Focal impaired awareness hemifacial clonic seizure": "HP:0032847", + "Focal aware cognitive seizure with neglect": "HP:0032848", + "Aphasic status epilepticus": "HP:0032849", + "Focal aware cognitive seizure with expressive dysphasia/aphasia": "HP:0032850", + "Focal aware sensory seizure with visual features": "HP:0032851", + "Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia": "HP:0032852", + "Focal impaired awareness sensory seizure with hot-cold sensations": "HP:0032853", + "Focal aware hemifacial clonic seizure": "HP:0032854", + "Photosensitive myoclonic-tonic-clonic seizure": "HP:0032855", + "Photically induced myoclonic-tonic-clonic seizure": "HP:0032855", + "Focal aware bilateral motor seizure": "HP:0032856", + "Focal aware motor seizure with negative myoclonus": "HP:0032857", + "Focal motor aware seizure with negative myoclonus": "HP:0032857", + "Focal impaired awareness motor seizure with negative myoclonus": "HP:0032858", + "Focal motor impaired awareness seizure with negative myoclonus": "HP:0032858", + "Focal impaired awareness motor seizure with paresis/paralysis": "HP:0032859", + "Focal motor impaired awareness seizure with paresis/paralysis": "HP:0032859", + "Generalized non-convulsive status epilepticus without coma": "HP:0032860", + "Absence status epilepticus": "HP:0032860", + "Generalised non-convulsive status epilepticus without coma": "HP:0032860", + "Petit mal status epilepticus": "HP:0032860", + "Focal non-convulsive status epilepticus with impairment of consciousness": "HP:0032861", + "Focal non-convulsive status epilepticus with impairment of awareness": "HP:0032861", + "Status epilepticus with ictal paresis": "HP:0032862", + "Focal inhibitory status epilepticus": "HP:0032862", + "Typical absence status epilepticus": "HP:0032863", + "Simple absence status epilepticus": "HP:0032863", + "Focal aware sensory seizure with auditory features": "HP:0032864", + "Myoclonic absence status epilepticus": "HP:0032865", + "Oculoclonic status epilepticus": "HP:0032866", + "Refractory status epilepticus": "HP:0032867", + "Super-refractory status epilepticus": "HP:0032868", + "Focal non-convulsive status epilepticus without impairment of consciousness": "HP:0032869", + "Aura continua": "HP:0032869", + "Focal non-convulsive status epilepticus with retained awareness": "HP:0032869", + "Focal non-convulsive status epilepticus without impairment of awareness": "HP:0032869", + "Focal impaired awareness cognitive seizure with dyslexia/alexia": "HP:0032870", + "Focal aware cognitive seizure with hallucination": "HP:0032871", + "Focal impaired awareness cognitive seizure with illusion": "HP:0032872", + "Focal aware sensory seizure with cephalic sensation": "HP:0032873", + "Focal impaired awareness cognitive seizure with auditory agnosia": "HP:0032874", + "obsolete Focal impaired awareness cognitive seizure with impaired responsiveness": "HP:0032875", + "Focal aware cognitive seizure with conduction dysphasia/aphasia": "HP:0032876", + "Focal aware sensory seizure with hot-cold sensations": "HP:0032877", + "Focal impaired awareness sensory seizure with cephalic sensation": "HP:0032878", + "Focal impaired awareness seizure with dissociation at onset": "HP:0032879", + "Focal impaired awareness sensory seizure with auditory features": "HP:0032880", + "obsolete Focal aware cognitive seizure with impaired responsiveness": "HP:0032881", + "Focal impaired awareness cognitive seizure with deja vu/jamais vu": "HP:0032882", + "Focal aware cognitive seizure with deja vu/jamais vu": "HP:0032883", + "Focal aware sensory seizure with somatosensory features": "HP:0032884", + "Focal impaired awareness cognitive seizure with hallucination": "HP:0032885", + "Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia": "HP:0032886", + "Generalized atonic seizure": "HP:0032887", + "Generalised atonic seizure": "HP:0032887", + "Focal impaired awareness cognitive seizure with forced thinking": "HP:0032888", + "Focal aware sensory seizure with gustatory features": "HP:0032889", + "Focal impaired awareness sensory seizure with somatosensory features": "HP:0032890", + "Focal aware motor seizure with version": "HP:0032891", + "Focal motor aware seizure with version": "HP:0032891", + "Infection-related seizure": "HP:0032892", + "Gastroenteritis-related afebrile seizure": "HP:0032893", + "Seizure precipitated by febrile infection": "HP:0032894", + "Fever induced seizure": "HP:0032894", + "Febrile seizure outside the age of 3 months to 6 years": "HP:0032895", + "Music-induced seizure": "HP:0032896", + "Focal impaired awareness sensory seizure with gustatory features": "HP:0032897", + "Focal automatism seizure": "HP:0032898", + "Focal orofacial automatism seizure": "HP:0032899", + "Focal manual automatism seizure": "HP:0032900", + "Focal pedal automatism seizure": "HP:0032901", + "Focal perseverative automatism seizure": "HP:0032902", + "Focal vocal automatism seizure": "HP:0032903", + "Focal verbal automatism seizure": "HP:0032904", + "Focal sexual automatism seizure": "HP:0032905", + "Focal head nodding automatism seizure": "HP:0032906", + "Focal undressing automatism seizure": "HP:0032907", + "Focal aware undressing automatism seizure": "HP:0032908", + "Focal impaired awareness automatism seizure": "HP:0032909", + "Focal aware automatism seizure": "HP:0032910", + "Focal aware orofacial automatism seizure": "HP:0032911", + "Focal aware manual automatism seizure": "HP:0032912", + "Focal aware pedal automatism seizure": "HP:0032913", + "Focal aware perseverative automatism seizure": "HP:0032914", + "Focal aware vocal automatism seizure": "HP:0032915", + "Focal aware verbal automatism seizure": "HP:0032916", + "Focal aware sexual automatism seizure": "HP:0032917", + "Focal impaired awareness orofacial automatism seizure": "HP:0032918", + "Focal aware head nodding automatism seizure": "HP:0032919", + "Focal impaired awareness manual automatism seizure": "HP:0032920", + "Focal impaired awareness pedal automatism seizure": "HP:0032921", + "Focal impaired awareness perseverative automatism seizure": "HP:0032922", + "Focal impaired awareness vocal automatism seizure": "HP:0032923", + "Focal impaired awareness verbal automatism seizure": "HP:0032924", + "Focal impaired awareness sexual automatism seizure": "HP:0032925", + "Focal impaired awareness head nodding automatism seizure": "HP:0032926", + "Focal impaired awareness undressing automatism seizure": "HP:0032927", + "Elevated CSF neurofilament light chain concentration": "HP:0032928", + "Elevated CSF neurofilament light chain": "HP:0032928", + "Abnormal chondrocyte morphology": "HP:0032929", + "Lacunar halos around chondrocytes": "HP:0032930", + "obsolete Focal impaired awareness cognitive seizure with impaired attention": "HP:0032931", + "Increased circulating pancreatic triacylglycerol lipase level": "HP:0032932", + "Elevated circulating pancreatic triacylglycerol lipase activity": "HP:0032932", + "Airway hyperresponsiveness": "HP:0032933", + "Spontaneous cerebrospinal fluid leak": "HP:0032934", + "Posterior crocodile shagreen of the cornea": "HP:0032935", + "Intrusion symptom": "HP:0032936", + "Re-experiencing symptom": "HP:0032936", + "Recurrent, involuntary, and intrusive distressing memories": "HP:0032937", + "Recurrent trauma-related distressing dreams": "HP:0032938", + "Physiological reactivity to cues": "HP:0032939", + "Dissociation": "HP:0032940", + "Dissociative reaction": "HP:0032940", + "Intense psychological distress to cues": "HP:0032941", + "Avoidance of stimuli associated with traumatic event": "HP:0032942", + "Abnormal urine pH": "HP:0032943", + "Alkaline urine": "HP:0032944", + "Renal interstitial inflammation": "HP:0032945", + "Renal cortical interstitial inflammation": "HP:0032946", + "Renal medullary interstitial inflammation": "HP:0032947", + "Renal interstitial fibrosis": "HP:0032948", + "Renal interstitial calcium phosphate deposits": "HP:0032949", + "Abnormal renal tubular lumen morphology": "HP:0032950", + "Abnormal renal tubular luminal morphology": "HP:0032950", + "Renal tubular viral cytopathic changes": "HP:0032951", + "Usual-type tubular atrophy": "HP:0032952", + "Common-type renal tubular atrophy": "HP:0032952", + "Renal tubular cytomegalovirus inclusions": "HP:0032953", + "Renal tubular adenovirus inclusions": "HP:0032954", + "Renal tubular polyoma virus inclusions": "HP:0032955", + "Renal tubular herpes simplex virus inclusions": "HP:0032956", + "Dysmorphic hematuria": "HP:0032957", + "Acanthocyturia": "HP:0032957", + "Urinary oval fat bodies": "HP:0032958", + "Intratubular calcium oxalate casts": "HP:0032959", + "Intratubular calcium phosphate casts": "HP:0032960", + "Magnesium ammonium phosphate crystalluria": "HP:0032961", + "Struvite urinary crystals": "HP:0032961", + "Tubular microcystic change": "HP:0032962", + "Complex renal cyst": "HP:0032963", + "Uric acid crystalluria": "HP:0032964", + "Interstitial emphysema": "HP:0032965", + "Centrilobular emphysema": "HP:0032966", + "Centriacinar emphysema": "HP:0032966", + "Panacinar emphysema": "HP:0032967", + "Expiratory air trapping": "HP:0032968", + "Traction bronchiectasis": "HP:0032969", + "Traction bronchiolectasis": "HP:0032970", + "Computed tomographic halo sign": "HP:0032971", + "CT halo sign": "HP:0032971", + "Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT": "HP:0032972", + "Abnormal bronchoalveolar lavage fluid morphology": "HP:0032973", + "Abnormal cellular composition of bronchoalveolar fluid": "HP:0032974", + "Abnormal cell differential of broncho-alveolar fluid": "HP:0032974", + "Abnormal bronchoalveolar fluid protein level": "HP:0032975", + "Abnormal biochemical composition of broncho-alveolar fluid": "HP:0032975", + "Abnormal level of proteins in the broncho-alveolar fluid": "HP:0032975", + "Elevated bronchoalveolar lavage fluid lymphocyte proportion": "HP:0032976", + "Elevated bronchoalveolar lavage fluid neutrophil proportion": "HP:0032977", + "Elevated level of neutrophils in broncho-alveolar lavage fluid": "HP:0032977", + "Lipid-laden macrophages in bronchoalveolar fluid": "HP:0032978", + "Hemosiderin-laden macrophages in bronchoalveolar fluid": "HP:0032979", + "Accumulation of hemosiderin laden alveolar macrophages": "HP:0032979", + "Siderophages in bronchoalveolar fluid": "HP:0032979", + "Absent bronchoalveolar surfactant-protein C": "HP:0032980", + "Absent bronchoalveolar dimeric surfactant-protein B": "HP:0032981", + "obsolete Intraalveolar phospholipid accumulation": "HP:0032982", + "Atoll sign": "HP:0032983", + "Reversed halo sign": "HP:0032983", + "Abnormal alveolar macrophage morphology": "HP:0032984", + "Dust particle inclusion in alveolar macrophages": "HP:0032985", + "Smoker-inclusions in alveolar macrophages": "HP:0032986", + "Elevated bronchoalveolar lavage fluid eosinophil proportion": "HP:0032987", + "Persistent head lag": "HP:0032988", + "Head lag": "HP:0032988", + "Headlag": "HP:0032988", + "Delayed ability to roll over": "HP:0032989", + "Localized pulmonary hemorrhage": "HP:0032990", + "Localised pulmonary haemorrhage": "HP:0032990", + "Abnormal pulmonary fissure morphology": "HP:0032991", + "Abnormal pulmonary fissure architecture": "HP:0032992", + "Abnormal pulmonary fissure count": "HP:0032993", + "Supernumerary pulmonary fissure": "HP:0032994", + "increased pulmonary fissure count": "HP:0032994", + "Decreased pulmonary fissure count": "HP:0032995", + "Reduced pulmonary fissure count": "HP:0032995", + "Abnormal cystatin C level": "HP:0032996", + "Decreased cystatin C level": "HP:0032997", + "Increased cystatin C level": "HP:0032998", + "Increased fecal porphyrin": "HP:0032999", + "Increased faecal porphyrin": "HP:0032999", + "Subglottic laryngitis": "HP:0033000", + "Croup": "HP:0033000", + "Laryngitis": "HP:0033000", + "Pseudocroup": "HP:0033000", + "Spasmodic croup": "HP:0033000", + "Viral croup": "HP:0033000", + "Laryngeal papilloma": "HP:0033001", + "Laryngeal papillomas": "HP:0033001", + "Laryngeal papillomatosis": "HP:0033001", + "Bronchial papilloma": "HP:0033002", + "Tracheal papilloma": "HP:0033003", + "Palmar warts": "HP:0033004", + "Plantar warts": "HP:0033005", + "Diffuse alveolar damage": "HP:0033006", + "Architectural distortion of the lung": "HP:0033007", + "Increased Z-disc width": "HP:0033008", + "Increased Z-disk width": "HP:0033008", + "Widened z-discs": "HP:0033008", + "Increased fecal coproporphyrin 1": "HP:0033009", + "Elevated faecal coproporphyrin 1": "HP:0033009", + "Elevated fecal coproporphyrin 1": "HP:0033009", + "Elevated stool coproporphyrin 1": "HP:0033009", + "High faecal coproporphyrin 1": "HP:0033009", + "High fecal coproporphyrin 1": "HP:0033009", + "High stool coproporphyrin 1": "HP:0033009", + "Increased faecal coproporphyrin 1": "HP:0033009", + "Increased fecal coproporphyrin 3": "HP:0033010", + "Elevated faecal coproporphyrin 3": "HP:0033010", + "Elevated fecal coproporphyrin 3": "HP:0033010", + "Elevated stool coproporphyrin 3": "HP:0033010", + "High faecal coproporphyrin 3": "HP:0033010", + "High fecal coproporphyrin 3": "HP:0033010", + "High stool coproporphyrin 3": "HP:0033010", + "Increased faecal coproporphyrin 3": "HP:0033010", + "Platystencephaly": "HP:0033011", + "Abnormal salivary metabolite concentration": "HP:0033012", + "Abnormal salivary cortisol level": "HP:0033013", + "Decreased salivary cortisol level": "HP:0033014", + "Increased salivary cortisol level": "HP:0033015", + "Chronic decreased circulating IgD": "HP:0033016", + "Chronic decreased IgM in blood": "HP:0033016", + "Transient decreased circulating IgD": "HP:0033017", + "Transient decreased IgD in blood": "HP:0033017", + "Chronic absent circulating IgD": "HP:0033018", + "Chronic (near) absent IgM in blood": "HP:0033018", + "Male reproductive system neoplasm": "HP:0033019", + "Female reproductive system neoplasm": "HP:0033020", + "Transient decreased circulating IgE concentration": "HP:0033021", + "Transient decreased IgE in blood": "HP:0033021", + "Transient decreased circulating IgE": "HP:0033021", + "Chronic decreased circulating IgE concentration": "HP:0033022", + "Chronic decreased IgE in blood": "HP:0033022", + "Chronic decreased circulating IgE": "HP:0033022", + "Chronic absent circulating IgE": "HP:0033023", + "Chronic (near) absent IgE in blood": "HP:0033023", + "Transient decreased circulating IgA": "HP:0033024", + "Chronic absent circulating total IgG": "HP:0033025", + "Chronic (near) absent total IgG in blood": "HP:0033025", + "White oral mucosal macule": "HP:0033026", + "Retinal peau d'orange": "HP:0033027", + "Anti-U1 ribonucleoprotein antibody positivity": "HP:0033028", + "Anti-RNP-antibodies": "HP:0033028", + "Anti-U1-RNP antibody positivity": "HP:0033028", + "Anti-Scl-34 antibody positivity": "HP:0033028", + "Anti-U3 ribonucleoprotein antibody positivity": "HP:0033028", + "obsolete Anti-Jo-1 antibody positivity": "HP:0033029", + "Anti-glomerular basement membrane-antibody positivity": "HP:0033030", + "Anti-GBM-antibody positivity": "HP:0033030", + "Hyperpyrexia": "HP:0033031", + "Triggered by an abusive adult": "HP:0033032", + "Munchausen syndrome by proxy": "HP:0033032", + "Anti-MDA5 antibody positivity": "HP:0033033", + "Increased level of anti-melanoma differentiation-associated protein 5 antibodies": "HP:0033033", + "Anti-citrullinated protein antibody positivity": "HP:0033034", + "Abnormal Schwann cell morphology": "HP:0033035", + "Abnormal neurilemmal cell morphology": "HP:0033035", + "Abnormal neurilemmocyte morphology": "HP:0033035", + "Decreased nasal nitric oxide": "HP:0033036", + "Low nasal nitric oxide level": "HP:0033036", + "Migratory arthritis": "HP:0033037", + "Migratory polyarthritis": "HP:0033037", + "Anti-RNA-polymerase-III-autoantibody positivity": "HP:0033038", + "Increased circulating precipitin level": "HP:0033039", + "Increased level of antigen-precipitating IgG antibodies": "HP:0033039", + "Anti-Sm antibody positivity": "HP:0033040", + "Anti-Smith autoantibody": "HP:0033040", + "Cytokine storm": "HP:0033041", + "Hypercytokinemia": "HP:0033041", + "Abnormal chorion morphology": "HP:0033042", + "Edematous chorionic villi": "HP:0033043", + "Motor regression": "HP:0033044", + "Regression of motor skills": "HP:0033044", + "Bipedal edema": "HP:0033045", + "Bipedal oedema": "HP:0033045", + "Michaelis-Gutmann bodies": "HP:0033046", + "Malakoplakia": "HP:0033046", + "Body ache": "HP:0033047", + "Substantia nigra hypointensity on susceptibility-weighted imaging": "HP:0033048", + "Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)": "HP:0033048", + "Globus pallidus hypointensity on susceptibility-weighted imaging": "HP:0033049", + "Pharyngalgia": "HP:0033050", + "Pharyngodynia": "HP:0033050", + "Sore throat": "HP:0033050", + "Throat discomfort": "HP:0033050", + "Throat pain": "HP:0033050", + "Impaired executive functioning": "HP:0033051", + "Non-epileptic seizure": "HP:0033052", + "Functional seizure": "HP:0033052", + "Psychogenic non-epileptic seizure": "HP:0033052", + "Psychosomatic seizure": "HP:0033052", + "Pseudoseizure": "HP:0033053", + "Myoclonic tremor": "HP:0033054", + "Impaired ability to plan": "HP:0033055", + "Ineffective planning": "HP:0033055", + "Impaired ability to organize": "HP:0033056", + "Impaired ability to organise": "HP:0033056", + "Decreased circulating terminal complement component concentration": "HP:0033057", + "Decreased serum terminal complement component": "HP:0033057", + "Decreased circulating complement C7 concentration": "HP:0033058", + "Decreased serum complement C7": "HP:0033058", + "Decreased circulating complement C6 concentration": "HP:0033059", + "Decreased circulating complement C5 concentration": "HP:0033060", + "Decreased serum complement C5": "HP:0033060", + "Increased factor IX activity": "HP:0033061", + "Abnormal factor IX activity": "HP:0033062", + "Shortened sleep phase": "HP:0033063", + "Short sleep": "HP:0033063", + "Renal interstitial globotriaosylceramide inclusions": "HP:0033064", + "Mild albuminuria": "HP:0033065", + "Severe albuminuria": "HP:0033066", + "Heavy albuminuria": "HP:0033066", + "Cystine crystalluria": "HP:0033067", + "Medication crystalluria": "HP:0033068", + "Renal interstitial IgG4+ plasma cell infiltration": "HP:0033069", + "Impaired self monitoring": "HP:0033070", + "Impaired task monitoring": "HP:0033071", + "Abnormal macroscopic urine appearance": "HP:0033072", + "Urate tophus": "HP:0033073", + "Urate tophi": "HP:0033073", + "Steroid-responsive anemia": "HP:0033074", + "Prednisone-responsive anaemia": "HP:0033074", + "Prednisone-responsive anemia": "HP:0033074", + "Steroid-responsive anaemia": "HP:0033074", + "Inappropriately normal thyroid-stimulating hormone level": "HP:0033075", + "Inappropriately normal TSH": "HP:0033075", + "Abnormal circulating free T4 concentration": "HP:0033076", + "Abnormal circulating free T4 level": "HP:0033076", + "Abnormal circulating free thyroxine level": "HP:0033076", + "Increased circulating free T4 concentration": "HP:0033077", + "Increased circulating free T4 level": "HP:0033077", + "Decreased circulating free T4 concentration": "HP:0033078", + "Decreased circulating free T4 level": "HP:0033078", + "Aplasia/Hypoplasia of the thyroid gland": "HP:0033079", + "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test": "HP:0033080", + "Abnormal TSH response to TRH stimulation test": "HP:0033080", + "Absent TSH response to thyrotrophin-releasing hormone stimulation test": "HP:0033081", + "Reduced TSH response to thyrotrophin-releasing hormone stimulation test": "HP:0033082", + "Increased circulating farnesol concentration": "HP:0033083", + "Abnormal antral follicle count": "HP:0033084", + "Reduced antral follicle count": "HP:0033085", + "Increased antral follicle count": "HP:0033086", + "Quotidian fever": "HP:0033087", + "Valinuria": "HP:0033088", + "Increased valine in urine": "HP:0033088", + "Branched-chain aminoaciduria": "HP:0033089", + "Increased aromatic amino acid level in urine": "HP:0033090", + "Tyrosinuria": "HP:0033091", + "Increased tyrosine in urine": "HP:0033091", + "Increased urine succinate level": "HP:0033092", + "Increased glutamine family amino acid level in urine": "HP:0033093", + "Increased urine glutamate level": "HP:0033094", + "Increased glutamic acid in urine": "HP:0033094", + "Increased sulfur amino acid level in urine": "HP:0033095", + "Increased sulfur-containing amino acid level in urine": "HP:0033095", + "Increased sulphur amino acid level in urine": "HP:0033095", + "Increased aspartate family amino acid level in urine": "HP:0033096", + "Increased urine proteinogenic amino acid derivative level": "HP:0033097", + "Increased urinary non-proteinogenic amino acid level": "HP:0033098", + "Elevated urinary non-proteinogenic amino acid level": "HP:0033098", + "Increased serine family amino acid in urine": "HP:0033099", + "Increased proteinogenic amino acid level in urine": "HP:0033100", + "Elevated urine aconitic acid level": "HP:0033101", + "Monkey wrench femoral neck": "HP:0033102", + "Monkey wrench appearance of femoral neck": "HP:0033102", + "Monkey wrench configuration of the proximal femur": "HP:0033102", + "Swedish key appearance of femoral neck": "HP:0033102", + "Swedish key configuration of the proximal femur": "HP:0033102", + "Elevated circulating CHI3L1 level": "HP:0033103", + "Elevated circulating YKL40 level": "HP:0033103", + "Elevated circulating chitinase 3-like 1 level": "HP:0033103", + "Inappropriate absence of fever": "HP:0033104", + "Interhypothalamic adhesion": "HP:0033105", + "Hypothalamic adhesion": "HP:0033105", + "Elevated circulating D-dimer concentration": "HP:0033106", + "Elevated D-dimers": "HP:0033106", + "Elevated fibrin degradation fragment concentration": "HP:0033106", + "Abnormal circulating proteinogenic amino acid concentration": "HP:0033107", + "Abnormal circulating proteinogenic amino acid derivative concentration": "HP:0033108", + "Abnormal circulating non-proteinogenic amino acid concentration": "HP:0033109", + "Elevated circulating alpha-aminobutyric acid concentration": "HP:0033110", + "Elevated circulating homoalanine concentration": "HP:0033110", + "3-hydroxyisovaleric aciduria": "HP:0033111", + "Increased urine 3-hydroxyisovaleric acid level": "HP:0033111", + "Elevated circulating apolipoprotein C-III concentration": "HP:0033112", + "Elevated APOC3 level": "HP:0033112", + "Elevated apolipoprotein C-III level": "HP:0033112", + "Gallop rhythm": "HP:0033113", + "Triple rhythm": "HP:0033113", + "Quadruple gallop rhythm": "HP:0033114", + "Elevated circulating tenascin-C level": "HP:0033115", + "Duodenal gastric metaplasia": "HP:0033116", + "Duodenitis": "HP:0033117", + "Duodenal inflammation": "HP:0033117", + "Abnormal right ventricular function": "HP:0033118", + "Elevated right ventricular systolic pressure": "HP:0033119", + "Nummular eczema": "HP:0033120", + "Discoid eczema": "HP:0033120", + "Nummular dermatitis": "HP:0033120", + "Barking cough": "HP:0033121", + "Seal-like barking cough": "HP:0033121", + "Absent P wave": "HP:0033122", + "Absence of P wave on electrocardiography": "HP:0033122", + "Elevated circulating osteopontin level": "HP:0033123", + "Increased serum sorbitol concentration": "HP:0033124", + "Follicular lymphoma": "HP:0033125", + "Cutaneous necrosis": "HP:0033126", + "Skin necrosis": "HP:0033126", + "Abnormality of the musculoskeletal system": "HP:0033127", + "Delayed ability to crawl": "HP:0033128", + "Abnormal shoulder physiology": "HP:0033129", + "Abnormal renal echogenicity": "HP:0033130", + "Renal medullary hyperechogenicity": "HP:0033131", + "Increased renal medullary echogenicity": "HP:0033131", + "Renal cortical hyperechogenicity": "HP:0033132", + "Renal cortical hypoechogeneity": "HP:0033133", + "Hypoechogenic renal cortex": "HP:0033133", + "Abdominal adhesions": "HP:0033134", + "Intra-abdominal adhesion": "HP:0033134", + "Hepatic infarction": "HP:0033135", + "Lymph node abscess": "HP:0033136", + "Abnormal pulmonary alveolar system morphology": "HP:0033137", + "Right atrial thrombus": "HP:0033138", + "Elevated circulating uracil concentration": "HP:0033139", + "Blake's pouch cyst": "HP:0033140", + "Severe SARS-CoV-2 infection": "HP:0033141", + "Long nasal bridge": "HP:0033142", + "Jejunitis": "HP:0033143", + "Abnormal circulating ceruloplasmin concentration": "HP:0033144", + "Increased circulating ceruloplasmin concentration": "HP:0033145", + "Elevated circulating methylsuccinic acid concentration": "HP:0033146", + "Abnormal circulating short-chain fatty-acid concentration": "HP:0033147", + "Increased circulating isovaleric acid concentration": "HP:0033148", + "Increased circulating isovalerate": "HP:0033148", + "Isovalericacidemia": "HP:0033148", + "Intrahepatic bile duct dilatation": "HP:0033149", + "Dilatation of intrahepatic biliary ducts": "HP:0033149", + "Anorectal abscess": "HP:0033150", + "Abnormal pharynx morphology": "HP:0033151", + "Abnormal pharynx physiology": "HP:0033152", + "Elevated circulating dodecenoylcarnitine concentration": "HP:0033153", + "Elevated plasma dodecenoylcarnitine concentration": "HP:0033153", + "Elevated circulating deoxypyridinoline concentration": "HP:0033154", + "Elevated circulating L-alloisoleucine concentration": "HP:0033155", + "Elevated urine L-alloisoleucine level": "HP:0033156", + "Elevated circulating 3-methylhistidine concentration": "HP:0033157", + "Reduced respiratory ciliary beating frequency": "HP:0033158", + "Dminished respiratory ciliary beat frequency": "HP:0033158", + "Reduced urinary inosine level": "HP:0033159", + "Decreased urinary guanosine level": "HP:0033160", + "Abnormal urinary purine level": "HP:0033161", + "Abnormal urinary pyrimidine level": "HP:0033162", + "Small intestinal bacterial overgrowth": "HP:0033163", + "Focal active colitis": "HP:0033164", + "Necrotizing enterocolitis": "HP:0033165", + "Recurrent viral upper respiratory tract infections": "HP:0033166", + "Neutrophilic urticarial dermatosis": "HP:0033167", + "Reduced mevalonate kinase activity": "HP:0033168", + "Reduced total lung capacity": "HP:0033169", + "Reduced TLC": "HP:0033169", + "Abnormal skinfold thickness measurement": "HP:0033170", + "Abnormal triceps skinfold thickness": "HP:0033171", + "Increased triceps skinfold thickness": "HP:0033172", + "Milky appearance of bronchoalveolar lavage fluid": "HP:0033173", + "Bloody bronchoalveolar lavage fluid": "HP:0033174", + "Elevated circulating 5-oxoproline concentration": "HP:0033175", + "Elevated circulating L-pyroglutamic acid concentration": "HP:0033175", + "Submandibular lymph node enlargement": "HP:0033176", + "Submandibular lymphadenopathy": "HP:0033176", + "Elevated circulating suberic acid concentration": "HP:0033177", + "Increased circulating interleukin 8 concentration": "HP:0033178", + "Increased serum IL-8": "HP:0033178", + "Increased serum interleukin 8": "HP:0033178", + "Increased serum interleukin-8": "HP:0033178", + "Elevated circulating aconitic acid concentration": "HP:0033179", + "Torsion of appendix of testis": "HP:0033180", + "Twisted vestigial remnant of the Muellerian duct": "HP:0033180", + "Spinal epidural abscess": "HP:0033181", + "A severe pyogenic infection of the epidural space": "HP:0033181", + "Increased circulating cathepsin D level": "HP:0033182", + "Bilobed right lung": "HP:0033183", + "Triggered by infection": "HP:0033184", + "Triggered by EBV infection": "HP:0033185", + "Triggered by Epstein Barr virus infection": "HP:0033185", + "Misalignment of the pulmonary veins": "HP:0033186", + "Hyperimidodipeptiduria": "HP:0033187", + "Imidodipeptiduria": "HP:0033187", + "Cystic acne": "HP:0033188", + "Radiculomegaly": "HP:0033189", + "Long dental root": "HP:0033189", + "Rhizomegaly": "HP:0033189", + "Root gigantism": "HP:0033189", + "Hypertrichotic hyperpigmented patch": "HP:0033190", + "Cutaneous hyperpigmentation with overlying hypertrichosis": "HP:0033190", + "Increased circulating selenium concentration": "HP:0033191", + "Decreased circulating selenium concentration": "HP:0033192", + "Ballooning hepatocyte degeneration": "HP:0033193", + "Ballooning degeneration of hepatocytes": "HP:0033193", + "Perioral erythema": "HP:0033194", + "Perianal erythema": "HP:0033195", + "Portal inflammation": "HP:0033196", + "Hepatic portal inflammation": "HP:0033196", + "Hepatic lobular inflammation": "HP:0033197", + "Triggered by viral infection": "HP:0033198", + "Increased circulating interleukin 10 concentration": "HP:0033199", + "Increased serum interleukin 10": "HP:0033199", + "Triceps hyporeflexia": "HP:0033200", + "Hyporeflexia of triceps": "HP:0033200", + "Biceps hyporeflexia": "HP:0033201", + "Hyporeflexia of biceps": "HP:0033201", + "Brachioradialis hyporeflexia": "HP:0033202", + "Brachioradialis hyperreflexia": "HP:0033203", + "Triceps hyperreflexia": "HP:0033204", + "Biceps hyperreflexia": "HP:0033205", + "Hyperactive Achilles reflex": "HP:0033206", + "Hyperactive ankle jerk reflex": "HP:0033206", + "Hyperactive ankle reflex": "HP:0033206", + "Increased proportion autoreactive unresponsive CD21-/low B cells": "HP:0033207", + "Alveolar capillary dysplasia": "HP:0033208", + "Acinar dysplasia": "HP:0033209", + "Congenital alveolar dysplasia": "HP:0033210", + "Decreased total iron binding capacity": "HP:0033211", + "Abnormal total iron binding capacity": "HP:0033212", + "Elevated urine suberic acid level": "HP:0033213", + "Elevated urine octanedioic acid level": "HP:0033213", + "Recurrent viral pneumonia": "HP:0033214", + "Obliterative abnormality of the renal glomerulus": "HP:0033215", + "Glomerular hyalinosis": "HP:0033216", + "Perihilar glomerular hyalinosis": "HP:0033217", + "Glomerular hyalinosis at the tubular pole": "HP:0033218", + "Glomerular hyalinosis away from the vascular and tubular poles": "HP:0033219", + "2-ethylhydracylic aciduria": "HP:0033220", + "Elevated urinary 2-ethylhydracylic acid": "HP:0033220", + "Elevated urinary 2-methylbutyrylglycine": "HP:0033220", + "Increased CD4:CD8 ratio": "HP:0033221", + "Decreased CD4:CD8 ratio": "HP:0033222", + "Inverted CD4/CD8 ratio": "HP:0033222", + "Inverted CD4:CD8 ratio": "HP:0033222", + "Abnormal glomerular parietal epithelial cell morphology": "HP:0033223", + "Glomerular parietal epithelial cell hyperplasia": "HP:0033224", + "Hyperplasia of the glomerular parietal epithelial cell": "HP:0033224", + "Glomerular parietal epithelial cell hypertrophy": "HP:0033225", + "Hypertrophy of the glomerular parietal epithelial cell": "HP:0033225", + "Bowman capsular hyaline drops": "HP:0033226", + "Capsular hyaline drops within Bowman's capsule": "HP:0033226", + "Glomerular synechial adhesion": "HP:0033227", + "Triceps areflexia": "HP:0033228", + "Areflexia of triceps": "HP:0033228", + "Brachioradialis areflexia": "HP:0033229", + "Areflexia of brachioradialis": "HP:0033229", + "Biceps areflexia": "HP:0033230", + "Areflexia of biceps": "HP:0033230", + "Abnormal glomerular mesangial cellularity": "HP:0033231", + "Abnormal glomerular mesangial matrix morphology": "HP:0033232", + "Paramesangial deposits": "HP:0033233", + "Mesangial hyaline deposition": "HP:0033234", + "Difficulty descending stairs": "HP:0033235", + "Difficulty walking down stairs": "HP:0033235", + "Cognitive fatigue": "HP:0033236", + "Central fatigue": "HP:0033236", + "Visceral epithelial cell detachment": "HP:0033237", + "Detachment of visceral epithelial cells": "HP:0033237", + "Podocyte detachment": "HP:0033237", + "Podocyte microvillous transformation": "HP:0033238", + "Visceral epithelial cell capping": "HP:0033239", + "Podocyte cap": "HP:0033239", + "Elevated RV/TLC ratio": "HP:0033240", + "Hyperinflation on pulmonary function test": "HP:0033240", + "Overinflation on pulmonary function test": "HP:0033240", + "Polyalveolar lobe": "HP:0033241", + "Horseshoe lung": "HP:0033242", + "Pulmonary necrosis": "HP:0033243", + "Glycogen accumulation in pulmonary interstitial cells": "HP:0033244", + "Abnormal alveolar type II pneumocyte morphology": "HP:0033245", + "Abnormal alveolar epithelial type II cell morphology": "HP:0033245", + "Abnormal pulmonary type II cell morphology": "HP:0033245", + "Abnormal type II pneumocyte morphology": "HP:0033245", + "Type II pneumocyte hypertrophy": "HP:0033246", + "Hypertrophic alveolar type II cells": "HP:0033246", + "Hypertrophic alveolar type II pneumocytes": "HP:0033246", + "Pulmonary amyloidosis": "HP:0033247", + "Multiple pulmonary interstitial hyalinized nodules": "HP:0033248", + "Focal substantia nigra T2 hyperintensity": "HP:0033249", + "Focal substantia nigra T2 hyperintense lesion": "HP:0033249", + "Nailfold capillary tortuosity": "HP:0033250", + "Elevated residual volume": "HP:0033251", + "Elevated RV": "HP:0033251", + "Palmar hyperlinearity": "HP:0033252", + "Reduced circulating interferon gamma concentration": "HP:0033253", + "Reduced circulating interferon gamma": "HP:0033253", + "Anorectal stricture": "HP:0033254", + "Stricture of the anorectum": "HP:0033254", + "Congenital lobar overinflation": "HP:0033255", + "Congenital lobar emphysema": "HP:0033255", + "Pancolitis": "HP:0033256", + "Delayed ability to walk with support": "HP:0033257", + "Delayed ability to cruise": "HP:0033257", + "Sudden unexpected death in epilepsy": "HP:0033258", + "SUDEP": "HP:0033258", + "Non-motor seizure": "HP:0033259", + "Livedo racemosa": "HP:0033260", + "Renal artery aneurysm": "HP:0033261", + "Transphyseal fracture of the distal humerus": "HP:0033262", + "Transphyseal distal humerus fracture": "HP:0033262", + "Absent platelet dense granules": "HP:0033263", + "Absent platelet dense bodies": "HP:0033263", + "Enlarged platelet dense granules": "HP:0033264", + "Podocyte myelin figures": "HP:0033265", + "Podocyte myelin inclusions": "HP:0033265", + "Glomerular pseudocrescent": "HP:0033266", + "Abnormal glomerular capillary lumen morphology": "HP:0033267", + "Deflation of the glomerular tuft": "HP:0033268", + "Glomerular capillary collapse": "HP:0033269", + "Collapse of glomerular capillary walls": "HP:0033269", + "Glomerular capillary congestion": "HP:0033270", + "Glomerular congestion": "HP:0033270", + "Glomerular capillary microaneurysm": "HP:0033271", + "Abnormal glomerular endothelial cell morphology": "HP:0033272", + "Loss of glomerular endothelial cell fenestration": "HP:0033273", + "Glomerular endotheliosis": "HP:0033274", + "Glomerular endothelial tubuloreticular inclusion": "HP:0033275", + "obsolete Glomerular endocapillary hypercellularity": "HP:0033276", + "Glomerular fibrinoid necrosis": "HP:0033277", + "Reduced CD95-induced lymphocyte apoptosis": "HP:0033278", + "Enterocutaneous fistula": "HP:0033279", + "Paratracheal lymphadenopathy": "HP:0033280", + "Circulating nucleated red blood cells": "HP:0033281", + "Abnormal glomerular basement membrane morphology": "HP:0033282", + "Segmentally thickened glomerular basement membrane": "HP:0033283", + "Diffusely thickened glomerular basement membrane": "HP:0033284", + "Thickened glomerular basement membranes with no electron dense deposits": "HP:0033285", + "Thickened glomerular basement membranes with electron dense deposits": "HP:0033286", + "Glomerular basement membrane lucencies": "HP:0033287", + "Glomerular basement membrane spikes": "HP:0033288", + "Glomerular basement membrane wrinkling": "HP:0033289", + "Glomerular subendothelial widening": "HP:0033290", + "Glomerular karyhorrhectic debris": "HP:0033291", + "Glomerular fibrin thrombus": "HP:0033292", + "Glomerular hyaline pseudothrombus": "HP:0033293", + "Glomerular lipoprotein thrombus": "HP:0033294", + "Mesangial Immune complex deposition": "HP:0033295", + "Binucleated visceral epithelial cells": "HP:0033296", + "Binucleated podocytes": "HP:0033296", + "Multinucleated visceral epithelial cells": "HP:0033297", + "Multinucleated podocytes": "HP:0033297", + "Podocyte multinucleation": "HP:0033297", + "Abnormal circulating complement factor H related protein 1 concentration": "HP:0033298", + "Reduced circulating complement factor H related protein 1 concentration": "HP:0033299", + "Increased circulating complement factor H related protein 1 concentration": "HP:0033300", + "Elevated circulating 1-methylhistidine concentration": "HP:0033301", + "Elevated circulating 4-hydroxyphenylacetic acid concentration": "HP:0033302", + "Elevated urinary monocarboxylic acid level": "HP:0033303", + "obsolete Elevated urine 4-hydroxyphenylacetic acid level": "HP:0033304", + "Abnormal circulating fetuin A concentration": "HP:0033305", + "Decreased circulating fetuin A concentration": "HP:0033306", + "Increased circulating fetuin A concentration": "HP:0033307", + "Patellar overgrowth": "HP:0033308", + "Ileoileal intussusception": "HP:0033309", + "Osmotic diarrhea": "HP:0033310", + "Abdominal aortic dissection": "HP:0033311", + "Abnormal Bowman space morphology": "HP:0033312", + "Urinary space collagenization": "HP:0033313", + "Collagenization of the urinary space": "HP:0033313", + "Visceral epithelial cell hyperplasia": "HP:0033314", + "Hyperplasia of visceral epithelial cells": "HP:0033314", + "Podocyte hyperplasia": "HP:0033314", + "Visceral epithelial hyaline droplets": "HP:0033315", + "Glomerular crescent formation": "HP:0033316", + "Cellular crescent": "HP:0033317", + "Fibrocellular crescent": "HP:0033318", + "Fibrous crescent": "HP:0033319", + "Mesangial cell loss": "HP:0033320", + "Glomerular obsolescence": "HP:0033321", + "Glomerular capillary wall duplication without cellular interposition": "HP:0033322", + "Glomerular capillary wall duplication with cellular interposition": "HP:0033323", + "Elevated circulating homovanillic acid concentration": "HP:0033324", + "Elevated circulating sebacic acid concentration": "HP:0033325", + "Elevated circulating hydroxyphenlyllactic acid concentration": "HP:0033326", + "Nail psoriasis": "HP:0033327", + "Type II pneumocyte hyperplasia": "HP:0033328", + "Abnormal postural reflex": "HP:0033329", + "Abnormal postural reaction": "HP:0033329", + "Impaired neck-righting reflex": "HP:0033330", + "Acute phase response": "HP:0033331", + "Elevated circulating amyloid A concentration": "HP:0033332", + "Elevated circulating amyloid A": "HP:0033332", + "Jaw contracture": "HP:0033333", + "Abnormal embryonic development": "HP:0033334", + "Abnormal preimplantation embryonic development": "HP:0033335", + "Zygotic cleavage failure": "HP:0033336", + "Failure of zygotic cell division": "HP:0033336", + "Abnormal gametogenesis": "HP:0033337", + "Abnormal female meiosis": "HP:0033338", + "Increased circulating inosine concentration": "HP:0033339", + "Increased circulating guanosine concentration": "HP:0033340", + "Elevated circulating sitosterol concentration": "HP:0033341", + "Elevated circulating beta-sitosterol concentration": "HP:0033341", + "Anti-aquaporin 4 antibody positivity": "HP:0033342", + "Anti-AQP4 antibody positivity": "HP:0033342", + "Mucoid diarrhea": "HP:0033343", + "Mucous diarrhea": "HP:0033343", + "Mucous diarrhoea": "HP:0033343", + "Pleural cobblestoning": "HP:0033344", + "Neuralgia": "HP:0033345", + "Psychic epileptic aura": "HP:0033346", + "Psychic aura": "HP:0033346", + "Cognitive epileptic aura": "HP:0033347", + "Epileptic aura": "HP:0033348", + "Seizure cluster": "HP:0033349", + "Acute repetitive seizures": "HP:0033349", + "Crescendo seizures": "HP:0033349", + "Cyclical seizures": "HP:0033349", + "Recurrent seizures": "HP:0033349", + "Seizure flurries": "HP:0033349", + "Serial seizures": "HP:0033349", + "Elevated forced expiratory volume in one second": "HP:0033350", + "Elevated FEV1": "HP:0033350", + "Candida esophagitis": "HP:0033351", + "Esophageal candidiasis": "HP:0033351", + "Pulmonary hypertensive crisis": "HP:0033352", + "Pulmonary arterial hypertension crisis": "HP:0033352", + "Abnormal blood vessel morphology": "HP:0033353", + "Abnormal urine metabolite level": "HP:0033354", + "Increased urine deoxypyridinoline level": "HP:0033355", + "Elevated urinary DPD": "HP:0033355", + "Elevated circulating o-phosphoserine concentration": "HP:0033356", + "Limited head rotation": "HP:0033357", + "Abnormal urine osmolality": "HP:0033358", + "Hyperosthenuria": "HP:0033359", + "Elevated urine osmolality": "HP:0033359", + "Elevated urine osmolarity": "HP:0033359", + "Impaired ability to shift attention": "HP:0033360", + "Impaired task shifting": "HP:0033360", + "Nasal ulcer": "HP:0033361", + "Recurrent coughing spasms": "HP:0033362", + "Hyaline membranes": "HP:0033363", + "Lipoid pneumonia": "HP:0033364", + "Endogenous lipoid pneumonia": "HP:0033365", + "Exogenous lipoid pneumonia": "HP:0033366", + "Orthodeoxia": "HP:0033367", + "Platypnea": "HP:0033368", + "Cavitating leukodystrophy": "HP:0033369", + "Bronchial telangiectasia": "HP:0033370", + "Endobronchial telangiectasia": "HP:0033370", + "Bronchocentric granulomatosis": "HP:0033371", + "Abnormal KCO": "HP:0033372", + "Increased KCO": "HP:0033373", + "Decreased KCO": "HP:0033374", + "Anthracosis": "HP:0033375", + "Alveolar septal thickening": "HP:0033376", + "Increased airway neuroendocrine cells": "HP:0033377", + "Increased airway neuroepithelial bodies": "HP:0033378", + "Bilateral superior vena cava": "HP:0033379", + "Bilateral SVC": "HP:0033379", + "Nasal chondritis": "HP:0033380", + "Nose chondritis": "HP:0033380", + "Elevated circulating stearoylcarnitine concentration": "HP:0033381", + "Elevated circulating C18:0 acylcarnitine concentration": "HP:0033381", + "Elevated circulating palmitoylcarnitine concentration": "HP:0033382", + "Elevated circulating 16:0 acylcarnitine concentration": "HP:0033382", + "Decreased compound muscle action potential amplitude": "HP:0033383", + "Decreased CMAP amplitude": "HP:0033383", + "Elevated urinary collagen degradation products": "HP:0033384", + "Elevated urine pyridinoline level": "HP:0033385", + "Elevated urine hydroxylysyl-pyridinoline level": "HP:0033385", + "Abnormal circulating collagen degradation product concentration": "HP:0033386", + "Elevated circulating pyridinoline concentration": "HP:0033387", + "Abnormal bronchial artery morphology": "HP:0033388", + "Bronchopulmonary anastomosis": "HP:0033389", + "Bronchial artery dilatation": "HP:0033390", + "Bronchial artery enlargement": "HP:0033390", + "Dilatation of a bronchial artery": "HP:0033390", + "Bronchial artery hypertrophy": "HP:0033391", + "Perivascular pre-capillary pulmonary artery inflammation": "HP:0033392", + "Perivascular inflammation of arterioles in the pulmonary circulation": "HP:0033392", + "Perivascular inflammation of pre-capillary pulmonary arteries": "HP:0033392", + "Irregularly shaped sperm tail": "HP:0033393", + "Sperm flagella with irregular caliber": "HP:0033393", + "Sperm flagella with irregular calibre": "HP:0033393", + "Anti-carbonic anhydrase II antibody positivity": "HP:0033394", + "Antilactoferrin antibody positivity": "HP:0033395", + "Glomerular extracapillary fibrin": "HP:0033396", + "Bowman-space proteinaceous debris": "HP:0033397", + "Pleural plaque": "HP:0033398", + "Persistent fever": "HP:0033399", + "Acute abdomen": "HP:0033400", + "Acute abdominal pain": "HP:0033400", + "Tissue ischemia": "HP:0033401", + "Digital ischemia": "HP:0033402", + "Testicular ischemia": "HP:0033403", + "Intestinal ischemia": "HP:0033404", + "Abnormal circulating organic amino compound concentration": "HP:0033405", + "Elevated circulating phosphoethanolamine concentration": "HP:0033406", + "Elevated circulating o-phosphoethanolamine concentration": "HP:0033406", + "Elevated urine acetoacetic acid level": "HP:0033407", + "Elevated circulating acetoacetic acid concentration": "HP:0033408", + "Elevated urinary 2-hydroxybutyric acid": "HP:0033409", + "Elevated circulating cartilage oligomeric matrix protein concentration": "HP:0033410", + "Lower extremity akinesia": "HP:0033411", + "Upper extremity akinesia": "HP:0033412", + "Akinesia of the upper extremities": "HP:0033412", + "Upper extremity hypokinesia": "HP:0033413", + "Hypokinesia of the upper extremities": "HP:0033413", + "Lower extremity hypokinesia": "HP:0033414", + "Hypokinesia of the lower extremities": "HP:0033414", + "Cardiac tamponade": "HP:0033415", + "Hip adductor weakness": "HP:0033416", + "Elevated circulating hydroxybutyric acid concentration": "HP:0033417", + "Elevated circulating 2-hydroxybutyric acid concentration": "HP:0033418", + "Elevated circulating 3-hydroxybutyric acid concentration": "HP:0033419", + "Pulmonary arterial plexiform lesion": "HP:0033420", + "Pulmonary artery intimal thickening": "HP:0033421", + "Pulmonary artery adventitial fibrosis": "HP:0033422", + "Pulmonary arterial hypertension with positive acute response to NO challenge": "HP:0033423", + "Pulmonary arterial hypertension with lack of acute response to NO challenge": "HP:0033424", + "Periungual erythema": "HP:0033425", + "Pulmonary air embolism": "HP:0033426", + "Venous air embolism": "HP:0033426", + "Pulmonary capillary angioectasia": "HP:0033427", + "Systemic autoinflammation": "HP:0033428", + "Neuroinflammation": "HP:0033429", + "Non-infectious meningitis": "HP:0033430", + "Aseptic meningitis": "HP:0033430", + "Cytomegalovirus colitis": "HP:0033431", + "CMV colitis": "HP:0033431", + "Opportunistic viral infection": "HP:0033432", + "Ileocecal ulcer": "HP:0033433", + "Ileo-cecal ulcer": "HP:0033433", + "Nasal septum perforation": "HP:0033434", + "Nasal-septum perforation": "HP:0033434", + "Perforation of the nasal septum": "HP:0033434", + "Abnormal circulating keto acid concentration": "HP:0033435", + "Elevated circulating 3-methyl-2-oxovaleric acid concentration": "HP:0033436", + "Elevated circulating 4-methyl-2-oxopentanoic acid concentration": "HP:0033437", + "Increased circulating alpha-ketoisocaproic acid concentration": "HP:0033437", + "Elevated circulating myoglobin concentration": "HP:0033438", + "Elevated circulating decenoylcarnitine concentration": "HP:0033439", + "Elevated circulating C10:1 acylcarnitine concentration": "HP:0033439", + "Elevated circulating O-decenoylcarnitine concentration": "HP:0033439", + "Elevated plasma decenoylcarnitine, C10:1": "HP:0033439", + "Elevated circulating octenoylcarnitine concentration": "HP:0033440", + "Elevated circulating C8:1 acylcarnitine concentration": "HP:0033440", + "Elevated circulating O-octenoylcarnitine concentration": "HP:0033440", + "Elevated plasma octenoylcarnitine, C8:1": "HP:0033440", + "Elevated circulating hexanoylcarnitine concentration": "HP:0033441", + "Elevated circulating C6:0 acylcarnitine concentration": "HP:0033441", + "Elevated circulating O-hexanoylcarnitine concentration": "HP:0033441", + "Elevated plasma hexanoylcarnitine, C6:0": "HP:0033441", + "Elevated circulating glutarylcarnitine concentration": "HP:0033442", + "Elevated circulating C5-DC acylcarnitine concentration": "HP:0033442", + "Elevated circulating O-glutarylcarnitine concentration": "HP:0033442", + "Elevated plasma glutarylcarnitine, C5-DC": "HP:0033442", + "Elevated circulating propionylcarnitine concentration": "HP:0033443", + "Elevated C3 acylcarnitine": "HP:0033443", + "Elevated circulating dodecanoylcarnitine concentration": "HP:0033444", + "Elevated circulating O-dodecanoylcarnitine concentration": "HP:0033444", + "Elevated plasma dodecanoylcarnitine, C12:0": "HP:0033444", + "Reduced circulating acylcarnitine concentration": "HP:0033445", + "Elevated circulating butyrylcarnitine concentration": "HP:0033446", + "Elevated circulating O-butyrylcarnitine concentration": "HP:0033446", + "Elevated circulating isovalerylcarnitine concentration": "HP:0033447", + "Elevated circulating O-isovalerylcarnitine concentration": "HP:0033447", + "Increased mid-arm muscle circumference": "HP:0033448", + "Decreased mid-arm muscle circumference": "HP:0033449", + "Abnormal circulating prealbumin concentration": "HP:0033450", + "Increased circulating prealbumin concentration": "HP:0033451", + "obsolete Decreased circulating prealbumin concentration": "HP:0033452", + "Limited neck extension": "HP:0033453", + "Tube feeding": "HP:0033454", + "obsolete Elevated urinary dicarboxylic acid level": "HP:0033455", + "Elevated urine keto acid level": "HP:0033456", + "Elevated urine 3-methyl-2-oxovaleric acid level": "HP:0033457", + "Elevated urine 4-methyl-2-oxopentanoic acid level": "HP:0033458", + "Increased urine alpha-ketoisocaproic acid level": "HP:0033458", + "Decreased circulating apolipoprotein concentration": "HP:0033459", + "Decreased apolipoprotein level": "HP:0033459", + "Increased circulating apolipoprotein circulation": "HP:0033460", + "Elevated circulating 3-hydroxylinoleylcarnitine concentration": "HP:0033461", + "Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH": "HP:0033461", + "Elevated circulating oleylcarnitine concentration": "HP:0033462", + "Elevated circulating C18:1 acylcarnitine concentration": "HP:0033462", + "Elevated plasma oleylcarnitine, C18:1": "HP:0033462", + "obsolete Elevated circulating palmitoleylcarnitine concentration": "HP:0033463", + "Elevated circulating 3-hydroxypalmitoleylcarnitine concentration": "HP:0033464", + "Elevated circulating 3-OH-palmitoleylcarnitine concentration": "HP:0033464", + "Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH": "HP:0033464", + "Elevated circulating tetradecanoylcarnitine concentration": "HP:0033465", + "Elevated circulating C14 carnitine concentration": "HP:0033465", + "Elevated circulating myristoylcarnitine concentration": "HP:0033465", + "Weak grip": "HP:0033466", + "Low 10-minute APGAR score": "HP:0033467", + "10-minute APGAR score of 0": "HP:0033468", + "10-minute APGAR score of 1": "HP:0033469", + "10-minute APGAR score of 2": "HP:0033470", + "10-minute APGAR score of 3": "HP:0033471", + "10-minute APGAR score of 4": "HP:0033472", + "10-minute APGAR score of 5": "HP:0033473", + "10-minute APGAR score of 6": "HP:0033474", + "Limited shoulder abduction": "HP:0033475", + "Extractable nuclear antigen positivity": "HP:0033476", + "Abnormal circulating lipoprotein lipase concentration": "HP:0033477", + "Increased circulating lipoprotein lipase concentration": "HP:0033478", + "Elevated lipoprotein lipase level": "HP:0033478", + "Abnormal circulating bilirubin concentration": "HP:0033479", + "Hypobilirubinemia": "HP:0033480", + "Limited lateral neck flexion": "HP:0033481", + "Limited shoulder flexion": "HP:0033482", + "Podocyte infolding": "HP:0033483", + "Elevated circulating linoleylcarnitine concentration": "HP:0033484", + "Elevated circulating C18:2 acylcarnitine concentration": "HP:0033484", + "Elevated plasma linoleylcarnitine, C18:2": "HP:0033484", + "Glomerular basement membrane disruption": "HP:0033485", + "Disruption of the glomerular basement membrane": "HP:0033485", + "Glomerular basement membrane rupture": "HP:0033485", + "Abnormal glomerular basement membrane texture": "HP:0033486", + "Glomerular basement membranes powdery deposit": "HP:0033487", + "Glomerular basement membranes with powdery deposit": "HP:0033487", + "Glomerular endocapillary leukocyte hypercellularity": "HP:0033488", + "Glomerular endocapillary hypercellularity consisting of leukocytes": "HP:0033488", + "Glomerular endocapillary neutrophil hypercellularity": "HP:0033489", + "Glomerular endocapillary foam-cell hypercellularity": "HP:0033490", + "Global mesangial sclerosis": "HP:0033491", + "Podocyte cytoskeletal condensation": "HP:0033492", + "Mesangial matrix expansion": "HP:0033493", + "Increased glomerular mesangial matrix": "HP:0033493", + "Glomerular basement membrane amyloid spicule": "HP:0033494", + "Segmental glomerulosclerosis": "HP:0033495", + "Perihilar segmental glomerulosclerosis": "HP:0033496", + "Segmental glomerulosclerosis, perihilar pattern": "HP:0033496", + "Tip variant segmental glomerulosclerosis": "HP:0033497", + "Segmental glomerulosclerosis, tip variant": "HP:0033497", + "Segmental glomerulosclerosis away from the vascular and tubular poles": "HP:0033498", + "Glomerular basement membrane electron dense deposits": "HP:0033499", + "Subendothelial glomerular basement membrane electron dense deposits": "HP:0033500", + "Subepithelial glomerular basement membrane electron dense deposits": "HP:0033501", + "Abnormal esterified to free carnitine ratio": "HP:0033502", + "Elevated CSF fumarate concentration": "HP:0033503", + "Elevated circulating fumarate concentration": "HP:0033504", + "Livedo reticularis": "HP:0033505", + "Increased esterified to free carnitine ratio": "HP:0033506", + "Decreased esterified to free carnitine ratio": "HP:0033507", + "EBV meningitis": "HP:0033508", + "Epstein-Barr virus meningitis": "HP:0033508", + "EBV encephalitis": "HP:0033509", + "Epstein-Barr virus encephalitis": "HP:0033509", + "Cutaneous horn": "HP:0033510", + "Cornu cutaneum": "HP:0033510", + "Addictive substance use": "HP:0033511", + "Addictive drug use": "HP:0033511", + "Drug addiction": "HP:0033511", + "Addictive stimulant use": "HP:0033512", + "Stimulant addiction": "HP:0033512", + "Stimulant dependence": "HP:0033512", + "Addictive cocaine use": "HP:0033513", + "Cocaine addiction": "HP:0033513", + "Cocaine dependence": "HP:0033513", + "Addictive amphetamine use": "HP:0033514", + "Amphetamine addiction": "HP:0033514", + "Amphetamine dependence": "HP:0033514", + "Dextroamphetamine addiction": "HP:0033514", + "Dextroamphetamine dependence": "HP:0033514", + "Addictive opioid use": "HP:0033515", + "Opioid addiction": "HP:0033515", + "Opioid dependence": "HP:0033515", + "Addictive benzodiazepine use": "HP:0033516", + "Benzodiazepine dependence": "HP:0033516", + "Addictive heroin use": "HP:0033517", + "Heroin addiction": "HP:0033517", + "Heroin dependence": "HP:0033517", + "Addictive methylphenidate use": "HP:0033518", + "Methylphenidate addiction": "HP:0033518", + "Methylphenidate dependence": "HP:0033518", + "Addictive methamphetamine use": "HP:0033519", + "Methamphetamine addiction": "HP:0033519", + "Methamphetamine dependence": "HP:0033519", + "Paradoxical embolism": "HP:0033520", + "Nasal dryness": "HP:0033521", + "Cerebral cavernous malformation": "HP:0033522", + "Abnormal sperm principal piece morphology": "HP:0033523", + "Abnormal sperm axoneme morphology": "HP:0033524", + "Absent sperm axoneme central pair complex": "HP:0033525", + "Absent central pair complex (9+0 pattern)": "HP:0033525", + "Limited ankle dorsiflexion": "HP:0033526", + "Heel cord tightness": "HP:0033526", + "Tight heel cord": "HP:0033526", + "Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio": "HP:0033527", + "Decreased plasma testosterone-to-androstenedione ratio": "HP:0033527", + "Abnormal cardiac output": "HP:0033528", + "Abnormal cardiac index": "HP:0033529", + "Increased cardiac index": "HP:0033530", + "Decreased cardiac index": "HP:0033531", + "Decreased cardiac output": "HP:0033532", + "Increased cardiac output": "HP:0033533", + "Increased circulating brain natriuretic peptide concentration": "HP:0033534", + "Elevated circulating BNP concentration": "HP:0033534", + "Increased B-type natriuretic peptide": "HP:0033534", + "Increased ventricular natriuretic peptide": "HP:0033534", + "Reduced platelet dense granules": "HP:0033535", + "Reduced platelet alpha granules": "HP:0033536", + "Mosaic pulmonary attenuation pattern": "HP:0033537", + "Aortic annulus calcification": "HP:0033538", + "Aortic annular calcification": "HP:0033538", + "Bilateral apical pulmonary fibrosis": "HP:0033539", + "Reversible airflow obstruction": "HP:0033540", + "Reversible pulmonary obstruction": "HP:0033540", + "Irreversible airflow obstruction": "HP:0033541", + "Irreversible pulmonary obstruction": "HP:0033541", + "Bronchial wall thickening": "HP:0033542", + "Peribronchial cuffing": "HP:0033542", + "Peribronchial thickening": "HP:0033542", + "Addictive nicotine use": "HP:0033543", + "Addictive tobacco use": "HP:0033543", + "Nicotine dependence": "HP:0033543", + "Mesangial fibril deposition": "HP:0033544", + "Mesangial fibrillary deposits": "HP:0033545", + "Mesangial microfibril deposition": "HP:0033546", + "Mesangial immunotactoid deposits": "HP:0033547", + "Mesangial amyloid deposition": "HP:0033548", + "Nodular mesangiosclerosis": "HP:0033549", + "Necrotizing pulmonary granulomatosis": "HP:0033550", + "Caseating pulmonary granulomatosis": "HP:0033550", + "Non-necrotizing pulmonary granulomatosis": "HP:0033551", + "Non-caseating pulmonary granulomatosis": "HP:0033551", + "Chronic villitis": "HP:0033552", + "Chronic villitis (non-infectious)": "HP:0033552", + "Nonspecific chronic villitis": "HP:0033552", + "Villitis of unknown aetiology": "HP:0033552", + "Villitis of unknown etiology": "HP:0033552", + "Septic embolism": "HP:0033553", + "Septic emboli": "HP:0033553", + "Anti-Mi2 antibody positivity": "HP:0033554", + "Anti-Ro/SS-A antibody positivity": "HP:0033555", + "Anti-Ro/SSA antibody positivity": "HP:0033555", + "Anti-nucleoporin 62 antibody positivity": "HP:0033556", + "Anti-p62 antibody positivity": "HP:0033556", + "Anti-proteinase 3 antibody positivity": "HP:0033557", + "Anti-PR3 antibody positivity": "HP:0033557", + "Anti-histone antibody positivity": "HP:0033558", + "Anti-myeloperoxidase antibody positivity": "HP:0033559", + "Anti-MPO antibody positivity": "HP:0033559", + "Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody": "HP:0033559", + "MPO-ANCA": "HP:0033559", + "Anti-PM-Scl antibody positivity": "HP:0033560", + "Anti-PM/Scl antibody positivity": "HP:0033560", + "Anti-bactericidal/permeability-increasing protein antibody positivity": "HP:0033561", + "Anti-BPI antibody positivity": "HP:0033561", + "Anti-glycoprotein-210 antibody positivity": "HP:0033562", + "Anti-gp210 antibody positivity": "HP:0033562", + "Anti-tissue transglutaminase antibody positivity": "HP:0033563", + "Anti-tTG antibody positivity": "HP:0033563", + "Stasis dermatitis": "HP:0033564", + "Varicose eczema": "HP:0033564", + "Venous eczema": "HP:0033564", + "Anti-epidermal transglutaminase antibody positivity": "HP:0033565", + "Anti-TG3 antibody": "HP:0033565", + "Anti-eTG antibody positivity": "HP:0033565", + "Anti-epidermal transglutaminase (anti-eTG) antibody": "HP:0033565", + "Anti-keratinocyte transglutaminase": "HP:0033565", + "Abnormal ventricular axis": "HP:0033566", + "Abnormal QRS axis": "HP:0033566", + "Right axis deviation": "HP:0033567", + "Electrical right axis deviation": "HP:0033567", + "RAD": "HP:0033567", + "Left axis deviation": "HP:0033568", + "Electrical left axis deviation": "HP:0033568", + "Extreme axis deviation": "HP:0033569", + "Indeterminate ventricular axis": "HP:0033570", + "Peripheral lung neovascularity": "HP:0033571", + "Anti-H1 antibody positivity": "HP:0033572", + "Anti-H4 antibody positivity": "HP:0033573", + "Anti-H3 antibody positivity": "HP:0033574", + "Anti-H2A antibody positivity": "HP:0033575", + "Anti-H2B antibody positivity": "HP:0033576", + "In situ pulmonary artery thrombosis": "HP:0033577", + "Pre-capillary pulmonary hypertension": "HP:0033578", + "Precapillary pulmonary hypertension": "HP:0033578", + "Decreased growth hormone responses to growth hormone-releasing hormone challenge": "HP:0033579", + "Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge": "HP:0033579", + "Compound motor action potential abnormality": "HP:0033580", + "Absent peripheral lymph nodes in presence of infection": "HP:0033581", + "Pulmonary interstitial lymphocyte infiltration": "HP:0033582", + "Follicular bronchiolitis": "HP:0033583", + "Nonspecific interstitial pneumonia": "HP:0033584", + "NSIP": "HP:0033584", + "Nonspecific interstitial pneumonitis": "HP:0033584", + "Temporally uniform pulmonary inflammation": "HP:0033584", + "Fibrotic non-specific interstitial pneumonia": "HP:0033585", + "Cellular non-specific interstitial pneumonia": "HP:0033586", + "Vulvar abscess": "HP:0033587", + "Labial adhesion": "HP:0033588", + "Labial agglutination": "HP:0033588", + "Synechia vulvae": "HP:0033588", + "Flatulence": "HP:0033589", + "Inguinal abscess": "HP:0033590", + "Groin abscess": "HP:0033590", + "Staghorn calculus": "HP:0033591", + "Staghorn renal stone": "HP:0033591", + "Anti-H3-H4 antibody positivity": "HP:0033592", + "Anti-H2A-H2B antibody positivity": "HP:0033593", + "Elevated urinary 7-biopterin level": "HP:0033594", + "Primapterinuria": "HP:0033594", + "Elevated circulating globotriaosylceramide concentration": "HP:0033595", + "Elevated circulating ceramidetrihexoside concentration": "HP:0033595", + "Elevated urinary 3-methylcrotonylglycine level": "HP:0033596", + "Decreased mucosal sucrase-isomaltase activity": "HP:0033597", + "Fibrillar glomerular subepithelial deposits": "HP:0033598", + "Glomerular amyloid subepithelial deposits": "HP:0033599", + "Fibrillary glomerular subepithelial deposits": "HP:0033600", + "Glomerular subepithelial immune-complex deposits": "HP:0033601", + "Glomerular hyaline subepithelial deposits": "HP:0033602", + "Glomerular subepithelial deposits": "HP:0033603", + "Glomerular capillary wire loop deposits": "HP:0033604", + "Pustular rash": "HP:0033605", + "Pustulosis": "HP:0033605", + "Bone marrow maturation arrest": "HP:0033606", + "Haematopoietic maturation arrest": "HP:0033606", + "Hematopoietic maturation arrest": "HP:0033606", + "Bone marrow arrest at the promyelocytic stage": "HP:0033607", + "Pulmonary nodule": "HP:0033608", + "Spot on the lung": "HP:0033608", + "Solid pulmonary nodule": "HP:0033609", + "Subsolid pulmonary nodule": "HP:0033610", + "Part-solid pulmonary nodule": "HP:0033611", + "Pure ground-glass pulmonary nodule": "HP:0033612", + "Perifissural pulmonary nodule": "HP:0033613", + "Tracheal bronchus": "HP:0033614", + "Displaced tracheal bronchus": "HP:0033615", + "Accessory cardiac bronchus": "HP:0033616", + "Supernumerary tracheal bronchus": "HP:0033617", + "Displaced lobar tracheal bronchus": "HP:0033618", + "Bronchus suis": "HP:0033618", + "Pig bronchus": "HP:0033618", + "Typical perifissural nodule": "HP:0033619", + "Atypical perifissural nodule": "HP:0033620", + "Bronchial diverticula": "HP:0033621", + "Migratory erythematous plaque": "HP:0033622", + "Birth history": "HP:0033623", + "History of congenital CMV infection": "HP:0033624", + "History of congenital cytomegalovirus infection": "HP:0033624", + "Emotional insecurity": "HP:0033625", + "Increased non-HDL cholesterol concentration": "HP:0033626", + "Elevated non-HDL cholesterol concentration": "HP:0033626", + "Increased urine harderoporphyrin level": "HP:0033627", + "Bowel irritability": "HP:0033628", + "IgG4 autoimmune antibody positivity": "HP:0033629", + "Brain fog": "HP:0033630", + "Mental clouding": "HP:0033630", + "Mental fatigue": "HP:0033630", + "Mental fog": "HP:0033630", + "Spondylitis": "HP:0033631", + "Abnormal alveolar volume": "HP:0033632", + "Decreased alveolar volume": "HP:0033633", + "Increased alveolar volume": "HP:0033634", + "Post-capillary pulmonary hypertension": "HP:0033635", + "Postcapillary pulmonary hypertension": "HP:0033635", + "Combined pre- and post-capillary pulmonary hypertension": "HP:0033636", + "Anti-endomysial antibody positivity": "HP:0033637", + "Anti-transglutaminase 2 antibody positivity": "HP:0033637", + "Intralobular septal thickening": "HP:0033638", + "Intralobular lines": "HP:0033638", + "Septic pulmonary embolism": "HP:0033639", + "Septic pulmonary emboli": "HP:0033639", + "Acetabular erosions": "HP:0033640", + "Aortic valve leaflet calcification": "HP:0033641", + "Aortic cusp calcification": "HP:0033641", + "Aortic valve cusp calcification": "HP:0033641", + "Mitral valve leaflet calcification": "HP:0033642", + "Increased circulating very long-chain fatty acid concentration": "HP:0033643", + "Increased plasma levels of very long-chain fatty acid": "HP:0033643", + "Elevated circulating erythropoietin concentration": "HP:0033644", + "Elevated circulating erythropoietin": "HP:0033644", + "Midline brainstem cleft": "HP:0033645", + "Absent hippocampal commissure": "HP:0033646", + "Agenesis of the hippocampal commissure": "HP:0033646", + "Silhouette sign": "HP:0033647", + "Pulmonary pseudocavity": "HP:0033648", + "Paraseptal emphysema": "HP:0033649", + "Distal acinar emphysema": "HP:0033649", + "Pulmonary parenchymal band": "HP:0033650", + "Pulmonary mycetoma": "HP:0033651", + "Lung fungus ball": "HP:0033651", + "Broncholith": "HP:0033652", + "Bronchocele": "HP:0033653", + "Beaded septum sign": "HP:0033654", + "Pulmonary cavity": "HP:0033655", + "Pulmonary cavern": "HP:0033655", + "Pulmonary cavitation": "HP:0033655", + "Juxtaphrenic peak": "HP:0033656", + "Linear atelectasis": "HP:0033657", + "Discoid atelectasis": "HP:0033657", + "Platelike atelectasis": "HP:0033657", + "Rounded atelectasis": "HP:0033658", + "Blesovsky syndrome": "HP:0033658", + "Comet tail sign": "HP:0033658", + "Folded lung syndrome": "HP:0033658", + "Helical atelectasis": "HP:0033658", + "Pleural pseudotumor": "HP:0033658", + "Pleuroma": "HP:0033658", + "obsolete Crazy-paving pattern": "HP:0033659", + "Hand paresthesia": "HP:0033660", + "Hand tingling": "HP:0033660", + "Air crescent": "HP:0033661", + "Air bronchogram": "HP:0033662", + "Air trapping": "HP:0033663", + "Ganglioglioma": "HP:0033664", + "Diminished health-related quality of life": "HP:0033665", + "Diminished physical functioning": "HP:0033666", + "Decline in physical functional health": "HP:0033666", + "Diminished physical health": "HP:0033666", + "Diminished mental health": "HP:0033667", + "Mental impairment": "HP:0033667", + "Reduced mental health": "HP:0033667", + "Abnormal amygdala morphology": "HP:0033668", + "Abnormal morphology of the amygdala": "HP:0033668", + "Enlarged amygdala": "HP:0033669", + "Amygdalar enlargement": "HP:0033669", + "Organizing pneumonia": "HP:0033670", + "Pulmonary oligemia": "HP:0033671", + "Positive carpal Tinel sign": "HP:0033672", + "Positive carpal Hoffmann Tinel sign": "HP:0033672", + "Positive Phalen test": "HP:0033673", + "Phalen maneuver": "HP:0033673", + "Phalen manoeuvre": "HP:0033673", + "Pulmonary blood flow redistribution": "HP:0033674", + "Frailty": "HP:0033675", + "Posttraumatic stress symptom": "HP:0033676", + "PTSD": "HP:0033676", + "Acute respiratory distress syndrome": "HP:0033677", + "ARDS": "HP:0033677", + "Acute coronary syndrome": "HP:0033678", + "Abnormal red nucleus morphology": "HP:0033679", + "Pilocytic astrocytoma": "HP:0033680", + "Oligodendroglioma": "HP:0033681", + "Pleomorphic xanthoastrocytoma": "HP:0033682", + "Jaw hyperreflexia": "HP:0033683", + "Brisk jaw jerk": "HP:0033683", + "Abnormal muscle fiber-type distribution": "HP:0033684", + "Fiber type grouping": "HP:0033685", + "Fibre type grouping": "HP:0033685", + "Mitochondrial hypertrophy": "HP:0033686", + "Megamitochondria": "HP:0033686", + "Short term memory impairment": "HP:0033687", + "Short term memory loss": "HP:0033687", + "Long term memory impairment": "HP:0033688", + "Long term memory loss": "HP:0033688", + "Anterograde memory impairment": "HP:0033689", + "Anterograde amnesia": "HP:0033689", + "Retrograde memory impairment": "HP:0033690", + "Retrograde amnesia": "HP:0033690", + "Procedural memory loss": "HP:0033691", + "Impaired procedural memory": "HP:0033691", + "Procedural memory deficit": "HP:0033691", + "Declarative memory loss": "HP:0033692", + "Impaired declarative memory": "HP:0033692", + "Phantosmia": "HP:0033693", + "Phantom odor": "HP:0033693", + "Phantom odour": "HP:0033693", + "Phantom smell": "HP:0033693", + "Tactile hallucination": "HP:0033694", + "Tactile hallucinations": "HP:0033694", + "Occupational disability": "HP:0033695", + "Pseudo-chilblain": "HP:0033696", + "Chilblain-like lesion": "HP:0033696", + "Vesicular eruption": "HP:0033697", + "Monomorphic vesicular eruption": "HP:0033698", + "Polymorphic vesicular eruption": "HP:0033699", + "Papulovesicular eruption": "HP:0033700", + "Papulo-vesicular eruption": "HP:0033700", + "Cortical sclerosis of the iliac wing": "HP:0033701", + "Subpleural curvilinear line": "HP:0033702", + "Dysembryoplastic neuroepithelial tumor": "HP:0033703", + "DNET": "HP:0033703", + "DNT": "HP:0033703", + "Elevated urinary homogentisic acid": "HP:0033704", + "Tearfulness": "HP:0033705", + "Crying episodes": "HP:0033705", + "Progressive massive fibrosis": "HP:0033706", + "Perioral hyperkeratosis": "HP:0033707", + "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity": "HP:0033708", + "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies": "HP:0033708", + "Anti-HMGCR autoantibodies": "HP:0033708", + "Increased sputum production": "HP:0033709", + "Increased phlegm": "HP:0033709", + "Rest dyspnea": "HP:0033710", + "Breathlessness at rest": "HP:0033710", + "Dyspnea at rest": "HP:0033710", + "Dyspnoea at rest": "HP:0033710", + "Shortness of breath at rest": "HP:0033710", + "Pulmonary interstitial thickening": "HP:0033711", + "Repeated implantation failure": "HP:0033712", + "Recurrent implantation failure": "HP:0033712", + "Anti-signal recognition particle antibody positivity": "HP:0033713", + "Anti-SRP antibody positivity": "HP:0033713", + "Multiple meningiomas": "HP:0033714", + "Multifocal meningiomata": "HP:0033714", + "Multiple meningiomata": "HP:0033714", + "Hippocampal sclerosis": "HP:0033715", + "Mesial temporal sclerosis": "HP:0033715", + "EEG with frontal epileptiform discharges": "HP:0033716", + "EEG with temporal epileptiform discharges": "HP:0033717", + "EEG with central epileptiform discharges": "HP:0033718", + "EEG with parietal epileptiform discharges": "HP:0033719", + "EEG with occipital epileptiform discharges": "HP:0033720", + "EEG with centrotemporal epileptiform discharges": "HP:0033721", + "Autonomic epileptic aura": "HP:0033722", + "Autonomic aura": "HP:0033722", + "Autonomic auras": "HP:0033722", + "Vegetative aura": "HP:0033722", + "Abnormal cerebral venous sinus morphology": "HP:0033723", + "Abnormal dural venous sinus morphology": "HP:0033723", + "Abnormality of the cerebral venous sinuses": "HP:0033723", + "Cerebral venous sinus thrombosis": "HP:0033724", + "Thin corpus callosum": "HP:0033725", + "Small corpus callosum": "HP:0033725", + "Thinning of the corpus callosum": "HP:0033725", + "Lupus nephritis": "HP:0033726", + "Diffuse lupus nephritis": "HP:0033727", + "Class IV lupus nephritis": "HP:0033727", + "Mesangial proliferative lupus nephritis": "HP:0033728", + "Class II lupus nephritis": "HP:0033728", + "Minimal mesangial lupus nephritis": "HP:0033729", + "Class I lupus nephritis": "HP:0033729", + "Membranous lupus nephritis": "HP:0033730", + "Class V lupus nephritis": "HP:0033730", + "Focal lupus nephritis": "HP:0033731", + "Class III lupus nephritis": "HP:0033731", + "Advanced sclerotic lupus nephritis": "HP:0033732", + "Class VI lupus nephritis": "HP:0033732", + "Low-grade vesicoureteral reflux": "HP:0033733", + "High-grade vesicoureteral reflux": "HP:0033734", + "Grade I vesicoureteral reflux": "HP:0033735", + "Grade I VUR": "HP:0033735", + "VUR I": "HP:0033735", + "Grade II vesicoureteral reflux": "HP:0033736", + "Grade II VUR": "HP:0033736", + "VUR II": "HP:0033736", + "Grade III vesicoureteral reflux": "HP:0033737", + "Grade III VUR": "HP:0033737", + "VUR III": "HP:0033737", + "Primary vesicoureteral reflux": "HP:0033738", + "Secondary vesicoureteral reflux": "HP:0033739", + "Grade V vesicoureteral reflux": "HP:0033740", + "Grade V VUR": "HP:0033740", + "VUR V": "HP:0033740", + "Grade IV vesicoureteral reflux": "HP:0033741", + "Grade IV VUR": "HP:0033741", + "VUR IV": "HP:0033741", + "Intrarenal reflux": "HP:0033742", + "Macular agenesis": "HP:0033743", + "Global cerebellar dysplasia": "HP:0033744", + "Dysplasia of the superior cerebellar vermis": "HP:0033745", + "Intrascapular pain": "HP:0033746", + "Pain between shoulder blades": "HP:0033746", + "Abnormal exteroceptive sensation": "HP:0033747", + "Hypoesthesia": "HP:0033748", + "Hypoaesthesia": "HP:0033748", + "Numbness": "HP:0033748", + "Abnormal functional residual capacity": "HP:0033749", + "Reduced functional residual capacity": "HP:0033750", + "Elevated functional residual capacity": "HP:0033751", + "Abnormal residual volume": "HP:0033752", + "Reduced residual volume": "HP:0033753", + "Abnormal left ventricular end-diastolic volume": "HP:0033754", + "Increased left ventricular end-diastolic volume": "HP:0033755", + "Decreased left ventricular end-diastolic volume": "HP:0033756", + "Pancreatic steatosis": "HP:0033757", + "Fatty pancreas": "HP:0033757", + "Non-alcoholic fatty pancreatic disease": "HP:0033757", + "Pancreatic fatty infiltration": "HP:0033757", + "Pancreatic fatty replacement": "HP:0033757", + "Pancreatic lipomatosis": "HP:0033757", + "Pancreatic lipomatous pseudohypertrophy": "HP:0033757", + "Labial abscess": "HP:0033758", + "Abscess of the labia": "HP:0033758", + "Impaired renal tubular reabsorption of magnesium": "HP:0033759", + "Decreased maximal oxygen uptake": "HP:0033760", + "Xanthogranulomatous pyelonephritis": "HP:0033761", + "Middle cerebral artery stroke": "HP:0033762", + "Death in adulthood": "HP:0033763", + "Death in middle age": "HP:0033764", + "Death in late adulthood": "HP:0033765", + "Polymelia": "HP:0033766", + "Abnormal single motor unit action potential": "HP:0033767", + "Penile thrush": "HP:0033768", + "Penile candidiasis": "HP:0033768", + "Fundic gland polyposis": "HP:0033769", + "Fundic gland polyps": "HP:0033769", + "Gastric polyposis": "HP:0033769", + "Proximal polyposis of the stomach": "HP:0033769", + "Gastric adenocarcinoma": "HP:0033770", + "Pleuritic chest pain": "HP:0033771", + "Abnormal RV/TLC ratio": "HP:0033772", + "Decreased RV/TLC ratio": "HP:0033773", + "Impaired renal tubular reabsorption of uric acid": "HP:0033774", + "Pulmonary imaging sign": "HP:0033775", + "Enamel pearls": "HP:0033776", + "Supernumerary cusp": "HP:0033777", + "Additional cusp": "HP:0033777", + "Extra cusp": "HP:0033777", + "Leung cusp": "HP:0033778", + "Barrel-shaped tooth": "HP:0033779", + "Bulbous tooth": "HP:0033780", + "Tapered tooth": "HP:0033781", + "Semilunar tooth": "HP:0033782", + "Crescent-shape tooth": "HP:0033782", + "Hutchinson incisor": "HP:0033782", + "Semicircular tooth": "HP:0033782", + "Tooth, semilunar": "HP:0033782", + "Molar incisor malformation": "HP:0033783", + "Dentin dysplasia": "HP:0033784", + "Enamel agenesis": "HP:0033785", + "Hypomature enamel": "HP:0033786", + "Enamel opacity": "HP:0033786", + "Cementum hypoplasia": "HP:0033787", + "Cementum aplasia": "HP:0033787", + "Cementum overgrowth": "HP:0033788", + "Cementation hyperplasia": "HP:0033788", + "Cementum hypertrophy": "HP:0033788", + "Cementum overdeveloped": "HP:0033788", + "Drumstick-shaped root": "HP:0033788", + "Hypercementosis": "HP:0033788", + "Triggered by cheese ingestion": "HP:0033789", + "Thistle tube shaped pulp": "HP:0033790", + "Flame-shaped pulp": "HP:0033790", + "Tooth ankylosis": "HP:0033791", + "Cross bite": "HP:0033792", + "Triggered by food ingestion": "HP:0033793", + "Acral overgrowth": "HP:0033794", + "Acral enlargement": "HP:0033794", + "Acral hypertrophy": "HP:0033794", + "Acromegalic growth": "HP:0033794", + "Acromegaly": "HP:0033794", + "Growth without growth hormone": "HP:0033795", + "Abnormal leukocyte physiology": "HP:0033796", + "Leukocyte migration defect": "HP:0033797", + "Abnormal leukocyte migration": "HP:0033797", + "Defects of leukocyte migration": "HP:0033797", + "Impaired leukocyte adhesion": "HP:0033798", + "Abnormal circulating sex hormone concentration": "HP:0033799", + "Abnormal circulating gonadal steroid concentration": "HP:0033799", + "Abnormal circulating gonadocorticoid concentration": "HP:0033799", + "Abnormal circulating sex steroid concentration": "HP:0033799", + "Blistering by anatomical location": "HP:0033800", + "Blistering by histological location": "HP:0033801", + "Intra-epidermal blistering": "HP:0033802", + "Sub-lamina densa cleavage": "HP:0033803", + "Blistering with sub-lamina densa plane of cleavage": "HP:0033803", + "Subepidermal blistering": "HP:0033804", + "Non-necrotizing granuloma": "HP:0033805", + "Abnormal epidermis stratum granulosum morphology": "HP:0033806", + "Absent keratohyalin granules": "HP:0033807", + "Spermatocele": "HP:0033808", + "Increased circulating 17 hydroxypregnenolone concentration": "HP:0033809", + "Decreased circulating dihydrotestosterone concentration": "HP:0033810", + "Abnormal circulating androstenedione concentration": "HP:0033811", + "Decreased circulating androstenedione concentration": "HP:0033812", + "Perilobular": "HP:0033813", + "Paraseptal": "HP:0033814", + "Bronchocentric": "HP:0033815", + "Centrilobular": "HP:0033816", + "Miliary": "HP:0033817", + "Reticular": "HP:0033818", + "Perilymphatic": "HP:0033819", + "Apical": "HP:0033820", + "Pulmonary mass": "HP:0033821", + "Mass on thoracic imaging": "HP:0033822", + "Mediastinal mass": "HP:0033823", + "Pleural mass": "HP:0033824", + "Superior mediastinal mass": "HP:0033825", + "Inferior mediastinal mass": "HP:0033826", + "Anterior mediastinal mass": "HP:0033827", + "Middle mediastinal mass": "HP:0033828", + "Posterior mediastinal mass": "HP:0033829", + "Hyperdense pulmonary mass": "HP:0033830", + "Cavitating pulmonary mass": "HP:0033831", + "Livedo": "HP:0033832", + "Livedoid dermatitis": "HP:0033832", + "Elevated circulating soluble CD25 concentration": "HP:0033833", + "Elevated circulating interleukin-2 receptor alpha-chain": "HP:0033833", + "Malaise": "HP:0033834", + "Abnormal renal vascular morphology": "HP:0033835", + "Abnormal intrarenal artery morphology": "HP:0033836", + "Abnormal kidney arterial blood vessel morphology": "HP:0033836", + "Abnormal arcuate artery morphology": "HP:0033837", + "Abnormalities of arcuate arteries": "HP:0033837", + "Dysphoria": "HP:0033838", + "Dysphoric mood": "HP:0033838", + "Testicular pain": "HP:0033839", + "Pain in testicles": "HP:0033839", + "Postmenopausal bleeding": "HP:0033840", + "Ocular pruritus": "HP:0033841", + "Itchy eyes": "HP:0033841", + "Ocular itch": "HP:0033841", + "Early satiety": "HP:0033842", + "Feeling full quickly when eating": "HP:0033842", + "Not able to finish a normal-sized meal": "HP:0033842", + "Postprandial fullness": "HP:0033843", + "Racing thoughts": "HP:0033844", + "Tachyphrenia": "HP:0033844", + "Sense of impending doom": "HP:0033845", + "Sense of doom": "HP:0033845", + "Spinal hypomyelination": "HP:0033846", + "Phantageusia": "HP:0033847", + "Phantom taste": "HP:0033847", + "Receptive aphasia": "HP:0033848", + "Fluent aphasia": "HP:0033848", + "Wernicke aphasia": "HP:0033848", + "Bilingual aphasia": "HP:0033849", + "Coldness": "HP:0033850", + "Cold skin temperature": "HP:0033850", + "Cool skin": "HP:0033850", + "Cool skin temperature": "HP:0033850", + "Coolness to palpation": "HP:0033850", + "Oculomotor synkinesis": "HP:0033851", + "Abnormal intrarenal vein morphology": "HP:0033852", + "Abnormal arcuate vein morphology": "HP:0033853", + "Abnormal interlobular vein morphology": "HP:0033854", + "Abnormal interlobular vein lumen morphology": "HP:0033855", + "Abnormal morphology of the interlobular vein lumen": "HP:0033855", + "Cholesterol emboli within interlobular vein lumen": "HP:0033856", + "Intraluminal thrombi within interlobular veins": "HP:0033857", + "Organized thrombi within interlobular vein lumen": "HP:0033858", + "Abnormal peritubular capillary morphology": "HP:0033859", + "Abnormal cortical peritubular capillary morphology": "HP:0033860", + "Multilamellation of cortical peritubular capillary basement membranes": "HP:0033861", + "Multilamellation of basement membranes within cortical peritubular capillaries": "HP:0033861", + "Cortical peritubular capillaritis": "HP:0033862", + "Abnormal cortical peritubular capillary lumen morphology": "HP:0033863", + "Abnormal medullary peritubular capillary morphology": "HP:0033864", + "Medullary peritubular capillaritis": "HP:0033865", + "Medullary peritubular capillary erythrocyte congestion": "HP:0033866", + "Multilamellation of medullary peritubular capillary basement membranes": "HP:0033867", + "Multilamellation of basement membranes within medullary peritubular capillaries": "HP:0033867", + "Abnormal medullary peritubular capillary lumen morphology": "HP:0033868", + "Medullary peritubular capillary lumen cholesterol emboli": "HP:0033869", + "Cholesterol emboli within the medullary peritubular capillary lumen": "HP:0033869", + "Medullary peritubular capillary intraluminal thrombi": "HP:0033870", + "Intraluminal thrombi within medullary peritubular capillaries": "HP:0033870", + "Medullary peritubular capillary lumen organized thrombi": "HP:0033871", + "Organised thrombi within the medullary peritubular capillary lumen": "HP:0033871", + "Organized thrombi within the medullary peritubular capillary lumen": "HP:0033871", + "Cortical peritubular capillary lumen cholesterol emboli": "HP:0033872", + "Cortical peritubular capillary intraluminal thrombi": "HP:0033873", + "Intraluminal thrombi within cortical peritubular capillaries": "HP:0033873", + "Cortical peritubular capillary lumen organized thrombi": "HP:0033874", + "Abnormal arcuate vein lumen morphology": "HP:0033875", + "Arcuate vein lumen cholesterol emboli": "HP:0033876", + "Cholesterol emboli within arcuate vein lumen": "HP:0033876", + "Arcuate vein intraluminal thrombi": "HP:0033877", + "Intraluminal thrombi within arcuate veins": "HP:0033877", + "Arcuate vein lumen organized thrombi": "HP:0033878", + "Organised thrombi within arcuate vein lumen": "HP:0033878", + "Organized thrombi within arcuate vein lumen": "HP:0033878", + "Abnormal arcuate vein intima/media morphology": "HP:0033879", + "Arcuate vein intimal mucoid edema": "HP:0033880", + "Intimal mucoid edema within arcuate veins": "HP:0033880", + "Intimal mucoid oedema within arcuate veins": "HP:0033880", + "Arcuate vein intimal/medial myxomatous degeneration": "HP:0033881", + "Myxomatous change within arcuate vein intima/media": "HP:0033881", + "Arcuate vein intima/medial amyloidosis": "HP:0033882", + "Amyloidosis within arcuate vein intima/media": "HP:0033882", + "Abnormal cortical radial artery morphology": "HP:0033883", + "Abnormal interlobular artery morphology": "HP:0033883", + "Abnormal cortical radial artery lumen morphology": "HP:0033884", + "Abnormal interlobular arterial lumen morphology": "HP:0033884", + "Cortical radial artery lumen cholesterol emboli": "HP:0033885", + "Abnormal arcuate artery intima/media morphology": "HP:0033886", + "Abnormalities of the arcuate arterial intima/media": "HP:0033886", + "Cortical radial artery intimal/medial amyloidosis": "HP:0033887", + "Amyloidosis within interlobular arterial intima/media": "HP:0033887", + "Interlobular arterial intima/media amyloidosis": "HP:0033887", + "Abnormal cortical radial artery intima/media morphology": "HP:0033888", + "Abnormalities of the interlobular arterial intima/media": "HP:0033888", + "Abnormal renal arteriole morphology": "HP:0033889", + "Abnormal renal arteriole lumen morphology": "HP:0033890", + "Renal arteriolar lumen cholesterol emboli": "HP:0033891", + "Cholesterol emboli within the arteriolar lumen": "HP:0033891", + "Abnormal renal arteriole intima/media morphology": "HP:0033892", + "Renal arteriolar lumen organized thrombi": "HP:0033893", + "Renal arteriolar intraluminal thrombi": "HP:0033894", + "Abnormal renal arteriole endothelium morphology": "HP:0033895", + "Abnormal arcuate artery lumen morphology": "HP:0033896", + "Abnormalities of the arcuate arterial lumen": "HP:0033896", + "Arcuate artery lumen cholesterol emboli": "HP:0033897", + "Cholesterol emboli within arcuate arterial lumen": "HP:0033897", + "Arcuate artery intraluminal thrombi": "HP:0033898", + "Intraluminal thrombi within arcuate arterial lumen": "HP:0033898", + "Arcuate artery lumen organized thrombi": "HP:0033899", + "Organised thrombi within arcuate arterial lumen": "HP:0033899", + "Organized thrombi within arcuate arterial lumen": "HP:0033899", + "Renal arteriole intima/media amyloidosis": "HP:0033900", + "Amyloidosis within renal arteriolar intima/media": "HP:0033900", + "Abnormal arcuate artery endothelium morphology": "HP:0033901", + "Arcuate artery endotheliosis": "HP:0033902", + "Endotheliosis within arcuate arteries": "HP:0033902", + "Arcuate artery endoarterial hypercellularity": "HP:0033903", + "Endoarterial hypercellularity within arcuate artery": "HP:0033903", + "Renal arteriole intima/media hyalinosis": "HP:0033904", + "Arcuate artery intima/media arteriosclerosis": "HP:0033905", + "Arteriosclerosis within arcuate arterial intima/media": "HP:0033905", + "Renal intimal/medial arteriolitis": "HP:0033906", + "Renal arteriole intima/media arteriolosclerosis": "HP:0033907", + "Renal arteriole medial atrophy": "HP:0033908", + "Arcuate vein medial hypertrophy": "HP:0033909", + "Medial hypertrophy within arcuate veins": "HP:0033909", + "Arcuate vein medial atrophy": "HP:0033910", + "Medial atrophy within arcuate veins": "HP:0033910", + "Cortical radial artery medial hypertrophy": "HP:0033911", + "Interlobular artery medial hypertrophy": "HP:0033911", + "Medial hypertrophy within interlobular arteries": "HP:0033911", + "Cortical radial artery medial atrophy": "HP:0033912", + "Interlobular artery medial atrophy": "HP:0033912", + "Medial atrophy within interlobular arteries": "HP:0033912", + "Cortical radial artery medial/intimal arteriitis": "HP:0033913", + "Arteritis within interlobular arterial intima/media": "HP:0033913", + "Interlobular artery medial/intimal arteriitis": "HP:0033913", + "Arcuate artery intima/media amyloidosis": "HP:0033914", + "Amyloidosis within arcuate arterial intima/media": "HP:0033914", + "Arcuate artery intimal mucoid edema": "HP:0033915", + "Medial/intimal arcuate venosclerosis": "HP:0033916", + "Arcuate intimal/medial venulitis": "HP:0033917", + "Medial/intimal arcuate venulitis": "HP:0033917", + "Venulitis within arcuate vein intima/media": "HP:0033917", + "Renal arteriole medial hypertrophy": "HP:0033918", + "Medial hypertrophy within arterioles": "HP:0033918", + "obsolete Medial/intimal arcuate venulitis": "HP:0033919", + "Renal arteriole intima/media storage material accumulation": "HP:0033920", + "Accumulated storage material within arteriolar intima/media": "HP:0033920", + "Renal arteriole endoarterial hypercellularity": "HP:0033921", + "Endoarterial hypercellularity within arterioles": "HP:0033921", + "Renal arteriole leukocytic endoarterial hypercellularity": "HP:0033922", + "Renal arteriole foam cell endoarterial hypercellularity": "HP:0033923", + "Endoarterial hypercellularity within arterioles consisting of foam cells": "HP:0033923", + "Renal arteriole neutrophil endoarterial hypercellularity": "HP:0033924", + "Endoarterial hypercellularity within arterioles consisting of neutrophils": "HP:0033924", + "Renal arteriole lymphocyte endoarterial hypercellularity": "HP:0033925", + "Endoarterial hypercellularity within arterioles consisting of lymphocytes": "HP:0033925", + "Renal arteriole intimal/medial multilamellation": "HP:0033926", + "Multilamellation (onion skinning) within renal arteriole intima/media": "HP:0033926", + "Renal arteriole intima/media multilamellation": "HP:0033926", + "Renal arteriole intimal/medial onion skinning": "HP:0033926", + "Arcuate artery endoarterial leukocyte hypercellularity": "HP:0033927", + "Endoarterial hypercellularity within arcuate artery consisting of leukocytes": "HP:0033927", + "Arcuate artery endoarterial foam cell hypercellularity": "HP:0033928", + "Endoarterial hypercellularity within arcuate artery consisting of foam cells": "HP:0033928", + "Arcuate artery endoarterial neutrophil hypercellularity": "HP:0033929", + "Endoarterial hypercellularity within arcuate artery consisting of neutrophils": "HP:0033929", + "Arcuate artery endoarterial lymphocyte hypercellularity": "HP:0033930", + "Endoarterial hypercellularity within arcuate artery consisting of lymphocytes": "HP:0033930", + "Arcuate artery intima/media necrosis": "HP:0033931", + "Arcuate artery intima/media coagulative necrosis": "HP:0033932", + "Coagulative necrosis within interlobular arterial intima/media": "HP:0033932", + "Arcuate artery intima/media liquefactive necrosis": "HP:0033933", + "Liquefactive necrosis of the arcuate artery intima/media": "HP:0033933", + "Arcuate vein intimal/medial storage material accumulation": "HP:0033934", + "Multilamellation (onion skinning) within arteriolar intima/media": "HP:0033934", + "Renal arteriole intima/media onion skinning": "HP:0033934", + "Cortical radial artery intima/media necrosis": "HP:0033935", + "Necrosis within interlobular arterial intima/media": "HP:0033935", + "Cortical radial artery intima/media liquefactive necrosis": "HP:0033936", + "Liquefactive necrosis within interlobular arterial intima/media": "HP:0033936", + "Cortical radial artery intima/media coagulative necrosis": "HP:0033937", + "Renal arteriole intima/media necrosis": "HP:0033938", + "Renal arteriole intima/media liquefactive necrosis": "HP:0033939", + "Liquefactive necrosis of the renal arteriolar intima/media": "HP:0033939", + "Renal arteriole intima/media coagulative necrosis": "HP:0033940", + "Granulomatous arteriolitis of the arteriolar intima/media": "HP:0033941", + "Granulomatous arteriolitis within arteriolar intima/media": "HP:0033941", + "Arcuate vein medial/intimal necrosis": "HP:0033942", + "Necrosis within arcuate vein intima/media": "HP:0033942", + "Arcuate vein medial/intimal coagulative necrosis": "HP:0033943", + "Coagulative necrosis within arcuate vein intima/media": "HP:0033943", + "Arcuate vein medial/intimal liquefactive necrosis": "HP:0033944", + "Liquefactive necrosis within arcuate vein intima/media": "HP:0033944", + "Arcuate intimal/medial granulomatous venulitis": "HP:0033945", + "Arcuate vein intima/media crystal accumulation": "HP:0033946", + "Renal arteriole intima/media crystal accumulation": "HP:0033947", + "Accumulated crystals within renal arteriolar intima/media": "HP:0033947", + "Arcuate artery intima/media arteriitis": "HP:0033948", + "Arteritis within arcuate arterial intima/media": "HP:0033948", + "Arcuate artery intima/media granulomatous arteriitis": "HP:0033949", + "Granulomatous arteritis within arcuate arterial intima/media": "HP:0033949", + "Cortical radial artery intraluminal thrombi": "HP:0033950", + "Intraluminal thrombi within interlobular arterial lumen": "HP:0033950", + "Cortical radial artery intraluminal organized thrombi": "HP:0033951", + "Organised thrombi within interlobular arterial lumen": "HP:0033951", + "Organized thrombi within interlobular arterial lumen": "HP:0033951", + "Abnormal cortical radial artery endothelium morphology": "HP:0033952", + "Abnormalities of the interlobular arterial endothelium": "HP:0033952", + "Cortical radial artery endotheliosis": "HP:0033953", + "Endotheliosis within interlobular arteries": "HP:0033953", + "Cortical radial artery hypercellularity": "HP:0033954", + "Endoarterial hypercellularity within interlobular artery": "HP:0033954", + "Cortical radial artery leukocyte hypercellularity": "HP:0033955", + "Endoarterial hypercellularity within interlobular artery consisting of leukocytes": "HP:0033955", + "Cortical radial artery lymphocyte hypercellularity": "HP:0033956", + "Endoarterial hypercellularity within interlobular artery consisting of lymphocytes": "HP:0033956", + "Cortical radial artery neutrophil hypercellularity": "HP:0033957", + "Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils": "HP:0033957", + "Cortical radial artery foam cell hypercellularity": "HP:0033958", + "Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells": "HP:0033958", + "Cortical radial artery intima/media arteriosclerosis": "HP:0033959", + "Arteriosclerosis within interlobular arterial intima/media": "HP:0033959", + "Cortical radial artery intimal mucoid edema": "HP:0033960", + "Intimal mucoid edema within interlobular arterial intima/media": "HP:0033960", + "Intimal mucoid oedema within interlobular arterial intima/media": "HP:0033960", + "Cortical radial artery intima/media multilamellation": "HP:0033961", + "Cortical radial artery intima/media onion skinning": "HP:0033961", + "Multilamellation (onion skinning) within interlobular arterial intima/media": "HP:0033961", + "Cortical radial artery medial/intimal granulomatous arteriitis": "HP:0033962", + "Abnormal interlobular vein intima/media morphology": "HP:0033963", + "Interlobular intima/media venosclerosis": "HP:0033964", + "Venosclerosis within interlobular vein intima/media": "HP:0033964", + "Interlobular vein intimal mucoid edema": "HP:0033965", + "Intimal mucoid edema within interlobular veins": "HP:0033965", + "Intimal mucoid oedema within interlobular veins": "HP:0033965", + "Interlobular vein intima/media amyloidosis": "HP:0033966", + "Amyloidosis within interlobular vein intima/media": "HP:0033966", + "Interlobular vein intima/media venulitis": "HP:0033967", + "Venulitis within interlobular vein intima/media": "HP:0033967", + "Interlobular vein intima/media granulomatous venulitis": "HP:0033968", + "Granulomatous venulitis within interlobular vein intima/media": "HP:0033968", + "Interlobular vein intima/media necrosis": "HP:0033969", + "Necrosis within interlobular vein intima/media": "HP:0033969", + "Interlobular vein intima/media liquefactive necrosis": "HP:0033970", + "Liquefactive necrosis within interlobular vein intima/media": "HP:0033970", + "Interlobular vein intima/media coagulative necrosis": "HP:0033971", + "Interlobular vein medial atrophy": "HP:0033972", + "Medial atrophy within interlobular veins": "HP:0033972", + "Interlobular vein medial hypertrophy": "HP:0033973", + "Medial hypertrophy within interlobular veins": "HP:0033973", + "Interlobular vein intima/media multilamellation": "HP:0033974", + "Interlobular vein intima/media onion skinning": "HP:0033974", + "Multilamellation (onion skinning) within interlobular vein intima/media": "HP:0033974", + "Absent second fingernail": "HP:0033975", + "Volar fingernail": "HP:0033976", + "Palmar fingernail": "HP:0033976", + "Ventral fingernail": "HP:0033976", + "Talar aplasia": "HP:0033977", + "Absent talus": "HP:0033977", + "Talus aplasia": "HP:0033977", + "Reduced beta-hexosaminidase B activity": "HP:0033978", + "Hexosaminidase B low in blood": "HP:0033978", + "Excessive dynamic airway collapse": "HP:0033979", + "Membranous tracheobronchomalacia": "HP:0033979", + "Paroxysmal tonic upgaze": "HP:0033980", + "Vertebral artery tortuosity": "HP:0033981", + "Tortuous vertebral arteries": "HP:0033981", + "Celiac artery dissection": "HP:0033982", + "Decreased circulating apolipoprotein C-II concentration": "HP:0033983", + "Decreased plasma apolipoprotein C-II": "HP:0033983", + "Increased urinary 8-oxo-7,8-dihydroguanosine level": "HP:0033984", + "Increased urinary 8-oxo-7,8-dihydroguanosine": "HP:0033984", + "Increased urinary 8-oxo-Gsn level": "HP:0033984", + "Increased urine 8-oxo-7,8-dihydroguanosine": "HP:0033984", + "Increased urine 8-oxo-GMP": "HP:0033984", + "Elongated femoral neck": "HP:0033985", + "Long femoral neck": "HP:0033985", + "Tortuous lymphatic vessels": "HP:0033986", + "Tortuous lymphatics": "HP:0033986", + "Phosphaturic mesenchymal tumor": "HP:0033987", + "Amygdala microinfarct": "HP:0033988", + "Hippocampal microinfarct": "HP:0033989", + "Cartilaginous tracheobronchomalacia": "HP:0033990", + "Cartilaginous malacia": "HP:0033990", + "Vasa previa": "HP:0033991", + "Chronotropic incompetence": "HP:0033992", + "Viral encephalitis": "HP:0033993", + "Dependency on parenteral nutrition": "HP:0033994", + "Microvillus inclusions": "HP:0033995", + "Microvillar PAS-positive secretory granules": "HP:0033996", + "Perinuclear cardiomyocyte vacuolization": "HP:0033997", + "Single-lobed right lung": "HP:0033998", + "Bronchial hemorrhage": "HP:0033999", + "Bronchial bleeding": "HP:0033999", + "Tracheal hemorrhage": "HP:0034000", + "Tracheal bleeding": "HP:0034000", + "Anti-Complement factor H antibody positivity": "HP:0034001", + "CFH autoantibodies": "HP:0034001", + "Anti-phospholipase A2 receptor antibody positivity": "HP:0034002", + "Anti-PLA2R antibody positivity": "HP:0034002", + "Broad medial eyebrow": "HP:0034003", + "Medial broadening of eyebrows": "HP:0034003", + "Parosmia": "HP:0034004", + "Decreased dendritic spine number": "HP:0034005", + "Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio": "HP:0034006", + "Posterior atrophy of corpus callosum": "HP:0034007", + "Opto-chiasmatic atrophy": "HP:0034008", + "Pelvic lipomatosis": "HP:0034009", + "Increased megakaryocyte colony forming unit count": "HP:0034010", + "Reduced progressive sperm motility": "HP:0034011", + "Non-progressive sperm motility": "HP:0034011", + "Palmoplantar hypohidrosis": "HP:0034012", + "Curvilinear pericallosal lipoma": "HP:0034013", + "Tubulonodular pericallosal lipoma": "HP:0034014", + "Cavitating pulmonary nodule": "HP:0034015", + "Anti-HLA antibody positivity": "HP:0034016", + "Anti-human leukocyte antigen antibody positivity": "HP:0034016", + "Anti-class I HLA antibody positivity": "HP:0034017", + "Anti-class II HLA antibody positivity": "HP:0034018", + "Anti-HLA-A antibody positivity": "HP:0034019", + "Anti-HLA-A IgG1 antibody positivity": "HP:0034020", + "Anti-HLA-A IgG3 antibody positivity": "HP:0034021", + "Anti-HLA-B antibody positivity": "HP:0034022", + "Anti-HLA-B IgG1 antibody positivity": "HP:0034023", + "Anti-HLA-B IgG3 antibody positivity": "HP:0034024", + "Abnormal circulating GABA concentration": "HP:0034025", + "Elevated circulating saccharopine concentration": "HP:0034026", + "Abnormal urinary non-proteinogenic amino acid level": "HP:0034027", + "Saccharopinuria": "HP:0034028", + "Hepatic foam cells": "HP:0034029", + "Lip cyanosis": "HP:0034030", + "Bluish lips": "HP:0034030", + "Cyanotic lips": "HP:0034030", + "Labial cyanosis": "HP:0034030", + "Facial cyanosis": "HP:0034031", + "Bluish face": "HP:0034031", + "Cyanotic face": "HP:0034031", + "Central cyanosis": "HP:0034032", + "Peripheral cyanosis": "HP:0034033", + "Differential cyanosis": "HP:0034034", + "Pharyngeal exudate": "HP:0034035", + "Fluid from the pharynx": "HP:0034035", + "Pharyngeal fluid": "HP:0034035", + "Pseudo-chilblains on toes": "HP:0034036", + "COVID toe": "HP:0034036", + "Chilblain-like toe lesions": "HP:0034036", + "Chilblain-like toes": "HP:0034036", + "Pseudo-chilblains on fingers": "HP:0034037", + "COVID finger": "HP:0034037", + "COVID fingers": "HP:0034037", + "Silent hypoxemia": "HP:0034038", + "Ventricular couplet": "HP:0034039", + "Doublet premature ventricular contractions": "HP:0034039", + "Bidirectional ventricular tachycardia": "HP:0034040", + "obsolete Ventricular ectopy": "HP:0034041", + "Dorsal hirsutism": "HP:0034042", + "Increased fecal bile acid": "HP:0034043", + "Trident pelvis": "HP:0034044", + "Trident sign": "HP:0034044", + "Angulated muscle fibers": "HP:0034045", + "Angular muscle fibers": "HP:0034045", + "Angular muscle fibres": "HP:0034045", + "Mandibular osteolysis": "HP:0034046", + "Rib osteolysis": "HP:0034047", + "Decreased circulating chenodeoxycholic acid concentration": "HP:0034048", + "Decreased circulating chenodiol concentration": "HP:0034048", + "Elevated urinary prostaglandin E2 level": "HP:0034049", + "Elevated urinary PGE2 level": "HP:0034049", + "Elevated urinary prostaglandin E2 metabolite level": "HP:0034050", + "Hypoplastic anterior limbs of the internal capsule": "HP:0034051", + "Impaired toe-walking ability": "HP:0034052", + "Decreased acid ceramidase activity": "HP:0034053", + "Probst bundles": "HP:0034054", + "Anti-side-chain cleavage enzyme antibody positivity": "HP:0034055", + "Anti-P450scc": "HP:0034055", + "Increased fecal calprotectin level": "HP:0034056", + "Fetal anomaly": "HP:0034057", + "Abnormal fetal morphology": "HP:0034058", + "Structural fetal anomaly": "HP:0034058", + "Structural foetal anomaly": "HP:0034058", + "Abnormal fetal physiology": "HP:0034059", + "Functional fetal anomaly": "HP:0034059", + "Functional foetal anomaly": "HP:0034059", + "Triggered by fava bean ingestion": "HP:0034060", + "Anti-steroid 17alpha-hydroxylase antibody positivity": "HP:0034061", + "Anti-P450C17": "HP:0034061", + "Anti-insulin antibody positivity": "HP:0034062", + "IAA positivity": "HP:0034062", + "Insulin autoantibodies": "HP:0034062", + "Anti-islet antigen-2 antibody positivity": "HP:0034063", + "Anti-IA2 antibody positivity": "HP:0034063", + "Anti-IA2A": "HP:0034063", + "ICA512": "HP:0034063", + "Anti-salivary protein antibody positivity": "HP:0034064", + "Anti-SP1 antibody positivity": "HP:0034064", + "Anti-Zinc transporter 8 antibody positivity": "HP:0034065", + "Anti ZnT8 autoantibodies": "HP:0034065", + "Anti-carbonic anhydrase VI antibody positivity": "HP:0034066", + "Anti-CA6 antibody positivity": "HP:0034066", + "Tonofilament clumping": "HP:0034067", + "Clumping of the keratin tonofilaments": "HP:0034067", + "Anti-plasminogen binding peptide antibody positivity": "HP:0034068", + "Anti-PBP antibody positivity": "HP:0034068", + "Anti-parotid secretory protein antibody positivity": "HP:0034069", + "Anti-PSP antibody positivity": "HP:0034069", + "Anti-enterocyte antibody positivity": "HP:0034070", + "AEA": "HP:0034070", + "Anti-21-hydroxylase antibody positivity": "HP:0034071", + "Anti-P450c21": "HP:0034071", + "Abnormal fetal long-bone echogenicity": "HP:0034072", + "Reduced fetal long bone echogenicity": "HP:0034073", + "Increased fetal long bone echogenicity": "HP:0034074", + "Decreased circulating apolipoprotein B concentration": "HP:0034075", + "Anti-ribosome Po antibody positivity": "HP:0034076", + "Anti-complement component C1q antibody positivity": "HP:0034077", + "Anti-C1q antibody positivity": "HP:0034077", + "Anti-centromere protein A antibody positivity": "HP:0034078", + "Anti-CENP-A antibody positivity": "HP:0034078", + "Anti-centromere protein B antibody positivity": "HP:0034079", + "Anti-CENP-B antibody positivity": "HP:0034079", + "Anti-U3 RNP antibody positivity": "HP:0034080", + "Anti-fibrillarin antibody positivity": "HP:0034080", + "Anti-Th/To antibody positivity": "HP:0034081", + "Anti-bicaudal D2 antibody positivity": "HP:0034082", + "Anti-BICD2 antibody positivity": "HP:0034082", + "Anti-nucleolus-organizing region antibody positivity": "HP:0034083", + "Anti-Nor90 antibody positivity": "HP:0034083", + "Anti-phosphatidyl ethanolamine antibody positivity": "HP:0034084", + "Anti-PM-Scl100 antibody positivity": "HP:0034085", + "Anti-PM-Scl75 antibody positivity": "HP:0034086", + "Anti-U11/U12 RNP antibody positivity": "HP:0034087", + "Anti-Ku antibody positivity": "HP:0034088", + "Anti-B23 antibody positivity": "HP:0034089", + "Anti-RuvBL1/2 antibody positivity": "HP:0034090", + "Anti-platelet derived growth factor receptor": "HP:0034091", + "Anti-PDGFR antibody positivity": "HP:0034091", + "Anti-cyclic citrullinated peptide antibody positivity": "HP:0034092", + "Anti-CCP antibody positivity": "HP:0034092", + "Anti-Ro52/TRIM21 antibody positivity": "HP:0034093", + "Anti-Ro52 antibody positivity": "HP:0034093", + "Anti-angiotensin receptor type-1 antibody positivity": "HP:0034094", + "Anti-AT1R antibody positivity": "HP:0034094", + "Anti-endothelin-1 type A receptor antibody positivity": "HP:0034095", + "Anti-ETAR antibody positivity": "HP:0034095", + "Anti-phosphatidic acid antibody positivity": "HP:0034096", + "Anti-phosphatidyl choline antibody positivity": "HP:0034097", + "Anti-phosphatidyl glycerol antibody positivity": "HP:0034098", + "Anti-phosphatidyl inositol antibody positivity": "HP:0034099", + "Anti-phosphatidyl serine antibody positivity": "HP:0034100", + "Anti-annexin-V antibody positivity": "HP:0034101", + "Anti-sphingolipid antibody positivity": "HP:0034102", + "Anti-GM1 antibody positivity": "HP:0034103", + "Anti-ganglioside-monosialic acid antibody positivity": "HP:0034103", + "Anti-neutrophil elastase antibody positivity": "HP:0034104", + "Anti-transcription intermediary factor-1gamma antibody positivity": "HP:0034105", + "Anti-TIF-1gamma antibody positivity": "HP:0034105", + "Anti-TIF1-gamma antibody positivity": "HP:0034105", + "Anti-Su antigen/argonaute 2 antibody positivity": "HP:0034106", + "Anti-Ago2 antibody positivity": "HP:0034106", + "Anti-Su antibody positivity": "HP:0034106", + "Anti-p53 antibody positivity": "HP:0034107", + "Anti-Y-box protein-1 antibody positivity": "HP:0034108", + "Anti-YB 1 antibody positivity": "HP:0034108", + "Anti-GW182 antibody positivity": "HP:0034109", + "Anti-Gerbich phenotype 1 antibody positivity": "HP:0034110", + "Anti-Ge-1 antibody positivity": "HP:0034110", + "Anti-MIT3 antibody positivity": "HP:0034111", + "Anti-GM1 IgG antibody positivity": "HP:0034112", + "obsolete Anti-type I liver-kidney microsomal antibody positivity": "HP:0034113", + "Anti-hexokinase-1 antibody positivity": "HP:0034114", + "Anti-HK-1 antibody positivity": "HP:0034114", + "Anti-Kelch like protein 12 antibody positivity": "HP:0034115", + "Anti-KLHL-12 antibody positivity": "HP:0034115", + "obsolete Anti-thyrotropin receptor antibody": "HP:0034116", + "Anti-angiotensin-converting enzyme 2 antibody positivity": "HP:0034117", + "Anti-ACE2 antibody positivity": "HP:0034117", + "Anti-GM1 IgM antibody positivity": "HP:0034118", + "Anti-GD1a IgG antibody positivity": "HP:0034119", + "Anti-GD1a IgM antibody positivity": "HP:0034120", + "Anti-GD1a antibody positivity": "HP:0034121", + "Anti-GQ1b antibody positivity": "HP:0034122", + "Anti-GQ1b IgM antibody positivity": "HP:0034123", + "Anti-GD1b antibody positivity": "HP:0034124", + "Anti-GD1b IgM antibody positivity": "HP:0034125", + "Anti-GD1b IgG antibody positivity": "HP:0034126", + "Anti-GQ1b IgG antibody positivity": "HP:0034127", + "Anti-GT1a antibody positivity": "HP:0034128", + "Anti-GT1a IgM antibody positivity": "HP:0034129", + "Anti-GT1a IgG antibody positivity": "HP:0034130", + "Anti-GT1b antibody positivity": "HP:0034131", + "Anti-GM2 antibody positivity": "HP:0034132", + "Anti-GM3 antibody positivity": "HP:0034133", + "Anti-GM4 antibody positivity": "HP:0034134", + "Anti-neurofascin-155 antibody positivity": "HP:0034135", + "Anti-NF155 antibody positivity": "HP:0034135", + "Anti-neurofascin 186 antibody positivity": "HP:0034136", + "Anti-NF186 antibody positivity": "HP:0034136", + "Anti-contactin-1 antibody positivity": "HP:0034137", + "Anti-CNTN1 antibody positivity": "HP:0034137", + "Anti-contactin-associated protein 1 antibody positivity": "HP:0034138", + "Anti-CASPR1 antibody positivity": "HP:0034138", + "Anti-SUMO-activating enzyme antibody positivity": "HP:0034139", + "Anti-SAE antibody positivity": "HP:0034139", + "Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity": "HP:0034139", + "Anti-SUMO-activating enzyme subunit 1 antibody positivity": "HP:0034140", + "Anti-SUMO-activating enzyme subunit 2 antibody positivity": "HP:0034141", + "Anti-SAE 2 antibody positivity": "HP:0034141", + "Anti-nuclear matrix protein-2 antibody positivity": "HP:0034142", + "Anti-MJ/NXP-2 antibody positivity": "HP:0034142", + "Anti-NXP-2 antibody positivity": "HP:0034142", + "Anti-threonyl-tRNA synthetase antibody positivity": "HP:0034143", + "Anti-PL-7 antibody positivity": "HP:0034143", + "Anti-hY-RNA complex antibody positivity": "HP:0034144", + "Anti-Ro60 antibody positivity": "HP:0034144", + "Anti-alanyl-tRNA synthetase antibody positivity": "HP:0034145", + "Anti-PL-12 antibody positivity": "HP:0034145", + "Anti-glycyl tRNA-synthetase antibody positivity": "HP:0034146", + "Anti-EJ antibody positivity": "HP:0034146", + "Anti-aminoacyl-tRNA synthetase antibody positivity": "HP:0034147", + "Anti-isoleucyl tRNA-synthetase antibody positivity": "HP:0034148", + "Anti-OJ antibody positivity": "HP:0034148", + "Anti-phenylalanyl tRNA synthetase antibody positivity": "HP:0034149", + "Anti-Zo alpha antibody positivity": "HP:0034149", + "Anti-Zo antibody positivity": "HP:0034149", + "Phenylanyl-t-RNA synthetase alpha antibody positivity": "HP:0034149", + "Anti-tyrosyl-tRNA synthetase antibody positivity": "HP:0034150", + "Anti-Ha antibody positivity": "HP:0034150", + "Anti-asparaginyl-tRNA synthetase antibody positivity": "HP:0034151", + "Anti-KS antibody positivity": "HP:0034151", + "Anti-histidyl tRNA synthetase antibody positivity": "HP:0034152", + "Anti-JO1 antibody positivity": "HP:0034152", + "Anti-Jo-1 antibody positivity": "HP:0034152", + "Anti-cytosolic-5-nucleotidase-1A antibody positivity": "HP:0034153", + "Anti-cN1A antibody positivity": "HP:0034153", + "Anti-Ki antibody positivity": "HP:0034154", + "Anti-sp100 antibody positivity": "HP:0034155", + "Anti-beta-2-Glycoprotein I IgG antibody positivity": "HP:0034156", + "Anti-beta2GPI IgG antibody positivity": "HP:0034156", + "Anti-beta-2-Glycoprotein I IgM antibody positivity": "HP:0034157", + "Anti-beta2GPI IgM antibody positivity": "HP:0034157", + "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity": "HP:0034158", + "Anti-PTPA antibody positivity": "HP:0034158", + "Paget disease of bone": "HP:0034159", + "Abnormal circulating interleukin 9 concentration": "HP:0034160", + "Reduced circulating interleukin 9 concentration": "HP:0034161", + "Abnormal circulating interleukin 10 concentration": "HP:0034162", + "Reduced circulating interleukin 10 concentration": "HP:0034163", + "Abnormal circulating interleukin 21 concentration": "HP:0034164", + "Reduced circulating interleukin 21 concentration": "HP:0034165", + "Increased circulating interleukin 21 concentration": "HP:0034166", + "Abnormal circulating interleukin 22 concentration": "HP:0034167", + "Reduced circulating interleukin 22 concentration": "HP:0034168", + "Increased circulating interleukin 22 concentration": "HP:0034169", + "Abnormal circulating interleukin 23 concentration": "HP:0034170", + "Reduced circulating interleukin 23 concentration": "HP:0034171", + "Increased circulating interleukin 23 concentration": "HP:0034172", + "Abnormal circulating interleukin 27 concentration": "HP:0034173", + "Reduced circulating interleukin 27 concentration": "HP:0034174", + "Increased circulating interleukin 27 concentration": "HP:0034175", + "Abnormal circulating interleukin 17A concentration": "HP:0034176", + "Reduced circulating interleukin 17A concentration": "HP:0034177", + "Increased circulating interleukin 17A concentration": "HP:0034178", + "Vertebral artery aneurysm": "HP:0034179", + "Fusion of the caudate and putamen": "HP:0034180", + "Aplasia/Hypoplasia of the liver": "HP:0034181", + "Segmental hypoplasia of liver": "HP:0034182", + "Spastic triplegia": "HP:0034183", + "Increased insulin like growth factor binding protein acid labile subunit concentration": "HP:0034184", + "Increased circulating IGFALS contration": "HP:0034184", + "Median pseudocleft lip": "HP:0034185", + "Patella alta": "HP:0034186", + "Clavicular pseudarthrosis": "HP:0034187", + "Midline liver": "HP:0034188", + "Anti-thyroid-stimulating hormone receptor antibody positivity": "HP:0034189", + "Anti-TSH receptor antibody positivity": "HP:0034189", + "Anti-thyrotropin receptor antibody": "HP:0034189", + "TRAbs": "HP:0034189", + "Abnormal fetal cardiovascular physiology": "HP:0034190", + "Elevated fetal middle cerebral artery peak systolic velocity": "HP:0034191", + "Pulmonary thromboembolism": "HP:0034192", + "Stratum basale cleavage": "HP:0034193", + "Blistering with cleavage within basal keratinocytes": "HP:0034193", + "Cleavage within the basal keratinocyte layer": "HP:0034193", + "Suprabasal cleavage": "HP:0034194", + "Blistering with suprabasal clefting": "HP:0034194", + "Triggered by muscle relaxant": "HP:0034195", + "Ductus venosus agenesis": "HP:0034196", + "Agenesis of the ductus venosus": "HP:0034196", + "Third trimester onset": "HP:0034197", + "Second trimester onset": "HP:0034198", + "Late first trimester onset": "HP:0034199", + "Early fetal onset": "HP:0034199", + "Early foetal onset": "HP:0034199", + "Abnormal CSF homovanillic acid concentration": "HP:0034200", + "Increased CSF homovanillic acid concentration": "HP:0034201", + "Abnormal iduronate sulfatase concentration": "HP:0034202", + "Decreased iduronate sulfatase level": "HP:0034203", + "Decreased circulating C1-esterase inhibitor concentration": "HP:0034204", + "Iniencephaly": "HP:0034205", + "Abnormal fetal central nervous system morphology": "HP:0034206", + "Abnormal fetal CNS morphology": "HP:0034206", + "Abnormal foetal CNS morphology": "HP:0034206", + "Abnormal fetal gastrointestinal system morphology": "HP:0034207", + "Fetal intracranial hemorrhage": "HP:0034208", + "Fetal subependymal hemorrhage": "HP:0034209", + "Grade I fetal intracranial hemorrhage": "HP:0034209", + "Grade I foetal intracranial haemorrhage": "HP:0034209", + "Fetal intraventricular hemorrhage": "HP:0034210", + "Fetal cerebral parenchymal hemorrhage": "HP:0034211", + "Fetal extra-axial hemorrhage": "HP:0034212", + "Fetal posterior fossa hemorrhage": "HP:0034213", + "Fetal intraventricular hemorrhage without ventriculomegaly": "HP:0034214", + "Grade II fetal intracranial hemorrhage": "HP:0034214", + "Grade II foetal intracranial haemorrhage": "HP:0034214", + "Fetal cerebellar hemisphere hemorrhage": "HP:0034215", + "Fetal cerebellar vermis hemorrhage": "HP:0034216", + "Sonographic non-visualized fetal bladder": "HP:0034217", + "Fetal intraventricular hemorrhage with ventriculomegaly": "HP:0034218", + "Grade III fetal intracranial hemorrhage": "HP:0034218", + "Grade III foetal intracranial haemorrhage": "HP:0034218", + "Fetal intraventricular hemorrhage with periventricular hemorrhage": "HP:0034219", + "Grade IV fetal intracranial hemorrhage": "HP:0034219", + "Grade IV foetal intracranial haemorrhage": "HP:0034219", + "Temporal lobe megalencephaly": "HP:0034220", + "Abnormal temporal lobe morphology": "HP:0034221", + "Temporal lobe dysplasia": "HP:0034222", + "Elevated umbilical artery pulsatility": "HP:0034223", + "Elevated umbilical artery Dopplers": "HP:0034223", + "Increased umbilical artery pulsatility index": "HP:0034223", + "Absent end-diastolic umbilical artery flow": "HP:0034224", + "Reversed end-diastolic umbilical artery flow": "HP:0034225", + "Champagne cork sign": "HP:0034226", + "Aortic isthmus hypoplasia": "HP:0034227", + "Proximal aortic arch hypoplasia": "HP:0034228", + "Distal aortic arch hypoplasia": "HP:0034229", + "Inferior crossed fused renal ectopia": "HP:0034230", + "Type A cross fused renal ectopia": "HP:0034230", + "Sigmoid kidney": "HP:0034231", + "S-shaped kidney": "HP:0034231", + "Type B cross fused renal ectopia": "HP:0034231", + "Unilateral lump kidney": "HP:0034232", + "Type C cross fused renal ectopia": "HP:0034232", + "Disc kidney": "HP:0034233", + "Type D cross fused renal ectopia": "HP:0034233", + "L-shaped kidney": "HP:0034234", + "Tandem kidney": "HP:0034234", + "Type E cross fused renal ectopia": "HP:0034234", + "Superior crossed-fused renal ectopia": "HP:0034235", + "Apnea of prematurity": "HP:0034236", + "AOP": "HP:0034236", + "Open neural tube defect": "HP:0034237", + "Closed neural tube defect": "HP:0034238", + "Renal vein thrombosis": "HP:0034239", + "Fetal neck mass": "HP:0034240", + "Prenatal death": "HP:0034241", + "Death before birth": "HP:0034241", + "Intrauterine death": "HP:0034241", + "Abnormal fetal genitourinary system morphology": "HP:0034242", + "Abnormal fetal pulmonary morphology": "HP:0034243", + "Gastric pseudomass": "HP:0034244", + "Fetal head anomaly": "HP:0034245", + "Fetal scalp mass": "HP:0034246", + "Fetal lower urinary tract obstruction": "HP:0034247", + "Increased fetal lens echogenicity": "HP:0034248", + "Severe influenza infection": "HP:0034249", + "Fetal nuchal edema": "HP:0034250", + "Abnormal corneal reflex": "HP:0034251", + "Absent corneal reflex": "HP:0034252", + "Eosinophil nuclear hypersegmentation": "HP:0034253", + "Face of the giant panda sign": "HP:0034254", + "Midbrain panda sign": "HP:0034254", + "Colovesical fistula": "HP:0034255", + "Colovesicular fistula": "HP:0034255", + "Vesicocolic fistula": "HP:0034255", + "Absent dermoepidermal hemidesmosomes": "HP:0034256", + "C4 nephritic factor positivity": "HP:0034257", + "Aplasia/Hypoplasia of the midbrain": "HP:0034258", + "Aplasia/Hypoplasia of the mesencephalon": "HP:0034258", + "Hypoplasia of the midbrain": "HP:0034259", + "Hypoplasia of the mesencephalon": "HP:0034259", + "Hypoplastic mesencephalon": "HP:0034259", + "Aplastic zygomatic arch": "HP:0034260", + "Aplasia/Hypoplasia of facial bones": "HP:0034261", + "Absent lanugo": "HP:0034262", + "Abnormal vaginal bleeding": "HP:0034263", + "Postcoital vaginal bleeding": "HP:0034264", + "Bleeding after sex": "HP:0034264", + "Mastalgia": "HP:0034265", + "Breast pain": "HP:0034265", + "Painful breast": "HP:0034265", + "Vaginal bleeding during sex": "HP:0034266", + "Pelvic pain": "HP:0034267", + "Pain in the pelvis": "HP:0034267", + "Abnormal vaginal physiology": "HP:0034268", + "Abnormal vaginal discharge": "HP:0034269", + "Serrated incisors": "HP:0034270", + "Jagged incisors": "HP:0034270", + "Copper beaten skull": "HP:0034271", + "Perifoveal hypoautofluorescence": "HP:0034272", + "Premature sagging cheeks": "HP:0034273", + "Premature facial sagging": "HP:0034273", + "Gastrointestinal ulcer": "HP:0034274", + "Verrucous epidermal nevus": "HP:0034275", + "Elevated circulating thymidine concentration": "HP:0034276", + "Increased serum thymidine": "HP:0034276", + "Elevated circulating deoxyuridine concentration": "HP:0034277", + "Multinucleated erythroblast": "HP:0034278", + "Bone marrow: multinucleated erythroblasts": "HP:0034278", + "Multinucleate erythroblast": "HP:0034278", + "Binucleated erythroblast": "HP:0034278", + "Double-nucleated erythroblast": "HP:0034278", + "2,8-dihydroxyadenine crystalluria": "HP:0034279", + "2,8-dihydroxyadenine urinary crystals": "HP:0034279", + "Target cells": "HP:0034280", + "Codocytes": "HP:0034280", + "Phalangeal cone-shaped epiphyses": "HP:0034281", + "Cone-shaped epiphyses of phalanges": "HP:0034281", + "Cone-shaped phalangeal epiphyses": "HP:0034281", + "Subcutaneous ossification": "HP:0034282", + "Increased fecal protoporphyrin concentration": "HP:0034283", + "Recurrent gingivitis": "HP:0034284", + "Enteroviral encephalitis": "HP:0034285", + "obsolete Pneumocystis carinii pneumonia": "HP:0034286", + "Afibrinogenemia": "HP:0034287", + "Elevated circulating reverse T3 concentration": "HP:0034288", + "Elevated circulating reverse triiodothyronine concentration": "HP:0034288", + "Elevated rT3": "HP:0034288", + "Elevated circulating rT3/T3 ratio": "HP:0034289", + "Elevated circulating tiglylglycine concentration": "HP:0034290", + "Elevated circulating creatine concentration": "HP:0034291", + "Reduced circulating creatine concentration": "HP:0034292", + "Temporal lobe calcification": "HP:0034293", + "Ductal bile plugs": "HP:0034294", + "Reduced cerebral white matter volume": "HP:0034295", + "White matter loss": "HP:0034295", + "Elevated urine 3,5,6-trichloro-2-pyridinol level": "HP:0034296", + "Elevated circulating tetracosanoic acid concentration": "HP:0034297", + "Elevated circulating hexacosanoic acid concentration": "HP:0034298", + "Elevated circulating cerotic acid concentration": "HP:0034298", + "Sertoli cell-only phenotype": "HP:0034299", + "Decreased acid sphingomyelinase activity": "HP:0034300", + "Congenital pouch colon": "HP:0034301", + "Megalopapilla": "HP:0034302", + "Notched T wave": "HP:0034303", + "Notched T-wave": "HP:0034303", + "Epsilon wave": "HP:0034304", + "2:1 atrioventricular block": "HP:0034305", + "2:1 AV block": "HP:0034305", + "Ventricular bigeminy": "HP:0034306", + "Elevated left ventricular end-diastolic diameter": "HP:0034307", + "Prolonged P wave": "HP:0034308", + "Multiflagellar spermatozoa": "HP:0034309", + "Multi-tailed spermatozoa": "HP:0034309", + "Post-vaccination yellow fever": "HP:0034310", + "Postvaccination yellow fever": "HP:0034310", + "Hypoplastic optic chiasm": "HP:0034311", + "Optic chiasm hypoplasia": "HP:0034311", + "Nocturnal hypoxemia": "HP:0034312", + "Sleep hypoxemia": "HP:0034312", + "Sleep-related hypoxemia": "HP:0034312", + "Hyperdynamic left ventricular ejection fraction": "HP:0034313", + "Abnormal left ventricular ejection fraction": "HP:0034314", + "Chronic cough": "HP:0034315", + "Thinning of the substantia nigra pars compacta": "HP:0034316", + "Unusual viral infection": "HP:0034317", + "Unusual virus reactivation": "HP:0034318", + "CNS vasculitis with reactivation of varicella-zoster virus": "HP:0034319", + "Muscle fiber intracytoplasmic reducing inclusion bodies": "HP:0034320", + "Intracytoplasmic myofiber reducing inclusion bodies": "HP:0034320", + "Elevated circulating guanidinoacetic acid concentration": "HP:0034321", + "Increased circulating guanidinoacetic acid concentration": "HP:0034321", + "Reduced tissue galactocerebrosidase activity": "HP:0034322", + "Reduced circulating galactocerebrosidase activity": "HP:0034322", + "Reduced galactocerebrosidase activity in cultured fibroblasts": "HP:0034322", + "Reduced leukocyte galactocerebrosidase activity": "HP:0034322", + "Reduced circulating growth hormone concentration": "HP:0034323", + "Growth hormone deficiency": "HP:0034323", + "Somatotropin deficiency": "HP:0034323", + "Brachiocephalic artery aneurysm": "HP:0034324", + "Dilatated brachiocephalic artery": "HP:0034324", + "Innominate artery aneurysm": "HP:0034324", + "Common carotid artery aneurysm": "HP:0034325", + "Adenomyosis": "HP:0034326", + "Posterior corneal stroma punctiform multicolored opacities": "HP:0034327", + "Punctiform multicolored opacities in the posterior corneal stroma": "HP:0034327", + "Punctiform multicoloured opacities in the posterior corneal stroma": "HP:0034327", + "Fibro-obliterative bile-duct lesion": "HP:0034328", + "Fibro-obliterative bile-duct scarring": "HP:0034328", + "Fibro-obliterative loss of bile ducts": "HP:0034328", + "Dysplastic megalencephaly": "HP:0034329", + "Bilateral hemimegalencephaly": "HP:0034329", + "Regional right ventricular hypokinesis": "HP:0034330", + "McConnell sign": "HP:0034331", + "Cognitive regression": "HP:0034332", + "Increased circulating hypoxanthine concentration": "HP:0034333", + "Hypoxanthine high in blood": "HP:0034333", + "Inheritance qualifier": "HP:0034335", + "Inheritance modifier": "HP:0034335", + "Splenic infarction": "HP:0034336", + "Spleen infarct": "HP:0034336", + "Spleen infarction": "HP:0034336", + "Splenic infarct": "HP:0034336", + "Claw hand deformity": "HP:0034337", + "Imprinted": "HP:0034338", + "Pseudoautosomal inheritance": "HP:0034339", + "Pseudoautosomal region inheritance": "HP:0034339", + "Pseudoautosomal dominant inheritance": "HP:0034340", + "monoallelic_PAR": "HP:0034340", + "Pseudoautosomal recessive inheritance": "HP:0034341", + "biallelic_PAR": "HP:0034341", + "Trapezius muscle aplasia": "HP:0034342", + "Requires heterozygosity": "HP:0034343", + "Female-limited expression": "HP:0034344", + "Mendelian inheritance": "HP:0034345", + "Nesidioblastosis": "HP:0034346", + "Greater auricular nerve thickening": "HP:0034347", + "Palpable great auricular nerve": "HP:0034347", + "Subpulmonary stenosis": "HP:0034348", + "Infundibular pulmonary stenosis": "HP:0034348", + "Infundibular pulmonic stenosis": "HP:0034348", + "Subvalvar pulmonary stenosis": "HP:0034348", + "Subvalvar pulmonic stenosis": "HP:0034348", + "Subvalvular pulmonary stenosis": "HP:0034348", + "Subvalvular pulmonic stenosis": "HP:0034348", + "Supravalvar pulmonary stenosis": "HP:0034349", + "Supravalvar pulmonnic stenosis": "HP:0034349", + "Supravalvular pulmonary stenosis": "HP:0034349", + "Supravalvular pulmonic stenosis": "HP:0034349", + "Valvular pulmonary stenosis": "HP:0034350", + "Neuromyotonia": "HP:0034351", + "Peripheral nerve hyperexcitability": "HP:0034351", + "Bile duct polyp": "HP:0034352", + "Appendicular spasticity": "HP:0034353", + "Extremity spasticity": "HP:0034353", + "Limb spasticity": "HP:0034353", + "Spastic extremities": "HP:0034353", + "Spastic limb": "HP:0034353", + "Spastic limbs": "HP:0034353", + "Spasticity of extremities": "HP:0034353", + "Spasticity of extremity": "HP:0034353", + "Spasticity of limbs": "HP:0034353", + "Trichoschisis": "HP:0034354", + "White cerebellum sign": "HP:0034355", + "Impaired renal tubular reabsorption of low molecular weight protein": "HP:0034356", + "Increased low molecular weight protein excretion": "HP:0034356", + "Impaired renal tubular reabsorption of glucose": "HP:0034357", + "Impaired renal tubular reabsorption of sodium": "HP:0034358", + "Impaired renal tubular reabsorption of phosphate": "HP:0034359", + "Action myoclonus": "HP:0034360", + "Redundant umbilical skin": "HP:0034361", + "Dull foveal reflex": "HP:0034362", + "Decreased foveal light reflex": "HP:0034362", + "Muted foveal light reflex": "HP:0034362", + "Poor foveal light reflex": "HP:0034362", + "Corneal pterygium": "HP:0034363", + "Surfer's eye": "HP:0034363", + "Wing-shaped conjunctiva": "HP:0034363", + "Fibrofatty replacement of right ventricular myocardium": "HP:0034364", + "Elevated circulating alpha-aminoadipic semialdehyde concentration": "HP:0034365", + "Elevated circulating piperideine-6-carboxylic acid concentration": "HP:0034365", + "Fracture blister": "HP:0034366", + "Decreased circulating beta-mannosidase activity": "HP:0034367", + "Urolithiasis": "HP:0034368", + "Decreased level of coenzyme Q10 in skeletal muscle": "HP:0034369", + "Abnormal muscle tissue metabolite concentration": "HP:0034370", + "Reduced circulating prekallikrein concentration": "HP:0034371", + "Internal tibial torsion": "HP:0034372", + "Internal tibial rotation": "HP:0034372", + "External tibial torsion": "HP:0034373", + "External tibial rotation": "HP:0034373", + "Trident acetabulum": "HP:0034374", + "Trident acetabula": "HP:0034374", + "Spherophakia": "HP:0034375", + "Atrioventricular valve regurgitation": "HP:0034376", + "Single atrioventricular valve regurgitation": "HP:0034377", + "Urethrovesical occlusion": "HP:0034378", + "obsolete Vascular granular osmiophilic material deposition": "HP:0034379", + "Juvenile type testicular granulosa cell tumor": "HP:0034380", + "Central nervous system axonal spheroid": "HP:0034381", + "CNS axonal spheroid": "HP:0034381", + "Disease remission": "HP:0034382", + "Elevated circulating biliverdin concentration": "HP:0034383", + "Elevated circulating insulin:C-peptide ratio": "HP:0034384", + "Abnormal left ventricular endsystolic diameter": "HP:0034385", + "Reduced left ventricular endsystolic diameter": "HP:0034386", + "Bacterial encephalitis": "HP:0034387", + "Hilar lymph node enlargement": "HP:0034388", + "Hilar adenopathy": "HP:0034388", + "Hilar lymphadenopathy": "HP:0034388", + "Pulmonary vein varix": "HP:0034389", + "Pulmonary vein dilatation": "HP:0034389", + "Decreased CSF glycine concentration": "HP:0034390", + "Glycine low in CSF": "HP:0034390", + "Elbow contracture": "HP:0034391", + "Joint contracture": "HP:0034392", + "Contracture": "HP:0034392", + "Elbow extension contracture": "HP:0034393", + "Forearm supination contracture": "HP:0034394", + "Supination contracture of the forearm": "HP:0034394", + "Forearm pronation contracture": "HP:0034395", + "Pronation contracture of the forearm": "HP:0034395", + "Hippocampal malrotation": "HP:0034396", + "Claw toe deformity": "HP:0034397", + "Toe deformity": "HP:0034398", + "Prolonged central motor conduction time": "HP:0034399", + "Circumferential skin creases on extremities": "HP:0034400", + "Atypical teratoid/rhabdoid tumor": "HP:0034401", + "Rhabdoid tumor of the kidney": "HP:0034402", + "Malignant rhabdoid tumor of the kidney": "HP:0034402", + "Malignant rhabdoid tumour of the kidney": "HP:0034402", + "Subcutaneous panniculitis-like T-cell lymphoma": "HP:0034403", + "Fungal hyphae in sputum": "HP:0034404", + "Enlarged tectum": "HP:0034405", + "Thick tectum": "HP:0034405", + "Elevated CSF angiotensin-converting enzyme concentration": "HP:0034406", + "Angiotensin-converting enzyme (ACE) high in CSF": "HP:0034406", + "Angiotensin-converting enzyme high in CSF": "HP:0034406", + "Reduced circulating 3-ketoacyl-CoA thiolase concentration": "HP:0034407", + "3-ketoacyl-CoA thiolase (THIO) deficiency": "HP:0034407", + "Solitary angiokeratoma": "HP:0034408", + "Fordyce angiokeratoma": "HP:0034409", + "Angiokeratoma circumscriptum naeviforme": "HP:0034410", + "Angiokeratoma of Mibelli": "HP:0034411", + "Laryngeal mass": "HP:0034412", + "Palate mass": "HP:0034413", + "Thick oral frenulum": "HP:0034414", + "oral frenulum, thick": "HP:0034414", + "Tooth avulsion": "HP:0034415", + "Avulsed tooth": "HP:0034415", + "Teeth: avulsion": "HP:0034415", + "Torn oral frenulum": "HP:0034416", + "Laceration of oral frenulum": "HP:0034416", + "Oral frenulum, torn": "HP:0034416", + "Intraoral laceration": "HP:0034417", + "Intraoral lacerations": "HP:0034417", + "Erythematous oral mucosa": "HP:0034418", + "Oral mucosa erythema": "HP:0034418", + "Mitral chordae tendinae rupture": "HP:0034419", + "Flail mitral valve leaflet": "HP:0034419", + "Mitral chordae tendineae rupture": "HP:0034419", + "History of cardiovascular procedure": "HP:0034420", + "Ejection click": "HP:0034421", + "Cardiac click sound on auscultation": "HP:0034421", + "Cryofibrinogenemia": "HP:0034422", + "triggered by allergens": "HP:0034423", + "Clicking tinnitus": "HP:0034424", + "Reduced hair sulfur content": "HP:0034425", + "Hair sulfur content reduced": "HP:0034425", + "Hair sulphur content reduced": "HP:0034425", + "Chromhidrosis": "HP:0034426", + "Purulent eye discharge": "HP:0034427", + "Mucopurulent discharge from the eye": "HP:0034427", + "Megaloblepharon": "HP:0034428", + "Bacteria in cerebrospinal fluid": "HP:0034429", + "Bacteria in CSF": "HP:0034429", + "Abnormal joint physiology": "HP:0034430", + "Joint crepitus": "HP:0034431", + "Intertriginous distribution": "HP:0034432", + "Intertriginous distribution of skin lesions": "HP:0034432", + "Distributed along skin tension lines": "HP:0034433", + "Distributed along Langer's lines": "HP:0034433", + "Lesions follow lines of cleavage": "HP:0034433", + "Abnormal communication": "HP:0034434", + "Abnormal eye contact": "HP:0034435", + "Gaze avoidance": "HP:0034436", + "Gaze aversion": "HP:0034436", + "Excessive eye contact": "HP:0034437", + "Balanitis": "HP:0034438", + "Instep location": "HP:0034439", + "Instep localization to skin abnormality": "HP:0034439", + "Ameliorated by ultraviolet light exposure": "HP:0034440", + "Ultraviolet exposure improves condition": "HP:0034440", + "Decreased circulating aspartic acid concentration": "HP:0034441", + "Aspartic acid low in blood": "HP:0034441", + "Abnormal circulating erythropoietin concentration": "HP:0034442", + "Reduced circulating erythropoietin concentration": "HP:0034443", + "Erythropoietin low in blood": "HP:0034443", + "Abnormal gamma-glutamyltransferase level": "HP:0034444", + "Reduced gamma-glutamyltransferase level": "HP:0034445", + "Gamma-glutamyl transferase low in blood": "HP:0034445", + "Elevated circulating histamine concentration": "HP:0034446", + "Histamine high in blood": "HP:0034446", + "Increased circulating interleukin 18 concentration": "HP:0034447", + "IL-18 high in blood": "HP:0034447", + "Abnormal phytanic acid:pristanic acid ratio": "HP:0034448", + "Abnormal phytanic acid to pristanic acid ratio": "HP:0034448", + "Abnormal phytanic acid/pristanic acid ratio": "HP:0034448", + "Increased phytanic acid:pristanic acid ratio": "HP:0034449", + "Phytanic acid to pristanic acid ratio high": "HP:0034449", + "Decreased phytanic acid:pristanic acid ratio": "HP:0034450", + "Phytanic acid to pristanic acid ratio low": "HP:0034450", + "Rectovesical fistula": "HP:0034451", + "Vesicorectal fistula": "HP:0034451", + "Rectoureteral fistula": "HP:0034452", + "Hypoplastic umbilicus": "HP:0034453", + "Umbilicus hypoplastic": "HP:0034453", + "Arachnoid granulation": "HP:0034454", + "Increased CSF taurine concentration": "HP:0034455", + "Taurine high in CSF": "HP:0034455", + "Elevated circulating glutathione concentration": "HP:0034456", + "Glutathione high in blood": "HP:0034456", + "Hawkinsinuria": "HP:0034457", + "Hawkinsin high in urine": "HP:0034457", + "Elevated urinary phenylpyruvic acid level": "HP:0034458", + "Phenylpyruvic acid high in urine": "HP:0034458", + "Ameliorated by lumbar puncture": "HP:0034459", + "Lumbar puncture relieves symptoms": "HP:0034459", + "Increased CSF uracil concentration": "HP:0034460", + "Elevated urine kynurenine level": "HP:0034461", + "Kynurenine high in urine": "HP:0034461", + "Increased CSF L-alloisoleucine concentration": "HP:0034462", + "L-alloisoleucine high in CSF": "HP:0034462", + "Hydroxylysinemia": "HP:0034463", + "Hydroxylysine present in blood": "HP:0034463", + "Homocitrullinuria": "HP:0034464", + "Homocitrulline present in urine": "HP:0034464", + "2-hydroxyadipic aciduria": "HP:0034465", + "2-hydroxyadipic acid high in urine": "HP:0034465", + "Homoargininuria": "HP:0034466", + "Homoarginine high in urine": "HP:0034466", + "Increased urinary cysteine level": "HP:0034467", + "Gastric xanthoma": "HP:0034468", + "Gastric xanthomas": "HP:0034468", + "Gastric xanthomata": "HP:0034468", + "Decreased stool elastase level": "HP:0034469", + "Elastase low in stool": "HP:0034469", + "Elevated stool chloride content": "HP:0034470", + "Chloride high in stool": "HP:0034470", + "Elevations in faecal chloride concentration": "HP:0034470", + "Elevations in fecal chloride concentration": "HP:0034470", + "Increased fecal coproporphyrin III:coproporphyrin I ratio": "HP:0034471", + "Coproporphyrin isomer III/I ratio high in stool": "HP:0034471", + "Increased faecal CIII:CI ratio": "HP:0034471", + "Increased fecal CIII:CI ratio": "HP:0034471", + "Increased fecal harderoporphyrin": "HP:0034472", + "Harderoporphyrin high in stool": "HP:0034472", + "Increased fecal heptacarboxylporphyrin": "HP:0034473", + "Heptacarboxylporphyrin high in stool": "HP:0034473", + "Increased fecal pentacarboxylporphyrin": "HP:0034474", + "Pentacarboxylporphyrin high in stool": "HP:0034474", + "Increased fecal isocoproporphyrin": "HP:0034475", + "Isocoproporphyrin high in stool": "HP:0034475", + "Positive fecal Clostridium botulinum test": "HP:0034476", + "Clostridium botulinum toxin in stool": "HP:0034476", + "Perihepatic adhesions": "HP:0034477", + "Peri-hepatic adhesions": "HP:0034477", + "Dilated vas deferens": "HP:0034478", + "Vas deferens dilated": "HP:0034478", + "Enlarged epididymis": "HP:0034479", + "Epididymis enlarged": "HP:0034479", + "Absent epididymidis": "HP:0034480", + "Absent epididymides": "HP:0034480", + "Epididymides absent": "HP:0034480", + "Atypical gestures": "HP:0034481", + "Abnormal spinal cord physiology": "HP:0034482", + "Bone marrow vacuolated lymphocytes": "HP:0034483", + "Bone marrow: vacuolated lymphocytes": "HP:0034483", + "Spinal cord calcifications": "HP:0034484", + "Neuroepithelial cyst": "HP:0034485", + "Glioependymal cyst": "HP:0034485", + "Neuroglial cyst": "HP:0034485", + "Reduced circulating interleukin 7 concentration": "HP:0034486", + "IL-7 low in blood": "HP:0034486", + "Increased circulating interleukin 12 concentration": "HP:0034487", + "IL-12 high in blood": "HP:0034487", + "Increased circulating interleukin 13 concentration": "HP:0034488", + "IL-13 high in blood": "HP:0034488", + "Increased circulating interleukin 2 concentration": "HP:0034489", + "IL-2 high in blood": "HP:0034489", + "Increased circulating interleukin 4 concentration": "HP:0034490", + "IL-4 high in blood": "HP:0034490", + "Increased circulating interleukin 5 concentration": "HP:0034491", + "IL-5 high in blood": "HP:0034491", + "Salpingitis": "HP:0034492", + "Tubo-ovarian abscess": "HP:0034493", + "Opacified paranasal sinuses": "HP:0034494", + "Paranasal sinuses opacification": "HP:0034494", + "Paranasal sinuses opacified": "HP:0034494", + "Elevated brain glutamine level by MRS": "HP:0034495", + "Abnormal brain glutamine level by MRS": "HP:0034496", + "Increased urinary hexanoic acid level": "HP:0034497", + "Hepatic focal nodular hyperplasia": "HP:0034498", + "Focal nodular hyperplasia": "HP:0034498", + "Increased bone marrow iron": "HP:0034499", + "Bone marrow: iron stores increased": "HP:0034499", + "Glenoid fracture": "HP:0034500", + "Widened mediastinum": "HP:0034501", + "Mediastinal widening": "HP:0034501", + "Narrow mediastinum": "HP:0034502", + "Ovarian torsion": "HP:0034503", + "Septate gallbladder": "HP:0034504", + "Gallbladder wall thickening": "HP:0034505", + "Gallbladder enlargement": "HP:0034506", + "Gallbladder enlarged": "HP:0034506", + "Gallbladder mass": "HP:0034507", + "Fingerprint bodies": "HP:0034508", + "Muscle biopsy: fingerprint bodies at periphery of muscle fibers": "HP:0034508", + "Muscle biopsy: fingerprint bodies at periphery of muscle fibres": "HP:0034508", + "Spheroid bodies": "HP:0034509", + "Abnormal muscle tissue enzyme activity or level": "HP:0034510", + "Reduced muscle aconitase activity": "HP:0034511", + "Muscle biopsy: aconitase deficiency": "HP:0034511", + "Transitional-cell carcinoma of the ureter": "HP:0034512", + "Increased circulating Interferon-alpha concentration": "HP:0034513", + "Interferon-alpha high in blood": "HP:0034513", + "Liver hamartoma": "HP:0034514", + "Ameloblastoma": "HP:0034515", + "Ameliorated by ketogenic diet": "HP:0034516", + "Ketogenic diet improves symptoms": "HP:0034516", + "Pretibial hyperpigmentation": "HP:0034517", + "Gingival fragility": "HP:0034518", + "Gum fragility": "HP:0034518", + "Muscle fiber fuchsinophilic inclusion bodies": "HP:0034519", + "Esophageal myenteric plexus degeneration": "HP:0034520", + "Periorificial hyperkeratosis": "HP:0034521", + "Eosinophilic lymph node infiltration": "HP:0034522", + "Blood parasite": "HP:0034523", + "Parasitemia": "HP:0034523", + "Bloodstream trypomastigotes": "HP:0034524", + "Adamantinoma": "HP:0034525", + "Abnormal enzyme activity in muscle tissue": "HP:0034526", + "Reduced muscle phosphoglycerate kinase activity": "HP:0034527", + "Reduced fibroblast type III procollagen synthesis": "HP:0034528", + "Type III procollagen synthesis by fibroblasts low": "HP:0034528", + "Reduced muscle myoadenylate deaminase activity": "HP:0034529", + "Muscle biopsy: myoadenylate deaminase low": "HP:0034529", + "Bent long bone": "HP:0034530", + "Angulated long bone": "HP:0034530", + "Tracheal rupture": "HP:0034531", + "Increased myocardial glycogen content": "HP:0034532", + "Increased glycogen in myocardium": "HP:0034532", + "Triggered by monoamine oxidase inhibitor": "HP:0034533", + "MAO inhibitors trigger attacks": "HP:0034533", + "Triggered by MAO inhibitor": "HP:0034533", + "Triggered by serotonin reuptake inhibitor": "HP:0034534", + "Serotonin uptake inhibitors trigger attacks": "HP:0034534", + "Ameliorated by acetazolamide": "HP:0034535", + "Acetazolamide relieves attacks": "HP:0034535", + "Ameliorated by exposure to medication": "HP:0034536", + "Ameliorated by vitamin B12": "HP:0034537", + "Vitamin B12 treatment produces improvement": "HP:0034537", + "Ameliorated by thiamine": "HP:0034538", + "Thiamine: positive response": "HP:0034538", + "Ameliorated by dantrolene": "HP:0034539", + "Dantrolene reduces symptoms": "HP:0034539", + "Ameliorated by biotin": "HP:0034540", + "Biotin supplementation produces improvement": "HP:0034540", + "Reduced bone-marrow megakaryocyte size": "HP:0034541", + "Hairshafts with longitudinal grooves": "HP:0034542", + "Mycobacterium bacteremia": "HP:0034543", + "Mycobacterium present on blood culture": "HP:0034543", + "Decreased delta-aminolevulinate dehydratase activity": "HP:0034544", + "Delta-aminolevulinate dehydratase activity low": "HP:0034544", + "Delta-aminolevulinate dehydratase deficiency": "HP:0034544", + "Elevated circulating pancreatic secretory trypsin inhibitor activity": "HP:0034545", + "Elevated circulating SPINK1 activity": "HP:0034545", + "Elevated circulating serine protease inhibitor Kazal type I": "HP:0034545", + "Presence of uterus in 46,XY individual": "HP:0034546", + "Intraluminal meconium calcification": "HP:0034547", + "Portal vein hypoplasia": "HP:0034548", + "Hypoplasia of the portal veins": "HP:0034548", + "Adrenal leiomyoma": "HP:0034549", + "Small intestinal lymphoplasmacytic infiltrate": "HP:0034550", + "Triggered by neuroleptic medication": "HP:0034551", + "Triggered by antipsychotic medication": "HP:0034551", + "Abnormal peroxisomal morphology": "HP:0034552", + "Absence of peroxisomes": "HP:0034553", + "Paucity of peroxisomes": "HP:0034554", + "Reduced sulfide:quinone oxidoreductase activity": "HP:0034555", + "Deficit at segmental level": "HP:0034556", + "Rhabdoid tumor": "HP:0034557", + "Rhabdoid tumor of the ovary": "HP:0034558", + "Cardiac rhabdoid tumor": "HP:0034559", + "Malignant rhabdoid tumor of the bladder": "HP:0034560", + "Malignant rhabdoid tumor of liver": "HP:0034561", + "Malignant rhabdoid tumor of muscle": "HP:0034562", + "Neck teratoma": "HP:0034563", + "Kidney teratoma": "HP:0034564", + "Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level": "HP:0034565", + "Elevated urinary AICA-riboside level": "HP:0034565", + "Aplasia of posterior communicating artery": "HP:0034566", + "Absence of both posterior communicating arteries": "HP:0034566", + "Optic pit": "HP:0034567", + "Optic disc pit": "HP:0034567", + "Optic nerve pit": "HP:0034567", + "Ameliorated by naloxone": "HP:0034568", + "Ameliorated by pyridoxal phosphate": "HP:0034569", + "Thickened intrahepatic portal venules": "HP:0034570", + "Ovarian fibrosis": "HP:0034571", + "Pigment incontinence": "HP:0034572", + "Pigmentary incontinence in papillary dermis": "HP:0034572", + "Abnormal epidermal protein expression": "HP:0034573", + "Reduced epidermal keratin 10 protein expression": "HP:0034574", + "Reduced epidermal collagen IV protein expression": "HP:0034575", + "Skin biopsy: collagen IV antibody staining abnormal or absent": "HP:0034575", + "Reduced epidermal bullous pemphigoid antigen 1 protein expression": "HP:0034576", + "Skin biopsy: BPAG1-e antibody staining abnormal or absent": "HP:0034576", + "Reduced epidermal collagen VII protein expression": "HP:0034577", + "Skin biopsy: collagen VII antibody staining abnormal or absent": "HP:0034577", + "Reduced epidermal collagen XVII protein expression": "HP:0034578", + "Skin biopsy: collagen XVII antibody staining abnormal or absent": "HP:0034578", + "Reduced epidermal integrin alpha6beta4 protein expression": "HP:0034579", + "Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent": "HP:0034579", + "Reduced epidermal plectin protein expression": "HP:0034580", + "Skin biopsy: plectin antibody staining abnormal or absent": "HP:0034580", + "Bloodstream Trypanosoma cruzi": "HP:0034581", + "Trypanosoma cruzi present on peripheral blood smear": "HP:0034581", + "Abnormal lymph node cell composition": "HP:0034582", + "Lipid-laden lymph node macrophages": "HP:0034583", + "Abnormal pancreatic acinus morphology": "HP:0034584", + "Cochlear nerve hypoplasia": "HP:0034585", + "Glutathionuria": "HP:0034586", + "Glutathione high in urine": "HP:0034586", + "Nevus psiloliparus": "HP:0034587", + "Crypt hyperplasia": "HP:0034588", + "Increased circulating dehydroepiandrosterone-sulfate concentration": "HP:0034589", + "Abnormal circulating thyroxine-binding globulin concentration": "HP:0034590", + "Decreased circulating thyroxine-binding globulin concentration": "HP:0034591", + "Thyroxine-binding globulin low in blood": "HP:0034591", + "Elevated circulating beta-aminoisobutyric acid concentration": "HP:0034592", + "Beta-aminoisobutyric acid high in blood": "HP:0034592", + "Elevated circulating dihydrouracil concentration": "HP:0034593", + "Dihydrouracil high in blood": "HP:0034593", + "Elevated circulating 5,6-dihydrouracil concentration": "HP:0034593", + "Elevated circulating dihydrothymine concentration": "HP:0034594", + "Dihydrothymine high in blood": "HP:0034594", + "Elevated circulating N-carbamoyl-beta-alanine concentration": "HP:0034595", + "N-carbamoyl-beta-alanine acid high in blood": "HP:0034595", + "Elevated ciculating 5-hydroxymethyluracil concentration": "HP:0034596", + "5-hydroxymethyluracil high in blood": "HP:0034596", + "Decreased CSF creatinine concentration": "HP:0034597", + "Elevated urinary creatine level": "HP:0034598", + "Creatine high in urine": "HP:0034598", + "Decreased circulating biotin concentration": "HP:0034599", + "Biotin low in blood": "HP:0034599", + "Elevated circulating thrombopoietin concentration": "HP:0034600", + "Thrombopoietin high in blood": "HP:0034600", + "Decreased circulating C1q concentration": "HP:0034601", + "Decreased circulating apolipoprotein A-II concentration": "HP:0034602", + "Apolipoprotein A-II low in blood": "HP:0034602", + "Elevated circulating CA19-9 concentration": "HP:0034603", + "Elevated circulating cancer antigen 19-9 concentration": "HP:0034603", + "Elevated circulating carbohydrate antigen 19-9 concentration": "HP:0034603", + "Elevated circulating sialylated Lewis a antigen concentration": "HP:0034603", + "Elevated circulating DOPA concentration": "HP:0034604", + "DOPA high in blood": "HP:0034604", + "Elevated circulating 3,4-dihydroxyphenylalanine concentration": "HP:0034604", + "Elevated CSF DOPA concentration": "HP:0034605", + "Elevated CSF 3,4-dihydroxyphenylalanine concentration": "HP:0034605", + "Elevated circulating porphyrin concentration": "HP:0034606", + "Porphyrin high in blood": "HP:0034606", + "Decreased circulating 17-hydroxyprogesterone concentration": "HP:0034607", + "Decreased circulating transcobalamin II concentration": "HP:0034608", + "Transcobalamin II low in blood": "HP:0034608", + "Polychromasia": "HP:0034609", + "Polychromasia on peripheral blood smear": "HP:0034609", + "Decreased circulating myo-inositol concentration": "HP:0034610", + "Myoinositol low in blood": "HP:0034610", + "Elevated circulating arabinitol concentration": "HP:0034611", + "Elevated circulating D-arabinitol concentration": "HP:0034611", + "Elevated urine arabitol level": "HP:0034612", + "Arabitol high in urine": "HP:0034612", + "Elevated urine erythritol level": "HP:0034613", + "Erythritol high in urine": "HP:0034613", + "Elevated circulating erythritol concentration": "HP:0034614", + "Erythritol high in blood": "HP:0034614", + "Reduced circulating matrix metalloproteinase 2 concentration": "HP:0034615", + "Abnormal circulating coenzyme concentration": "HP:0034616", + "Elevated circulating S-adenosyl methionine concentration": "HP:0034617", + "S-adenosylmethionine high in blood": "HP:0034617", + "Abnormal circulating membrane cofactor protein concentration": "HP:0034618", + "Decreased circulating membrane cofactor protein concentration": "HP:0034619", + "Decreased circulating CD46 concentration": "HP:0034619", + "MCP (membrane cofactor protein) low in blood": "HP:0034619", + "Elevated circulating membrane cofactor protein concentration": "HP:0034620", + "Elevated circulating CD46 concentration": "HP:0034620", + "Hepatic xanthomatosis": "HP:0034621", + "Hepatic xanthomas": "HP:0034621", + "Adrenal xanthomatosis": "HP:0034622", + "Adrenal xanthomas": "HP:0034622", + "Splenic xanthomatosis": "HP:0034623", + "Spleen xanthomas": "HP:0034623", + "Spinal cord xanthomatosis": "HP:0034624", + "Spinal cord xanthomas": "HP:0034624", + "Brain xanthomatosis": "HP:0034625", + "Brain xanthomas": "HP:0034625", + "Brain xanthomata": "HP:0034625", + "Pulmonary xanthomatosis": "HP:0034626", + "Lung xanthoma": "HP:0034626", + "Pulmonary xanthoma": "HP:0034626", + "Bone marrow xanthomatosis": "HP:0034627", + "Bone marrow xanthomas": "HP:0034627", + "Lymph node xanthomatosis": "HP:0034628", + "Lymph node xanthomas": "HP:0034628", + "Xanthoma of bone": "HP:0034629", + "Bone xanthoma": "HP:0034629", + "Ameliorated by folinic acid": "HP:0034630", + "Ameliorated by leucovorin": "HP:0034630", + "Triggered by succinylcholine anesthetic": "HP:0034631", + "Triggered by suxamethonium": "HP:0034631", + "Exogenous androgen exposure": "HP:0034632", + "Androgen exposure, exogenous": "HP:0034632", + "Reduced muscle enolase activity": "HP:0034633", + "Muscle biopsy: beta-enolase activity low": "HP:0034633", + "Dopamine antagonist exposure": "HP:0034634", + "Dopamine antagonist treatment history": "HP:0034634", + "Muscle fiber granulofilamentous inclusion bodies": "HP:0034635", + "Bone marrow myeloid vacuolization": "HP:0034636", + "Bone marrow: myeloid vacuolization": "HP:0034636", + "Vacuolization of bone marrow myeloid precursors": "HP:0034636", + "Pulmonary cylindroma": "HP:0034637", + "Colonic fibrinopurulent exudate": "HP:0034638", + "Bloodstream microfilaria": "HP:0034639", + "Skin infectious agent": "HP:0034640", + "Dermal microfilaria": "HP:0034641", + "Dermal microfilariae": "HP:0034641", + "Dermal papillary IgA deposition": "HP:0034642", + "Granular IgA deposits at the dermal papillae": "HP:0034642", + "Dermal immune complex deposition": "HP:0034643", + "Abnormal liver metabolite concentration": "HP:0034644", + "Hepatic polyglucosan accumulation": "HP:0034645", + "Accumulation of polyglucosan bodies in the liver": "HP:0034645", + "Urinary bladder neurofibroma": "HP:0034646", + "Bladder neurofibroma": "HP:0034646", + "Synovial granuloma": "HP:0034647", + "Elevated urine fumaric acid level": "HP:0034648", + "Elevated urine fumarate level": "HP:0034648", + "Elevated urine N-acetylaspartic acid level": "HP:0034649", + "Elevated urinary N-acetylaspartic acid level": "HP:0034649", + "N-acetylaspartate high in urine": "HP:0034649", + "Elevated urine suberylglycine level": "HP:0034650", + "Suberylglycine high in urine": "HP:0034650", + "Elevated urine phenylpropionylglycine level": "HP:0034651", + "Phenylpropionylglycine present in urine": "HP:0034651", + "Elevated urine octenedioic acid level": "HP:0034652", + "Octenedioic acid high in urine": "HP:0034652", + "Monocarboxylic aciduria": "HP:0034653", + "Elevated urine octanoic acid level": "HP:0034654", + "Elevated urine glutaconic acid level": "HP:0034655", + "Elevated urine 3-hydroxyglutaric level": "HP:0034656", + "3-hydroxyglutaric acid high in urine": "HP:0034656", + "Elevated urine malonic acid level": "HP:0034657", + "Malonic acid present in urine": "HP:0034657", + "Elevated urine propionylglycine level": "HP:0034658", + "Elevated urine tiglylglycine level": "HP:0034659", + "Elevated urine 2-methylacetoacetic acid level": "HP:0034660", + "2-methylacetoacetic acid present in urine": "HP:0034660", + "Elevated urine 3-hydroxypropionic acid level": "HP:0034661", + "3-hydroxypropionic acid high in urine": "HP:0034661", + "Elevated urine 2-methylcitric acid level": "HP:0034662", + "2-methylcitric acid high in urine": "HP:0034662", + "Elevated urine 2-methylcitrate level": "HP:0034662", + "Elevated urine 4-hydroxyisovaleric acid level": "HP:0034663", + "4-hydroxyisovaleric acid present in urine": "HP:0034663", + "Elevated urine 2-hydroxy-3-methylvaleric acid level": "HP:0034664", + "2-hydroxy-3-methylvaleric acid high in urine": "HP:0034664", + "Shoulder contracture": "HP:0034665", + "Shoulder extension contracture": "HP:0034666", + "Thumb extension contracture": "HP:0034667", + "Tongue myxoma": "HP:0034668", + "Abnormal knee morphology": "HP:0034669", + "Abnormal knee physiology": "HP:0034670", + "Knee contracture": "HP:0034671", + "Contracture of knee": "HP:0034671", + "Contracture of the knees": "HP:0034671", + "Knee contractures": "HP:0034671", + "Knee extension contracture": "HP:0034672", + "Abnormal ankle morphology": "HP:0034673", + "Abnormal ankle physiology": "HP:0034674", + "Toe joint contracture": "HP:0034675", + "Extension contracture of toe": "HP:0034676", + "Ankle contracture": "HP:0034677", + "Forefoot pronation contracture": "HP:0034678", + "Forefoot supination contracture": "HP:0034679", + "Forefoot adduction contracture": "HP:0034680", + "Finger joint contracture": "HP:0034681", + "Extension contracture of finger": "HP:0034682", + "Reduced muscle telethonin level": "HP:0034683", + "Muscle biopsy: telethonin low or absent": "HP:0034683", + "Abnormal enzyme concentration or activity": "HP:0034684", + "Abnormal liver enzyme activity or concentration": "HP:0034685", + "Abnormal hepatic enzyme activity or concentration": "HP:0034685", + "Reduced hepatic urocanase activity": "HP:0034686", + "Liver biopsy: urocanase activity low": "HP:0034686", + "Impaired cerebroside sulfate hydrolysis": "HP:0034687", + "Reduced peroxisomal glutaryl-CoA oxidase activity": "HP:0034688", + "Reduced sterol 27-hydroxylase activity": "HP:0034689", + "Reduced short-chain acyl-CoA dehydrogenase activity": "HP:0034690", + "Reduced 3-phosphoglycerate dehydrogenase activity": "HP:0034691", + "Elongated mitochondria": "HP:0034692", + "Reduced hepatic methionine adenosyltransferase activity": "HP:0034693", + "Substantia nigra dopaminergic neuron loss": "HP:0034694", + "Melanin reduced in substantia nigra": "HP:0034694", + "Intramuscular lipoma": "HP:0034696", + "Cutaneous telangiectasia": "HP:0034697", + "Abnormal aromatase activity": "HP:0034698", + "Elevated aromatase activity": "HP:0034699", + "Reduced aromatase activity": "HP:0034700", + "Corneal amyloidosis": "HP:0034701", + "Abnormal keratinocyte morphology": "HP:0034702", + "Keratinocyte vacuolization": "HP:0034703", + "Keratinocyte vacuolation": "HP:0034703", + "Vacuolated keratinocytes": "HP:0034703", + "Parotid gland adenocarcinoma": "HP:0034704", + "Pulmonary vasculitis": "HP:0034705", + "Lung biopsy: vasculitis": "HP:0034705", + "Reduced hepatic D-glycerate kinase activity": "HP:0034706", + "Lymph-node hemophagocytosis": "HP:0034707", + "Superior pubic ramus hypoplasia": "HP:0034708", + "Uterine adenofibroma": "HP:0034709", + "Pulmonary hamartoma": "HP:0034710", + "Peripheral axonal distension": "HP:0034711", + "Decreased circulating alpha-mannosidase activity": "HP:0034712", + "Abnormal hepatocyte morphology": "HP:0034713", + "Hepatic melanin-like lysosomal pigmentation": "HP:0034714", + "Reduced uroporphyrinogen decarboxylase activity": "HP:0034715", + "Reduced heme oxygenase activity": "HP:0034716", + "Swollen achromatic neurons in the cerebral cortex": "HP:0034717", + "Cerebral cortex Pick cells": "HP:0034717", + "Cerebral cortex swollen achromatic neurons": "HP:0034717", + "Vacuolated hepatocytes": "HP:0034718", + "Hepatocyte vacuolization": "HP:0034718", + "Lack of oocyte pronucleus formation": "HP:0034719", + "Self-healing squamous epithelioma": "HP:0034720", + "Elevated circulating pristanic acid concentration": "HP:0034721", + "Sarcoplasmic bodies": "HP:0034722", + "Elevated CSF hydroxyproline concentration": "HP:0034723", + "Reduced CSF cystine concentration": "HP:0034724", + "Cystine low in CSF": "HP:0034724", + "Abnormal circulating beta-mannosidase activity": "HP:0034725", + "Elevated circulating beta-mannosidase activity": "HP:0034726", + "Beta-mannosidase high in blood": "HP:0034726", + "Reduced circulating alpha-L-fucosidase activity": "HP:0034727", + "Abnormal circulating alpha-L-fucosidase activity": "HP:0034728", + "Elevated circulating alpha-L-fucosidase activity": "HP:0034729", + "Elevated circulating S-adenosyl-L-homocysteine concentration": "HP:0034730", + "Elevated AdoHcy concentration": "HP:0034730", + "Elevated circulating S-adenosyl-L-methionine concentration": "HP:0034731", + "High blood AdoMet": "HP:0034731", + "Exercise-triggered malignant hyperthermia": "HP:0034732", + "Exertional heat stroke": "HP:0034732", + "Malignant hyperthermia due to exercise": "HP:0034732", + "Anesthesic-triggered malignant hyperthermia": "HP:0034733", + "Malignant hyperthermia with anaesthesia": "HP:0034733", + "Malignant hyperthermia with anesthesia": "HP:0034733", + "Elevated CSF argininosuccinic acid concentration": "HP:0034734", + "Argininosuccinic acid high in CSF": "HP:0034734", + "Elevated CSF aspartylglucosamine concentration": "HP:0034735", + "Aspartylglucosamine high in CSF": "HP:0034735", + "Elevated circulating alpha-oxoadipic acid concentration": "HP:0034736", + "Alpha-oxoadipic acid high in blood": "HP:0034736", + "Abnormal erythrocyte metabolite concentration": "HP:0034737", + "Reduced erythrocyte glutathione concentration": "HP:0034738", + "Elevated CSF sarcosine concentration": "HP:0034739", + "Sarcosine high in CSF": "HP:0034739", + "Reduced CSF methionine concentration": "HP:0034740", + "Methionine low in CSF": "HP:0034740", + "Elevated circulating homoarginine concentration": "HP:0034741", + "Homoarginine high in blood": "HP:0034741", + "Elevated urinary formiminoglutamic acid level": "HP:0034742", + "Formiminoglutamic acid high in urine": "HP:0034742", + "Elevated CSF proline concentration": "HP:0034743", + "Elevated urinary S-sulfocysteine level": "HP:0034744", + "S-sulfocysteine high in urine": "HP:0034744", + "Elevated circulating S-sulfocysteine concentration": "HP:0034745", + "S-sulfocysteine high in blood": "HP:0034745", + "Sertoli cell hyperplasia": "HP:0034746", + "CSF infectious agent": "HP:0034747", + "CSF mycobacteria": "HP:0034748", + "Fungal bloodstream infection": "HP:0034749", + "Fungi in blood": "HP:0034749", + "Supraclavicular lymphadenopathy": "HP:0034750", + "Inguinal lymphadenopathy": "HP:0034751", + "Axillary lymphadenopathy": "HP:0034752", + "Positive Murphy sign": "HP:0034753", + "Murphy's sign": "HP:0034753", + "Murphy's sign positive": "HP:0034753", + "Sweeney's sign": "HP:0034753", + "Bilious emesis": "HP:0034754", + "Ameliorated by NSAID": "HP:0034755", + "Ameliorated by nonsteroidal anti-inflammatory drug": "HP:0034755", + "Fetal exposure history": "HP:0034756", + "Fetal medication or drug exposure": "HP:0034756", + "Foetal medication or drug exposure": "HP:0034756", + "Maternal exposure history": "HP:0034756", + "Fetal barbiturate exposure": "HP:0034757", + "Maternal barbiturate use": "HP:0034757", + "Fetal narcotic exposure": "HP:0034758", + "Maternal narcotic exposure": "HP:0034758", + "Ameliorated by ethosuximide": "HP:0034759", + "Reduced epidermal extracellular matrix protein 1 protein expression": "HP:0034760", + "Reduced epidermal ECM1 protein expression": "HP:0034760", + "Neurofibroma by anatomical location": "HP:0034761", + "Tongue neurofibroma": "HP:0034762", + "Cardiac neurofibroma": "HP:0034763", + "Gastric neurofibroma": "HP:0034764", + "Renal neurofibroma": "HP:0034765", + "Muscle fiber polyglucosan inclusion bodies": "HP:0034766", + "Muscle biopsy: polyglucosan accumulation": "HP:0034766", + "Abnormal rete ridge morphology": "HP:0034767", + "Rete ridge elongation": "HP:0034768", + "Elongation of rete ridges": "HP:0034768", + "Rete ridges elongated": "HP:0034768", + "Pulmonary Langerhans cell histiocytosis": "HP:0034769", + "Lumbar hypolordosis": "HP:0034770", + "Reduced lumbar lordosis": "HP:0034770", + "Battle sign": "HP:0034771", + "Battle sign bruise": "HP:0034771", + "Battle's sign": "HP:0034771", + "Decreased skull base length": "HP:0034772", + "Decreased cranial base length": "HP:0034772", + "Short skull base": "HP:0034772", + "Oscillopsia": "HP:0034773", + "Decreased blink rate": "HP:0034774", + "Blinking reduced": "HP:0034774", + "Abnormal blink rate": "HP:0034775", + "Elevated blink rate": "HP:0034776", + "Purulent sputum": "HP:0034777", + "Maternal hyperthyroidism": "HP:0034778", + "Perineal": "HP:0034779", + "Perineal distribution to finding": "HP:0034779", + "Perineal location": "HP:0034779", + "Gadolinium exposure": "HP:0034780", + "Purulent parotid gland drainage": "HP:0034781", + "Purulent Stensen duct drainage": "HP:0034781", + "Purulent drainage from Stensen duct": "HP:0034781", + "Obstipation": "HP:0034782", + "Lack of flatulence": "HP:0034782", + "No gas passage": "HP:0034782", + "Tympanic distended abdomen": "HP:0034782", + "Posttussive emesis": "HP:0034783", + "Vasculitis by anatomical site": "HP:0034784", + "Vasculitis by histology": "HP:0034785", + "Leukocytoclastic vasculitis": "HP:0034786", + "Accumulation of lipid droplets in small-bowel enterocytes": "HP:0034787", + "Pericardial friction rub": "HP:0034788", + "Cardiac rub": "HP:0034788", + "Muscular vasculitis": "HP:0034789", + "Skeletal muscle vasculitis": "HP:0034789", + "Abnormal muscle succinate dehydrogenase staining": "HP:0034790", + "Increased muscle succinate dehydrogenase staining": "HP:0034791", + "Decreased muscle succinate dehydrogenase staining": "HP:0034792", + "Small intestinal hamartoma": "HP:0034793", + "Pyriform sperm head": "HP:0034794", + "Pyriform head": "HP:0034794", + "Excess residual spermatozoal cytoplasm": "HP:0034795", + "Cardiomyocyte hyaline bodies": "HP:0034796", + "Hepatic hemophagocytosis": "HP:0034797", + "CSF hemophagocytosis": "HP:0034798", + "Hemophagocytosis in CSF": "HP:0034798", + "Splenic hemophagocytosis": "HP:0034799", + "Spleen hemophagocytosis": "HP:0034799", + "Urinary bladder granulomatosis": "HP:0034800", + "Urinary bladder granulomas": "HP:0034800", + "Epidermal necrosis": "HP:0034801", + "Exacerbated by flexion": "HP:0034802", + "Hemolacria": "HP:0034803", + "Bloody epiphora": "HP:0034803", + "Bloody tears": "HP:0034803", + "Red tears": "HP:0034803", + "Corneal foreign body sensation": "HP:0034804", + "Conjunctival foreign body sensation": "HP:0034804", + "Foreign body sensation in the eye": "HP:0034804", + "Buttock pain": "HP:0034805", + "Vaginal foreign body sensation": "HP:0034806", + "Paroxysmal nocturnal dyspnea": "HP:0034807", + "Eyelid pain": "HP:0034808", + "Abnormal sperm physiology": "HP:0034809", + "Small acrosomal area": "HP:0034810", + "Bent sperm flagella": "HP:0034811", + "Spermiation failure": "HP:0034812", + "Hypospermatogenesis": "HP:0034813", + "Conjunctival membrane": "HP:0034814", + "Extreme oligozoospermia": "HP:0034815", + "Mild oligozoospermia": "HP:0034816", + "Moderate oligozoospermia": "HP:0034817", + "Severe oligozoospermia": "HP:0034818", + "Iris nodule": "HP:0034819", + "Koeppe nodules": "HP:0034820", + "Koeppe iris nodules": "HP:0034820", + "Koeppe's nodules": "HP:0034820", + "Bussaca nodules": "HP:0034821", + "Abnormal CSF ion concentration": "HP:0034822", + "Decreased CSF copper concentration": "HP:0034823", + "Copper low in cerebrospinal fluid": "HP:0034823", + "Diffuse pulmonary lymphoid hyperplasia": "HP:0034824", + "Ameliorated by steroid medication": "HP:0034825", + "obsolete Triggered by medication exposure": "HP:0034826", + "Triggered by levothyroxin exposure": "HP:0034827", + "Reduced muscle laminin alpha-2 chain staining": "HP:0034828", + "Adrenal cortical sclerosis": "HP:0034829", + "Reduced hepatic fructose-1,6-phosphate aldolase activity": "HP:0034830", + "Pancreatic hamartoma": "HP:0034831", + "Liver angiomyolipoma": "HP:0034832", + "Hepatic angiomyolipoma": "HP:0034832", + "Cardiac lipoma": "HP:0034833", + "Peripheral nerve polyglucosan inclusion bodies": "HP:0034834", + "Cardiac polyglucosan accumulation": "HP:0034835", + "Cystic nephroma": "HP:0034836", + "Bbenign multilocular cystic nephroma": "HP:0034836", + "Multicystic nephroma": "HP:0034836", + "Multilocular cystic renal tumor": "HP:0034836", + "Multilocular cystic renal tumour": "HP:0034836", + "Polycystic nephroblastoma": "HP:0034836", + "Absent dermal elastic fibers": "HP:0034837", + "Cleavage at junction of stratum corneum and stratum granulosum": "HP:0034838", + "Lymphoid hyperplasia": "HP:0034839", + "Absence of epidermal lamellar bodies": "HP:0034840", + "Gastrointestinal granulomatosis": "HP:0034841", + "Enlarged sperm head vacuole": "HP:0034842", + "Ureteral hamartoma": "HP:0034843", + "Fetal methimazole exposure": "HP:0034844", + "Maternal methimazole exposure": "HP:0034844", + "Methimazole exposure during gestation": "HP:0034844", + "Fetal procarbazine exposure": "HP:0034845", + "Maternal procarbazine exposure": "HP:0034845", + "Procarbazine exposure during gestation": "HP:0034845", + "Fetal fluorouracil exposure": "HP:0034846", + "Fluorouracil exposure during gestation": "HP:0034846", + "Maternal fluorouracil exposure": "HP:0034846", + "Fetal cytarabine exposure": "HP:0034847", + "Cytarabine exposure during gestation": "HP:0034847", + "Maternal cytarabine exposure": "HP:0034847", + "Fetal tetracycline exposure": "HP:0034848", + "Maternal tetracycline exposure": "HP:0034848", + "Tetracycline exposure during gestation": "HP:0034848", + "Fetal quinine exposure": "HP:0034849", + "Maternal quinine exposure": "HP:0034849", + "Quinine exposure during gestation": "HP:0034849", + "Fetal cyclophosphamide exposure": "HP:0034850", + "Cyclophosphamide exposure during gestation": "HP:0034850", + "Maternal cyclophosphamide exposure": "HP:0034850", + "Fetal metronidazole exposure": "HP:0034851", + "Maternal metronidazole exposure": "HP:0034851", + "Metronidazole exposure during gestation": "HP:0034851", + "Fetal phenobarbital exposure": "HP:0034852", + "Maternal phenobarbital exposure": "HP:0034852", + "Phenobarbital exposure during gestation": "HP:0034852", + "Fetal phenytoin exposure": "HP:0034853", + "Maternal phenytoin exposure": "HP:0034853", + "Phenytoin exposure during gestation": "HP:0034853", + "Periumbilical": "HP:0034854", + "Maternal obesity during pregnancy": "HP:0034855", + "Maternal amniocentesis": "HP:0034856", + "Typified by highly variable age of onset": "HP:0034857", + "Abnormal leukocyte enzyme concentration or activity": "HP:0034858", + "Reduced tissue beta-glucuronidase activity": "HP:0034859", + "Beta-glucuronidase low in leukocytes": "HP:0034859", + "Reduced beta-glucuronidase activity in cultured fibroblasts": "HP:0034859", + "Reduced leukocyte beta-glucuronidase activity": "HP:0034859", + "Reduced leukocyte alpha-L-fucosidase activity": "HP:0034860", + "Reduced leukocyte arylsulfatase B activity": "HP:0034861", + "Reduced leukocyte steroid sulfatase activity": "HP:0034862", + "Reduced leukocyte arylsulfatase C activity": "HP:0034862", + "Reduced leukocyte arylsulfatase A activity": "HP:0034863", + "Decreased alpha-galactosidase A activity": "HP:0034864", + "Positive fecal parasite test": "HP:0034865", + "Positive stool parasite test": "HP:0034865", + "Parasites present on wet mount of stool": "HP:0034865", + "Positive stool infectious agent test": "HP:0034866", + "Positive stool giardia antigen": "HP:0034867", + "Entamoeba histolytica antibody positive in stool": "HP:0034868", + "Reduced erythrocyte free porphyrin concentration": "HP:0034869", + "Reduced circulating urocanic acid concentration": "HP:0034870", + "Urocanic acid low in blood": "HP:0034870", + "Decreased urinary epinephrine level": "HP:0034871", + "Decreased CSF epinephrine concentration": "HP:0034872", + "Decreased circulating epinephrine concentration": "HP:0034873", + "Decreased circulating norepinephrine concentration": "HP:0034874", + "Decreased urinary norepinephrine level": "HP:0034875", + "Decreased urinary metaepinephrine level": "HP:0034876", + "Decreased CSF metanephrine concentration": "HP:0034877", + "Decreased circulating metanephrine concentration": "HP:0034878", + "Ovarian mass": "HP:0034879", + "Adrenal mass": "HP:0034880", + "Uterine mass": "HP:0034881", + "Prostatic calculus": "HP:0034882", + "Prostatic calcul": "HP:0034882", + "Decreased portal vein velocity": "HP:0034883", + "Reduced portal venous flow": "HP:0034883", + "Uterine cervix mass": "HP:0034884", + "Abnormal urinary uromodulin level": "HP:0034885", + "Decreased urinary uromodulin level": "HP:0034886", + "Uromodulin low in urine": "HP:0034886", + "Increased urine phenylacetylglutamine level": "HP:0034887", + "Decreased urine guanidinoacetic acid level": "HP:0034888", + "Positive urine infectious agent nucleic acid test": "HP:0034889", + "Positive CMV urine nucleic acid test": "HP:0034890", + "Cytomegalovirus (CMV) PCR in urine positive": "HP:0034890", + "Positive cytomegalovirus urine nucleic acid test": "HP:0034890", + "Positive Neisseria gonorrhoeae urine nucleic acid test": "HP:0034891", + "Neisseria gonorrhoeae PCR positive in urine": "HP:0034891", + "Positive enterovirus urine nucleic acid test": "HP:0034892", + "Enterovirus RT-PCR in urine": "HP:0034892", + "Elevated brain glycine level by MRS": "HP:0034893", + "Elevated brain polyol compounds by MRS": "HP:0034894", + "Elevated brain gamma-aminobutyric acid by MRS": "HP:0034895", + "Elevated brain GABA by MRS": "HP:0034895", + "History of recent anticoagulant ingestion": "HP:0034896", + "Decreased circulating antidiuretic hormone concentration": "HP:0034897", + "Elevated circulating growth hormone-releasing hormone concentration": "HP:0034898", + "Abnormal amniotic fluid protein concentration": "HP:0034899", + "Decreased amniotic fluid alpha-fetoprotein concentration": "HP:0034900", + "Increased circulating vitamin E concentration": "HP:0034901", + "Abnormal circulating calcitonin concentration": "HP:0034902", + "Decreased circulating calcitonin concentration": "HP:0034903", + "Calcitonin low in blood": "HP:0034903", + "Decreased circulating thyrotropin releasing hormone concentration": "HP:0034904", + "Decreased circulating TRH concentration": "HP:0034904", + "Thyrotropin releasing hormone (TRH) low in blood": "HP:0034904", + "Elevated circulating uroporphyrin concentration": "HP:0034905", + "Increased urine pentacarboxylporphyrin level": "HP:0034906", + "Pentacarboxylporphyrin high in urine": "HP:0034906", + "Increased urine hexacarboxylporphyrin level": "HP:0034907", + "Hexacarboxylporphyrin high in urine": "HP:0034907", + "Increased circulating dehydroepiandrosterone concentration": "HP:0034908", + "Dehydroepiandrosterone high in blood": "HP:0034908", + "Increased erythrocyte coproporphyrin concentration": "HP:0034909", + "Increased erythrocyte uroproporphyrin concentration": "HP:0034910", + "Uroporphyrin high in erythrocytes": "HP:0034910", + "Decreased circulating apolipoprotein E concentration": "HP:0034911", + "Elevated circulating apolipoprotein E concentration": "HP:0034912", + "Acrosomal hypoplasia": "HP:0034913", + "Oocyte maturation arrest": "HP:0034914", + "Abnormal anus morphology": "HP:0034915", + "Abnormal anus physiology": "HP:0034916", + "Weak anal sphincter tone": "HP:0034917", + "Reduced muscle 2,4-dienoyl-CoA reductase activity": "HP:0034918", + "Muscle biopsy: 2,4-dienoyl-CoA reductase activity low": "HP:0034918", + "Reduced liver 2,4-dienoyl-CoA reductase activity": "HP:0034919", + "Nasal mucosa vasculitis": "HP:0034920", + "Pituitary blastoma": "HP:0034921", + "Peripheral axon spheroid formation": "HP:0034922", + "Reduced liver carboxylesterase 1 activity": "HP:0034923", + "Abnormal dermis morphology": "HP:0034924", + "Perivascular dermis hyaline deposition": "HP:0034925", + "Perivascular small intestinal hyaline deposition": "HP:0034926", + "Large keratohyaline granules": "HP:0034927", + "Decreased muscle lipoic acid content": "HP:0034928", + "Muscle biopsy: lipoic acid low": "HP:0034928", + "Reduced hepatic cystathionine gamma-lyase activity": "HP:0034929", + "Reduced hepatic cystathionase activity": "HP:0034929", + "Digestive system neoplasm": "HP:0034930", + "Lumbar spondylosis": "HP:0034931", + "Lumbar spine osteoarthritis": "HP:0034931", + "Decreased circulating acid maltase activity": "HP:0034932", + "Decreased alpha-1,4-glucosidase activity": "HP:0034932", + "obsolete Increased circulating ribitol concentration": "HP:0034933", + "Abnormal circulating 7-dehydrocholesterol concentration": "HP:0034934", + "Decreased circulating 7-dehydrocholesterol concentration": "HP:0034935", + "Elevated circulating lathosterol concentration": "HP:0034936", + "Elevated circulating desmosterol concentration": "HP:0034937", + "Decreased circulating sialic acid concentration": "HP:0034938", + "Purulent synovial fluid": "HP:0034939", + "Muscle fiber calsequestrin 1-containing inclusion bodies": "HP:0034940", + "Palatine myxoma": "HP:0034941", + "Vaginal myxoma": "HP:0034942", + "Decreased dermal collagen": "HP:0034943", + "Irregularly shaped keratohyaline granules": "HP:0034944", + "Tubular shadows": "HP:0034945", + "Multiple eyelid margin cysts": "HP:0034946", + "Multiple eyelid-margin apocrine hidrocystomas": "HP:0034946", + "Altered location of the longitudinal column in the fibrous sheath": "HP:0034947", + "Uterine myxoma": "HP:0034948", + "Uterine cervix myxoma": "HP:0034949", + "Typified by complete penetrance": "HP:0034950", + "Osteochondromyxoma": "HP:0034951", + "Gangliocytoma": "HP:0034952", + "Duodenal gastrinoma": "HP:0034953", + "Thymic carcinoid tumor": "HP:0034954", + "Bone marrow eosinophilia": "HP:0034955", + "Eosinophils increased in bone marrow": "HP:0034955", + "Exacerbated by lithium exposure": "HP:0034956", + "Reduced hepatic glycogen debrancher enzyme activity": "HP:0034957", + "Asymmetrical insertion of the midpiece into the head": "HP:0034958", + "Asymmetrical insertion of sperm neck": "HP:0034958", + "Bent sperm neck": "HP:0034959", + "Elevated urine 3,6-epoxydicarboxylic acid level": "HP:0034960", + "Gallbladder biliary sludging": "HP:0034961", + "Exacerbated by amiodarone exposure": "HP:0034962", + "Ureteral mass": "HP:0034963", + "Wide cavum septum pellucidum": "HP:0034964", + "Hypoplastic trochlear nerve": "HP:0034965", + "Hypoplasia of cranial nerve IV": "HP:0034965", + "Thymic cyst": "HP:0034966", + "Uterine cyst": "HP:0034967", + "Urinary bladder mass": "HP:0034968", + "Endosteal scalloping": "HP:0034969", + "Urinary bladder hamartoma": "HP:0034970", + "Peritoneal mass": "HP:0034971", + "Fallopian tube mass": "HP:0034972", + "Aplasia of the pyramids of the medulla oblongata": "HP:0034973", + "Bathrocephaly": "HP:0034974", + "Occipital horn": "HP:0034975", + "Absent pituitary stalk": "HP:0034976", + "Abnormal pituitary stalk morphology": "HP:0034977", + "Interrupted pituitary stalk": "HP:0034978", + "Facial synkinesis": "HP:0034979", + "Synkinesis": "HP:0034980", + "Exposure to birds": "HP:0034981", + "Perianal anethesia": "HP:0034982", + "Failure of phenylephrine to induce blanching of eye redness": "HP:0034983", + "Phenylephrine does not induce blanching of eye redness": "HP:0034983", + "Fetal alcohol exposure": "HP:0034984", + "Alcohol during pregnancy": "HP:0034984", + "Alcohol exposure before birth": "HP:0034984", + "Alcohol exposure during gestation": "HP:0034984", + "Alcohol exposure during pregnancy": "HP:0034984", + "Alcohol exposure in pregnancy": "HP:0034984", + "Alcohol use during pregnancy": "HP:0034984", + "Antenatal ETOH exposure": "HP:0034984", + "Antenatal alcohol exposure": "HP:0034984", + "Exposure to alcohol during gestation": "HP:0034984", + "Exposure to alcohol in the womb": "HP:0034984", + "Exposure to alcohol in utero": "HP:0034984", + "Prenatal ETOH exposure": "HP:0034984", + "Prenatal alcohol exposure": "HP:0034984", + "Prenatal exposure to ETOH": "HP:0034984", + "Prenatal exposure to alcohol": "HP:0034984", + "Reduced cellular cobalamin uptake": "HP:0034985", + "Focal necrotic brainstem lesion": "HP:0034986", + "Focal necrotic optic nerve lesion": "HP:0034987", + "Focal necrotic thalamus lesion": "HP:0034988", + "Interstitial dermal edema": "HP:0034989", + "Shoulder abduction contracture": "HP:0034990", + "Abduction contracture of the shoulder": "HP:0034990", + "Shoulder external rotation contracture": "HP:0034991", + "External rotation contracture of the shoulder joint": "HP:0034991", + "Thumb adduction contracture": "HP:0034992", + "Hip internal rotation contracture": "HP:0034993", + "obsolete Elevated circulating saccharopine concentration": "HP:0034994", + "Reduced tissue fructose-1,6-bisphosphatase activity": "HP:0034995", + "Reduced hepatic fructose-1,6-bisphosphatase activity": "HP:0034995", + "Reduced leukocyte fructose-1,6-bisphosphatase activity": "HP:0034995", + "Reduced hepatic carbamoylphosphate synthetase 1 activity": "HP:0034996", + "Reduced intraepidermal small nerve fiber density": "HP:0034997", + "Femoral artery duplication": "HP:0034998", + "Intracellular accumulation of collagen VII": "HP:0034999", + "Reduced reticular lamina anchoring fibril density": "HP:0035000", + "Reduced lamina lucida anchoring filament density": "HP:0035001", + "Reduced epidermal keratin 5 protein expression": "HP:0035002", + "Reduced epidermal keratin 14 protein expression": "HP:0035003", + "Reduced epidermal keratin protein expression": "HP:0035004", + "Reduced hepatic alanine-glyoxylate aminotransferase activity": "HP:0035005", + "Hepatic sinusoidal dilatation": "HP:0035006", + "Thin spermatozoon midpiece": "HP:0035007", + "Thin spermatozoon neck": "HP:0035007", + "Thick spermatozoon midpiece insertion": "HP:0035008", + "Shoulder adduction contracture": "HP:0035009", + "Adduction contracture of the shoulder": "HP:0035009", + "Occupational exposure history": "HP:0035010", + "Occupational silver exposure": "HP:0035011", + "Abnormal femoral artery morphology": "HP:0035012", + "Abnormal extrahepatic bile duct morphology": "HP:0035013", + "Extrahepatic bile duct fibrosis": "HP:0035014", + "Elevated circulating short-chain acylcarnitine concentration": "HP:0035015", + "Elevated circulating C4 acylcarnitine concentration": "HP:0035016", + "Elevated circulating medium-chain acylcarnitine concentration": "HP:0035017", + "Elevated circulating long-chain acylcarnitine concentration": "HP:0035018", + "Elevated circulating C5 acylcarnitine concentration": "HP:0035019", + "Elevated circulating C18 acylcarnitine concentration": "HP:0035020", + "Elevated circulating C16 acylcarnitine concentration": "HP:0035021", + "Elevated circulating very long-chain acylcarnitine concentration": "HP:0035022", + "Elevated circulating acetylcarnitine concentration": "HP:0035023", + "Elevated circulating C2 acylcarnitine concentration": "HP:0035023", + "Elevated circulating methylmalonylcarnitine concentration": "HP:0035024", + "Elevated circulating C4-DC acylcarnitine concentration": "HP:0035024", + "Methylmalonylcarnitine (C4-DC) high in blood": "HP:0035024", + "Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration": "HP:0035025", + "Elevated circulating C16-OH acylcarnitine concentration": "HP:0035025", + "Elevated circulating C6 acylcarnitine concentration": "HP:0035026", + "Elevated circulating methylglutarylcarnitine concentration": "HP:0035027", + "Elevated circulating C6-DC acylcarnitine concentration": "HP:0035027", + "Elevated circulating 3-hydroxyisovalerylcarnitine concentration": "HP:0035028", + "Elevated circulating C5-OH acylcarnitine concentration": "HP:0035028", + "Elevated circulating 3-hydroxyhexanoylcarnitine concentration": "HP:0035029", + "Elevating circulating C6-OH acylcarnitine concentration": "HP:0035029", + "Elevated circulating carnitine concentration": "HP:0035030", + "Elevated circulating tiglylcarnitine concentration": "HP:0035031", + "Elevated circulating C5:1 acylcarnitine concentration": "HP:0035031", + "Reduced circulating acetylcarnitine concentration": "HP:0035032", + "Reduced circulating C2 acylcarnitine concentration": "HP:0035032", + "Reduced circulating octadecenoylcarnitine concentration": "HP:0035033", + "Reduced circulating C18:1 acylcarnitine concentration": "HP:0035033", + "Abnormality of corneal shape": "HP:0040004", + "Mortality/Aging": "HP:0040006", + "Absent pigmentation of chest": "HP:0040007", + "Lack of skin coloring on chest": "HP:0040007", + "Lack of skin colouring on chest": "HP:0040007", + "Aplasia of facial bones": "HP:0040008", + "Failure of development of facial skeleton": "HP:0040008", + "Absence of facial bones": "HP:0040008", + "Agenesis of facial bones": "HP:0040008", + "Aplasia of facial skeleton": "HP:0040008", + "Failure of development of facial bones": "HP:0040008", + "Missing facial bones": "HP:0040008", + "Hyperparakeratosis": "HP:0040009", + "Small posterior fossa": "HP:0040010", + "Flat posterior fossa": "HP:0040011", + "Chromosome breakage": "HP:0040012", + "High frequency of chromosome breaks in lymphocytes": "HP:0040012", + "Increased chromosomal breakage": "HP:0040012", + "Increased chromosomal breakage rate": "HP:0040012", + "Multiple chromosomal breaks": "HP:0040012", + "Tendency to chromosomal breakage": "HP:0040012", + "Decreased mitochondrial number": "HP:0040013", + "Increased mitochondrial number": "HP:0040014", + "Increased activity of mitochondrial respiratory chain": "HP:0040015", + "Prominent coccyx": "HP:0040016", + "Prominent tailbone": "HP:0040016", + "Protruding coccyx": "HP:0040017", + "Protruding tailbone": "HP:0040017", + "Clinodactyly of hallux": "HP:0040018", + "Curvature of big toe": "HP:0040018", + "Finger clinodactyly": "HP:0040019", + "Curvature of finger": "HP:0040019", + "Radial deviation of the 5th finger": "HP:0040020", + "Clinodactyly of the 2nd finger": "HP:0040022", + "Curvature of index finger": "HP:0040022", + "Second finger clinodactyly": "HP:0040022", + "Clinodactyly of the thumb": "HP:0040023", + "Curvature of thumb": "HP:0040023", + "Clinodactyly of the 3rd finger": "HP:0040024", + "Curvature of middle finger": "HP:0040024", + "Clinodactyly of the 4th finger": "HP:0040025", + "Curvature of ring finger": "HP:0040025", + "Chorioretinal hypopigmentation": "HP:0040030", + "Chorioretinal hyperpigmentation": "HP:0040031", + "Hypoplasia of the upper eyelids": "HP:0040032", + "Small upper eyelid": "HP:0040032", + "Decreased size of upper eyelid": "HP:0040032", + "Underdevelopment of upper eyelid": "HP:0040032", + "Short upper eyelid": "HP:0040032", + "Hypotrophic upper eyelid": "HP:0040032", + "Aplasia/Hypoplasia of the fifth metatarsal bone": "HP:0040033", + "Absent/small 5th long bone of foot": "HP:0040033", + "Absent/underdeveloped 5th long bone of foot": "HP:0040033", + "Abnormality of the second metatarsal bone": "HP:0040034", + "Abnormality of the 2nd long bone of foot": "HP:0040034", + "Abnormality of the fourth metatarsal bone": "HP:0040035", + "Abnormality of the 4th long bone of foot": "HP:0040035", + "Onychogryphosis of fingernail": "HP:0040036", + "Overgrowth and curving of fingernail": "HP:0040036", + "obsolete Thin fingernail (obsolete)": "HP:0040037", + "obsolete Thin toenail": "HP:0040038", + "Onycholysis of fingernails": "HP:0040039", + "Detachment of fingernails": "HP:0040039", + "Onycholysis of fingernail": "HP:0040039", + "Toenail onycholysis": "HP:0040040", + "Detachment of toenails": "HP:0040040", + "Onycholysis of toenails": "HP:0040040", + "Aplasia of the eccrine sweat glands": "HP:0040042", + "Absent eccrine sweat glands": "HP:0040042", + "Hypoplasia of the eccrine sweat glands": "HP:0040043", + "Underdeveloped major sweat glands": "HP:0040043", + "Hypoplasia of the diaphragm": "HP:0040044", + "Underdeveloped diaphragm": "HP:0040044", + "Abnormal hemidiaphragm morphology": "HP:0040045", + "Abnormality of the hemidiaphragms": "HP:0040045", + "Abnormal left hemidiaphragm morphology": "HP:0040046", + "Abnormality of the left hemidiaphragm": "HP:0040046", + "Abnormal right hemidiaphragm morphology": "HP:0040047", + "Abnormality of the right hemidiaphragm": "HP:0040047", + "obsolete Aplasia of the left hemidiaphragm": "HP:0040048", + "Macular edema": "HP:0040049", + "Macular oedema": "HP:0040049", + "Sparse upper eyelashes": "HP:0040050", + "Hypotrichosis of upper eyelashes": "HP:0040050", + "Partial absence of upper eyelashes": "HP:0040050", + "Abnormality of upper eyelashes": "HP:0040051", + "Abnormality of lower eyelashes": "HP:0040052", + "Long lower eyelashes": "HP:0040053", + "Ciliary trichomegaly of lower eyelashes": "HP:0040053", + "Increased length of lower eyelashes": "HP:0040053", + "Short upper eyelashes": "HP:0040054", + "Decreased length of upper eyelashes": "HP:0040054", + "Short lower eyelashes": "HP:0040055", + "Decreased length of lower eyelashes": "HP:0040055", + "Absent upper eyelashes": "HP:0040056", + "Atrichia of upper eyelashes": "HP:0040056", + "Failure of development of upper eyelashes": "HP:0040056", + "Agenesis of upper eyelashes": "HP:0040056", + "Aplasia of upper eyelashes": "HP:0040056", + "Abnormal nasal hair morphology": "HP:0040057", + "Abnormality of nasal hair": "HP:0040057", + "Abnormality of nose hair": "HP:0040057", + "Calcification of ribs": "HP:0040059", + "Osteosclerosis of the radius": "HP:0040061", + "Slender radius": "HP:0040062", + "Decreased adipose tissue": "HP:0040063", + "Decreased fat tissue": "HP:0040063", + "Abnormality of limbs": "HP:0040064", + "Abnormal limbs": "HP:0040064", + "Limb anomaly": "HP:0040064", + "Dysmelia": "HP:0040064", + "obsolete Abnormal morphology of bones of the upper limbs": "HP:0040065", + "obsolete Abnormal morphology of bones of the lower limbs": "HP:0040066", + "Abnormality of limb bone": "HP:0040068", + "Abnormal lower limb bone morphology": "HP:0040069", + "Abnormal morphology of bones of the lower limbs": "HP:0040069", + "Abnormal shape of bones of the lower limbs": "HP:0040069", + "Abnormality of lower limb bone": "HP:0040069", + "Abnormal upper limb bone morphology": "HP:0040070", + "Abnormal morphology of bones of the upper limbs": "HP:0040070", + "Abnormal shape of bones of the upper limbs": "HP:0040070", + "Abnormality of upper limb bone": "HP:0040070", + "Abnormal morphology of ulna": "HP:0040071", + "Abnormal forearm bone morphology": "HP:0040072", + "Abnormality of forearm bone": "HP:0040072", + "obsolete Abnormal forearm bone morphology": "HP:0040073", + "Hypopituitarism": "HP:0040075", + "obsolete Abnormal concentration of calcium in blood": "HP:0040077", + "Axonal degeneration": "HP:0040078", + "Irregular dentition": "HP:0040079", + "Irregular teeth": "HP:0040079", + "Anteverted ears": "HP:0040080", + "Abnormal circulating creatine kinase concentration": "HP:0040081", + "Abnormal circulating CK concentration": "HP:0040081", + "Abnormal circulating CPK concentration": "HP:0040081", + "Abnormal circulation phospho-CK concentration": "HP:0040081", + "Abnormal levels of creatine kinase in blood": "HP:0040081", + "Happy demeanor": "HP:0040082", + "Happy demeanour": "HP:0040082", + "obsolete Toe walking": "HP:0040083", + "Abnormal circulating renin concentration": "HP:0040084", + "Abnormal circulating renin": "HP:0040084", + "Abnormal plasma renin": "HP:0040084", + "Abnormal circulating aldosterone concentration": "HP:0040085", + "Abnormal circulating aldosterone": "HP:0040085", + "Abnormal plasma aldosterone": "HP:0040085", + "Abnormal prolactin level": "HP:0040086", + "Abnormal blood folate concentration": "HP:0040087", + "Abnormal serum folate": "HP:0040087", + "Abnormality of folate in blood": "HP:0040087", + "Abnormal lymphocyte count": "HP:0040088", + "Abnormal lymphocyte counts": "HP:0040088", + "Abnormal number of lymphocytes": "HP:0040088", + "Abnormal numbers of lymphocytes": "HP:0040088", + "Abnormality of lymphocyte number": "HP:0040088", + "Abnormal natural killer cell count": "HP:0040089", + "Abnormal NK cell count": "HP:0040089", + "Abnormal number of natural killer cells": "HP:0040089", + "Abnormality of natural killer cell count": "HP:0040089", + "Abnormal tympanic membrane morphology": "HP:0040090", + "Abnormality of the eardrum": "HP:0040090", + "Abnormality of the tympanic membrane": "HP:0040090", + "Asymmetry of the size of ears": "HP:0040091", + "Asymmetry of the shape of the ears": "HP:0040092", + "Asymmetry of the position of the ears": "HP:0040093", + "Uneven ears": "HP:0040093", + "Neoplasm of the outer ear": "HP:0040095", + "Outer ear tumor": "HP:0040095", + "Outer ear tumour": "HP:0040095", + "Neoplasm of the inner ear": "HP:0040096", + "Inner ear tumor": "HP:0040096", + "Inner ear tumour": "HP:0040096", + "Neoplasm of the ceruminal gland": "HP:0040097", + "Adenoma of the ceruminous gland": "HP:0040097", + "Ceruminoma": "HP:0040097", + "Ceruminous adenoma": "HP:0040097", + "Basalioma of the outer ear": "HP:0040098", + "Abnormality of the round window": "HP:0040099", + "Abnormality of the vestibular window": "HP:0040100", + "Abnormality of the oval window": "HP:0040100", + "Cutaneous atresia of the external auditory canal": "HP:0040101", + "Osseous atresia of the external auditory canal": "HP:0040102", + "Cutaneous stenosis of the external auditory canal": "HP:0040103", + "Osseous stenosis of the external auditory canal": "HP:0040104", + "Abnormal lateral semicircular canal morphology": "HP:0040106", + "Morphological abnormality of the horizontal semicircular canal": "HP:0040106", + "Morphological abnormality of the lateral semicircular canal": "HP:0040106", + "Abnormal posterior semicircular canal morphology": "HP:0040107", + "Morphological abnormality of the posterior semicircular canal": "HP:0040107", + "Abnormal anterior semicircular canal morphology": "HP:0040108", + "Morphological abnormality of the anterior semicircular canal": "HP:0040108", + "Abnormal utricle morphology": "HP:0040109", + "Morphological abnormality of the utricle": "HP:0040109", + "obsolete Abnormal saccule morphology": "HP:0040110", + "obsolete Bilateral external ear deformity": "HP:0040111", + "Abnormal number of tubercles": "HP:0040112", + "Old-aged sensorineural hearing impairment": "HP:0040113", + "Presbycusis": "HP:0040113", + "Absence of the reflex of the tensor tympani muscle": "HP:0040114", + "Abnormal Eustachian tube morphology": "HP:0040115", + "Abnormality of the Eustachian tube": "HP:0040115", + "Aplasia of the Eustachian tube": "HP:0040116", + "Absent eustachian tube": "HP:0040116", + "Atresia of the Eustachian tube": "HP:0040117", + "Stenosis of the Eustachian tube": "HP:0040118", + "Unilateral conductive hearing impairment": "HP:0040119", + "Abnormality of the reflex of the tensor tympani muscle": "HP:0040120", + "Abnormality of the acoustic reflex": "HP:0040121", + "Abnormal auditory reflex": "HP:0040121", + "Abnormal middle-ear-muscles (MEM) reflex": "HP:0040121", + "Abnormality of stapedial reflex": "HP:0040121", + "Impairment of the the acoustic reflex": "HP:0040122", + "Impairment of the reflex of the tensor tympani muscle": "HP:0040123", + "obsolete Patent tuba eustachii": "HP:0040124", + "Abnormal circulating vitamin B12 concentration": "HP:0040126", + "Abnormal serum cobalamin level": "HP:0040126", + "Abnormal vitamin B12 level": "HP:0040126", + "Abnormal sweat homeostasis": "HP:0040127", + "Abnormal sweat electrolytes": "HP:0040128", + "Abnormal nerve conduction velocity": "HP:0040129", + "Abnormal nerve conduction": "HP:0040129", + "Abnormal nerve conduction velocities": "HP:0040129", + "Nerve conduction abnormalities": "HP:0040129", + "Abnormal circulating iron concentration": "HP:0040130", + "Abnormal serum iron concentration": "HP:0040130", + "Abnormal motor nerve conduction velocity": "HP:0040131", + "Abnormal sensory nerve conduction velocity": "HP:0040132", + "Abnormal circulating ferritin concentration": "HP:0040133", + "Abnormal plasma ferritin": "HP:0040133", + "Abnormal serum ferritin": "HP:0040133", + "Abnormal hepatic iron concentration": "HP:0040134", + "Abnormal liver iron concentration": "HP:0040134", + "Abnormal liver iron level": "HP:0040134", + "Abnormal transferrin saturation": "HP:0040135", + "Comedonal acne": "HP:0040137", + "Comedogenic acne": "HP:0040137", + "Mucinous histiocytosis": "HP:0040138", + "Histiocytosis, mucinous": "HP:0040138", + "Lipogranulomatosis": "HP:0040139", + "Degeneration of the striatum": "HP:0040140", + "Tardive dyskinesia": "HP:0040141", + "Reduced circulating 5-oxoprolinase activity": "HP:0040142", + "5-oxoprolinase deficiency": "HP:0040142", + "Reduced 5-oxoprolinase level": "HP:0040142", + "Dystopic os odontoideum": "HP:0040143", + "L-2-hydroxyglutaric aciduria": "HP:0040144", + "Dicarboxylic acidemia": "HP:0040145", + "D-2-hydroxyglutaric acidemia": "HP:0040146", + "L-2-hydroxyglutaric acidemia": "HP:0040147", + "Cortical myoclonus": "HP:0040148", + "Woolly scalp hair": "HP:0040149", + "Nappy scalp hair texture": "HP:0040149", + "Wooly scalp hair": "HP:0040149", + "Afro-textured scalp hair": "HP:0040149", + "Kinky scalp hair texture": "HP:0040149", + "Epiblepharon of upper lid": "HP:0040150", + "Epiblepharon of lower lid": "HP:0040151", + "Acne inversa": "HP:0040154", + "Hidradenitis suppurativa": "HP:0040154", + "Pyoderma fistulans significa": "HP:0040154", + "Smoker's boils": "HP:0040154", + "Verneuil's disease": "HP:0040154", + "Elevated urinary 3-hydroxybutyric acid": "HP:0040155", + "Elevated urinary carboxylic acid": "HP:0040156", + "Abnormal intermamillary distance": "HP:0040157", + "Short intermamillary distance": "HP:0040158", + "Abnormal spaced incisors": "HP:0040159", + "Abnormality of spacing of front teeth": "HP:0040159", + "Abnormality of spacing of incisors": "HP:0040159", + "Generalized osteoporosis": "HP:0040160", + "Generalised osteoporosis": "HP:0040160", + "Generalised osteoporosis with pathologic fractures": "HP:0040160", + "Generalized osteoporosis with pathologic fractures": "HP:0040160", + "Localized osteoporosis": "HP:0040161", + "Localised osteoporosis": "HP:0040161", + "Orthokeratosis": "HP:0040162", + "Abnormal pelvis bone morphology": "HP:0040163", + "Abnormal shape of pelvis bone": "HP:0040163", + "Lipomas of eyelids": "HP:0040164", + "Fatty tumors on the eyelids": "HP:0040164", + "Fatty tumours on the eyelids": "HP:0040164", + "Periostitis": "HP:0040165", + "Periostalgia": "HP:0040165", + "obsolete Abnormality of the periosteum": "HP:0040166", + "Facial papilloma": "HP:0040167", + "Facial verruca": "HP:0040167", + "Facial wart": "HP:0040167", + "obsolete Focal seizures, afebril": "HP:0040168", + "Loose anagen hair": "HP:0040169", + "Abnormality of hair growth": "HP:0040170", + "Decreased serum testosterone concentration": "HP:0040171", + "Decreased testosterone": "HP:0040171", + "Decreased serum testosterone level": "HP:0040171", + "Decreased serum testosterone levels": "HP:0040171", + "Low serum testosterone level": "HP:0040171", + "Low serum testosterone levels": "HP:0040171", + "Abnormality of occipitofrontalis muscle": "HP:0040172", + "Abnormality of the tongue muscle": "HP:0040173", + "Abnormality of lingual muscle": "HP:0040173", + "Abnormality of extrinsic muscle of tongue": "HP:0040174", + "Abnormality of extrinsic lingual muscle": "HP:0040174", + "Platelet-activating factor acetylhydrolase deficiency": "HP:0040175", + "Abnormal circulating phospholipid concentration": "HP:0040176", + "Abnormal level of phospholipids": "HP:0040176", + "Abnormal level of platelet-activating factor": "HP:0040177", + "Abnormal level of PAF": "HP:0040177", + "Increased level of platelet-activating factor": "HP:0040178", + "Increased level of PAF": "HP:0040178", + "Decreased level of platelet-activating factor": "HP:0040179", + "Decreased level of PAF": "HP:0040179", + "obsolete Hyperkeratosis pilaris": "HP:0040180", + "Chapped lip": "HP:0040181", + "Chapped lips": "HP:0040181", + "Cheilitis simplex": "HP:0040181", + "Common cheilitis": "HP:0040181", + "Dry lips": "HP:0040181", + "Perioral dermatitis": "HP:0040181", + "Inappropriate sinus tachycardia": "HP:0040182", + "Encopresis": "HP:0040183", + "Stool holding": "HP:0040183", + "Stool soiling": "HP:0040183", + "Oral bleeding": "HP:0040184", + "Oral haemorrhage": "HP:0040184", + "Oral hemorrhage": "HP:0040184", + "Macrothrombocytopenia": "HP:0040185", + "Macrothrombozytopenia": "HP:0040185", + "Maculopapular exanthema": "HP:0040186", + "Neonatal sepsis": "HP:0040187", + "Osteochondrosis": "HP:0040188", + "Scaling skin": "HP:0040189", + "Desquamation": "HP:0040189", + "Scaly skin": "HP:0040189", + "flaking skin": "HP:0040189", + "peeling skin": "HP:0040189", + "White scaling skin": "HP:0040190", + "White scaly skin": "HP:0040190", + "Rectus femoris muscle atrophy": "HP:0040191", + "Atrophy of the rectus femoris muscles": "HP:0040191", + "APUdoma": "HP:0040192", + "amine precursor uptake and decarboxylation tumors": "HP:0040192", + "amine precursor uptake and decarboxylation tumours": "HP:0040192", + "obsolete Pinealoblastoma": "HP:0040193", + "Increased head circumference": "HP:0040194", + "Decreased head circumference": "HP:0040195", + "Mild microcephaly": "HP:0040196", + "Encephalomalacia": "HP:0040197", + "Cerebral softening": "HP:0040197", + "Non-medullary thyroid carcinoma": "HP:0040198", + "Nonmedullary thyroid carcinoma": "HP:0040198", + "Thyroid cancer, nonmedullary": "HP:0040198", + "obsolete Flat midface": "HP:0040199", + "Motor impersistence": "HP:0040200", + "Negative chorea": "HP:0040200", + "Simultanapraxia": "HP:0040201", + "Abnormal consumption behavior": "HP:0040202", + "Abnormal consumption behaviour": "HP:0040202", + "Abnormal CSF neopterin concentration": "HP:0040203", + "Abnormal CSF neopterin level": "HP:0040203", + "Elevated CSF neopterin level": "HP:0040204", + "Decreased CSF neopterin level": "HP:0040205", + "Abnormal circulating neopterin concentration": "HP:0040206", + "Abnormal CSF pterin concentration": "HP:0040207", + "Abnormal CSF biopterin level": "HP:0040207", + "Abnormal cerebrospinal fluid biopterin level": "HP:0040207", + "Elevated CSF biopterin level": "HP:0040208", + "Decreased CSF biopterin level": "HP:0040209", + "Decreased cerebrospinal fluid biopterin level": "HP:0040209", + "Abnormal circulating biopterin concentration": "HP:0040210", + "Abnormal skin morphology of the palm": "HP:0040211", + "Risus sardonicus": "HP:0040212", + "Rictus grin": "HP:0040212", + "Hypopnea": "HP:0040213", + "Shallow breathing": "HP:0040213", + "Abnormal circulating insulin concentration": "HP:0040214", + "Abnormal insulin level": "HP:0040214", + "obsolete Abnormal circulating insulin level": "HP:0040215", + "Hypoinsulinemia": "HP:0040216", + "Elevated hemoglobin A1c": "HP:0040217", + "Elevated HbA1c": "HP:0040217", + "Elevated glycated haemoglobin": "HP:0040217", + "Elevated glycated hemoglobin": "HP:0040217", + "Elevated glycosylated haemoglobin": "HP:0040217", + "Elevated glycosylated hemoglobin": "HP:0040217", + "Elevated haemoglobin A1c": "HP:0040217", + "Increased HbA1c levels": "HP:0040217", + "Reduced natural killer cell count": "HP:0040218", + "Reduced NK cell number": "HP:0040218", + "Reduced natural killer cell number": "HP:0040218", + "Absent natural killer cells": "HP:0040219", + "Absent NK cells": "HP:0040219", + "Abnormal size of the dental root": "HP:0040220", + "Hypoplasia of the dental root": "HP:0040221", + "Maternal thrombophilia": "HP:0040222", + "Pulmonary hemorrhage": "HP:0040223", + "Intrapulmonary haemorrhage": "HP:0040223", + "Intrapulmonary hemorrhage": "HP:0040223", + "Pulmonary haemorrhage": "HP:0040223", + "Abnormality of fibrinolysis": "HP:0040224", + "Abnormality of the fibrinolytic system": "HP:0040224", + "Decrease in high molecular weight von Willebrand factor Multimers": "HP:0040225", + "Decrease in HMW VWF multimers": "HP:0040225", + "Decreased level of heparin co-factor II": "HP:0040226", + "Heparin co-factor II deficiency": "HP:0040226", + "Decreased level of histidine-rich glycoprotein": "HP:0040227", + "Decreased level of plasminogen": "HP:0040228", + "Hypoplasminogenemia": "HP:0040228", + "Decreased level of thrombomodulin": "HP:0040229", + "BDCA-3": "HP:0040229", + "Decreased level of tissue plasminogen activator": "HP:0040230", + "Decreased level of tPA": "HP:0040230", + "Abnormal onset of bleeding": "HP:0040231", + "Delayed onset bleeding": "HP:0040232", + "Factor XIII subunit A deficiency": "HP:0040233", + "Reduced factor XIII, subunit A": "HP:0040233", + "Factor XIII subunit B deficiency": "HP:0040234", + "Reduced factor XIII, subunit B": "HP:0040234", + "Leukocyte inclusion bodies": "HP:0040235", + "Dohle-like leukocyte inclusion bodies": "HP:0040235", + "Inclusion bodies in leukocytes": "HP:0040235", + "Hyperfibrinolysis": "HP:0040236", + "Impaired binding of factor VIII to VWF": "HP:0040237", + "von Willebrand Disease Type II Normandy": "HP:0040237", + "Impaired neutrophil chemotaxis": "HP:0040238", + "Neutrophil migratory defect": "HP:0040238", + "Increased plasma vitamin K epoxide after vitamin K supplementation": "HP:0040239", + "Increased ratio of VWF propeptide to VWF antigen": "HP:0040240", + "Increased RIPA": "HP:0040241", + "Muscle hemorrhage": "HP:0040242", + "Intramuscular haemorrhage": "HP:0040242", + "Intramuscular hemorrhage": "HP:0040242", + "Muscle haemorrhage": "HP:0040242", + "Prolonged euglobulin clot lysis time": "HP:0040243", + "Prolonged Russell's viper venom time": "HP:0040244", + "Reduced alpha-2-antiplasmin activity": "HP:0040245", + "Reduced antithrombin antigen": "HP:0040246", + "Reduced euglobulin clot lysis time": "HP:0040247", + "Reduced plasminogen activator inhibitor 1 activity": "HP:0040248", + "Reduced plasminogen activator inhibitor 1 antigen": "HP:0040249", + "Reduced prothrombin antigen": "HP:0040250", + "Hand dimple": "HP:0040251", + "Hand dimples": "HP:0040251", + "Abnormal size of the clitoris": "HP:0040252", + "Increased size of the clitoris": "HP:0040253", + "Decreased size of the clitoris": "HP:0040254", + "Aplasia/Hypoplasia of the clitoris": "HP:0040255", + "Aplastic/Hypoplastic nasopharyngeal adenoids": "HP:0040256", + "Adenoids small or absent": "HP:0040256", + "Abnormal size of nasopharyngeal adenoids": "HP:0040257", + "Hypoplastic nasopharyngeal adenoids": "HP:0040258", + "Underdeveloped nasopharyngeal adenoids": "HP:0040258", + "Aplastic nasopharyngeal adenoids": "HP:0040259", + "Decreased size of nasopharyngeal adenoids": "HP:0040260", + "Increased size of nasopharyngeal adenoids": "HP:0040261", + "Adenoid hypertrophy": "HP:0040261", + "Adenoids large": "HP:0040261", + "Glue ear": "HP:0040262", + "obsolete Jaw ankylosis": "HP:0040263", + "Jaw pain": "HP:0040264", + "Upper limb muscle hypertrophy": "HP:0040265", + "Proximal upper limb muscle hypertrophy": "HP:0040266", + "Distal upper limb muscle hypertrophy": "HP:0040267", + "obsolete Recurrent infections of the middle ear": "HP:0040268", + "Blocked Eustachian tube": "HP:0040269", + "Obstruction of Eustachian tube": "HP:0040269", + "Impaired glucose tolerance": "HP:0040270", + "Decreased glucose tolerance": "HP:0040270", + "Glucose tolerance decreased": "HP:0040270", + "Hyperintensity of MRI T2 signal of the spinal cord": "HP:0040272", + "Adenocarcinoma of the intestines": "HP:0040273", + "Adenocarcinoma of the small intestine": "HP:0040274", + "Adenocarcinoma of the large intestine": "HP:0040275", + "Adenocarcinoma of the colon": "HP:0040276", + "Neoplasm of the pituitary gland": "HP:0040277", + "obsolete Prolactinoma": "HP:0040278", + "Frequency": "HP:0040279", + "Obligate": "HP:0040280", + "Obligate (100%)": "HP:0040280", + "Very frequent": "HP:0040281", + "Very frequent (99-80%)": "HP:0040281", + "Frequent": "HP:0040282", + "Frequent (79-30%)": "HP:0040282", + "Occasional": "HP:0040283", + "Occasional (29-5%)": "HP:0040283", + "Very rare": "HP:0040284", + "Very rare (<4-1%)": "HP:0040284", + "Very rare (<4-1%)": "HP:0040284", + "Excluded": "HP:0040285", + "Excluded (0%)": "HP:0040285", + "Abnormal axial muscle morphology": "HP:0040286", + "Abnormality of axial muscles": "HP:0040286", + "Axial muscle atrophy": "HP:0040287", + "Nasogastric tube feeding": "HP:0040288", + "Cyclic neutropenia": "HP:0040289", + "CyN": "HP:0040289", + "obsolete Abnormality of skeletal muscles": "HP:0040290", + "Skeletal muscle steatosis": "HP:0040291", + "Steatosis of skeletal muscle": "HP:0040291", + "Steatosis of skeletal muscles": "HP:0040291", + "Left hemiplegia": "HP:0040292", + "Hemiplegia (left)": "HP:0040292", + "Right hemiplegia": "HP:0040293", + "Hemiplegia (right)": "HP:0040293", + "Duplicated tongue": "HP:0040294", + "Duplication of tongue": "HP:0040294", + "Tongue duplicated": "HP:0040294", + "Tongue duplication": "HP:0040294", + "Duplication of the upper lip": "HP:0040295", + "Double upper lip": "HP:0040295", + "Abnormal location of the eyebrow": "HP:0040296", + "Abnormal location of eyebrows": "HP:0040296", + "Abnormally placed eyebrows": "HP:0040296", + "Preauricular cyst": "HP:0040297", + "Hyperplasia of the endometrium": "HP:0040298", + "Hyperplastic endometrium": "HP:0040298", + "Decreased circulating free fatty acid level": "HP:0040299", + "Low fatty acids level": "HP:0040299", + "Abnormal circulating free fatty acid concentration": "HP:0040300", + "Abnormal circulating free fatty acid level": "HP:0040300", + "Increased urinary glycerol": "HP:0040301", + "Hyperglycerolemia": "HP:0040302", + "Pseudohypertriglyceridemia": "HP:0040302", + "Decreased circulating iron concentration": "HP:0040303", + "Decreased serum iron": "HP:0040303", + "Hypoferremia": "HP:0040303", + "Low serum iron": "HP:0040303", + "Duplication of the sella turcica": "HP:0040304", + "Duplicate sella turcica": "HP:0040304", + "Duplicated sella turcica": "HP:0040304", + "Increased male libido": "HP:0040305", + "Decreased male libido": "HP:0040306", + "Male sexual dysfunction": "HP:0040307", + "Male anorgasmia": "HP:0040308", + "Increased size of the mandible": "HP:0040309", + "Large jaw": "HP:0040309", + "Sterile arthritis": "HP:0040310", + "Symmetric polyarthritis": "HP:0040311", + "Temporomandibular arthritis": "HP:0040312", + "Arthritis of temporomandibular joint": "HP:0040312", + "Oligoarthritis": "HP:0040313", + "Blind vagina": "HP:0040314", + "Blind-ended vagina": "HP:0040314", + "Tongue edema": "HP:0040315", + "Tongue oedema": "HP:0040315", + "obsolete Aplasia of the penis": "HP:0040316", + "Blue urine": "HP:0040317", + "Red urine": "HP:0040318", + "Dark urine": "HP:0040319", + "Red-brown urine": "HP:0040320", + "red brown urine": "HP:0040320", + "Dark yellow urine": "HP:0040321", + "Purple urine": "HP:0040322", + "Eyelid erythema": "HP:0040323", + "Erythema of eyelid": "HP:0040323", + "Erythema of the eyelids": "HP:0040323", + "Red eyelid": "HP:0040323", + "Heliotrope rash": "HP:0040324", + "Heliotrope erythema": "HP:0040324", + "Bull's eye rash": "HP:0040325", + "Hypoplasia of the olfactory bulb": "HP:0040326", + "Hypoplasia of olfactory bulb": "HP:0040326", + "Hypoplastic olfactory bulb": "HP:0040326", + "Abnormal morphology of the olfactory bulb": "HP:0040327", + "Focal hyperintensity of cerebral white matter on MRI": "HP:0040328", + "Multifocal hyperintensity of cerebral white matter on MRI": "HP:0040329", + "Confluent hyperintensity of cerebral white matter on MRI": "HP:0040330", + "Focal hypointensity of cerebral white matter on MRI": "HP:0040331", + "Multifocal hypointensity of cerebral white matter on MRI": "HP:0040332", + "Confluent hypointensity of cerebral white matter on MRI": "HP:0040333", + "Purulent rhinitis": "HP:0040334", + "Nipple localization": "HP:0040402", + "Breast microcalcification": "HP:0040403", + "Microcalcifications of the breast": "HP:0040403", + "Architectural distortion of breast": "HP:0040404", + "Asymmetric thickening of the nipple-areolar complex": "HP:0040405", + "Perimenopausal": "HP:0040406", + "Mastitis": "HP:0040407", + "Ameliorated by menopause": "HP:0040408", + "Fluctuance on palpation": "HP:0040409", + "History of vasectomy": "HP:0040410", + "Pain in penis": "HP:0040411", + "Penile pain": "HP:0040411", + "Left ventricular thrombus": "HP:0040412", + "Atrophic vaginal mucosa": "HP:0040413", + "Gelatinous ascites": "HP:0040414", + "Diffuse breast nodularity": "HP:0040415", + "Abnormal urinary nitrogen compound level": "HP:0040416", + "Decreased urinary biopterin level": "HP:0040417", + "Abnormal urine guanidinoacetic acid level": "HP:0040418", + "Elevated urine guanidinoacetic acid level": "HP:0040419", + "Decreased urinary neopterin level": "HP:0040420", + "Abnormal urinary inosine level": "HP:0040421", + "Elevated urinary inosine level": "HP:0040422", + "Abnormal urinary guanosine level": "HP:0040423", + "Elevated urinary guanosine level": "HP:0040424", + "Abnormal urinary hypoxanthine level": "HP:0040425", + "Decreased urinary hypoxanthine level": "HP:0040426", + "Absent neutrophil lactoferrin": "HP:0041042", + "Neutrophil nuclear clefts": "HP:0041043", + "Low neutrophil alkaline phosphatase": "HP:0041044", + "Increased neutrophil mitochondria": "HP:0041045", + "Increased neutrophil ribosomes": "HP:0041046", + "Bladder outlet obstruction": "HP:0041047", + "Obstruction of bladder outlet": "HP:0041047", + "Decreased expression of GPI-anchored proteins on the cell surface": "HP:0041048", + "Starch intolerance": "HP:0041049", + "Amylose-amylopectin intolerance": "HP:0041049", + "Renal tubular cyst": "HP:0041050", + "Renal tubule cyst": "HP:0041050", + "Ageusia": "HP:0041051", + "Absent sense of taste": "HP:0041051", + "Impaired taste sensation": "HP:0041051", + "Lost taste": "HP:0041051", + "Agenesis of putamen": "HP:0041052", + "obsolete Fractured head": "HP:0041053", + "obsolete Fractured thoracic segment of trunk": "HP:0041054", + "Fractured humerus": "HP:0041055", + "Broken humerus": "HP:0041055", + "Fracture of the humerus": "HP:0041055", + "Humeral fracture": "HP:0041055", + "Humerus fracture": "HP:0041055", + "bone humerus": "HP:0041055", + "Hot cross bun sign": "HP:0041056", + "Transient decreased circulating IgG4": "HP:0041057", + "Transient decreased IgG4 in blood": "HP:0041057", + "Chronic decreased circulating IgG4": "HP:0041058", + "Chronic decreased IgG4 in blood": "HP:0041058", + "Chronic (near) absent circulating IgG4": "HP:0041059", + "Chronic (near) absent IgG4 in blood": "HP:0041059", + "Chronic partially decreased circulating IgG4": "HP:0041060", + "Chronic partially decreased IgG4 in blood": "HP:0041060", + "Fractured calcaneus": "HP:0041061", + "bone calcaneus": "HP:0041061", + "Transient decreased circulating IgG2": "HP:0041062", + "Transient decreased IgG2 in blood": "HP:0041062", + "Chronic decreased circulating IgG2": "HP:0041063", + "Chronic decreased IgG2 in blood": "HP:0041063", + "obsolete Fractured knee": "HP:0041064", + "Chronic (near) absent circulating IgG2": "HP:0041065", + "Chronic (near) absent IgG2 in blood": "HP:0041065", + "Chronic partially decreased circulating IgG2": "HP:0041066", + "Chronic partially decreased IgG2 in blood": "HP:0041066", + "Transient decreased circulating IgG1": "HP:0041067", + "Transient decreased IgG1 in blood": "HP:0041067", + "Chronic decreased circulating IgG1": "HP:0041068", + "Chronic decreased IgG1 in blood": "HP:0041068", + "Chronic (near) absent circulating IgG1": "HP:0041069", + "Chronic (near) absent IgG1 in blood": "HP:0041069", + "Chronic partially decreased circulating IgG1": "HP:0041070", + "Chronic partially decreased IgG1 in blood": "HP:0041070", + "Transient decreased circulating IgG3": "HP:0041071", + "Transient decreased IgG3 in blood": "HP:0041071", + "Chronic decreased circulating IgG3": "HP:0041072", + "Chronic decreased IgG3 in blood": "HP:0041072", + "Fractured thoracic vertebra": "HP:0041073", + "bone thoracic vertebra": "HP:0041073", + "Chronic (near) absent circulating IgG3": "HP:0041074", + "Chronic (near) absent IgG3 in blood": "HP:0041074", + "Chronic partially decreased circulating IgG3": "HP:0041075", + "Chronic partially decreased IgG3 in blood": "HP:0041075", + "Abnormal immunoglobulin level in body fluid": "HP:0041076", + "Increased immunoglobulin level in body fluid": "HP:0041077", + "Decreased immunoglobulin level in body fluid": "HP:0041078", + "Decreased body fat percentage": "HP:0041079", + "Decreased adipose tissue percentage": "HP:0041079", + "Abnormal proportion of exhausted T cells": "HP:0041080", + "Fractured lower leg": "HP:0041081", + "Fracture of the lower leg": "HP:0041081", + "Lower extremity fracture": "HP:0041081", + "Lower limb fracture": "HP:0041081", + "Fractured skull": "HP:0041082", + "Fractured phalanx": "HP:0041083", + "bone phalanx": "HP:0041083", + "Compression-fractured thoracic vertebra": "HP:0041084", + "Compression fractured thoracic vertebra": "HP:0041084", + "Wedge fractured thoracic vertebra": "HP:0041084", + "Compression-fractured vertebra": "HP:0041085", + "Compression fractured vertebra": "HP:0041085", + "Wedge fractured vertebra": "HP:0041085", + "Compression-fractured cervical vertebra": "HP:0041086", + "Compression fractured cervical vertebra": "HP:0041086", + "Wedge fractured cervical vertebra": "HP:0041086", + "Compression-fractured lumbar vertebra": "HP:0041087", + "Compression fractured lumbar vertebra": "HP:0041087", + "Wedge fractured lumbar vertebra": "HP:0041087", + "Avulsion fractured humerus": "HP:0041088", + "Avulsion fractured tibia": "HP:0041089", + "Pelvic avulsion fracture": "HP:0041090", + "Avulsion fractured pelvic region of trunk": "HP:0041090", + "Avulsion fractured epiphysis of femur": "HP:0041091", + "Emotional hypersensitivity": "HP:0041092", + "Emotional reactivity": "HP:0041092", + "Highly sensitive": "HP:0041092", + "Hypersensitivity": "HP:0041092", + "Overly sensitive": "HP:0041092", + "Beau's lines": "HP:0041093", + "Beau lines": "HP:0041093", + "Ladder nail": "HP:0041093", + "Ladder nail sign": "HP:0041093", + "Complete tracheal ring": "HP:0041094", + "CTRD": "HP:0041094", + "Complete tracheal ring deformity": "HP:0041094", + "Complete tracheal rings": "HP:0041094", + "Decreased middle cerebral artery pulsatility index": "HP:0041095", + "Fractured metaphysis of femur": "HP:0041114", + "bone metaphysis of femur": "HP:0041114", + "Fractured right clavicle": "HP:0041115", + "bone right clavicle": "HP:0041115", + "Fractured left clavicle": "HP:0041116", + "bone left clavicle": "HP:0041116", + "Fractured lower limb segment": "HP:0041117", + "bone lower limb segment": "HP:0041117", + "Fractured upper limb segment": "HP:0041118", + "bone upper limb segment": "HP:0041118", + "Fractured metacarpus skeleton": "HP:0041119", + "bone metacarpus skeleton": "HP:0041119", + "Fractured epiphysis of fifth metacarpal bone": "HP:0041121", + "bone epiphysis of fifth metacarpal bone": "HP:0041121", + "Fractured tibia": "HP:0041143", + "Broken tibia": "HP:0041143", + "Fracture of the tibia": "HP:0041143", + "Tibial fracture": "HP:0041143", + "bone tibia": "HP:0041143", + "Fractured clavicle bone": "HP:0041144", + "bone clavicle bone": "HP:0041144", + "Fractured acetabular part of hip bone": "HP:0041145", + "bone acetabular part of hip bone": "HP:0041145", + "Fractured coccyx": "HP:0041146", + "bone coccyx": "HP:0041146", + "Fractured epiphysis": "HP:0041147", + "bone epiphysis": "HP:0041147", + "Fractured navicular bone of pes": "HP:0041149", + "bone navicular bone of pes": "HP:0041149", + "Fractured cuboid bone": "HP:0041150", + "bone cuboid bone": "HP:0041150", + "Fractured sternoclavicular joint": "HP:0041152", + "bone sternoclavicular joint": "HP:0041152", + "Fractured ankle": "HP:0041153", + "Ankle fracture": "HP:0041153", + "obsolete Fractured elbow joint": "HP:0041154", + "Fractured mandible": "HP:0041155", + "bone mandible": "HP:0041155", + "Fractured orbit of skull": "HP:0041156", + "bone orbit of skull": "HP:0041156", + "Fractured larynx": "HP:0041157", + "bone larynx": "HP:0041157", + "obsolete Fractured trunk": "HP:0041158", + "Fractured rib": "HP:0041159", + "bone rib": "HP:0041159", + "Pelvis fracture": "HP:0041161", + "Fractured pelvic region of trunk": "HP:0041161", + "Pelvic fracture": "HP:0041161", + "Metatarsal fracture": "HP:0041162", + "Broken metatarsal": "HP:0041162", + "Broken metatarsal bone": "HP:0041162", + "Fractured manual digit": "HP:0041163", + "bone manual digit": "HP:0041163", + "Fractured talus": "HP:0041164", + "bone talus": "HP:0041164", + "Fractured maxilla": "HP:0041165", + "bone maxilla": "HP:0041165", + "Fractured vertebra": "HP:0041166", + "bone vertebra": "HP:0041166", + "Fractured cervical vertebra": "HP:0041167", + "bone cervical vertebra": "HP:0041167", + "Fractured lumbar vertebra": "HP:0041168", + "bone lumbar vertebra": "HP:0041168", + "Fractured fused sacrum": "HP:0041172", + "bone fused sacrum": "HP:0041172", + "Fractured metacarpophalangeal joint": "HP:0041173", + "bone metacarpophalangeal joint": "HP:0041173", + "Fractured distal finger phalanx": "HP:0041174", + "Fractured distal phalanx of manus": "HP:0041174", + "bone distal phalanx of manus": "HP:0041174", + "Fractured middle phalanx of pes": "HP:0041175", + "bone middle phalanx of pes": "HP:0041175", + "Fractured distal phalanx of manual digit 2": "HP:0041176", + "bone distal phalanx of manual digit 2": "HP:0041176", + "Fractured distal phalanx of manual digit 3": "HP:0041177", + "bone distal phalanx of manual digit 3": "HP:0041177", + "Fractured distal phalanx of manual digit 4": "HP:0041178", + "bone distal phalanx of manual digit 4": "HP:0041178", + "Fractured distal phalanx of manual digit 5": "HP:0041179", + "bone distal phalanx of manual digit 5": "HP:0041179", + "Fractured distal phalanx of pedal digit 1": "HP:0041180", + "bone distal phalanx of pedal digit 1": "HP:0041180", + "Fractured distal phalanx of pedal digit 3": "HP:0041181", + "bone distal phalanx of pedal digit 3": "HP:0041181", + "Fractured middle phalanx of manual digit 2": "HP:0041182", + "bone middle phalanx of manual digit 2": "HP:0041182", + "Fractured middle phalanx of manual digit 3": "HP:0041183", + "bone middle phalanx of manual digit 3": "HP:0041183", + "Fractured middle phalanx of manual digit 4": "HP:0041184", + "bone middle phalanx of manual digit 4": "HP:0041184", + "Fractured middle phalanx of manual digit 5": "HP:0041185", + "bone middle phalanx of manual digit 5": "HP:0041185", + "Fractured middle phalanx of pedal digit 3": "HP:0041186", + "bone middle phalanx of pedal digit 3": "HP:0041186", + "Fractured proximal phalanx of pedal digit 1": "HP:0041187", + "bone proximal phalanx of pedal digit 1": "HP:0041187", + "Fractured proximal phalanx of manual digit 1": "HP:0041188", + "bone proximal phalanx of manual digit 1": "HP:0041188", + "Fractured epiphysis of femur": "HP:0041189", + "bone epiphysis of femur": "HP:0041189", + "Fractured epiphysis of second metacarpal bone": "HP:0041190", + "bone epiphysis of second metacarpal bone": "HP:0041190", + "Fractured epiphysis of third metacarpal bone": "HP:0041191", + "bone epiphysis of third metacarpal bone": "HP:0041191", + "Fractured epiphysis of fourth metacarpal bone": "HP:0041192", + "bone epiphysis of fourth metacarpal bone": "HP:0041192", + "Fractured epiphysis of first metatarsal bone": "HP:0041193", + "bone epiphysis of first metatarsal bone": "HP:0041193", + "Fractured epiphysis of second metatarsal bone": "HP:0041194", + "bone epiphysis of second metatarsal bone": "HP:0041194", + "Fractured epiphysis of third metatarsal bone": "HP:0041195", + "bone epiphysis of third metatarsal bone": "HP:0041195", + "Fractured distal epiphysis of radius": "HP:0041196", + "bone distal epiphysis of radius": "HP:0041196", + "Fractured proximal epiphysis of first metacarpal bone": "HP:0041197", + "bone proximal epiphysis of first metacarpal bone": "HP:0041197", + "Fractured proximal epiphysis of middle phalanx of manual digit 3": "HP:0041198", + "bone proximal epiphysis of middle phalanx of manual digit 3": "HP:0041198", + "Fractured interphalangeal joint": "HP:0041199", + "bone interphalangeal joint": "HP:0041199", + "Fractured sternal end of clavicle": "HP:0041200", + "bone sternal end of clavicle": "HP:0041200", + "Fractured epiphysis of middle phalanx of manus": "HP:0041209", + "bone epiphysis of middle phalanx of manus": "HP:0041209", + "Fractured lateral malleolus of fibula": "HP:0041210", + "bone lateral malleolus of fibula": "HP:0041210", + "Fractured proximal phalanx of digit 2": "HP:0041211", + "bone proximal phalanx of digit 2": "HP:0041211", + "Fractured proximal phalanx of digit 3": "HP:0041212", + "bone proximal phalanx of digit 3": "HP:0041212", + "Fractured proximal phalanx of digit 4": "HP:0041213", + "bone proximal phalanx of digit 4": "HP:0041213", + "Fractured proximal phalanx of digit 5": "HP:0041214", + "bone proximal phalanx of digit 5": "HP:0041214", + "Fractured fused metatarsal bones 2-4": "HP:0041215", + "bone fused metatarsal bones 2-4": "HP:0041215", + "Fractured distal epiphysis of distal phalanx of manual digit 1": "HP:0041216", + "bone distal epiphysis of distal phalanx of manual digit 1": "HP:0041216", + "Fractured shoulder": "HP:0041217", + "bone shoulder joint": "HP:0041217", + "Fractured distal phalanx": "HP:0041218", + "bone distal phalanx": "HP:0041218", + "Fractured elbow": "HP:0041219", + "bone elbow": "HP:0041219", + "Fractured facial bone": "HP:0041220", + "bone facial bone": "HP:0041220", + "Fractured head of femur": "HP:0041221", + "bone head of femur": "HP:0041221", + "Fractured fibula": "HP:0041222", + "Broken fibula": "HP:0041222", + "Fibula fracture": "HP:0041222", + "Fracture of the fibula": "HP:0041222", + "bone fibula": "HP:0041222", + "Fractured metatarsal bone of digit 5": "HP:0041223", + "bone metatarsal bone of digit 5": "HP:0041223", + "Fractured manual digit bone": "HP:0041224", + "bone manual digit bone": "HP:0041224", + "Fractured 1st metacarpal": "HP:0041225", + "Fracture of the first metacarpal bone": "HP:0041225", + "Fractured metacarpal bone of digit 1": "HP:0041225", + "bone metacarpal bone of digit 1": "HP:0041225", + "Fractured distal tarsal bone": "HP:0041226", + "bone distal tarsal bone": "HP:0041226", + "Fractured distal tarsal bone 2": "HP:0041227", + "bone distal tarsal bone 2": "HP:0041227", + "Fractured distal tarsal bone 3": "HP:0041228", + "bone distal tarsal bone 3": "HP:0041228", + "Fractured metatarsal bone of digit 4": "HP:0041230", + "bone metatarsal bone of digit 4": "HP:0041230", + "Fractured metatarsal bone of digit 1": "HP:0041231", + "bone metatarsal bone of digit 1": "HP:0041231", + "obsolete Fractured skeleton of manual acropodium": "HP:0041232", + "Fractured ilium": "HP:0041233", + "bone ilium": "HP:0041233", + "Fractured bone of jaw": "HP:0041234", + "bone bone of jaw": "HP:0041234", + "Fractured hindlimb bone": "HP:0041235", + "bone hindlimb bone": "HP:0041235", + "Fractured middle finger phalanx": "HP:0041236", + "Fractured middle phalanx of manus": "HP:0041236", + "bone middle phalanx of manus": "HP:0041236", + "Fractured patella": "HP:0041237", + "bone patella": "HP:0041237", + "Fractured thumb phalanx": "HP:0041239", + "Fractured manual digit 1 phalanx": "HP:0041239", + "bone manual digit 1 phalanx": "HP:0041239", + "Fractured phalanx of pes": "HP:0041240", + "bone phalanx of pes": "HP:0041240", + "Fractured finger phalanx": "HP:0041241", + "Fractured phalanx of manus": "HP:0041241", + "bone phalanx of manus": "HP:0041241", + "Fractured proximal finger phalanx": "HP:0041243", + "Fractured proximal phalanx of manus": "HP:0041243", + "bone proximal phalanx of manus": "HP:0041243", + "Fractured scapula": "HP:0041244", + "bone scapula": "HP:0041244", + "Fractured shoulder bone": "HP:0041245", + "bone shoulder bone": "HP:0041245", + "Fractured sternum": "HP:0041246", + "bone sternum": "HP:0041246", + "Fractured tarsal bone": "HP:0041247", + "bone tarsal bone": "HP:0041247", + "Fractured carpal bone": "HP:0041248", + "Broken wrist": "HP:0041248", + "Carpal bone fracture": "HP:0041248", + "Fractured wrist": "HP:0041248", + "Wrist fracture": "HP:0041248", + "bone carpal bone": "HP:0041248", + "Fractured nose": "HP:0041249", + "bone nose": "HP:0041249", + "Abnormal ossification of the trapezium": "HP:0045001", + "Absent ossification of the trapezium": "HP:0045002", + "Abnormal ossification of the scaphoid": "HP:0045003", + "Abnormal ossification of the trapezoid bone": "HP:0045004", + "Neural tube defect": "HP:0045005", + "Abnormality of neural tube closure": "HP:0045005", + "NTD": "HP:0045005", + "Aplasia of lymphatic vessels": "HP:0045006", + "Absent lymphatic vessels": "HP:0045006", + "Abnormal substantia nigra morphology": "HP:0045007", + "Abnormality of the substantia nigra": "HP:0045007", + "Abnormal shape of the radius": "HP:0045008", + "obsolete Abnormal morphology of the radius": "HP:0045009", + "Abnormal peripheral nerve morphology by anatomical site": "HP:0045010", + "Decreased urine bicarbonate concentration": "HP:0045011", + "Decreased urine HCO3 concentration": "HP:0045011", + "Decreased urinary catecholamine concentration": "HP:0045012", + "obsolete Decreased urinary glucose concentration": "HP:0045013", + "Hypolipidemia": "HP:0045014", + "obsolete Elevated serum long-chain fatty acids": "HP:0045016", + "Congenital malformation of the left heart": "HP:0045017", + "Partial duplication of eyebrows": "HP:0045018", + "Partial double eyebrow": "HP:0045018", + "Narrow palpebral fissure": "HP:0045025", + "Narrow palpebral fissures": "HP:0045025", + "Small opening between the eyelids": "HP:0045025", + "Small palpebral fissures": "HP:0045025", + "Decreased size of palpebral fissure": "HP:0045025", + "Narrow eyelid opening": "HP:0045025", + "Abnormal mediastinum morphology": "HP:0045026", + "Abnormality of the mediastinum": "HP:0045026", + "Abnormality of the thoracic cavity": "HP:0045027", + "Microlissencephaly": "HP:0045028", + "Lissencephaly type III": "HP:0045028", + "Type 3 lissencephaly": "HP:0045028", + "Type III lissencephaly": "HP:0045028", + "Eosinophilic fasciitis": "HP:0045029", + "Elevated urinary 3-aminoisobutyric acid": "HP:0045034", + "Decreased urinary copper concentration": "HP:0045035", + "Abnormal urinary copper concentration": "HP:0045036", + "Abnormality of jaw muscles": "HP:0045037", + "Gastric lymphoma": "HP:0045038", + "Primary gastric lymphoma": "HP:0045038", + "Osteolysis involving bones of the upper limbs": "HP:0045039", + "Abnormal circulating lactate dehydrogenase concentration": "HP:0045040", + "Abnormal LDH level": "HP:0045040", + "Abnormal circulating LDH concentration": "HP:0045040", + "Abnormal lactate dehydrogenase level": "HP:0045040", + "AbnormalLDH level": "HP:0045040", + "Reduced circulating lactate dehydrogenase concentration": "HP:0045041", + "Decreased circulating complement C4 concentration": "HP:0045042", + "Decreased serum complement C4": "HP:0045042", + "Decreased serum complement C4 level": "HP:0045042", + "Decreased circulating complement C4a concentration": "HP:0045043", + "C4a deficiency": "HP:0045043", + "Complement component 4A deficiency": "HP:0045043", + "Decreased serum complement C4a": "HP:0045043", + "Decreased circulating complement C4b concentration": "HP:0045044", + "C4b deficiency": "HP:0045044", + "Complement component 4B deficiency": "HP:0045044", + "Elevated circulating acylcarnitine concentration": "HP:0045045", + "Elevated plasma acylcarnitine levels": "HP:0045045", + "Reduced insulin like growth factor binding protein acid labile subunit concentration": "HP:0045046", + "Acid-labile subunit deficiency": "HP:0045046", + "Decreased levels of acid labile subunit": "HP:0045046", + "Reduced insulin like growth factor binding protein acid labile subunit level": "HP:0045046", + "HbS hemoglobin": "HP:0045047", + "HbS haemoglobin": "HP:0045047", + "Increased HbA2 hemoglobin": "HP:0045048", + "Increased HbA2 haemoglobin": "HP:0045048", + "Increased haemoglobin A2": "HP:0045048", + "Increased hemoglobin A2": "HP:0045048", + "Abnormal DLCO": "HP:0045049", + "Abnormal TLCO": "HP:0045049", + "Abnormal diffusing capacity": "HP:0045049", + "Abnormal transfer factor of the lung for carbon monoxide": "HP:0045049", + "Increased DLCO": "HP:0045050", + "Increased diffusing capacity": "HP:0045050", + "Decreased DLCO": "HP:0045051", + "Decreased diffusing capacity": "HP:0045051", + "Abnormality of the brachial nerve plexus": "HP:0045052", + "Abnormality of the lumbosacral nerve plexus": "HP:0045053", + "Brachial plexus neuropathy": "HP:0045054", + "Tiger tail banding": "HP:0045055", + "Tiger-tail banding": "HP:0045055", + "Abnormal circulating alpha-fetoprotein concentration": "HP:0045056", + "Decreased circulating alpha-fetoprotein concentration": "HP:0045057", + "Abnormality of the testis size": "HP:0045058", + "Hyperkeratotic papule": "HP:0045059", + "Aplasia/hypoplasia involving bones of the extremities": "HP:0045060", + "Decreased carnitine level in liver": "HP:0045061", + "Increased PIVKA-II": "HP:0045063", + "Increased prothrombin induced by vitamin K absence-II": "HP:0045063", + "Serositis": "HP:0045073", + "Thin eyebrow": "HP:0045074", + "Thin eyebrows": "HP:0045074", + "Sparse eyebrow": "HP:0045075", + "Hypotrichosis of eyebrow": "HP:0045075", + "Sparse eyebrows": "HP:0045075", + "Distal femoral metaphyseal irregularity": "HP:0045079", + "Irregular distal femoral metaphyses": "HP:0045079", + "Decreased proportion of CD3-positive T cells": "HP:0045080", + "Decreased proportion of CD3+ T cells": "HP:0045080", + "Abnormality of body mass index": "HP:0045081", + "Abnormal BMI": "HP:0045081", + "Abnormal body mass index": "HP:0045081", + "Decreased body mass index": "HP:0045082", + "Decreased BMI": "HP:0045082", + "obsolete Increased body mass index": "HP:0045083", + "Limb myoclonus": "HP:0045084", + "Myoclonus of limbs": "HP:0045084", + "Atrophy of masseter muscle": "HP:0045085", + "Atrophied masseter muscle": "HP:0045085", + "Masseter muscle atrophy": "HP:0045085", + "Knee joint hypermobility": "HP:0045086", + "Knee joint over-flexibility": "HP:0045086", + "Hip joint hypermobility": "HP:0045087", + "Clinical relevance": "HP:0045088", + "Distinctive finding": "HP:0045089", + "Minor finding": "HP:0045090", + "Anorgasmia": "HP:0046502", + "Increased libido": "HP:0046503", + "Decreased libido": "HP:0046504", + "Hand pain": "HP:0046505", + "Pain in head and neck region": "HP:0046506", + "Bradypnea": "HP:0046507", + "Abnormal cervical spine morphology": "HP:0046508", + "Early onset of sexual maturation": "HP:0100000", + "Malignant mesothelioma": "HP:0100001", + "Pleural mesothelioma": "HP:0100002", + "Peritoneal mesothelioma": "HP:0100003", + "Pericardial mesothelioma": "HP:0100004", + "Testicular mesothelioma": "HP:0100005", + "Neoplasm of the central nervous system": "HP:0100006", + "Neoplasm of the CNS": "HP:0100006", + "Tumors of the central nervous system": "HP:0100006", + "Tumours of the central nervous system": "HP:0100006", + "Neoplasia of the central nervous system": "HP:0100006", + "Neoplasm of the peripheral nervous system": "HP:0100007", + "Tumor of the peripheral nervous system": "HP:0100007", + "Tumour of the peripheral nervous system": "HP:0100007", + "Schwannoma": "HP:0100008", + "Neurilemmoma": "HP:0100008", + "Neurinoma": "HP:0100008", + "Neurolemmoma": "HP:0100008", + "Schwann cell tumor": "HP:0100008", + "Schwann cell tumour": "HP:0100008", + "Schwannomas": "HP:0100008", + "Intracranial meningioma": "HP:0100009", + "Spinal meningioma": "HP:0100010", + "Scleral schwannoma": "HP:0100011", + "Neoplasm of the eye": "HP:0100012", + "Eye tumor": "HP:0100012", + "Eye tumour": "HP:0100012", + "Neoplasia of the eye": "HP:0100012", + "Neoplasm of the breast": "HP:0100013", + "Breast tumor": "HP:0100013", + "Breast tumour": "HP:0100013", + "Tumours of the breast": "HP:0100013", + "Neoplasia of the breast": "HP:0100013", + "Epiretinal membrane": "HP:0100014", + "Macular pucker": "HP:0100014", + "Premacular fibrosis": "HP:0100014", + "Epiretinal membranes": "HP:0100014", + "Stahl ear": "HP:0100015", + "Additional crus": "HP:0100015", + "Third crus": "HP:0100015", + "Abnormal mesentery morphology": "HP:0100016", + "Abnormality of mesentery morphology": "HP:0100016", + "Abnormality of the mesentery": "HP:0100016", + "Capsular cataract": "HP:0100017", + "Nuclear cataract": "HP:0100018", + "Yellowish cloudy center of lens": "HP:0100018", + "Yellowish cloudy centre of lens": "HP:0100018", + "Cortical cataract": "HP:0100019", + "Posterior capsular cataract": "HP:0100020", + "Cerebral palsy": "HP:0100021", + "CP": "HP:0100021", + "Cerebral paralysis": "HP:0100021", + "Abnormality of movement": "HP:0100022", + "Movement disorder": "HP:0100022", + "Unusual movement": "HP:0100022", + "Recurrent hand flapping": "HP:0100023", + "Conspicuously happy disposition": "HP:0100024", + "Conspicious happy aspect": "HP:0100024", + "Happy aspect": "HP:0100024", + "Overfriendliness": "HP:0100025", + "Excessive eagerness to interact with others": "HP:0100025", + "Excessive friendliness": "HP:0100025", + "Excessive gregariousness": "HP:0100025", + "Hypersociability": "HP:0100025", + "Arteriovenous malformation": "HP:0100026", + "Recurrent pancreatitis": "HP:0100027", + "Recurring pancreas inflammation": "HP:0100027", + "Recurring pancreatitis": "HP:0100027", + "Ectopic thyroid": "HP:0100028", + "Aberrant thyroid": "HP:0100028", + "Aberrant thyroid gland": "HP:0100028", + "Abnormal thyroid location": "HP:0100028", + "Ectopic thyroid gland": "HP:0100028", + "Heteropic thyroid gland": "HP:0100028", + "Lingual thyroid": "HP:0100029", + "Accessory ectopic thyroid tissue": "HP:0100030", + "Neoplasm of the thyroid gland": "HP:0100031", + "Neoplasia of the thyroid gland": "HP:0100031", + "Tics": "HP:0100033", + "Tic disorder": "HP:0100033", + "Motor tics": "HP:0100034", + "Phonic tics": "HP:0100035", + "Verbal tics": "HP:0100035", + "Vocal tics": "HP:0100035", + "Pseudo-fractures": "HP:0100036", + "Looser zones": "HP:0100036", + "Abnormality of the scalp hair": "HP:0100037", + "Slow-growing scalp hair": "HP:0100038", + "Thickened cortex of bones": "HP:0100039", + "Broad 2nd toe": "HP:0100040", + "Wide 2nd toe": "HP:0100040", + "Broad 3rd toe": "HP:0100041", + "Wide 3rd toe": "HP:0100041", + "Broad 4th toe": "HP:0100042", + "Wide 4th toe": "HP:0100042", + "Broad 5th toe": "HP:0100043", + "Broad little toe": "HP:0100043", + "Broad pinkie toe": "HP:0100043", + "Broad pinky toe": "HP:0100043", + "Absent epiphyses of the 2nd toe": "HP:0100044", + "Absent end part of the 2nd toe bone": "HP:0100044", + "Bracket epiphyses of the 2nd toe": "HP:0100045", + "Bracket shaped end part of 2nd toe bone": "HP:0100045", + "Cone-shaped epiphyses of the 2nd toe": "HP:0100046", + "Cone-shaped end part of the 2nd toe bone": "HP:0100046", + "Enlarged epiphyses of the 2nd toe": "HP:0100047", + "Enlarged end part of the 2nd toe bone": "HP:0100047", + "Fragmentation of the epiphyses of the 2nd toe": "HP:0100048", + "Fragmentation of the end part of the 2nd toe bone": "HP:0100048", + "Irregular epiphyses of the 2nd toe": "HP:0100049", + "Irregular end part of the 2nd toe bone": "HP:0100049", + "Ivory epiphyses of the 2nd toe": "HP:0100050", + "Increased bone density of end part of the 2nd toe": "HP:0100050", + "Pseudoepiphyses of the 2nd toe": "HP:0100051", + "Small epiphyses of the 2nd toe": "HP:0100052", + "Small end part of the 2nd toe bone": "HP:0100052", + "Stippling of the epiphyses of the 2nd toe": "HP:0100053", + "Speckled calcifications in the end part of the 2nd toe bone": "HP:0100053", + "Triangular epiphyses of the 2nd toe": "HP:0100054", + "Triangular end part of the 2nd toe bone": "HP:0100054", + "Absent epiphyses of the 3rd toe": "HP:0100055", + "Absent end part of the 3rd toe": "HP:0100055", + "Bracket epiphyses of the 3rd toe": "HP:0100056", + "Bracket shaped end part of 3rd toe bone": "HP:0100056", + "Cone-shaped epiphyses of the 3rd toe": "HP:0100057", + "Cone-shaped end part of the 3rd toe bone": "HP:0100057", + "Enlarged epiphyses of the 3rd toe": "HP:0100058", + "Enlarged end part of the 3rd toe bone": "HP:0100058", + "Fragmentation of the epiphyses of the 3rd toe": "HP:0100059", + "Fragmentation of the end part of the 3rd toe bone": "HP:0100059", + "Irregular epiphyses of the 3rd toe": "HP:0100060", + "Irregular end part of the 3rd toe bone": "HP:0100060", + "Ivory epiphyses of the 3rd toe": "HP:0100061", + "Increased bone density of end part of the 3rd toe bone": "HP:0100061", + "Pseudoepiphyses of the 3rd toe": "HP:0100062", + "Small epiphyses of the 3rd toe": "HP:0100063", + "Small end part of the 3rd toe bone": "HP:0100063", + "Stippling of the epiphyses of the 3rd toe": "HP:0100064", + "Speckled calcifications in the end part of the 3rd toe bone": "HP:0100064", + "Triangular epiphyses of the 3rd toe": "HP:0100065", + "Triangular end part of the 3rd toe bone": "HP:0100065", + "Absent epiphyses of the 4th toe": "HP:0100066", + "Absent end part of the 4th toe bone": "HP:0100066", + "Bracket epiphyses of the 4th toe": "HP:0100067", + "Bracket shaped end part of 4th toe bone": "HP:0100067", + "Cone-shaped epiphyses of the 4th toe": "HP:0100068", + "Cone-shaped end part of the 4th toe bone": "HP:0100068", + "Enlarged epiphyses of the 4th toe": "HP:0100069", + "Enlarged end part of the 4th toe bone": "HP:0100069", + "Fragmentation of the epiphyses of the 4th toe": "HP:0100070", + "Fragmentation of the end part of the 4th toe bone": "HP:0100070", + "Irregular epiphyses of the 4th toe": "HP:0100071", + "Irregular end part of the 4th toe bone": "HP:0100071", + "Ivory epiphyses of the 4th toe": "HP:0100072", + "Increased bone density of end part of the 4th toe bone": "HP:0100072", + "Pseudoepiphyses of the 4th toe": "HP:0100073", + "Small epiphyses of the 4th toe": "HP:0100074", + "Small end part of the 4th toe bone": "HP:0100074", + "Stippling of the epiphyses of the 4th toe": "HP:0100075", + "Speckled calcifications in the end part of the 4th toe bone": "HP:0100075", + "Triangular epiphyses of the 4th toe": "HP:0100076", + "Triangular end part of the 4th toe bone": "HP:0100076", + "Absent epiphyses of the 5th toe": "HP:0100077", + "Absent end part of the little toe bone": "HP:0100077", + "Absent end part of the pinkie toe bone": "HP:0100077", + "Absent end part of the pinky toe bone": "HP:0100077", + "Bracket epiphyses of the 5th toe": "HP:0100078", + "Bracket shaped end part of little toe bone": "HP:0100078", + "Bracket shaped end part of pinkie toe bone": "HP:0100078", + "Bracket shaped end part of pinky toe bone": "HP:0100078", + "Cone-shaped epiphyses of the 5th toe": "HP:0100079", + "Cone-shaped end part of the little toe bone": "HP:0100079", + "Cone-shaped end part of the pinkie toe bone": "HP:0100079", + "Cone-shaped end part of the pinky toe bone": "HP:0100079", + "Enlarged epiphyses of the 5th toe": "HP:0100080", + "Enlarged end part of the little toe bone": "HP:0100080", + "Enlarged end part of the pinkie toe bone": "HP:0100080", + "Enlarged end part of the pinky toe bone": "HP:0100080", + "Fragmentation of the epiphyses of the 5th toe": "HP:0100081", + "Fragmentation of the end part of the little toe bone": "HP:0100081", + "Fragmentation of the end part of the pinkie toe bone": "HP:0100081", + "Fragmentation of the end part of the pinky toe bone": "HP:0100081", + "Irregular epiphyses of the 5th toe": "HP:0100082", + "Irregular end part of the little toe bone": "HP:0100082", + "Irregular end part of the pinkie toe bone": "HP:0100082", + "Irregular end part of the pinky toe bone": "HP:0100082", + "Ivory epiphyses of the 5th toe": "HP:0100083", + "Increased bone density of end part of the little toe bone": "HP:0100083", + "Increased bone density of end part of the pinkie toe bone": "HP:0100083", + "Increased bone density of end part of the pinky toe bone": "HP:0100083", + "Pseudoepiphyses of the 5th toe": "HP:0100084", + "Small epiphyses of the 5th toe": "HP:0100085", + "Small end part of the little toe bone": "HP:0100085", + "Small end part of the pinkie toe bone": "HP:0100085", + "Small end part of the pinky toe bone": "HP:0100085", + "Stippling of the epiphyses of the 5th toe": "HP:0100086", + "Speckled calcifications in the end part of the little toe bone": "HP:0100086", + "Speckled calcifications in the end part of the pinkie toe bone": "HP:0100086", + "Speckled calcifications in the end part of the pinky toe bone": "HP:0100086", + "Triangular epiphyses of the 5th toe": "HP:0100087", + "Triangular end part of the little toe bone": "HP:0100087", + "Triangular end part of the pinkie toe bone": "HP:0100087", + "Triangular end part of the pinky toe bone": "HP:0100087", + "Abnormality of the epiphysis of the distal phalanx of the 2nd toe": "HP:0100088", + "Abnormality of the end part of the outermost bone of the 2nd toe": "HP:0100088", + "Abnormality of the epiphysis of the middle phalanx of the 2nd toe": "HP:0100089", + "Abnormality of the end part of the middle bone of the 2nd toe": "HP:0100089", + "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe": "HP:0100090", + "Abnormality of the end part of the innermost bone of the 2nd toe": "HP:0100090", + "Abnormality of the epiphysis of the distal phalanx of the 3rd toe": "HP:0100091", + "Abnormality of the end part of the outermost bone of the 3rd toe": "HP:0100091", + "Abnormality of the epiphysis of the middle phalanx of the 3rd toe": "HP:0100092", + "Abnormality of the end part of the middle bone of the 3rd toe": "HP:0100092", + "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe": "HP:0100093", + "Abnormality of the end part of the innermost bone of the 3rd toe": "HP:0100093", + "Abnormality of the epiphysis of the distal phalanx of the 4th toe": "HP:0100094", + "Abnormality of the end part of the outermost bone of the 4th toe": "HP:0100094", + "Abnormality of the epiphysis of the middle phalanx of the 4th toe": "HP:0100095", + "Abnormality of the end part of the middle bone of the 4th toe": "HP:0100095", + "Abnormality of the epiphysis of the proximal phalanx of the 4th toe": "HP:0100096", + "Abnormality of the end part of the innermost bone of the 4th toe": "HP:0100096", + "Abnormality of the epiphysis of the distal phalanx of the 5th toe": "HP:0100097", + "Abnormality of the end part of the outermost bone of the little toe": "HP:0100097", + "Abnormality of the end part of the outermost bone of the pinkie toe": "HP:0100097", + "Abnormality of the end part of the outermost bone of the pinky toe": "HP:0100097", + "Abnormality of the epiphysis of the middle phalanx of the 5th toe": "HP:0100098", + "Abnormality of the end part of the middle bone of the little toe": "HP:0100098", + "Abnormality of the end part of the middle bone of the pinkie toe": "HP:0100098", + "Abnormality of the end part of the middle bone of the pinky toe": "HP:0100098", + "Abnormality of the epiphysis of the proximal phalanx of the 5th toe": "HP:0100099", + "Abnormality of the end part of the innermost bone of the little toe": "HP:0100099", + "Abnormality of the end part of the innermost bone of the pinkie toe": "HP:0100099", + "Abnormality of the end part of the innermost bone of the pinky toe": "HP:0100099", + "Absent epiphysis of the distal phalanx of the 2nd toe": "HP:0100100", + "Absent end part of the outermost bone of the 2nd toe": "HP:0100100", + "Bracket epiphysis of the distal phalanx of the 2nd toe": "HP:0100101", + "Bracket shaped end part of the outermost bone of the 2nd toe": "HP:0100101", + "Cone-shaped epiphysis of the distal phalanx of the 2nd toe": "HP:0100102", + "Cone-shaped end part of the outermost bone of the 2nd toe": "HP:0100102", + "Enlarged epiphysis of the distal phalanx of the 2nd toe": "HP:0100103", + "Enlarged end part of the outermost bone of the 2nd toe": "HP:0100103", + "Fragmentation of the epiphysis of the distal phalanx of the 2nd toe": "HP:0100104", + "Fragmentation of the end part of the outermost bone of the 2nd toe": "HP:0100104", + "Irregular epiphysis of the distal phalanx of the 2nd toe": "HP:0100105", + "Irregular end part of the outermost bone of the 2nd toe": "HP:0100105", + "Ivory epiphysis of the distal phalanx of the 2nd toe": "HP:0100106", + "Increased bone density of end part of the outermost bone of the 2nd toe": "HP:0100106", + "Pseudoepiphysis of the distal phalanx of the 2nd toe": "HP:0100107", + "Small epiphysis of the distal phalanx of the 2nd toe": "HP:0100108", + "Small end part of the outermost bone of the 2nd toe": "HP:0100108", + "Stippling of the epiphysis of the distal phalanx of the 2nd toe": "HP:0100109", + "Speckled calcifications in the end part of the outermost bone of the 2nd toe": "HP:0100109", + "Triangular epiphysis of the distal phalanx of the 2nd toe": "HP:0100110", + "Triangular end part of the outermost bone of the 2nd toe": "HP:0100110", + "Absent epiphysis of the middle phalanx of the 2nd toe": "HP:0100111", + "Absent end part of the middle bone of the 2nd toe": "HP:0100111", + "Bracket epiphysis of the middle phalanx of the 2nd toe": "HP:0100112", + "Bracket shaped end part of the middle bone of the 2nd toe": "HP:0100112", + "Cone-shaped epiphysis of the middle phalanx of the 2nd toe": "HP:0100113", + "Cone-shaped end part of the middle bone of the 2nd toe": "HP:0100113", + "Enlarged epiphysis of the middle phalanx of the 2nd toe": "HP:0100114", + "Enlarged end part of the middle bone of the 2nd toe": "HP:0100114", + "Fragmentation of the epiphysis of the middle phalanx of the 2nd toe": "HP:0100115", + "Fragmentation of the end part of the middle bone of the 2nd toe": "HP:0100115", + "Irregular epiphysis of the middle phalanx of the 2nd toe": "HP:0100116", + "Irregular end part of the middle bone of the 2nd toe": "HP:0100116", + "Ivory epiphysis of the middle phalanx of the 2nd toe": "HP:0100117", + "Increased bone density of end part of the middle bone of the 2nd toe": "HP:0100117", + "Pseudoepiphysis of the middle phalanx of the 2nd toe": "HP:0100118", + "Small epiphysis of the middle phalanx of the 2nd toe": "HP:0100119", + "Small end part of the middle bone of the 2nd toe": "HP:0100119", + "Stippling of the epiphysis of the middle phalanx of the 2nd toe": "HP:0100120", + "Speckled calcifications in of the end part of the middle bone of the 2nd toe": "HP:0100120", + "Triangular epiphysis of the middle phalanx of the 2nd toe": "HP:0100121", + "Triangular end part of the middle bone of the 2nd toe": "HP:0100121", + "Absent epiphysis of the proximal phalanx of the 2nd toe": "HP:0100122", + "Absent end part of the innermost bone of the 2nd toe": "HP:0100122", + "Bracket epiphysis of the proximal phalanx of the 2nd toe": "HP:0100123", + "Bracket shaped end part of the innermost bone of the 2nd toe": "HP:0100123", + "Cone-shaped epiphysis of the proximal phalanx of the 2nd toe": "HP:0100124", + "Cone-shaped end part of the innermost bone of the 2nd toe": "HP:0100124", + "Enlarged epiphysis of the proximal phalanx of the 2nd toe": "HP:0100125", + "Enlarged end part of the innermost bone of the 2nd toe": "HP:0100125", + "Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe": "HP:0100126", + "Fragmentation of the end part of the innermost bone of the 2nd toe": "HP:0100126", + "Irregular epiphysis of the proximal phalanx of the 2nd toe": "HP:0100127", + "Irregular end part of the innermost bone of the 2nd toe": "HP:0100127", + "Ivory epiphysis of the proximal phalanx of the 2nd toe": "HP:0100128", + "Increased bone density of end part of the innermost bone of the 2nd toe": "HP:0100128", + "Pseudoepiphysis of the proximal phalanx of the 2nd toe": "HP:0100129", + "Small epiphysis of the proximal phalanx of the 2nd toe": "HP:0100130", + "Small end part of the innermost bone of the 2nd toe": "HP:0100130", + "Stippling of the epiphysis of the proximal phalanx of the 2nd toe": "HP:0100131", + "Speckled calcifications in the end part of the innermost bone of the 2nd toe": "HP:0100131", + "Triangular epiphysis of the proximal phalanx of the 2nd toe": "HP:0100132", + "Triangular end part of the innermost bone of the 2nd toe": "HP:0100132", + "Abnormality of the pubic hair": "HP:0100133", + "Abnormality of the axillary hair": "HP:0100134", + "Absent epiphysis of the distal phalanx of the 3rd toe": "HP:0100135", + "Absent end part of the outermost bone of the 3rd toe": "HP:0100135", + "Bracket epiphysis of the distal phalanx of the 3rd toe": "HP:0100136", + "Bracket shaped end part of the outermost bone of the 3rd toe": "HP:0100136", + "Cone-shaped epiphysis of the distal phalanx of the 3rd toe": "HP:0100137", + "Cone-shaped end part of the outermost bone of the 3rd toe": "HP:0100137", + "Enlarged epiphysis of the distal phalanx of the 3rd toe": "HP:0100138", + "Enlarged end part of the outermost bone of the 3rd toe": "HP:0100138", + "Fragmentation of the epiphysis of the distal phalanx of the 3rd toe": "HP:0100139", + "Fragmentation of the end part of the outermost bone of the 3rd toe": "HP:0100139", + "Irregular epiphysis of the distal phalanx of the 3rd toe": "HP:0100140", + "Irregular end part of the outermost bone of the 3rd toe": "HP:0100140", + "Ivory epiphysis of the distal phalanx of the 3rd toe": "HP:0100141", + "Increased bone density of end part of the outermost bone of the 3rd toe": "HP:0100141", + "Pseudoepiphysis of the distal phalanx of the 3rd toe": "HP:0100142", + "Small epiphysis of the distal phalanx of the 3rd toe": "HP:0100143", + "Small end part of the outermost bone of the 3rd toe": "HP:0100143", + "Stippling of the epiphysis of the distal phalanx of the 3rd toe": "HP:0100144", + "Speckled calcifications in the end part of the outermost bone of the 3rd toe": "HP:0100144", + "Triangular epiphysis of the distal phalanx of the 3rd toe": "HP:0100145", + "Triangular end part of the outermost bone of the 3rd toe": "HP:0100145", + "Absent epiphysis of the middle phalanx of the 3rd toe": "HP:0100146", + "Absent end part of the middle bone of the 3rd toe": "HP:0100146", + "Bracket epiphysis of the middle phalanx of the 3rd toe": "HP:0100147", + "Bracket shaped end part of the middle bone of 3rd toe": "HP:0100147", + "Cone-shaped epiphysis of the middle phalanx of the 3rd toe": "HP:0100148", + "Cone-shaped end part of the middle bone of the 3rd toe": "HP:0100148", + "Enlarged epiphysis of the middle phalanx of the 3rd toe": "HP:0100149", + "Enlarged end part of the middle bone of the 3rd toe": "HP:0100149", + "Fragmentation of the epiphysis of the middle phalanx of the 3rd toe": "HP:0100150", + "Fragmentation of the end part of the middle bone of the 3rd toe": "HP:0100150", + "Irregular epiphysis of the middle phalanx of the 3rd toe": "HP:0100151", + "Irregular end part of the middle bone of the 3rd toe": "HP:0100151", + "Ivory epiphysis of the middle phalanx of the 3rd toe": "HP:0100152", + "Increased bone density of end part of the middle bone of the 3rd toe": "HP:0100152", + "Pseudoepiphysis of the middle phalanx of the 3rd toe": "HP:0100153", + "Small epiphysis of the middle phalanx of the 3rd toe": "HP:0100154", + "Small end part of the middle bone of the 3rd toe": "HP:0100154", + "Stippling of the epiphysis of the middle phalanx of the 3rd toe": "HP:0100155", + "Speckled calcifications in the end part of the middle bone of the 3rd toe": "HP:0100155", + "Triangular epiphysis of the middle phalanx of the 3rd toe": "HP:0100156", + "Triangular end part of the middle bone of the 3rd toe": "HP:0100156", + "Absent epiphysis of the proximal phalanx of the 3rd toe": "HP:0100157", + "Absent end part of the innermost bone of the 3rd toe": "HP:0100157", + "Bracket epiphysis of the proximal phalanx of the 3rd toe": "HP:0100158", + "Bracket shaped end part of the innermost bone of 3rd toe": "HP:0100158", + "Cone-shaped epiphysis of the proximal phalanx of the 3rd toe": "HP:0100159", + "Cone-shaped end part of the innermost bone of the 3rd toe": "HP:0100159", + "Enlarged epiphysis of the proximal phalanx of the 3rd toe": "HP:0100160", + "Enlarged end part of the innermost bone of the 3rd toe": "HP:0100160", + "Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe": "HP:0100161", + "Fragmentation of the end part of the innermost bone of the 3rd toe": "HP:0100161", + "Irregular epiphysis of the proximal phalanx of the 3rd toe": "HP:0100162", + "Irregular end part of the innermost bone of the 3rd toe": "HP:0100162", + "Ivory epiphysis of the proximal phalanx of the 3rd toe": "HP:0100163", + "Increased bone density of end part of the innermost bone of the 3rd toe": "HP:0100163", + "Pseudoepiphysis of the proximal phalanx of the 3rd toe": "HP:0100164", + "Small epiphysis of the proximal phalanx of the 3rd toe": "HP:0100165", + "Small end part of the innermost bone of the 3rd toe": "HP:0100165", + "Stippling of the epiphysis of the proximal phalanx of the 3rd toe": "HP:0100166", + "Speckled calcifications in of the end part of the innermost bone of the 3rd toe": "HP:0100166", + "Triangular epiphysis of the proximal phalanx of the 3rd toe": "HP:0100167", + "Triangular end part of the innermost bone of the 3rd toe": "HP:0100167", + "Fragmented epiphyses": "HP:0100168", + "Fragmented end part of bone": "HP:0100168", + "Absent epiphysis of the distal phalanx of the 4th toe": "HP:0100169", + "Absent end part of the outermost bone of the 4th toe": "HP:0100169", + "Bracket epiphysis of the distal phalanx of the 4th toe": "HP:0100170", + "Bracket shaped end part of the outermost bone of the 4th toe": "HP:0100170", + "Cone-shaped epiphysis of the distal phalanx of the 4th toe": "HP:0100171", + "Cone-shaped end part of the outermost bone of the 4th toe": "HP:0100171", + "Enlarged epiphysis of the distal phalanx of the 4th toe": "HP:0100172", + "Enlarged end part of the outermost bone of the 4th toe": "HP:0100172", + "Fragmentation of the epiphysis of the distal phalanx of the 4th toe": "HP:0100173", + "Fragmentation of the end part of the outermost bone of the 4th toe": "HP:0100173", + "Irregular epiphysis of the distal phalanx of the 4th toe": "HP:0100174", + "Irregular end part of the outermost bone of the 4th toe": "HP:0100174", + "Ivory epiphysis of the distal phalanx of the 4th toe": "HP:0100175", + "Increased bone density of end part of the outermost bone of the 4th toe": "HP:0100175", + "Pseudoepiphysis of the distal phalanx of the 4th toe": "HP:0100176", + "Small epiphysis of the distal phalanx of the 4th toe": "HP:0100177", + "Small end part of the outermost bone of the 4th toe": "HP:0100177", + "Stippling of the epiphysis of the distal phalanx of the 4th toe": "HP:0100178", + "Speckled calcifications in the end part of the outermost bone of the 4th toe": "HP:0100178", + "Triangular epiphysis of the distal phalanx of the 4th toe": "HP:0100179", + "Triangular end part of the outermost bone of the 4th toe": "HP:0100179", + "Absent epiphysis of the middle phalanx of the 4th toe": "HP:0100180", + "Absent end part of the middle bone of the 4th toe": "HP:0100180", + "Bracket epiphysis of the middle phalanx of the 4th toe": "HP:0100181", + "Bracket shaped end part of the middle bone of the 4th toe": "HP:0100181", + "Cone-shaped epiphysis of the middle phalanx of the 4th toe": "HP:0100182", + "Cone-shaped end part of the middle bone of the 4th toe": "HP:0100182", + "Enlarged epiphysis of the middle phalanx of the 4th toe": "HP:0100183", + "Enlarged end part of the middle bone of the 4th toe": "HP:0100183", + "Fragmentation of the epiphysis of the middle phalanx of the 4th toe": "HP:0100184", + "Fragmentation of the end part of the middle bone of the 4th toe": "HP:0100184", + "Irregular epiphysis of the middle phalanx of the 4th toe": "HP:0100185", + "Irregular end part of the middle bone of the 4th toe": "HP:0100185", + "Ivory epiphysis of the middle phalanx of the 4th toe": "HP:0100186", + "Increased bone density of end part of the middle bone of the 4th toe": "HP:0100186", + "Pseudoepiphysis of the middle phalanx of the 4th toe": "HP:0100187", + "Small epiphysis of the middle phalanx of the 4th toe": "HP:0100188", + "Small end part of middle long bone of 4th toe": "HP:0100188", + "Stippling of the epiphysis of the middle phalanx of the 4th toe": "HP:0100189", + "Speckled calcifications in the end part of the middle bone of the 4th toe": "HP:0100189", + "Triangular epiphysis of the middle phalanx of the 4th toe": "HP:0100190", + "Triangular end part of the middle bone of the 4th toe": "HP:0100190", + "Absent epiphysis of the proximal phalanx of the 4th toe": "HP:0100191", + "Absent end part of the innermost bone of the 4th toe": "HP:0100191", + "Bracket epiphysis of the proximal phalanx of the 4th toe": "HP:0100192", + "Bracket shaped end part of the innermost bone of 4th toe": "HP:0100192", + "Cone-shaped epiphysis of the proximal phalanx of the 4th toe": "HP:0100193", + "Cone-shaped end part of the innermost bone of the 4th toe": "HP:0100193", + "Enlarged epiphysis of the proximal phalanx of the 4th toe": "HP:0100194", + "Enlarged end part of the innermost bone of the 4th toe": "HP:0100194", + "Fragmentation of the epiphysis of the proximal phalanx of the 4th toe": "HP:0100195", + "Fragmentation of the end part of the innermost bone of the 4th toe": "HP:0100195", + "Irregular epiphysis of the proximal phalanx of the 4th toe": "HP:0100196", + "Irregular end part of the innermost bone of the 4th toe": "HP:0100196", + "Ivory epiphysis of the proximal phalanx of the 4th toe": "HP:0100197", + "Increased bone density of end part of the innermost bone of the 4th toe": "HP:0100197", + "Pseudoepiphysis of the proximal phalanx of the 4th toe": "HP:0100198", + "Small epiphysis of the proximal phalanx of the 4th toe": "HP:0100199", + "Small end part of the innermost bone of the 4th toe": "HP:0100199", + "Stippling of the epiphysis of the proximal phalanx of the 4th toe": "HP:0100200", + "Speckled calcifications in the end part of the innermost bone of the 4th toe": "HP:0100200", + "Triangular epiphysis of the proximal phalanx of the 4th toe": "HP:0100201", + "Triangular end part of the innermost bone of the 4th toe": "HP:0100201", + "Absent epiphysis of the distal phalanx of the 5th toe": "HP:0100202", + "Absent end part of the outermost bone of the little toe": "HP:0100202", + "Absent end part of the outermost bone of the pinkie toe": "HP:0100202", + "Absent end part of the outermost bone of the pinky toe": "HP:0100202", + "Bracket epiphysis of the distal phalanx of the 5th toe": "HP:0100203", + "Bracket shaped end part of the outermost bone of the little toe": "HP:0100203", + "Bracket shaped end part of the outermost bone of the pinkie toe": "HP:0100203", + "Bracket shaped end part of the outermost bone of the pinky toe": "HP:0100203", + "Cone-shaped epiphysis of the distal phalanx of the 5th toe": "HP:0100204", + "Cone-shaped end part of the outermost bone of the little toe": "HP:0100204", + "Cone-shaped end part of the outermost bone of the pinkie toe": "HP:0100204", + "Cone-shaped end part of the outermost bone of the pinky toe": "HP:0100204", + "Enlarged epiphysis of the distal phalanx of the 5th toe": "HP:0100205", + "Enlarged end part of the outermost bone of the little toe": "HP:0100205", + "Enlarged end part of the outermost bone of the pinkie toe": "HP:0100205", + "Enlarged end part of the outermost bone of the pinky toe": "HP:0100205", + "Fragmentation of the epiphysis of the distal phalanx of the 5th toe": "HP:0100206", + "Fragmentation of the end part of the outermost bone of the little toe": "HP:0100206", + "Fragmentation of the end part of the outermost bone of the pinkie toe": "HP:0100206", + "Fragmentation of the end part of the outermost bone of the pinky toe": "HP:0100206", + "Irregular epiphysis of the distal phalanx of the 5th toe": "HP:0100207", + "Irregular end part of the outermost bone of the little toe": "HP:0100207", + "Irregular end part of the outermost bone of the pinkie toe": "HP:0100207", + "Irregular end part of the outermost bone of the pinky toe": "HP:0100207", + "Ivory epiphysis of the distal phalanx of the 5th toe": "HP:0100208", + "Increased bone density of end part of the outermost bone of the little toe": "HP:0100208", + "Increased bone density of end part of the outermost bone of the pinkie toe": "HP:0100208", + "Increased bone density of end part of the outermost bone of the pinky toe": "HP:0100208", + "Pseudoepiphysis of the distal phalanx of the 5th toe": "HP:0100209", + "Small epiphysis of the distal phalanx of the 5th toe": "HP:0100210", + "Small end part of the outermost bone of the little toe": "HP:0100210", + "Small end part of the outermost bone of the pinkie toe": "HP:0100210", + "Small end part of the outermost bone of the pinky toe": "HP:0100210", + "Stippling of the epiphysis of the distal phalanx of the 5th toe": "HP:0100211", + "Speckled calcifications in the end part of the outermost bone of the little toe": "HP:0100211", + "Speckled calcifications in the end part of the outermost bone of the pinkie toe": "HP:0100211", + "Speckled calcifications in the end part of the outermost bone of the pinky toe": "HP:0100211", + "Triangular epiphysis of the distal phalanx of the 5th toe": "HP:0100212", + "Triangular end part of the outermost bone of the little toe": "HP:0100212", + "Triangular end part of the outermost bone of the pinkie toe": "HP:0100212", + "Triangular end part of the outermost bone of the pinky toe": "HP:0100212", + "Absent epiphysis of the middle phalanx of the 5th toe": "HP:0100213", + "Absent end part of the middle bone of the little toe": "HP:0100213", + "Absent end part of the middle bone of the pinkie toe": "HP:0100213", + "Absent end part of the middle bone of the pinky toe": "HP:0100213", + "Bracket epiphysis of the middle phalanx of the 5th toe": "HP:0100214", + "Bracket shaped end part of the middle bone of the little toe": "HP:0100214", + "Bracket shaped end part of the middle bone of the pinkie toe": "HP:0100214", + "Bracket shaped end part of the middle bone of the pinky toe": "HP:0100214", + "Cone-shaped epiphysis of the middle phalanx of the 5th toe": "HP:0100215", + "Cone-shaped end part of the middle bone of the little toe": "HP:0100215", + "Cone-shaped end part of the middle bone of the pinkie toe": "HP:0100215", + "Cone-shaped end part of the middle bone of the pinky toe": "HP:0100215", + "Enlarged epiphysis of the middle phalanx of the 5th toe": "HP:0100216", + "Enlarged end part of the middle bone of the little toe": "HP:0100216", + "Enlarged end part of the middle bone of the pinkie toe": "HP:0100216", + "Enlarged end part of the middle bone of the pinky toe": "HP:0100216", + "Fragmentation of the epiphysis of the middle phalanx of the 5th toe": "HP:0100217", + "Fragmentation of the end part of the middle bone of the little toe": "HP:0100217", + "Fragmentation of the end part of the middle bone of the pinkie toe": "HP:0100217", + "Fragmentation of the end part of the middle bone of the pinky toe": "HP:0100217", + "Irregular epiphysis of the middle phalanx of the 5th toe": "HP:0100218", + "Irregular end part of the middle bone of the little toe": "HP:0100218", + "Irregular end part of the middle bone of the pinkie toe": "HP:0100218", + "Irregular end part of the middle bone of the pinky toe": "HP:0100218", + "Ivory epiphysis of the middle phalanx of the 5th toe": "HP:0100219", + "Increased bone density of end part of the middle bone of the little toe": "HP:0100219", + "Increased bone density of end part of the middle bone of the pinkie toe": "HP:0100219", + "Increased bone density of end part of the middle bone of the pinky toe": "HP:0100219", + "Pseudoepiphysis of the middle phalanx of the 5th toe": "HP:0100220", + "Small epiphysis of the middle phalanx of the 5th toe": "HP:0100221", + "Small end part of the middle bone of the little toe": "HP:0100221", + "Small end part of the middle bone of the pinkie toe": "HP:0100221", + "Small end part of the middle bone of the pinky toe": "HP:0100221", + "Stippling of the epiphysis of the middle phalanx of the 5th toe": "HP:0100222", + "Speckled calcifications in end part of the innermost bone of the pinkie toe": "HP:0100222", + "Speckled calcifications in middle part of the innermost bone of the little toe": "HP:0100222", + "Speckled calcifications in middle part of the innermost bone of the pinky toe": "HP:0100222", + "Triangular epiphysis of the middle phalanx of the 5th toe": "HP:0100223", + "Triangular end part of the middle bone of the little toe": "HP:0100223", + "Triangular end part of the middle bone of the pinkie toe": "HP:0100223", + "Triangular end part of the middle bone of the pinky toe": "HP:0100223", + "Absent epiphysis of the proximal phalanx of the 5th toe": "HP:0100224", + "Absent end part of the innermost bone of the little toe": "HP:0100224", + "Absent end part of the innermost bone of the pinkie toe": "HP:0100224", + "Absent end part of the innermost bone of the pinky toe": "HP:0100224", + "Bracket epiphysis of the proximal phalanx of the 5th toe": "HP:0100225", + "Bracket shaped end part of the innermost bone of the little toe": "HP:0100225", + "Bracket shaped end part of the innermost bone of the pinkie toe": "HP:0100225", + "Bracket shaped end part of the innermost bone of the pinky toe": "HP:0100225", + "Cone-shaped epiphysis of the proximal phalanx of the 5th toe": "HP:0100226", + "Cone-shaped end part of the innermost bone of the little toe": "HP:0100226", + "Cone-shaped end part of the innermost bone of the pinkie toe": "HP:0100226", + "Cone-shaped end part of the innermost bone of the pinky toe": "HP:0100226", + "Enlarged epiphysis of the proximal phalanx of the 5th toe": "HP:0100227", + "Enlarged end part of the innermost bone of the little toe": "HP:0100227", + "Enlarged end part of the innermost bone of the pinkie toe": "HP:0100227", + "Enlarged end part of the innermost bone of the pinky toe": "HP:0100227", + "Fragmentation of the epiphysis of the proximal phalanx of the 5th toe": "HP:0100228", + "Fragmentation of the end part of the innermost bone of the little toe": "HP:0100228", + "Fragmentation of the end part of the innermost bone of the pinkie toe": "HP:0100228", + "Fragmentation of the end part of the innermost bone of the pinky toe": "HP:0100228", + "Irregular epiphysis of the proximal phalanx of the 5th toe": "HP:0100229", + "Irregular end part of the innermost bone of the little toe": "HP:0100229", + "Irregular end part of the innermost bone of the pinkie toe": "HP:0100229", + "Irregular end part of the innermost bone of the pinky toe": "HP:0100229", + "Ivory epiphysis of the proximal phalanx of the 5th toe": "HP:0100230", + "Increased bone density of end part of the innermost bone of the little toe": "HP:0100230", + "Increased bone density of end part of the innermost bone of the pinkie toe": "HP:0100230", + "Increased bone density of end part of the innermost bone of the pinky toe": "HP:0100230", + "Pseudoepiphysis of the proximal phalanx of the 5th toe": "HP:0100231", + "Small epiphysis of the proximal phalanx of the 5th toe": "HP:0100232", + "Small end part of the innermost bone of the little toe": "HP:0100232", + "Small end part of the innermost bone of the pinkie toe": "HP:0100232", + "Small end part of the innermost bone of the pinky toe": "HP:0100232", + "Stippling of the epiphysis of the proximal phalanx of the 5th toe": "HP:0100233", + "Speckled calcifications in the end part of the innermost bone of the little toe": "HP:0100233", + "Speckled calcifications in the end part of the innermost bone of the pinkie toe": "HP:0100233", + "Speckled calcifications in the end part of the innermost bone of the pinky toe": "HP:0100233", + "Triangular epiphysis of the proximal phalanx of the 5th toe": "HP:0100234", + "Triangular end part of the innermost bone of the little toe": "HP:0100234", + "Triangular end part of the innermost bone of the pinkie toe": "HP:0100234", + "Triangular end part of the innermost bone of the pinky toe": "HP:0100234", + "Synostosis involving bones of the toes": "HP:0100235", + "Fusion involving bones of the toes": "HP:0100235", + "Proximal foot symphalangism": "HP:0100237", + "Synostosis involving bones of the upper limbs": "HP:0100238", + "Fusion involving bones of the upper limbs": "HP:0100238", + "Synostosis of joints": "HP:0100240", + "Bony ankylosis": "HP:0100240", + "Fusion of joints": "HP:0100240", + "Ectopic respiratory mucosa": "HP:0100241", + "Sarcoma": "HP:0100242", + "Cancer of connective tissue": "HP:0100242", + "Malignant connective tissue tumor": "HP:0100242", + "Malignant connective tissue tumour": "HP:0100242", + "Leiomyosarcoma": "HP:0100243", + "Fibrosarcoma": "HP:0100244", + "Gastrointestinal desmoid tumor": "HP:0100245", + "Desmoid tumors": "HP:0100245", + "Desmoid tumours": "HP:0100245", + "Osteoma": "HP:0100246", + "Recurrent singultus": "HP:0100247", + "Recurrent hiccough": "HP:0100247", + "Recurrent hiccup": "HP:0100247", + "Recurrent synchronous diaphragmatic flutter": "HP:0100247", + "Hiccup": "HP:0100247", + "Hiccups": "HP:0100247", + "Hemiballismus": "HP:0100248", + "Ballismus": "HP:0100248", + "Calcification of muscles": "HP:0100249", + "Skeletal muscle calcinosis": "HP:0100249", + "Meningeal calcification": "HP:0100250", + "Multiple central nervous system lipomas": "HP:0100251", + "Lipomas of the central nervous system": "HP:0100251", + "Diaphyseal dysplasia": "HP:0100252", + "Abnormality of the medullary cavity of the long bones": "HP:0100253", + "Abnormality of the marrow cavity of the long bones": "HP:0100253", + "Stenosis of the medullary cavity of the long bones": "HP:0100254", + "Metaphyseal dysplasia": "HP:0100255", + "Senile plaques": "HP:0100256", + "Braindruse": "HP:0100256", + "Neuritic plaques": "HP:0100256", + "Senile druse": "HP:0100256", + "Ectrodactyly": "HP:0100257", + "Cleft hand": "HP:0100257", + "Lobster claw hand": "HP:0100257", + "Preaxial polydactyly": "HP:0100258", + "Polydactyly, preaxial": "HP:0100258", + "Postaxial polydactyly": "HP:0100259", + "Polydactyly, postaxial": "HP:0100259", + "Postaxial hexadactyly": "HP:0100259", + "Mesoaxial polydactyly": "HP:0100260", + "Central polydactyly": "HP:0100260", + "Intercalary polydactyly": "HP:0100260", + "Insertional polydactyly": "HP:0100260", + "Abnormal tendon morphology": "HP:0100261", + "Abnormal shape of tendon": "HP:0100261", + "Abnormality of the sinew": "HP:0100261", + "Synostosis involving digits": "HP:0100262", + "Fusion involving digits": "HP:0100262", + "Distal symphalangism": "HP:0100263", + "Symphalangism, distal": "HP:0100263", + "Proximal symphalangism": "HP:0100264", + "Cushing's symphalangism": "HP:0100264", + "Synostosis of metacarpals/metatarsals": "HP:0100265", + "Fusion of long bones of hand/long bones of foot": "HP:0100265", + "Synostosis of carpals/tarsals": "HP:0100266", + "Carpal and tarsal fusions": "HP:0100266", + "Coalescence of carpal and tarsal bones": "HP:0100266", + "Fusion of carpal and tarsal bones": "HP:0100266", + "Wrist bone/ankle bone fusions": "HP:0100266", + "Lip pit": "HP:0100267", + "Upper lip pit": "HP:0100268", + "Paramedian lip pit": "HP:0100269", + "Paramedian labial pits": "HP:0100269", + "Abnormality of dorsoventral patterning of the limbs": "HP:0100270", + "Hyponasal speech": "HP:0100271", + "Branchial sinus": "HP:0100272", + "Branchial cleft sinus": "HP:0100272", + "Neoplasm of the colon": "HP:0100273", + "Colon tumor": "HP:0100273", + "Colon tumour": "HP:0100273", + "Gustatory lacrimation": "HP:0100274", + "Diffuse cerebellar atrophy": "HP:0100275", + "Skin pit": "HP:0100276", + "Skin pits": "HP:0100276", + "Periauricular skin pits": "HP:0100277", + "Periauricular earpits": "HP:0100277", + "Periauricular fistulas": "HP:0100277", + "Periauricular pits": "HP:0100277", + "Periauricular sinus": "HP:0100277", + "Pits around the ear": "HP:0100277", + "Ulcerative colitis": "HP:0100279", + "Colitis ulcerosa": "HP:0100279", + "Crohn's disease": "HP:0100280", + "Granulomatous enteritis and colitis": "HP:0100280", + "Morbus Crohn": "HP:0100280", + "Chronic colitis": "HP:0100281", + "Acute colitis": "HP:0100282", + "EMG: continuous motor unit activity at rest": "HP:0100283", + "EMG: myotonic discharges": "HP:0100284", + "EMG: impaired neuromuscular transmission": "HP:0100285", + "EMG: slow motor conduction": "HP:0100287", + "EMG: myokymic discharges": "HP:0100288", + "Abnormality of pattern reversal visual evoked potentials": "HP:0100289", + "Abnormality of pattern reversal VEP": "HP:0100289", + "Abnormality of peripheral somatosensory evoked potentials": "HP:0100290", + "Delayed somatosensory central conduction time": "HP:0100291", + "Amyloidosis of peripheral nerves": "HP:0100292", + "Hypertrophied muscle fibers": "HP:0100293", + "Muscle fiber hypertrophy": "HP:0100293", + "Muscle fibre hypertrophy": "HP:0100293", + "Muscle fiber atrophy": "HP:0100295", + "Muscle fiber degeneration": "HP:0100295", + "Muscle fibre degeneration": "HP:0100295", + "Perifascicular muscle fiber atrophy": "HP:0100296", + "Perifascicular muscle fibre atrophy": "HP:0100296", + "Increased endomysial connective tissue": "HP:0100297", + "Endomysial fibrosis": "HP:0100297", + "Motheaten muscle fibers": "HP:0100298", + "Motheaten muscle fibres": "HP:0100298", + "Muscle fiber inclusion bodies": "HP:0100299", + "Muscle fibre inclusion bodies": "HP:0100299", + "Desmin bodies": "HP:0100300", + "Muscle fiber tubular inclusions": "HP:0100301", + "Muscle fiber tubular aggregates": "HP:0100301", + "Muscle fibre tubular aggregates": "HP:0100301", + "Muscle fibre tubular inclusions": "HP:0100301", + "Muscle fiber tubuloreticular inclusions": "HP:0100302", + "Muscle fiber tubuloreticular aggregates": "HP:0100302", + "Muscle fibre tubuloreticular aggregates": "HP:0100302", + "Muscle fibre tubuloreticular inclusions": "HP:0100302", + "Muscle fiber cytoplasmatic inclusion bodies": "HP:0100303", + "Muscle fiber cytoplasmic bodies": "HP:0100303", + "Muscle fibre cytoplasmatic inclusion bodies": "HP:0100303", + "Muscle fibre cytoplasmic bodies": "HP:0100303", + "Muscle fiber intranuclear inclusion bodies": "HP:0100304", + "Muscle fibre intranuclear inclusion bodies": "HP:0100304", + "Ring fibers": "HP:0100305", + "Ring fibres": "HP:0100305", + "Muscle fiber hyaline bodies": "HP:0100306", + "Muscle fibre hyaline bodies": "HP:0100306", + "Cerebellar hemisphere hypoplasia": "HP:0100307", + "Cerebral cortical hemiatrophy": "HP:0100308", + "Subdural hemorrhage": "HP:0100309", + "Subdural haematoma": "HP:0100309", + "Subdural haemorrhage": "HP:0100309", + "Subdural hematoma": "HP:0100309", + "Epidural hemorrhage": "HP:0100310", + "Epidural haematoma": "HP:0100310", + "Epidural haemorrhage": "HP:0100310", + "Epidural hematoma": "HP:0100310", + "Extradural haematoma": "HP:0100310", + "Extradural hematoma": "HP:0100310", + "Cerebral ventricular adhesions": "HP:0100311", + "Cerebral germinoma": "HP:0100312", + "Cerebral granulomatosis": "HP:0100313", + "Cerebral inclusion bodies": "HP:0100314", + "Lewy bodies": "HP:0100315", + "Lewy body disease": "HP:0100315", + "Hirano bodies": "HP:0100316", + "Argyrophilic inclusion bodies": "HP:0100317", + "Agyrophilic inclusion bodies": "HP:0100317", + "Pick inclusion bodies": "HP:0100317", + "Lafora bodies": "HP:0100318", + "Cerebral hyaline bodies": "HP:0100319", + "Cerebral colloid bodies": "HP:0100319", + "Rosenthal fibers": "HP:0100320", + "Rosenthal fibres": "HP:0100320", + "Abnormal dentate nucleus morphology": "HP:0100321", + "Abnormality of the dentate nucleus": "HP:0100321", + "Aplasia of the pyramidal tract": "HP:0100322", + "Absent pyramidal tract": "HP:0100322", + "Juvenile aseptic necrosis": "HP:0100323", + "Aseptic epiphyseal necrosis": "HP:0100323", + "Scleroderma": "HP:0100324", + "Progressive systemic scleroderma": "HP:0100324", + "Pseudoscleroderma": "HP:0100324", + "Immunologic hypersensitivity": "HP:0100326", + "Cow milk allergy": "HP:0100327", + "IgE-mediated cow milk allergy": "HP:0100327", + "Immunoglobulin E-mediated cow milk allergy": "HP:0100327", + "Milk allergy": "HP:0100327", + "Carpometacarpal synostosis": "HP:0100328", + "Fused wrist bones and long bones of hand": "HP:0100328", + "Tarsometatarsal synostosis": "HP:0100329", + "Fused bones of the midfoot": "HP:0100329", + "Unilateral cleft lip": "HP:0100333", + "One sided cleft upper lip": "HP:0100333", + "Unilateral cheiloschisis": "HP:0100333", + "Unilateral cleft upper lip": "HP:0100333", + "Unilateral cleft palate": "HP:0100334", + "One sided cleft palate": "HP:0100334", + "Unilateral palatoschisis": "HP:0100334", + "Non-midline cleft of the upper lip": "HP:0100335", + "Paramedian cleft of the upper lip": "HP:0100335", + "Bilateral cleft lip": "HP:0100336", + "Bilateral cheiloschisis": "HP:0100336", + "Both sided cleft lip": "HP:0100336", + "Right and left cleft lip": "HP:0100336", + "Bilateral cleft palate": "HP:0100337", + "Bilateral palatoschisis": "HP:0100337", + "Right and left cleft palate": "HP:0100337", + "Non-midline cleft palate": "HP:0100338", + "Paramedian cleft palate": "HP:0100338", + "Abnormality of the os naviculare pedis": "HP:0100339", + "Fibular deviation of the 4th toe": "HP:0100340", + "Tibial deviation of the 4th toe": "HP:0100341", + "Fibular deviation of the 3rd toe": "HP:0100342", + "Tibial deviation of the 3rd toe": "HP:0100343", + "Fibular deviation of the 2nd toe": "HP:0100344", + "Tibial deviation of the 2nd toe": "HP:0100345", + "Fibular deviation of the 5th toe": "HP:0100346", + "Tibial deviation of the 5th toe": "HP:0100347", + "Contracture of the proximal interphalangeal joint of the 2nd toe": "HP:0100348", + "Camptodactyly of the 2nd toe": "HP:0100348", + "Camptodactyly of the second toe": "HP:0100348", + "Contracture of the proximal interphalangeal joint of the 3rd toe": "HP:0100349", + "Camptodactyly of the 3rd toe": "HP:0100349", + "Contracture of the proximal interphalangeal joint of the 4th toe": "HP:0100350", + "Camptodactyly of the 4th toe": "HP:0100350", + "Camptodactyly of the fourth toe": "HP:0100350", + "Contracture of the innermost hinge joint of the 4th toe": "HP:0100350", + "Contractures of the proximal interphalangeal joint of the 5th toe": "HP:0100351", + "Camptodactyly of the 5th toe": "HP:0100351", + "Camptodactyly of the fifth toe": "HP:0100351", + "Contracture of the distal interphalangeal joint of the 2nd toe": "HP:0100352", + "Contracture of the distal interphalangeal joint of the second toe": "HP:0100352", + "Contracture of the distal interphalangeal joint of the 3rd toe": "HP:0100353", + "Contracture of the distal interphalangeal joint of the 4th toe": "HP:0100354", + "Contractures of the distal interphalangeal joint of the 5th toe": "HP:0100355", + "Contracture of the outermost hinge joint of the 5th toe": "HP:0100355", + "Contracture of the metatarsophalangeal joint of the 2nd toe": "HP:0100356", + "Contracture of the metatarsophalangeal joint of the 3rd toe": "HP:0100357", + "Contracture of the metatarsophalangeal joint of the 4th toe": "HP:0100358", + "Contracture of the metatarsophalangeal joint of the 5th toe": "HP:0100359", + "Upper-limb joint contracture": "HP:0100360", + "Contractures of the joints of the upper limbs": "HP:0100360", + "Aplasia of the phalanges of the 3rd toe": "HP:0100362", + "Absent digital bone of the 3rd toe": "HP:0100362", + "Aplasia of the phalanges of the 4th toe": "HP:0100363", + "Absent bones of the 4th toe": "HP:0100363", + "Aplasia of the phalanges of the 5th toe": "HP:0100364", + "Absent little toe bones": "HP:0100364", + "Absent pinkie toe bones": "HP:0100364", + "Absent pinky toe bones": "HP:0100364", + "Short phalanx of the 3rd toe": "HP:0100366", + "Hypoplastic/small phalanges of the 3rd toe": "HP:0100366", + "Short 3rd toe bone": "HP:0100366", + "Short phalanx of the third toe": "HP:0100366", + "Short phalanx of the 4th toe": "HP:0100367", + "Hypoplastic/small phalanges of the 4th toe": "HP:0100367", + "Short 4th toe bone": "HP:0100367", + "Short phalanx of the fourth toe": "HP:0100367", + "Short phalanx of the 5th toe": "HP:0100368", + "Hypoplastic/small phalanges of the 5th toe": "HP:0100368", + "Short little toe bone": "HP:0100368", + "Short phalanx of the fifth toe": "HP:0100368", + "Short pinkie toe bone": "HP:0100368", + "Short pinky toe bone": "HP:0100368", + "Aplasia/Hypoplasia of the distal phalanx of the 3rd toe": "HP:0100369", + "Absent/small outermost 3rd toe bone": "HP:0100369", + "Absent/underdeveloped outermost 3rd toe bone": "HP:0100369", + "Aplasia/Hypoplasia of the distal phalanx of the 4th toe": "HP:0100370", + "Absent/small outermost bone of 4th toe": "HP:0100370", + "Absent/underdeveloped outermost bone of 4th toe": "HP:0100370", + "Aplasia/Hypoplasia of the distal phalanx of the 5th toe": "HP:0100371", + "Absent/small outermost little toe bone": "HP:0100371", + "Absent/small outermost pinkie toe bone": "HP:0100371", + "Absent/small outermost pinky toe bone": "HP:0100371", + "Absent/underdeveloped outermost pinky toe bone": "HP:0100371", + "Aplasia/Hypoplasia of the middle phalanx of the 3rd toe": "HP:0100372", + "Absent/small middle 3rd toe bone": "HP:0100372", + "Absent/underdeveloped middle 3rd toe bone": "HP:0100372", + "Aplasia/Hypoplasia of the middle phalanx of the 4th toe": "HP:0100373", + "Absent/small middle bone of the 4th toe": "HP:0100373", + "Absent/underdeveloped middle bone of the 4th toe": "HP:0100373", + "Aplasia/Hypoplasia of the middle phalanx of the 5th toe": "HP:0100374", + "Absent/small middle 5th toe bone": "HP:0100374", + "Absent/underdeveloped middle bone of little toe": "HP:0100374", + "Absent/underdeveloped middle bone of pinkie toe": "HP:0100374", + "Absent/underdeveloped middle bone of pinky toe": "HP:0100374", + "Aplasia/hypoplasia of the proximal phalanx of the 3rd toe": "HP:0100375", + "Absent/small innermost bone of 3rd toe": "HP:0100375", + "Absent/underdeveloped innermost bone of 3rd toe": "HP:0100375", + "Aplasia/hypoplasia of the proximal phalanx of the 4th toe": "HP:0100376", + "Absent/small innermost 4th toe bone": "HP:0100376", + "Absent/underdeveloped innermost 4th toe bone": "HP:0100376", + "Aplasia/hypoplasia of the proximal phalanx of the 5th toe": "HP:0100377", + "Absent/small innermost little toe bone": "HP:0100377", + "Absent/small innermost pinkie toe bone": "HP:0100377", + "Absent/small innermost pinky toe bone": "HP:0100377", + "Absent/underdeveloped innermost 5th toe bone": "HP:0100377", + "Absent distal phalanx of the 3rd toe": "HP:0100378", + "Absent distal phalanx of the third toe": "HP:0100378", + "Absent outermost bone of the 3rd toe": "HP:0100378", + "Aplasia of the distal phalanx of the 3rd toe": "HP:0100378", + "Aplasia of the distal phalanx of the 4th toe": "HP:0100379", + "Absent distal phalanx of the 4th toe": "HP:0100379", + "Absent outermost bone of the 4th toe": "HP:0100379", + "Aplasia of the distal phalanx of the 5th toe": "HP:0100380", + "Absent outermost bone of the little toe": "HP:0100380", + "Absent outermost bone of the pinkie toe": "HP:0100380", + "Absent outermost bone of the pinky toe": "HP:0100380", + "Absent middle phalanx of the 3rd toe": "HP:0100381", + "Absent middle bone of the 3rd toe": "HP:0100381", + "Absent middle phalanx of the third toe": "HP:0100381", + "Aplasia of the middle phalanx of the 3rd toe": "HP:0100381", + "Aplasia of the middle phalanx of the 4th toe": "HP:0100382", + "Absent middle bone of 4th toe": "HP:0100382", + "Aplasia of the middle phalanx of the 5th toe": "HP:0100383", + "Absent middle bone of little toe": "HP:0100383", + "Absent middle bone of pinkie toe": "HP:0100383", + "Absent middle bone of pinky toe": "HP:0100383", + "Absent proximal phalanx of the 3rd toe": "HP:0100384", + "Absent innermost bone of the 3rd toe": "HP:0100384", + "Aplasia of the proximal phalanx of the 3rd toe": "HP:0100384", + "Aplasia of the proximal phalanx of the 4th toe": "HP:0100385", + "Absent innermost bone of the 4th toe": "HP:0100385", + "Aplasia of the proximal phalanx of the 5th toe": "HP:0100386", + "Absent innermost bone of the little toe": "HP:0100386", + "Absent innermost bone of the pinkie toe": "HP:0100386", + "Absent innermost bone of the pinky toe": "HP:0100386", + "Aplasia of the middle phalanges of the toes": "HP:0100387", + "Absent middle toe bones": "HP:0100387", + "Aplasia of the proximal phalanges of the toes": "HP:0100388", + "Absent innermost toe bones": "HP:0100388", + "Short distal phalanx of the 3rd toe": "HP:0100389", + "Hypoplastic/small distal phalanx of the 3rd toe": "HP:0100389", + "Short distal phalanx of the third toe": "HP:0100389", + "Short outermost bone of the 3rd toe": "HP:0100389", + "Short distal phalanx of the 4th toe": "HP:0100390", + "Hypoplastic/small distal phalanx of the 4th toe": "HP:0100390", + "Short distal phalanx of the fourth toe": "HP:0100390", + "Short outermost bone of the 4th toe": "HP:0100390", + "Short distal phalanx of the 5th toe": "HP:0100391", + "Hypoplastic/small distal phalanx of the 5th toe": "HP:0100391", + "Short distal phalanx of the fifth toe": "HP:0100391", + "Short outermost bone of the little toe": "HP:0100391", + "Short outermost bone of the pinkie toe": "HP:0100391", + "Short outermost bone of the pinky toe": "HP:0100391", + "Short middle phalanx of the 3rd toe": "HP:0100392", + "Hypoplastic/small middle phalanx of the 3rd toe": "HP:0100392", + "Short middle phalanx of the third toe": "HP:0100392", + "Short middle phalanx of the 4th toe": "HP:0100393", + "Hypoplastic/small middle phalanx of the 4th toe": "HP:0100393", + "Short middle bone of 4th toe": "HP:0100393", + "Short middle phalanx of the fourth toe": "HP:0100393", + "Short middle phalanx of the 5th toe": "HP:0100394", + "Hypoplastic/small middle phalanx of the 5th toe": "HP:0100394", + "Short middle bone of little toe": "HP:0100394", + "Short middle bone of pinkie toe": "HP:0100394", + "Short middle bone of pinky toe": "HP:0100394", + "Short middle phalanx of the fifth toe": "HP:0100394", + "Short proximal phalanx of the 3rd toe": "HP:0100395", + "Hypoplastic/small proximal phalanx of the 3rd toe": "HP:0100395", + "Short proximal phalanx of the third toe": "HP:0100395", + "Short proximal phalanx of the 4th toe": "HP:0100396", + "Hypoplastic/small proximal phalanx of the 4th toe": "HP:0100396", + "Short fourth toe proximal phalanx": "HP:0100396", + "Short proximal phalanx of the fourth toe": "HP:0100396", + "Short proximal phalanx of the 5th toe": "HP:0100397", + "Hypoplastic/small proximal phalanx of the 5th toe": "HP:0100397", + "Short innermost bone of little toe": "HP:0100397", + "Short innermost bone of pinkie toe": "HP:0100397", + "Short innermost bone of pinky toe": "HP:0100397", + "Short proximal phalanx of the fifth toe": "HP:0100397", + "Duplication of the distal phalanx of the 3rd toe": "HP:0100398", + "Duplication of the distal phalanx of the third toe": "HP:0100398", + "Duplication of the outermost bone of the 3rd toe": "HP:0100398", + "Partial/complete duplication of the distal phalanx of the 3rd toe": "HP:0100398", + "Duplication of the distal phalanx of the 4th toe": "HP:0100399", + "Duplication of the distal phalanx of the fourth toe": "HP:0100399", + "Duplication of the outermost bone of the 4th toe": "HP:0100399", + "Partial/complete duplication of the distal phalanx of the 4th toe": "HP:0100399", + "Duplication of the distal phalanx of the 5th toe": "HP:0100400", + "Duplication of the distal phalanx of the fifth toe": "HP:0100400", + "Duplication of the outermost bone of the fifth toe": "HP:0100400", + "Duplication of the outermost bone of the little toe": "HP:0100400", + "Duplication of the outermost bone of the pinkie toe": "HP:0100400", + "Duplication of the outermost bone of the pinky toe": "HP:0100400", + "Partial/complete duplication of the distal phalanx of the 5th toe": "HP:0100400", + "Duplication of the middle phalanx of the 3rd toe": "HP:0100401", + "Duplication of the middle bone of the 3rd toe": "HP:0100401", + "Duplication of the middle phalanx of the third toe": "HP:0100401", + "Partial/complete duplication of the middle phalanx of the 3rd toe": "HP:0100401", + "Duplication of the middle phalanx of the 4th toe": "HP:0100402", + "Duplication of the middle bone of the 4th toe": "HP:0100402", + "Duplication of the middle phalanx of the fourth toe": "HP:0100402", + "Partial/complete duplication of the middle phalanx of the 4th toe": "HP:0100402", + "Duplication of the middle phalanx of the 5th toe": "HP:0100403", + "Duplication of the middle bone of the little toe": "HP:0100403", + "Duplication of the middle bone of the pinkie toe": "HP:0100403", + "Duplication of the middle bone of the pinky toe": "HP:0100403", + "Duplication of the middle phalanx of the fifth toe": "HP:0100403", + "Partial/complete duplication of the middle phalanx of the 5th toe": "HP:0100403", + "Duplication of the proximal phalanx of the 3rd toe": "HP:0100404", + "Duplication of the innermost 3rd toe bone": "HP:0100404", + "Duplication of the proximal phalanx of the third toe": "HP:0100404", + "Partial/complete duplication of the proximal phalanx of the 3rd toe": "HP:0100404", + "Duplication of the proximal phalanx of the 4th toe": "HP:0100405", + "Duplication of the innermost 4th toe bone": "HP:0100405", + "Duplication of the proximal phalanx of the fourth toe": "HP:0100405", + "Partial/complete duplication of the proximal phalanx of the 4th toe": "HP:0100405", + "Duplication of the proximal phalanx of the 5th toe": "HP:0100406", + "Duplication of the innermost bone of the little toe": "HP:0100406", + "Duplication of the innermost bone of the pinkie toe": "HP:0100406", + "Duplication of the innermost bone of the pinky toe": "HP:0100406", + "Duplication of the proximal phalanx of the fifth toe": "HP:0100406", + "Partial/complete duplication of the proximal phalanx of the 5th toe": "HP:0100406", + "Complete duplication of the distal phalanx of the 3rd toe": "HP:0100407", + "Complete duplication of the distal phalanx of the third toe": "HP:0100407", + "Complete duplication of the outermost bone of the 3rd toe": "HP:0100407", + "Complete duplication of the distal phalanx of the 4th toe": "HP:0100408", + "Complete duplication of the distal phalanx of the fourth toe": "HP:0100408", + "Complete duplication of the outermost bone of the 4th toe": "HP:0100408", + "Complete duplication of the distal phalanx of the 5th toe": "HP:0100409", + "Complete duplication of the distal phalanx of the fifth toe": "HP:0100409", + "Complete duplication of the outermost bone of the little toe": "HP:0100409", + "Complete duplication of the outermost bone of the pinkie toe": "HP:0100409", + "Complete duplication of the outermost bone of the pinky toe": "HP:0100409", + "Complete duplication of the middle phalanx of the 3rd toe": "HP:0100410", + "Complete duplication of the middle bone of the 3rd toe": "HP:0100410", + "Complete duplication of the middle phalanx of the third toe": "HP:0100410", + "Complete duplication of the middle phalanx of the 4th toe": "HP:0100411", + "Complete duplication of the middle bone of the 4th toe": "HP:0100411", + "Complete duplication of the middle phalanx of the fourth toe": "HP:0100411", + "Complete duplication of the middle phalanx of the 5th toe": "HP:0100412", + "Complete duplication of the middle bone of the little toe": "HP:0100412", + "Complete duplication of the middle bone of the pinkie toe": "HP:0100412", + "Complete duplication of the middle bone of the pinky toe": "HP:0100412", + "Complete duplication of the middle phalanx of the fifth toe": "HP:0100412", + "Complete duplication of the proximal phalanx of the 3rd toe": "HP:0100413", + "Complete duplication of the innermost 3rd toe bone": "HP:0100413", + "Complete duplication of the proximal phalanx of the 4th toe": "HP:0100414", + "Complete duplication of the innermost 4th toe bone": "HP:0100414", + "Complete duplication of the proximal phalanx of the 5th toe": "HP:0100415", + "Complete duplication of the innermost bone of the little toe": "HP:0100415", + "Complete duplication of the innermost bone of the pinkie toe": "HP:0100415", + "Complete duplication of the innermost bone of the pinky toe": "HP:0100415", + "Complete duplication of the proximal phalanx of the fifth toe": "HP:0100415", + "Partial duplication of the distal phalanx of the 3rd toe": "HP:0100416", + "Partial duplication of the distal phalanx of the third toe": "HP:0100416", + "Partial duplication of the outermost bone of the 3rd toe": "HP:0100416", + "Partial duplication of the distal phalanx of the 4th toe": "HP:0100417", + "Partial duplication of the distal phalanx of the fourth toe": "HP:0100417", + "Partial duplication of the outermost bone of the fourth toe": "HP:0100417", + "Partial duplication of the distal phalanx of the 5th toe": "HP:0100418", + "Partial duplication of the distal phalanx of the fifth toe": "HP:0100418", + "Partial duplication of the outermost bone of the fifth toe": "HP:0100418", + "Partial duplication of the outermost bone of the little toe": "HP:0100418", + "Partial duplication of the outermost bone of the pinkie toe": "HP:0100418", + "Partial duplication of the outermost bone of the pinky toe": "HP:0100418", + "Partial duplication of the middle phalanx of the 3rd toe": "HP:0100419", + "Partial duplication of the middle bone of 3rd toe": "HP:0100419", + "Partial duplication of the middle phalanx of the third toe": "HP:0100419", + "Partial duplication of the middle phalanx of the 4th toe": "HP:0100420", + "Partial duplication of the middle bone of the 4th toe": "HP:0100420", + "Partial duplication of the middle phalanx of the fourth toe": "HP:0100420", + "Partial duplication of the middle phalanx of the 5th toe": "HP:0100421", + "Partial duplication of the middle bone of the little toe": "HP:0100421", + "Partial duplication of the middle bone of the pinkie toe": "HP:0100421", + "Partial duplication of the middle bone of the pinky toe": "HP:0100421", + "Partial duplication of the middle phalanx of the fifth toe": "HP:0100421", + "Partial duplication of the proximal phalanx of the 3rd toe": "HP:0100422", + "Partial duplication of the innermost bone of 3rd toe": "HP:0100422", + "Partial duplication of the proximal phalanx of the third toe": "HP:0100422", + "Partial duplication of the proximal phalanx of the 4th toe": "HP:0100423", + "Partial duplication of the innermost bone of 4th toe": "HP:0100423", + "Partial duplication of the proximal phalanx of the 5th toe": "HP:0100424", + "Partial duplication of the innermost bone of the little toe": "HP:0100424", + "Partial duplication of the innermost bone of the pinkie toe": "HP:0100424", + "Partial duplication of the innermost bone of the pinky toe": "HP:0100424", + "Partial duplication of the proximal phalanx of the fifth toe": "HP:0100424", + "Broad middle phalanx of the 3rd toe": "HP:0100425", + "Broad middle 3rd toe bone": "HP:0100425", + "Broad middle phalanx of the 4th toe": "HP:0100426", + "Broad middle 4th toe bone": "HP:0100426", + "Broad middle phalanx of the 5th toe": "HP:0100427", + "Broad middle bone of the little toe": "HP:0100427", + "Broad middle bone of the pinkie toe": "HP:0100427", + "Broad middle bone of the pinky toe": "HP:0100427", + "Broad proximal phalanx of the 3rd toe": "HP:0100428", + "Wide innermost bone of 3rd toe": "HP:0100428", + "Broad proximal phalanx of the 4th toe": "HP:0100429", + "Wide innermost bone of 4th toe": "HP:0100429", + "Broad proximal phalanx of the 5th toe": "HP:0100430", + "Broad innermost bone of the little toe": "HP:0100430", + "Broad innermost bone of the pinkie toe": "HP:0100430", + "Broad innermost bone of the pinky toe": "HP:0100430", + "Broad distal phalanx of the 3rd toe": "HP:0100431", + "Broad outermost bone of the 3rd toe": "HP:0100431", + "Wide outermost bone of the 3rd toe": "HP:0100431", + "Broad distal phalanx of the 4th toe": "HP:0100432", + "Broad outermost bone of the 4th toe": "HP:0100432", + "Wide outermost bone of the 4th toe": "HP:0100432", + "Broad distal phalanx of the 5th toe": "HP:0100433", + "Broad outermost bone of the 5th toe": "HP:0100433", + "Wide outermost bone of the little toe": "HP:0100433", + "Wide outermost bone of the pinkie toe": "HP:0100433", + "Wide outermost bone of the pinky toe": "HP:0100433", + "Bullet-shaped middle phalanx of the 3rd toe": "HP:0100434", + "Bullet-shaped middle bone of the 3rd toe": "HP:0100434", + "Bullet-shaped middle phalanx of the 4th toe": "HP:0100435", + "Bullet-shaped middle bone of the 4th toe": "HP:0100435", + "Bullet-shaped middle phalanx of the 5th toe": "HP:0100436", + "Bullet-shaped middle bone of the little toe": "HP:0100436", + "Bullet-shaped middle bone of the pinkie toe": "HP:0100436", + "Bullet-shaped middle bone of the pinky toe": "HP:0100436", + "Bullet-shaped proximal phalanx of the 3rd toe": "HP:0100437", + "Bullet-shaped proximal bone of the 3rd toe": "HP:0100437", + "Bullet-shaped proximal phalanx of the 4th toe": "HP:0100438", + "Bullet-shaped proximal bone of the 4th toe": "HP:0100438", + "Bullet-shaped proximal phalanx of the 5th toe": "HP:0100439", + "Bullet-shaped innermost bone of little toe": "HP:0100439", + "Bullet-shaped innermost bone of pinkie toe": "HP:0100439", + "Bullet-shaped innermost bone of pinky toe": "HP:0100439", + "Bullet-shaped distal phalanx of the 3rd toe": "HP:0100440", + "Bullet-shaped outermost bone of the 3rd toe": "HP:0100440", + "Bullet-shaped distal phalanx of the 4th toe": "HP:0100441", + "Bullet-shaped outermost bone of the 4th toe": "HP:0100441", + "Bullet-shaped distal phalanx of the 5th toe": "HP:0100442", + "Bullet-shaped outermost bone of the little toe": "HP:0100442", + "Bullet-shaped outermost bone of the pinkie toe": "HP:0100442", + "Bullet-shaped outermost bone of the pinky toe": "HP:0100442", + "Curved middle phalanx of the 3rd toe": "HP:0100443", + "Curved middle bone of 3rd toe": "HP:0100443", + "Curved middle phalanx of the 4th toe": "HP:0100444", + "Curved middle bone of 4th toe": "HP:0100444", + "Curved middle phalanx of the 5th toe": "HP:0100445", + "Curved middle bone of little toe": "HP:0100445", + "Curved middle bone of pinkie toe": "HP:0100445", + "Curved middle bone of pinky toe": "HP:0100445", + "Curved proximal phalanx of the 3rd toe": "HP:0100446", + "Curved innermost bone of 3rd toe": "HP:0100446", + "Curved proximal phalanx of the 4th toe": "HP:0100447", + "Curved innermost bone of the 4th toe": "HP:0100447", + "Curved proximal phalanx of the 5th toe": "HP:0100448", + "Curved innermost little toe bone": "HP:0100448", + "Curved innermost pinkie toe bone": "HP:0100448", + "Curved innermost pinky toe bone": "HP:0100448", + "Curved distal phalanx of the 3rd toe": "HP:0100449", + "Curved outermost bone of the 3rd toe": "HP:0100449", + "Curved distal phalanx of the 4th toe": "HP:0100450", + "Curved outermost bone of the 4th toe": "HP:0100450", + "Curved distal phalanx of the 5th toe": "HP:0100451", + "Curved outermost bone of the little toe": "HP:0100451", + "Curved outermost bone of the pinkie toe": "HP:0100451", + "Curved outermost bone of the pinky toe": "HP:0100451", + "Osteolytic defects of the middle phalanx of the 3rd toe": "HP:0100452", + "Osteolytic defects of the middle phalanx of the 4th toe": "HP:0100453", + "Osteolytic defects of the middle phalanx of the 5th toe": "HP:0100454", + "Osteolytic defects of the proximal phalanx of the 3rd toe": "HP:0100455", + "Osteolytic defects of the proximal phalanx of the 4th toe": "HP:0100456", + "Osteolytic defects of the proximal phalanx of the 5th toe": "HP:0100457", + "Osteolytic defects of the distal phalanx of the 3rd toe": "HP:0100458", + "Osteolytic defects of the outermost bone of the 3rd toe": "HP:0100458", + "Osteolytic defects of the distal phalanx of the 4th toe": "HP:0100459", + "Osteolytic defects of the outermost bone of the 4th toe": "HP:0100459", + "Osteolytic defects of the distal phalanx of the 5th toe": "HP:0100460", + "Osteolytic defects of the outermost bone of the 5th toe": "HP:0100460", + "Patchy sclerosis of the middle phalanx of the 3rd toe": "HP:0100461", + "Uneven increase in bone density in the middle bone of the 3rd toe": "HP:0100461", + "Patchy sclerosis of the middle phalanx of the 4th toe": "HP:0100462", + "Uneven increase in bone density in middle bone of the 4th toe": "HP:0100462", + "Patchy sclerosis of the middle phalanx of the 5th toe": "HP:0100463", + "Uneven increase in bone density in the middle bone of the little toe": "HP:0100463", + "Uneven increase in bone density in the middle bone of the pinkie toe": "HP:0100463", + "Uneven increase in bone density in the middle bone of the pinky toe": "HP:0100463", + "Patchy sclerosis of the proximal phalanx of the 3rd toe": "HP:0100464", + "Uneven increase in bone density in the innermost bone of the 3rd toe": "HP:0100464", + "Patchy sclerosis of the proximal phalanx of the 4th toe": "HP:0100465", + "Uneven increase in bone density in the innermost bone of the 4th toe": "HP:0100465", + "Patchy sclerosis of the proximal phalanx of the 5th toe": "HP:0100466", + "Uneven increase in bone density in the innermost bone of the little toe": "HP:0100466", + "Uneven increase in bone density in the innermost bone of the pinkie toe": "HP:0100466", + "Uneven increase in bone density in the innermost bone of the pinky toe": "HP:0100466", + "Patchy sclerosis of the distal phalanx of the 3rd toe": "HP:0100467", + "Uneven increase in bone density in the outermost bone of the 3rd toe": "HP:0100467", + "Patchy sclerosis of the distal phalanx of the 4th toe": "HP:0100468", + "Uneven increase in bone density in the outermost bone of the 4th toe": "HP:0100468", + "Patchy sclerosis of the distal phalanx of the 5th toe": "HP:0100469", + "Uneven increase in bone density in the outermost little toe bone": "HP:0100469", + "Uneven increase in bone density in the outermost pinkie toe bone": "HP:0100469", + "Uneven increase in bone density in the outermost pinky toe bone": "HP:0100469", + "Symphalangism affecting the middle phalanx of the 3rd toe": "HP:0100470", + "Fused middle bones of 3rd toe": "HP:0100470", + "Symphalangism affecting the middle phalanx of the 4th toe": "HP:0100471", + "Fused middle bones of 4th toe": "HP:0100471", + "Symphalangism affecting the middle phalanx of the 5th toe": "HP:0100472", + "Fused middle bones of 5th toe": "HP:0100472", + "Symphalangism affecting the proximal phalanx of the 3rd toe": "HP:0100473", + "Fused innermost bone of 3rd toe": "HP:0100473", + "Symphalangism affecting the proximal phalanx of the 4th toe": "HP:0100474", + "Fused innermost bones of 4th toe": "HP:0100474", + "Symphalangism affecting the proximal phalanx of the 5th toe": "HP:0100475", + "Fused innermost bone of little toe": "HP:0100475", + "Fused innermost bone of pinkie toe": "HP:0100475", + "Fused innermost bone of pinky toe": "HP:0100475", + "Symphalangism affecting the distal phalanx of the 3rd toe": "HP:0100476", + "Fused outermost bone of 3rd toe": "HP:0100476", + "Symphalangism affecting the distal phalanx of the 4th toe": "HP:0100477", + "Fused outermost bone of the 4th toe": "HP:0100477", + "Symphalangism affecting the distal phalanx of the 5th toe": "HP:0100478", + "Fused outermost bones of the little toe": "HP:0100478", + "Fused outermost bones of the pinkie toe": "HP:0100478", + "Fused outermost bones of the pinky toe": "HP:0100478", + "Proximal/middle symphalangism of 3rd toe": "HP:0100480", + "Fused innermost and middle bones of 3rd toe": "HP:0100480", + "Symphalangism of the middle and proximal phalanges of the 3rd toe": "HP:0100480", + "Proximal/middle symphalangism of 4th toe": "HP:0100481", + "Fused innermost and middle bones of 4th toe": "HP:0100481", + "Symphalangism of the middle and proximal phalanges of the 4th toe": "HP:0100481", + "Proximal/middle symphalangism of 5th toe": "HP:0100482", + "Fused innermost and middle little toe bones": "HP:0100482", + "Fused innermost and middle pinkie toe bones": "HP:0100482", + "Fused innermost and middle pinky toe bones": "HP:0100482", + "Symphalangism of the middle and proximal phalanges of the 5th toe": "HP:0100482", + "Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal": "HP:0100483", + "Fused innermost bone of 2nd toe with the 2nd long bone of foot": "HP:0100483", + "Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal": "HP:0100484", + "Fused innermost bones of third toe with 3rd long bone of foot": "HP:0100484", + "Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal": "HP:0100485", + "Fused innermost bone of the 4th toe with 4th long bone of foot": "HP:0100485", + "Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal": "HP:0100486", + "Fused innermost pinky toe bone with the 5th long bone of foot": "HP:0100486", + "Triangular shaped distal phalanx of the 5th toe": "HP:0100487", + "Triangular shaped outermost bone of the little toe": "HP:0100487", + "Triangular shaped outermost bone of the pinkie toe": "HP:0100487", + "Triangular shaped outermost bone of the pinky toe": "HP:0100487", + "Synostosis of the proximal phalanx of the hallux with the 1st metatarsal": "HP:0100488", + "Fusion of the innermost big toe bone with the 1st long bone of foot": "HP:0100488", + "Proximal/middle symphalangism of 2nd toe": "HP:0100489", + "Fused middle and innermost bones of 2nd toe": "HP:0100489", + "Symphalangism of the middle and proximal phalanges of the 2nd toe": "HP:0100489", + "Camptodactyly of finger": "HP:0100490", + "Camptodactyly of hands": "HP:0100490", + "Camptodactyly of proximal interphalangeal joint": "HP:0100490", + "Contractures of the proximal interphalangeal joints of the fingers": "HP:0100490", + "Flexion contractures of proximal interphalangeal joints": "HP:0100490", + "Permanent flexion of the finger": "HP:0100490", + "Proximal interphalangeal finger joint contractures": "HP:0100490", + "Abnormality of lower limb joint": "HP:0100491", + "Abnormality of the joints of the lower limbs": "HP:0100491", + "obsolete Joint contractures involving the joints of the feet": "HP:0100492", + "Hypoammonemia": "HP:0100493", + "Abnormal mast cell morphology": "HP:0100494", + "Abnormality of mast cells": "HP:0100494", + "Abnormality of mastocytes": "HP:0100494", + "Mastocytosis": "HP:0100495", + "Abnormality of the vitamin B3 metabolism": "HP:0100496", + "Vitamin B3 deficiency": "HP:0100497", + "Deviation of toes": "HP:0100498", + "Tibial deviation of toes": "HP:0100499", + "Medial deviation of toes": "HP:0100499", + "Fibular deviation of toes": "HP:0100500", + "Lateral deviation of toes": "HP:0100500", + "Recurrent bronchiolitis": "HP:0100501", + "Decreased circulating vitamin B12 concentration": "HP:0100502", + "Vitamin B12 deficiency": "HP:0100502", + "Decreased circulating vitamin B1 concentration": "HP:0100503", + "Low levels of vitamin B1": "HP:0100503", + "Reduced blood thiamine level": "HP:0100503", + "Vitamin B1 deficiency": "HP:0100503", + "Decreased circulating vitamin B2 concentration": "HP:0100504", + "Low levels of vitamin B2": "HP:0100504", + "Riboflavin deficiency": "HP:0100504", + "Vitamin B2 deficiency": "HP:0100504", + "Decreased circulating vitamin B5 concentration": "HP:0100505", + "Low levels of vitamin B5": "HP:0100505", + "Vitamin B5 deficiency": "HP:0100505", + "Decreased circulating vitamin B8 concentration": "HP:0100506", + "Low levels of vitamin B8": "HP:0100506", + "Vitamin B8 deficiency": "HP:0100506", + "Reduced blood folate concentration": "HP:0100507", + "Folate deficiency": "HP:0100507", + "Vitamin B9 deficiency": "HP:0100507", + "Abnormality of vitamin metabolism": "HP:0100508", + "Abnormality of vitamin C metabolism": "HP:0100509", + "Decreased circulating vitamin C concentration": "HP:0100510", + "Low levels of vitamin C": "HP:0100510", + "Vitamin C deficiency": "HP:0100510", + "Abnormality of vitamin D metabolism": "HP:0100511", + "Decreased circulating vitamin D concentration": "HP:0100512", + "Deficient in vitamin D": "HP:0100512", + "Low levels of vitamin D": "HP:0100512", + "Vitamin D deficiency": "HP:0100512", + "Decreased circulating vitamin E concentration": "HP:0100513", + "Alpha-tocopherol deficiency": "HP:0100513", + "Low levels of vitamin E": "HP:0100513", + "Vitamin E deficiency": "HP:0100513", + "Abnormal circulating vitamin E concentration": "HP:0100514", + "Pollakisuria": "HP:0100515", + "Constant urination": "HP:0100515", + "Frequent urination": "HP:0100515", + "Neoplasm of the ureter": "HP:0100516", + "Neoplasia of the ureters": "HP:0100516", + "ureter, cancer of": "HP:0100516", + "Neoplasm of the urethra": "HP:0100517", + "Neoplasia of the urethra": "HP:0100517", + "Dysuria": "HP:0100518", + "Painful or difficult urination": "HP:0100518", + "Dull burning sensation with urination": "HP:0100518", + "Anuria": "HP:0100519", + "Absent urine output": "HP:0100519", + "Oliguria": "HP:0100520", + "Neoplasm of the thymus": "HP:0100521", + "Thymoma": "HP:0100522", + "Liver abscess": "HP:0100523", + "Hepatic abscess": "HP:0100523", + "Limb duplication": "HP:0100524", + "Dimelia": "HP:0100524", + "Urachus fistula": "HP:0100525", + "Neoplasm of the lung": "HP:0100526", + "Lung cancer": "HP:0100526", + "Lung tumor": "HP:0100526", + "Lung tumour": "HP:0100526", + "Neoplasia of the pleura": "HP:0100527", + "Pleuropulmonary blastoma": "HP:0100528", + "Abnormal blood phosphate concentration": "HP:0100529", + "Abnormality of phosphate homeostasis": "HP:0100529", + "Abnormal circulating calcium-phosphate regulating hormone concentration": "HP:0100530", + "Abnormal Ca-PHOS regulating hormone level": "HP:0100530", + "Abnormal Ca2+ PO4 regulating hormone level": "HP:0100530", + "Wind-swept deformity of the knees": "HP:0100531", + "Scleritis": "HP:0100532", + "Inflammation of the outer white part of the eye": "HP:0100532", + "Inflammatory abnormality of the eye": "HP:0100533", + "Ocular inflammation": "HP:0100533", + "Episcleritis": "HP:0100534", + "Inflammation of the thin layer on top of the white part of eye": "HP:0100534", + "Tibiofibular diastasis": "HP:0100535", + "Abnormal fascia morphology": "HP:0100536", + "Abnormality of the fascia": "HP:0100536", + "Fasciitis": "HP:0100537", + "Inflammation of the fascia": "HP:0100537", + "Abnormality of the supraorbital ridges": "HP:0100538", + "Abnormality of the brow of the face": "HP:0100538", + "Deformity of the supraorbital margins": "HP:0100538", + "Deformity of the supraorbital ridges": "HP:0100538", + "Malformation of the supraorbital margins": "HP:0100538", + "Malformation of the supraorbital ridges": "HP:0100538", + "Periorbital edema": "HP:0100539", + "Periorbital cellulitis": "HP:0100539", + "Periorbital oedema": "HP:0100539", + "Palpebral edema": "HP:0100540", + "Edema of the eyelids": "HP:0100540", + "Eyelid edema": "HP:0100540", + "Eyelid oedema": "HP:0100540", + "Fullness of eyelids": "HP:0100540", + "Oedema of the eyelids": "HP:0100540", + "Palpebral oedema": "HP:0100540", + "Puffy eyelids": "HP:0100540", + "Puffy lids": "HP:0100540", + "Swelling of eyelids": "HP:0100540", + "Femoral hernia": "HP:0100541", + "Crural hernia": "HP:0100541", + "Abnormal localization of kidney": "HP:0100542", + "Abnormal localisation of kidneys": "HP:0100542", + "Cognitive impairment": "HP:0100543", + "Abnormality of cognition": "HP:0100543", + "Cognitive abnormality": "HP:0100543", + "Cognitive defects": "HP:0100543", + "Cognitive deficits": "HP:0100543", + "Intellectual impairment": "HP:0100543", + "Neoplasm of the heart": "HP:0100544", + "Cardiac neoplasm": "HP:0100544", + "Heart tumor": "HP:0100544", + "Heart tumour": "HP:0100544", + "Cardiac neoplasia": "HP:0100544", + "Arterial stenosis": "HP:0100545", + "Narrowing of an artery": "HP:0100545", + "Carotid artery stenosis": "HP:0100546", + "Carotid stenosis": "HP:0100546", + "Narrowing of carotid artery": "HP:0100546", + "Abnormal forebrain morphology": "HP:0100547", + "Abnormal shape of forebrain": "HP:0100547", + "Abnormality of forebrain morphology": "HP:0100547", + "Abnormality of the forebrain": "HP:0100547", + "Exstrophy": "HP:0100548", + "Tendon rupture": "HP:0100550", + "Rupture of tendons": "HP:0100550", + "Ruptured tendon": "HP:0100550", + "Tendon/muscle rupture": "HP:0100550", + "Neoplasm of the trachea": "HP:0100551", + "Tracheal neoplasm": "HP:0100551", + "Neoplasm of the tracheobronchial system": "HP:0100552", + "Hemihypertrophy of lower limb": "HP:0100553", + "Overgrowth of one leg": "HP:0100553", + "Hemihypertrophy of upper limb": "HP:0100554", + "Overgrowth of one arm": "HP:0100554", + "Asymmetric growth": "HP:0100555", + "Uneven or disproportionate growth of one body part compared to another": "HP:0100555", + "Hemiatrophy": "HP:0100556", + "Asymmetric limb shortening": "HP:0100556", + "Hemiatrophy of the body": "HP:0100556", + "Hemiatrophy of lower limb": "HP:0100557", + "Asymmetric lower limb shortening": "HP:0100557", + "Hemiatrophy of upper limb": "HP:0100558", + "Asymmetric upper limb shortening": "HP:0100558", + "Hemihypotrophy of upper limb": "HP:0100558", + "Lower limb asymmetry": "HP:0100559", + "Left and right leg differ in length or width": "HP:0100559", + "Leg length discrepancy": "HP:0100559", + "Upper limb asymmetry": "HP:0100560", + "Unequal size of arms": "HP:0100560", + "Spinal cord lesion": "HP:0100561", + "Diplomyelia": "HP:0100562", + "Duplication of spinal cord": "HP:0100562", + "Diastomatomyelia": "HP:0100563", + "Triplomyelia": "HP:0100564", + "Triplication of spinal cord": "HP:0100564", + "Hydromyelia": "HP:0100565", + "Amyelia": "HP:0100566", + "Absent spinal cord": "HP:0100566", + "Neoplasm of the endocrine system": "HP:0100568", + "Endocrine neoplasia": "HP:0100568", + "Abnormally ossified vertebrae": "HP:0100569", + "Abnormal bone maturation of vertebra": "HP:0100569", + "Abnormal vertebral ossification": "HP:0100569", + "Abnormality of ossification/mineralisation of vertebrae": "HP:0100569", + "Carcinoid tumor": "HP:0100570", + "Carcinoid": "HP:0100570", + "Carcinoid tumour": "HP:0100570", + "Carcinoid tumors": "HP:0100570", + "Carcinoid tumours": "HP:0100570", + "Cardiac diverticulum": "HP:0100571", + "Ventricular diverticulum": "HP:0100571", + "Fibrous cardiac diverticulum": "HP:0100572", + "Congenital ventricular aneurysm": "HP:0100572", + "Muscular cardiac diverticulum": "HP:0100573", + "Biliary tract neoplasm": "HP:0100574", + "Neoplasia of the biliary tract": "HP:0100574", + "Neoplasm of the gallbladder": "HP:0100575", + "Neoplasia of the gallbladder": "HP:0100575", + "Amaurosis fugax": "HP:0100576", + "Urinary bladder inflammation": "HP:0100577", + "Cystitis of the urinary bladder": "HP:0100577", + "Lipoatrophy": "HP:0100578", + "Atrophy of fat": "HP:0100578", + "Loss of fat tissue in localised area": "HP:0100578", + "Loss of fat tissue in localized area": "HP:0100578", + "Mucosal telangiectasiae": "HP:0100579", + "Barrett esophagus": "HP:0100580", + "Barret syndrome": "HP:0100580", + "Barrett oesophagus": "HP:0100580", + "Barrett's esophagus": "HP:0100580", + "Barrett's oesophagus": "HP:0100580", + "Endobrachyesophagus": "HP:0100580", + "Dilatation of renal calices": "HP:0100581", + "Caliceal dilatation": "HP:0100581", + "Caliectasis": "HP:0100581", + "Megacalicosis": "HP:0100581", + "Nasal polyposis": "HP:0100582", + "Nasal polyps": "HP:0100582", + "Polyposis nasi": "HP:0100582", + "Polyps of nose": "HP:0100582", + "Corneal perforation": "HP:0100583", + "Iridocele": "HP:0100583", + "Endocarditis": "HP:0100584", + "Telangiectasia of the skin": "HP:0100585", + "Teleangiectasia of the skin": "HP:0100585", + "Sterile pyuria": "HP:0100586", + "Aseptic leukocyturia": "HP:0100586", + "Abnormal preputium morphology": "HP:0100587", + "Abnormality of the preputium": "HP:0100587", + "Paraphimosis": "HP:0100588", + "Urogenital fistula": "HP:0100589", + "Rectal fistula": "HP:0100590", + "Peritoneal abscess": "HP:0100592", + "Calcification of cartilage": "HP:0100593", + "Esophageal web": "HP:0100594", + "Camptocormia": "HP:0100595", + "Absent nares": "HP:0100596", + "Abouphalia": "HP:0100596", + "Aplasia of the nares": "HP:0100596", + "Missing nostrils": "HP:0100596", + "Aplasia/Hypoplasia of the nares": "HP:0100596", + "Pulmonary edema": "HP:0100598", + "Excess fluid in lungs": "HP:0100598", + "Lung edema": "HP:0100598", + "Lung oedema": "HP:0100598", + "Wet lung": "HP:0100598", + "Bifid penis": "HP:0100599", + "Diphallia": "HP:0100599", + "Penile duplication": "HP:0100599", + "Penoscrotal transposition": "HP:0100600", + "Prepenile scrotum": "HP:0100600", + "Eclampsia": "HP:0100601", + "Preeclampsia": "HP:0100602", + "Pre-eclampsia": "HP:0100602", + "Toxemia of pregnancy": "HP:0100603", + "Hypertensive disorder of pregnancy": "HP:0100603", + "Toxaemia of pregnancy": "HP:0100603", + "Neoplasm of the lip": "HP:0100604", + "Lip tumor": "HP:0100604", + "Lip tumour": "HP:0100604", + "Neoplasia of the lip": "HP:0100604", + "Tumor of the lip": "HP:0100604", + "Tumour of the lip": "HP:0100604", + "Neoplasm of the larynx": "HP:0100605", + "Neoplasm of the respiratory system": "HP:0100606", + "Respiratory system tumor": "HP:0100606", + "Respiratory system tumour": "HP:0100606", + "Dysmenorrhea": "HP:0100607", + "Painful menstruation": "HP:0100607", + "Metrorrhagia": "HP:0100608", + "Abnormal uterus bleeding": "HP:0100608", + "Intermenstrual bleeding": "HP:0100608", + "Menstrual spotting": "HP:0100608", + "obsolete Hypermenorrhea": "HP:0100609", + "Maternal hyperphenylalaninemia": "HP:0100610", + "High blood phenylalanine level in mother": "HP:0100610", + "Multiple glomerular cysts": "HP:0100611", + "Glomerulocystic kidney disease": "HP:0100611", + "Odontogenic neoplasm": "HP:0100612", + "Odontogenic tumor": "HP:0100612", + "Odontogenic tumour": "HP:0100612", + "Death in early adulthood": "HP:0100613", + "Myositis": "HP:0100614", + "Muscle inflammation": "HP:0100614", + "Ovarian neoplasm": "HP:0100615", + "Ovarian cancer": "HP:0100615", + "Neoplasm of the ovaries": "HP:0100615", + "Neoplasm of the ovary": "HP:0100615", + "Ovarian tumor": "HP:0100615", + "Ovarian tumour": "HP:0100615", + "Ovarian neoplasia": "HP:0100615", + "Testicular teratoma": "HP:0100616", + "Testicular seminoma": "HP:0100617", + "Leydig cell neoplasia": "HP:0100618", + "Sertoli cell neoplasm": "HP:0100619", + "Sertoli cell neoplasia": "HP:0100619", + "Germinoma": "HP:0100620", + "Dysgerminoma": "HP:0100621", + "Maternal seizure": "HP:0100622", + "Maternal seizures": "HP:0100622", + "Abnormal corpus cavernosum morphology": "HP:0100623", + "Abnormality of corpus cavernosum": "HP:0100623", + "Corpus cavernosum sclerosis": "HP:0100624", + "Enlarged thorax": "HP:0100625", + "Wide rib cage": "HP:0100625", + "Wide thorax": "HP:0100625", + "Chronic hepatic failure": "HP:0100626", + "Chronic liver failure": "HP:0100626", + "Displacement of the urethral meatus": "HP:0100627", + "Displacement of the external urethral orifice": "HP:0100627", + "Displacement of the male external urethral orifice": "HP:0100627", + "Esophageal diverticulum": "HP:0100628", + "Esophageal pouch": "HP:0100628", + "Midline facial cleft": "HP:0100629", + "Neoplasia of the nasopharynx": "HP:0100630", + "Nasopharyngeal neoplasm": "HP:0100630", + "Neoplasm of the nasopharynx": "HP:0100630", + "Tumor of the nasopharynx": "HP:0100630", + "Tumour of the nasopharynx": "HP:0100630", + "Neoplasm of the adrenal gland": "HP:0100631", + "Adrenal neoplasia": "HP:0100631", + "Pulmonary sequestration": "HP:0100632", + "Bronchopulmonary sequestration": "HP:0100632", + "Cystic lung lesion": "HP:0100632", + "Esophagitis": "HP:0100633", + "Inflammation of the esophagus": "HP:0100633", + "Inflammation of the oesophagus": "HP:0100633", + "Oesophagitis": "HP:0100633", + "Neuroendocrine neoplasm": "HP:0100634", + "Neuroendocrine neoplasia": "HP:0100634", + "Carotid paraganglioma": "HP:0100635", + "Pulmonary paraglioma": "HP:0100636", + "obsolete Neoplasia of the nose": "HP:0100637", + "Neoplasm of the pharynx": "HP:0100638", + "Neoplasia of the pharynx": "HP:0100638", + "Pharyngeal neoplasm": "HP:0100638", + "Tumor of the pharynx": "HP:0100638", + "Tumour of the pharynx": "HP:0100638", + "Erectile dysfunction": "HP:0100639", + "Abnormal erection": "HP:0100639", + "Erectile abnormalities": "HP:0100639", + "Laryngeal cyst": "HP:0100640", + "Neoplasm of the adrenal cortex": "HP:0100641", + "Cortical adrenal neoplasia": "HP:0100641", + "Neoplasm of the adrenal medulla": "HP:0100642", + "Medullar adrenal neoplasia": "HP:0100642", + "Abnormality of nail color": "HP:0100643", + "Nail dyschromia": "HP:0100643", + "Melanonychia": "HP:0100644", + "Cystocele": "HP:0100645", + "Bladder hernia": "HP:0100645", + "Bladder prolapse": "HP:0100645", + "Dropped bladder": "HP:0100645", + "Prolapsed bladder": "HP:0100645", + "Thyroiditis": "HP:0100646", + "Thyroid gland inflammation": "HP:0100646", + "Graves disease": "HP:0100647", + "Morbus Basedow": "HP:0100647", + "Neoplasm of the tongue": "HP:0100648", + "Neoplasm of the oral cavity": "HP:0100649", + "Lesion of oral cavity": "HP:0100649", + "Mouth neoplasm": "HP:0100649", + "Mouth tumor": "HP:0100649", + "Mouth tumour": "HP:0100649", + "Neoplasm of the mouth": "HP:0100649", + "Tumor of oral cavity": "HP:0100649", + "Tumour of oral cavity": "HP:0100649", + "Vaginal neoplasm": "HP:0100650", + "Vaginal tumor": "HP:0100650", + "Vaginal tumour": "HP:0100650", + "Vaginal neoplasia": "HP:0100650", + "Type I diabetes mellitus": "HP:0100651", + "Diabetes mellitus Type I": "HP:0100651", + "Juvenile diabetes mellitus": "HP:0100651", + "Type 1 diabetes": "HP:0100651", + "Type I diabetes": "HP:0100651", + "Insulin-dependent diabetes mellitus": "HP:0100651", + "Optic neuritis": "HP:0100653", + "Retrobulbar optic neuritis": "HP:0100654", + "Retrobulbar neuritis": "HP:0100654", + "Thoracoabdominal wall defect": "HP:0100656", + "Thoracoabdominal schisis": "HP:0100656", + "Thoracoabdominal eventration": "HP:0100657", + "Celosomia": "HP:0100657", + "Kelosomia": "HP:0100657", + "Cellulitis": "HP:0100658", + "Bacterial infection of skin": "HP:0100658", + "Skin infection": "HP:0100658", + "Skin infections": "HP:0100658", + "Abnormal cerebral vascular morphology": "HP:0100659", + "Abnormality of the cerebral blood vessels": "HP:0100659", + "Abnormality of the cerebral vasculature": "HP:0100659", + "Dyskinesia": "HP:0100660", + "Disorder of involuntary muscle movements": "HP:0100660", + "Dyskinesis": "HP:0100660", + "Dyskinesias": "HP:0100660", + "Trigeminal neuralgia": "HP:0100661", + "Tic douloureux": "HP:0100661", + "Chondritis": "HP:0100662", + "Cartilage inflammation": "HP:0100662", + "Synotia": "HP:0100663", + "Angioedema": "HP:0100665", + "Angioneurotic edema": "HP:0100665", + "Angioneurotic oedema": "HP:0100665", + "Angiooedema": "HP:0100665", + "Quincke edema": "HP:0100665", + "Quincke oedema": "HP:0100665", + "Intestinal duplication": "HP:0100668", + "Bowel duplication": "HP:0100668", + "Gut duplication": "HP:0100668", + "Abnormal pigmentation of the oral mucosa": "HP:0100669", + "Abnormal color of the oral mucosa": "HP:0100669", + "Abnormal colour of the oral mucosa": "HP:0100669", + "Abnormal pigmentation of oral cavity": "HP:0100669", + "Abnormal pigmentation of oral mucous membrane": "HP:0100669", + "Abnormal pigmentation of the oral mucosa/gingivae": "HP:0100669", + "Coarse metaphyseal trabecularization": "HP:0100670", + "Coarse trabeculation at metaphyses": "HP:0100670", + "Rough bone trabeculation": "HP:0100670", + "Rough trabeculation of bone": "HP:0100670", + "Abnormal trabecular bone morphology": "HP:0100671", + "Abnormal shape of spongy bone": "HP:0100671", + "Abnormality of bone trabeculation": "HP:0100671", + "Vaginal hernia": "HP:0100672", + "Vaginal hydrocele": "HP:0100673", + "Vaginal hematocele": "HP:0100674", + "Vaginal pyocele": "HP:0100675", + "Vaginal lymphocele": "HP:0100676", + "Vulval varicose vein": "HP:0100677", + "Premature skin wrinkling": "HP:0100678", + "Wrinkled skin": "HP:0100678", + "Lack of skin elasticity": "HP:0100679", + "Tight skin": "HP:0100679", + "Esophageal duplication": "HP:0100681", + "Tracheal atresia": "HP:0100682", + "Salivary gland neoplasm": "HP:0100684", + "Salivary gland neoplasia": "HP:0100684", + "Tumor of salivary gland": "HP:0100684", + "Tumour of salivary gland": "HP:0100684", + "Cancer of salivary gland": "HP:0100684", + "Abnormal Sharpey fiber morphology": "HP:0100685", + "Abnormal Sharpey fibre morphology": "HP:0100685", + "Abnormality of Sharpey fibers": "HP:0100685", + "Abnormality of Sharpey fibres": "HP:0100685", + "Enthesis abnormality": "HP:0100685", + "Enthesitis": "HP:0100686", + "Inflammation of sharpey fibers": "HP:0100686", + "Inflammation of sharpey fibres": "HP:0100686", + "Polyotia": "HP:0100687", + "Decreased corneal thickness": "HP:0100689", + "Thin cornea": "HP:0100689", + "Mosaic central corneal dystrophy": "HP:0100690", + "Abnormality of the curvature of the cornea": "HP:0100691", + "Increased corneal curvature": "HP:0100692", + "Steep corneal curvature": "HP:0100692", + "Iridodonesis": "HP:0100693", + "Tibial torsion": "HP:0100694", + "Lipedema": "HP:0100695", + "Neurofibrosarcoma": "HP:0100697", + "Malignant peripheral nerve sheath tumor": "HP:0100697", + "Malignant peripheral nerve sheath tumour": "HP:0100697", + "Malignant schwannoma": "HP:0100697", + "Neurosarcoma": "HP:0100697", + "Subcutaneous neurofibroma": "HP:0100698", + "Scarring": "HP:0100699", + "Scar tissue": "HP:0100699", + "Abnormal arachnoid mater morphology": "HP:0100700", + "Abnormality of the arachnoid mater": "HP:0100700", + "Abnormality of the arachnoidea": "HP:0100700", + "Abnormal pia mater": "HP:0100701", + "Abnormality of the pia mater": "HP:0100701", + "Arachnoid cyst": "HP:0100702", + "Fluid-filled sac located in membrane surrounding brain or spinal cord": "HP:0100702", + "Arachnoid cysts": "HP:0100702", + "Tongue thrusting": "HP:0100703", + "Cerebral visual impairment": "HP:0100704", + "CVI": "HP:0100704", + "Cortical blindness": "HP:0100704", + "Cortical visual impairment": "HP:0100704", + "Cortical/cerebral visual impairment": "HP:0100704", + "Abnormal glial cell morphology": "HP:0100705", + "Abnormality of the glial cells": "HP:0100705", + "Abnormal oligodendroglia morphology": "HP:0100706", + "Abnormality of the oligodendroglia": "HP:0100706", + "Abnormal astrocyte morphology": "HP:0100707", + "Abnormality of the astrocytes": "HP:0100707", + "Abnormal microglia morphology": "HP:0100708", + "Abnormality of the microglia": "HP:0100708", + "Reduction of oligodendroglia": "HP:0100709", + "Impulsivity": "HP:0100710", + "Impulsive": "HP:0100710", + "Abnormal thoracic spine morphology": "HP:0100711", + "Abnormality of the thoracic spine": "HP:0100711", + "Abnormal lumbar spine morphology": "HP:0100712", + "Abnormality of the lumbar spine": "HP:0100712", + "Self-injurious behavior": "HP:0100716", + "Autoagression": "HP:0100716", + "Self injury": "HP:0100716", + "Self-harm": "HP:0100716", + "Self-injurious behaviors": "HP:0100716", + "Self-injurious behaviours": "HP:0100716", + "Abnormal cementum morphology": "HP:0100717", + "Abnormality of the cementum": "HP:0100717", + "Uterine rupture": "HP:0100718", + "Lens coloboma": "HP:0100719", + "Hypoplasia of the ear cartilage": "HP:0100720", + "Underdeveloped ear cartilage": "HP:0100720", + "Mediastinal lymphadenopathy": "HP:0100721", + "Swollen lymph nodes in center of chest": "HP:0100721", + "Swollen lymph nodes in centre of chest": "HP:0100721", + "Gastrointestinal stroma tumor": "HP:0100723", + "GI stroma tumor": "HP:0100723", + "GI stroma tumour": "HP:0100723", + "GIST": "HP:0100723", + "Gastrointestinal stroma tumour": "HP:0100723", + "Gastrointestinal stromal tumor": "HP:0100723", + "Gastrointestinal stromal tumour": "HP:0100723", + "Gastrointestinal stromal tumors": "HP:0100723", + "Gastrointestinal stromal tumours": "HP:0100723", + "Hypercoagulability": "HP:0100724", + "Blood hyperviscosity": "HP:0100724", + "Thrombophilia": "HP:0100724", + "Lichenification": "HP:0100725", + "Kaposi's sarcoma": "HP:0100726", + "Histiocytosis": "HP:0100727", + "Germ cell neoplasia": "HP:0100728", + "Large face": "HP:0100729", + "Big face": "HP:0100729", + "Large facies": "HP:0100729", + "Bronchogenic cyst": "HP:0100730", + "Transverse facial cleft": "HP:0100731", + "Lateral facial cleft": "HP:0100731", + "Pancreatic fibrosis": "HP:0100732", + "Neoplasm of the parathyroid gland": "HP:0100733", + "Parathyroid neoplasia": "HP:0100733", + "Abnormal vertebral epiphysis morphology": "HP:0100734", + "Abnormal shape of the end part of the vertebra bone": "HP:0100734", + "Abnormality of the vertebral epiphyses": "HP:0100734", + "Abnormality of vertebral epiphysis morphology": "HP:0100734", + "Hypertensive crisis": "HP:0100735", + "Abnormal soft palate morphology": "HP:0100736", + "Abnormality of the muscular palate": "HP:0100736", + "Abnormality of the soft palate": "HP:0100736", + "Abnormality of the velum": "HP:0100736", + "Abnormality of the velum palatinum": "HP:0100736", + "Abnormal hard palate morphology": "HP:0100737", + "Abnormality of the secondary palate": "HP:0100737", + "Abnormality of the hard palate": "HP:0100737", + "Abnormal eating behavior": "HP:0100738", + "Abnormal eating behaviour": "HP:0100738", + "Bulimia": "HP:0100739", + "Binge and purge": "HP:0100739", + "Vascular neoplasm": "HP:0100742", + "Blood vessel tumor": "HP:0100742", + "Blood vessel tumour": "HP:0100742", + "Neoplasm of the rectum": "HP:0100743", + "Rectal tumor": "HP:0100743", + "Rectal tumour": "HP:0100743", + "Abnormality of the humeroradial joint": "HP:0100744", + "Abnormality of the humeroulnar joint": "HP:0100745", + "Macrodactyly of finger": "HP:0100746", + "Macrodactyly of hands": "HP:0100746", + "Macrodactyly of toe": "HP:0100747", + "Foot macrodactyly": "HP:0100747", + "Muscular edema": "HP:0100748", + "Muscular oedema": "HP:0100748", + "Chest pain": "HP:0100749", + "Thoracic pain": "HP:0100749", + "Chest discomfort": "HP:0100749", + "Atelectasis": "HP:0100750", + "Partial or complete collapse of part or entire lung": "HP:0100750", + "Pulmonary atelectasis": "HP:0100750", + "Esophageal neoplasm": "HP:0100751", + "Esophageal tumor": "HP:0100751", + "Esophageal tumour": "HP:0100751", + "Abnormal liver lobulation": "HP:0100752", + "Anomalous liver lobulation": "HP:0100752", + "Hepatic anomalous lobulation": "HP:0100752", + "Liver lobation abnormal": "HP:0100752", + "Schizophrenia": "HP:0100753", + "Mania": "HP:0100754", + "Hypomania": "HP:0100754", + "Hypomanic": "HP:0100754", + "Manic": "HP:0100754", + "Abnormality of salivation": "HP:0100755", + "Abnormal spit": "HP:0100755", + "Pancreatoblastoma": "HP:0100757", + "Gangrene": "HP:0100758", + "Death of body tissue due to lack of blood flow or infection": "HP:0100758", + "Clubbing of fingers": "HP:0100759", + "Clubbed fingers": "HP:0100759", + "Clubbing (hands)": "HP:0100759", + "Finger clubbing": "HP:0100759", + "Clubbing of toes": "HP:0100760", + "Clubbed toes": "HP:0100760", + "Visceral angiomatosis": "HP:0100761", + "Hemobilia": "HP:0100762", + "Haemobilia": "HP:0100762", + "Abnormality of the lymphatic system": "HP:0100763", + "Lymphatic disease": "HP:0100763", + "Lymphangioma": "HP:0100764", + "Abnormality of the tonsils": "HP:0100765", + "Abnormal lymphatic vessel morphology": "HP:0100766", + "Abnormality of the lymphatic vessels": "HP:0100766", + "Abnormal placenta morphology": "HP:0100767", + "Abnormality of the placenta": "HP:0100767", + "Placental issue": "HP:0100767", + "Choriocarcinoma": "HP:0100768", + "Synovitis": "HP:0100769", + "Hyperperistalsis": "HP:0100770", + "Stomach churning": "HP:0100770", + "Hypoperistalsis": "HP:0100771", + "Intestinal hypoperistalsis": "HP:0100771", + "Cartilage destruction": "HP:0100773", + "Hyperostosis": "HP:0100774", + "Bone Hypertrophy": "HP:0100774", + "Bone overgrowth": "HP:0100774", + "Dural ectasia": "HP:0100775", + "Recurrent pharyngitis": "HP:0100776", + "Pharyngitis, recurrent": "HP:0100776", + "Recurrent sore throat": "HP:0100776", + "Exostoses": "HP:0100777", + "Formation of new noncancerous bone on top of existing bone": "HP:0100777", + "Cryoglobulinemia": "HP:0100778", + "Cryoprecipitable immune complexes": "HP:0100778", + "Urogenital sinus anomaly": "HP:0100779", + "Conjunctival hamartoma": "HP:0100780", + "Abnormal sacroiliac joint morphology": "HP:0100781", + "Abnormality of the sacroiliac joint": "HP:0100781", + "Breast aplasia": "HP:0100783", + "Absent breast": "HP:0100783", + "Congenital absence of breast": "HP:0100783", + "Mammary gland aplasia": "HP:0100783", + "Peripheral arteriovenous fistula": "HP:0100784", + "Insomnia": "HP:0100785", + "Difficulty staying or falling asleep": "HP:0100785", + "Fragmented sleep": "HP:0100785", + "Hypersomnia": "HP:0100786", + "Excessive sleep": "HP:0100786", + "Excessive sleepiness": "HP:0100786", + "Prostate neoplasm": "HP:0100787", + "Fused lips": "HP:0100788", + "Adhesion of upper and lower lips": "HP:0100788", + "Fusion of upper and lower lips": "HP:0100788", + "Torus palatinus": "HP:0100789", + "Maxillary torus": "HP:0100789", + "Palatal tori": "HP:0100789", + "Palatal torus": "HP:0100789", + "Palate exostoses": "HP:0100789", + "Prominent midpalatal ridge": "HP:0100789", + "Hernia": "HP:0100790", + "Hernias": "HP:0100790", + "Acantholysis": "HP:0100792", + "Nikolsky's sign": "HP:0100792", + "Abnormally straight spine": "HP:0100795", + "Orchitis": "HP:0100796", + "Inflammation of testicles": "HP:0100796", + "Toenail dysplasia": "HP:0100797", + "Abnormal toenail development": "HP:0100797", + "Dysplastic toenails": "HP:0100797", + "Fingernail dysplasia": "HP:0100798", + "Abnormal fingernail development": "HP:0100798", + "Dysplastic fingernails": "HP:0100798", + "Neoplasm of the middle ear": "HP:0100799", + "Middle ear tumor": "HP:0100799", + "Middle ear tumour": "HP:0100799", + "Neoplasia of the middle ear": "HP:0100799", + "Aplasia/Hypoplasia of the pancreas": "HP:0100800", + "Absent/small pancreas": "HP:0100800", + "Absent/underdeveloped pancreas": "HP:0100800", + "Pancreatic aplasia": "HP:0100801", + "Absent pancreas": "HP:0100801", + "Malposition of the stomach": "HP:0100802", + "Abnormal stomach location": "HP:0100802", + "Gastric ectopia": "HP:0100802", + "Gastric malposition": "HP:0100802", + "Abnormal periungual morphology": "HP:0100803", + "Abnormality of the periungual region": "HP:0100803", + "Ungual fibroma": "HP:0100804", + "Koenen tumor": "HP:0100804", + "Koenen tumour": "HP:0100804", + "Koenen's tumor": "HP:0100804", + "Koenen's tumour": "HP:0100804", + "Parungual fibromas": "HP:0100804", + "Periungual fibroma": "HP:0100804", + "obsolete Precocious menopause": "HP:0100805", + "Sepsis": "HP:0100806", + "Infection in blood stream": "HP:0100806", + "Long fingers": "HP:0100807", + "Gastric diverticulum": "HP:0100808", + "Stomach diverticulum": "HP:0100808", + "Scalp tenderness": "HP:0100809", + "Scalp pain": "HP:0100809", + "Scalp hypersensitivity": "HP:0100809", + "Allodynia of scalp": "HP:0100809", + "Pointed helix": "HP:0100810", + "Pointed ear": "HP:0100810", + "Elfin ear": "HP:0100810", + "Spock ear": "HP:0100810", + "Spock's ear": "HP:0100810", + "Vulcan ear": "HP:0100810", + "Aplasia/Hypoplasia of the colon": "HP:0100811", + "Absent/small colon": "HP:0100811", + "Absent/underdeveloped colon": "HP:0100811", + "Halitosis": "HP:0100812", + "Bad breath": "HP:0100812", + "Foetor ex ore": "HP:0100812", + "Testicular torsion": "HP:0100813", + "Spermatic cord torsion": "HP:0100813", + "Blue nevus": "HP:0100814", + "Congenital dermal melanocytosis": "HP:0100814", + "Lip hyperpigmentation": "HP:0100816", + "Darkening of skin of the lips": "HP:0100816", + "Hyperpigmentation of lip vermillion": "HP:0100816", + "Increased pigmentation on the lips": "HP:0100816", + "Renovascular hypertension": "HP:0100817", + "Hypertension due to renal artery hyperplasia": "HP:0100817", + "Long thorax": "HP:0100818", + "Long rib cage": "HP:0100818", + "Intestinal fistula": "HP:0100819", + "Glomerulopathy": "HP:0100820", + "Diseased glomeruli": "HP:0100820", + "Urethrocele": "HP:0100821", + "Rectocele": "HP:0100822", + "Genital hernia": "HP:0100823", + "Cheilitis": "HP:0100825", + "Inflammation of the lips": "HP:0100825", + "Red and sore lips": "HP:0100825", + "Neoplasm of the nail": "HP:0100826", + "Nail tumor": "HP:0100826", + "Nail tumour": "HP:0100826", + "Lymphocytosis": "HP:0100827", + "High lymphocyte count": "HP:0100827", + "Increased T cell count": "HP:0100828", + "Increase in T cell count": "HP:0100828", + "Increase in T cell number": "HP:0100828", + "Galactorrhea": "HP:0100829", + "Galactorrhoea": "HP:0100829", + "Spontaneous milk flow from breast": "HP:0100829", + "Round ear": "HP:0100830", + "Abnormality of vitamin K metabolism": "HP:0100831", + "Vitreous floaters": "HP:0100832", + "Eye floaters": "HP:0100832", + "Flitting flies": "HP:0100832", + "Mouches volantes": "HP:0100832", + "Myodeopsia": "HP:0100832", + "Myodesopsia": "HP:0100832", + "Spots in front of eyes": "HP:0100832", + "Vitreous condensations": "HP:0100832", + "Vitreous debris": "HP:0100832", + "Vitreous opacities": "HP:0100832", + "Vitreous veils": "HP:0100832", + "Neoplasm of the small intestine": "HP:0100833", + "Small intestine tumor": "HP:0100833", + "Small intestine tumour": "HP:0100833", + "Neoplasm of the large intestine": "HP:0100834", + "Large intestine tumor": "HP:0100834", + "Large intestine tumour": "HP:0100834", + "Benign neoplasm of the central nervous system": "HP:0100835", + "Benign neoplasm of the CNS": "HP:0100835", + "Malignant neoplasm of the central nervous system": "HP:0100836", + "Malignant neoplasm of the CNS": "HP:0100836", + "Atrophodermia vermiculata": "HP:0100837", + "Vermiculata atrophoderma": "HP:0100837", + "Recurrent cutaneous abscess formation": "HP:0100838", + "Hepatic agenesis": "HP:0100839", + "Failed liver development": "HP:0100839", + "Liver agenesis": "HP:0100839", + "Aplasia/Hypoplasia of the eyebrow": "HP:0100840", + "Absence of eyebrow": "HP:0100840", + "Agenesis of eyebrow": "HP:0100840", + "Hypotrophic eyebrow": "HP:0100840", + "Lack of eyebrow": "HP:0100840", + "Missing eyebrow": "HP:0100840", + "Sparse or absent eyebrows": "HP:0100840", + "Sparse to absent eyebrows": "HP:0100840", + "Sparse/absent eyebrows": "HP:0100840", + "Microgastria": "HP:0100841", + "Septo-optic dysplasia": "HP:0100842", + "De Morsier syndrome": "HP:0100842", + "obsolete Glioblastoma": "HP:0100843", + "Pancreatic fistula": "HP:0100844", + "Anaphylactic shock": "HP:0100845", + "Anaphylaxis": "HP:0100845", + "Palmoplantar pustulosis": "HP:0100847", + "Palmoplantar pustules": "HP:0100847", + "Pustulosis of palms and soles": "HP:0100847", + "Pustulosis palmaris et plantaris": "HP:0100847", + "Neoplasm of the male external genitalia": "HP:0100848", + "Neoplasia of the male external genitalia": "HP:0100848", + "Neoplasm of the scrotum": "HP:0100849", + "Neoplasia of the scrotum": "HP:0100849", + "Scrotum tumor": "HP:0100849", + "Scrotum tumour": "HP:0100849", + "Neoplasm of the penis": "HP:0100850", + "Neoplasia of the penis": "HP:0100850", + "Penis tumor": "HP:0100850", + "Penis tumour": "HP:0100850", + "Abnormal emotional state": "HP:0100851", + "Abnormal emotion processing": "HP:0100851", + "Abnormal emotion/affect behavior": "HP:0100851", + "Abnormal emotion/affect behaviour": "HP:0100851", + "Abnormal mood/emotion/affect": "HP:0100851", + "Abnormal mood/emotion/affect/thought": "HP:0100851", + "Emotion dysregulation": "HP:0100851", + "Abnormal fear-induced behavior": "HP:0100852", + "Abnormal fear/anxiety-related behavior": "HP:0100852", + "Abnormal fear/anxiety-related behaviour": "HP:0100852", + "Hypoplastic areola": "HP:0100853", + "Hypoplastic areolae": "HP:0100853", + "Aplasia of the musculature": "HP:0100854", + "Absent musculature": "HP:0100854", + "Triceps hypoplasia": "HP:0100855", + "Small triceps": "HP:0100855", + "Underdeveloped triceps": "HP:0100855", + "Poorly ossified vertebrae": "HP:0100856", + "Flat sella turcica": "HP:0100857", + "Dilatation of celiac artery": "HP:0100858", + "Dilatation of coeliac artery": "HP:0100858", + "Celiac artery aneurysm": "HP:0100858", + "Coeliac artery aneurysm": "HP:0100858", + "Dilatation of superior mesenteric artery": "HP:0100859", + "Superior mesenteric artery aneurysm": "HP:0100859", + "Dilatation of Inferior mesenteric artery": "HP:0100860", + "Inferior mesenteric artery aneurysm": "HP:0100860", + "Sclerotic vertebral body": "HP:0100861", + "Vertebral body sclerosis": "HP:0100861", + "Aplasia of the femoral head": "HP:0100862", + "Absent femoral head": "HP:0100862", + "Aplasia of the femoral neck": "HP:0100863", + "Absent neck of thighbone": "HP:0100863", + "Short femoral neck": "HP:0100864", + "Hypoplasia of the femoral neck": "HP:0100864", + "Hypoplastic femoral neck": "HP:0100864", + "Short femoral necks": "HP:0100864", + "Short neck of thighbone": "HP:0100864", + "Broad ischia": "HP:0100865", + "Short iliac bones": "HP:0100866", + "Short pelvis bones": "HP:0100866", + "Duodenal stenosis": "HP:0100867", + "Duodenal stenosis/atresia": "HP:0100867", + "Palmar telangiectasia": "HP:0100869", + "Telangiectases of palms and soles": "HP:0100869", + "Teleangiectases of palms": "HP:0100869", + "Plantar telangiectasia": "HP:0100870", + "Plantar teleangiectasia": "HP:0100870", + "Telangiectases of soles": "HP:0100870", + "Teleangiectases of soles": "HP:0100870", + "Abnormal palm morphology": "HP:0100871", + "Abnormality of the palm": "HP:0100871", + "Abnormality of the plantar skin of foot": "HP:0100872", + "Minor feet anomalies": "HP:0100872", + "Thick hair": "HP:0100874", + "Increased follicular density": "HP:0100874", + "Increased hair density": "HP:0100874", + "Hemimacroglossia": "HP:0100875", + "Hemiglossal hyperplasia": "HP:0100875", + "Hyperplasia of half of the tongue": "HP:0100875", + "Hemiglossal hypertrophy": "HP:0100875", + "Hypertrophy of half of the tongue": "HP:0100875", + "Increased size of half of the tongue": "HP:0100875", + "Large half of tongue": "HP:0100875", + "Infra-orbital crease": "HP:0100876", + "Crease in skin under the eye": "HP:0100876", + "Groove in skin under the eye": "HP:0100876", + "Infraorbital crease": "HP:0100876", + "Infraorbital creases": "HP:0100876", + "Underorbital skin creases": "HP:0100876", + "Renal diverticulum": "HP:0100877", + "Caliceal diverticulum": "HP:0100877", + "Pelvic diverticulum": "HP:0100877", + "Renal pelvic diverticulum": "HP:0100877", + "Enlarged uterus": "HP:0100878", + "Enlarged ovaries": "HP:0100879", + "Nephrogenic rest": "HP:0100880", + "Congenital mesoblastic nephroma": "HP:0100881", + "Fibrous hamartoma": "HP:0100882", + "Fibrous hamartoma of infancy": "HP:0100882", + "Chorangioma": "HP:0100883", + "Placental hamartoma": "HP:0100883", + "Compensatory scoliosis": "HP:0100884", + "Lateral venous anomaly": "HP:0100885", + "Klippel-Trenaunay vein": "HP:0100885", + "Lateral marginal vein of Servelle": "HP:0100885", + "Vein of Servelle": "HP:0100885", + "Abnormality of globe location": "HP:0100886", + "Abnormality of eyeball location": "HP:0100886", + "Abnormality of eyeball position": "HP:0100886", + "Abnormality of globe position": "HP:0100886", + "Abnormality of globe size": "HP:0100887", + "Abnormality of eyeball size": "HP:0100887", + "Eye size difference": "HP:0100887", + "Interdigital loops": "HP:0100888", + "Abnormal ductus choledochus morphology": "HP:0100889", + "Abnormality of the common bile duct": "HP:0100889", + "Abnormality of the ductus choledochus": "HP:0100889", + "Cyst of the ductus choledochus": "HP:0100890", + "Choledochal cyst": "HP:0100890", + "Bifid xiphoid process": "HP:0100891", + "Bifid xiphisternum": "HP:0100891", + "Abnormality of the xiphoid process": "HP:0100892", + "Prominent xiphoid process": "HP:0100893", + "Prominent xiphisternum": "HP:0100893", + "Broad xiphoid process": "HP:0100894", + "Broad xiphisternum": "HP:0100894", + "Rectal polyposis": "HP:0100896", + "Multiple rectal polyps": "HP:0100896", + "Rectal polyps": "HP:0100896", + "Connective tissue nevi": "HP:0100898", + "Sclerosis of finger phalanx": "HP:0100899", + "Increased bone density in the finger bone": "HP:0100899", + "Sclerosis of the phalanges of the hand": "HP:0100899", + "Sclerosis of the distal phalanx of the 2nd finger": "HP:0100900", + "Increased bone density in the outermost bone of the index finger": "HP:0100900", + "Sclerosis of the distal phalanx of the 3rd finger": "HP:0100901", + "Increased bone density in the outermost bone of the middle finger": "HP:0100901", + "Sclerosis of the distal phalanx of the 4th finger": "HP:0100902", + "Increased bone density in the outermost bone of the ring finger": "HP:0100902", + "Sclerosis of the distal phalanx of the 5th finger": "HP:0100903", + "Increased bone density in the outermost little finger bone": "HP:0100903", + "Increased bone density in the outermost pinkie finger bone": "HP:0100903", + "Increased bone density in the outermost pinky finger bone": "HP:0100903", + "Sclerosis of the middle phalanx of the 2nd finger": "HP:0100904", + "Increased bone density in the middle bone of the index finger": "HP:0100904", + "Sclerosis of the middle phalanx of the 3rd finger": "HP:0100905", + "Increased bone density in the middle bone of the middle finger": "HP:0100905", + "Sclerosis of the middle phalanx of the 4th finger": "HP:0100906", + "Increased bone density in the middle bone of the ring finger": "HP:0100906", + "Sclerosis of the middle phalanx of the 5th finger": "HP:0100907", + "Increased bone density in the middle bone of the little finger": "HP:0100907", + "Increased bone density in the middle bone of the pinkie finger": "HP:0100907", + "Increased bone density in the middle bone of the pinky finger": "HP:0100907", + "Sclerosis of the proximal phalanx of the 2nd finger": "HP:0100908", + "Increased bone density in the innermost bone of the index finger": "HP:0100908", + "Sclerosis of the proximal phalanx of the 3rd finger": "HP:0100909", + "Increased bone density in innermost bone of the middle finger": "HP:0100909", + "Sclerosis of the proximal phalanx of the 4th finger": "HP:0100910", + "Increased bone density in the innermost bone of the ring finger": "HP:0100910", + "Sclerosis of the proximal phalanx of the 5th finger": "HP:0100911", + "Increased bone density in innermost little finger bone": "HP:0100911", + "Increased bone density in innermost pinkie finger bone": "HP:0100911", + "Increased bone density in innermost pinky finger bone": "HP:0100911", + "Sclerosis of the distal phalanx of the thumb": "HP:0100912", + "Increased bone density in the outermost bone of the thumb": "HP:0100912", + "Sclerosis of the proximal phalanx of the thumb": "HP:0100913", + "Increased bone density in the innermost bone of the thumb": "HP:0100913", + "Sclerosis of the 1st metacarpal": "HP:0100914", + "Increased bone density in 1st long bone of hand": "HP:0100914", + "Sclerosis of distal finger phalanx": "HP:0100915", + "Increased bone density in outermost finger bone": "HP:0100915", + "Sclerosis of the distal phalanges of the hand": "HP:0100915", + "Sclerosis of middle finger phalanx": "HP:0100916", + "Increased bone density in middle finger bone of hand": "HP:0100916", + "Sclerosis of the middle phalanges of the hand": "HP:0100916", + "Sclerosis of proximal finger phalanx": "HP:0100917", + "Increased bone density in innermost finger bone": "HP:0100917", + "Sclerosis of the proximal phalanges of the hand": "HP:0100917", + "Sclerosis of 2nd finger phalanx": "HP:0100918", + "Increased bone density in 2nd finger bone": "HP:0100918", + "Sclerosis of the phalanges of the 2nd finger": "HP:0100918", + "Sclerosis of 3rd finger phalanx": "HP:0100919", + "Increased bone density in middle finger bone": "HP:0100919", + "Sclerosis of the phalanges of the 3rd finger": "HP:0100919", + "Sclerosis of 4th finger phalanx": "HP:0100920", + "Increased bone density in ring finger bone": "HP:0100920", + "Sclerosis of the phalanges of the 4th finger": "HP:0100920", + "Sclerosis of 5th finger phalanx": "HP:0100921", + "Increased bone density in little finger bone": "HP:0100921", + "Increased bone density in pinkie finger bone": "HP:0100921", + "Increased bone density in pinky finger bone": "HP:0100921", + "Sclerosis of the phalanges of the 5th finger": "HP:0100921", + "Sclerosis of thumb phalanx": "HP:0100922", + "Increased bone density in thumb bone": "HP:0100922", + "Sclerosis of the phalanges of the thumb": "HP:0100922", + "Clavicular sclerosis": "HP:0100923", + "Increased bone density in collarbone": "HP:0100923", + "Osteosclerosis of the clavicle": "HP:0100923", + "Osteosclerosis of the clavicles": "HP:0100923", + "Sclerosis of toe phalanx": "HP:0100924", + "Increased bone density in the toe bone": "HP:0100924", + "Sclerosis of the phalanges of the toes": "HP:0100924", + "Sclerosis of foot bone": "HP:0100925", + "Increased bone density in foot bone": "HP:0100925", + "Sclerosis of bones of the feet": "HP:0100925", + "Sclerosis of 2nd toe phalanx": "HP:0100926", + "Increased bone density in 2nd toe bone": "HP:0100926", + "Sclerosis of the phalanges of the 2nd toe": "HP:0100926", + "Sclerosis of 3rd toe phalanx": "HP:0100927", + "Increased bone density in 3rd toe bone": "HP:0100927", + "Sclerosis of the phalanges of the 3rd toe": "HP:0100927", + "Sclerosis of 4th toe phalanx": "HP:0100928", + "Increased bone density in 4th toe bone": "HP:0100928", + "Sclerosis of the phalanges of the 4th toe": "HP:0100928", + "Sclerosis of 5th toe phalanx": "HP:0100929", + "Increased bone density in little toe bone": "HP:0100929", + "Increased bone density in pinkie toe bone": "HP:0100929", + "Increased bone density in pinky toe bone": "HP:0100929", + "Sclerosis of the phalanges of the 5th toe": "HP:0100929", + "Sclerosis of hallux phalanx": "HP:0100930", + "Increased bone density in big toe bone": "HP:0100930", + "Sclerosis of the phalanges of the hallux": "HP:0100930", + "Sclerosis of the proximal phalanx of the 2nd toe": "HP:0100931", + "Increased bone density in the innermost bone of the 2nd toe": "HP:0100931", + "Sclerosis of the proximal phalanx of the 3rd toe": "HP:0100932", + "Increased bone density in the innermost bone of the 3rd toe": "HP:0100932", + "Sclerosis of the proximal phalanx of the 4th toe": "HP:0100933", + "Increased bone density in the innermost bone of the 4th toe": "HP:0100933", + "Sclerosis of the proximal phalanx of the 5th toe": "HP:0100934", + "Increased bone density in the innermost bone of the little toe": "HP:0100934", + "Increased bone density in the innermost bone of the pinkie toe": "HP:0100934", + "Increased bone density in the innermost bone of the pinky toe": "HP:0100934", + "Sclerosis of the middle phalanx of the 2nd toe": "HP:0100935", + "Increased bone density in the middle bone of the 2nd toe": "HP:0100935", + "Sclerosis of the middle phalanx of the 3rd toe": "HP:0100936", + "Increased bone density in the middle bone of the 3rd toe": "HP:0100936", + "Sclerosis of the middle phalanx of the 4th toe": "HP:0100937", + "Increased bone density in the middle bone of the 4th toe": "HP:0100937", + "Sclerosis of the middle phalanx of the 5th toe": "HP:0100938", + "Increased bone density in the middle bone of the little toe": "HP:0100938", + "Increased bone density in the middle bone of the pinkie toe": "HP:0100938", + "Increased bone density in the middle bone of the pinky toe": "HP:0100938", + "Sclerosis of the distal phalanx of the 2nd toe": "HP:0100939", + "Increased bone density in the outermost bone of the 2nd toe": "HP:0100939", + "Sclerosis of the distal phalanx of the 3rd toe": "HP:0100940", + "Increased bone density in the outermost bone of the 3rd toe": "HP:0100940", + "Sclerosis of the distal phalanx of the 4th toe": "HP:0100941", + "Increased bone density in the outermost bone of the 4th toe": "HP:0100941", + "Sclerosis of the distal phalanx of the 5th toe": "HP:0100942", + "Increased bone density in the outermost bone of the little toe": "HP:0100942", + "Increased bone density in the outermost bone of the pinkie toe": "HP:0100942", + "Increased bone density in the outermost bone of the pinky toe": "HP:0100942", + "Sclerosis of the proximal phalanx of the hallux": "HP:0100943", + "Increased bone density in the innermost bone of the big toe": "HP:0100943", + "Sclerosis of the distal phalanx of the hallux": "HP:0100944", + "Increased bone density in the outermost bone of the big toe": "HP:0100944", + "Sclerosis of the 1st metatarsal": "HP:0100945", + "Increased bone density in the 1st long bone of foot": "HP:0100945", + "Sclerosis of proximal toe phalanx": "HP:0100946", + "Increased bone density in innermost toe bone": "HP:0100946", + "Sclerosis of the proximal phalanges of the toes": "HP:0100946", + "Sclerosis of middle toe phalanx": "HP:0100947", + "Increased bone density in middle toe bone": "HP:0100947", + "Sclerosis of the middle phalanges of the toes": "HP:0100947", + "Sclerosis of distal toe phalanx": "HP:0100948", + "Increased bone density in the outermost bone of the toes": "HP:0100948", + "Sclerosis of the distal phalanges of the toes": "HP:0100948", + "Decreased 3-hydroxyacyl-CoA dehydrogenase level": "HP:0100950", + "Long chain 3 hydroxyacyl coA dehydrogenase deficiency": "HP:0100950", + "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency": "HP:0100950", + "Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency": "HP:0100950", + "Enlarged fossa interpeduncularis": "HP:0100951", + "Enlarged basal cistern": "HP:0100951", + "Enlarged interpeduncular cistern": "HP:0100951", + "Enlarged sylvian cistern": "HP:0100952", + "Enlarged lateral fissure": "HP:0100952", + "Enlarged lateral sulcus": "HP:0100952", + "Enlarged sylvian fissure": "HP:0100952", + "Enlarged interhemispheric fissure": "HP:0100953", + "Enlarged great longitudinal fissure": "HP:0100953", + "Enlarged longitudinal cerebral fissure": "HP:0100953", + "Enlarged longitudinal fissure": "HP:0100953", + "Open operculum": "HP:0100954", + "Giant cell granuloma of mandible": "HP:0100955", + "Abnormal renal medulla morphology": "HP:0100957", + "Abnormality of the renal medulla": "HP:0100957", + "Narrow foramen obturatorium": "HP:0100958", + "Dense metaphyseal bands": "HP:0100959", + "Dense metaphyseal band sign": "HP:0100959", + "Dense metaphyseal lines": "HP:0100959", + "Lead lines in metaphyses of bones": "HP:0100959", + "Transverse metaphyseal bands": "HP:0100959", + "Lateral ventricular asymmetry": "HP:0100960", + "Asymmetric lateral ventricles": "HP:0100960", + "Asymmetric ventricles": "HP:0100960", + "Cerebral lateral ventricular asymmetry": "HP:0100960", + "Enlarged hippocampus": "HP:0100961", + "Excessive shyness": "HP:0100962", + "Shyness": "HP:0100962", + "Hyperesthesia": "HP:0100963", + "Hyperaesthesia": "HP:0100963", + "Dysharmonic skeletal maturation": "HP:0200000", + "Dysharmonic bone age": "HP:0200000", + "Dysharmonic accelerated bone age": "HP:0200001", + "Splayed epiphyses": "HP:0200003", + "Splayed end part of bone": "HP:0200003", + "Abnormal shape of the palpebral fissure": "HP:0200005", + "Abnormal morphology of the palpebral fissure": "HP:0200005", + "Abnormal shape of the opening between the eyelids": "HP:0200005", + "Slanting of the palpebral fissure": "HP:0200006", + "Slanting of the opening between the eyelids": "HP:0200006", + "Abnormal size of the palpebral fissures": "HP:0200007", + "Abnormal size of the opening between the eyelids": "HP:0200007", + "Abnormal size of the eyes": "HP:0200007", + "Intestinal polyposis": "HP:0200008", + "Growths in inner lining of intestine": "HP:0200008", + "Multiple intestinal polyps": "HP:0200008", + "Gastrointestinal polyps": "HP:0200008", + "Abnormal length of corpus callosum": "HP:0200011", + "Short corpus callosum": "HP:0200012", + "Neoplasm of fatty tissue": "HP:0200013", + "Tumor of fatty tissue": "HP:0200013", + "Tumour of fatty tissue": "HP:0200013", + "Symmetric great toe depigmentation": "HP:0200015", + "Acrokeratosis": "HP:0200016", + "Acral keratosis": "HP:0200016", + "Cerebral white matter agenesis": "HP:0200017", + "Agenesis of the cerebral white matter": "HP:0200017", + "White matter agenesis": "HP:0200017", + "Protanomaly": "HP:0200018", + "Colorblindness, partial, protan series": "HP:0200018", + "Red-weak": "HP:0200018", + "Corneal erosion": "HP:0200020", + "Damage to outer layer of the cornea of the eye": "HP:0200020", + "Down-sloping shoulders": "HP:0200021", + "Rounded shoulders": "HP:0200021", + "Rounded, sloping shoulders": "HP:0200021", + "Sloping shoulders": "HP:0200021", + "Choroid plexus papilloma": "HP:0200022", + "Priapism": "HP:0200023", + "hulseyism": "HP:0200023", + "Premature chromatid separation": "HP:0200024", + "Mandibular pain": "HP:0200025", + "Lower jaw pain": "HP:0200025", + "Ocular pain": "HP:0200026", + "Eye pain": "HP:0200026", + "Pretibial myxedema": "HP:0200028", + "Graves dermopathy": "HP:0200028", + "Vasculitis in the skin": "HP:0200029", + "Cutaneous vasculitis": "HP:0200029", + "Punctate vasculitis skin lesions": "HP:0200030", + "Kayser-Fleischer ring": "HP:0200032", + "Fleischer's ring": "HP:0200032", + "Fleischer-Kayser ring": "HP:0200032", + "Fleischer-Struempell ring": "HP:0200032", + "Papule": "HP:0200034", + "Papules": "HP:0200034", + "Skin papules": "HP:0200034", + "Skin plaque": "HP:0200035", + "Skin nodule": "HP:0200036", + "Growth of abnormal tissue on or under the skin": "HP:0200036", + "Skin vesicle": "HP:0200037", + "Pustule": "HP:0200039", + "Pimple": "HP:0200039", + "Pustula": "HP:0200039", + "Pustular lesion": "HP:0200039", + "Pustules": "HP:0200039", + "Skin pustule": "HP:0200039", + "Skin pustules": "HP:0200039", + "Epidermoid cyst": "HP:0200040", + "Epidermal cyst": "HP:0200040", + "Epidermal inclusion cyst": "HP:0200040", + "Infundibular cyst": "HP:0200040", + "Keratin cyst": "HP:0200040", + "Epidermoid cysts": "HP:0200040", + "Sebaceous cyst": "HP:0200040", + "Skin erosion": "HP:0200041", + "Skin ulcer": "HP:0200042", + "Open skin sore": "HP:0200042", + "Verrucae": "HP:0200043", + "Warts": "HP:0200043", + "Porokeratosis": "HP:0200044", + "Cat cry": "HP:0200046", + "cat-like cry": "HP:0200046", + "cri de chat-associated cry": "HP:0200046", + "Chondritis of pinna": "HP:0200047", + "Inflammation of cartilage of pinna": "HP:0200047", + "Cyanotic episode": "HP:0200048", + "Upper limb hypertonia": "HP:0200049", + "Bracket metacarpal epiphyses": "HP:0200050", + "Bracket shaped end part of long bone of hand": "HP:0200050", + "Hemihypotrophy of lower limb": "HP:0200053", + "Asymmetric leg shortening": "HP:0200053", + "Asymmetric lower limb shortness": "HP:0200053", + "Foot monodactyly": "HP:0200054", + "Small hand": "HP:0200055", + "Disproportionately small hands": "HP:0200055", + "Small hands": "HP:0200055", + "Macular scar": "HP:0200056", + "Macular scarring": "HP:0200056", + "Marcus Gunn pupil": "HP:0200057", + "Relative afferent pupil defect": "HP:0200057", + "Relative afferent pupillary defect": "HP:0200057", + "Angiosarcoma": "HP:0200058", + "Metastatic angiosarcoma": "HP:0200059", + "Colorectal polyposis": "HP:0200063", + "Colorectal polyps": "HP:0200063", + "Asymmetry of iris pigmentation": "HP:0200064", + "Chorioretinal degeneration": "HP:0200065", + "Ribbonlike corneal degeneration": "HP:0200066", + "Recurrent spontaneous abortion": "HP:0200067", + "Spontaneous abortion, recurrent": "HP:0200067", + "Nonprogressive visual loss": "HP:0200068", + "Decreased visual acuity, nonprogressive": "HP:0200068", + "Peripheral retinal atrophy": "HP:0200070", + "Wasting of the outer part of the retina": "HP:0200070", + "Peripheral vitreoretinal degeneration": "HP:0200071", + "Episodic quadriplegia": "HP:0200072", + "Quadriplegia, episodic": "HP:0200072", + "Respiratory insufficiency due to defective ciliary clearance": "HP:0200073", + "Severe limb shortening": "HP:0200083", + "Giant cell hepatitis": "HP:0200084", + "Giant cell hepatitis on biopsy": "HP:0200084", + "Giant cell hepatitis on liver biopsy": "HP:0200084", + "Giant cell hepatitis shown on biopsy": "HP:0200084", + "Limb tremor": "HP:0200085", + "Involuntary shaking of limb": "HP:0200085", + "Tremor of limbs": "HP:0200085", + "Frontal open bite": "HP:0200094", + "obsolete Anterior open bite": "HP:0200095", + "Triangular-shaped open mouth": "HP:0200096", + "Oral mucosal blisters": "HP:0200097", + "Blebs of oral mucosa": "HP:0200097", + "Blisters of mouth": "HP:0200097", + "Bullae of oral mucosa": "HP:0200097", + "Oral blistering": "HP:0200097", + "Oral mucosa blisters": "HP:0200097", + "Absent skin pigmentation": "HP:0200098", + "Lack of skin coloration": "HP:0200098", + "obsolete Peripheral retinal pigmentation abnormalities": "HP:0200099", + "Decreased/absent ankle reflexes": "HP:0200101", + "Decreased or absent ankle reflexes": "HP:0200101", + "Sparse or absent eyelashes": "HP:0200102", + "Partial to total absence of eyelashes": "HP:0200102", + "Sparse to absent eyelashes": "HP:0200102", + "Absent fifth fingernail": "HP:0200104", + "Absent nail of fifth finger": "HP:0200104", + "Absent fifth toenail": "HP:0200105", + "Missing fifth toenail": "HP:0200105", + "Absent/shortened dynein arms": "HP:0200106", + "Shortened inner dynein arms": "HP:0200107", + "Shortened outer dynein arms": "HP:0200108", + "Absent/shortened outer dynein arms": "HP:0200109", + "Respiratory cilia have shortened or absent outer dynein arms": "HP:0200109", + "Absent stapes head": "HP:0200111", + "Aphalangy of hands and feet": "HP:0200113", + "Aphalangy, hands and feet": "HP:0200113", + "Metabolic alkalosis": "HP:0200114", + "Distal ileal atresia": "HP:0200116", + "Recurrent upper and lower respiratory tract infections": "HP:0200117", + "Malabsorption of Vitamin B12": "HP:0200118", + "Malabsorption of cyanocobalamin": "HP:0200118", + "Vitamin B12 deficiency caused by intestinal malabsorption": "HP:0200118", + "Acute hepatitis": "HP:0200119", + "Acute liver inflammation": "HP:0200119", + "Chronic active hepatitis": "HP:0200120", + "Hepatitis, chronic active": "HP:0200120", + "Atypical or prolonged hepatitis": "HP:0200122", + "Atypical or prolonged liver inflammation": "HP:0200122", + "Chronic hepatitis": "HP:0200123", + "Chronic liver inflammation": "HP:0200123", + "Chronic hepatitis due to cryptosporidium infection": "HP:0200124", + "Hepatitis, chronic, due to cryptosporidium infection": "HP:0200124", + "Mitochondrial respiratory chain defects": "HP:0200125", + "obsolete Amyloid cardiomyopathy": "HP:0200126", + "Atrial cardiomyopathy": "HP:0200127", + "Biventricular hypertrophy": "HP:0200128", + "obsolete Calcific mitral stenosis": "HP:0200129", + "Lumbosacral meningocele": "HP:0200133", + "Epileptic encephalopathy": "HP:0200134", + "Convulsive encephalopathy": "HP:0200134", + "obsolete Macrocephaly due to hydrocephalus": "HP:0200135", + "Oral-pharyngeal dysphagia": "HP:0200136", + "Oral pharyngeal dysphagia": "HP:0200136", + "Oropharyngeal dysphagia": "HP:0200136", + "Bilateral choanal atresia/stenosis": "HP:0200138", + "Small, conical teeth": "HP:0200141", + "Conical microdontia": "HP:0200141", + "Small, cone shaped teeth": "HP:0200141", + "Small, peg shaped teeth": "HP:0200141", + "Small, pointed teeth": "HP:0200141", + "Megaloblastic erythroid hyperplasia": "HP:0200143", + "Bone marrow biopsy shows megaloblastic erythroid hyperplasia": "HP:0200143", + "obsolete Anaphylactoid purpura": "HP:0200144", + "Mucoid extracellular matrix accumulation": "HP:0200146", + "Cystic medial necrosis of the aorta": "HP:0200146", + "MEMA": "HP:0200146", + "Neuronal loss in basal ganglia": "HP:0200147", + "Abnormal liver function tests during pregnancy": "HP:0200148", + "Abnormal liver function tests during pregnancy, resolves postpartum": "HP:0200148", + "CSF lymphocytic pleiocytosis": "HP:0200149", + "CSF lymphocytosis": "HP:0200149", + "Increased serum bile acid concentration during pregnancy": "HP:0200150", + "Increased serum bile acid concentration during pregnancy, resolves": "HP:0200150", + "Cutaneous mastocytosis": "HP:0200151", + "Agenesis of lateral incisor": "HP:0200153", + "Failure of development of lateral incisor": "HP:0200153", + "Absence of lateral incisor": "HP:0200153", + "Missing lateral incisor": "HP:0200153", + "Agenesis of mandibular lateral incisor": "HP:0200154", + "Failure of development of mandibular lateral incisor": "HP:0200154", + "Absence of lower lateral incisor": "HP:0200154", + "Absence of mandibular lateral incisor": "HP:0200154", + "Missing lower lateral incisor": "HP:0200154", + "Missing mandibular lateral incisor": "HP:0200154", + "Agenesis of permanent mandibular lateral incisor": "HP:0200158", + "Failure of development of permanent mandibular lateral incisor": "HP:0200158", + "Absence of adult mandibular lateral incisor": "HP:0200158", + "Absence of permanent mandibular lateral incisor": "HP:0200158", + "Missing adult lower lateral incisor": "HP:0200158", + "Missing permanent mandibular lateral incisor": "HP:0200158", + "Agenesis of primary mandibular lateral incisor": "HP:0200159", + "Agenesis of deciduous mandibular lateral incisor": "HP:0200159", + "Failure of development of deciduous mandibular lateral incisor": "HP:0200159", + "Failure of development of primary mandibular lateral incisor": "HP:0200159", + "Absence of deciduous mandibular lateral incisor": "HP:0200159", + "Absence of lower front baby tooth": "HP:0200159", + "Absence of primary mandibular lateral incisor": "HP:0200159", + "Missing deciduous mandibular lateral incisor": "HP:0200159", + "Missing primary mandibular lateral incisor": "HP:0200159", + "Agenesis of maxillary incisor": "HP:0200160", + "Failure of development of maxillary incisor": "HP:0200160", + "Failure of development of upper incisor": "HP:0200160", + "Absence of upper front tooth": "HP:0200160", + "Absence of maxillary incisor": "HP:0200160", + "Missing upper front tooth": "HP:0200160", + "Missing upper incisor": "HP:0200160", + "Agenesis of mandibular incisor": "HP:0200161", + "Agenesis of lower incisor": "HP:0200161", + "Failure of development of mandibular incisor": "HP:0200161", + "Absence of lower front tooth": "HP:0200161", + "Absence of lower incisor": "HP:0200161", + "Absence of mandibular incisor": "HP:0200161", + "Missing lower front tooth": "HP:0200161", + "Missing lower incisor": "HP:0200161", + "Tall chin": "HP:0400000", + "Increased height of chin": "HP:0400000", + "Increased height of menton region": "HP:0400000", + "Long chin": "HP:0400000", + "Vertical excess of chin": "HP:0400000", + "Vertical hyperplasia of chin": "HP:0400000", + "Long lower third of face": "HP:0400000", + "Chin with vertical crease": "HP:0400001", + "Chin with vertical furrow": "HP:0400001", + "Chin with vertical groove": "HP:0400001", + "Chin with vertical sulcus": "HP:0400001", + "Chin, vertical crease": "HP:0400001", + "Cleft chin": "HP:0400001", + "Vertical chin skin cleft": "HP:0400001", + "Vertical menton crease": "HP:0400001", + "Extra concha fold": "HP:0400002", + "Concha, Extra Fold": "HP:0400002", + "Focal absence of the external ear": "HP:0400003", + "Long ear": "HP:0400004", + "Long ears": "HP:0400004", + "Short ear": "HP:0400005", + "Short ears": "HP:0400005", + "Polymenorrhea": "HP:0400007", + "Menometrorrhagia": "HP:0400008", + "Abnormal vomer morphology": "HP:0410000", + "Abnormality of vomer": "HP:0410000", + "Abnormality of vomer bone": "HP:0410000", + "Defect of vomer": "HP:0410000", + "obsolete Cleft maxillary alveolus": "HP:0410003", + "obsolete Cleft secondary palate": "HP:0410004", + "Cleft hard palate": "HP:0410005", + "Cleft bony palate": "HP:0410005", + "Cleft of hard palate": "HP:0410005", + "Abnormality of ophthalmic artery": "HP:0410006", + "Ophthalmic artery anomaly": "HP:0410006", + "obsolete Abnormality of cartilage morphology": "HP:0410007", + "Abnormality of the peripheral nervous system": "HP:0410008", + "Abnormality of the somatic nervous system": "HP:0410009", + "Abnormality of somatic nerve plexus": "HP:0410010", + "Abnormality of masticatory muscle": "HP:0410011", + "Abnormality of muscles of mastication": "HP:0410011", + "Abnormal mouth floor morphology": "HP:0410012", + "Abnormality of the floor of mouth": "HP:0410012", + "Abnormality of the mouth floor": "HP:0410012", + "Abnormality of the submandibular region": "HP:0410013", + "Abnormal ganglion morphology": "HP:0410014", + "Abnormality of ganglion": "HP:0410014", + "Abnormal peripheral nervous system ganglion morphology": "HP:0410015", + "Abnormality of ganglion of peripheral nervous system": "HP:0410015", + "Abnormal cranial ganglion morphology": "HP:0410016", + "Abnormality of cranial ganglion": "HP:0410016", + "Otitis externa": "HP:0410017", + "Swimmer's ear": "HP:0410017", + "Recurrent ear infections": "HP:0410018", + "Frequent ear infections": "HP:0410018", + "Epigastric pain": "HP:0410019", + "Epigastrium pain": "HP:0410019", + "Fish odor": "HP:0410020", + "Fishy body odor": "HP:0410020", + "Fishy body odour": "HP:0410020", + "Fishy odor": "HP:0410020", + "Fishy odour": "HP:0410020", + "Musty odor": "HP:0410021", + "Vaginal fish odor": "HP:0410022", + "Abnormal distribution of cell junction proteins in buccal mucosal cells": "HP:0410023", + "Abnormal periodontium morphology": "HP:0410026", + "Abnormality of the periodontium": "HP:0410026", + "Alveolar bone loss around teeth": "HP:0410027", + "Bone loss around teeth": "HP:0410027", + "Recurrent oral herpes": "HP:0410028", + "Recurrent herpes labialis": "HP:0410028", + "Cleft lip": "HP:0410030", + "Cleft of the lip": "HP:0410030", + "Submucous cleft of soft and hard palate": "HP:0410031", + "obsolete Cleft of uvula": "HP:0410032", + "Unilateral alveolar cleft of maxilla": "HP:0410033", + "Bilateral alveolar cleft of maxilla": "HP:0410034", + "Abnormal T cell activation": "HP:0410035", + "Abnormal T lymphocyte activation": "HP:0410035", + "Abnormal T-cell activation": "HP:0410035", + "Abnormal T-lymphocyte activation": "HP:0410035", + "Abnormal liver morphology": "HP:0410042", + "Abnormal neural tube morphology": "HP:0410043", + "Abnormal radial ray morphology": "HP:0410049", + "Abnormality of radial ray": "HP:0410049", + "Deformity of radial ray": "HP:0410049", + "Radial ray abnormality": "HP:0410049", + "Radial ray anomaly": "HP:0410049", + "Radial ray deformity": "HP:0410049", + "Decreased level of 1,5 anhydroglucitol in serum": "HP:0410050", + "Decreased level of 1,5-AG in serum": "HP:0410050", + "Decreased level of 1,5-anhydro-D-glucitol in serum": "HP:0410050", + "Decreased level of 1,5-anhydroglucitol in serum": "HP:0410050", + "Increased level of 3-hydroxy-3-methylglutaric acid in urine": "HP:0410051", + "Increased level of allantoin in serum": "HP:0410052", + "Elevated circulating gamma-aminobutyric acid concentration": "HP:0410053", + "Increased circulating GABA concentration": "HP:0410053", + "Increased level of GABA in serum": "HP:0410053", + "Increased level of gamma-aminobutyric acid in serum": "HP:0410053", + "Decreased circulating GABA concentration": "HP:0410054", + "Decreased circulating gamma-aminobutyric acid concentration": "HP:0410054", + "Decreased level of gamma-aminobutyric acid in serum": "HP:0410054", + "Decreased level of erythritol in urine": "HP:0410055", + "Decreased CSF erythritol concentration": "HP:0410056", + "Decreased level of erythritol in cerebrospinal fluid": "HP:0410056", + "Increased level of D-threitol in plasma": "HP:0410057", + "Increased CSF D-threitol concentration": "HP:0410058", + "Increased level of D-threitol in CSF": "HP:0410058", + "Increased level of D-threitol in cerebrospinal fluid": "HP:0410058", + "Increased level of D-threitol in urine": "HP:0410059", + "Decreased level of D-mannose in urine": "HP:0410060", + "Increased level of galactitol in plasma": "HP:0410061", + "Increased level of galactitol in urine": "HP:0410062", + "Increased level of galactonate in red blood cells": "HP:0410063", + "Increased level of galactonate in RBCs": "HP:0410063", + "Increased level of galactonate in erythrocytes": "HP:0410063", + "Increased level of galactitol in red blood cells": "HP:0410064", + "Increased level of galactitol in erythrocytes": "HP:0410064", + "Increased level of hippuric acid in blood": "HP:0410065", + "Increased level of N-benzoylglycine in blood": "HP:0410065", + "Increased level of hippuric acid in urine": "HP:0410066", + "Increased level of N-benzoylglycine in urine": "HP:0410066", + "Increased level of L-fucose in urine": "HP:0410067", + "obsolete Increased level of L-glutamic acid in blood": "HP:0410068", + "Increased level of propylene glycol in blood": "HP:0410069", + "Increased level of propane-1,2-diol in blood": "HP:0410069", + "Increased level of ribitol in urine": "HP:0410070", + "Increased CSF ribitol concentration": "HP:0410071", + "Increased level of ribitol in cerebrospinal fluid": "HP:0410071", + "Increased level of ribose in urine": "HP:0410072", + "Increased CSF ribose concentration": "HP:0410073", + "Increased level of ribose in CSF": "HP:0410073", + "Increased level of ribose in cerebrospinal fluid": "HP:0410073", + "Increased level of xylitol in urine": "HP:0410074", + "Increased CSF xylitol concentration": "HP:0410075", + "Increased level of xylitol in CSF": "HP:0410075", + "Increased level of xylitol in cerebrospinal fluid": "HP:0410075", + "Increased level of L-pyroglutamic acid in urine": "HP:0410132", + "Elevated urine 5-oxoproline": "HP:0410132", + "Increased level of 5-oxo-L-proline in urine": "HP:0410132", + "Chronic idiopathic urticaria": "HP:0410133", + "CIU": "HP:0410133", + "CSU": "HP:0410133", + "Chronic spontaneous urticaria": "HP:0410133", + "Physical urticaria": "HP:0410134", + "Cold urticaria": "HP:0410135", + "Aquagenic urticaria": "HP:0410136", + "Solar urticaria": "HP:0410137", + "Vibratory urticaria": "HP:0410138", + "Exercise induced anaphylaxis": "HP:0410139", + "Abnormal circulating biotinidase concentration": "HP:0410144", + "Abnormal biotinidase level": "HP:0410144", + "Decreased circulating biotinidase concentration": "HP:0410145", + "Decreased biotinidase level": "HP:0410145", + "Elevated circulating biotinidase concentration": "HP:0410146", + "Increased biotinidase level": "HP:0410146", + "Eosinophilic infiltration in the stomach mucosa": "HP:0410147", + "Eosinophilic gastritis": "HP:0410147", + "Idiopathic anaphylaxis": "HP:0410148", + "Drug-induced anaphylaxis": "HP:0410149", + "Drug induced anaphylaxis": "HP:0410149", + "Eosinophilic infiltration of the esophagus": "HP:0410151", + "Eosinophilic esophagitis": "HP:0410151", + "Eosinophilic microabscess formation in the esophagus": "HP:0410152", + "Eosinophilic micro-abscess formation in the esophagus": "HP:0410152", + "Eosinophilic micro-abscess formation in the oesophagus": "HP:0410152", + "Increased level of methylsuccinic acid in urine": "HP:0410153", + "Increased level of pyrotartaric acid in urine": "HP:0410153", + "Increased level of myristic acid in serum": "HP:0410154", + "Increased level of tetradecanoic acid in serum": "HP:0410154", + "Increased level of N-acetylneuraminic acid in urine": "HP:0410156", + "Increased urinary sialic acid": "HP:0410156", + "Increased level of NANA in urine": "HP:0410156", + "Increased level of Neu5Ac in urine": "HP:0410156", + "Increased level of N-acetylneuraminic acid in fibroblasts": "HP:0410157", + "Increased level of NANA in fibroblasts": "HP:0410157", + "Increased level of Neu5Ac in fibroblasts": "HP:0410157", + "Increased level of sialic acid in fibroblasts": "HP:0410157", + "obsolete Increased urine O-phosphoethanolamine level": "HP:0410158", + "Defective interstrand cross-link repair": "HP:0410166", + "Abnormal morphology of the chest musculature": "HP:0410167", + "Muscle issues in the chest": "HP:0410167", + "Abnormality of the chest musculature": "HP:0410167", + "Abnormality of the back musculature": "HP:0410168", + "Muscle issues in the back": "HP:0410168", + "Abnormal morphology of the shoulder musculature": "HP:0410169", + "Abnormality of the shoulder musculature": "HP:0410169", + "Muscle issues in the shoulder": "HP:0410169", + "Hippocampal atrophy": "HP:0410170", + "Atrophy of the hippocampus": "HP:0410170", + "Degeneration of the hippocampus": "HP:0410170", + "Increased cotinine level": "HP:0410171", + "Blood xenobiotic": "HP:0410172", + "Increased circulating troponin I concentration": "HP:0410173", + "Increased troponin I level in blood": "HP:0410173", + "Increased circulating troponin T concentration": "HP:0410174", + "Increased troponin T level in blood": "HP:0410174", + "Hyperketonemia": "HP:0410175", + "Elevated circulating ketone body concentration": "HP:0410175", + "Increased level of ketone bodies in blood": "HP:0410175", + "Ketonemia": "HP:0410175", + "Abnormal circulating glucose-6-phosphate dehydrogenase concentration": "HP:0410176", + "Abnormal G6PD level": "HP:0410176", + "Abnormal glucose-6-phosphate dehydrogenase level": "HP:0410176", + "Abnormal glucose-6-phosphate dehydrogenase level in blood": "HP:0410177", + "Abnormal G6PD level in blood": "HP:0410177", + "Increased glucose-6-phosphate dehydrogenase level in blood": "HP:0410178", + "Increased G6PD level in blood": "HP:0410178", + "Decreased glucose-6-phosphate dehydrogenase level in blood": "HP:0410179", + "Decreased G6PD level in blood": "HP:0410179", + "Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot": "HP:0410180", + "Abnormal G6PD level in dried blood spot": "HP:0410180", + "Abnormal glucose-6-phosphate dehydrogenase level in DBS": "HP:0410180", + "Increased glucose-6-phosphate dehydrogenase level in dried blood spot": "HP:0410181", + "Increased G6PD level in dried blood spot": "HP:0410181", + "Increased glucose-6-phosphate dehydrogenase level in DBS": "HP:0410181", + "Decreased glucose-6-phosphate dehydrogenase level in dried blood spot": "HP:0410182", + "Decreased G6PD level in dried blood spot": "HP:0410182", + "Decreased glucose-6-phosphate dehydrogenase level in DBS": "HP:0410182", + "Abnormal glucose-6-phosphate dehydrogenase level in leukocytes": "HP:0410183", + "Abnormal G6PD level in leukocytes": "HP:0410183", + "Abnormal glucose-6-phosphate dehydrogenase level in red blood cells": "HP:0410184", + "Abnormal G6PD level in RBCs": "HP:0410184", + "Abnormal G6PD level in red blood cells": "HP:0410184", + "Abnormal glucose-6-phosphate dehydrogenase level in tissue": "HP:0410185", + "Abnormal G6PD level in tissue": "HP:0410185", + "Increased glucose-6-phosphate dehydrogenase level in tissue": "HP:0410186", + "Increased G6PD level in tissue": "HP:0410186", + "Decreased glucose-6-phosphate dehydrogenase level in tissue": "HP:0410187", + "Decreased G6PD level in tissue": "HP:0410187", + "Decreased glucose-6-phosphate dehydrogenase level in red blood cells": "HP:0410188", + "Decreased G6PD level in RBCs": "HP:0410188", + "Decreased G6PD level in red blood cells": "HP:0410188", + "Increased glucose-6-phosphate dehydrogenase level in red blood cells": "HP:0410189", + "Increased G6PD level in RBCs": "HP:0410189", + "Increased G6PD level in red blood cells": "HP:0410189", + "Decreased glucose-6-phosphate dehydrogenase level in leukocytes": "HP:0410190", + "Decreased G6PD level in leukocytes": "HP:0410190", + "Increased glucose-6-phosphate dehydrogenase level in leukocytes": "HP:0410191", + "Increased G6PD level in leukocytes": "HP:0410191", + "obsolete Abnormal uridine diphosphate glucose-4-epimerase level": "HP:0410192", + "Abnormal circulating UDP glucose-4-epimerase concentration": "HP:0410193", + "Abnormal UDP-glucose 4-epimerase activity level in plasma": "HP:0410193", + "Abnormal circulating uridine diphosphate glucose-4-epimerase concentration": "HP:0410193", + "Abnormal uridine diphosphate glucose-4-epimerase level in plasma": "HP:0410193", + "Increased circulating UDP glucose-4-epimerase concentration": "HP:0410194", + "Increased UDP-glucose 4-epimerase level in plasma": "HP:0410194", + "Increased circulating uridine diphosphate glucose-4-epimerase concentration": "HP:0410194", + "Increased uridine diphosphate glucose-4-epimerase level in plasma": "HP:0410194", + "Decreased circulating UDP glucose-4-epimerase concentration": "HP:0410195", + "Decreased UDP glucose-4-epimerase level in plasma": "HP:0410195", + "Decreased UDP-glucose 4-epimerase level in plasma": "HP:0410195", + "Decreased circulating uridine diphosphate glucose-4-epimerase concentration": "HP:0410195", + "Decreased uridine diphosphate glucose-4-epimerase level in plasma": "HP:0410195", + "Abnormal erythrocyte UDP glucose-4-epimerase concentration": "HP:0410196", + "Abnormal UDP-glucose 4-epimerase level in RBCs": "HP:0410196", + "Abnormal UDP-glucose 4-epimerase level in red blood cells": "HP:0410196", + "Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration": "HP:0410196", + "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells": "HP:0410196", + "Increased erythrocyte UDP glucose-4-epimerase concentration": "HP:0410197", + "Increased UDP-glucose 4-epimerase level in RBCs": "HP:0410197", + "Increased UDP-glucose 4-epimerase level in red blood cells": "HP:0410197", + "Increased uridine diphosphate glucose-4-epimerase level in red blood cells": "HP:0410197", + "Decreased erythrocyte UDP glucose-4-epimerase concentration": "HP:0410198", + "Decreased UDP-glucose 4-epimerase level in RBCs": "HP:0410198", + "Decreased UDP-glucose 4-epimerase level in red blood cells": "HP:0410198", + "Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration": "HP:0410198", + "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells": "HP:0410198", + "Increased CSF urate concentration": "HP:0410199", + "Elevated CSF urate concentration": "HP:0410199", + "Increased cerebrospinal fluid urate": "HP:0410199", + "Positive meconium barbiturate test": "HP:0410200", + "Positive hair barbiturate test": "HP:0410201", + "Positive stool barbiturate test": "HP:0410202", + "Positive gastric fluid barbiturate test": "HP:0410203", + "Increased intestinal transit time": "HP:0410204", + "Abnormal circulating nicotinurate concentration": "HP:0410205", + "Abnormal circulating N-nicotinoylglycine level": "HP:0410205", + "Abnormal circulating nicotinurate level": "HP:0410205", + "Increased circulating nicotinurate level": "HP:0410206", + "Increased circulating N-nicotinoylglycine level": "HP:0410206", + "Positive methadone plasma/serum test": "HP:0410207", + "Positive plasma/serum cotinine test": "HP:0410208", + "Folate deficiency in CSF": "HP:0410209", + "Folate deficiency in cerebrospinal fluid": "HP:0410209", + "Abnormal cord blood measurement": "HP:0410210", + "Abnormal blood gas level in cord blood": "HP:0410211", + "Hyperoxemia in cord blood": "HP:0410212", + "High cord blood oxygen level": "HP:0410212", + "Hypoxemia in cord blood": "HP:0410213", + "Low cord blood oxygen level": "HP:0410213", + "Hypercapnia in cord blood": "HP:0410214", + "High cord blood carbon dioxide level": "HP:0410214", + "Hypocapnia in cord blood": "HP:0410215", + "Low cord blood carbon dioxide level": "HP:0410215", + "Abnormal blood 5-methyltetrahydrofolate level": "HP:0410216", + "Abnormal serum methylfolate Level": "HP:0410216", + "Reduced blood 5-methyltetrahydrofolate level": "HP:0410217", + "Reduced serum methylfolate Level": "HP:0410217", + "Hypoplasia of maxilla relative to mandible": "HP:0410218", + "Disorder of maxillary and mandibular dental arch relationship": "HP:0410218", + "Hypoplasia of mandible relative to maxilla": "HP:0410219", + "Disorder of mandibular and maxillary dental arch relationship": "HP:0410219", + "Increased anti-dairy protein IgE antibody level": "HP:0410220", + "Increased anti-dairy IgE antibody level": "HP:0410220", + "Increased anti-animal protein IgE antibody level": "HP:0410221", + "Increased level of anti-animal protein IgE antibody": "HP:0410221", + "Increased anti-seafood IgE antibody level": "HP:0410222", + "Increased level of anti-seafood IgE antibody": "HP:0410222", + "Increased anti-dust mite IgE antibody level": "HP:0410223", + "Increased level of anti-dust mite IgE antibody": "HP:0410223", + "Increased anti-bacteria IgE antibody level": "HP:0410224", + "Increased level of anti-bacteria IgE antibody": "HP:0410224", + "Increased anti-drug IgE antibody level": "HP:0410225", + "Increased level of anti-drug IgE antibody": "HP:0410225", + "Increased anti-feather IgE antibody level": "HP:0410226", + "Increased anti-food allergen IgE antibody level": "HP:0410227", + "Increased level of anti-food allergen IgE antibody": "HP:0410227", + "Increased anti-plant based food allergen IgE antibody level": "HP:0410228", + "Increased level of anti-plant based food allergen IgE antibody": "HP:0410228", + "Increased anti-gluten IgE antibody level": "HP:0410229", + "Increased level of anti-gluten IgE antibody": "HP:0410229", + "Increased anti-nut food product IgE antibody level": "HP:0410230", + "Increased anti-egg IgE antibody level": "HP:0410231", + "Increased anti-fungi IgE antibody level": "HP:0410232", + "Increased anti-fungal IgE antibody level": "HP:0410232", + "Increased anti-fungus IgE antibody level": "HP:0410232", + "Increased anti-meat allergen IgE antibody level": "HP:0410233", + "Increased anti-parasite IgE antibody level": "HP:0410234", + "Increased anti-insect IgE antibody level": "HP:0410235", + "Increased anti-venom IgE antibody level": "HP:0410236", + "Increased anti-plant product IgE antibody level": "HP:0410238", + "Positive urine norcotinine test": "HP:0410239", + "Abnormal circulating IgA concentration": "HP:0410240", + "Abnormal IgA level in blood": "HP:0410240", + "Abnormal circulating IgA level": "HP:0410240", + "Abnormal circulating IgE concentration": "HP:0410241", + "Abnormal IgE level in blood": "HP:0410241", + "Abnormal circulating IgE level": "HP:0410241", + "Abnormal circulating IgG concentration": "HP:0410242", + "Abnormal IgG level in blood": "HP:0410242", + "Abnormal circulating IgG level": "HP:0410242", + "Abnormal circulating IgM concentration": "HP:0410243", + "Abnormal IgM level in blood": "HP:0410243", + "Abnormal circulating IgM level": "HP:0410243", + "Abnormal circulating IgD concentration": "HP:0410244", + "Abnormal IgD level in blood": "HP:0410244", + "Abnormal circulating IgD level": "HP:0410244", + "Decreased circulating IgD concentration": "HP:0410245", + "Decreased IgD": "HP:0410245", + "Decreased IgD in blood": "HP:0410245", + "Decreased circulating IgD": "HP:0410245", + "IgD deficiency": "HP:0410245", + "Increased circulating IgD concentration": "HP:0410246", + "Elevated IgD": "HP:0410246", + "Elevated serum IgD": "HP:0410246", + "IgD hypergammaglobulinemia": "HP:0410246", + "Increased IgD level": "HP:0410246", + "Increased circulating IgD level": "HP:0410246", + "Increased levels of IgD": "HP:0410246", + "Increased serum IgD": "HP:0410246", + "Increased anti-animal dander IgE antibody level": "HP:0410247", + "Increased level of anti-dander IgE antibody": "HP:0410247", + "Increased anti-house dust mite IgE antibody level": "HP:0410248", + "Increased anti-house dust IgE antibody level": "HP:0410248", + "Increased level of anti-house dust IgE antibody": "HP:0410248", + "Increased anti-alpha-gal IgE antibody level": "HP:0410249", + "Increased anti-galactose-alpha-1, 3 galactose IgE antibody level": "HP:0410249", + "Abnormal L-selectin shedding": "HP:0410251", + "Chronic neutropenia": "HP:0410252", + "Myeloid maturation arrest": "HP:0410253", + "Myeloid maturation arrest in bone marrow": "HP:0410253", + "Cyclic neutropenia in myeloid maturation arrest in bone marrow": "HP:0410254", + "Transient neutropenia": "HP:0410255", + "Infection associated neutropenia": "HP:0410256", + "Neutrophilia in presence of infection": "HP:0410257", + "Neutrophilia in absence of infection": "HP:0410258", + "Hepatopulmonary fusion": "HP:0410259", + "Hepatic pulmonary fusion": "HP:0410259", + "Asymmetrical gluteal crease": "HP:0410260", + "Asymmetrical buttock crease": "HP:0410260", + "Asymmetrical gluteal sulcus": "HP:0410260", + "Asymmetrical horizontal gluteal crease": "HP:0410260", + "Wide space between 4th and 5th toe": "HP:0410261", + "Wide space between the 4th and 5th toe": "HP:0410261", + "Lower cranial nerve dysfunction": "HP:0410262", + "Abnormal lower cranial nerve function": "HP:0410262", + "Brain imaging abnormality": "HP:0410263", + "Abnormal brain imaging": "HP:0410263", + "Subglottic hemangioma": "HP:0410264", + "Airway hemangioma": "HP:0410264", + "Supraglottic hemangioma": "HP:0410265", + "Visceral hemangioma": "HP:0410266", + "Intestinal hemangioma": "HP:0410267", + "Bowel hemangioma": "HP:0410267", + "Intestinal hemangiomas": "HP:0410267", + "Spleen hemangioma": "HP:0410268", + "Splenic hemangioma": "HP:0410268", + "Labial hemangioma": "HP:0410269", + "Esophageal hemangioma": "HP:0410270", + "Laryngeal hemangioma": "HP:0410271", + "Throat hemangioma": "HP:0410271", + "Vulvar hemangioma": "HP:0410272", + "Retropharyngeal hemangioma": "HP:0410273", + "Paraspinal hemangioma": "HP:0410274", + "Lumbosacral hemangioma": "HP:0410275", + "Lumbar/sacral hemangioma": "HP:0410275", + "Supraumbilical raphe": "HP:0410276", + "Midline supraumbilical raphe": "HP:0410276", + "Sternal pit": "HP:0410277", + "Pituitary gland cyst": "HP:0410278", + "Cyst of the pituitary gland": "HP:0410278", + "Atrophic pituitary gland": "HP:0410279", + "Atrophic pituitary": "HP:0410279", + "Pituitary gland atrophy": "HP:0410279", + "Pediatric onset": "HP:0410280", + "Onset before adulthood": "HP:0410280", + "Paediatric onset": "HP:0410280", + "Dyspepsia": "HP:0410281", + "Indigestion": "HP:0410281", + "Abnormal circulating amylase concentration": "HP:0410282", + "Abnormal circulating amylase level": "HP:0410282", + "Positive blood acetaminophen test": "HP:0410283", + "Positive blood Tylenol test": "HP:0410283", + "Positive blood paracetamol test": "HP:0410283", + "Positive norpropoxyphene blood test": "HP:0410284", + "Positive meconium methadone test": "HP:0410285", + "Positive blood molindone test": "HP:0410286", + "Positive blood Moban test": "HP:0410286", + "Intrathoracic hemangioma": "HP:0410287", + "Chest hemangioma": "HP:0410287", + "Hyperamylasemia": "HP:0410288", + "Increased circulating amylase level": "HP:0410288", + "Hypoamylasemia": "HP:0410289", + "Decreased circulating amylase level": "HP:0410289", + "Positive urine norpropoxyphene test": "HP:0410290", + "Negativism": "HP:0410291", + "Abnormal isohemagglutinin level": "HP:0410292", + "Abnormal level of natural antibody to blood group agents": "HP:0410292", + "Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)": "HP:0410292", + "Absent isohemagglutinin level": "HP:0410293", + "Absent natural antibody to blood group agents": "HP:0410293", + "Complete or near-complete absence of isohemagglutinins": "HP:0410293", + "Decreased specific antibody response to protein vaccine": "HP:0410294", + "Complete or near-complete absence of specific antibody response to tetanus vaccine": "HP:0410295", + "Complete or near-complete absence of specific antibody response to hepatitis B vaccine": "HP:0410296", + "Partial absence of specific antibody response to tetanus vaccine": "HP:0410297", + "Partial absence of specific antibody response to hepatitis B vaccine": "HP:0410298", + "Decreased specific antibody response to polysaccharide vaccine": "HP:0410299", + "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine": "HP:0410300", + "Partial absence of specific antibody response to unconjugated pneumococcus vaccine": "HP:0410301", + "Decreased specific antibody response to protein-conjugated polysaccharide vaccine": "HP:0410302", + "Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine": "HP:0410303", + "Complete or near-complete absence of specific antibody response to meningococcus vaccine": "HP:0410304", + "Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine": "HP:0410305", + "Partial absence of specific antibody response to meningococcus vaccine": "HP:0410306", + "Positive stool methadone test": "HP:0410307", + "Decreased specific antibody response to infection": "HP:0410308", + "Alpha-aminoadipic aciduria": "HP:0410309", + "2-aminoadipic aciduria": "HP:0410309", + "Abnormality of neutrophil morphology in CSF": "HP:0410310", + "Abnormality of neutrophil morphology in cerebrospinal fluid": "HP:0410310", + "Hyposegmentation of neutrophil nuclei in CSF": "HP:0410311", + "Hyposegmentation of neutrophil nuclei in cerebrospinal fluid": "HP:0410311", + "Hypersegmentation of neutrophil nuclei in CSF": "HP:0410312", + "Hypersegmentation of neutrophil nuclei in cerebrospinal fluid": "HP:0410312", + "Abnormal urinary 1-methylhistidine concentration": "HP:0410313", + "Decreased urinary 1-methylhistidine": "HP:0410314", + "Increased urinary 1-methylhistidine": "HP:0410315", + "1-Methylhistidinuria": "HP:0410315", + "Abnormal urinary 3-methylhistidine level": "HP:0410316", + "Increased urinary 3-methylhistidine": "HP:0410317", + "3-Methylhistidinuria": "HP:0410317", + "Decreased urinary 3-methylhistidine": "HP:0410318", + "Alpha-gal allergy": "HP:0410319", + "Allergy to alpha-gal": "HP:0410319", + "IgE-mediated alpha-gal allergy": "HP:0410319", + "Immunoglobulin E-mediated alpha-gal allergy": "HP:0410319", + "Animal protein allergy": "HP:0410320", + "Allergy to animal proteins": "HP:0410320", + "IgE-mediated animal protein allergy": "HP:0410320", + "Immunoglobulin E-mediated animal protein allergy": "HP:0410320", + "Animal dander allergy": "HP:0410321", + "Allergy to animal dander": "HP:0410321", + "IgE-mediated animal dander allergy": "HP:0410321", + "Immunoglobulin E-mediated animal dander allergy": "HP:0410321", + "Bacteria allergy": "HP:0410322", + "Allergy to bacteria": "HP:0410322", + "IgE-mediated bacteria allergy": "HP:0410322", + "Immunoglobulin E-mediated bacteria allergy": "HP:0410322", + "Drug allergy": "HP:0410323", + "Allergy to drugs": "HP:0410323", + "IgE-mediated drug allergy": "HP:0410323", + "Immunoglobulin E-mediated drug allergy": "HP:0410323", + "Dust mite allergy": "HP:0410324", + "Allergy to dust mites": "HP:0410324", + "House dust mite allergy": "HP:0410324", + "IgE-mediated dust mite allergy": "HP:0410324", + "Immunoglobulin E-mediated dust mite allergy": "HP:0410324", + "obsolete House dust mite allergy": "HP:0410325", + "Feather allergy": "HP:0410326", + "Allergy to feathers": "HP:0410326", + "IgE-mediated feather allergy": "HP:0410326", + "Immunoglobulin E-mediated feather allergy": "HP:0410326", + "Dairy allergy": "HP:0410327", + "Allergy to dairy": "HP:0410327", + "IgE-mediated dairy allergy": "HP:0410327", + "Immunoglobulin E-mediated dairy allergy": "HP:0410327", + "Egg allergy": "HP:0410328", + "Allergy to eggs": "HP:0410328", + "IgE-mediated egg allergy": "HP:0410328", + "Immunoglobulin E-mediated egg allergy": "HP:0410328", + "Gluten allergy": "HP:0410329", + "Allergy to gluten": "HP:0410329", + "IgE-mediated gluten allergy": "HP:0410329", + "Immunoglobulin E-mediated gluten allergy": "HP:0410329", + "Meat allergen allergy": "HP:0410330", + "Allergy to meat allergens": "HP:0410330", + "IgE-mediated meat allergen allergy": "HP:0410330", + "Immunoglobulin E-mediated meat allergen allergy": "HP:0410330", + "Meat allergy": "HP:0410330", + "Nut food product allergy": "HP:0410331", + "Allergy to nut food products": "HP:0410331", + "IgE-mediated nut food product allergy": "HP:0410331", + "Immunoglobulin E-mediated nut food product allergy": "HP:0410331", + "Nut allergy": "HP:0410331", + "Plant based food allergy": "HP:0410332", + "Allergy to plant based food allergens": "HP:0410332", + "IgE-mediated plant based food allergen allergy": "HP:0410332", + "Immunoglobulin E-mediated plant based food allergen allergy": "HP:0410332", + "Seafood allergy": "HP:0410333", + "Allergy to seafood": "HP:0410333", + "IgE-mediated seafood allergy": "HP:0410333", + "Immunoglobulin E-mediated seafood allergy": "HP:0410333", + "Fungi allergy": "HP:0410334", + "Allergy to fungi": "HP:0410334", + "Fungal allergy": "HP:0410334", + "Fungus allergy": "HP:0410334", + "IgE-mediated fungi allergy": "HP:0410334", + "Immunoglobulin E-mediated fungi allergy": "HP:0410334", + "Insect allergy": "HP:0410335", + "Allergy to insects": "HP:0410335", + "IgE-mediated insect allergy": "HP:0410335", + "Immunoglobulin E-mediated insect allergy": "HP:0410335", + "Venom allergy": "HP:0410336", + "Allergy to venom": "HP:0410336", + "IgE-mediated venom allergy": "HP:0410336", + "Immunoglobulin E-mediated venom allergy": "HP:0410336", + "Parasite allergy": "HP:0410337", + "Allergy to parasites": "HP:0410337", + "IgE-mediated parasite allergy": "HP:0410337", + "Immunoglobulin E-mediated parasite allergy": "HP:0410337", + "Plant product allergy": "HP:0410338", + "Allergy to plant products": "HP:0410338", + "IgE-mediated plant product allergy": "HP:0410338", + "Immunoglobulin E-mediated plant product allergy": "HP:0410338", + "Insect bite allergy": "HP:0410339", + "Allergy to insect bites": "HP:0410339", + "IgE-mediated insect bite allergy": "HP:0410339", + "Immunoglobulin E-mediated insect bite allergy": "HP:0410339", + "Focal epithelial hyperplasia of oral mucosa": "HP:0410340", + "Focal epithelial hyperplasia of the lining of mouth": "HP:0410340", + "Oral mucosa epithelial hyperplasia": "HP:0410340", + "Abnormal circulating heparan sulfate level": "HP:0410341", + "Abnormal circulating heparan sulphate level": "HP:0410341", + "Abnormality of the concentration of heparan sulfate in the blood": "HP:0410341", + "Abnormality of the concentration of heparan sulphate in the blood": "HP:0410341", + "Increased circulating heparan sulfate level": "HP:0410342", + "Increased blood heparan sulfate concentration": "HP:0410342", + "Increased blood heparan sulphate concentration": "HP:0410342", + "Increased circulating heparan sulphate level": "HP:0410342", + "Decreased circulating heparan sulfate level": "HP:0410343", + "Decreased blood heparan sulfate concentration": "HP:0410343", + "Decreased blood heparan sulphate concentration": "HP:0410343", + "Decreased circulating heparan sulphate level": "HP:0410343", + "Shortened O-fucosylated glycan on properdin": "HP:0410344", + "Presence of terminal O-fucose glycans on properdin": "HP:0410344", + "Increased urinary polyhexose": "HP:0410345", + "Increased polyhexose concentration in urine": "HP:0410345", + "Increased urinary galactosylated oligosaccharide": "HP:0410346", + "Increased concentration of galactosylated oligosaccharides in urine": "HP:0410346", + "Increased urinary high-mannose-type oligosaccharide": "HP:0410347", + "Increased concentration of high-mannose-type oligosaccharides in urine": "HP:0410347", + "Increased urinary multiantennary sialylated oligosaccharide": "HP:0410348", + "Increase concentration of multiantennary sialylated oligosaccharides in urine": "HP:0410348", + "Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level": "HP:0410349", + "Increased urinary fucosylated oligosaccharide": "HP:0410350", + "Increased concentration of fucosylated oligosaccharides in urine": "HP:0410350", + "Abnormal complex N-glycan level": "HP:0410351", + "Abnormal concentration of complex N-glycans on glycoproteins": "HP:0410351", + "Increased complex N-glycan level": "HP:0410352", + "Increased concentration of complex N-glycans on glycoproteins": "HP:0410352", + "Decreased complex N-glycan level": "HP:0410353", + "Increased truncated complex N-glycans on glycoproteins": "HP:0410353", + "Increased sialylated N-glycan level": "HP:0410354", + "Increased concentration of sialylated N-glycans on glycoproteins": "HP:0410354", + "Decreased sialylated N-glycan level": "HP:0410355", + "Decreased concentration of sialylated N-glycans on glycoproteins": "HP:0410355", + "Abnormal high-mannose N-glycan level": "HP:0410356", + "Abnormal high-mannose N-glycans on glycoprotein concentration": "HP:0410356", + "Increased high-mannose N-glycan level": "HP:0410357", + "Increased high-mannose N-glycans on glycoprotein concentration": "HP:0410357", + "Decreased high-mannose N-glycan level": "HP:0410358", + "Decreased high-mannose N-glycans on glycoprotein concentration": "HP:0410358", + "Abnormal core 1 O-glycan level": "HP:0410359", + "Abnormal concentration of T-antigen": "HP:0410359", + "Increased core 1 O-glycan level": "HP:0410360", + "Increased T-antigen concentration": "HP:0410360", + "Decreased core 1 O-glycan level": "HP:0410361", + "Decreased T-antigen concentration": "HP:0410361", + "Decreased O-mannosyl glycans on alpha-dystroglycan": "HP:0410362", + "Reduced O-mannosyl glycans on alpha-dystroglycan": "HP:0410362", + "Increased monosialylated core 1 O-glycan level": "HP:0410363", + "Increased sialyl T-antigen concentration": "HP:0410363", + "Decreased monosialylated core 1 O-glycan level": "HP:0410364", + "Decreased sialyl T-antigen concentration": "HP:0410364", + "Increased disialylated core 1 O-glycan level": "HP:0410365", + "Increased disialyl T-antigen concentration": "HP:0410365", + "Increased globoside Gb4 level": "HP:0410366", + "Increased globoside Gb4 concentration": "HP:0410366", + "Increased hepatitis A virus antibody level": "HP:0410367", + "Increased globoside Gb3 level": "HP:0410368", + "Increased globoside Gb3 concentration": "HP:0410368", + "Increased hepatitis B virus antibody level": "HP:0410369", + "Absence of ganglioside GM3": "HP:0410370", + "Increased hepatitis C virus antibody level": "HP:0410371", + "Increased Tn-antigen level": "HP:0410372", + "Increased O-GalNac on glycoprotein concentration": "HP:0410372", + "Abnormal proportion of naive CD4 T cells": "HP:0410373", + "Abnormal proportion of CD4+CD45RA+ cells": "HP:0410373", + "Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells": "HP:0410373", + "Abnormal proportion of naive CD8 T cells": "HP:0410374", + "Increased proportion of naive CD4 T cells": "HP:0410375", + "Elevated proportion of naive CD4 T cells": "HP:0410375", + "Increased proportion of CD4+CD45RA+ cells": "HP:0410375", + "Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells": "HP:0410375", + "Increased proportion of naive CD8 T cells": "HP:0410376", + "Elevated proportion of naive CD8 T cells": "HP:0410376", + "Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells": "HP:0410376", + "Decreased proportion of naive CD8 T cells": "HP:0410377", + "Reduced proportion of naive CD8 T cells": "HP:0410377", + "Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells": "HP:0410377", + "Decreased proportion of naive CD4 T cells": "HP:0410378", + "Decreased proportion of CD4+CD45RA+ cells": "HP:0410378", + "Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells": "HP:0410378", + "Reduced proportion of naive CD4 T cells": "HP:0410378", + "Abnormal proportion of CD4-positive, alpha-beta memory T cells": "HP:0410379", + "Abnormal proportion of CD8-positive, alpha-beta memory T cells": "HP:0410380", + "Abnormal proportion of central memory CD4-positive, alpha-beta T cells": "HP:0410381", + "obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells": "HP:0410382", + "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells": "HP:0410383", + "Abnormal proportion of central memory CD8-positive, alpha-beta T cells": "HP:0410384", + "Decreased proportion of CD8-positive, alpha-beta memory T cells": "HP:0410385", + "Decreased proportion of CD4-positive, alpha-beta memory T cells": "HP:0410386", + "obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells": "HP:0410387", + "Decreased proportion of central memory CD4-positive, alpha-beta T cells": "HP:0410388", + "Decreased proportion of CD4+ central memory cells": "HP:0410388", + "Decreased proportion of CD4-positive central memory cells": "HP:0410388", + "Decreased proportion of central memory CD4+, alpha-beta T cell": "HP:0410388", + "Reduced proportion of CD4+ central memory cells": "HP:0410388", + "Decreased proportion of central memory CD8-positive, alpha-beta T cells": "HP:0410389", + "Decreased proportion of effector memory CD8-positive, alpha-beta T cells": "HP:0410390", + "Increased proportion of CD4-positive, alpha-beta memory T cells": "HP:0410391", + "Increased proportion of CD8-positive, alpha-beta memory T cells": "HP:0410392", + "Increased proportion of central memory CD4-positive, alpha-beta T cells": "HP:0410393", + "Elevated proportion central memory CD4-positive, alpha-beta T cells": "HP:0410393", + "Elevated proportion of CD4+ central memory cells": "HP:0410393", + "Increased proportion of CD4+ central memory cells": "HP:0410393", + "Increased proportion of central memory CD4+, alpha-beta T cell": "HP:0410393", + "Increased proportion of effector memory CD4-positive, alpha-beta T cells": "HP:0410394", + "Increased proportion of effector memory CD8-positive, alpha-beta T cells": "HP:0410395", + "Increased proportion of central memory CD8-positive, alpha-beta T cells": "HP:0410396", + "Bronchiolectasis": "HP:0410397", + "Bronchiolectasia": "HP:0410397", + "Positive blood lead test": "HP:0410399", + "Increased blood lead level": "HP:0410399", + "Absent sebaceous glands": "HP:0410400", + "Absence of sebaceous glands": "HP:0410400", + "Worse in evening": "HP:0410401", + "Abnormal frontal bone morphology": "HP:0430000", + "Abnormality of the bone of the forehead": "HP:0430000", + "Abnormality of the frontal bone": "HP:0430000", + "Abnormal morphology of frontal bone": "HP:0430000", + "Anomaly of the frontal bone": "HP:0430000", + "Deformity of the frontal bone": "HP:0430000", + "Malformation of the frontal bone": "HP:0430000", + "Abnormal lacrimal bone morphology": "HP:0430002", + "Anomaly of the lacrimal bone": "HP:0430002", + "Deformity of the lacrimal bone": "HP:0430002", + "Malformation of the lacrimal bone": "HP:0430002", + "Abnormal palatine bone morphology": "HP:0430003", + "Abnormality of the palatine bone": "HP:0430003", + "Anomaly of the palatine bone": "HP:0430003", + "Deformity of the palatine bone": "HP:0430003", + "Malformation of the palatine bone": "HP:0430003", + "Frontomalar faciosynostosis": "HP:0430004", + "Abnormal ethmoid bone morphology": "HP:0430005", + "Abnormality of ethmoid bone": "HP:0430005", + "Anomaly of the ethmoid bone": "HP:0430005", + "Deformity of the ethmoid bone": "HP:0430005", + "Malformation of the ethmoid bone": "HP:0430005", + "Ectopic cilia of eyelid": "HP:0430006", + "Symblepharon": "HP:0430007", + "Eyelid adhesion to globe of eye": "HP:0430007", + "Eyelid stuck to eyeball": "HP:0430007", + "Accessory eyelid": "HP:0430008", + "Extra eyelid": "HP:0430008", + "Double eyelid": "HP:0430008", + "Hypoplasia of eyelid": "HP:0430009", + "Small eyelid": "HP:0430009", + "Decreased size of eyelid": "HP:0430009", + "Hypoplasia of the eyelid": "HP:0430009", + "Hypoplastic eyelid": "HP:0430009", + "Underdevelopment of eyelid": "HP:0430009", + "Short eyelid": "HP:0430009", + "Microblepharia": "HP:0430010", + "Abnormally small eyelid": "HP:0430010", + "Defect of palpebral conjunctiva": "HP:0430011", + "Incomplete ossification of palatine bone": "HP:0430012", + "Incomplete calcification of palatine bone": "HP:0430012", + "Incomplete mineralization of palatine bone": "HP:0430012", + "Incomplete formation of palatine bone": "HP:0430012", + "Absent palatine bone ossification": "HP:0430013", + "Absence of palatine bone calcification": "HP:0430013", + "Absence of palatine bone mineralization": "HP:0430013", + "Absence of palatine bone formation": "HP:0430013", + "Abnormality of musculature of soft palate": "HP:0430014", + "Abnormality of soft palate muscles": "HP:0430014", + "Abnormal morphology of musculature of pharynx": "HP:0430015", + "Abnormality of muscles of the pharynx": "HP:0430015", + "Abnormality of musculature of pharynx": "HP:0430015", + "Abnormality of pharyngeal musculature": "HP:0430015", + "Abnormality of pharynx musculature": "HP:0430015", + "Abnormality of tensor veli palatini muscle": "HP:0430016", + "Abnormality of uvular muscle": "HP:0430017", + "Abnormality of musculus uvulae": "HP:0430017", + "Abnormality of nasal musculature": "HP:0430018", + "Abnormality of muscle of nose": "HP:0430018", + "Abnormality of musculature of the nose": "HP:0430018", + "Abnormality of muscle of facial expression": "HP:0430019", + "Abnormality of musculature of facial expression": "HP:0430019", + "Abnormality of levator labii superioris alaeque nasi muscle": "HP:0430020", + "Abnormal common carotid artery morphology": "HP:0430021", + "Abnormality of the common carotid artery": "HP:0430021", + "Abnormality of the sphenoid sinus": "HP:0430022", + "Abnormality of the sphenoidal sinus": "HP:0430022", + "Abnormality of the maxillary sinus": "HP:0430023", + "Abnormality of the antrum of Highmore": "HP:0430023", + "Abnormality of the maxillary antrum": "HP:0430023", + "Abnormality of the upper jaw sinus": "HP:0430023", + "Abnormality of external jugular vein": "HP:0430024", + "Bilateral facial palsy": "HP:0430025", + "Bilateral facial muscle paralysis": "HP:0430025", + "Bilateral facial muscle weakness": "HP:0430025", + "Bilateral facial paralysis": "HP:0430025", + "Paralysis of both sides of the face": "HP:0430025", + "Weakness of both sides of the face": "HP:0430025", + "obsolete Abnormality of the shape of the midface": "HP:0430026", + "Hyperplasia of the maxilla": "HP:0430028", + "Big maxilla": "HP:0430028", + "Big upper jaw": "HP:0430028", + "Hyperplasia of upper jaw": "HP:0430028", + "Increased size of maxilla": "HP:0430028", + "Increased size of upper jaw": "HP:0430028", + "Large maxilla": "HP:0430028", + "Large upper jaw": "HP:0430028", + "Maxillary excess": "HP:0430028", + "Maxillary hyperplasia": "HP:0430028", + "Maxillary macrognathia": "HP:0430028", + "Maxillary prominence": "HP:0430028", + "Prominent maxilla": "HP:0430028", + "Prominent upper jaw": "HP:0430028", + "Upper jaw bone excess": "HP:0430028", + "Upper jaw excess": "HP:0430028", + "Increased projection of maxilla": "HP:0430028", + "Increased projection of upper jaw": "HP:0430028", + "Hypertrophy of maxilla": "HP:0430028", + "Hypertrophy of upper jaw": "HP:0430028", + "Maxillary prognathia": "HP:0430028", + "Prognathia of the upper jaw": "HP:0430028", + "Hyperplasia of the premaxilla": "HP:0430029", + "Hyperplasia of the intermaxillary bone": "HP:0430029", + "Hyperplasia of the primary palate bone": "HP:0430029", + "Increased size of premaxilla": "HP:0430029", + "Increased size of the primary palate bone": "HP:0430029", + "Large premaxilla": "HP:0430029", + "Large primary palate bone": "HP:0430029", + "Premaxillary excess": "HP:0430029", + "Primary palate bone excess": "HP:0430029", + "Positive infectious agent test": "HP:0430030", + "Aqueous humor viral DNA positivity": "HP:0430031", + "Electronic cigarette exposure history": "HP:0430032", + "Electronic cigarette or vape use": "HP:0430032", + "Vaping": "HP:0430032", + "Gottron sign": "HP:0430033", + "Hypertension resistant to conventional therapy": "HP:0430034", + "Resistant hypertension": "HP:0430034", + "Tibiofibular interosseous membrane calcification": "HP:0430035", + "Calcification of the interosseous membrane of leg": "HP:0430035", + "Calcification of the middle tibiofibular joint": "HP:0430035", + "Supracondylar elbow fracture": "HP:0430036", + "Abnormal alcohol consumption": "HP:0430037", + "Thoracic lordosis": "HP:0430043", + "Radiation into left arm": "HP:0430044", + "Radiation into right arm": "HP:0430045", + "Small joint hypermobilty": "HP:0430046", + "Large joint hypermobilty": "HP:0430047", + "Intracranial calcification": "HP:0430048", + "Intracranial calcifications": "HP:0430048", + "Brain calcification": "HP:0430048", + "Anti-thyroid antibody positivity": "HP:0430050", + "Antithyroid antibody positivity": "HP:0430050", + "Bloodstream pathogen-specific antibody positivity": "HP:0430051", + "Anti-SARS-CoV-2 coronavirus antibody positivity": "HP:0430052", + "Anti-West Nile virus antibody positivity": "HP:0430053", + "Anti-microfilaria antibody positivity": "HP:0430054", + "Anti-trypanosoma cruzi antibody positivity": "HP:0430055", + "Anti-chikungunya virus antibody positivity": "HP:0430056", + "Anti-chlamydia psittaci antibody positivity": "HP:0430057", + "Anti-herpes simplex antibody positivity": "HP:0430058", + "HSV antibody titer high in blood": "HP:0430058", + "Bloodstream virus-specific antibody positivity": "HP:0430059", + "Bloodstream parasite-specific antibody positivity": "HP:0430060", + "Bloodstream antibacterial antibody positivity": "HP:0430061", + "Anti-Japanese encephalitis virus-specific antibody positivity": "HP:0430062", + "Anti-chlamydia trachomatis-specific antibody positivity": "HP:0430063", + "Anti-Epstein-Barr virus-specific antibody positivity": "HP:0430064", + "Anti-babesia-specific antibody positivity": "HP:0430065", + "Anti-Zikavirus-specific antibody positivity": "HP:0430066", + "Positive bloodstream nucleic acid pathogen test": "HP:0430067", + "Positive microfilaria PCR test in the blood circulation": "HP:0430068", + "Positive JC-virus PCR test in the blood circulation": "HP:0430069", + "JC virus PCR in blood positive": "HP:0430069", + "Placenta previa": "HP:0430070", + "Placenta praevia": "HP:0430070", + "Abnormal circulating organic compound concentration": "HP:0430071", + "Abnormal circulating beta-carotene concentration": "HP:0430072", + "Decreased circulating beta-carotene concentration": "HP:0430073", + "Increased circulating beta-carotene concentration": "HP:0430074", + "Mammary blocked duct": "HP:0430075", + "Galactocele": "HP:0430075", + "Lactation duct obstruction": "HP:0430075", + "Bloodstream antifungal antibody positivity": "HP:0430076", + "Anti-coccidioidal antibody positivity": "HP:0430077", + "Coccidioidal antibodies present in blood": "HP:0430077", + "Anti-cryptococcal antibody positivity": "HP:0430078", + "Anti-mycoplasma antibody positivity": "HP:0430079", + "Anti-rickettsial antibody positivity": "HP:0430080", + "Anti-Bartonella henselae antibody positivity": "HP:0430081", + "Bartonella henselae antibody titer high in blood": "HP:0430081", + "Anti-Dengue virus antibody positivity": "HP:0430082", + "Dengue antibody titer high in blood": "HP:0430082", + "Anti-arbovirus antibody positivity": "HP:0430083", + "Anti-lymphocytic choriomeningitis antibody positivity": "HP:0430084", + "Lymphocytic choriomeningitis virus antibody titer high in blood": "HP:0430084", + "Anti-varicella-zoster antibody positivity": "HP:0430085", + "Varicella-zoster antibody titer high in blood": "HP:0430085", + "Anti-rubella antibody positivity": "HP:0430086", + "Rubella antibody titer high in blood": "HP:0430086", + "Anti-cytomegalovirus antibody positivity": "HP:0430087", + "CMV antibody titer high in blood": "HP:0430087", + "Anti-measles antibody positivity": "HP:0430088", + "Measles antibody titer high in blood": "HP:0430088", + "Anti-schistosoma antibody positivity": "HP:0430089", + "Schistosoma antibody titer high in blood": "HP:0430089", + "Anti-Powassan virus antibody positivity": "HP:0430090", + "Anti-Powassan encephalitis virus antibody positivity": "HP:0430090", + "Powassan encephalitis antibody titer high in blood": "HP:0430090", + "Marker expression": "HP:0430091", + "BCL2 expression": "HP:0430092", + "BCL6 expression": "HP:0430093", + "CD5 expression": "HP:0430094", + "CD10 expression": "HP:0430095", + "CD23 expression": "HP:0430096", + "CD38 expression": "HP:0430097", + "CD45 expression": "HP:0430098", + "Cyclin D1 expression": "HP:0430099", + "FMC7 expression": "HP:0430100", + "CD19 expression": "HP:0430101", + "CD20 expression": "HP:0430102", + "Past surgical history": "HP:0430103", + "Abnormal superficial temporal artery morphology": "HP:0430104", + "Skip lesions on temporal artery biopsy": "HP:0430105", + "Abnormal brain-evoked potentials": "HP:0430106", + "Sputum infectious agent": "HP:0430107", + "Positive Mycobacterium avium sputum culture": "HP:0430108", + "Positive bloodstream infectious agent antigen test": "HP:0430109", + "Positive bloodstream Cysticercosis antigen test": "HP:0430110", + "Klazomania": "HP:0430111", + "Coprolalia": "HP:0430112", + "Continuous involuntary vocalizations": "HP:0430113", + "Aplasia/hypoplasia of the uterine cervix": "HP:0430114", + "Cervical hypoplasia": "HP:0430115", + "Primary peritoneal serous papillary adenocarcinoma": "HP:0430116", + "Positive skin infectious agent test": "HP:0430117", + "Positive skin fungus test": "HP:0430118", + "Positive KOH test for fungi": "HP:0430118", + "Nasal secretion eosinophilia": "HP:0430119", + "Eosinophils predominate in nasal discharge": "HP:0430119", + "Nasal secretion neutrophilia": "HP:0430120", + "Seminal vesicle agenesis": "HP:0430121", + "Absent seminal vesicles": "HP:0430121", + "Head impulse test has corrective saccade": "HP:0430122", + "Positive CSF infectious agent test": "HP:0430123", + "Positive CSF toxoplasma gondii nucleic acid test": "HP:0430124", + "Positive CSF toxoplasma gondii PCR": "HP:0430124", + "Elevated circulating plasminogen activator inhibitor 1 activity": "HP:0430125", + "Abnormal circulating plasminogen activator inhibitor 1 activity": "HP:0430126", + "Brain localization": "HP:0430127", + "Frontal cortical localization": "HP:0430128", + "Posterior fossa localization": "HP:0430129", + "Subcortical localization": "HP:0430130", + "Parietal cortex localization": "HP:0430131", + "Occipital cortex localization": "HP:0430132", + "Tobacco use history": "HP:0430133", + "Bartholin cyst": "HP:0430134", + "Bartholin duct cyst": "HP:0430134", + "Vulvar cyst": "HP:0430134", + "Abnormal circulating hepatic transaminase concentration": "HP:0430135", + "Abnormal circulating hepatic transaminase activity": "HP:0430135", + "Reduced circulating aspartate aminotransferase concentration": "HP:0430136", + "Elevated urine succinic acid level": "HP:0430137", + "Succinic acid high in urine": "HP:0430137", + "Positive CSF varicella zoster virus nucleic acid test": "HP:0430138", + "Positive CSF varicella zoster virus PCR": "HP:0430138", + "Varicella zoster virus PCR in CSF positive": "HP:0430138", + "CSF pathogen-specific antibody positivity": "HP:0430139", + "Positive CSF nucleic acid pathogen test": "HP:0430140", + "CSF varicella zoster antibody positivity": "HP:0430141", + "Anti-VZV IgG antibodies in CSF": "HP:0430141", + "Reduced circulating interleukin 6 concentration": "HP:0430142", + "IL-6 low in blood": "HP:0430142", + "Elevated circulating C12 acylcarnitine concentration": "HP:0430143", + "Frontalis muscle overactivity": "HP:0430144", + "Nasal dermoid cyst": "HP:0430145", + "Elevated circulating complement C3 concentration": "HP:0430146", + "Abnormal circulating inhibin B concentration": "HP:0430147", + "Abnormal circulating lipoprotein(a) concentration": "HP:0430148", + "Positive blood infectious agent test": "HP:0430150", + "Positive respiratory tract infectious agent test": "HP:0430151", + "Body odor": "HP:0500001", + "BO": "HP:0500001", + "Bromhidrosis": "HP:0500001", + "Bromidrosis": "HP:0500001", + "Osmidrosis": "HP:0500001", + "Anal pain": "HP:0500005", + "Anorectal pain": "HP:0500005", + "Proctalgia": "HP:0500005", + "Rectal pain": "HP:0500005", + "Urethritis": "HP:0500006", + "Iris flocculi": "HP:0500007", + "Cornea verticillata": "HP:0500008", + "Vortex keratopathy": "HP:0500008", + "Dysplastic gangliocytoma of the cerebellum": "HP:0500009", + "LDD": "HP:0500009", + "Lhermitte-Duclos disease": "HP:0500009", + "obsolete Increased cholesterol esters": "HP:0500010", + "Moon facies": "HP:0500011", + "Moon face": "HP:0500011", + "Puffy face": "HP:0500011", + "Puffy facies": "HP:0500011", + "Abnormal gonadotropin-releasing hormone concentration": "HP:0500012", + "Abnormality of GnRH level": "HP:0500012", + "Abnormality of gonadotropin-releasing hormone level": "HP:0500012", + "Lack of gonadotropin-releasing hormone pulsatility": "HP:0500013", + "Absence of GnRH pulsatility": "HP:0500013", + "obsolete Abnormal test result": "HP:0500014", + "Abnormal cardiac test": "HP:0500015", + "Abnormal cardiac MRI": "HP:0500016", + "Abnormal cardiac magnetic resonance imaging": "HP:0500016", + "Abnormal heart MRI": "HP:0500016", + "Abnormal cardiac catheterization": "HP:0500017", + "Abnormal cardiac cath": "HP:0500017", + "Abnormal cardiac exercise stress test": "HP:0500018", + "Abnormal exercise test": "HP:0500018", + "Abnormal cardiac exercise test": "HP:0500018", + "Abnormal treadmill test": "HP:0500018", + "Abnormal resting energy expenditure from metabolic cart test": "HP:0500019", + "Abnormal metabolic cart test": "HP:0500019", + "Abnormal cardiac biomarker test": "HP:0500020", + "Reduced brain gamma-aminobutyric acid level by MRS": "HP:0500021", + "Abnormal circulating dehydroepiandrosterone concentration": "HP:0500022", + "Abnormal serum DHEA": "HP:0500022", + "Abnormal serum androstenolone level": "HP:0500022", + "Abnormal serum dehydroepiandrosterone level": "HP:0500022", + "Shoulder muscle aplasia": "HP:0500023", + "Absent shoulder muscle": "HP:0500023", + "Aplasia of the musculature of the pelvis": "HP:0500024", + "Hypoplasia of the musculature of the pelvis": "HP:0500026", + "Aplastic colon": "HP:0500027", + "Absence of the colon": "HP:0500027", + "Aplasia of the colon": "HP:0500027", + "Cotton wool plaques": "HP:0500028", + "CWPs": "HP:0500028", + "Abnormal hepatic glycogen storage": "HP:0500030", + "Sclerosis of the carpal bones": "HP:0500031", + "Abnormal neuron branching": "HP:0500032", + "Aberrant neuronal branching": "HP:0500032", + "Abnormal neuronal branching": "HP:0500032", + "Abnormal natural killer subset distribution": "HP:0500033", + "Nasolacrimal sac obstruction": "HP:0500034", + "Nasolacrimal sac granuloma": "HP:0500035", + "Nasolacrimal sac papilloma": "HP:0500036", + "Nasolacrimal sac epithelial papillary carcinoma": "HP:0500037", + "Conjunctival cicatrization": "HP:0500039", + "Cicatricial conjunctivitis": "HP:0500039", + "Cicatrizating conjunctivitis": "HP:0500039", + "Conjunctival cicatricial conjunctivitis": "HP:0500039", + "Dermolipoma of the conjunctiva": "HP:0500040", + "Conjunctival lipodermoid": "HP:0500040", + "Myopic astigmatism": "HP:0500041", + "Latent hypermetropia": "HP:0500042", + "Latent hyperopia": "HP:0500042", + "Eyelid retraction": "HP:0500043", + "Upper eyelid retraction": "HP:0500044", + "Collier's sign": "HP:0500045", + "Seborrhoeic blepharitis": "HP:0500046", + "Nasolacrimal sac lymphoma": "HP:0500047", + "Delayed canalization of nasolacrimal duct": "HP:0500048", + "Retinopathy of prematurity": "HP:0500049", + "Retinopathy of prematurity stage 1": "HP:0500050", + "ROP stage 1": "HP:0500050", + "Retinopathy of prematurity stage 2": "HP:0500051", + "ROP stage 2": "HP:0500051", + "Retinopathy of prematurity stage 3": "HP:0500052", + "ROP stage 3": "HP:0500052", + "Retinopathy of prematurity stage 4": "HP:0500053", + "ROP stage 4": "HP:0500053", + "Retinopathy of prematurity stage 4a": "HP:0500054", + "ROP stage 4a": "HP:0500054", + "Retinopathy of prematurity stage 4b": "HP:0500055", + "ROP 4b": "HP:0500055", + "Retinopathy of prematurity stage 5": "HP:0500056", + "ROP stage 5": "HP:0500056", + "Retinopathy of prematurity stage 5a": "HP:0500057", + "ROP stage 5a": "HP:0500057", + "Retinopathy of prematurity stage 5b": "HP:0500058", + "ROP stage 5b": "HP:0500058", + "Retinopathy of prematurity zone I": "HP:0500059", + "ROP zone 1": "HP:0500059", + "Retinopathy of prematurity zone II": "HP:0500060", + "ROP zone II": "HP:0500060", + "Retinopathy of prematurity zone III": "HP:0500061", + "ROP zone III": "HP:0500061", + "Retinopathy of prematurity plus": "HP:0500062", + "ROP plus": "HP:0500062", + "Retinopathy of prematurity pre-plus": "HP:0500063", + "ROP pre-plus": "HP:0500063", + "Retinopathy of prematurity threshold": "HP:0500064", + "ROP threshold": "HP:0500064", + "Retinopathy of prematurity prethreshold": "HP:0500065", + "ROP prethreshold": "HP:0500065", + "Latent myopia": "HP:0500066", + "Paralytic ectropion": "HP:0500069", + "Conjunctival dermolipoma": "HP:0500070", + "Absolute eccentric fixation": "HP:0500072", + "Abnormal ocular alignment": "HP:0500073", + "Dissociated vertical deviation": "HP:0500074", + "Dissociated horizontal deviation": "HP:0500075", + "Alternating hypertropia": "HP:0500076", + "Alternating hyperphoria": "HP:0500077", + "Alternating hypotropia": "HP:0500078", + "Alternating hypophoria": "HP:0500079", + "Pseudophakia": "HP:0500081", + "Optic nerve gray crescent": "HP:0500086", + "Optic nerve grey crescent": "HP:0500086", + "Temporal gray pigmentary crescent": "HP:0500086", + "Temporal grey pigmentary crescent": "HP:0500086", + "Peripapillary atrophy": "HP:0500087", + "Foveal depigmentation": "HP:0500088", + "Optic nerve sheath meningioma": "HP:0500089", + "Periocular capillary hemangioma": "HP:0500090", + "Peri-ocular capillary hemangioma": "HP:0500090", + "Lymphangioma of the orbit": "HP:0500091", + "Orbital rhabdomyosarcoma": "HP:0500092", + "Food allergy": "HP:0500093", + "Allergic reaction to foods": "HP:0500093", + "IgE-mediated food allergy": "HP:0500093", + "Immunoglobulin E-mediated food allergy": "HP:0500093", + "Reaction to food allergens": "HP:0500093", + "Latex allergy": "HP:0500094", + "Food-induced anaphylaxis": "HP:0500095", + "Venom-induced anaphylaxis": "HP:0500096", + "Stool xenobiotic": "HP:0500097", + "Meconium xenobiotic": "HP:0500098", + "Hair xenobiotic": "HP:0500099", + "Plasma/serum xenobiotic": "HP:0500100", + "Gastric fluid xenobiotic": "HP:0500101", + "Decreased diastolic blood pressure": "HP:0500104", + "Decreased diastolic BP": "HP:0500104", + "Reduced diastolic blood pressure": "HP:0500104", + "Decreased systolic blood pressure": "HP:0500105", + "Decreased systolic BP": "HP:0500105", + "Reduced systolic blood pressure": "HP:0500105", + "Isolated systolic hypertension": "HP:0500106", + "Isolated diastolic hypotension": "HP:0500107", + "Positive urine cocaine test": "HP:0500108", + "Positive urine barbiturate test": "HP:0500109", + "Positive urine cannabinoid test": "HP:0500110", + "Positive urine marijuana test": "HP:0500110", + "Positive urine pot test": "HP:0500110", + "Positive urine benzodiazepines test": "HP:0500111", + "Positive urine amphetamine test": "HP:0500112", + "Positive urine opioid test": "HP:0500113", + "Abnormal stool urobilinogen concentration": "HP:0500114", + "Increased stool urobilinogen concentration": "HP:0500115", + "Positive blood barbiturate test": "HP:0500116", + "Abnormal CSF urate concentration": "HP:0500117", + "Hypovalinemia": "HP:0500132", + "Low blood valine concentration": "HP:0500132", + "Hypotyrosinemia": "HP:0500133", + "Decreased tyrosine in blood": "HP:0500133", + "Low blood tyrosine concentration": "HP:0500133", + "Hypertryptophanemia": "HP:0500134", + "High blood tryptophan concentration": "HP:0500134", + "Increased tryptophan in blood": "HP:0500134", + "Hypotryptophanemia": "HP:0500135", + "Decreased tryptophan in blood": "HP:0500135", + "Low blood tryptophan concentration": "HP:0500135", + "Hypothreoninemia": "HP:0500136", + "Decreased circulating threonine levels": "HP:0500136", + "Decreased threonine blood levels": "HP:0500136", + "Low blood threonine concentration": "HP:0500136", + "Hyperserinemia": "HP:0500138", + "Elevated circulating serine levels": "HP:0500138", + "High blood serine levels": "HP:0500138", + "Increased serine blood concentration": "HP:0500138", + "Hypoprolinemia": "HP:0500139", + "Decreased blood proline levels": "HP:0500139", + "Low blood proline concentration": "HP:0500139", + "Decreased circulating hydroxyproline concentration": "HP:0500140", + "Decreased hydroxyproline in the blood": "HP:0500140", + "Low level of hydroxyproline in the blood": "HP:0500140", + "Hypophenylalaninemia": "HP:0500141", + "Decreased blood phenylalanine": "HP:0500141", + "Low blood phenylalanine": "HP:0500141", + "Hypolysinemia": "HP:0500142", + "Decreased blood lysine": "HP:0500142", + "Low blood lysine levels": "HP:0500142", + "Hypoleucinemia": "HP:0500143", + "Decreased blood concentration of leucine": "HP:0500143", + "Low blood leucine levels": "HP:0500143", + "Hypoisoleucinemia": "HP:0500144", + "Decreased blood isoleucine concentration": "HP:0500144", + "Low blood isoleucine levels": "HP:0500144", + "Hypohistidinemia": "HP:0500145", + "Decreased blood histidine concentration": "HP:0500145", + "Low blood histidine levels": "HP:0500145", + "Hypoglutaminemia": "HP:0500147", + "Decreased blood glutamine concentration": "HP:0500147", + "Low blood glutamine level": "HP:0500147", + "Abnormal circulating glutamate concentration": "HP:0500148", + "Abnormality of glutamate metabolism": "HP:0500148", + "Hyperglutamatemia": "HP:0500149", + "High blood glutamate levels": "HP:0500149", + "Increased blood glutamate concentration": "HP:0500149", + "Increased level of L-glutamic acid in blood": "HP:0500149", + "Hypoglutamatemia": "HP:0500150", + "Decreased blood glutamate concentrations": "HP:0500150", + "Low blood glutamate levels": "HP:0500150", + "Hypercystinemia": "HP:0500151", + "High blood cystine levels": "HP:0500151", + "Increased blood cystine concentration": "HP:0500151", + "Hypocystinemia": "HP:0500152", + "Decreased blood cystine concentration": "HP:0500152", + "Low blood cystine levels": "HP:0500152", + "Hyperargininemia": "HP:0500153", + "High blood arginine levels": "HP:0500153", + "Increased blood arginine concentration": "HP:0500153", + "Hypoalaninemia": "HP:0500154", + "Decreased blood alanine concentration": "HP:0500154", + "Low blood alanine levels": "HP:0500154", + "Abnormal circulating asparagine concentration": "HP:0500155", + "Abnormality of asparagine metabolism": "HP:0500155", + "Hyperasparaginemia": "HP:0500156", + "High blood asaparagine levels": "HP:0500156", + "Increased blood asparagine concentration": "HP:0500156", + "Hypoasparaginemia": "HP:0500157", + "Decreased blood asparagine concentration": "HP:0500157", + "Low blood asparagine levels": "HP:0500157", + "Abnormal circulating aspartic acid concentration": "HP:0500158", + "Abnormal circulating aspartate concentration": "HP:0500158", + "Increased circulating aspartic acid concentration": "HP:0500159", + "High blood aspartic acid levels": "HP:0500159", + "Increased blood aspartic acid": "HP:0500159", + "Increased level of circulating aspartic acid": "HP:0500159", + "Abnormal circulating carnosine concentration": "HP:0500160", + "Abnormality of carnosine metabolism": "HP:0500160", + "Increased circulating carnosine concentration": "HP:0500161", + "High blood carnosine levels": "HP:0500161", + "Increased blood carnosine concentration": "HP:0500161", + "Increased level of carnosine in blood": "HP:0500161", + "Decreased circulating carnosine concentration": "HP:0500162", + "Decreased blood carnosine concentration": "HP:0500162", + "Decreased level of carnosine in blood": "HP:0500162", + "Low blood carnosine levels": "HP:0500162", + "Hypoornithinemia": "HP:0500163", + "Decreased blood ornithine concentrations": "HP:0500163", + "Low blood ornithine levels": "HP:0500163", + "Abnormal blood carbon dioxide level": "HP:0500164", + "Abnormal CO2 levels in blood": "HP:0500164", + "Abnormal blood oxygen level": "HP:0500165", + "Abnormal O2 blood concentration": "HP:0500165", + "Abnormal blood O2 level": "HP:0500165", + "Abnormal blood oxygen levels": "HP:0500165", + "Abnormal circulating gastrin concentration": "HP:0500166", + "Abnormal circulating gastrin level": "HP:0500166", + "Hypergastrinemia": "HP:0500167", + "Elevated gastrin in the blood": "HP:0500167", + "Increased blood gastrin": "HP:0500167", + "Abnormal concentration of acylcarnitine in the urine": "HP:0500170", + "Reflex asystolic syncope": "HP:0500173", + "Reflex anoxic seizure": "HP:0500173", + "Reflex anoxic seizures": "HP:0500173", + "Abnormal circulating amino sulfonic acid concentration": "HP:0500180", + "Hypertaurinemia": "HP:0500181", + "Elevated serum taurine levels": "HP:0500181", + "Increased circulating taurine levels in the blood": "HP:0500181", + "Hypotaurinemia": "HP:0500182", + "Decreased circulating taurine levels": "HP:0500182", + "Lower blood levels of taurine": "HP:0500182", + "Reduced taurine levels in the blood": "HP:0500182", + "Abnormal CSF carboxylic acid concentration": "HP:0500183", + "Abnormal CSF amino acid concentration": "HP:0500184", + "Abnormal CSF amino acid level": "HP:0500184", + "Abnormal amino acid levels in cerebrospinal fluid": "HP:0500184", + "Abnormal cerebrospinal fluid amino acid level": "HP:0500184", + "Abnormal CSF branched chain amino acid concentration": "HP:0500185", + "Abnormal branched-chain amino acid levels in cerbrospinal fluid": "HP:0500185", + "Abnormal CSF valine concentration": "HP:0500186", + "Abnormal valine levels in cerebrospinal fluid": "HP:0500186", + "Increased CSF valine concentration": "HP:0500187", + "High valine levels in cerebrospinal fluid": "HP:0500187", + "Decreased CSF valine concentration": "HP:0500188", + "Low valine levels in cerebrospinal fluid": "HP:0500188", + "Abnormal CSF leucine concentration": "HP:0500189", + "Abnormal leucine levels in cerebrospinal fluid": "HP:0500189", + "Decreased CSF leucine concentration": "HP:0500190", + "Low leucine levels in cerebrospinal fluid": "HP:0500190", + "Increased CSF leucine concentration": "HP:0500191", + "High leucine levels in cerebrospinal fluid": "HP:0500191", + "Abnormal CSF isoleucine concentration": "HP:0500192", + "Abnormal isoleucine levels in cerebrospinal fluid": "HP:0500192", + "Increased CSF isoleucine concentration": "HP:0500193", + "High levels of isoleucine in cerebrospinal fluid": "HP:0500193", + "Decreased CSF isoleucine concentration": "HP:0500194", + "Low levels of isoleucine in cerebrospinal fluid": "HP:0500194", + "Abnormal CSF glutamine family amino acid concentration": "HP:0500195", + "Abnormal glutamine family amino acid levels in cerebrospinal fluid": "HP:0500195", + "Abnormal CSF glutamine concentration": "HP:0500196", + "Abnormal glutamine levels in cerebrospinal fluid": "HP:0500196", + "Increased CSF glutamine concentration": "HP:0500197", + "High glutamine levels in cerebrospinal fluid": "HP:0500197", + "Decreased CSF glutamine concentration": "HP:0500198", + "Low glutamine levels in cerebrospinal fluid": "HP:0500198", + "Abnormal CSF glutamate concentration": "HP:0500199", + "Abnormal glutamic acid levels in cerebrospinal fluid": "HP:0500199", + "Increased CSF glutamate concentration": "HP:0500200", + "High glutamic acid levels in cerebrospinal fluid": "HP:0500200", + "Decreased CSF glutamate concentration": "HP:0500201", + "Low glutamic acid levels in cerebrospinal fluid": "HP:0500201", + "Abnormal CSF arginine concentration": "HP:0500202", + "Abnormal arginine levels in cerebrospinal fluid": "HP:0500202", + "Increased CSF arginine concentration": "HP:0500203", + "High arginine levels in cerebrospinal fluid": "HP:0500203", + "Decreased CSF arginine concentration": "HP:0500204", + "Low arginine levels in cerebrospinal fluid": "HP:0500204", + "Abnormal CSF aspartate family amino acid concentration": "HP:0500205", + "Abnormal aspartate-family amino acid levels in cerebrospinal fluid": "HP:0500205", + "Abnormal CSF lysine concentration": "HP:0500206", + "Abnormal lysine levels in cerebrospinal fluid": "HP:0500206", + "Decreased CSF lysine concentration": "HP:0500207", + "Low lysine levels in cerebrospinal fluid": "HP:0500207", + "Increased CSF lysine concentration": "HP:0500208", + "High lysine levels in cerebrospinal fluid": "HP:0500208", + "Abnormal CSF methionine concentration": "HP:0500209", + "Abnormal methionine levels in cerebrospinal fluid": "HP:0500209", + "Increased CSF methionine concentration": "HP:0500210", + "High methionine levels in cerebrospinal fluid": "HP:0500210", + "Abnormal CSF threonine concentration": "HP:0500211", + "Abnormal threonine levels in cerebrospinal fluid": "HP:0500211", + "Increased CSF threonine concentration": "HP:0500212", + "High threonine levels in cerebrospinal fluid": "HP:0500212", + "Decreased CSF threonine concentration": "HP:0500213", + "Low threonine levels in the cerebrospinal fluid": "HP:0500213", + "Abnormal CSF aromatic amino acid concentration": "HP:0500214", + "Abnormal aromatic amino acid levels in cerebrospinal fluid": "HP:0500214", + "Abnormal CSF phenylalanine concentration": "HP:0500215", + "Abnormal phenylalanine levels in cerebrospinal fluid": "HP:0500215", + "Abnormal CSF aspartate concentration": "HP:0500216", + "Abnormal CSF aspartic acid concentration": "HP:0500216", + "Abnormal aspartic acid levels in cerebrospinal fluid": "HP:0500216", + "Increased CSF aspartate concentration": "HP:0500217", + "High aspartic acid levels in cerebrospinal fluid": "HP:0500217", + "Increased CSF aspartic acid concentration": "HP:0500217", + "Abnormal CSF tryptophan concentration": "HP:0500218", + "Abnormal tryptophan levels in cerebrospinal fluid": "HP:0500218", + "Abnormal CSF tyrosine concentration": "HP:0500219", + "Abnormal tyrosine levels in cerebrospinal fluid": "HP:0500219", + "Increased CSF tyrosine concentration": "HP:0500220", + "High tyrosine levels in cerebrospinal fluid": "HP:0500220", + "Decreased CSF tyrosine concentration": "HP:0500221", + "Low tyrosine levels in the cerebrospinal fluid": "HP:0500221", + "Increased CSF tryptophan concentration": "HP:0500222", + "High tryptophan levels in cerebrospinal fluid": "HP:0500222", + "Increased CSF phenylalanine concentration": "HP:0500223", + "High phenylalanine levels in cerebrospinal fluid": "HP:0500223", + "Decreased CSF phenylalanine concentration": "HP:0500224", + "Low phenylalanine levels in cerebrospinal fluid": "HP:0500224", + "Abnormal CSF serine family amino acid concentration": "HP:0500225", + "Abnormal serine-family amino acid levels in cerebrospinal fluid": "HP:0500225", + "Abnormal CSF serine concentration": "HP:0500226", + "Abnormal serine levels in cerebrospinal fluid": "HP:0500226", + "Increased CSF serine concentration": "HP:0500227", + "High serine levels in cerebrospinal fluid": "HP:0500227", + "Decreased CSF serine concentration": "HP:0500228", + "Low serine levels in cerebrospinal fluid": "HP:0500228", + "Abnormal CSF glycine concentration": "HP:0500229", + "Abnormal glycine levels in cerebrospinal fluid": "HP:0500229", + "Increased CSF glycine concentration": "HP:0500230", + "High glycine levels in cerebrospinal fluid": "HP:0500230", + "Abnormal CSF pyruvate family amino acid concentration": "HP:0500231", + "Abnormal pyruvate-family amino acid levels in cerebrospinal fluid": "HP:0500231", + "Abnormal CSF alanine concentration": "HP:0500232", + "Abnormal alanine levels in cerebrospinal fluid": "HP:0500232", + "Increased CSF alanine concentration": "HP:0500233", + "High alanine levels in cerebrospinal fluid": "HP:0500233", + "Decreased CSF alanine concentration": "HP:0500234", + "Low alanine levels in cerebrospinal fluid": "HP:0500234", + "Abnormal CSF histidine concentration": "HP:0500235", + "Abnormal histidine levels in cerebrospinal fluid": "HP:0500235", + "Increased CSF histidine concentration": "HP:0500236", + "High histidine levels in cerebrospinal fluid": "HP:0500236", + "Decreased CSF histidine concentration": "HP:0500237", + "Low histidine levels in cerebrospinal fluid": "HP:0500237", + "Abnormal CSF albumin concentration": "HP:0500238", + "Abnormal albumin levels in cerebrospinal fluid": "HP:0500238", + "Increased CSF albumin concentration": "HP:0500239", + "High albumin levels in cerebrospinal fluid": "HP:0500239", + "Abnormal CSF carnosine concentration": "HP:0500240", + "Abnormal carnosine levels in cerebrospinal fluid": "HP:0500240", + "Abnormal CSF homocarnosine concentration": "HP:0500241", + "Abnormal homocarnosine levels in cerebrospinal fluid": "HP:0500241", + "Increased CSF homocarnosine concentration": "HP:0500242", + "High homocarnosine levels in cerebrospinal fluid": "HP:0500242", + "Abnormal CSF ornithine concentration": "HP:0500243", + "Abnormal ornithine levels in cerebrospinal fluid": "HP:0500243", + "Increased CSF ornithine concentration": "HP:0500244", + "High ornithine levels in cerebrospinal fluid": "HP:0500244", + "Abnormal CSF citrulline concentration": "HP:0500245", + "Abnormal citrulline levels in cerebrospinal fluid": "HP:0500245", + "Increased CSF citrulline concentration": "HP:0500246", + "High citrulline levels in cerebrospinal fluid": "HP:0500246", + "Abnormal CSF alpha-aminobutyrate concentration": "HP:0500247", + "Abnormal alpha-aminobutyrate levels in cerebrospinal fluid": "HP:0500247", + "Increased CSF alpha-aminobutyrate concentration": "HP:0500248", + "High alpha-aminobutyrate levels in cerebrospinal fluid": "HP:0500248", + "Abnormal circulating ethanolamine concentration": "HP:0500249", + "Abnormal ethanolamine levels in the blood": "HP:0500249", + "Increased circulating ethanolamine concentration": "HP:0500250", + "High ethanolamine levels in the blood": "HP:0500250", + "Abnormal urine sebacic acid concentration": "HP:0500251", + "Abnormal urine decanedioic acid concentration": "HP:0500251", + "Increased urine sebacic acid concentration": "HP:0500252", + "Increased urine decanedioic acid concentration": "HP:0500252", + "Increased level of gamma-aminobutyric acid in urine": "HP:0500253", + "Increased urinary excretion of gamma-aminobutyric acid (GABA)": "HP:0500253", + "Abnormal urine hexanoylglycine concentration": "HP:0500254", + "Abnormal urinary N-hexanoylglycine levels": "HP:0500254", + "Increased level of hexanoylglycine in urine": "HP:0500255", + "Elevated urinary N-hexanoylglycine concentration": "HP:0500255", + "Abnormal urine isobutyrylglycine concentration": "HP:0500256", + "Abnormal urinary isobutyrylglycine levels": "HP:0500256", + "Increased urine isobutyrylglycine concentration": "HP:0500257", + "High urinary isobutyrylglycine levels": "HP:0500257", + "Abnormal carbon dioxide level in cord blood": "HP:0500258", + "Abnormal CO2 level in cord blood": "HP:0500258", + "Abnormal umbilical cord blood levels of carbon dioxide": "HP:0500258", + "Abnormal oxygen level in cord blood": "HP:0500259", + "Abnormal O2 level in cord blood": "HP:0500259", + "Abnormal cord blood oxygen levels": "HP:0500259", + "Abnormal oxygen amount in umbilical cord blood": "HP:0500259", + "Triggered by head trauma": "HP:0500260", + "Head trauma triggered symptoms": "HP:0500260", + "Triggered by anesthetics": "HP:0500261", + "Anaesthetics trigger episodes": "HP:0500261", + "Anaesthetics triggered symptoms": "HP:0500261", + "Anesthetics trigger episodes": "HP:0500261", + "Anesthetics triggered symptoms": "HP:0500261", + "Triggered by anaesthetics": "HP:0500261", + "Atrichia": "HP:0500262", + "Abnormal helper T cell proportion": "HP:0500263", + "Abnormal proportion of circulating T-helper cells": "HP:0500263", + "Increased helper T cell proportion": "HP:0500264", + "Elevated helper T cell proportion": "HP:0500264", + "Increased proportion T-helper cells": "HP:0500264", + "Increased proportion of CD8-positive, alpha-beta TEMRA T cells": "HP:0500265", + "Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated": "HP:0500265", + "Decreased proportion of CD8-positive, alpha-beta TEMRA T cells": "HP:0500266", + "Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated": "HP:0500266", + "Abnormal proportion of CD4-positive helper T cells": "HP:0500267", + "Abnormal proportion of gamma-delta T cells": "HP:0500269", + "Abnormal proportion of gamma-delta T lymphocytes": "HP:0500269", + "Abnormal proportion of gamma-delta T-lymphocytes": "HP:0500269", + "Abnormal proportion of gammadelta T cells": "HP:0500269", + "Increased proportion of gamma-delta T cells": "HP:0500270", + "Elevated proportion of gamma-delta T cells": "HP:0500270", + "Increased proportion of gamma-delta T lymphocytes": "HP:0500270", + "Increased proportion of gamma-delta T-cells": "HP:0500270", + "Increased proportion of gamma-delta T-lymphocytes": "HP:0500270", + "Increased proportion of gammadelta T cells": "HP:0500270", + "Decreased proportion of gamma-delta T cells": "HP:0500271", + "Decreased proportion of gamma-delta T lymphocytes": "HP:0500271", + "Decreased proportion of gamma-delta T-cells": "HP:0500271", + "Decreased proportion of gamma-delta T-lymphocytes": "HP:0500271", + "Decreased proportion of gammadelta T cells": "HP:0500271", + "Reduced proportion of gamma-delta T cells": "HP:0500271", + "Abnormal proportion of immature gamma-delta T cells": "HP:0500272", + "Abnormal proportion of immature gamma-delta T lymphocytes": "HP:0500272", + "Abnormal proportion of immature gamma-delta T-cells": "HP:0500272", + "Abnormal proportion of immature gamma-delta T-lymphocytes": "HP:0500272", + "Increased proportion of immature gamma-delta T cells": "HP:0500273", + "Elevated proportion of immature gamma-delta T cells": "HP:0500273", + "Increased proportion of immature gamma-delat T lymphocytes": "HP:0500273", + "Increased proportion of immature gamma-delta T-cells": "HP:0500273", + "Increased proportion of immature gamma-delta T-lymphocytes": "HP:0500273", + "Decreased proportion of immature gamma-delta T cells": "HP:0500274", + "Decreased proportion of immature gamma-delta T lymphocytes": "HP:0500274", + "Decreased proportion of immature gamma-delta T-cells": "HP:0500274", + "Decreased proportion of immature gamma-delta T-lymphocytes": "HP:0500274", + "Reduced proportion of immature gamma-delta T cells": "HP:0500274", + "Proximal scleroderma": "HP:0550003", + "Verruca plana": "HP:0550004", + "Flat wart": "HP:0550004", + "Bilateral basilar pulmonary fibrosis": "HP:0550005", + "Lung disease with systemic sclerosis": "HP:0550005", + "Scleroderma lung disease": "HP:0550005", + "Scleroderma of lung": "HP:0550005", + "obsolete Abnormal heart morphology": "HP:3000001", + "Abnormal inner ear epithelium morphology": "HP:3000002", + "Abnormal mandibular ramus morphology": "HP:3000003", + "Abnormality of mandibular ramus": "HP:3000003", + "Abnormal frontalis muscle physiology": "HP:3000004", + "Abnormality of masseter muscle": "HP:3000005", + "Abnormality of medial pterygoid muscle": "HP:3000006", + "Abnormality of mentalis muscle": "HP:3000007", + "Abnormality of mylohyoid muscle": "HP:3000008", + "Abnormality of nasalis muscle": "HP:3000009", + "Abnormality of orbicularis oris muscle": "HP:3000010", + "Abnormality of palatoglossus muscle": "HP:3000011", + "Abnormality of palatopharyngeus muscle": "HP:3000012", + "Abnormal platysma muscle morphology": "HP:3000013", + "Abnormality of platysma": "HP:3000013", + "Abnormality of the platysma muscle": "HP:3000013", + "Abnormality of procerus muscle": "HP:3000014", + "Abnormality of risorius muscle": "HP:3000015", + "Abnormality of styloglossus muscle": "HP:3000016", + "Abnormality of temporalis muscle": "HP:3000017", + "Abnormality of zygomaticus major muscle": "HP:3000018", + "Abnormal buccal mucosa morphology": "HP:3000019", + "Abnormality of buccal mucosa": "HP:3000019", + "Abnormality of cheek mucosa": "HP:3000019", + "Abnormality of inside lining of cheek": "HP:3000019", + "Abnormality of zygomaticus minor muscle": "HP:3000020", + "Abnormal buccal fat pad morphology": "HP:3000021", + "Abnormality of buccal fat pad": "HP:3000021", + "Abnormal external ear cartilage morphology": "HP:3000022", + "Abnormality of cartilage of external ear": "HP:3000022", + "Abnormality of angular artery": "HP:3000023", + "Abnormal facial artery morphology": "HP:3000024", + "Abnormality of facial artery": "HP:3000024", + "Abnormality of ciliary ganglion": "HP:3000025", + "obsolete Abnormality of common carotid artery plus branches": "HP:3000026", + "Abnormality of buccinator muscle": "HP:3000027", + "Abnormality of depressor anguli oris muscle": "HP:3000028", + "Abnormality of depressor labii inferioris": "HP:3000029", + "Abnormality of depressor labii inferioris muscle": "HP:3000029", + "Abnormal morphology of bony orbit of skull": "HP:3000030", + "Abnormality of bones of the orbit of the skull": "HP:3000030", + "Abnormality of bony orbit of skull": "HP:3000030", + "Abnormality of the bony eye socket": "HP:3000030", + "Abnormality of the orbital bones of skull": "HP:3000030", + "Abnormality of anterior ethmoidal artery": "HP:3000031", + "Abnormality of central retinal artery": "HP:3000032", + "Abnormal nasopharyngeal adenoid morphology": "HP:3000033", + "Abnormality of adenoids": "HP:3000033", + "Abnormality of nasopharyngeal adenoids": "HP:3000033", + "Abnormality of nasopharyngeal tonsil": "HP:3000033", + "Abnormality of pharyngeal tonsil": "HP:3000033", + "Abnormality nasal septum cartilage morphology": "HP:3000034", + "Abnormality of cartilage of nasal septum": "HP:3000034", + "Abnormality of cartilage of septum of nose": "HP:3000034", + "Anomaly of cartilage of nasal septum": "HP:3000034", + "Deformity of cartilage of nasal septum": "HP:3000034", + "Malformation of cartilage of nasal septum": "HP:3000034", + "Abnormality of cervical plexus": "HP:3000035", + "Abnormal head blood vessel morphology": "HP:3000036", + "Abnormality of blood vessel of head": "HP:3000036", + "Abnormality of head blood vessel": "HP:3000036", + "Abnormality of vasculature of head": "HP:3000036", + "Abnormal neck blood vessel morphology": "HP:3000037", + "Abnormality of blood vessel of neck": "HP:3000037", + "Abnormality of neck blood vessel": "HP:3000037", + "Abnormality of the cervical blood vessels": "HP:3000037", + "Abnormality of the cervical vasculature": "HP:3000037", + "Abnormality of the vasculature of the neck": "HP:3000037", + "Abnormal cricoid cartilage morphology": "HP:3000038", + "Abnormality of cricoid cartilage": "HP:3000038", + "Abnormality of dorsal nasal artery": "HP:3000039", + "Abnormality of ethmoid sinus": "HP:3000040", + "Abnormality of ethmoidal air cells": "HP:3000040", + "Abnormality of external carotid artery": "HP:3000041", + "Abnormality of carotid artery": "HP:3000041", + "Disorder of carotid artery": "HP:3000041", + "Abnormal jugular vein morphology": "HP:3000042", + "Abnormality of jugular vein": "HP:3000042", + "Abnormal facial vein morphology": "HP:3000043", + "Abnormal vein of face": "HP:3000043", + "Abnormality of facial vein": "HP:3000043", + "Abnormality of frontal process of maxilla": "HP:3000044", + "Abnormality of genioglossus muscle": "HP:3000045", + "Abnormal geniohyoid muscle morphology": "HP:3000046", + "Abnormal glossopharyngeal nerve morphology": "HP:3000047", + "Abnormality of glossopharyngeal nerve": "HP:3000047", + "Abnormal great auricular nerve morphology": "HP:3000048", + "Abnormal greater palatine artery morphology": "HP:3000049", + "Abnormality of greater palatine artery": "HP:3000049", + "Abnormal odontoid tissue morphology": "HP:3000050", + "Abnormality of hard tissues of teeth": "HP:3000050", + "Abnormality of odontoid tissue": "HP:3000050", + "Abnormality of tooth hard tissue": "HP:3000050", + "Abnormal hyoglossus muscle morphology": "HP:3000051", + "Abnormality of hyoglossus muscle": "HP:3000051", + "Abnormal hyoid bone morphology": "HP:3000052", + "Abnormality of hyoid bone": "HP:3000052", + "Abnormal hypopharynx morphology": "HP:3000053", + "Abnormality of hypopharynx": "HP:3000053", + "Abnormality of lower pharynx": "HP:3000053", + "Abnormal inferior alveolar artery morphology": "HP:3000054", + "Abnormality of inferior alveolar nerve": "HP:3000055", + "Abnormality of artery of lower lip": "HP:3000056", + "Abnormality of the inferior labial artery": "HP:3000056", + "Abnormality of inferior oblique extraocular muscle": "HP:3000057", + "Abnormality of the inferior oblique muscle": "HP:3000057", + "Abnormality of inferior rectus extraocular muscle": "HP:3000058", + "Abnormal inferior thyroid vein morphology": "HP:3000059", + "Abnormality of inferior thyroid vein": "HP:3000059", + "Abnormal infraorbital artery morphology": "HP:3000060", + "Abnormality of infraorbital artery": "HP:3000060", + "Abnormality of infra-orbital nerve": "HP:3000061", + "Abnormality of the infraorbital nerve": "HP:3000061", + "Abnormal internal carotid artery morphology": "HP:3000062", + "Abnormality of internal carotid artery": "HP:3000062", + "Abnormality of internal jugular vein": "HP:3000063", + "Abnormality of intrinsic muscle of tongue": "HP:3000064", + "Abnormality of intrinsic lingual muscle": "HP:3000064", + "Abnormal lacrimal artery morphology": "HP:3000065", + "Abnormality of lacrimal artery": "HP:3000065", + "Abnormal lacrimal sac morphology": "HP:3000066", + "Abnormality of lacrimal sac": "HP:3000066", + "Abnormal lateral cricoarytenoid muscle morphology": "HP:3000067", + "Abnormal anterior cricoarytenoid muscle morphology": "HP:3000067", + "Abnormality of lateral crico-arytenoid": "HP:3000067", + "Abnormality of lateral cricoarytenoid muscle": "HP:3000067", + "Abnormality of lateral pterygoid muscle": "HP:3000068", + "Abnormality of lateral rectus extra-ocular muscle": "HP:3000069", + "Abnormality of levator anguli oris": "HP:3000070", + "Abnormality of levator labii superioris": "HP:3000071", + "Abnormal levator palpebrae superioris morphology": "HP:3000072", + "Abnormality of levator veli palatini muscle": "HP:3000073", + "Abnormal lingual artery morphology": "HP:3000074", + "Abnormality of lingual artery": "HP:3000074", + "Abnormal lingual nerve morphology": "HP:3000075", + "Abnormality of lingual nerve": "HP:3000075", + "Abnormality of lingual tonsil": "HP:3000076", + "Abnormal mandible condylar process morphology": "HP:3000077", + "Abnormality of mandible condylar process": "HP:3000077", + "Abnormal mandible coronoid process morphology": "HP:3000078", + "Abnormality of mandible coronoid process": "HP:3000078", + "Abnormal mandibular symphysis morphology": "HP:3000079", + "Abnormality of mandible symphysis": "HP:3000079", + "Abnormal cardiac magnetic resonance imaging finding": "HP:4000001", + "Elevated myocardial native T2": "HP:4000003", + "Myocardial late gadolinium enhancement": "HP:4000004", + "Delayed myocardial gadolinium enhancement": "HP:4000004", + "Pericardial late gadolinium enhancement": "HP:4000005", + "Elevated myocardial native T1": "HP:4000006", + "Prolonged myocardial native T1": "HP:4000006", + "Bronchoconstriction": "HP:4000007", + "Bronchial constriction": "HP:4000007", + "Bronchospasm": "HP:4000007", + "Constriction of the bronchi": "HP:4000007", + "Formation of multiple pronuclei during fertilization": "HP:4000008", + "Kinesiophobia": "HP:4000009", + "Impaired renal tubular reabsorption of bicarbonate": "HP:4000010", + "History of congenital HPV infection": "HP:4000011", + "Necrotizing ileitis": "HP:4000012", + "Anti-desmoglein-1 antibody positivity": "HP:4000013", + "Anti-desmoglein-3 antibody positivity": "HP:4000014", + "Anti-envoplakin antibody positivity": "HP:4000015", + "Anti-periplakin antibody positivity": "HP:4000016", + "Anti-desmoplakin I antibody positivity": "HP:4000017", + "Anti-desmoplakin II antibody positivity": "HP:4000018", + "Anti-BP230 antibody positivity": "HP:4000019", + "Anti-BP180 antibody positivity": "HP:4000020", + "Anti-laminin 332 antibody positivity": "HP:4000021", + "Anti-laminin 5 antibody positivity": "HP:4000021", + "Anti-laminin 6 antibody positivity": "HP:4000022", + "Anti-laminin gamma1 antibody positivity": "HP:4000023", + "Anti-laminin antibody positivity": "HP:4000024", + "Anti-integrin antibody positivity": "HP:4000025", + "Anti-transglutaminase 6 antibody": "HP:4000026", + "Anti-LAD-1 antibody positivity": "HP:4000027", + "Anti-LABD97 antibody positivity": "HP:4000028", + "Antigliadin antibody positivity": "HP:4000029", + "AGA autoantibodies": "HP:4000029", + "Anti-reticulin antibody positivity": "HP:4000030", + "Anti-type VII collagen antibody": "HP:4000031", + "False perception of self-motion": "HP:4000032", + "Non-spinning vertigo": "HP:4000033", + "Infection-associated lymphopenia": "HP:4000034", + "Infection-associated lymphocytopenia": "HP:4000034", + "Primary obstructive megaureter": "HP:4000035", + "Encysted hydrocele of the cord": "HP:4000036", + "Congenital hydrocele": "HP:4000037", + "Infantile hydrocele": "HP:4000038", + "Reduced proportion of mucosal-associated invariant T cells": "HP:4000039", + "Puerpural onset": "HP:4000040", + "AA amyloidosis": "HP:4000041", + "Fracture type": "HP:4000042", + "Greenstick fracture": "HP:4000043", + "Incomplete fracture": "HP:4000043", + "Transverse fracture": "HP:4000044", + "Spiral fracture": "HP:4000045", + "Oblique fracture": "HP:4000046", + "Compression fracture": "HP:4000047", + "Wedge fracture": "HP:4000047", + "Comminuted fracture": "HP:4000048", + "Segmental fracture": "HP:4000049", + "Open fracture": "HP:4000050", + "Compound fracture": "HP:4000050", + "Closed fracture": "HP:4000051", + "Avulsion fracture": "HP:4000052", + "Displaced fracture": "HP:4000053", + "Exanthem": "HP:4000054", + "Intestinal inflammation": "HP:4000055", + "Abnormal apoptosis": "HP:4000056", + "Decreased FasL-mediated apoptosis": "HP:4000057", + "Glomerular proteinuria": "HP:4000058", + "Abnormal lung development": "HP:4000059", + "Developmental pulmonary anomaly": "HP:4000059", + "Abnormal pulmonary alveolar system development": "HP:4000060", + "Pancreatic alpha-cell hyperplasia": "HP:4000061", + "3-4 metacarpal synostosis": "HP:4000062", + "Fused third and fourth metacarpals": "HP:4000062", + "Middle and ring finger metacarpal synostosis": "HP:4000062", + "Synostosis of third and the fourth metacarpal bones": "HP:4000062", + "Abnormal iliac artery morphology": "HP:4000066", + "Iliac artery aneurysm": "HP:4000067", + "Abnormal interest": "HP:4000068", + "Persistent preoccupation with parts of objects": "HP:4000069", + "Fixated interest in unusual objects": "HP:4000069", + "Fixated interest with parts of objects": "HP:4000069", + "Fixation with parts of objects": "HP:4000069", + "Fixated interests": "HP:4000070", + "Circumscribed interests": "HP:4000070", + "Restricted interests": "HP:4000070", + "Abnormal language feature": "HP:4000072", + "Pronoun reversal": "HP:4000073", + "Involuntary vocalization": "HP:4000074", + "Reduced frequency of facial expressions": "HP:4000075", + "Use of another person's body to communicate": "HP:4000076", + "Hand-leading gesture": "HP:4000076", + "Hand-taking gestures": "HP:4000076", + "Fixated interest with abnormal focus": "HP:4000077", + "Unusual preoccupations": "HP:4000077", + "Fixated interest with abnormal intensity": "HP:4000078", + "Sensory seeking": "HP:4000079", + "obsolete 4000080": "HP:4000080", + "Reduced production of gestures": "HP:4000081", + "Reduced cooperative play": "HP:4000082", + "Reduced collaborative play": "HP:4000082", + "Lack of interest in peers": "HP:4000083", + "Ignores peers": "HP:4000083", + "Reduced desire to interact with peers": "HP:4000083", + "Reduced interest in other children": "HP:4000083", + "Reduced sharing of interests": "HP:4000084", + "Reduced object sharing": "HP:4000085", + "Abnormal communicative facial expressions": "HP:4000087", + "Abnormal facial expression use": "HP:4000087", + "Facial expressions that do not match the context": "HP:4000088", + "Abnormal quality of facial expression": "HP:4000089", + "Atypical facial expressions": "HP:4000089", + "Abnormal gesture use": "HP:4000090", + "Abnormal communicative gesture use": "HP:4000090", + "Abnormal communicative gestures": "HP:4000090", + "Abnormal gestures": "HP:4000090", + "Poor conversational reciprocity": "HP:4000092", + "Failure of normal back-and-forth conversation": "HP:4000092", + "Ectopic tooth eruption": "HP:4000093", + "Corpus cavernosum hypoplasia": "HP:4000094", + "Elevated circulating thymine concentration": "HP:4000095", + "Positive lactose hydrogen breath test": "HP:4000100", + "Triggered by exposure to medication": "HP:4000101", + "Triggered by medication exposure": "HP:4000101", + "Triggered by allopurinol": "HP:4000102", + "Allopurinol exposure": "HP:4000102", + "Ameliorated by oral zinc supplementation": "HP:4000103", + "Zinc oral supplementation produces improvement": "HP:4000103", + "Curved dental root": "HP:4000104", + "Dental roots curved": "HP:4000104", + "Abnormal four chamber view of the fetal heart": "HP:4000105", + "Abnormal four chamber view": "HP:4000105", + "Spleen hamartoma": "HP:4000106", + "Positive lupus band test": "HP:4000107", + "Lupus band test positive": "HP:4000107", + "Bone marrow erythroid vacuolization": "HP:4000108", + "Bone marrow: erythroid vacuolization": "HP:4000108", + "Triggered by electromagnetic field": "HP:4000109", + "Electromagnetic field triggers symptoms": "HP:4000109", + "Exposure history": "HP:4000110", + "Asbestos exposure": "HP:4000111", + "Medication history": "HP:4000112", + "Aminoglycoside exposure": "HP:4000113", + "Statin exposure": "HP:4000114", + "Potassium-sparing diuretic exposure": "HP:4000115", + "Carbamazepine exposure": "HP:4000116", + "Valproate exposure": "HP:4000117", + "Hydralazine exposure": "HP:4000118", + "Calcium channel blocker exposure": "HP:4000119", + "Calcium channel blocking drug use": "HP:4000119", + "Triggered by nickel": "HP:4000120", + "Contact with nickel": "HP:4000120", + "Triggered by poison ivy, poson oak, or sumac": "HP:4000121", + "Contact with poison ivy, poison oak, or sumac": "HP:4000121", + "History of exclusive breast feeding": "HP:4000122", + "Breast feeding, exclusive": "HP:4000122", + "Nutrition history": "HP:4000123", + "High dietary oxalate intake": "HP:4000124", + "Foods high in oxalate, high intake": "HP:4000124", + "Recent honey ingestion": "HP:4000125", + "Honey ingestion in recent weeks": "HP:4000125", + "Raw egg-white ingestion": "HP:4000126", + "Exacerbated by sodium channel blocking agent exposure": "HP:4000127", + "Sodium channel blocking drugs aggravate findings": "HP:4000127", + "Addictive nitrous oxide use": "HP:4000128", + "Nitrous oxide abuse": "HP:4000128", + "Nitrous oxide addiction": "HP:4000128", + "Recent blood transfusion": "HP:4000129", + "Blood transfusion, recent": "HP:4000129", + "Ameliorated by colchicine": "HP:4000130", + "Colchicine ameliorates symptoms": "HP:4000130", + "Ameliorated by vitamin D": "HP:4000131", + "Vitamin D reduces manifestations": "HP:4000131", + "Exacerbated by phenytoin exposure": "HP:4000132", + "Phenytoin produces worsening": "HP:4000132", + "Triggered by angiotensin-converting enzyme inhibitor": "HP:4000133", + "ACE inhibitors trigger attacks": "HP:4000133", + "Prostaglandin E1 exposure": "HP:4000134", + "5-fluorouracil exposure": "HP:4000135", + "6-mercaptopurine exposure": "HP:4000136", + "Isoniazid exposure": "HP:4000137", + "Absent cavum septum pellucidum": "HP:4000138", + "Fetal abdominal cyst": "HP:4000139", + "Fetal cystic abdominal mass": "HP:4000139", + "Foetal abdominal cyst": "HP:4000139", + "Foetal cystic abdominal mass": "HP:4000139", + "Fetal bowel dilatation": "HP:4000140", + "Foetal bowel dilatation": "HP:4000140", + "Prenatal ultrasound: bowel loops dilated": "HP:4000140", + "Left ventricular dilatation": "HP:4000141", + "Dilated left heart ventricle": "HP:4000141", + "Fetal trigonocephaly": "HP:4000142", + "Foetal trigonocephaly": "HP:4000142", + "Strawberry sign": "HP:4000142", + "Strawberry skull": "HP:4000142", + "Strawberry-shaped skull": "HP:4000142", + "Abnormal fetal heart outflow tract": "HP:4000143", + "Recent past medical history": "HP:4000144", + "History of recent viral illness": "HP:4000145", + "Antecedent viral illness": "HP:4000145", + "History of recent dental procedure": "HP:4000146", + "Abnormal hepatic artery morphology": "HP:4000147", + "Hepatic artery hyperplasia": "HP:4000148", + "Lymph node necrosis": "HP:4000149", + "Necrosis in lymph node": "HP:4000149", + "Multinucleated neuron": "HP:4000150", + "History of recent contralateral injury": "HP:4000151", + "Alternating laterality": "HP:4000152", + "Alternating sides of the body": "HP:4000152", + "Cervical squamous cell papilloma": "HP:4000153", + "Cervix squamous papilloma": "HP:4000153", + "Liver leiomyoma": "HP:4000154", + "Hepatic leiomyoma": "HP:4000154", + "Typified by high penetrance": "HP:4000158", + "Typified by moderate penetrance": "HP:4000159", + "Typified by low penetrance": "HP:4000160", + "Decreased Succinyl-CoA 3-ketoacid CoA transferase activity": "HP:4000162", + "SCOT activity low in fibroblasts": "HP:4000162", + "Reduced phytanic acid oxidase activity in cultured fibroblasts": "HP:4000163", + "Decreased phytanoyl-CoA hydroxylase activity": "HP:4000163", + "PhyH activity low in fibroblasts": "HP:4000163", + "Reduced bifunctional protein activity": "HP:4000164", + "Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity": "HP:4000164", + "Decreased circulating plasmalogen concentration": "HP:4000165", + "Reduced circulating plasmalogen concentration": "HP:4000165", + "Post-vaccination varicella zoster virus infection": "HP:4000166", + "Varicella zoster virus infection after vaccination": "HP:4000166", + "Recent steroid exposure": "HP:4000167", + "History of recent steroid use": "HP:4000167", + "Shark teeth": "HP:4000168", + "Cauliflower teeth": "HP:4000168", + "Double-parked teeth": "HP:4000168", + "Teeth: double row": "HP:4000168", + "Pontine T2 hypointensity": "HP:4000169", + "Anti-platelet antigen antibody positivity": "HP:4000170", + "Antiplatelet antibodies present": "HP:4000170", + "Anti-voltage-gated potassium channel antibody positivity": "HP:4000171", + "Voltage gated potassium channel antibodies in blood": "HP:4000171", + "Vegan diet": "HP:4000172", + "History of previous pregnancy with hydrops fetalis": "HP:4000173", + "History of hydrops fetalis in newborn offspring": "HP:4000173", + "Ameliorated by potassium supplements": "HP:4000174", + "Potassium supplements alleviate attacks": "HP:4000174", + "Ameliorated by niacin": "HP:4000175", + "Ameliorated by vitamin B3": "HP:4000175", + "Niacin reverses symptoms": "HP:4000175", + "Aggravated by exposure to medication": "HP:4000176", + "Bleeding ameliorated by vitamin K": "HP:4000177", + "Vitamin K treatment reduces bleeding significantly": "HP:4000177", + "Anti-retroviral therapy exposure": "HP:4000178", + "Potassium-wasting diuretic exposure": "HP:4000179", + "Tricyclic antidepressant exposure": "HP:4000180", + "Tricyclic antidepressant use": "HP:4000180", + "Excessive dental attrition": "HP:4000181", + "Excessive tooth attrition": "HP:4000181", + "Excessive wear and tear on teeth": "HP:4000181", + "Positionally dependent pain": "HP:4000182", + "Positional nature to pain": "HP:4000182", + "Abnormal erythrocyte adenosine triphosphate concentration": "HP:4000183", + "Reduced erythrocyte adenosine triphosphate concentration": "HP:4000184", + "Elevated erythrocyte adenosine triphosphate concentration": "HP:4000186", + "Adenosine triphosphate (ATP) high in erythrocytes": "HP:4000186", + "Spermatogonial maturation arrest": "HP:4000187", + "Spermatogonial arrest": "HP:4000187", + "Elevated circulating neuron-specific enolase concentration": "HP:4000189", + "Neuron-specific enolase high in blood": "HP:4000189", + "Reduced leukocyte alpha-mannosidase activity": "HP:4000190", + "Increased circulating alpha-mannosidase activity": "HP:4000191", + "Reduced leukocyte cathepsin D activity": "HP:4000192", + "Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity": "HP:4000193", + "Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity": "HP:4000193", + "Pseudohyperkalemia": "HP:4000194", + "Abnormal enzyme activity in cultured fibroblasts": "HP:4000195", + "Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts": "HP:4000196", + "Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts": "HP:4000197", + "Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts": "HP:4000197", + "Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts": "HP:4000198", + "Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts": "HP:4000198", + "Reduced erythrocyte porphobilinogen deaminase activity": "HP:4000199", + "Reduced holocarboxylase synthetase activity in cultured fibroblasts": "HP:4000200", + "Abnormal circulating alpha mannosidase activity": "HP:4000201", + "Reduced tissue alpha-N-acetylgalactosaminidase activity": "HP:4000202", + "Reduced erythrocyte arginase activity": "HP:4000203", + "Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts": "HP:4000204", + "Reduced tissue beta-mannosidase activity": "HP:4000205", + "Reduced beta-mannosidase activity in cultured fibroblasts": "HP:4000205", + "Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts": "HP:4000206", + "3-methylcrotonyl CoA carboxylase low in fibroblasts": "HP:4000206", + "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts": "HP:4000207", + "Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity": "HP:4000208", + "Abnormal erythrocyte adenosine deaminase activity": "HP:4000209", + "Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts": "HP:4000210", + "Reduced glycerol kinase activity in cultured fibroblasts": "HP:4000211", + "Increased circulating vitamin A concentration": "HP:4000212", + "Vitamin A high in blood": "HP:4000212", + "Elevated circulating hyaluronic acid concentration": "HP:4000213", + "Hyaluronic acid high in blood": "HP:4000213", + "Diminished breath sounds": "HP:4000214", + "Decreased breath sounds": "HP:4000214", + "Anti-AK5 antibody positivity": "HP:5000000", + "Anti-AMPAR antibody positivity": "HP:5000001", + "Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody": "HP:5000001", + "Anti-Amphiphysin antibody": "HP:5000002", + "Anti-ARHGAP26 antibody": "HP:5000003", + "Anti-Ca antibody": "HP:5000003", + "Anti-RhoGTPase-activating protein 26 antibody": "HP:5000003", + "Anti-CARP VIII antibody": "HP:5000004", + "Anti CARPVIII antibody": "HP:5000004", + "Anti-carbonic anhydrase-related protein VIII antibody": "HP:5000004", + "Anti-CASPR2": "HP:5000005", + "Anti-Caspr2 antibody": "HP:5000005", + "Anti-contactin-associated protein-like 2 antibody": "HP:5000005", + "Anti-CV2/CRMP5 antibody positivity": "HP:5000006", + "Anti-CV2 antibody": "HP:5000006", + "Anti-CV2/collapsin response mediator protein (CRMP)5 antibody": "HP:5000006", + "Anti-collapsin response-mediated protein 5 antibody": "HP:5000006", + "Anti-DPPX antibody": "HP:5000007", + "Anti-dipeptidyl-peptidase-like protein 6 antibody": "HP:5000007", + "Anti-FGFR3 antibody positivity": "HP:5000008", + "Anti-fibroblast growth factor receptor 3 antibody": "HP:5000008", + "Anti-GABA(A)R antibody": "HP:5000009", + "Anti-GABAA R antibody": "HP:5000009", + "Anti-gamma amino butyric acid type A receptors antibody": "HP:5000009", + "Anti-GABA(B)R antibody": "HP:5000010", + "Anti-gamma-aminobutyric acid B receptor antibody": "HP:5000010", + "Anti-GAD65 antibody": "HP:5000011", + "Anti-glutamic acid decarboxylase 65 antibody": "HP:5000011", + "Anti-Gephyrin antibody": "HP:5000012", + "Anti-GFAP antibody": "HP:5000013", + "Anti-glial fibrillary acidic protein antibody": "HP:5000013", + "Anti-GlyR antibody": "HP:5000014", + "Anti-glycine receptor antibody": "HP:5000014", + "Anti-Homer-3 antibody": "HP:5000015", + "Anti-Homer protein homolog 3 antibody": "HP:5000015", + "Anti-Hu antibody positivity": "HP:5000016", + "Anti-ANNA-1 antibody": "HP:5000016", + "Anti-Neuronal Nuclear Antibody type-1 antibody": "HP:5000016", + "Anti-Iglon5 antibody": "HP:5000017", + "Anti-immunoglobulin-like cell adhesion molecule 5 antibody": "HP:5000017", + "Anti-ITPR1 antibody": "HP:5000018", + "Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody": "HP:5000018", + "Anti-Kelch like protein 11 antibody positivity": "HP:5000019", + "Anti-KLHL11 antibody": "HP:5000019", + "Anti-LGI1 antibody": "HP:5000020", + "Anti-Anti-leucine-rich glioma-inactivated 1 antibody": "HP:5000020", + "Anti-Ma antibody positivity": "HP:5000021", + "Anti-Ma2 antibody positivity": "HP:5000022", + "Anti-Ta antibody": "HP:5000022", + "Anti-Ma1 antibody positivity": "HP:5000023", + "Anti-mGluR1 antibody": "HP:5000024", + "Anti-metabotropic glutamate receptor 1 antibody": "HP:5000024", + "Anti-mGluR5 antibody": "HP:5000025", + "Anti-Metabotropic Glutamate Receptor Type 5 antibody": "HP:5000025", + "Anti-neurexin-3alpha antibody positivity": "HP:5000026", + "Anti-neurexin-3alpha antibody": "HP:5000026", + "Anti-P/Q-type VGCC antibody positivity": "HP:5000027", + "Anti-P/Q-type voltage-gated calcium-channel antibody": "HP:5000027", + "Anti-MAP1B antibody": "HP:5000028", + "Anti-Purkinje cell cytoplasmic type-2 antibody": "HP:5000028", + "Anti-microtubule-associated protein 1B antibody": "HP:5000028", + "Anti-PKCgamma antibody": "HP:5000029", + "Anti-Protein kinase C gamma antibody": "HP:5000029", + "Anti-Ri antibody": "HP:5000030", + "Anti-ANNA-2 antibody": "HP:5000030", + "Anti-Septin-5 antibody": "HP:5000031", + "Anti-SEZ6L2 antibody": "HP:5000032", + "Anti-SOX1 antibody": "HP:5000033", + "Anti-Sry-like high mobility group box (SOX) 1 antibody": "HP:5000033", + "Anti-Tr/DNER antibody": "HP:5000034", + "Anti-delta/notch-like epidermal growth factor-related receptor antibody": "HP:5000034", + "PCA-Tr": "HP:5000034", + "Anti-TRIM46 antibody": "HP:5000035", + "Anti-TRIM9/TRIM67 antibody": "HP:5000036", + "Anti-Yo antibody positivity": "HP:5000037", + "Anti-Purkinje cell cytoplasmic antibody 1": "HP:5000037", + "Anti-titin antibody positivity": "HP:5000038", + "Anti-Zic4 antibody positivity": "HP:5000039", + "obsolete Anti-CRMP5 antibody positivity": "HP:5000041", + "Anti-Sj/ITPR1 antibody": "HP:5000042", + "Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody": "HP:5000042", + "Anti-D2 R antibody": "HP:5000043", + "Anti-dopamine-2 receptors (D2R) antibody": "HP:5000043", + "Anti-GluK2 antibody": "HP:5000044", + "Anti-glutamate kainate receptor subunit 2 antibody": "HP:5000044", + "obsolete Anti-MuSK antibody positivity": "HP:5000045", + "Anti-Lrp4 antibody positivity": "HP:5000046", + "Anti-low-density lipoprotein receptor-related protein 4 antibody": "HP:5000046", + "Anti-ryanodine receptor antibody": "HP:5000047", + "Anti-RyR antibody": "HP:5000047", + "Anti-Kv1.4 antibody": "HP:5000048", + "Selective mutism": "HP:5200001", + "Limited repertoire of facial expression": "HP:5200002", + "Reduced range of facial expressions": "HP:5200002", + "Excessive interest in others": "HP:5200003", + "obsolete Reduced response to another's attempt to get direct attention": "HP:5200004", + "Abnormal pitch": "HP:5200005", + "Disjointed sentences": "HP:5200006", + "Loose association": "HP:5200006", + "Neologism": "HP:5200007", + "Overly formal/pedantic language": "HP:5200008", + "Midline hand movements": "HP:5200009", + "Abnormal Intonation": "HP:5200010", + "Abnormal speech rate": "HP:5200011", + "Abnormal speech rhythm": "HP:5200012", + "Ambiguous facial expression": "HP:5200013", + "Exaggerated facial expression": "HP:5200014", + "Muted facial expression": "HP:5200015", + "Flat facial expression": "HP:5200015", + "Abnormal peer relationships": "HP:5200016", + "Stereotypic movements of face and head": "HP:5200017", + "Stereotypic upper-extremity movements": "HP:5200018", + "Stereotypic whole-body movements": "HP:5200019", + "Abnormal interest in others": "HP:5200020", + "Reduced social insight": "HP:5200021", + "Abnormal social awareness": "HP:5200021", + "Abnormal social understanding": "HP:5200021", + "Reduced awareness of convention": "HP:5200022", + "Abnormal relationship": "HP:5200024", + "obsolete Abnormal social awareness": "HP:5200025", + "Impaired social imitation": "HP:5200026", + "Decreased imitation of others": "HP:5200026", + "Reduced immediate imitation of others": "HP:5200026", + "Infrequent social initiations": "HP:5200027", + "Infrequent attempts to direct the attention of another person": "HP:5200027", + "Reduced attempt to get or direct the attention of another person": "HP:5200027", + "Reduced social initiation": "HP:5200027", + "Reduced responsiveness to social cues": "HP:5200028", + "Reduced response to social cues": "HP:5200028", + "Lack of response to verbal cues": "HP:5200028", + "Reduced responsiveness to verbal cues": "HP:5200028", + "Social disinhibition": "HP:5200029", + "Diminished integration of verbal and non-verbal communicative behavior": "HP:5200030", + "obsolete Deferred imitation of others": "HP:5200031", + "obsolete Reduced immediate imitation of others": "HP:5200032", + "Reduced cooperative imaginative play": "HP:5200035", + "Reduced collaborative imaginative play": "HP:5200035", + "obsolete Reduced responsiveness to verbal cues": "HP:5200036", + "Lack of expressed empathy": "HP:5200037", + "Lack of empathy": "HP:5200037", + "Lack of expressed sympathy": "HP:5200037", + "Reduced empathic arousal": "HP:5200037", + "Reduced sympathetic expression": "HP:5200037", + "Bradylalia": "HP:5200038", + "Bradylogia": "HP:5200038", + "Slow speech": "HP:5200038", + "Excessively loud speech": "HP:5200039", + "Speech too loud for context": "HP:5200039", + "Excessively quiet speech": "HP:5200040", + "Excessively quiet voice": "HP:5200040", + "Excessively soft voice": "HP:5200040", + "Speech to soft for context": "HP:5200040", + "Abnormal speech volume": "HP:5200043", + "Reduced attention regulation": "HP:5200044", + "Reduced impulse control": "HP:5200045", + "Impaired self-restraint": "HP:5200045", + "Sensory behavioral abnormality": "HP:5200046", + "Idiosyncratic gesture": "HP:5200047", + "Atypical sorting": "HP:5200049", + "Arranging": "HP:5200049", + "Ordering": "HP:5200049", + "Excessive checking": "HP:5200050", + "Checking behaviors": "HP:5200050", + "Checking behaviours": "HP:5200050", + "Excessive hand washing": "HP:5200051", + "Resistance to trivial environmental changes": "HP:5200052", + "obsolete Reduced nonverbal responsiveness to verbal cues": "HP:5200053", + "obsolete Reduced verbal responsiveness to verbal cues": "HP:5200054", + "Reduced co-speech gestures": "HP:5200055", + "Limited head nodding or shaking": "HP:5200056", + "Limited pointing": "HP:5200057", + "Sensory hypersensitivity": "HP:5200058", + "Sensory hyposensitivity unexplained by sensory deficit": "HP:5200059", + "Auditory hypersensitivity": "HP:5200060", + "Loudness intolerance": "HP:5200060", + "Sensitivity to noise": "HP:5200060", + "Tactile hypersensitivity": "HP:5200061", + "Auditory sensory seeking": "HP:5200062", + "Gustatory sensory seeking": "HP:5200063", + "Olfactory sensory seeking": "HP:5200064", + "Smell seeking": "HP:5200064", + "Tactile sensory seeking": "HP:5200065", + "Vestibular sensory seeking": "HP:5200066", + "Visual sensory seeking": "HP:5200067", + "Socially inappropriate questioning": "HP:5200068", + "Spinning": "HP:5200069", + "Twirling": "HP:5200069", + "Delayed Echolalia": "HP:5200071", + "Immediate Echolalia": "HP:5200072", + "Excessive cleaning": "HP:5200073", + "Facial expressions not directed to others": "HP:5200100", + "Limited Repertoire of gestures": "HP:5200101", + "Reduced social smiling": "HP:5200102", + "obsolete Reduced social responsiveness": "HP:5200103", + "Abnormal play": "HP:5200104", + "Reduced imaginative play skills": "HP:5200105", + "Nonfunctional or atypical use of objects in play": "HP:5200108", + "Infrequent social engagement with peers": "HP:5200110", + "Aloneness": "HP:5200110", + "Infrequent attempting to engage peers": "HP:5200110", + "Marked preference for solitude": "HP:5200110", + "Poor social engagement": "HP:5200110", + "Prefers being alone": "HP:5200110", + "Avoidance of emotional intimacy": "HP:5200111", + "Failure to offer information to initiate social interaction": "HP:5200113", + "Difficulty understanding nonliteral meaning of conversation": "HP:5200116", + "Poor recognition of injustice": "HP:5200117", + "Difficulty recognizing another's emotions": "HP:5200118", + "Difficulty understanding humor": "HP:5200119", + "Abnormal social emotional interactions": "HP:5200120", + "Abnormality in emotional social interactions": "HP:5200120", + "Objectification of others": "HP:5200121", + "Treats people like objects": "HP:5200121", + "obsolete Difficulty communicating emotions": "HP:5200122", + "Abnormal response to social norms": "HP:5200123", + "Indifference to social norms": "HP:5200124", + "Aggression towards others": "HP:5200125", + "Aggression towards caregivers": "HP:5200126", + "Aggression toward non-caregivers": "HP:5200127", + "obsolete Deficit applying language skills across context": "HP:5200128", + "Abnormal rituals": "HP:5200129", + "Insistence on sameness": "HP:5200130", + "obsolete Reduced use of language for social purposes": "HP:5200131", + "Atypical sensory examination of objects": "HP:5200132", + "Intense attachment to unusual objects": "HP:5200133", + "Jumping": "HP:5200134", + "Bouncing": "HP:5200134", + "Hopping": "HP:5200134", + "Pogo-ing": "HP:5200134", + "Delay in the acquisition of cooperative play skills": "HP:5200135", + "Reduced social reciprocity with peers": "HP:5200136", + "obsolete Infrequent social engagement with peers": "HP:5200137", + "Olfactory hallucination": "HP:5200200", + "Hallucinations of smell": "HP:5200200", + "Smell hallucination": "HP:5200200", + "Gustatory hallucination": "HP:5200201", + "Hallucinations of taste": "HP:5200201", + "Taste hallucination": "HP:5200201", + "Abnormal interpretation of external stimuli": "HP:5200202", + "Proprioceptive hallucination": "HP:5200203", + "Disturbed perception with a stimulus": "HP:5200204", + "Illusions": "HP:5200205", + "Inattentiveness illusion": "HP:5200207", + "Illusions due to affect": "HP:5200208", + "Pareidolia": "HP:5200209", + "Autoscopy": "HP:5200210", + "Subjective eidetic images": "HP:5200211", + "Photographic memory": "HP:5200211", + "Amplification of social interactions": "HP:5200212", + "Amplified socialising": "HP:5200212", + "Amplified socializing": "HP:5200212", + "Increase in social interactions": "HP:5200212", + "Diminishment of emotional responsiveness": "HP:5200213", + "Diminishment of empathy": "HP:5200213", + "Somatic hallucination": "HP:5200214", + "Hallucination of bodily sensation": "HP:5200214", + "Somatic bodily hallucination": "HP:5200214", + "Visceral hallucination": "HP:5200215", + "Abnormal perceptual state": "HP:5200216", + "Depersonalization": "HP:5200217", + "Derealization": "HP:5200218", + "Decreased facial expression mirroring": "HP:5200220", + "Decreased facial expression reciprocity": "HP:5200220", + "Lack of facial mirroring": "HP:5200220", + "Diminishment of comfort with casual physical contact": "HP:5200221", + "Discomfort with physical contact": "HP:5200221", + "Discomfort with physical touch": "HP:5200221", + "Touch avoidance": "HP:5200221", + "Thought blocking": "HP:5200227", + "Thought withdrawal": "HP:5200227", + "Thought-blocking": "HP:5200227", + "Maladaptive fear-related cognitions": "HP:5200230", + "Abnormal fear": "HP:5200230", + "Abnormal fear-related cognitions": "HP:5200230", + "Hypervigilance": "HP:5200231", + "Phobia": "HP:5200232", + "Anticipatory anxiety": "HP:5200233", + "Flight of ideas": "HP:5200234", + "Clang associations": "HP:5200234", + "Distracted speech": "HP:5200234", + "Rhyming puns": "HP:5200234", + "obsolete Disordered formal thought process": "HP:5200235", + "Pronunciation difficulties": "HP:5200237", + "Vowel expressive impediment": "HP:5200238", + "Consonant expressive impediment": "HP:5200239", + "Delayed spoken language comprehension": "HP:5200240", + "Delayed verbal comprehension": "HP:5200240", + "Recurrent maladaptive behavior": "HP:5200241", + "Cognitive distortion": "HP:5200242", + "Abnormal change in social behavior": "HP:5200243", + "Abnormal demeanor": "HP:5200261", + "Abnormally increased volition": "HP:5200263", + "Abnormally increased energy": "HP:5200263", + "Abnormally increased motivation": "HP:5200263", + "Abnormally increased personal volitional state": "HP:5200263", + "Pressured speech": "HP:5200265", + "Excessive speech output": "HP:5200265", + "Leaden paralysis": "HP:5200267", + "obsolete Abnormal thought pattern": "HP:5200269", + "Grandiosity": "HP:5200270", + "Hopelessness": "HP:5200271", + "Exaggerated pessimism": "HP:5200271", + "Hopeless": "HP:5200271", + "Abnormal sadness": "HP:5200273", + "Sad": "HP:5200273", + "obsolete Abnormal motivation": "HP:5200275", + "Decreased need for sleep": "HP:5200276", + "Sleep-related breathing disorders": "HP:5200283", + "Difficult respiration during sleep": "HP:5200283", + "Bruxism during sleep": "HP:5200284", + "Grinding teeth during sleep": "HP:5200284", + "Nightmare disorder": "HP:5200287", + "Disturbing dreams": "HP:5200287", + "Sleep-related eating disorder": "HP:5200288", + "Consuming food while asleep": "HP:5200288", + "Nocturnal sleep-related eating disorder (NS-RED)": "HP:5200288", + "SRED": "HP:5200288", + "Sleep eating": "HP:5200288", + "Microsleep": "HP:5200289", + "Short duration sleep": "HP:5200289", + "Exploding head syndrome": "HP:5200290", + "REM sleep behavior disorder": "HP:5200291", + "RBD": "HP:5200291", + "REM sleep behaviour disorder": "HP:5200291", + "Rapid eye movement sleep behavior disorder": "HP:5200291", + "Rapid eye movement sleep behaviour disorder": "HP:5200291", + "Sleep enactment": "HP:5200291", + "Non-restorative sleep": "HP:5200292", + "Non-refreshing sleep": "HP:5200292", + "Disturbance during transitions between sleep and wake states": "HP:5200293", + "Sleep state switching": "HP:5200293", + "Sleep-wake transition disorders": "HP:5200293", + "Sexsomnia": "HP:5200294", + "Sexual behavior during sleep": "HP:5200294", + "Sexual behaviour during sleep": "HP:5200294", + "Periodic limb movements": "HP:5200295", + "Rhythmic limb movements during sleep": "HP:5200295", + "Abnormal hypnagogia": "HP:5200296", + "Abnormality falling asleep": "HP:5200296", + "Abnormal hypnopompia": "HP:5200297", + "Abnormal waking": "HP:5200297", + "Abnormal sleep architecture": "HP:5200298", + "Sleep architecture disturbances": "HP:5200298", + "Sleep stage disturbances": "HP:5200298", + "REM parasomnia": "HP:5200299", + "Disturbance in REM": "HP:5200299", + "Rapid eye movement parasomnia": "HP:5200299", + "Abnormal movement during sleep": "HP:5200300", + "Nocturnal myoclonus syndrome": "HP:5200300", + "Periodic limb movement disorder": "HP:5200300", + "Short N1 sleep": "HP:5200304", + "Short light sleep of NREM": "HP:5200304", + "Paradoxical insomnia": "HP:5200305", + "Disturbance in perception related to sleep": "HP:5200305", + "Sleep misperception": "HP:5200305", + "Sleep state misperception": "HP:5200305", + "Short N2 sleep": "HP:5200307", + "Short subdued state of NREM": "HP:5200307", + "Short N3 sleep": "HP:5200309", + "Short slow wave sleep": "HP:5200309", + "Diminishment of social interactions": "HP:5200310", + "Reduced, declined or lessened social interactions": "HP:5200310", + "Amplification of interpersonal communication": "HP:5200311", + "Heightened, amplified social expression and social connectedness": "HP:5200311", + "Increase in interpersonal communication": "HP:5200311", + "Amplification of relationship seeking": "HP:5200315", + "Extraversion": "HP:5200315", + "Increased seeking of relationships": "HP:5200315", + "Diminishment of interpersonal communication": "HP:5200316", + "A decline or reduced social expression and social connectedness": "HP:5200316", + "Decreased interpersonal communication": "HP:5200316", + "Diminishment of relationship seeking": "HP:5200320", + "Decreased seeking of relationships": "HP:5200320", + "Introversion": "HP:5200320", + "Self-isolation": "HP:5200320", + "Social isolation": "HP:5200320", + "Amplification of sexual behavior": "HP:5200321", + "Hypersexuality": "HP:5200321", + "Increase in sexual behavior": "HP:5200321", + "Increased sexual behavior": "HP:5200321", + "Increased sexual behaviour": "HP:5200321", + "Amplification of emotional expression": "HP:5200322", + "Increase in emotional expression": "HP:5200322", + "Increased emotional display": "HP:5200322", + "Amplification of emotional responsiveness": "HP:5200323", + "Increase in emotional responsiveness": "HP:5200323", + "Amplification of comfort with casual physical contact": "HP:5200325", + "Increase in comfort with casual physical contact": "HP:5200325", + "Diminishment of sexual behavior": "HP:5200327", + "Decreased sexual behavior": "HP:5200327", + "Decreased sexual behaviour": "HP:5200327", + "Hyposexuality": "HP:5200327", + "Diminishment of emotional expression": "HP:5200328", + "Decreased emotional display": "HP:5200328", + "Problematic alcohol consumption": "HP:5200329", + "Excessive alcohol consumption": "HP:5200329", + "Suicide behaviors": "HP:5200330", + "Sucidality": "HP:5200330", + "Suicidal actions": "HP:5200330", + "Addictive sedative use": "HP:5200331", + "Sedative addiction": "HP:5200331", + "Addictive non-substance behaviors": "HP:5200332", + "Addiction to a behavior": "HP:5200332", + "Addiction to a behaviour": "HP:5200332", + "Addiction to an activity": "HP:5200332", + "Addictive activity": "HP:5200332", + "Addictive spending behavior": "HP:5200333", + "Shopaholic": "HP:5200333", + "Shopping addiction": "HP:5200333", + "Spending addiction": "HP:5200333", + "Addictive gambling behavior": "HP:5200334", + "Gambling addiction": "HP:5200334", + "Addictive sex behavior": "HP:5200335", + "Sex addiction": "HP:5200335", + "Addictive video game use": "HP:5200336", + "Excessive video game playing": "HP:5200336", + "Video game addiction": "HP:5200336", + "Compulsive stealing": "HP:5200337", + "Kleptomania": "HP:5200337", + "Excessive fire setting": "HP:5200338", + "Pyromania": "HP:5200338", + "Self-cutting": "HP:5200339", + "Cutting": "HP:5200339", + "Deliberate cutting of skin": "HP:5200339", + "Self cutting": "HP:5200339", + "Addictive cannabis use": "HP:5200341", + "Addictive marijuana use": "HP:5200341", + "Cannabis addiction": "HP:5200341", + "Marijuana addiction": "HP:5200341", + "Autophagia": "HP:5200342", + "Self-consumption": "HP:5200342", + "Hypnagogic sleep paralysis": "HP:5200352", + "Inability to move while falling asleep": "HP:5200352", + "Predormital sleep paralysis": "HP:5200352", + "Hypnopompic sleep paralysis": "HP:5200353", + "Inability to move while awakening": "HP:5200353", + "Postdormital paralysis": "HP:5200353", + "Postdormital sleep paralysis": "HP:5200353", + "Sleep onset rapid eye movement period": "HP:5200356", + "SOREMP": "HP:5200356", + "Sleep-onset (REM) period": "HP:5200356", + "Sleep-onset rapid eye movement (REM) period": "HP:5200356", + "Prolonged N1 sleep": "HP:5200357", + "Prolonged N2 sleep": "HP:5200358", + "Prolonged N3 sleep": "HP:5200359", + "Short REM sleep": "HP:5200360", + "Short rapid eye movement sleep": "HP:5200360", + "Prolonged REM sleep": "HP:5200361", + "Prolonged rapid eye movement sleep": "HP:5200361", + "Short NREM sleep": "HP:5200362", + "Prolonged NREM sleep": "HP:5200363", + "Abnormal judgment": "HP:5200401", + "Abnormal beliefs": "HP:5200401", + "Overvalued idea": "HP:5200402", + "Overvalued ideas": "HP:5200402", + "Time agnosia": "HP:5200403", + "Olfactory agnosia": "HP:5200405", + "Tactile agnosia": "HP:5200406", + "Topographical agnosia": "HP:5200407", + "Delusional memory": "HP:5200409", + "Retrospective delusion": "HP:5200409", + "Auditory agnosia": "HP:5200410", + "Gustatory agnosia": "HP:5200411", + "Allesthesia": "HP:5200412", + "Autotopagnosia": "HP:5200413", + "Persecutory delusion": "HP:5200415", + "Delusion of persecution": "HP:5200415", + "Morbid jealousy": "HP:5200416", + "Delusion of infidelity": "HP:5200416", + "Pathological jealousy": "HP:5200416", + "Grandiose delusion": "HP:5200417", + "Megalomania": "HP:5200417", + "Folie \u00e0 deux": "HP:5200418", + "Shared psychosis": "HP:5200418", + "Disorder of thought control": "HP:5200419", + "Delusion of control": "HP:5200419", + "Delusion of love": "HP:5200420", + "De Cl\u00e9rambault syndrome": "HP:5200420", + "Erotomania": "HP:5200420", + "Psychose passionelle": "HP:5200420", + "Nihilistic delusion": "HP:5200421", + "Cotard delusion": "HP:5200422", + "Cotard syndrome": "HP:5200422", + "Abnormal experience of reality": "HP:5200423", + "Delusional perception": "HP:5200424", + "Hypochondriac delusion": "HP:5200425", + "Munchhausen syndrome": "HP:5200425", + "Delusions of infestation": "HP:5200426", + "Ekbom's syndrome": "HP:5200426", + "Delusional atmosphere": "HP:5200427", + "Delusional mood": "HP:5200427", + "Delusional misidentification": "HP:5200428", + "Religious delusion": "HP:5200429", + "Abnormal psychotic pattern": "HP:5200430", + "Incomplete unilateral cleft lip": "HP:5201000", + "Complete unilateral cleft lip": "HP:5201001", + "Microform unilateral cleft lip": "HP:5201002", + "Complete cleft hard palate": "HP:5201003", + "Incomplete cleft hard palate": "HP:5201004", + "Complete cleft soft palate": "HP:5201005", + "Incomplete cleft soft palate": "HP:5201006", + "Incomplete cleft maxillary alveolar ridge": "HP:5201007", + "Complete cleft maxillary alveolar ridge": "HP:5201008", + "Complete cleft of the upper lip": "HP:5201009", + "Microform cleft of the upper lip": "HP:5201010", + "Complete bilateral cleft lip": "HP:5201011", + "Incomplete bilateral cleft lip": "HP:5201012", + "Microform bilateral cleft lip": "HP:5201013", + "Asymmetric bilateral cleft lip": "HP:5201014", + "Craniofacial cleft": "HP:5201015", + "Submucous cleft palate": "HP:5201016", + "Submucosal cleft palate": "HP:5201016", + "Submucous clefting": "HP:5201016", + "Left-right disorientation": "HP:6000000", + "Left-right confusion": "HP:6000000", + "Right-left confusion": "HP:6000000", + "Right-left disorientation": "HP:6000000", + "Elevated circulating DNAJB9 protein concentration": "HP:6000001", + "DNAJB9 protein level in serum elevated": "HP:6000001", + "Olecranon fracture": "HP:6000002", + "History of mastectomy": "HP:6000003", + "Lymphangiosarcoma": "HP:6000004", + "Exposure to inhaled lipids": "HP:6000005", + "Holster sign": "HP:6000006", + "Salivary basal cell adenoma": "HP:6000007", + "Hemidiaphragm elevation": "HP:6000008", + "Elevated hemidiaphragm": "HP:6000008", + "Cerebriform connective tissue nevus": "HP:6000009", + "Linear Hyperpigmentation along Blaschko's lines": "HP:6000010", + "Excessive guilt": "HP:6000011", + "Mediastinal shift": "HP:6000012", + "Bendopnea": "HP:6000013", + "Pain worse when lying flat": "HP:6000014", + "Pain worse when lying down": "HP:6000014", + "Tympanic membrane hypermobility": "HP:6000015", + "Elevated circulating vitamin B12 concentration": "HP:6000016", + "Elevated plasma vitamin B12 level": "HP:6000016", + "Elevated serum cobalamin level": "HP:6000016", + "Elevated serum vitamin B12 level": "HP:6000016", + "Elevated circulating soluble FASL concentration": "HP:6000017", + "Internal anal sphincter achalasia": "HP:6000018", + "Anal achalasia": "HP:6000018", + "Anthracycline exposure": "HP:6000019", + "Binge drinking": "HP:6000020", + "Decreased circulating thrombopoietin concentration": "HP:6000021", + "Collagenoma": "HP:6000022", + "Lack of sufficient daily physical activity": "HP:6000023", + "physical inactivity": "HP:6000023", + "Synesthesia": "HP:6000024", + "Dark cerumen": "HP:6000025", + "Dark earwax": "HP:6000025", + "Pigmented cerumen": "HP:6000025", + "History of spicy food intake": "HP:6000026", + "Oil-drop brown pigmentation of the corneal limbus": "HP:6000027", + "Hazardous alcohol use": "HP:6000028", + "Social anxiety": "HP:6000029", + "Placidity": "HP:6000030", + "Phaeohyphomycosis": "HP:6000031", + "Autophony": "HP:6000032", + "High altitude exposure": "HP:6000033", + "History of recent hospitalization": "HP:6000034", + "Palpitations terminated by Valsava maneuver": "HP:6000035", + "Long telomere length": "HP:6000036", + "Elongated telomeres": "HP:6000036", + "Reduced circulating aromatic L-amino acid decarboxylase activity": "HP:6000037", + "Reduced circulating 5-hydroxytryptophan decarboxylase activity": "HP:6000037", + "Reduced circulating DOPA decarboxylase, activity": "HP:6000037", + "Subclavian artery stenosis": "HP:6000038", + "Pulsatile liver": "HP:6000039", + "Neuropathic pain": "HP:6000040", + "Repeated cold water exposure": "HP:6000041", + "Tinnitus exacerbated by swallowing": "HP:6000042", + "Rhythmic movements of the tympanic membrane": "HP:6000043", + "Elongated temporal styloid process": "HP:6000044", + "Temporal styloid process elongated": "HP:6000044", + "Ameliorated by nitroglycerin": "HP:6000045", + "Pulsus paradoxus": "HP:6000046", + "Kussmaul pulse": "HP:6000046", + "Paradoxical pulse": "HP:6000046", + "Paradoxical pulse volume": "HP:6000046", + "Chest pain triggered by palpation": "HP:6000047", + "Chest pain reproducible on palpation": "HP:6000047", + "Chest pain described as pressure": "HP:6000048", + "Chest pain described as ripping or tearing": "HP:6000049", + "Ameliorated by flexion": "HP:6000050", + "Located on the chest": "HP:6000051", + "Localized to the penis": "HP:6000052", + "Snowstorm pattern of uterus on ultrasound": "HP:6000053", + "Multiparity": "HP:6000054", + "Exposure to aquatic animals": "HP:6000055", + "Superficial blush-like subcutaneous fatty lesions": "HP:6000056", + "Dermal multinucleated giant cells": "HP:6000057", + "Multinucleated giant cells in skin": "HP:6000057", + "Exacerbation of eyelid lesion by crying": "HP:6000058", + "Localized to upper eyelid": "HP:6000059", + "Aerophagia": "HP:6000060", + "Vaginal passage of hydatidiform mole tissue": "HP:6000061", + "Solid tissue passed by the vagina": "HP:6000061", + "Abnormal nipple discharge": "HP:6000062", + "Hepatolithiasis": "HP:6000063", + "Excessive eructation": "HP:6000064", + "Excessive belching": "HP:6000064", + "Excessive burping": "HP:6000064", + "Esophageal fibrosis": "HP:6000065", + "Triggered by extension of leg": "HP:6000066", + "Straight leg raising produces pain": "HP:6000066", + "Increased myocardial pyrophosphate uptake": "HP:6000067", + "Ameliorated by nerve block": "HP:6000068", + "Brief tear break-up time": "HP:6000069", + "Cutaneous granuloma": "HP:6000070", + "Heterotopic dermal ossification": "HP:6000071", + "Thinning of outer muscular layer of small bowel": "HP:6000072", + "Renal lymphangiectasia": "HP:6000073", + "Hygroma renale": "HP:6000073", + "Peripelvic lymphangiectasia": "HP:6000073", + "Renal lymphangiomatosis": "HP:6000073", + "Pharyngeal myxoma": "HP:6000074", + "Subcutaneous arteriolar thrombosis": "HP:6000075", + "Renal vasculitis": "HP:6000076", + "Pancreatic islet beta cell iron deposition": "HP:6000077", + "Nasal hamartoma": "HP:6000078", + "Metachromatic intraneuronal lipid deposits": "HP:6000079", + "Peripheral nerve metachromasia": "HP:6000079", + "Reduced phosphoserine phosphatase activity in cultured fibroblasts": "HP:6000080", + "Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts": "HP:6000081", + "Alpha-aminoadipic semialdehyde synthase low in fibroblasts": "HP:6000081", + "Reduced hepatic beta-ureidopropionase activity": "HP:6000082", + "Liver biopsy: beta-ureidopropionase activity low": "HP:6000082", + "Reduced hepatic dihydropyrimidinase activity": "HP:6000083", + "Sunken fontanelle": "HP:6000084", + "Angulation of penis": "HP:6000085", + "Bent penis": "HP:6000085", + "History of urethral procedure or catheterization": "HP:6000086", + "Penile swelling": "HP:6000087", + "Penile edema": "HP:6000087", + "Penile oedema": "HP:6000087", + "Reduced muscle alpha-1,4-glucosidase activity": "HP:6000088", + "Brown tumor": "HP:6000089", + "Osteitis fibrosa cystica": "HP:6000089", + "Dermal flame figures": "HP:6000090", + "Postpartum exacerbation": "HP:6000091", + "Symptoms worsen in post-partum state": "HP:6000091", + "Retinoid exposure": "HP:6000092", + "Exposure to retinoids": "HP:6000092", + "Propylthiouracil exposure": "HP:6000093", + "Exposure to propylthiouracil": "HP:6000093", + "History of outdoor activities": "HP:6000094", + "Draining sinus tract in skin": "HP:6000095", + "Discharging sinus": "HP:6000095", + "Draining tract in skin": "HP:6000095", + "Tract under skin draining associated abscess": "HP:6000095", + "Corneal transplant history": "HP:6000096", + "History of corneal transplantation": "HP:6000096", + "Spontaneous lens capsule rupture": "HP:6000097", + "Contact lens wearer": "HP:6000098", + "Airway mucosal thickening": "HP:6000099", + "Hyperpolarized transepithelial nasal potential difference": "HP:6000100", + "Corneopalpebral synechiae": "HP:6000101", + "Breast intraductal papilloma": "HP:6000102", + "Precipitous labor": "HP:6000103", + "Precipitous delivery": "HP:6000103", + "Twin pregnancy": "HP:6000104", + "Vaginal mass": "HP:6000105", + "Costovertebral angle tenderness": "HP:6000106", + "Costovertebral angle pain": "HP:6000106", + "Cervical motion tenderness": "HP:6000107", + "Chandelier sign": "HP:6000107", + "Abnormal urethral discharge": "HP:6000108", + "Abnormal penile discharge": "HP:6000108", + "Supernumerary finger flexion crease": "HP:6000109", + "Large joint predominance": "HP:6000110", + "Monoarticular": "HP:6000111", + "Hockey-stick palmar crease": "HP:6000112", + "Hockey-stick crease": "HP:6000112", + "Elevated urinary succinyladenosine level": "HP:6000113", + "Elevated urinary 5-hydroxymethyluracil level": "HP:6000114", + "5-hydroxymethyluracil high in urine": "HP:6000114", + "Decreased urine creatinine level": "HP:6000115", + "Elevated urinary deoxyuridine level": "HP:6000116", + "Deoxyuridine high in urine": "HP:6000116", + "obsolete Elevated urinary AICA-riboside level": "HP:6000117", + "Elevated urinary dihydrouracil level": "HP:6000118", + "Dihydrouracil high in urine": "HP:6000118", + "Elevated urinary dihydrothymine level": "HP:6000119", + "Dihydrothymine in urine high": "HP:6000119", + "Elevated urinary sulfatide level": "HP:6000120", + "Elevated urinary xanthurenic acid level": "HP:6000121", + "Increased urinary N-acetylglucosamine-rich oligosaccharide level": "HP:6000122", + "Elevated urinary 2'-deoxyadenosine level": "HP:6000123", + "2'-deoxyadenosine (dAdo) elevated in urine": "HP:6000123", + "Elevated urinary dAdo level": "HP:6000123", + "Positive 2,4-dinitrophenylhydrazine urine test": "HP:6000124", + "Elevated urinary dolichol level": "HP:6000125", + "Dolichol levels high in urine": "HP:6000125", + "Decreased urinary bile acid level": "HP:6000126", + "Elevated urinary creatine/creatinine ratio": "HP:6000127", + "Increased urine Cr/Crn ratio": "HP:6000127", + "Elevated urinary thymidine level": "HP:6000128", + "Elevated urinary glutarylglycine level": "HP:6000129", + "Elevated urinary indican level": "HP:6000130", + "Dacrolith": "HP:6000131", + "Lacrimal calculus": "HP:6000131", + "Tear stone": "HP:6000131", + "Reduced erythrocyte gamma-glutamyl cysteine synthetase activity": "HP:6000132", + "Gamma-glutamyl cysteine synthetase low in erythrocytes": "HP:6000132", + "Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity": "HP:6000133", + "NADH-cytochrome b5 reductase low": "HP:6000133", + "Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts": "HP:6000134", + "Low semen volume": "HP:6000135", + "Hypospermia": "HP:6000135", + "Elbow localization": "HP:6000136", + "Enlarged lunula": "HP:6000137", + "Macrolunula": "HP:6000137", + "Nails: lunulae enlarged": "HP:6000137", + "Heel localization": "HP:6000138", + "Heel predominance": "HP:6000138", + "Splinter hemorrhages": "HP:6000139", + "Lateral thrust": "HP:6000140", + "Varus thrust": "HP:6000140", + "Cerebral contusion": "HP:6000141", + "Fecolith": "HP:6000142", + "Coprolith": "HP:6000142", + "Fecaloma": "HP:6000142", + "Stercolith": "HP:6000142", + "Appendicitis": "HP:6000143", + "Left ventricular aneurysm": "HP:6000144", + "Boot-shaped cardiac silhouette": "HP:6000145", + "Boot shaped cardiac silhouette": "HP:6000145", + "Hydrosalpinx": "HP:6000146", + "Elevated methylhex-dienedioic level by MRS": "HP:6000147", + "Perihepatic enhancement": "HP:6000148", + "Peri-hepatic enhancement": "HP:6000148", + "Reduced in vitro contracture test threshold": "HP:6000149", + "Caffeine in vitro contracture test positive": "HP:6000149", + "Halothane in vitro contracture test positive": "HP:6000149", + "Reduced F-wave amplitude": "HP:6000150", + "Enlarged peroxisomes": "HP:6000151", + "Peroxisomal enlargement": "HP:6000151", + "Adrenocortical hyperplasia": "HP:6000152", + "Lymphocytic infiltration of the parotid gland": "HP:6000153", + "Bone marrow granuloma": "HP:6000154", + "Neuronal intranuclear inclusion bodies": "HP:6000155", + "Pancreatic atrophy": "HP:6000156", + "Decreased pancreatic acinar cell density": "HP:6000157", + "Pancreatic biopsy: acinar structures reduced": "HP:6000157", + "Unesterified cholesterol accumulation in cultured fibroblasts": "HP:6000158", + "Positive filipin test": "HP:6000158", + "Hepatic lipid-laden macrophage infiltration": "HP:6000159", + "Foamy cells on hepatic biopsy": "HP:6000159", + "Liver biopsy: lipid-laden macrophages": "HP:6000159", + "Splenic lipid-laden macrophage infiltration": "HP:6000160", + "Spleen biopsy: lipid-laden macrophages": "HP:6000160", + "Splenic foamy cells": "HP:6000160", + "Reduced hepatic N-acetylglutamate synthase activity": "HP:6000161", + "Excessive licorice consumption": "HP:6000162", + "Shoulder localization": "HP:6000163", + "Pregnancy conceived despite intrauterine device": "HP:6000164", + "Maternal folate deficiency": "HP:6000165", + "Maternal zinc deficiency": "HP:6000166", + "Use of intrauterine device": "HP:6000167", + "History of recent central venous catheter": "HP:6000168", + "History of total parenteral nutrition dependence": "HP:6000169", + "Pain alleviated by testicle elevation": "HP:6000170", + "Prehn's sign": "HP:6000170", + "Testicle elevation relieves pain": "HP:6000170", + "Abdominal wall mass": "HP:6000171", + "Tympanic membrane bulging": "HP:6000172", + "Ear pain exacerbated by manipulating tragus or pinna": "HP:6000173", + "Lateral neck mass": "HP:6000174", + "Occipital location": "HP:6000175", + "Anterior neck swelling": "HP:6000176", + "Uvular swelling": "HP:6000177", + "obsolete Purulent drainage from Stensen duct": "HP:6000178", + "History of gastric bypass surgery": "HP:6000179", + "Triggered by volatile organic compounds": "HP:6000180", + "History of radiation therapy": "HP:6000181", + "Absent otoacoustic emissions": "HP:6000182", + "Thickened tympanic membrane": "HP:6000183", + "Filum terminale lipoma": "HP:6000184", + "Fatty filum terminale": "HP:6000184", + "LFT": "HP:6000184", + "Lipoma of filum terminale": "HP:6000184", + "Lipoma of the filum terminale": "HP:6000184", + "Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio": "HP:6000185", + "Anti-soluble liver antigen/liver pancreas antibody positivity": "HP:6000186", + "Anti-SLA/LP": "HP:6000186", + "Anti-thrombospondin type I domain-containing 7A antibody positivity": "HP:6000187", + "Anti-THSD7A antibody": "HP:6000187", + "Anti-THSD7A antibody present in blood": "HP:6000187", + "Antisperm antibody positivity": "HP:6000188", + "Decreased circulating ficolin 3 concentration": "HP:6000189", + "Abnormal seminal vesicle morphology": "HP:6000190", + "Seminal vesicle cyst": "HP:6000191", + "Silica dust exposure": "HP:6000192", + "Anti-osteoprotegerin antibody positivity": "HP:6000193", + "Anti-OPG antibody positivity": "HP:6000193", + "History of adrenalectomy": "HP:6000194", + "Elevated mitochondrial citrate synthase activity": "HP:6000195", + "Reduced muscle lactate dehydrogenase activity": "HP:6000196", + "Muscle biopsy: lactate dehydrogenase low": "HP:6000196", + "Reduced muscle phosphoglycerate mutase activity": "HP:6000197", + "Reduced muscle phosphorylase kinase activity": "HP:6000198", + "Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts": "HP:6000199", + "Reduced hepatic glucose-6-phosphatase activity": "HP:6000200", + "Reduced hepatic glucose-6-phosphate translocase activity": "HP:6000201", + "Cerebrospinal fluid erythrocytes": "HP:6000202", + "Elevated CSF cholestanol concentration": "HP:6000203", + "Elevated CSF cholestanol": "HP:6000203", + "Elevated CSF apolipoprotein B concentration": "HP:6000204", + "Apolipoprotein B high in CSF": "HP:6000204", + "Elevated CSF myelin basic protein concentration": "HP:6000205", + "Myelin basic protein high in CSF": "HP:6000205", + "Reduced CSF pyridoxal-5'-phosphate concentration": "HP:6000206", + "Pyridoxal-5'-phosphate low in CSF": "HP:6000206", + "Elevated CSF thymine concentration": "HP:6000207", + "Thymine high in CSF": "HP:6000207", + "Elevated CSF 5-hydroxymethyluracil concentration": "HP:6000208", + "5-hydroxymethyluracil high in CSF": "HP:6000208", + "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration": "HP:6000209", + "N-carbamyl-beta-aminoisobutyric acid high in CSF": "HP:6000209", + "Elevated CSF N-carbamyl-beta-alanine concentration": "HP:6000210", + "N-carbamyl-beta-alanine high in CSF": "HP:6000210", + "Elevated CSF dihydrouracil concentration": "HP:6000211", + "Dihydrouracil high in CSF": "HP:6000211", + "Elevated CSF dihydrothymine concentration": "HP:6000212", + "Dihydrothymine high in CSF": "HP:6000212", + "Elevated circulating Angiotensin-converting enzyme concentration": "HP:6000213", + "Angiotensin-converting enzyme (ACE) high in blood": "HP:6000213", + "Decreased 3-hydroxyisobutyrate dehydrogenase activity": "HP:6000214", + "Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity": "HP:6000215", + "3-hydroxyisobutyryl-CoA hydrolase deficiency": "HP:6000215", + "Reduced HMG-CoA lyase activity in cultured fibroblasts": "HP:6000216", + "Reduced circulating acyl-CoA oxidase activity": "HP:6000217", + "Reduced circulating xanthine oxidase activity": "HP:6000218", + "Xanthine oxidase low": "HP:6000218", + "Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts": "HP:6000219", + "Methylmalonic semialdehyde dehydrogenase deficiency": "HP:6000219", + "Pharyngeal mass": "HP:6000220", + "Positive stool occult blood test": "HP:6000221", + "Positive faecal occult blood test": "HP:6000221", + "Positive fecal occult blood test": "HP:6000221", + "Painful defecation": "HP:6000222", + "Pain associated with bowel movements": "HP:6000222", + "Recent history of caustic substance ingestion": "HP:6000223", + "Delayed passage of meconium": "HP:6000224", + "Single second heart sound": "HP:6000225", + "Elevated aortic transvalvular pressure gradient": "HP:6000226", + "Prosthetic heart valve": "HP:6000227", + "Failure to increase oxygen saturation on hyperoxia test": "HP:6000228", + "High-set nipples": "HP:6000229", + "Decreased muscle caveolin-3 level": "HP:6000230", + "Decreased muscle caveolin-3 expression": "HP:6000230", + "Abnormal tissue enzyme concentration or activity": "HP:6000231", + "Abnormal tissue enzyme activity": "HP:6000231", + "Splenic necrosis": "HP:6000232", + "Carcinoid tumor of the pancreas": "HP:6000233", + "Elevated circulating dihydroxyphenylacetic acid concentration": "HP:6000234", + "Elevated circulating DOPAC concentration": "HP:6000234", + "Inappropriately low concentration of acetoacetate": "HP:6000235", + "Inappropriately low concentration of beta-hydroxybutyrate": "HP:6000236", + "Elevated circulating 3-hydroxybutyryl-carnitine concentration": "HP:6000237", + "Elevated CSF 5-amino-4-imidazolecarboxyamide concentration": "HP:6000238", + "Elevated CSF AICA-riboside concentration": "HP:6000238", + "Elevated circulating tumor necrosis factor alpha concentration": "HP:6000239", + "Reduced circulating pyrimidine 5-prime-nucleotidase activity": "HP:6000240", + "Diminished prolactin response to thyrotrophin-releasing hormone stimulation": "HP:6000241", + "Decreased circulating complement component 1s concentration": "HP:6000242", + "C1s low in blood": "HP:6000242", + "Reduced circulating cortisol-binding globulin concentration": "HP:6000243", + "Decreased circulating thyroglobulin concentration": "HP:6000244", + "Elevated circulating granulocyte-macrophage colony-stimulating factor concentration": "HP:6000245", + "Elevated circulating GM-CSF concentration": "HP:6000245", + "GMCSF high in blood": "HP:6000245", + "Elevated CSF D-2-hydroxyglutaric acid concentration": "HP:6000246", + "Esophageal mass": "HP:6000247", + "Synovial fluid crystals": "HP:6000248", + "Enlarged gastric folds": "HP:6000249", + "Giant gastric folds": "HP:6000249", + "Gastric intraepithelial lymphocytosis": "HP:6000250", + "Small intestinal intraepithelial lymphocytosis": "HP:6000251", + "Fetal lung hyperechogenicity": "HP:6000252", + "Necrotizing vasculitis": "HP:6000253", + "Abnormal proximal convoluted tubule morphology": "HP:6000254", + "Demonstration of Leishmania in tissue": "HP:6000255", + "Pneumocystis cysts in respiratory secretions": "HP:6000256", + "Spinal cord granuloma": "HP:6000257", + "Impaired folate absorption": "HP:6000258", + "Positive hydrogen breath test": "HP:6000259", + "Positive glucose hydrogen breath test": "HP:6000259", + "Positive glucose or lactulose hydrogen breath test": "HP:6000259", + "Positive lactulose hydrogen breath test": "HP:6000259", + "History of recent plant thorn skin puncture": "HP:6000260", + "Absent circulating immunoglobulin kappa chain": "HP:6000261", + "Pseudoglioma": "HP:6000262", + "Papillary dermal edema": "HP:6000263", + "Fetal tachycardia": "HP:6000264", + "Elevated urinary 3-hydroxykynurenine level": "HP:6000265", + "2-oxoadipic aciduria": "HP:6000266", + "Alpha-oxoadipic acid high in urine": "HP:6000266", + "Elevated circulating methionine sulfoxide concentration": "HP:6000267", + "Elevated circulating pipecolic acid concentration": "HP:6000268", + "Hyperpipecolatemia": "HP:6000268", + "Pipecolic acid high in blood": "HP:6000268", + "Elevated urinary pipecolic acid level": "HP:6000269", + "Elevated CSF saccharopine concentration": "HP:6000270", + "Saccharopine present in CSF": "HP:6000270", + "Elevated circulating glycylproline concentration": "HP:6000271", + "Elevated circulating octanoylcarnitine concentration": "HP:6000272", + "Elevated circulating C8:0 acylcarnitine concentration": "HP:6000272", + "Elevated circulating decanoylcarnitine concentration": "HP:6000273", + "C10: decanoylcarnitine high in blood": "HP:6000273", + "Elevated circulating C10:0 acylcarnitine concentration": "HP:6000273", + "2--hydroxyphenylacetic aciduria": "HP:6000274", + "4-hydroxyphenyllactic aciduria": "HP:6000275", + "obsolete Elevated urinary beta-alanine level": "HP:6000276", + "Elevated CSF beta-alanine concentration": "HP:6000277", + "Elevated circulating 2-aminoadipic acid concentration": "HP:6000278", + "Elevated urinary N-carbamoyl-beta-alanine level": "HP:6000279", + "Elevated CSF cystathionine concentration": "HP:6000280", + "Elevated urinary gamma-glutamylphenylalanine level": "HP:6000281", + "Elevated circulating aspartylglucosamine concentration": "HP:6000282", + "Aspartylglucosamine high in blood": "HP:6000282", + "Elevated urinary saccharopine level": "HP:6000283", + "Tectal plate enlargement": "HP:6000284", + "Quadrigeminal plate enlargement": "HP:6000284", + "Tectal enlargement": "HP:6000284", + "Retroperitoneal mass": "HP:6000285", + "Focal T1 hyperintense brainstem lesion": "HP:6000286", + "Subchondral fracture": "HP:6000287", + "Deep neck abscess": "HP:6000288", + "Epiglottic enlargement": "HP:6000289", + "Epiglottis thumb sign": "HP:6000289", + "Swollen epiglottis": "HP:6000289", + "Prevertebral space enlargement": "HP:6000290", + "Increased pre-vertebral space": "HP:6000290", + "Third cranial nerve thickening": "HP:6000291", + "Oculomotor nerve thickening": "HP:6000291", + "Elevated tissue sphingomyelin concentration": "HP:6000292", + "History of recent iodated contrast medium administration": "HP:6000293", + "Difficulty passing nasogastric tube": "HP:6000294", + "Persistent falcine venous sinus": "HP:6000295", + "Penis uncircumcised": "HP:6000296", + "Foreskin present": "HP:6000296", + "Prepuce present": "HP:6000296", + "History of facial cosmetic use": "HP:6000297", + "Use of makeup on face": "HP:6000297", + "Snapping sensation at metacarpophalangeal joint": "HP:6000298", + "Forearm pain": "HP:6000299", + "Rotational fracture": "HP:6000300", + "Localized over bony prominences": "HP:6000301", + "History of compressive footwear": "HP:6000302", + "Decreased skin turgor": "HP:6000303", + "Recent foraged mushroom consumption": "HP:6000304", + "Proximal to distal progression": "HP:6000305", + "Autonomic-voluntary dissociation of facial movements": "HP:6000306", + "Jaw mass": "HP:6000307", + "Excessive nocturnal light exposure": "HP:6000308", + "Menstruating female between menarche and menopause": "HP:6000309", + "Preterm premature rupture of membranes": "HP:6000310", + "PPROM": "HP:6000310", + "History of abdominal surgery": "HP:6000311", + "Thickened Descemet membrane": "HP:6000312", + "Thick Descemet membrane": "HP:6000312", + "Incomplete right bundle branch block": "HP:6000313", + "Perimenopausal onset": "HP:6000314", + "Postmenopausal onset": "HP:6000315", + "Spastic monoplegia": "HP:6000316", + "Mosaic attenuation pattern in lung": "HP:6000317", + "Elevated aldosterone:renin ratio": "HP:6000318", + "Meteorism": "HP:6000319", + "Failure to elevate ammonia on ischemic exercise": "HP:6000320", + "Labile Hypertension": "HP:6000321", + "Absent axon flare response after intradermal histamine injection": "HP:6000322", + "Reduced sympathoneural responses to the cold pressor test": "HP:6000323", + "Positive stool Giardia antigen test": "HP:6000324", + "Excessive blood loss during delivery": "HP:6000325", + "Cardiac valve vegetations": "HP:6000326", + "Thoracic cage flatness": "HP:6000327", + "Flat chest": "HP:6000327", + "Absent zona pellucida": "HP:6000328", + "Umbilical cord prolapse": "HP:6000329", + "Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine": "HP:6000330", + "Elevated urinary thymine level": "HP:6000331", + "Elevated urinary indoleacetic acid level": "HP:6000332", + "Reduced hepatic phosphorylase kinase activity": "HP:6000333", + "Decreased hepatic phosphorylase kinase activity": "HP:6000333", + "Reduced hepatic ornithine transcarbamylase activity": "HP:6000334", + "Elevated urinary quinolinic acid level": "HP:6000335", + "Rectal duplication": "HP:6000336", + "Thinned small intestinal mucosa": "HP:6000337", + "Seminal vesicle hypoplasia": "HP:6000338", + "Small fetal abdominal circumference": "HP:6000339", + "Prenatal flattened diaphragm": "HP:6000340", + "Snowflake effect in amniotic cavity": "HP:6000341", + "Snowflake sign": "HP:6000341", + "Thickened mitral valve cusp": "HP:6000342", + "Antiparietal cell antibody positivity": "HP:6000343", + "Anti-intrinsic factor antibody positivity": "HP:6000344", + "Anti-human immunodeficiency virus antibody positivity": "HP:6000345", + "Anti-HIV antibody positivity": "HP:6000345", + "Anti-polio virus antibody positivity": "HP:6000346", + "Anti-NR2A antibody positivity": "HP:6000347", + "Antistreptolysin O antibody positivity": "HP:6000348", + "Reduced tissue tissue AICAR transformylase activity": "HP:6000349", + "Ameliorated by gastric acid-reducing therapy": "HP:6000350", + "Anti-coagulation factor antibody positivity": "HP:6000351", + "Tachyphagia": "HP:6000352", + "Reduced tissue argininosuccinate synthetase activity": "HP:6000353", + "Reduced argininosuccinate synthetase activity in cultured fibroblasts": "HP:6000353", + "Reduced hepatic argininosuccinate synthetase activity": "HP:6000353", + "Reduced aspartoacylase activity in cultured fibroblasts": "HP:6000354", + "Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts": "HP:6000355", + "Reduced tissue medium-chain acyl-CoA dehydrogenase activity": "HP:6000356", + "Reduced MCAD activity in cultured fibroblasts": "HP:6000356", + "Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts": "HP:6000356", + "Reduced cystathionine beta-synthase activity in cultured fibroblasts": "HP:6000357", + "Reduced muscle glycogen phosphorylase activity": "HP:6000358", + "Reduced muscle 6-phosphofructokinase activity": "HP:6000359", + "Reduced tissue alpha-N-acetylglucosaminidase activity": "HP:6000360", + "Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts": "HP:6000361", + "Blunted aldosterone response to aldosterone suppression test": "HP:6000362", + "Flank mass": "HP:6000363", + "Synovial cyst": "HP:6000364", + "Brown pigmentation of the conjunctiva": "HP:6000365", + "Gastrocnemius contracture": "HP:6000366", + "Central thinning of the outer nuclear layer of the retina": "HP:6000367", + "Central thinning of the ONL": "HP:6000367", + "Sonographic renal salt and pepper pattern": "HP:6000368", + "Ductus venosus agenesis with intrahepatic drainage": "HP:6000369", + "Ductus venosus agenesis with extrahepatic drainage and liver bypass": "HP:6000370", + "Elevated circulating D-glyceric concentration": "HP:6000371", + "Elevated CSF D-glyceric acid concentration": "HP:6000372", + "D-glyceric acid high in CSF": "HP:6000372", + "Ameliorated by riboflavin": "HP:6000373", + "Increased circulating interleukin 1beta concentration": "HP:6000374", + "Reduced neutrophil myeloperoxidase activity": "HP:6000375", + "Jugular foramen stenosis": "HP:6000376", + "Intramural intestinal gas": "HP:6000377", + "Pneumatosis intestinalis": "HP:6000377", + "Delayed scintigraphic gallbladder filling": "HP:6000378", + "Pancreatic arteriovenous malformation": "HP:6000379", + "Anti-perilipin-1 antibody positivity": "HP:6000380", + "Splenic calcification": "HP:6000381", + "Short esophagus": "HP:6000382", + "Gastric perforation": "HP:6000383", + "Gastric rupture": "HP:6000383", + "Gastric volvulus": "HP:6000384", + "Elevated circulating soluble CD163 concentration": "HP:6000385", + "Positive cold agglutinin test": "HP:6000386", + "Anti-D-L antibody positivity": "HP:6000387", + "Anti-Donath-Landsteiner antibody positivity": "HP:6000387", + "Anti-erythrocyte autoantibody positivity": "HP:6000388", + "Antierythrocyte autoantibody positivity": "HP:6000388", + "Non-glucose reducing substance in urine": "HP:6000389", + "Elevated urinary succinylaminoimidazole carboxamide riboside level": "HP:6000390", + "Elevated urine hyaluronic acid level": "HP:6000391", + "Hyaluronic acid high in urine": "HP:6000391", + "Elevated urinary methylmalonylcarnitine level": "HP:6000392", + "Elevated urine trihydroxycholestanoic acid level": "HP:6000393", + "Elevated urine THCA level": "HP:6000393", + "Elevated urine trihydroxycoprostanic acid level": "HP:6000393", + "Elevated CSF ammonia concentration": "HP:6000394", + "Positive CSF VDRL test": "HP:6000395", + "Elevated CSF guanidinoacetic acid concentration": "HP:6000396", + "CSF oligoclonal immunoglobulin G bands": "HP:6000397", + "Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration": "HP:6000398", + "Elevated CSF alpha-crystallin B chain concentration": "HP:6000399", + "Alphabeta-crystallin high in CSF": "HP:6000399", + "Reduced CSF creatine concentration": "HP:6000400", + "Reduced circulating protein Z concentration": "HP:6000401", + "Elevated circulating 27-hydroxycholesterol concentration": "HP:6000402", + "Elevated circulating lysophosphatidylcholine concentration": "HP:6000403", + "Reduced circulating insulin-like growth factor 2 concentration": "HP:6000404", + "Decreased circulating nicotinamide adenine dinucleotide concentration": "HP:6000405", + "Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration": "HP:6000406", + "Elevated circulating fibroblast growth factor 23 concentration": "HP:6000407", + "Reduced CSF asparagine concentration": "HP:6000408", + "Pancreatic mass": "HP:6000409", + "Small intestine mass": "HP:6000410", + "Facial nerve compression": "HP:6000411", + "Compression of seventh cranial nerve": "HP:6000411", + "Pulmonary perfusion defect": "HP:6000412", + "Ectopic ureteral orifice": "HP:6000413", + "Duplicate uterine cervix": "HP:6000414", + "Cervical duplication": "HP:6000414", + "Intradural spinal lipoma": "HP:6000415", + "T2 hyperintense cerebellar lesion": "HP:6000416", + "T2 hyperintensities in cerebellum": "HP:6000416", + "Inferior vena cava obstruction": "HP:6000417", + "Rheumatoid nodule": "HP:6000418", + "Elevated circulating proinsulin concentration": "HP:6000419", + "Elevated plasma proinsulin": "HP:6000419", + "Burning eye sensation": "HP:6000420", + "Collarettes": "HP:6000421", + "Tympanic membrane bulla": "HP:6000422", + "Bullous myringitis": "HP:6000422", + "Tympanic membrane blister": "HP:6000422", + "Beard and mustache distribution": "HP:6000423", + "Kerion": "HP:6000424", + "Truncal location": "HP:6000425", + "Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts": "HP:6000426", + "Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts": "HP:6000427", + "Reduced alkyl-DHAP synthase activity in cultured fibroblasts": "HP:6000427", + "Glomerular fibronectin deposits": "HP:6000428", + "Renal tubular karyomegaly": "HP:6000429", + "Reduced tissue acetyl-CoA carboxylase activity": "HP:6000430", + "Reduced hepatic acetyl-CoA carboxylase activity": "HP:6000430", + "Elevated urinary glycolic acid level": "HP:6000431", + "Elevated urine propionic acid level": "HP:6000432", + "Elevated urinary butyric acid level": "HP:6000433", + "Elevated urinary isovaleric acid level": "HP:6000434", + "Elevated circulating alpha-ketoglutarate concentration": "HP:6000435", + "Alpha-ketoglutarate high in blood": "HP:6000435", + "Elevated circulating ghrelin concentration": "HP:6000436", + "Reduced circulating stearoylcarnitine concentration": "HP:6000437", + "Reduced urinary iodine level": "HP:6000438", + "Increased circulating interleukin 15 concentration": "HP:6000439", + "IL-15 high in blood": "HP:6000439", + "Reduced circulating squalene concentration": "HP:6000440", + "Abnormal circulating interleukin 6 concentration": "HP:6000441", + "Abnormal circulating interleukin 12 concentration": "HP:6000442", + "Elevated blood mercury concentration": "HP:6000443", + "Elevated blood cadmiun concentration": "HP:6000444", + "Elevated thallium concentration": "HP:6000445", + "Abnormal circulating CC chemokine concentration": "HP:6000446", + "Decreased CSF asialotransferrin to transferrin ratio": "HP:6000447", + "Anti-desmocollin antibody positivity": "HP:6000448", + "Occupational exposure to raw nonsynthetic textiles": "HP:6000449", + "Rokitansky-Aschoff gallbladder sinuses": "HP:6000450", + "Adenomyomatosis of the gallbladder": "HP:6000450", + "Epithelial invaginations of the gallbladder forming cystic pockets": "HP:6000450", + "Porcelain gallbladder": "HP:6000451", + "Calcified gallbladder": "HP:6000451", + "Calcifying cholecystitis": "HP:6000451", + "Cholecystopathia chronica calcarea": "HP:6000451", + "Gallbladder adhesions": "HP:6000452", + "Bilioduodenal fistula": "HP:6000453", + "Bouveret syndrome": "HP:6000453", + "Pneumobilia": "HP:6000454", + "Aerobilia": "HP:6000454", + "Air in the biliary system": "HP:6000454", + "Ectopic gallstone": "HP:6000455", + "Gallstone outside of the gallbladder": "HP:6000455", + "Sleep drunkeness": "HP:6000456", + "Mallory bodies": "HP:6000457", + "Mallory-Denk bodies": "HP:6000457", + "Sulfur-containing abscess": "HP:6000458", + "Retracted tympanic membrane": "HP:6000459", + "Ectopic testis": "HP:6000460", + "Cerebral subcortical cyst": "HP:6000461", + "Anti-ADAMTS13 antibody positivity": "HP:6000462", + "Habitual mouth breathing": "HP:6000463", + "Squared off shoulders": "HP:6000464", + "Elevated urine mesaconic acid level": "HP:6000465", + "Elevated urine 3-methyladipic acid level": "HP:6000466", + "Elevated urine D-lactate level": "HP:6000467", + "Elevated CSF alpha-ketoglutarate concentration": "HP:6000468", + "Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level": "HP:6000469", + "2-methyl-2,3-dihydroxybutyrate high in urine": "HP:6000469", + "Elevated urine 2-methyl-2,3-dihydroxybutyrate level": "HP:6000469", + "Fetal oral mass": "HP:6000470", + "Dilated ejaculatory duct": "HP:6000471", + "Ejaculatory duct dilated": "HP:6000471", + "Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells": "HP:6000472", + "Decreased FOXP3-expressing T cell count": "HP:6000473", + "Elevated circulating complement component concentration": "HP:6000474", + "Anti-beta fodrin antibody positivity": "HP:6000475", + "Elevated circulating tetradecenoylcarnitine concentration": "HP:6000476", + "Elevated urine 2-trans,4-cis-decadienoylcarnitine level": "HP:6000477", + "Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration": "HP:6000478", + "Elevated urine N-acetyltyrosine level": "HP:6000479", + "Elevated urine manganese level": "HP:6000480", + "Reduced urinary manganese level": "HP:6000481", + "Decreased circulating catecholamine concentration": "HP:6000482", + "Empty sella turcica": "HP:6000483", + "Arachnoidocele": "HP:6000483", + "Elevated brain guanidinoacetate level by MRS": "HP:6000484", + "Elevated circulating beta chorionic gonadotropin concentration": "HP:6000485", + "Elevated circulating CXCL10 concentration": "HP:6000486", + "Reduced circulating interleukin 12 concentration": "HP:6000487", + "Reduced circulating fibroblast growth factor 23 concentration": "HP:6000488", + "Fibroblast growth factor 23 hormone low in blood": "HP:6000488", + "Abnormal circulating fibroblast growth factor 23 concentration": "HP:6000489", + "Impaired heel-walking ability": "HP:6000490", + "Anti-prothrombin antibody positivity": "HP:6000491", + "Anti-FII antibody positivity": "HP:6000491", + "Anti-factor V antibody positivity": "HP:6000492", + "Anti-FV antibody positivity": "HP:6000492", + "Anti-factor VII antibody positivity": "HP:6000493", + "Anti-FVII antibody positivity": "HP:6000493", + "Anti-factor VIII antibody positivity": "HP:6000494", + "Anti-FVIII antibody positivity": "HP:6000494", + "Anti-factor IX antibody positivity": "HP:6000495", + "Anti-FIX antibody positivity": "HP:6000495", + "Anti-factor X antibody positivity": "HP:6000496", + "Anti-FX antibody positivity": "HP:6000496", + "Anti-factor XI antibody positivity": "HP:6000497", + "Anti-FXI antibody positivity": "HP:6000497", + "Anti-factor XIII antibody positivity": "HP:6000498", + "Anti-FXIII antibody positivity": "HP:6000498", + "Anti-factor H antibody positivity": "HP:6000499", + "Anti-FH antibody positivity": "HP:6000499", + "Extremities cold to touch": "HP:6000500", + "Peripheral vasoconstriction": "HP:6000500", + "Ruffled acrosome": "HP:6000501", + "Elevated circulating calprotectin concentration": "HP:6000502", + "4-5 toe cutaneous syndactyly": "HP:6000503", + "Poly-hill sign": "HP:6000504", + "3-5 finger cutaneous syndactyly": "HP:6000505", + "Soft tissue syndactyly of fingers 3-5,": "HP:6000505", + "Webbed 3th, 4th, and 5th finger": "HP:6000505", + "Webbed third, fourth, and fifth finger": "HP:6000505", + "Radioulnar subluxation": "HP:6000506", + "Non-pitting edema": "HP:6000507", + "Anti-human ferritin peptide antibody positivity": "HP:6000508", + "Elevated CSF L-2-hydroxyglutaric acid concentration": "HP:6000509", + "Elevated erythrocyte inosine triphosphate concentration": "HP:6000510", + "Reduced erythrocyte inosine triphosphatase activity": "HP:6000511", + "Reduced circulating alpha-1,3-fucosyltransferase activity": "HP:6000512", + "Diminished neutrophil myeloperoxidase activity": "HP:6000513", + "Reduced erythrocyte uroporphyrinogen III cosynthase activity": "HP:6000514", + "Elevated 18-hydroxycorticosterone to aldosterone ratio": "HP:6000515", + "Elevated circulating 21-deoxycortisol concentration": "HP:6000516", + "Elevated monolysocardiolipin/cardiolipin ratio": "HP:6000517", + "Low maternal vitamin B12 concentration": "HP:6000518", + "Elevated circulating inhibin A concentration": "HP:6000519", + "Increased circulating inhibin B concentration": "HP:6000520", + "Inhibin B high in blood": "HP:6000520", + "Elevated circulating lipoprotein(a) concentration": "HP:6000521", + "Reduced circulating lipoprotein(a) concentration": "HP:6000522", + "Increased urinary bile acid level": "HP:6000523", + "Abnormal urinary bile acid level": "HP:6000524", + "Reduced erythrocyte glutathione reductase activity": "HP:6000525", + "Failure to elevate lactate upon ischemic exercise test": "HP:6000526", + "Elevated circulating cholestanol concentration": "HP:6000527", + "Livestock exposure": "HP:6000528", + "Synchronous skin lesions": "HP:6000529", + "Serpentine skin location": "HP:6000530", + "Abnormal urinary organic compound level": "HP:6000531", + "Elevated urinary histamine level": "HP:6000532", + "Elevated urinary N-methylhistamine level": "HP:6000533", + "Elevated urinary ureidopropionic acid level": "HP:6000534", + "Ureidopropionic acid high in urine": "HP:6000534", + "Elevated urinary porphyrin level": "HP:6000535", + "Elevated urinary coproporphyrin level": "HP:6000536", + "Ecrrine sweat gland predominance": "HP:6000537", + "Poorly demarcated skin lesion": "HP:6000538", + "History of recent cat bite": "HP:6000539", + "History of recent cat scratch": "HP:6000539", + "History of recent stay in area with inadequate sewage sanitation": "HP:6000540", + "Positive cutaneous herpes simplex virus nucleic acid test": "HP:6000541", + "Positive CSF mycobacterium tuberculosis nucleic acid test": "HP:6000542", + "Positive mycobacterium CSF culture": "HP:6000543", + "Positive mycobacterium CSF microscopy": "HP:6000544", + "Positive treponema pallidum PCR test in the blood circulation": "HP:6000545", + "Positive human Immunodeficiency virus nucleic acid test in the blood circulation": "HP:6000546", + "Positive CSF enterovirus nucleic acid test": "HP:6000547", + "Positive CSF Borrelia burgdorferi nucleic acid test": "HP:6000548", + "Positive CSF arbovirus nucleic acid test": "HP:6000549", + "Positive Bartonella henselae nucleic acid test in the blood circulation": "HP:6000550", + "Positive Dengue virus PCR test in the blood circulation": "HP:6000551", + "Positive CSF JC-virus nucleic acid test": "HP:6000552", + "Bloodstream Malaria parasite": "HP:6000553", + "Positive bloodstream plasmodium falciparum nucleic acid pathogen test": "HP:6000554", + "Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity": "HP:6000555", + "Reduced circulating dopamine beta-hydroxylase activity": "HP:6000556", + "Reduced erythrocyte bisphosphoglycerate mutase activity": "HP:6000557", + "Reduced erythrocyte adenylate kinase activity": "HP:6000558", + "Reduced erythrocyte hexokinase activity": "HP:6000559", + "Decreased circulating carboxypeptidase N activity": "HP:6000560", + "Elevated red cell pyruvate kinase activity": "HP:6000561", + "Reduced circulating adenosine deaminase-2 activity": "HP:6000562", + "Reduced circulating ADA2 activity": "HP:6000562", + "Reduced sepiapterin reductase activity in cultured fibroblasts": "HP:6000563", + "Elevated circulating vasoactive intestinal peptide concentration": "HP:6000564", + "Elevated circulating cholesterol sulfate concentration": "HP:6000565", + "Elevated circulating lipoprotein X concentration": "HP:6000566", + "Elevated circulating oxalate concentration": "HP:6000567", + "Elevated blood ethylene glycol concentration": "HP:6000568", + "Midline notching of lower lip": "HP:6000569", + "Reduced tissue thymidine phosphorylase activity": "HP:6000570", + "Reduced leukocyte thymidine phosphorylase activity": "HP:6000570", + "Reduced tissue tripeptidyl peptidase 1 activity": "HP:6000571", + "Reduced leukocyte tripeptidyl peptidase 1 activity": "HP:6000571", + "Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts": "HP:6000571", + "Reduced tissue arginine:glycine amidinotransferase activity": "HP:6000572", + "Reduced tissue aspartylglucosaminidase activity": "HP:6000573", + "Reduced tissue carnitine-acylcarnitine translocase activity": "HP:6000574", + "Reduced circulating 6-pyruvoyltetrahydropterin synthase activity": "HP:6000575", + "Reduced tissue mannosyl-oligosaccharide glucosidase activity": "HP:6000576", + "Reduced tissue 3-methylglutaconyl-CoA hydratase activity": "HP:6000577", + "Reduced tissue gamma-glutamyltransferase activity": "HP:6000578", + "Reduced tissue gamma-glutamyl transpeptidase activity": "HP:6000578", + "Positive oropharangeal infectious agent test": "HP:6000579", + "Positive oropharynx poliovirus nucleic acid test": "HP:6000580", + "Positive synonvial fluid infectious agent test": "HP:6000581", + "Positive synonvial fluid culture": "HP:6000582", + "Positive synovial fluid gram stain": "HP:6000583", + "Anti Parvovirus antibody positivity": "HP:6000584", + "Brain parenchymal tuberculoma": "HP:6000585", + "Muscle arteriovenous malformation": "HP:6000586", + "Arteriovenous malformation in muscle": "HP:6000586", + "Muscle AVM": "HP:6000586", + "Bone arteriovenous malformation": "HP:6000587", + "Bone vascular malformation": "HP:6000587", + "Periosteal elevation": "HP:6000588", + "Esophageal dilation": "HP:6000589", + "Spinal lipoma": "HP:6000590", + "Loose body in joint": "HP:6000591", + "Paraspinal arteriovenous malformation": "HP:6000592", + "Supernumerary tarsal bone": "HP:6000593", + "Accessory tarsal bone": "HP:6000593", + "Maxillary cyst": "HP:6000594", + "Mandibular cyst": "HP:6000595", + "Sixth cranial nerve hypoplasia": "HP:6000596", + "Third cranial nerve hypoplasia": "HP:6000597", + "Elevated urinary succinylacetone level": "HP:6000598", + "Elevated urinary 2-oxoisocaproic level": "HP:6000599", + "Elevated urinary 2-oxovaleric acid level": "HP:6000600", + "Elevated urinary alpha-ketovalerate level": "HP:6000600", + "Elevated urinary 2-hydroxyisocaproic acid level": "HP:6000601", + "Elevated urinary isovalerylglycine level": "HP:6000602", + "Elevated urinary 2-methyl-3-hydroxybutyric acid level": "HP:6000603", + "Elevated urinary 3-hydroxypentanoic acid level": "HP:6000604", + "Elevated urinary 7-hydroxyoctanoic acid level": "HP:6000605", + "Elevated urinary D-glyceric acid level": "HP:6000606", + "Elevated urinary 3-hydroxyisobutyric acid level": "HP:6000607", + "Elevated urinary 3,4-Dihydroxybutyric acid level": "HP:6000608", + "Elevated urinary 3-hydroxyadipic acid level": "HP:6000609", + "Elevated urinary 3-hydroxyadipate level": "HP:6000609", + "Elevated erythrocyte galactose-1-phosphate concentration": "HP:6000610", + "Elevated circulating chitotriosidase activity": "HP:6000611", + "Squamosal suture synostosis": "HP:6000612", + "Enlarged fetal lungs": "HP:6000613", + "Orbital inflammation": "HP:6000614", + "Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts": "HP:6000615", + "Reduced muscle glycogen debrancher enzyme activity": "HP:6000616", + "Reduced tissue UDP-glucuronyl-transferase activity": "HP:6000617", + "Reduced liver uridine diphosphate glucuronosyltransferase activity": "HP:6000617", + "Reduced tissue uridine diphosphate glucuronosyltransferase activity": "HP:6000617", + "Temporal artery giant cells": "HP:6000618", + "Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts": "HP:6000619", + "Elevated urinary pyrroline hydroxycarboxylic acid level": "HP:6000620", + "Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level": "HP:6000620", + "Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level": "HP:6000620", + "Elevated urinary N-tau-ribosylhistidine level": "HP:6000621", + "Elevated urinary N-ribosylhistidine level": "HP:6000621", + "Elevated urinary ureidoisobutyric acid level": "HP:6000622", + "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level": "HP:6000623", + "Nipple epidermal Paget cells": "HP:6000624", + "Penile corporal blood gas ischemia": "HP:6000625", + "Recent temporal region trauma": "HP:6000626", + "Rest limb pain": "HP:6000627", + "Critical limb ischemia": "HP:6000627", + "Scalloped appearance of liver surface": "HP:6000628", + "Scalloping of surface of liver and spleen": "HP:6000628", + "Scalloping of the surface of the liver and spleen": "HP:6000628", + "Nipple thickening": "HP:6000629", + "Hypoechoic breast mass": "HP:6000630", + "Hypoechoic breast nodule": "HP:6000630", + "Unilocular ovarian cyst": "HP:6000631", + "Mesenteric torsion": "HP:6000632", + "High-pitched bowel sounds": "HP:6000633", + "Exacerbated by opiate medication": "HP:6000634", + "Breast granuloma": "HP:6000635", + "Granulomatous mastitis": "HP:6000635", + "Exposure to cosmetic fragrances": "HP:6000636", + "Sweating and flushing in the preauricular area in response to mastication": "HP:6000637", + "Frey syndrome": "HP:6000637", + "Reduced hepatic glyoxylate reductase activity": "HP:6000638", + "Reduced hepatic hydroxypyruvate reductase activity": "HP:6000638", + "PAS-positive lymphocyte vacuolization": "HP:6000639", + "Lipid-laden bone-marrow macrophages": "HP:6000640", + "Bone marrow monocytosis": "HP:6000641", + "Bone marrow monocytes increased": "HP:6000641", + "Sunflower cataract": "HP:6000642", + "Anti-lamin A antibody positivity": "HP:6000643", + "LMNA antibody positivity": "HP:6000643", + "PCNA antibody positivity": "HP:6000643", + "Prelamin A antibody positivity": "HP:6000643", + "ki-67 antibody positivity": "HP:6000643", + "Anti-lamin C antibody positivity": "HP:6000644", + "Prelamin C antibody positivity": "HP:6000644", + "Anti-vinculin antibody positivity": "HP:6000645", + "Anti-annexin A5 antibody positivity": "HP:6000646", + "Bulging fontanelle": "HP:6000647", + "Tense fontanelle": "HP:6000647", + "3-4 toe cutaneous syndactyly": "HP:6000648", + "Triangular nail": "HP:6000649", + "Triangular shaped nail": "HP:6000649", + "Distal tibiofibular synostosis": "HP:6000650", + "Distal tibial and fibular fusion": "HP:6000650", + "Abnormal metacarpal ossification": "HP:6000651", + "Abnormal maturation of long bone of hand": "HP:6000651", + "Abnormal ossification involving metacarpal bones": "HP:6000651", + "Rib spur": "HP:6000652", + "Crescent-shaped iliac bone": "HP:6000653", + "Crescent-shaped iliac wing": "HP:6000653", + "Paraglider shape iliac bone": "HP:6000653", + "Abnormal ischium ossification": "HP:6000654", + "Abnormal ossification of the ischium": "HP:6000654", + "Femoral neck fracture": "HP:6000655", + "Broken femoral neck": "HP:6000655", + "Fractured neck of femur": "HP:6000655", + "Papillary dermis eosinophilic hyaline material": "HP:6000656", + "Pancreatic intraductal papillary mucinous neoplasm": "HP:6000657", + "Medium vessel vasculitis": "HP:6000658", + "Medium-size-vessel vasculitis": "HP:6000658", + "Elevated muscle fiber laminin alpha 5 expression": "HP:6000659", + "Paravertebral mass": "HP:6000660", + "Phlebolith": "HP:6000661", + "Bladder rupture": "HP:6000662", + "Elevated myocardial iron load": "HP:6000663", + "Cardiac iron overload": "HP:6000663", + "MRI: heart iron content increased": "HP:6000663", + "Right ventricular regional wall motion abnormality": "HP:6000664", + "Right ventricular regional akinesia": "HP:6000665", + "Right ventricular regional dyskinesia": "HP:6000666", + "Right ventricular aneurysm": "HP:6000667", + "Right ventricular outpouching": "HP:6000667", + "Glomerular immune-complex deposition": "HP:6000668", + "Glomerular PLA2R immune-complex deposition": "HP:6000669", + "Elevated urinary L-glycerate level": "HP:6000670", + "Breast myxoma": "HP:6000671", + "Ovarian cystadenoma": "HP:6000672", + "Abnormal CSF N-acetylaspartic acid concentration": "HP:6000673", + "Elevated urine 2-betanone level": "HP:6000673", + "Decreased CSF N-acetylaspartic acid concentration": "HP:6000674", + "Decreased CSF N-acetylaspartate acid concentration": "HP:6000674", + "N-acetylaspartate absent in CSF": "HP:6000674", + "Elevated urinary mevalonate lactone level": "HP:6000675", + "Anti-von Willebrand factor antibody positivity": "HP:6000676", + "Elevated natural killer cell count": "HP:6000677", + "Myositis-specific autoantibody positivity": "HP:6000678", + "Abnormal serum osmolality": "HP:6000679", + "Low serum osmolality": "HP:6000680", + "High serum osmolality": "HP:6000681", + "History of compressive dressings": "HP:6000682", + "Triggered by overhead motions": "HP:6000683", + "Triggered by overhead activity": "HP:6000683", + "Radiating pain": "HP:6000684", + "Mitral opening snap": "HP:6000685", + "Mucus in stool": "HP:6000686", + "Elevated circulating CCL3 concentration": "HP:6000687", + "Elevated circulating CCL4 concentration": "HP:6000688", + "Elevated CSF 14-3-3 protein concentration": "HP:6000689", + "Elevated CSF dihydrobiopterin concentration": "HP:6000690", + "Left atrial fibrosis": "HP:6000691", + "Abnormal circulating atrial natriuretic peptide pro-hormone concentration": "HP:6000692", + "Reduced circulating NT-proANP concentration": "HP:6000693", + "Reduced long-acting natriuretic peptide concentration": "HP:6000693", + "Elevated circulating 1-pyrroline-5-carboxylic acid concentration": "HP:6000694", + "Elevated circulating delta-1-pyrroline-5-carboxylate concentration": "HP:6000694", + "Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity": "HP:6000695", + "Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration": "HP:6000696", + "Low tissue ferrochelatase activity": "HP:6000697", + "Elevated circulating heptacarboxylporphyrin concentration": "HP:6000698", + "Aggravated by menstruation": "HP:6000699", + "Reduced breast milk zinc concentration": "HP:6000700", + "Elevated urinary bile acid level": "HP:6000701", + "Elevated urinary glyoxylic acid level": "HP:6000702", + "Elevated urinary alpha-ketoacetic acid level": "HP:6000702", + "Elevated urinary glyoxylate level": "HP:6000702", + "Elevated urinary oxoacetic acid level": "HP:6000702", + "Elevated circulating 3-hydroxyanthranilic acid concentration": "HP:6000703", + "Elevated circulating CXCL9 concentration": "HP:6000704", + "Elevated circulating monokine induced by gamma-interferon concentration": "HP:6000704", + "Thickened fibular cortex": "HP:6000705", + "Broad cortex of fibula": "HP:6000705", + "Cortical thickening of the fibula": "HP:6000705", + "Thickened cortex of the fibula": "HP:6000705", + "Thickened cortices of fibula": "HP:6000705", + "New medication added in recent weeks": "HP:6000706", + "Noctural pain": "HP:6000707", + "Femoral osteosclerosis": "HP:6000708", + "Osteosclerosis of the femur": "HP:6000708", + "Absent Bell phenomenon": "HP:6000709", + "Absent palpebral-oculogyric reflex": "HP:6000709", + "Dalen Fuchs nodules": "HP:6000710", + "Triggering by ocular trauma": "HP:6000711", + "Gelatinous drop-like dystrophic cornea": "HP:6000712", + "Hepatic reticuloendothelial system cell iron deposition": "HP:6000713", + "Reduced epidermal kindlin-1 expression": "HP:6000714", + "Central giant cell lesion of the jaw": "HP:6000715", + "Terminal hepatic lobular vascular occlusion": "HP:6000716", + "Hepatic sinusoidal obstruction syndrome": "HP:6000716", + "Hepatic veno-occlusive disease": "HP:6000716", + "Axonal spheroids": "HP:6000717", + "Decreased liver bile salt export pump expression": "HP:6000718", + "Reduced tissue type II iodothyronine deiodinase activity": "HP:6000719", + "Reduced tissue fatty aldehyde dehydrogenase activity": "HP:6000720", + "Decreased circulating pancreatic isoamylase activity": "HP:6000721", + "Reduced tissue guanidinoacetate methyltransferase activity": "HP:6000722", + "Reduced erythrocyte galactokinase activity": "HP:6000723", + "Auspitz sign": "HP:6000724", + "Salty tasting skin": "HP:6000725", + "Scalp nodule": "HP:6000726", + "Scalp nodules": "HP:6000726", + "History of undercooked pork ingestion": "HP:6000727", + "History of recent rodent exposure": "HP:6000728", + "Positive CSF fungus test": "HP:6000729", + "Positive CSF human T-lymphotropic virus type I antibody positivity": "HP:6000730", + "Positive CSF HTLV-1 antibody positivity": "HP:6000730", + "Positive chlamydia trachomatis urine nucleic acid test": "HP:6000731", + "Anti-streptococcus deoxyribonuclease-B antibody positivity": "HP:6000732", + "Positive streptococcus A rapid antigen detection test": "HP:6000733", + "Positive synovial mycobacterial culture": "HP:6000734", + "Positive mycobacterial synovial nucleic acid test": "HP:6000735", + "Positive bloodstream babesia nucleic acid pathogen test": "HP:6000736", + "Positive bloodstream influenza nucleic test": "HP:6000737", + "Positive bloodstream parainfluenza virus nucleic acid test": "HP:6000738", + "Positive bloodstream adenovirus nucleic acid test": "HP:6000739", + "Anti-Francisella tularensis antibody positivity": "HP:6000740", + "Positive bloodstream MERS coronavirus nucleic acid test": "HP:6000741", + "Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test": "HP:6000742", + "Pediculosis capitis": "HP:6000743", + "Premature glabellar skin wrinkling": "HP:6000744", + "Flexural reticulate hyperpigmentation": "HP:6000745", + "Reticular pigmented anomaly of the flexures": "HP:6000745", + "Reticulate hyperpigmentation of the flexures": "HP:6000745", + "Elevated fractional excretion of urate": "HP:6000746", + "Uric acid wasting": "HP:6000746", + "Abnormal urinary creatine level": "HP:6000747", + "Decreased urinary creatine level": "HP:6000748", + "Elevated circulating type I procollagen aminoterminal propeptide concentration": "HP:6000749", + "Decreased tissue S-adenosylhomocysteine hydrolase activity": "HP:6000750", + "Decreased urinary dopamine level": "HP:6000751", + "Elevated erythrocyte AICA-ribotide concentration": "HP:6000752", + "Elevated circulating monomethyl sterol concentration": "HP:6000753", + "Elevated circulating dimethyl sterol concentration": "HP:6000754", + "Elevated circulating C-terminal fibroblast growth factor 23 concentration": "HP:6000755", + "Elevated urinary 5-hydroxyindoleacetic acid level": "HP:6000756", + "Elevated circulating thiosulfate concentration": "HP:6000757", + "Elevated circulating interleukin 1 receptor antagonist concentration": "HP:6000758", + "Positive CSF West Nile virus nucleic acid test": "HP:6000759", + "Positive CSF herpes simplex virus nucleic acid test": "HP:6000760", + "Positive CSF cryptococcal antigen test": "HP:6000761", + "Positive rubella CSF culture": "HP:6000762", + "Positive CSF treponema pallidum nucleic acid test": "HP:6000763", + "Decreased CSF tetrahydrobiopterin level": "HP:6000764", + "Decreased CSF N-acetyl-aspartyl-glutamate concentration": "HP:6000765", + "Positive CSF Tropheryma whipplei bacteria microscopy": "HP:6000766", + "CSF treponemal antibody positivity": "HP:6000767", + "Positive CSF Treponema pallidum hemoagglutination assay": "HP:6000767", + "Positive CSF Treponema pallidum particle agglutination test": "HP:6000767", + "Positive CSF fluorescent treponemal antibody absorption": "HP:6000767", + "Echophenomenon": "HP:6000768", + "Paracentral hyper-autofluorecence": "HP:6000769", + "Fixed fetal extremities": "HP:6000770", + "Abnormal peripapillary microvascular network": "HP:6000771", + "Auriculitis": "HP:6000772", + "Auricular inflammation": "HP:6000772", + "Recent history of moisture in external ear canal": "HP:6000773", + "History of recent trauma to external ear canal": "HP:6000774", + "Elevated urinary 4-tyramine level": "HP:6000775", + "Elevated circulating 3-hydroxykynurenine concentration": "HP:6000776", + "Posterior vertebral body notching": "HP:6000777", + "Cone-shaped distal tibial epiphysis": "HP:6000778", + "Osteoporotic femoral neck": "HP:6000779", + "Osteoporosis of femoral neck": "HP:6000779", + "Olanzapine exposure": "HP:6000780", + "Reduced tissue phosphomannomutase activity": "HP:6000781", + "Reduced tissue phosphomannose isomerase activity": "HP:6000782", + "Reduced tissue palmitoyl-protein thioesterase activity": "HP:6000783", + "Maternal household cat exposure": "HP:6000784", + "Protein craving": "HP:6000785", + "Absent superficial temporal artery pulse": "HP:6000786", + "Basilar artery fenestration": "HP:6000787", + "Basilar fenestration": "HP:6000787", + "Displacement of the extensor tendon in metacarpophalangeal joint": "HP:6000788", + "Heloma": "HP:6000789", + "Clavus": "HP:6000789", + "Corn": "HP:6000789", + "Focal intractable plantar hyperkeratosis": "HP:6000789", + "Exacerbated by pronation": "HP:6000790", + "Distortion of the anterior part of the interhemispheric fissure": "HP:6000791", + "Positive lacrimal tract actinomyces culture": "HP:6000792", + "Eschar": "HP:6000793", + "Black eschar": "HP:6000793", + "Black spot": "HP:6000793", + "Tache noire": "HP:6000793", + "History of wearing tightly fitted clothing": "HP:6000794", + "Anti-folate receptor antibody positivity": "HP:6000795", + "Positive bloodstream VDRL test": "HP:6000796", + "VDRL positive in blood": "HP:6000796", + "VDRL reactive in blood circulation": "HP:6000796", + "Positive bloodstream rapid plasma reagin test": "HP:6000797", + "Positive bloodstream HIV p24 antigen test": "HP:6000798", + "Positive Quantiferon tuberculosis test": "HP:6000799", + "Tzanck smear with multinucleated giant cells": "HP:6000800", + "Positive Mazzotti test": "HP:6000801", + "Positive bloodstream Tropheryma whippelii nucleic acid test": "HP:6000802", + "Elevated urinary 2,8-dihydroxyadenine level": "HP:6000803", + "Elevated urine fructose level": "HP:6000804", + "Elevated urinary uroporphyrin level": "HP:6000805", + "Elevated urinary phosphohydroxylysine level": "HP:6000806", + "Cervical C6/C7 vertebrae fusion": "HP:6000807", + "Periumbilical depression": "HP:6000808", + "Thickened tibial cortex": "HP:6000809", + "Thickened cortex of the tibia": "HP:6000809", + "Thickened femoral cortex": "HP:6000810", + "Thickened cortex of the radius": "HP:6000811", + "Thickened cortex of the ulna": "HP:6000812", + "Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio": "HP:6000813", + "Temporomandibular joint dislocation": "HP:6000814", + "Temporomandibular malocclusion": "HP:6000814", + "Amyloid goiter": "HP:6000815", + "Thyroid gland amyloidosis": "HP:6000815", + "Prominent lesser trochanter": "HP:6000816", + "Melorheostosis": "HP:6000817", + "Transverse terminal limb defect": "HP:6000818", + "Transverse terminal limb reduction": "HP:6000818", + "Elevated circulating beta-glucuronidase activity": "HP:6000819", + "Elevated osmolality gap": "HP:6000820", + "Elevated circulating bile alcohol concentration": "HP:6000821", + "Elevated CSF tetrahydrobiopterin level": "HP:6000822", + "Elevated CSF 5-hydroxyindoleacetic acid concentration": "HP:6000823", + "Cerebrospinal fluid eosinophilia": "HP:6000824", + "Eosinophilia in the CSF": "HP:6000824", + "Reduced C27 3beta-HSD activity in cultured fibroblasts": "HP:6000825", + "Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts": "HP:6000826", + "Diminished tissue fumarylacetoacetate hydrolase activity": "HP:6000827", + "Reduced tissue peptidase D activity": "HP:6000828", + "Reduced tissue prolidase activity": "HP:6000828", + "Reduced tissue glycine cleavage enzyme activity": "HP:6000829", + "Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts": "HP:6000830", + "Increased circulating dihydroxycholestanoic acid concentration": "HP:6000831", + "Reduced tissue phosphorylase kinase activity": "HP:6000832", + "Hyperkalemia while symptomatic": "HP:6000833", + "Hyperkalemia during attack": "HP:6000833", + "Elevated urinary gamma-glutamylcysteine level": "HP:6000834", + "Positive CSF mycobacterial culture": "HP:6000835", + "Positive CSF mycobacterium culture": "HP:6000835", + "Positive respiratory tract nucleic acid pathogen test": "HP:6000836", + "Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test": "HP:6000837", + "Positive fecal cryptosporidium antigen test": "HP:6000838", + "Horizontal position of testicle": "HP:6000839", + "Bell-clapper deformity": "HP:6000839", + "Localized soft-tissue swelling on extremity": "HP:6000840", + "Abnormal scleral thickness": "HP:6000841", + "Multiple eyelid beaded papules": "HP:6000842", + "Moniliform blepharosis": "HP:6000842", + "Nonexudative conjunctivitis": "HP:6000843", + "Nematode in retina": "HP:6000844", + "Vascular compression of the eighth cranial nerve": "HP:6000845", + "Neurovascular compression syndrome of the vestibulocochlear nerve": "HP:6000845", + "Vestibulocochlear nerve compression syndrome": "HP:6000845", + "Beaded bile ducts": "HP:6000846", + "Cardiac mass": "HP:6000847", + "Superior olive hypertrophy": "HP:6000848", + "Spinal extradural arachnoid cyst": "HP:6000849", + "SEDAC": "HP:6000849", + "Temporal cortex localization": "HP:6000850", + "Basilar meningeal enhancement": "HP:6000851", + "Megacolon": "HP:6000852", + "Thyroid cyst": "HP:6000853", + "Decreased circulating sulfate concentration": "HP:6000854", + "Cold intolerance": "HP:6000855", + "Cold sensitivity": "HP:6000855", + "Head and neck distribution": "HP:6000856", + "Symmetric distribution": "HP:6000857", + "Muscle extensor surface location": "HP:6000858", + "Dermal foam cells": "HP:6000859", + "Diminished tissue very long-chain acyl-CoA dehydrogenase activity": "HP:6000860", + "Diminished tissue glycogen branching enzyme activity": "HP:6000861", + "Parotid adenoma": "HP:6000862", + "Elevated serum-ascites albumin gradient (SAAG)": "HP:6000863", + "Abnormally high serum-ascites albumin gradient (SAAG)": "HP:6000863", + "Transverse smile": "HP:6000864", + "Hyperphalangy of the 4th finger": "HP:6000865", + "Hyperphalangy of fourth finger": "HP:6000865", + "Delayed distal femoral epiphyseal ossification": "HP:6000866", + "Delayed tibial epiphyseal ossification": "HP:6000867", + "Toe hyperphalangy": "HP:6000868", + "Sclerotic ilium": "HP:6000869", + "Increased bone density of the ilium": "HP:6000869", + "Sclerosis of iliac bone": "HP:6000869", + "Metaphyseal chevron deformity": "HP:6000870", + "Popcorn calcification": "HP:6000871", + "Aplasia/Hypoplasia of the calvaria": "HP:6000872", + "Bowdler spurs": "HP:6000873", + "Delayed ossification of the clavicle": "HP:6000874", + "Wide sacroiliac joint": "HP:6000875", + "Anti-Glutamate Receptor delta2 antibody positivity": "HP:6000876", + "Anti-dachshund family transcription factor 1 antibody positivity": "HP:6000877", + "Anti-neuronal nuclear antibody-type 3 positivity": "HP:6000877", + "Anti-potassium channel tetramerization domain containing 16 antibody positivity": "HP:6000878", + "Anti-KCTD16": "HP:6000878", + "Anti-regulator of G protein signaling 8 antibody positivity": "HP:6000879", + "Anti-neurochondrin antibody positivity": "HP:6000880", + "Anti-DCC netrin 1 receptor antibody positivity": "HP:6000881", + "Anti-recoverin antibody positivity": "HP:6000882", + "Anti-retinal CAR antigen antibody": "HP:6000882", + "Recent history of sedation by propofol infusion": "HP:6000883", + "Enlarged humeral head": "HP:6000884", + "Enlarged radial head": "HP:6000885", + "Enlarged distal tibial epiphysis": "HP:6000886", + "Large distal tibial epiphysis": "HP:6000886", + "Elevated blood bismuth concentration": "HP:6000887", + "Elevated urine bismuth level": "HP:6000888", + "Distal radioulnar joint dislocation": "HP:6000889", + "Proximal radioulnar joint dislocation": "HP:6000890", + "Absent toe phalanx flexion crease": "HP:6000891", + "White matter globoid cells": "HP:6000892", + "Gaucher cells": "HP:6000893", + "Breast adenoma": "HP:6000894", + "Breast apocrine adenoma": "HP:6000895", + "Apocrine adenoma of the breast": "HP:6000895", + "Fibrocystic breast lesion": "HP:6000896", + "Pancreatic VIPoma": "HP:6000897", + "Vasoactive intestinal peptide-secreting tumor of the pancreas": "HP:6000897", + "Gastric carcinoid tumor": "HP:6000898", + "Positive skin scabies test": "HP:6000899", + "Positive mumps virus PCR test in the blood circulation": "HP:6000900", + "Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay": "HP:6000901", + "Positive T-SPOT-tuberculosis test in the bloodstream": "HP:6000901", + "Positive blood Neisseria gonorrhoeae culture": "HP:6000902", + "Anti-mumps antibody positivity": "HP:6000903", + "Positive Vibrio cholerae stool culture": "HP:6000904", + "Positive Vibrio cholerae fecal culture": "HP:6000904", + "Positive cutaneous varicella zoster virus nucleic acid test": "HP:6000905", + "Positive bloodstream cryptococcus culture": "HP:6000906", + "Positive bloodstream Borrelia miyamotoi nucleic acid test": "HP:6000907", + "Positive bloodstream Coxsackievirus nucleic acid pathogen test": "HP:6000908", + "Positive stool Cryptosporidium antigen test": "HP:6000909", + "Diminished tissue alpha-L-iduronidase activity": "HP:6000910", + "Reduced tissue neuraminidase activity": "HP:6000911", + "Nummular keratitis": "HP:6000912", + "Swelling of inguinal region": "HP:6000913", + "Single lesion": "HP:6000914", + "Dysorthography": "HP:6000915", + "Echogenic fetal colon": "HP:6000916", + "Bone marrow edema": "HP:6000917", + "Transverse terminal upper limb defect": "HP:6000918", + "Transverse terminal upper limb reduction": "HP:6000918", + "Trousseau sign": "HP:6000919", + "Carpal spasm": "HP:6000919", + "Craniocervical junction constriction": "HP:6000920", + "Tight craniocervical junction": "HP:6000920", + "Tight craniovertebral junction": "HP:6000920", + "Fibular torsion": "HP:6000921", + "Fibular rotation": "HP:6000921", + "Abnormal finger phalanx ossification": "HP:6000922", + "Positive bloodstream EBV monospot test": "HP:6000923", + "Positive CSF Toxoplasma gondii antibody positivity": "HP:6000924", + "Positive tuberculin skin test": "HP:6000925", + "Positive Mantoux tuberculosis test": "HP:6000925", + "Tuberculosis skin test positive": "HP:6000925", + "Anti-Treponema pallidum antibody positivity": "HP:6000926", + "Positive Fluorescent treponemal antibody absorption test": "HP:6000926", + "Positive Treponema pallidum hemoagglutination assay": "HP:6000926", + "Treponemal antibody titer high in blood": "HP:6000926", + "Positive CSF Borrelia burgdorferi antibody positivity": "HP:6000927", + "Positive CSF JC-virus antibody positivity": "HP:6000928", + "Positive CSF JC-polyomavirus antibody positivity": "HP:6000928", + "Neutralizing anti-rabies virus antibody positivity": "HP:6000929", + "Impaired hepatobiliary scintigraphy tracer uptake": "HP:6000930", + "Calcified pulmonary nodule": "HP:6000931", + "Postprandial exacerbation": "HP:6000932", + "Koebner Phenomenon": "HP:6000933", + "Glenoid dysplasia": "HP:6000934", + "Glenohumeral dysplasia": "HP:6000934", + "Prolonged retraction of penile foreskin": "HP:6000935", + "Thickened cortex of the clavicle": "HP:6000936", + "Broad cortex of clavicle": "HP:6000936", + "Cortical thickening of the clavicle": "HP:6000936", + "Thickened cortices of clavicle": "HP:6000936", + "Thickened cortex of the mandible": "HP:6000937", + "Broad cortex of mandible": "HP:6000937", + "Cortical thickening of the mandible": "HP:6000937", + "Thickened cortices of mandible": "HP:6000937", + "Thumb hypoplasia grade 1": "HP:6000938", + "Thumb hypoplasia grade 2": "HP:6000939", + "Hypoplasia of the thumb grade 2": "HP:6000939", + "Thumb hypoplasia grade 3A": "HP:6000940", + "Hypoplasia of the thumb grade IIIA": "HP:6000940", + "Thumb hypoplasia grade 3B": "HP:6000941", + "Hypoplasia of the thumb grade IIIB": "HP:6000941", + "Thumb hypoplasia grade 4": "HP:6000942", + "Floating thumb": "HP:6000942", + "Hypoplasia of the thumb grade IV": "HP:6000942", + "Femoral osteopoikilosis": "HP:6000943", + "Femoral slcerotic foci": "HP:6000943", + "Sclerotic foci of the femur": "HP:6000943", + "Carotidynia": "HP:6000944", + "Asymmetric blood pressure between arms": "HP:6000945", + "Transverse terminal lower limb defect": "HP:6000946", + "Hemimelia of lower leg": "HP:6000947", + "Hemimelia of forearm": "HP:6000948", + "Sodium glucose transport inhibitor exposure": "HP:6000949", + "SGLT2i exposure": "HP:6000949", + "Breath-holding spell": "HP:6000950", + "Flared proximal tibial metaphysis": "HP:6000951", + "Delayed toe phalanx ossification": "HP:6000952", + "Sorbitol ingestion": "HP:6000953", + "Positive peritoneal fluid bacterial culture": "HP:6000954", + "Ocular cystine crystal deposition": "HP:6000955", + "Exuberant granulation tissue": "HP:6000956", + "Hypergranulating wound": "HP:6000956", + "Overgranulation": "HP:6000956", + "Oral mucosal papule": "HP:6000957", + "Excessive piloerection": "HP:6000958", + "Excessive cutis anserina": "HP:6000958", + "Excessive goose bumps": "HP:6000958", + "Scalp edema": "HP:6000959", + "Serpiginous burrow": "HP:6000960", + "Positive brain-tissue rabies nucleic acid test": "HP:6000961", + "Positive respiratory tract Bordetella pertussis nucleic acid test": "HP:6000962", + "Demonstration of acid-fast bacilli in wound tissue": "HP:6000963", + "Positive tissue encapsulated budding yeast test": "HP:6000964", + "Positive tissue coccidioidomycosis culture": "HP:6000965", + "Diminished tissue dihydropteridine reductase activity": "HP:6000966", + "Decreased circulating transcobalamin I concentration": "HP:6000967", + "Decreased circulating R vitamin B12 binder protein concentration": "HP:6000967", + "Decreased circulating cobalophilin concentration": "HP:6000967", + "Decreased circulating haptocorrin concentration": "HP:6000967", + "Diminished circulating cationic trypsinogen concentration": "HP:6000968", + "Diminished circulating hyaluronidase activity": "HP:6000969", + "Diminished sulfotransferase activity in cultured fibroblasts": "HP:6000970", + "Elevated tissue alpha-N-acetylglucosaminidase activity": "HP:6000971", + "Abnormal tissue alpha-N-acetylglucosaminidase activity": "HP:6000972", + "Elevated circulating trihydroxycholestanoic acid concentration": "HP:6000973", + "Elevated circulating THCA concentration": "HP:6000973", + "Elevated circulating glyoxylic acid concentration": "HP:6000974", + "Elevated CSF sepiapterin concentration": "HP:6000975", + "Intrahepatic inclusion bodies": "HP:6000976", + "Muscle vacuoles": "HP:6000977", + "Nonrimmed muscle vacuoles": "HP:6000978", + "Reduced hepatic glycogen phosphorylase activity": "HP:6000979", + "Bone marrow hemophagocytosis": "HP:6000980", + "Splenic granulomatosis": "HP:6000981", + "Immediate detumescence of penis at time of symptom onset": "HP:6000982", + "History of aortic valve replacement": "HP:6000983", + "Coved type ST segment elevation": "HP:6000984", + "Saddle-back type ST segment elevation": "HP:6000985", + "Substantially elevated circulating ethanol concentration": "HP:6000986", + "Tortuous appearance of the stomach": "HP:6000987", + "Cochlear nerve aplasia": "HP:6000988", + "Slit-like lateral ventricle": "HP:6000989", + "Fetal methamphetamine exposure": "HP:6000990", + "Antenatal methamphetamine exposure": "HP:6000990", + "Antenatal methamphetamine use": "HP:6000990", + "Fetal meth exposure": "HP:6000990", + "Methamphetamine use during pregnancy": "HP:6000990", + "Prenatal methamphetamine exposure": "HP:6000990", + "Prenatal methamphetamine use": "HP:6000990", + "Elevated circulating 4-hydroxybutyric acid concentration": "HP:6000991", + "Elevated urinary 2,4-dihydroxybutyric acid level": "HP:6000992", + "Pupillary hypersensitivity to parasympathomimetic agents": "HP:6000993", + "Lack of pupillary response to hydroxyamphetamine": "HP:6000994", + "Subcortical U fiber lesion": "HP:6000995", + "Subcortical U fiber involvement": "HP:6000995", + "Intraspinal extradural lipoma": "HP:6000996", + "Intranasal mass": "HP:6000997", + "Liver rupture": "HP:6000998", + "Elevated urinary mandelic acid": "HP:6000999", + "Elevated urine malic acid level": "HP:6001000", + "Elevated urine 3-hydroxysebacic acid level": "HP:6001001", + "Elevated urinary vanillactic acid level": "HP:6001002", + "Elevated urine 4,5-dihydroxyhexanoic acid level": "HP:6001003", + "Elevated urine hydroxyphenyllactic acid level": "HP:6001004", + "Positive gastric CMV intranuclear inclusions": "HP:6001005", + "Elevated urine dihydroxycholestanoic acid level": "HP:6001006", + "Elevated urine DHCA level": "HP:6001006", + "Elevated urinary bile alcohol level": "HP:6001007", + "Elevated urine glucose tetrasaccharide level": "HP:6001008", + "Increased urine 4-hydroxy-2-oxoglutarate level": "HP:6001009", + "Inability to protrude lips": "HP:6001010", + "Wet voice": "HP:6001011", + "Erythema marginatum": "HP:6001012", + "Mechanic's hands": "HP:6001013", + "Hiker's feet": "HP:6001014", + "Anti-HLA-DQ antibody positivity": "HP:6001015", + "Inappropriate normal or low erythropoietin": "HP:6001016", + "Rapid gastric emptying": "HP:6001017", + "Dumping syndrome": "HP:6001017", + "Mediastinal lymph node calcification": "HP:6001018", + "Calcified mediastinal lymph nodes": "HP:6001018", + "Eggshell calcification of lymph nodes": "HP:6001019", + "Peripheral calcification of lymph nodes": "HP:6001019", + "Knee joint effusion": "HP:6001020", + "Subcutaneous emphysema": "HP:6001021", + "Skin emphysema": "HP:6001021", + "Elevated bone scintigraphy uptake": "HP:6001022", + "Bone scan (scintigraphy): abnormally increased uptake": "HP:6001022", + "Increase bone scan uptake": "HP:6001022", + "Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts": "HP:6001023", + "Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts": "HP:6001024", + "Reduced 3-ketoacyl-CoA thiolase activity in cultured fibroblasts": "HP:6001024", + "Pathological inclusion body": "HP:6001025", + "Reduced epidermal collagen IV alpha 5 chain staining": "HP:6001026", + "Diminished glomerular basement membrane collagen IV alpha 3 chain staining": "HP:6001027", + "Diminished glomerular basement membrane collagen IV alpha 4 chain staining": "HP:6001028", + "Diminished glomerular basement membrane collagen IV alpha 5 chain staining": "HP:6001029", + "obsolete Peripheral nerve metachromasia": "HP:6001030", + "Cystine nephrolithiasis": "HP:6001031", + "Hepatic cystine accumulation": "HP:6001032", + "Bone marrow cystine accumulation": "HP:6001033", + "Desmoid tumor": "HP:6001034", + "Aggressive fibromatosis": "HP:6001034", + "Desmoid-type fibromatosis": "HP:6001034", + "Tubular jejunal duplication": "HP:6001035", + "Left ventricular rupture": "HP:6001036", + "Punctate pontine perivascular enhancement": "HP:6001037", + "Intestinal worm": "HP:6001038", + "Scrotal worm": "HP:6001039", + "Filaria dance sign": "HP:6001039", + "Small intestinal adenoma": "HP:6001040", + "Maternal retinal mottling": "HP:6001041", + "Twisted gallbladder pedicle": "HP:6001042", + "Conical structure at the gallbladder neck": "HP:6001042", + "Cholecyst-enteric fistula": "HP:6001043", + "Dyschronometria": "HP:6001044", + "History of recent intermittent breastfeeding": "HP:6001045", + "Breast cyst": "HP:6001046", + "Circumscribed": "HP:6001047", + "Lobulated": "HP:6001048", + "Spiculated": "HP:6001049", + "Whorled": "HP:6001050", + "Delta brush pattern on EEG": "HP:6001051", + "Tibiotalar synostosis": "HP:6001052", + "Vertebra plana": "HP:6001053", + "Pancake vertebra": "HP:6001053", + "Silver dollar vertebra": "HP:6001053", + "Intoeing": "HP:6001054", + "Pigeon-toed": "HP:6001054", + "Palpable thrill on extremity": "HP:6001055", + "Out-toeing": "HP:6001056", + "Duck feet": "HP:6001056", + "External rotated feet": "HP:6001056", + "Toeing out": "HP:6001056", + "Ankle dislocation": "HP:6001057", + "Anti-neuronal intermediate filament antibody positivity": "HP:6001058", + "Anti-DREBRIN antibody positivity": "HP:6001059", + "Anti-lipoprotein lipase autoantibody positivity": "HP:6001060", + "Anti-LPL autoantibody positivity": "HP:6001060", + "Anti-apolipoprotein CII autoantibody positivity": "HP:6001061", + "Anti-apoCII autoantibody positivity": "HP:6001061", + "Eosinophilic neuronal inclusion bodies": "HP:6001062", + "Sweaty foot-like odor": "HP:6001063", + "Anti-acetylcholine receptor antibody positivity": "HP:6001064", + "Hair shaft lesion": "HP:6001065", + "Prolonged use of tightly fitting footwear": "HP:6001066", + "Triggered by high protein intake": "HP:6001067", + "Triggered by protein-rich foods": "HP:6001067", + "Thickened tricuspid valve cusp": "HP:6001068", + "Displaced anterior fontanelle": "HP:6001069", + "Displacement of the anterior fontanelle": "HP:6001069", + "Subdural hygroma": "HP:6001070", + "Incus ankylosis": "HP:6001071", + "Excessive diet restriction": "HP:6001072", + "Left ventricular apical dyskinesis": "HP:6001073", + "Longitudinal erythronychia": "HP:6001074", + "Exacerbated by exposure to sunlight": "HP:6001075", + "Aggravated by ultraviolet radiation exposure": "HP:6001075", + "Exacerbated by heat": "HP:6001076", + "Aggravated by high temperatures": "HP:6001076", + "Exacerbated by excessive sweating": "HP:6001077", + "Malignant pleural effusion": "HP:6001078", + "Malignant cells in pleural fluid": "HP:6001078", + "Inappropriately low urine osmolality following challenge": "HP:6001079", + "Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio": "HP:6001080", + "Elevated urinary 2,4-dihydroxyglutarate level": "HP:6001081", + "Abnormal urine D-xylose test": "HP:6001082", + "Cerebral hemisphere mass lesion": "HP:6001083", + "T2-hyperintense putaminal rim": "HP:6001084", + "Posterior fossa mass lesion": "HP:6001085", + "Irregular RR interval": "HP:6001086", + "Irregular P-P interval": "HP:6001087", + "Fungal hair infection": "HP:6001088", + "Fungal infection of hair": "HP:6001088", + "Long hairstyle": "HP:6001089", + "Conjunctival subepithelial fibrosis": "HP:6001090", + "Conjunctival fornix foreshortening": "HP:6001091", + "Strong ultraviolet light exposure": "HP:6001092", + "Exposure to vaginal douching": "HP:6001093", + "Exposure to oily lotions or creams": "HP:6001094", + "Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion": "HP:6001095", + "Decreased T-cell ZAP-70 protein expression in CD4-positive T cells": "HP:6001096", + "Dorsal flexion contracture of the ankle": "HP:6001097", + "Dorsiflexion contracture of the ankle": "HP:6001097", + "Metaphyseal undermodelling": "HP:6001098", + "Metaphyseal modeling defect": "HP:6001098", + "Undermodelled metaphyses": "HP:6001098", + "Iliac vein compression": "HP:6001099", + "Positive serum amyloid P scintigraphy": "HP:6001100", + "Positive SAP scan": "HP:6001100", + "crossed brainstem sign": "HP:6001101", + "Inability to puff cheeks": "HP:6001102", + "Entoptic phenomenon": "HP:6001103", + "Entoptic phenomenona": "HP:6001103", + "Abnormal vestibulo-spinal reflex": "HP:6001104", + "Positive probe-to-bone test": "HP:6001105", + "Abnormal probe-to-bone test": "HP:6001105", + "Exposure to repetitive hand impact": "HP:6001106", + "Use of vibratory tools": "HP:6001106", + "Fractured scaphoid bone": "HP:6001107", + "Scaphoid bone fracture": "HP:6001107", + "Scaphoid fracture": "HP:6001107", + "Local anesthetic ineffectiveness": "HP:6001108", + "Palmoplantar location": "HP:6001109", + "Oral mucosa plaque": "HP:6001110", + "Positive saliva rabies nucleic acid test": "HP:6001111", + "Elevated tissue arylsulfatase A activity": "HP:6001112", + "Elevated circulating methysterol concentration": "HP:6001113", + "Elevated urinary adipic acid": "HP:6001114", + "EEG with temporal slowing": "HP:6001115", + "EEG with slow activity in temporal lobes": "HP:6001115", + "EEG with slow-wave activity involving the temporal lobes": "HP:6001115", + "History of high-pressure injection injury of the hand": "HP:6001116", + "Hypertrophic ulnar styloid process": "HP:6001117", + "Ulnar styloid large": "HP:6001117", + "History of recent peripheral venous catheter": "HP:6001118", + "Purulent drainage from skin": "HP:6001119", + "Occupational history of putting fingers in other people's mouths": "HP:6001120", + "Single-finger involvement": "HP:6001121", + "Single finger involvement": "HP:6001121", + "Multiple-finger involvement": "HP:6001122", + "Multiple finger involvement": "HP:6001122", + "Pain disproportionate to abnormality on physical exam": "HP:6001123", + "Sphenoid wing dysplasia": "HP:6001124", + "Skin laceration": "HP:6001125", + "Metacarpal fracture": "HP:6001126", + "Fractured metacarpal bone": "HP:6001126", + "Pain at the base of the thumb": "HP:6001127", + "History of recent participation in athletics": "HP:6001128", + "Remote trauma history": "HP:6001129", + "Distal radioulnar joint arthritis": "HP:6001130", + "Arthritis of the distal radioulnar joint": "HP:6001130", + "DRUJ arthritis": "HP:6001130", + "Radial head fracture": "HP:6001131", + "Elbow lateral collateral ligament tear": "HP:6001132", + "Lateral ulnar collateral ligament tear": "HP:6001132", + "Ligamentous tear on the lateral aspect of the elbow": "HP:6001132", + "Elbow medial collateral ligament tear": "HP:6001133", + "Ligamentous tear on the medial aspect of the elbow": "HP:6001133", + "Coronoid fracture": "HP:6001134", + "History of spinal cord injury": "HP:6001135", + "Femoral nerve distribution": "HP:6001136", + "Triceps tendon rupture": "HP:6001137", + "Digoxin exposure": "HP:6001138", + "Digitalis exposure": "HP:6001138", + "Lanoxin exposure": "HP:6001138", + "Upper arm pain": "HP:6001139", + "Proximal arm pain": "HP:6001139", + "Capitellum fracture": "HP:6001140", + "Capitellar fracture": "HP:6001140", + "Anterior shoulder pain": "HP:6001141", + "Pain at the anterior aspect of the elbow": "HP:6001142", + "Posterior fat pad sign of the elbow": "HP:6001143", + "Pain at the anterior aspect of the knee": "HP:6001144", + "Pain at the posterior aspect of the knee": "HP:6001145", + "Biceps tendonitis": "HP:6001146", + "Biceps tendinitis": "HP:6001146", + "Increased peripheral nerve cross sectional area": "HP:6001147", + "Peripheral nerve enlargement": "HP:6001147", + "Peripheral nerve swelling": "HP:6001147", + "Pain exacerbated by passive flexion at joint": "HP:6001148", + "Positive hook test at the elbow": "HP:6001149", + "Positive O'Driscoll hook test": "HP:6001149", + "Positive distal biceps hook test": "HP:6001149", + "Positive Speed's test": "HP:6001150", + "Triangular lunate bone": "HP:6001151", + "Piece of pie sign of lunate bone": "HP:6001151", + "Pain exacerbated by wrist deviation": "HP:6001152", + "Pain on the lateral aspect of the foot": "HP:6001153", + "Lateral foot pain": "HP:6001153", + "Pain at the medial aspect of the knee": "HP:6001154", + "Pain at the lateral aspect of the knee": "HP:6001155", + "Synovial crystals": "HP:6001156", + "Bursa aspiration: crystals present": "HP:6001156", + "Crystals in synovial fluid": "HP:6001156", + "Occupational exposure to frequent kneeling": "HP:6001157", + "History of frequent kneeling": "HP:6001157", + "Trochanteric pain": "HP:6001158", + "Lateral hip pain": "HP:6001158", + "Pain at the lateral aspect of the hip": "HP:6001158", + "Pain on the outside of the hip": "HP:6001158", + "Pulsatile mass in extremity": "HP:6001159", + "Abnormal R wave": "HP:6001160", + "Poor R-wave progression": "HP:6001161", + "Prominent V1-V2 R wave": "HP:6001162", + "High voltage R wave in V1/V2": "HP:6001162", + "Prominent R wave in lead V1": "HP:6001162", + "Finger mass": "HP:6001163", + "Bump on finger": "HP:6001163", + "Finger growth": "HP:6001163", + "Lump on finger": "HP:6001163", + "Foot mass": "HP:6001164", + "Bump on foot": "HP:6001164", + "Foot growth": "HP:6001164", + "Lump on foot": "HP:6001164", + "Abnormal retinal vein morphology": "HP:6001165", + "Spongiosis": "HP:6001166", + "Discoid adrenal gland": "HP:6001167", + "Elongated adrenal gland": "HP:6001167", + "Lying down adrenal gland": "HP:6001167", + "Lying down adrenal sign": "HP:6001167", + "Pancake adrenal gland": "HP:6001167", + "Straight adrenal gland": "HP:6001167", + "Abnormal optic disc vasculature morphology": "HP:6001168", + "Supraclavicular nerve distribution": "HP:6001169", + "Limited shoulder internal rotation": "HP:6001170", + "Shoulder internal rotation limited": "HP:6001170", + "Superior displacement of the humeral head": "HP:6001171", + "Decreased acromiohumeral distance": "HP:6001171", + "High-riding shoulder": "HP:6001171", + "Proximal subluxation of the humeral head": "HP:6001171", + "Increased compartment pressure": "HP:6001172", + "Pain at the lateral aspect of the elbow": "HP:6001173", + "Lateral elbow pain": "HP:6001173", + "Radial elbow pain": "HP:6001173", + "Pain at the posterior aspect of the elbow": "HP:6001174", + "Pain at the medial aspect of the elbow": "HP:6001175", + "Radial nerve distribution": "HP:6001176", + "Omovertebral bone": "HP:6001177", + "Os omovertebrale": "HP:6001177", + "Clavicular edema": "HP:6001178", + "Clavicular swelling": "HP:6001178", + "Edema localized around the clavicle": "HP:6001178", + "Positive CSF anti-measles antibody test": "HP:6001179", + "Elevated measles antibody titer in cerebrospinal fluid": "HP:6001179", + "Vogt striae": "HP:6001180", + "Corneal striae": "HP:6001180", + "Vertical stromal lines": "HP:6001180", + "Vogt's striae": "HP:6001180", + "Choroid thickening": "HP:6001181", + "Increased choroidal thickness": "HP:6001181", + "Pachychoroid": "HP:6001181", + "Thickened choroid": "HP:6001181", + "Corneal epithelial edema": "HP:6001182", + "Bullous keratopathy": "HP:6001182", + "Epithelial corneal swelling": "HP:6001182", + "Retinal shunt vessels": "HP:6001183", + "Retinal collateral vessels": "HP:6001183", + "Filamentary keratitis": "HP:6001184", + "Elevated circulating glucosylsphingosine concentration": "HP:6001185", + "Optic disc hemorrhage": "HP:6001186", + "Optic disc bleeding": "HP:6001186", + "Reduced circulating progranulin concentration": "HP:6001187", + "Preauricular lymphadenopathy": "HP:6001188", + "Onychoheterotopia": "HP:6001189", + "Ectopic fingernail": "HP:6001189", + "Abnormal MHC surface expression": "HP:6001190", + "Forward displacement of posterior cervical dura mater on neck flexion": "HP:6001191", + "Corneal dellen": "HP:6001192", + "Corneal stromal dellen": "HP:6001192", + "Localized corneal thinning": "HP:6001192", + "Conjunctival xerosis": "HP:6001193", + "Conjunctival dryness": "HP:6001193", + "Dry conjunctiva": "HP:6001193", + "Limited shoulder external rotation": "HP:6001194", + "Shoulder external rotation limited": "HP:6001194", + "Occupational exposure to frequent hand trauma": "HP:6001195", + "Inability to fully extend finger at metacarpophalangeal joint": "HP:6001196", + "Inability to fully extend finger at MCP joint": "HP:6001196", + "Inability to fully extend finger from base": "HP:6001196", + "Wrist arthritis": "HP:6001197", + "Scapholunate interval widening": "HP:6001198", + "Terry-Thomas sign": "HP:6001198", + "FInger pulp localization": "HP:6001199", + "Symptoms localized to pulp of the finger": "HP:6001199", + "Ulnar wrist pain": "HP:6001200", + "Lunotriquetral interval widening": "HP:6001201", + "Ulnar translocation of the carpus": "HP:6001202", + "allelic_requirement": "HP:0034334" +} \ No newline at end of file