{ "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" }