{"id":"HP:0000002","name":"Abnormality of body height"} {"id":"HP:0000003","name":"Multicystic kidney dysplasia"} {"id":"HP:0000008","name":"Abnormality of female internal genitalia"} {"id":"HP:0000009","name":"Functional abnormality of the bladder"} {"id":"HP:0000010","name":"Recurrent urinary tract infections"} {"id":"HP:0000011","name":"Neurogenic bladder"} {"id":"HP:0000012","name":"Urinary urgency"} {"id":"HP:0000013","name":"Hypoplasia of the uterus"} {"id":"HP:0000014","name":"Abnormality of the bladder"} {"id":"HP:0000015","name":"Bladder diverticulum"} {"id":"HP:0000016","name":"Urinary retention"} {"id":"HP:0000017","name":"Nocturia"} {"id":"HP:0000019","name":"Urinary hesitancy"} {"id":"HP:0000020","name":"Urinary incontinence"} {"id":"HP:0000021","name":"Megacystis"} {"id":"HP:0000022","name":"Abnormality of male internal genitalia"} {"id":"HP:0000023","name":"Inguinal hernia"} {"id":"HP:0000024","name":"Prostatitis"} {"id":"HP:0000025","name":"Functional abnormality of male internal genitalia"} {"id":"HP:0000026","name":"Male hypogonadism"} {"id":"HP:0000027","name":"Azoospermia"} {"id":"HP:0000028","name":"Cryptorchidism"} {"id":"HP:0000029","name":"Testicular atrophy"} {"id":"HP:0000030","name":"Testicular gonadoblastoma"} {"id":"HP:0000031","name":"Epididymitis"} {"id":"HP:0000032","name":"Abnormality of male external genitalia"} {"id":"HP:0000033","name":"Ambiguous genitalia, male"} {"id":"HP:0000034","name":"Hydrocele testis"} {"id":"HP:0000035","name":"Abnormality of the testis"} {"id":"HP:0000036","name":"Abnormality of the penis"} {"id":"HP:0000037","name":"Male pseudohermaphroditism"} {"id":"HP:0000039","name":"Epispadias"} {"id":"HP:0000040","name":"Long penis"} {"id":"HP:0000041","name":"Chordee"} {"id":"HP:0000042","name":"Absent external genitalia"} {"id":"HP:0000044","name":"Hypogonadotrophic hypogonadism"} {"id":"HP:0000045","name":"Abnormality of the scrotum"} {"id":"HP:0000046","name":"Scrotal hypoplasia"} {"id":"HP:0000047","name":"Hypospadias"} {"id":"HP:0000048","name":"Bifid scrotum"} {"id":"HP:0000049","name":"Shawl scrotum"} {"id":"HP:0000050","name":"Hypoplastic male external genitalia"} {"id":"HP:0000051","name":"Perineal hypospadias"} {"id":"HP:0000052","name":"Urethral atresia, male"} {"id":"HP:0000053","name":"Macroorchidism"} {"id":"HP:0000054","name":"Micropenis"} {"id":"HP:0000055","name":"Abnormality of female external genitalia"} {"id":"HP:0000056","name":"Abnormality of the clitoris"} {"id":"HP:0000057","name":"Clitoromegaly"} {"id":"HP:0000058","name":"Abnormality of the labia"} {"id":"HP:0000059","name":"Hypoplastic labia majora"} {"id":"HP:0000060","name":"Clitoral hypoplasia"} {"id":"HP:0000061","name":"Ambiguous genitalia, female"} {"id":"HP:0000062","name":"Ambiguous genitalia"} {"id":"HP:0000063","name":"Fused labia minora"} {"id":"HP:0000064","name":"Hypoplastic labia minora"} {"id":"HP:0000065","name":"Labial hypertrophy"} {"id":"HP:0000066","name":"Labial hypoplasia"} {"id":"HP:0000067","name":"Urethral atresia, female"} {"id":"HP:0000068","name":"Urethral atresia"} {"id":"HP:0000069","name":"Abnormality of the ureter"} {"id":"HP:0000070","name":"Ureterocele"} {"id":"HP:0000071","name":"Ureteral stenosis"} {"id":"HP:0000072","name":"Hydroureter"} {"id":"HP:0000073","name":"Ureteral duplication"} {"id":"HP:0000074","name":"Ureteropelvic junction obstruction"} {"id":"HP:0000075","name":"Renal duplication"} {"id":"HP:0000076","name":"Vesicoureteral reflux"} {"id":"HP:0000077","name":"Abnormality of the kidney"} {"id":"HP:0000078","name":"Abnormality of the genital system"} {"id":"HP:0000079","name":"Abnormality of the urinary system"} {"id":"HP:0000080","name":"Abnormality of reproductive system physiology"} {"id":"HP:0000081","name":"Duplicated collecting system"} {"id":"HP:0000083","name":"Renal insufficiency"} {"id":"HP:0000085","name":"Horseshoe kidney"} {"id":"HP:0000086","name":"Ectopic kidney"} {"id":"HP:0000089","name":"Renal hypoplasia"} {"id":"HP:0000090","name":"Nephronophthisis"} {"id":"HP:0000091","name":"Abnormality of the renal tubule"} {"id":"HP:0000092","name":"Tubular atrophy"} {"id":"HP:0000093","name":"Proteinuria"} {"id":"HP:0000095","name":"Abnormality of the glomerulus"} {"id":"HP:0000096","name":"Glomerulosclerosis"} {"id":"HP:0000097","name":"Focal segmental glomerulosclerosis"} {"id":"HP:0000098","name":"Tall stature"} {"id":"HP:0000099","name":"Glomerulonephritis"} {"id":"HP:0000100","name":"Nephrotic syndrome"} {"id":"HP:0000103","name":"Polyuria"} {"id":"HP:0000104","name":"Renal agenesis"} {"id":"HP:0000105","name":"Enlarged kidneys"} {"id":"HP:0000107","name":"Renal cyst"} {"id":"HP:0000108","name":"Renal corticomedullary cysts"} {"id":"HP:0000110","name":"Renal dysplasia"} {"id":"HP:0000111","name":"Renal juxtaglomerular cell hypertrophy/hyperplasia"} {"id":"HP:0000112","name":"Nephropathy"} {"id":"HP:0000113","name":"Polycystic kidney dysplasia"} {"id":"HP:0000114","name":"Proximal tubulopathy"} {"id":"HP:0000117","name":"Renal phosphate wasting"} {"id":"HP:0000118","name":"Phenotypic abnormality"} {"id":"HP:0000119","name":"Abnormality of the genitourinary system"} {"id":"HP:0000121","name":"Nephrocalcinosis"} {"id":"HP:0000122","name":"Unilateral renal agenesis"} {"id":"HP:0000123","name":"Nephritis"} {"id":"HP:0000124","name":"Renal tubular dysfunction"} {"id":"HP:0000125","name":"Pelvic kidney"} {"id":"HP:0000126","name":"Hydronephrosis"} {"id":"HP:0000127","name":"Renal salt wasting"} {"id":"HP:0000128","name":"Renal potassium wasting"} {"id":"HP:0000130","name":"Abnormality of the uterus"} {"id":"HP:0000131","name":"Uterine leiomyoma"} {"id":"HP:0000132","name":"Menorrhagia"} {"id":"HP:0000133","name":"Gonadal dysgenesis"} {"id":"HP:0000134","name":"Female hypogonadism"} {"id":"HP:0000135","name":"Hypogonadism"} {"id":"HP:0000136","name":"Bifid uterus"} {"id":"HP:0000137","name":"Abnormality of the ovary"} {"id":"HP:0000138","name":"Ovarian cyst"} {"id":"HP:0000139","name":"Uterine prolapse"} {"id":"HP:0000140","name":"Abnormality of the menstrual cycle"} {"id":"HP:0000141","name":"Amenorrhea"} {"id":"HP:0000142","name":"Abnormality of the vagina"} {"id":"HP:0000143","name":"Rectovaginal fistula"} {"id":"HP:0000144","name":"Decreased fertility"} {"id":"HP:0000145","name":"Transverse vaginal septum"} {"id":"HP:0000147","name":"Polycystic ovaries"} {"id":"HP:0000148","name":"Vaginal atresia"} {"id":"HP:0000149","name":"Ovarian gonadoblastoma"} {"id":"HP:0000150","name":"Gonadoblastoma"} {"id":"HP:0000151","name":"Aplasia of the uterus"} {"id":"HP:0000152","name":"Abnormality of head or neck"} {"id":"HP:0000153","name":"Abnormality of the mouth"} {"id":"HP:0000154","name":"Wide mouth"} {"id":"HP:0000155","name":"Oral ulcer"} {"id":"HP:0000157","name":"Abnormality of the tongue"} {"id":"HP:0000158","name":"Macroglossia"} {"id":"HP:0000159","name":"Abnormality of the lip"} {"id":"HP:0000160","name":"Narrow mouth"} {"id":"HP:0000161","name":"Median cleft lip"} {"id":"HP:0000162","name":"Glossoptosis"} {"id":"HP:0000163","name":"Abnormality of the oral cavity"} {"id":"HP:0000164","name":"Abnormality of the teeth"} {"id":"HP:0000166","name":"Severe periodontitis"} {"id":"HP:0000168","name":"Abnormality of the gingiva"} {"id":"HP:0000169","name":"Gingival fibromatosis"} {"id":"HP:0000171","name":"Microglossia"} {"id":"HP:0000172","name":"Abnormality of the uvula"} {"id":"HP:0000174","name":"Abnormality of the palate"} {"id":"HP:0000175","name":"Cleft palate"} {"id":"HP:0000176","name":"Submucous cleft hard palate"} {"id":"HP:0000177","name":"Abnormality of upper lip"} {"id":"HP:0000178","name":"Abnormality of lower lip"} {"id":"HP:0000179","name":"Thick lower lip vermilion"} {"id":"HP:0000180","name":"Lobulated tongue"} {"id":"HP:0000182","name":"Movement abnormality of the tongue"} {"id":"HP:0000183","name":"Difficulty in tongue movements"} {"id":"HP:0000185","name":"Cleft soft palate"} {"id":"HP:0000187","name":"Broad alveolar ridges"} {"id":"HP:0000188","name":"Short upper lip"} {"id":"HP:0000189","name":"Narrow palate"} {"id":"HP:0000190","name":"Abnormality of oral frenula"} {"id":"HP:0000191","name":"Accessory oral frenulum"} {"id":"HP:0000193","name":"Bifid uvula"} {"id":"HP:0000194","name":"Open mouth"} {"id":"HP:0000196","name":"Lower lip pit"} {"id":"HP:0000197","name":"Abnormality of parotid gland"} {"id":"HP:0000198","name":"Absence of Stensen duct"} {"id":"HP:0000199","name":"Tongue nodules"} {"id":"HP:0000200","name":"Short lingual frenulum"} {"id":"HP:0000201","name":"Pierre-Robin sequence"} {"id":"HP:0000202","name":"Oral cleft"} {"id":"HP:0000204","name":"Cleft upper lip"} {"id":"HP:0000205","name":"Pursed lips"} {"id":"HP:0000206","name":"Glossitis"} {"id":"HP:0000207","name":"Triangular mouth"} {"id":"HP:0000211","name":"Trismus"} {"id":"HP:0000212","name":"Gingival overgrowth"} {"id":"HP:0000214","name":"Lip telangiectasia"} {"id":"HP:0000215","name":"Thick upper lip vermilion"} {"id":"HP:0000216","name":"Broad secondary alveolar ridge"} {"id":"HP:0000217","name":"Xerostomia"} {"id":"HP:0000218","name":"High palate"} {"id":"HP:0000219","name":"Thin upper lip vermilion"} {"id":"HP:0000220","name":"Velopharyngeal insufficiency"} {"id":"HP:0000221","name":"Furrowed tongue"} {"id":"HP:0000222","name":"Gingival hyperkeratosis"} {"id":"HP:0000223","name":"Abnormality of taste sensation"} {"id":"HP:0000224","name":"Decreased taste sensation"} {"id":"HP:0000225","name":"Gingival bleeding"} {"id":"HP:0000227","name":"Tongue telangiectasia"} {"id":"HP:0000228","name":"Oral cavity teleangiectasia"} {"id":"HP:0000230","name":"Gingivitis"} {"id":"HP:0000232","name":"Everted lower lip vermilion"} {"id":"HP:0000233","name":"Thin vermilion border"} {"id":"HP:0000234","name":"Abnormality of the head"} {"id":"HP:0000235","name":"Abnormality of the fontanelles or cranial sutures"} {"id":"HP:0000236","name":"Abnormality of the anterior fontanelle"} {"id":"HP:0000237","name":"Small anterior fontanelle"} {"id":"HP:0000238","name":"Hydrocephalus"} {"id":"HP:0000239","name":"Large fontanelles"} {"id":"HP:0000240","name":"Abnormality of skull size"} {"id":"HP:0000242","name":"Parietal bossing"} {"id":"HP:0000243","name":"Trigonocephaly"} {"id":"HP:0000244","name":"Brachyturricephaly"} {"id":"HP:0000245","name":"Abnormality of the sinuses"} {"id":"HP:0000246","name":"Sinusitis"} {"id":"HP:0000248","name":"Brachycephaly"} {"id":"HP:0000250","name":"Dense calvaria"} {"id":"HP:0000252","name":"Microcephaly"} {"id":"HP:0000253","name":"Progressive microcephaly"} {"id":"HP:0000255","name":"Acute sinusitis"} {"id":"HP:0000256","name":"Macrocephaly"} {"id":"HP:0000260","name":"Wide anterior fontanel"} {"id":"HP:0000262","name":"Turricephaly"} {"id":"HP:0000263","name":"Oxycephaly"} {"id":"HP:0000264","name":"Abnormality of the mastoid"} {"id":"HP:0000265","name":"Mastoiditis"} {"id":"HP:0000267","name":"Cranial asymmetry"} {"id":"HP:0000268","name":"Dolichocephaly"} {"id":"HP:0000269","name":"Prominent occiput"} {"id":"HP:0000270","name":"Delayed cranial suture closure"} {"id":"HP:0000271","name":"Abnormality of the face"} {"id":"HP:0000272","name":"Malar flattening"} {"id":"HP:0000273","name":"Facial grimacing"} {"id":"HP:0000274","name":"Small face"} {"id":"HP:0000275","name":"Narrow face"} {"id":"HP:0000276","name":"Long face"} {"id":"HP:0000277","name":"Abnormality of the mandible"} {"id":"HP:0000278","name":"Retrognathia"} {"id":"HP:0000280","name":"Coarse facial features"} {"id":"HP:0000282","name":"Facial edema"} {"id":"HP:0000283","name":"Broad face"} {"id":"HP:0000284","name":"Abnormality of the ocular region"} {"id":"HP:0000286","name":"Epicanthus"} {"id":"HP:0000287","name":"Increased facial adipose tissue"} {"id":"HP:0000288","name":"Abnormality of the philtrum"} {"id":"HP:0000289","name":"Broad philtrum"} {"id":"HP:0000290","name":"Abnormality of the forehead"} {"id":"HP:0000291","name":"Abnormality of facial adipose tissue"} {"id":"HP:0000292","name":"Loss of facial adipose tissue"} {"id":"HP:0000293","name":"Full cheeks"} {"id":"HP:0000294","name":"Low anterior hairline"} {"id":"HP:0000295","name":"Doll-like facies"} {"id":"HP:0000297","name":"Facial hypotonia"} {"id":"HP:0000298","name":"Mask-like facies"} {"id":"HP:0000300","name":"Oval face"} {"id":"HP:0000301","name":"Abnormality of facial musculature"} {"id":"HP:0000303","name":"Mandibular prognathia"} {"id":"HP:0000306","name":"Abnormality of the chin"} {"id":"HP:0000307","name":"Pointed chin"} {"id":"HP:0000308","name":"Microretrognathia"} {"id":"HP:0000309","name":"Abnormality of the midface"} {"id":"HP:0000311","name":"Round face"} {"id":"HP:0000315","name":"Abnormality of the orbital region"} {"id":"HP:0000316","name":"Hypertelorism"} {"id":"HP:0000317","name":"Facial myokymia"} {"id":"HP:0000319","name":"Smooth philtrum"} {"id":"HP:0000320","name":"Bird-like facies"} {"id":"HP:0000321","name":"Square face"} {"id":"HP:0000322","name":"Short philtrum"} {"id":"HP:0000324","name":"Facial asymmetry"} {"id":"HP:0000325","name":"Triangular face"} {"id":"HP:0000326","name":"Abnormality of the maxilla"} {"id":"HP:0000327","name":"Hypoplasia of the maxilla"} {"id":"HP:0000329","name":"Facial hemangioma"} {"id":"HP:0000331","name":"Short chin"} {"id":"HP:0000336","name":"Prominent supraorbital ridges"} {"id":"HP:0000337","name":"Broad forehead"} {"id":"HP:0000338","name":"Hypomimic face"} {"id":"HP:0000339","name":"Pugilistic facies"} {"id":"HP:0000340","name":"Sloping forehead"} {"id":"HP:0000341","name":"Narrow forehead"} {"id":"HP:0000343","name":"Long philtrum"} {"id":"HP:0000346","name":"Whistling appearance"} {"id":"HP:0000347","name":"Micrognathia"} {"id":"HP:0000348","name":"High forehead"} {"id":"HP:0000349","name":"Widow's peak"} {"id":"HP:0000350","name":"Small forehead"} {"id":"HP:0000356","name":"Abnormality of the outer ear"} {"id":"HP:0000357","name":"Abnormal location of ears"} {"id":"HP:0000358","name":"Posteriorly rotated ears"} {"id":"HP:0000359","name":"Abnormality of the inner ear"} {"id":"HP:0000360","name":"Tinnitus"} {"id":"HP:0000361","name":"Pulsatile tinnitus (tympanic paraganglioma)"} {"id":"HP:0000362","name":"Otosclerosis"} {"id":"HP:0000363","name":"Abnormality of earlobe"} {"id":"HP:0000364","name":"Hearing abnormality"} {"id":"HP:0000365","name":"Hearing impairment"} {"id":"HP:0000366","name":"Abnormality of the nose"} {"id":"HP:0000368","name":"Low-set, posteriorly rotated ears"} {"id":"HP:0000369","name":"Low-set ears"} {"id":"HP:0000370","name":"Abnormality of the middle ear"} {"id":"HP:0000371","name":"Acute otitis media"} {"id":"HP:0000372","name":"Abnormality of the auditory canal"} {"id":"HP:0000375","name":"Abnormality of cochlea"} {"id":"HP:0000376","name":"Incomplete partition of the cochlea type II"} {"id":"HP:0000377","name":"Abnormality of the pinna"} {"id":"HP:0000378","name":"Cupped ear"} {"id":"HP:0000381","name":"Stapes ankylosis"} {"id":"HP:0000383","name":"Abnormality of periauricular region"} {"id":"HP:0000384","name":"Preauricular skin tag"} {"id":"HP:0000385","name":"Small earlobe"} {"id":"HP:0000387","name":"Absent earlobe"} {"id":"HP:0000388","name":"Otitis media"} {"id":"HP:0000389","name":"Chronic otitis media"} {"id":"HP:0000391","name":"Thickened helices"} {"id":"HP:0000394","name":"Lop ear"} {"id":"HP:0000395","name":"Prominent antihelix"} {"id":"HP:0000396","name":"Overfolded helix"} {"id":"HP:0000399","name":"Prelingual sensorineural hearing impairment"} {"id":"HP:0000400","name":"Macrotia"} {"id":"HP:0000402","name":"Stenosis of the external auditory canal"} {"id":"HP:0000403","name":"Recurrent otitis media"} {"id":"HP:0000405","name":"Conductive hearing impairment"} {"id":"HP:0000407","name":"Sensorineural hearing impairment"} {"id":"HP:0000408","name":"Progressive sensorineural hearing impairment"} {"id":"HP:0000410","name":"Mixed hearing impairment"} {"id":"HP:0000411","name":"Protruding ear"} {"id":"HP:0000413","name":"Atresia of the external auditory canal"} {"id":"HP:0000414","name":"Bulbous nose"} {"id":"HP:0000415","name":"Abnormality of the choanae"} {"id":"HP:0000417","name":"Slender nose"} {"id":"HP:0000418","name":"Narrow nasal ridge"} {"id":"HP:0000419","name":"Abnormality of the nasal septum"} {"id":"HP:0000420","name":"Short nasal septum"} {"id":"HP:0000421","name":"Epistaxis"} {"id":"HP:0000422","name":"Abnormality of the nasal bridge"} {"id":"HP:0000426","name":"Prominent nasal bridge"} {"id":"HP:0000429","name":"Abnormality of the nasal alae"} {"id":"HP:0000430","name":"Underdeveloped nasal alae"} {"id":"HP:0000431","name":"Wide nasal bridge"} {"id":"HP:0000433","name":"Abnormality of the nasal mucosa"} {"id":"HP:0000434","name":"Nasal mucosa telangiectasia"} {"id":"HP:0000436","name":"Abnormality of the nasal tip"} {"id":"HP:0000437","name":"Depressed nasal tip"} {"id":"HP:0000444","name":"Convex nasal ridge"} {"id":"HP:0000445","name":"Wide nose"} {"id":"HP:0000446","name":"Narrow nasal bridge"} {"id":"HP:0000447","name":"Pear-shaped nose"} {"id":"HP:0000448","name":"Prominent nose"} {"id":"HP:0000451","name":"Triangular nasal tip"} {"id":"HP:0000452","name":"Choanal stenosis"} {"id":"HP:0000453","name":"Choanal atresia"} {"id":"HP:0000454","name":"Flared nostrils"} {"id":"HP:0000455","name":"Broad nasal tip"} {"id":"HP:0000456","name":"Bifid nasal tip"} {"id":"HP:0000457","name":"Depressed nasal ridge"} {"id":"HP:0000458","name":"Anosmia"} {"id":"HP:0000460","name":"Narrow nose"} {"id":"HP:0000463","name":"Anteverted nares"} {"id":"HP:0000464","name":"Abnormality of the neck"} {"id":"HP:0000465","name":"Webbed neck"} {"id":"HP:0000466","name":"Limited neck range of motion"} {"id":"HP:0000467","name":"Neck muscle weakness"} {"id":"HP:0000468","name":"Increased adipose tissue around the neck"} {"id":"HP:0000470","name":"Short neck"} {"id":"HP:0000471","name":"Gastrointestinal angiodysplasia"} {"id":"HP:0000472","name":"Long neck"} {"id":"HP:0000473","name":"Torticollis"} {"id":"HP:0000474","name":"Thickened nuchal skin fold"} {"id":"HP:0000475","name":"Broad neck"} {"id":"HP:0000476","name":"Cystic hygroma"} {"id":"HP:0000478","name":"Abnormality of the eye"} {"id":"HP:0000479","name":"Abnormality of the retina"} {"id":"HP:0000480","name":"Retinal coloboma"} {"id":"HP:0000481","name":"Abnormality of the cornea"} {"id":"HP:0000482","name":"Microcornea"} {"id":"HP:0000483","name":"Astigmatism"} {"id":"HP:0000484","name":"Hyperopic astigmatism"} {"id":"HP:0000485","name":"Megalocornea"} {"id":"HP:0000486","name":"Strabismus"} {"id":"HP:0000487","name":"Congenital strabismus"} {"id":"HP:0000488","name":"Retinopathy"} {"id":"HP:0000490","name":"Deeply set eye"} {"id":"HP:0000491","name":"Keratitis"} {"id":"HP:0000492","name":"Abnormality of the eyelid"} {"id":"HP:0000493","name":"Abnormality of the fovea"} {"id":"HP:0000494","name":"Downslanted palpebral fissures"} {"id":"HP:0000495","name":"Recurrent corneal erosions"} {"id":"HP:0000496","name":"Abnormality of eye movement"} {"id":"HP:0000497","name":"Globe retraction and deviation on abduction"} {"id":"HP:0000498","name":"Blepharitis"} {"id":"HP:0000499","name":"Abnormality of the eyelashes"} {"id":"HP:0000501","name":"Glaucoma"} {"id":"HP:0000502","name":"Abnormality of the conjunctiva"} {"id":"HP:0000503","name":"Tortuosity of conjunctival vessels"} {"id":"HP:0000504","name":"Abnormality of vision"} {"id":"HP:0000505","name":"Visual impairment"} {"id":"HP:0000506","name":"Telecanthus"} {"id":"HP:0000508","name":"Ptosis"} {"id":"HP:0000509","name":"Conjunctivitis"} {"id":"HP:0000510","name":"Retinitis pigmentosa"} {"id":"HP:0000511","name":"Vertical supranuclear gaze palsy"} {"id":"HP:0000512","name":"Abnormal electroretinogram"} {"id":"HP:0000514","name":"Slow saccadic eye movements"} {"id":"HP:0000517","name":"Abnormality of the lens"} {"id":"HP:0000518","name":"Cataract"} {"id":"HP:0000519","name":"Congenital cataract"} {"id":"HP:0000520","name":"Proptosis"} {"id":"HP:0000522","name":"Alacrima"} {"id":"HP:0000523","name":"Subcapsular cataract"} {"id":"HP:0000524","name":"Conjunctival telangiectasia"} {"id":"HP:0000525","name":"Abnormality of the iris"} {"id":"HP:0000526","name":"Aniridia"} {"id":"HP:0000527","name":"Long eyelashes"} {"id":"HP:0000528","name":"Anophthalmia"} {"id":"HP:0000529","name":"Progressive visual loss"} {"id":"HP:0000531","name":"Corneal crystals"} {"id":"HP:0000532","name":"Chorioretinal abnormality"} {"id":"HP:0000533","name":"Chorioretinal atrophy"} {"id":"HP:0000534","name":"Abnormality of the eyebrow"} {"id":"HP:0000535","name":"Sparse eyebrow"} {"id":"HP:0000537","name":"Epicanthus inversus"} {"id":"HP:0000538","name":"Pseudopapilledema"} {"id":"HP:0000539","name":"Abnormality of refraction"} {"id":"HP:0000540","name":"Hypermetropia"} {"id":"HP:0000541","name":"Retinal detachment"} {"id":"HP:0000542","name":"Impaired ocular adduction"} {"id":"HP:0000543","name":"Optic disc pallor"} {"id":"HP:0000544","name":"External ophthalmoplegia"} {"id":"HP:0000545","name":"Myopia"} {"id":"HP:0000546","name":"Retinal degeneration"} {"id":"HP:0000547","name":"Tapetoretinal degeneration"} {"id":"HP:0000548","name":"Cone-rod dystrophy"} {"id":"HP:0000549","name":"Abnormal conjugate eye movement"} {"id":"HP:0000550","name":"Abolished electroretinogram (ERG)"} {"id":"HP:0000551","name":"Abnormality of color vision"} {"id":"HP:0000552","name":"Tritanomaly"} {"id":"HP:0000553","name":"Abnormality of the uvea"} {"id":"HP:0000554","name":"Uveitis"} {"id":"HP:0000555","name":"Leukocoria"} {"id":"HP:0000556","name":"Retinal dystrophy"} {"id":"HP:0000557","name":"Buphthalmos"} {"id":"HP:0000558","name":"Rieger anomaly"} {"id":"HP:0000559","name":"Corneal scarring"} {"id":"HP:0000561","name":"Absent eyelashes"} {"id":"HP:0000563","name":"Keratoconus"} {"id":"HP:0000564","name":"Lacrimal duct atresia"} {"id":"HP:0000565","name":"Esotropia"} {"id":"HP:0000567","name":"Chorioretinal coloboma"} {"id":"HP:0000568","name":"Microphthalmos"} {"id":"HP:0000570","name":"Abnormality of saccadic eye movements"} {"id":"HP:0000571","name":"Hypometric saccades"} {"id":"HP:0000572","name":"Visual loss"} {"id":"HP:0000573","name":"Retinal hemorrhage"} {"id":"HP:0000574","name":"Thick eyebrow"} {"id":"HP:0000575","name":"Scotoma"} {"id":"HP:0000576","name":"Centrocecal scotoma"} {"id":"HP:0000577","name":"Exotropia"} {"id":"HP:0000579","name":"Nasolacrimal duct obstruction"} {"id":"HP:0000580","name":"Pigmentary retinopathy"} {"id":"HP:0000581","name":"Blepharophimosis"} {"id":"HP:0000582","name":"Upslanted palpebral fissure"} {"id":"HP:0000584","name":"Punctate corneal epithelial erosions"} {"id":"HP:0000585","name":"Band keratopathy"} {"id":"HP:0000586","name":"Shallow orbits"} {"id":"HP:0000587","name":"Abnormality of the optic nerve"} {"id":"HP:0000588","name":"Optic nerve coloboma"} {"id":"HP:0000589","name":"Coloboma"} {"id":"HP:0000590","name":"Progressive external ophthalmoplegia"} {"id":"HP:0000591","name":"Abnormality of the sclera"} {"id":"HP:0000592","name":"Blue sclerae"} {"id":"HP:0000593","name":"Abnormality of the anterior chamber"} {"id":"HP:0000594","name":"Shallow anterior chamber"} {"id":"HP:0000597","name":"Ophthalmoparesis"} {"id":"HP:0000598","name":"Abnormality of the ear"} {"id":"HP:0000599","name":"Abnormality of the frontal hairline"} {"id":"HP:0000600","name":"Abnormality of the pharynx"} {"id":"HP:0000601","name":"Hypotelorism"} {"id":"HP:0000602","name":"Ophthalmoplegia"} {"id":"HP:0000603","name":"Central scotoma"} {"id":"HP:0000605","name":"Supranuclear gaze palsy"} {"id":"HP:0000606","name":"Abnormality of the periorbital region"} {"id":"HP:0000607","name":"Periorbital wrinkles"} {"id":"HP:0000608","name":"Macular degeneration"} {"id":"HP:0000609","name":"Optic nerve hypoplasia"} {"id":"HP:0000610","name":"Abnormality of the choroid"} {"id":"HP:0000611","name":"Choroid coloboma"} {"id":"HP:0000612","name":"Iris coloboma"} {"id":"HP:0000613","name":"Photophobia"} {"id":"HP:0000614","name":"Abnormality of the nasolacrimal system"} {"id":"HP:0000615","name":"Abnormality of the pupil"} {"id":"HP:0000616","name":"Miosis"} {"id":"HP:0000617","name":"Abnormality of ocular smooth pursuit"} {"id":"HP:0000618","name":"Blindness"} {"id":"HP:0000619","name":"Impaired convergence"} {"id":"HP:0000620","name":"Dacrocystitis"} {"id":"HP:0000621","name":"Entropion"} {"id":"HP:0000622","name":"Blurred vision"} {"id":"HP:0000623","name":"Supranuclear ophthalmoplegia"} {"id":"HP:0000625","name":"Cleft eyelid"} {"id":"HP:0000627","name":"Posterior embryotoxon"} {"id":"HP:0000629","name":"Periorbital fullness"} {"id":"HP:0000630","name":"Abnormality of retinal arteries"} {"id":"HP:0000631","name":"Retinal arterial tortuosity"} {"id":"HP:0000632","name":"Lacrimation abnormality"} {"id":"HP:0000633","name":"Decreased lacrimation"} {"id":"HP:0000634","name":"Impaired ocular abduction"} {"id":"HP:0000635","name":"Blue irides"} {"id":"HP:0000636","name":"Upper eyelid coloboma"} {"id":"HP:0000637","name":"Long palpebral fissure"} {"id":"HP:0000639","name":"Nystagmus"} {"id":"HP:0000640","name":"Gaze-evoked nystagmus"} {"id":"HP:0000641","name":"Dysmetric saccades"} {"id":"HP:0000642","name":"Red-green dyschromatopsia"} {"id":"HP:0000643","name":"Blepharospasm"} {"id":"HP:0000646","name":"Amblyopia"} {"id":"HP:0000647","name":"Sclerocornea"} {"id":"HP:0000648","name":"Optic atrophy"} {"id":"HP:0000649","name":"Abnormality of vision evoked potentials"} {"id":"HP:0000650","name":"Reduced amplitude of pattern visual evoked potentials"} {"id":"HP:0000651","name":"Diplopia"} {"id":"HP:0000652","name":"Lower eyelid coloboma"} {"id":"HP:0000653","name":"Sparse eyelashes"} {"id":"HP:0000654","name":"Decreased electroretinogram (ERG) amplitude"} {"id":"HP:0000655","name":"Vitreoretinal degeneration"} {"id":"HP:0000656","name":"Ectropion"} {"id":"HP:0000657","name":"Oculomotor apraxia"} {"id":"HP:0000658","name":"Eyelid apraxia"} {"id":"HP:0000659","name":"Peters anomaly"} {"id":"HP:0000660","name":"Lipemia retinalis"} {"id":"HP:0000661","name":"Palpebral fissure narrowing on adduction"} {"id":"HP:0000662","name":"Night blindness"} {"id":"HP:0000664","name":"Synophrys"} {"id":"HP:0000666","name":"Horizontal nystagmus"} {"id":"HP:0000667","name":"Phthisis bulbi"} {"id":"HP:0000668","name":"Hypodontia"} {"id":"HP:0000670","name":"Carious teeth"} {"id":"HP:0000674","name":"Anodontia"} {"id":"HP:0000675","name":"Macrodontia of permanent maxillary central incisor"} {"id":"HP:0000676","name":"Abnormality of the incisor"} {"id":"HP:0000677","name":"Oligodontia"} {"id":"HP:0000678","name":"Dental crowding"} {"id":"HP:0000679","name":"Taurodontia"} {"id":"HP:0000680","name":"Delayed eruption of primary teeth"} {"id":"HP:0000682","name":"Abnormality of dental enamel"} {"id":"HP:0000683","name":"Grayish enamel"} {"id":"HP:0000684","name":"Delayed eruption of teeth"} {"id":"HP:0000685","name":"Hypoplasia of teeth"} {"id":"HP:0000687","name":"Widely spaced teeth"} {"id":"HP:0000689","name":"Dental malocclusion"} {"id":"HP:0000690","name":"Agenesis of maxillary lateral incisor"} {"id":"HP:0000691","name":"Microdontia"} {"id":"HP:0000692","name":"Misalignment of teeth"} {"id":"HP:0000694","name":"Shell teeth"} {"id":"HP:0000695","name":"Natal tooth"} {"id":"HP:0000696","name":"Delayed eruption of permanent teeth"} {"id":"HP:0000698","name":"Conical tooth"} {"id":"HP:0000699","name":"Diastema"} {"id":"HP:0000700","name":"Periapical radiolucency"} {"id":"HP:0000703","name":"Dentinogenesis imperfecta"} {"id":"HP:0000704","name":"Periodontitis"} {"id":"HP:0000705","name":"Amelogenesis imperfecta"} {"id":"HP:0000706","name":"Unerupted tooth"} {"id":"HP:0000707","name":"Abnormality of the nervous system"} {"id":"HP:0000708","name":"Behavioral abnormality"} {"id":"HP:0000709","name":"Psychosis"} {"id":"HP:0000710","name":"Hyperorality"} {"id":"HP:0000711","name":"Restlessness"} {"id":"HP:0000712","name":"Emotional lability"} {"id":"HP:0000713","name":"Agitation"} {"id":"HP:0000716","name":"Depression"} {"id":"HP:0000717","name":"Autism"} {"id":"HP:0000718","name":"Aggressive behavior"} {"id":"HP:0000719","name":"Inappropriate behavior"} {"id":"HP:0000720","name":"Mood swings"} {"id":"HP:0000721","name":"Lack of spontaneous play"} {"id":"HP:0000722","name":"Obsessive-compulsive behavior"} {"id":"HP:0000723","name":"Restrictive behavior"} {"id":"HP:0000725","name":"Psychotic episodes"} {"id":"HP:0000726","name":"Dementia"} {"id":"HP:0000727","name":"Frontal lobe dementia"} {"id":"HP:0000728","name":"Impaired ability to form peer relationships"} {"id":"HP:0000729","name":"Autistic behavior"} {"id":"HP:0000732","name":"Inflexible adherence to routines or rituals"} {"id":"HP:0000733","name":"Stereotypic behavior"} {"id":"HP:0000734","name":"Disinhibition"} {"id":"HP:0000735","name":"Impaired social interactions"} {"id":"HP:0000736","name":"Short attention span"} {"id":"HP:0000737","name":"Irritability"} {"id":"HP:0000738","name":"Hallucinations"} {"id":"HP:0000739","name":"Anxiety"} {"id":"HP:0000740","name":"Anxiety (with pheochromocytoma)"} {"id":"HP:0000741","name":"Apathy"} {"id":"HP:0000742","name":"Self-mutilation"} {"id":"HP:0000743","name":"Frontal release signs"} {"id":"HP:0000744","name":"Low frustration tolerance"} {"id":"HP:0000745","name":"Diminished motivation"} {"id":"HP:0000746","name":"Delusions"} {"id":"HP:0000748","name":"Inappropriate laughter"} {"id":"HP:0000749","name":"Paroxysmal bursts of laughter"} {"id":"HP:0000750","name":"Delayed speech and language development"} {"id":"HP:0000751","name":"Personality changes"} {"id":"HP:0000752","name":"Hyperactivity"} {"id":"HP:0000753","name":"Autism with high cognitive abilities"} {"id":"HP:0000756","name":"Agoraphobia"} {"id":"HP:0000757","name":"Lack of insight"} {"id":"HP:0000758","name":"Impaired use of nonverbal behaviors"} {"id":"HP:0000759","name":"Abnormal peripheral nervous system morphology"} {"id":"HP:0000762","name":"Decreased nerve conduction velocity"} {"id":"HP:0000763","name":"Sensory neuropathy"} {"id":"HP:0000764","name":"Peripheral axonal degeneration"} {"id":"HP:0000765","name":"Abnormality of the thorax"} {"id":"HP:0000766","name":"Abnormality of the sternum"} {"id":"HP:0000767","name":"Pectus excavatum"} {"id":"HP:0000768","name":"Pectus carinatum"} {"id":"HP:0000769","name":"Abnormality of the breast"} {"id":"HP:0000771","name":"Gynecomastia"} {"id":"HP:0000772","name":"Abnormality of the ribs"} {"id":"HP:0000773","name":"Short ribs"} {"id":"HP:0000774","name":"Narrow chest"} {"id":"HP:0000775","name":"Abnormality of the diaphragm"} {"id":"HP:0000776","name":"Congenital diaphragmatic hernia"} {"id":"HP:0000777","name":"Abnormality of the thymus"} {"id":"HP:0000778","name":"Hypoplasia of the thymus"} {"id":"HP:0000782","name":"Abnormality of the scapula"} {"id":"HP:0000786","name":"Primary amenorrhea"} {"id":"HP:0000787","name":"Nephrolithiasis"} {"id":"HP:0000789","name":"Infertility"} {"id":"HP:0000790","name":"Hematuria"} {"id":"HP:0000791","name":"Uric acid nephrolithiasis"} {"id":"HP:0000793","name":"Membranoproliferative glomerulonephritis"} {"id":"HP:0000794","name":"IgA deposition in the glomerulus"} {"id":"HP:0000795","name":"Abnormality of the urethra"} {"id":"HP:0000796","name":"Urethral obstruction"} {"id":"HP:0000798","name":"Oligospermia"} {"id":"HP:0000799","name":"Renal steatosis"} {"id":"HP:0000800","name":"Cystic renal dysplasia"} {"id":"HP:0000802","name":"Impotence"} {"id":"HP:0000803","name":"Renal cortical cysts"} {"id":"HP:0000804","name":"Xanthine nephrolithiasis"} {"id":"HP:0000805","name":"Enuresis"} {"id":"HP:0000807","name":"Glandular hypospadias"} {"id":"HP:0000808","name":"Penoscrotal hypospadias"} {"id":"HP:0000809","name":"Urinary tract atresia"} {"id":"HP:0000811","name":"Abnormal external genitalia"} {"id":"HP:0000812","name":"Abnormal internal genitalia"} {"id":"HP:0000813","name":"Bicornuate uterus"} {"id":"HP:0000815","name":"Hypergonadotropic hypogonadism"} {"id":"HP:0000816","name":"Abnormality of Krebs cycle metabolism"} {"id":"HP:0000817","name":"Poor eye contact"} {"id":"HP:0000818","name":"Abnormality of the endocrine system"} {"id":"HP:0000819","name":"Diabetes mellitus"} {"id":"HP:0000820","name":"Abnormality of the thyroid gland"} {"id":"HP:0000821","name":"Hypothyroidism"} {"id":"HP:0000822","name":"Hypertension"} {"id":"HP:0000823","name":"Delayed puberty"} {"id":"HP:0000824","name":"Growth hormone deficiency"} {"id":"HP:0000825","name":"Hyperinsulinemic hypoglycemia"} {"id":"HP:0000826","name":"Precocious puberty"} {"id":"HP:0000828","name":"Abnormality of the parathyroid gland"} {"id":"HP:0000829","name":"Hypoparathyroidism"} {"id":"HP:0000830","name":"Anterior hypopituitarism"} {"id":"HP:0000831","name":"Insulin-resistant diabetes mellitus"} {"id":"HP:0000832","name":"Primary hypothyroidism"} {"id":"HP:0000833","name":"Glucose intolerance"} {"id":"HP:0000834","name":"Abnormality of the adrenal glands"} {"id":"HP:0000835","name":"Adrenal hypoplasia"} {"id":"HP:0000836","name":"Hyperthyroidism"} {"id":"HP:0000837","name":"Gonadotropin excess"} {"id":"HP:0000839","name":"Pituitary dwarfism"} {"id":"HP:0000840","name":"Adrenogenital syndrome"} {"id":"HP:0000841","name":"Hyperactive renin-angiotensin system"} {"id":"HP:0000842","name":"Hyperinsulinemia"} {"id":"HP:0000843","name":"Hyperparathyroidism"} {"id":"HP:0000845","name":"Growth hormone excess"} {"id":"HP:0000846","name":"Adrenal insufficiency"} {"id":"HP:0000847","name":"Abnormality of renin-angiotensin system"} {"id":"HP:0000848","name":"Increased circulating renin level"} {"id":"HP:0000849","name":"Adrenocortical abnormality"} {"id":"HP:0000851","name":"Congenital hypothyroidism"} {"id":"HP:0000852","name":"Pseudohypoparathyroidism"} {"id":"HP:0000853","name":"Goiter"} {"id":"HP:0000854","name":"Thyroid adenoma"} {"id":"HP:0000855","name":"Insulin resistance"} {"id":"HP:0000857","name":"Neonatal insulin-dependent diabetes mellitus"} {"id":"HP:0000858","name":"Menstrual irregularities"} {"id":"HP:0000859","name":"Hyperaldosteronism"} {"id":"HP:0000860","name":"Parathyroid hypoplasia"} {"id":"HP:0000863","name":"Central diabetes insipidus"} {"id":"HP:0000864","name":"Abnormality of the hypothalamus-pituitary axis"} {"id":"HP:0000866","name":"Euthyroid multinodular goiter"} {"id":"HP:0000867","name":"Secondary hyperparathyroidism"} {"id":"HP:0000868","name":"Decreased fertility in females"} {"id":"HP:0000869","name":"Secondary amenorrhea"} {"id":"HP:0000870","name":"Prolactin excess"} {"id":"HP:0000871","name":"Panhypopituitarism"} {"id":"HP:0000872","name":"Hashimoto thyroiditis"} {"id":"HP:0000873","name":"Diabetes insipidus"} {"id":"HP:0000875","name":"Episodic hypertension"} {"id":"HP:0000876","name":"Oligomenorrhea"} {"id":"HP:0000877","name":"Insulin-resistant diabetes mellitus at puberty"} {"id":"HP:0000878","name":"11 pairs of ribs"} {"id":"HP:0000879","name":"Short sternum"} {"id":"HP:0000882","name":"Hypoplastic scapulae"} {"id":"HP:0000883","name":"Thin ribs"} {"id":"HP:0000884","name":"Prominent sternum"} {"id":"HP:0000885","name":"Broad ribs"} {"id":"HP:0000886","name":"Deformed rib cage"} {"id":"HP:0000887","name":"Cupped ribs"} {"id":"HP:0000888","name":"Horizontal ribs"} {"id":"HP:0000889","name":"Abnormality of the clavicle"} {"id":"HP:0000890","name":"Long clavicles"} {"id":"HP:0000891","name":"Cervical ribs"} {"id":"HP:0000892","name":"Bifid ribs"} {"id":"HP:0000893","name":"Bulging of the costochondral junction"} {"id":"HP:0000894","name":"Short clavicles"} {"id":"HP:0000895","name":"Lateral clavicle hook"} {"id":"HP:0000896","name":"Rib exostoses"} {"id":"HP:0000897","name":"Rachitic rosary"} {"id":"HP:0000900","name":"Thickened ribs"} {"id":"HP:0000902","name":"Rib fusion"} {"id":"HP:0000904","name":"Flaring of rib cage"} {"id":"HP:0000905","name":"Progressive clavicular acroosteolysis"} {"id":"HP:0000907","name":"Anterior rib cupping"} {"id":"HP:0000910","name":"Wide-cupped costochondral junctions"} {"id":"HP:0000911","name":"Flat glenoid fossa"} {"id":"HP:0000912","name":"Sprengel anomaly"} {"id":"HP:0000913","name":"Posterior rib fusion"} {"id":"HP:0000914","name":"Shield chest"} {"id":"HP:0000915","name":"Pectus excavatum of inferior sternum"} {"id":"HP:0000916","name":"Broad clavicles"} {"id":"HP:0000917","name":"Superior pectus carinatum"} {"id":"HP:0000918","name":"Scapular exostoses"} {"id":"HP:0000919","name":"Abnormality of the costochondral junction"} {"id":"HP:0000920","name":"Enlargement of the costochondral junction"} {"id":"HP:0000921","name":"Missing ribs"} {"id":"HP:0000922","name":"Posterior rib cupping"} {"id":"HP:0000923","name":"Beaded ribs"} {"id":"HP:0000924","name":"Abnormality of the skeletal system"} {"id":"HP:0000925","name":"Abnormality of the vertebral column"} {"id":"HP:0000926","name":"Platyspondyly"} {"id":"HP:0000927","name":"Abnormality of skeletal maturation"} {"id":"HP:0000929","name":"Abnormality of the skull"} {"id":"HP:0000930","name":"Elevated imprint of the transverse sinuses"} {"id":"HP:0000931","name":"Thinning and bulging of the posterior fossa bones"} {"id":"HP:0000932","name":"Abnormality of the posterior cranial fossa"} {"id":"HP:0000933","name":"Posterior fossa cyst at the fourth ventricle"} {"id":"HP:0000934","name":"Chondrocalcinosis"} {"id":"HP:0000935","name":"Thickened cortex of long bones"} {"id":"HP:0000938","name":"Osteopenia"} {"id":"HP:0000939","name":"Osteoporosis"} {"id":"HP:0000940","name":"Abnormal diaphysis morphology"} {"id":"HP:0000941","name":"Short diaphyses"} {"id":"HP:0000943","name":"Dysostosis multiplex"} {"id":"HP:0000944","name":"Abnormality of the metaphyses"} {"id":"HP:0000946","name":"Hypoplastic ilia"} {"id":"HP:0000947","name":"Dumbbell-shaped long bone"} {"id":"HP:0000951","name":"Abnormality of the skin"} {"id":"HP:0000952","name":"Jaundice"} {"id":"HP:0000953","name":"Hyperpigmentation of the skin"} {"id":"HP:0000954","name":"Single transverse palmar crease"} {"id":"HP:0000956","name":"Acanthosis nigricans"} {"id":"HP:0000957","name":"Cafe-au-lait spot"} {"id":"HP:0000958","name":"Dry skin"} {"id":"HP:0000960","name":"Sacral dimple"} {"id":"HP:0000961","name":"Cyanosis"} {"id":"HP:0000962","name":"Hyperkeratosis"} {"id":"HP:0000963","name":"Thin skin"} {"id":"HP:0000964","name":"Eczema"} {"id":"HP:0000965","name":"Cutis marmorata"} {"id":"HP:0000966","name":"Hypohidrosis"} {"id":"HP:0000967","name":"Petechiae"} {"id":"HP:0000968","name":"Ectodermal dysplasia"} {"id":"HP:0000969","name":"Edema"} {"id":"HP:0000970","name":"Anhidrosis"} {"id":"HP:0000971","name":"Abnormality of the sweat gland"} {"id":"HP:0000972","name":"Palmoplantar hyperkeratosis"} {"id":"HP:0000973","name":"Cutis laxa"} {"id":"HP:0000974","name":"Hyperextensible skin"} {"id":"HP:0000975","name":"Hyperhidrosis"} {"id":"HP:0000976","name":"Eczematoid dermatitis"} {"id":"HP:0000977","name":"Soft skin"} {"id":"HP:0000978","name":"Bruising susceptibility"} {"id":"HP:0000979","name":"Purpura"} {"id":"HP:0000980","name":"Pallor"} {"id":"HP:0000982","name":"Palmoplantar keratoderma"} {"id":"HP:0000987","name":"Atypical scarring of skin"} {"id":"HP:0000988","name":"Skin rash"} {"id":"HP:0000989","name":"Pruritus"} {"id":"HP:0000991","name":"Xanthomatosis"} {"id":"HP:0000992","name":"Cutaneous photosensitivity"} {"id":"HP:0000993","name":"Molluscoid pseudotumors"} {"id":"HP:0000995","name":"Melanocytic nevus"} {"id":"HP:0000996","name":"Facial capillary hemangioma"} {"id":"HP:0000997","name":"Axillary freckling"} {"id":"HP:0000998","name":"Hypertrichosis"} {"id":"HP:0000999","name":"Pyoderma"} {"id":"HP:0001000","name":"Abnormality of skin pigmentation"} {"id":"HP:0001001","name":"Abnormality of subcutaneous fat tissue"} {"id":"HP:0001002","name":"Decreased subcutaneous fat"} {"id":"HP:0001003","name":"Multiple lentigines"} {"id":"HP:0001004","name":"Lymphedema"} {"id":"HP:0001005","name":"Dermatological manifestations of systemic disorders"} {"id":"HP:0001006","name":"Hypotrichosis"} {"id":"HP:0001007","name":"Hirsutism"} {"id":"HP:0001008","name":"Accumulation of melanosomes in melanocytes"} {"id":"HP:0001009","name":"Telangiectasia"} {"id":"HP:0001010","name":"Hypopigmentation of the skin"} {"id":"HP:0001011","name":"Diaphoresis (with pheochromocytoma)"} {"id":"HP:0001012","name":"Multiple lipomas"} {"id":"HP:0001013","name":"Eruptive xanthomas"} {"id":"HP:0001014","name":"Angiokeratoma"} {"id":"HP:0001015","name":"Prominent superficial veins"} {"id":"HP:0001017","name":"Anemic pallor"} {"id":"HP:0001018","name":"Abnormal palmar dermatoglyphics"} {"id":"HP:0001019","name":"Erythroderma"} {"id":"HP:0001022","name":"Albinism"} {"id":"HP:0001024","name":"Skin dimple over apex of long bone angulation"} {"id":"HP:0001025","name":"Urticaria"} {"id":"HP:0001026","name":"Penetrating foot ulcers"} {"id":"HP:0001027","name":"Soft, doughy skin"} {"id":"HP:0001028","name":"Hemangioma"} {"id":"HP:0001029","name":"Poikiloderma"} {"id":"HP:0001030","name":"Fragile skin"} {"id":"HP:0001031","name":"Subcutaneous lipoma"} {"id":"HP:0001032","name":"Absent distal interphalangeal creases"} {"id":"HP:0001033","name":"Facial flushing after alcohol intake"} {"id":"HP:0001034","name":"Hypermelanotic macule"} {"id":"HP:0001036","name":"Parakeratosis"} {"id":"HP:0001038","name":"Warfarin-induced skin necrosis"} {"id":"HP:0001039","name":"Atheroeruptive xanthoma"} {"id":"HP:0001040","name":"Multiple pterygia"} {"id":"HP:0001041","name":"Facial erythema"} {"id":"HP:0001042","name":"High axial triradius"} {"id":"HP:0001043","name":"Prominent scalp veins"} {"id":"HP:0001045","name":"Vitiligo"} {"id":"HP:0001046","name":"Intermittent jaundice"} {"id":"HP:0001047","name":"Atopic dermatitis"} {"id":"HP:0001048","name":"Cavernous hemangioma"} {"id":"HP:0001049","name":"Absent dorsal skin creases over affected joints"} {"id":"HP:0001050","name":"Plethora"} {"id":"HP:0001051","name":"Seborrheic dermatitis"} {"id":"HP:0001052","name":"Nevus flammeus"} {"id":"HP:0001053","name":"Hypopigmented skin patches"} {"id":"HP:0001054","name":"Numerous nevi"} {"id":"HP:0001055","name":"Erysipelas"} {"id":"HP:0001056","name":"Milia"} {"id":"HP:0001057","name":"Aplasia cutis congenita"} {"id":"HP:0001058","name":"Poor wound healing"} {"id":"HP:0001059","name":"Pterygium"} {"id":"HP:0001060","name":"Axillary pterygia"} {"id":"HP:0001061","name":"Acne"} {"id":"HP:0001062","name":"Atypical nevi (>5mm with irregular edge and pigmentation)"} {"id":"HP:0001063","name":"Acrocyanosis"} {"id":"HP:0001065","name":"Striae distensae"} {"id":"HP:0001067","name":"Neurofibromas"} {"id":"HP:0001069","name":"Episodic hyperhidrosis"} {"id":"HP:0001070","name":"Mottled pigmentation"} {"id":"HP:0001071","name":"Angiokeratoma corporis diffusum"} {"id":"HP:0001072","name":"Thickened skin"} {"id":"HP:0001073","name":"Cigarette-paper scars"} {"id":"HP:0001074","name":"Atypical nevi in non-sun exposed areas"} {"id":"HP:0001075","name":"Atrophic scars"} {"id":"HP:0001076","name":"Glabellar hemangioma"} {"id":"HP:0001080","name":"Biliary tract abnormality"} {"id":"HP:0001081","name":"Cholelithiasis"} {"id":"HP:0001082","name":"Cholecystitis"} {"id":"HP:0001083","name":"Ectopia lentis"} {"id":"HP:0001084","name":"Corneal arcus"} {"id":"HP:0001085","name":"Papilledema"} {"id":"HP:0001087","name":"Congenital glaucoma"} {"id":"HP:0001088","name":"Brushfield spots"} {"id":"HP:0001089","name":"Iris atrophy"} {"id":"HP:0001090","name":"Large eyes"} {"id":"HP:0001092","name":"Absent lacrimal punctum"} {"id":"HP:0001093","name":"Optic nerve dysplasia"} {"id":"HP:0001094","name":"Iridocyclitis"} {"id":"HP:0001095","name":"Hypertensive retinopathy"} {"id":"HP:0001096","name":"Keratoconjunctivitis"} {"id":"HP:0001097","name":"Keratoconjunctivitis sicca"} {"id":"HP:0001098","name":"Abnormality of the fundus"} {"id":"HP:0001099","name":"Fundus atrophy"} {"id":"HP:0001100","name":"Heterochromia iridis"} {"id":"HP:0001101","name":"Iritis"} {"id":"HP:0001102","name":"Angioid streaks of the retina"} {"id":"HP:0001103","name":"Abnormality of the macula"} {"id":"HP:0001104","name":"Macular hypoplasia"} {"id":"HP:0001105","name":"Retinal atrophy"} {"id":"HP:0001106","name":"Periorbital hyperpigmentation"} {"id":"HP:0001107","name":"Ocular albinism"} {"id":"HP:0001112","name":"Leber optic atrophy"} {"id":"HP:0001114","name":"Xanthelasma"} {"id":"HP:0001115","name":"Posterior polar cataract"} {"id":"HP:0001116","name":"Macular coloboma"} {"id":"HP:0001117","name":"Sudden central visual loss"} {"id":"HP:0001118","name":"Juvenile cataract"} {"id":"HP:0001119","name":"Keratoglobus"} {"id":"HP:0001120","name":"Abnormality of corneal size"} {"id":"HP:0001122","name":"Aplasia/Hypoplasia of the choroid"} {"id":"HP:0001123","name":"Visual field defect"} {"id":"HP:0001125","name":"Hemianopic blurring of vision"} {"id":"HP:0001126","name":"Cryptophthalmos"} {"id":"HP:0001128","name":"Trichiasis"} {"id":"HP:0001129","name":"Large central visual field defect"} {"id":"HP:0001131","name":"Corneal dystrophy"} {"id":"HP:0001132","name":"Lens subluxation"} {"id":"HP:0001133","name":"Constricted visual fields"} {"id":"HP:0001134","name":"Anterior polar cataract"} {"id":"HP:0001135","name":"Chorioretinal dystrophy"} {"id":"HP:0001136","name":"Retinal arteriolar tortuosity"} {"id":"HP:0001137","name":"Alternating esotropia"} {"id":"HP:0001138","name":"Optic neuropathy"} {"id":"HP:0001139","name":"Choroideremia"} {"id":"HP:0001140","name":"Epibulbar dermoid"} {"id":"HP:0001141","name":"Severe visual impairment"} {"id":"HP:0001142","name":"Lenticonus"} {"id":"HP:0001144","name":"Orbital cyst"} {"id":"HP:0001145","name":"Chorioretinopathy"} {"id":"HP:0001146","name":"Pigmentary retinal degeneration"} {"id":"HP:0001147","name":"Retinal exudate"} {"id":"HP:0001149","name":"Lattice corneal dystrophy"} {"id":"HP:0001150","name":"Choroidal sclerosis"} {"id":"HP:0001151","name":"Impaired horizontal smooth pursuit"} {"id":"HP:0001152","name":"Saccadic smooth pursuit"} {"id":"HP:0001153","name":"Septate vagina"} {"id":"HP:0001155","name":"Abnormality of the hand"} {"id":"HP:0001156","name":"Brachydactyly syndrome"} {"id":"HP:0001159","name":"Syndactyly"} {"id":"HP:0001161","name":"Hand polydactyly"} {"id":"HP:0001162","name":"Postaxial hand polydactyly"} {"id":"HP:0001163","name":"Abnormality of the metacarpal bones"} {"id":"HP:0001166","name":"Arachnodactyly"} {"id":"HP:0001167","name":"Abnormality of finger"} {"id":"HP:0001169","name":"Broad palm"} {"id":"HP:0001171","name":"Split hand"} {"id":"HP:0001172","name":"Abnormality of the thumb"} {"id":"HP:0001176","name":"Large hands"} {"id":"HP:0001177","name":"Preaxial hand polydactyly"} {"id":"HP:0001178","name":"Ulnar claw"} {"id":"HP:0001180","name":"Oligodactyly (hands)"} {"id":"HP:0001181","name":"Adducted thumb"} {"id":"HP:0001182","name":"Tapered finger"} {"id":"HP:0001187","name":"Hyperextensibility of the finger joints"} {"id":"HP:0001188","name":"Hand clenching"} {"id":"HP:0001191","name":"Abnormality of the carpal bones"} {"id":"HP:0001193","name":"Ulnar deviation of the hand or of fingers of the hand"} {"id":"HP:0001194","name":"Abnormalities of placenta or umbilical cord"} {"id":"HP:0001195","name":"Single umbilical artery"} {"id":"HP:0001196","name":"Short umbilical cord"} {"id":"HP:0001197","name":"Abnormality of prenatal development or birth"} {"id":"HP:0001199","name":"Triphalangeal thumb"} {"id":"HP:0001204","name":"Distal symphalangism (hands)"} {"id":"HP:0001211","name":"Abnormality of the fingertips"} {"id":"HP:0001212","name":"Prominent fingertip pads"} {"id":"HP:0001215","name":"Camptodactyly of 2nd-5th fingers"} {"id":"HP:0001216","name":"Delayed ossification of carpal bones"} {"id":"HP:0001217","name":"Clubbing"} {"id":"HP:0001218","name":"Autoamputation"} {"id":"HP:0001220","name":"Interphalangeal joint contracture of finger"} {"id":"HP:0001222","name":"Spatulate thumbs"} {"id":"HP:0001223","name":"Pointed proximal second through fifth metacarpals"} {"id":"HP:0001225","name":"Wrist swelling"} {"id":"HP:0001226","name":"Acral ulceration and osteomyelitis leading to autoamputation of digits"} {"id":"HP:0001227","name":"Abnormality of the thenar eminence"} {"id":"HP:0001230","name":"Broad metacarpals"} {"id":"HP:0001231","name":"Abnormality of the fingernails"} {"id":"HP:0001232","name":"Nail bed telangiectasia"} {"id":"HP:0001233","name":"2-3 finger syndactyly"} {"id":"HP:0001234","name":"Hitchhiker thumb"} {"id":"HP:0001238","name":"Slender finger"} {"id":"HP:0001239","name":"Wrist flexion contracture"} {"id":"HP:0001241","name":"Capitate-hamate fusion"} {"id":"HP:0001245","name":"Small thenar eminence"} {"id":"HP:0001248","name":"Short tubular bones (hand)"} {"id":"HP:0001249","name":"Intellectual disability"} {"id":"HP:0001250","name":"Seizures"} {"id":"HP:0001251","name":"Ataxia"} {"id":"HP:0001252","name":"Muscular hypotonia"} {"id":"HP:0001254","name":"Lethargy"} {"id":"HP:0001256","name":"Intellectual disability, mild"} {"id":"HP:0001257","name":"Spasticity"} {"id":"HP:0001258","name":"Spastic paraplegia"} {"id":"HP:0001259","name":"Coma"} {"id":"HP:0001260","name":"Dysarthria"} {"id":"HP:0001262","name":"Somnolence"} {"id":"HP:0001263","name":"Global developmental delay"} {"id":"HP:0001264","name":"Spastic diplegia"} {"id":"HP:0001265","name":"Hyporeflexia"} {"id":"HP:0001266","name":"Choreoathetosis"} {"id":"HP:0001268","name":"Mental deterioration"} {"id":"HP:0001269","name":"Hemiparesis"} {"id":"HP:0001270","name":"Motor delay"} {"id":"HP:0001271","name":"Polyneuropathy"} {"id":"HP:0001272","name":"Cerebellar atrophy"} {"id":"HP:0001273","name":"Abnormality of the corpus callosum"} {"id":"HP:0001274","name":"Agenesis of corpus callosum"} {"id":"HP:0001276","name":"Hypertonia"} {"id":"HP:0001278","name":"Orthostatic hypotension"} {"id":"HP:0001279","name":"Syncope"} {"id":"HP:0001281","name":"Tetany"} {"id":"HP:0001283","name":"Bulbar palsy"} {"id":"HP:0001284","name":"Areflexia"} {"id":"HP:0001285","name":"Spastic tetraparesis"} {"id":"HP:0001287","name":"Meningitis"} {"id":"HP:0001288","name":"Gait disturbance"} {"id":"HP:0001289","name":"Confusion"} {"id":"HP:0001290","name":"Generalized hypotonia"} {"id":"HP:0001291","name":"Abnormality of the cranial nerves"} {"id":"HP:0001293","name":"Cranial nerve compression"} {"id":"HP:0001297","name":"Stroke"} {"id":"HP:0001298","name":"Encephalopathy"} {"id":"HP:0001300","name":"Parkinsonism"} {"id":"HP:0001301","name":"Chronic sensorineural polyneuropathy"} {"id":"HP:0001302","name":"Pachygyria"} {"id":"HP:0001304","name":"Torsion dystonia"} {"id":"HP:0001305","name":"Dandy-Walker malformation"} {"id":"HP:0001308","name":"Tongue fasciculations"} {"id":"HP:0001310","name":"Dysmetria"} {"id":"HP:0001311","name":"Abnormal nervous system electrophysiology"} {"id":"HP:0001312","name":"Giant somatosensory evoked potentials"} {"id":"HP:0001315","name":"Reduced tendon reflexes"} {"id":"HP:0001317","name":"Abnormality of the cerebellum"} {"id":"HP:0001319","name":"Neonatal hypotonia"} {"id":"HP:0001320","name":"Cerebellar vermis hypoplasia"} {"id":"HP:0001321","name":"Cerebellar hypoplasia"} {"id":"HP:0001322","name":"Brain very small"} {"id":"HP:0001324","name":"Muscle weakness"} {"id":"HP:0001325","name":"Hypoglycemic coma"} {"id":"HP:0001326","name":"EEG with irregular generalized spike and wave complexes"} {"id":"HP:0001327","name":"Photomyoclonic seizures"} {"id":"HP:0001328","name":"Specific learning disability"} {"id":"HP:0001331","name":"Absent septum pellucidum"} {"id":"HP:0001332","name":"Dystonia"} {"id":"HP:0001334","name":"Communicating hydrocephalus"} {"id":"HP:0001335","name":"Bimanual synkinesia"} {"id":"HP:0001336","name":"Myoclonus"} {"id":"HP:0001337","name":"Tremor"} {"id":"HP:0001338","name":"Partial agenesis of the corpus callosum"} {"id":"HP:0001339","name":"Lissencephaly"} {"id":"HP:0001340","name":"Enhancement of the C-reflex"} {"id":"HP:0001341","name":"Olfactory lobe agenesis"} {"id":"HP:0001342","name":"Cerebral hemorrhage"} {"id":"HP:0001343","name":"Kernicterus"} {"id":"HP:0001344","name":"Absent speech"} {"id":"HP:0001345","name":"Psychotic mentation"} {"id":"HP:0001347","name":"Hyperreflexia"} {"id":"HP:0001348","name":"Brisk reflexes"} {"id":"HP:0001349","name":"Facial diplegia"} {"id":"HP:0001350","name":"Slurred speech"} {"id":"HP:0001351","name":"Jerk-locked premyoclonus spikes"} {"id":"HP:0001355","name":"Megalencephaly"} {"id":"HP:0001357","name":"Plagiocephaly"} {"id":"HP:0001360","name":"Holoprosencephaly"} {"id":"HP:0001361","name":"Nystagmus-induced head nodding"} {"id":"HP:0001362","name":"Skull defect"} {"id":"HP:0001363","name":"Craniosynostosis"} {"id":"HP:0001367","name":"Abnormal joint morphology"} {"id":"HP:0001369","name":"Arthritis"} {"id":"HP:0001370","name":"Rheumatoid arthritis"} {"id":"HP:0001371","name":"Flexion contracture"} {"id":"HP:0001373","name":"Joint dislocation"} {"id":"HP:0001374","name":"Congenital hip dislocation"} {"id":"HP:0001376","name":"Limitation of joint mobility"} {"id":"HP:0001377","name":"Limited elbow extension"} {"id":"HP:0001379","name":"Degenerative joint disease"} {"id":"HP:0001380","name":"Ligamentous laxity"} {"id":"HP:0001382","name":"Joint hypermobility"} {"id":"HP:0001384","name":"Abnormality of the hip joint"} {"id":"HP:0001385","name":"Hip dysplasia"} {"id":"HP:0001386","name":"Joint swelling"} {"id":"HP:0001387","name":"Joint stiffness"} {"id":"HP:0001388","name":"Joint laxity"} {"id":"HP:0001392","name":"Abnormality of the liver"} {"id":"HP:0001394","name":"Cirrhosis"} {"id":"HP:0001395","name":"Hepatic fibrosis"} {"id":"HP:0001396","name":"Cholestasis"} {"id":"HP:0001397","name":"Hepatic steatosis"} {"id":"HP:0001399","name":"Hepatic failure"} {"id":"HP:0001400","name":"Hepatic abscesses due to immunodeficiency"} {"id":"HP:0001401","name":"Intrahepatic biliary dysgenesis"} {"id":"HP:0001402","name":"Hepatocellular carcinoma"} {"id":"HP:0001403","name":"Macrovesicular hepatic steatosis"} {"id":"HP:0001404","name":"Hepatocellular necrosis"} {"id":"HP:0001405","name":"Periportal fibrosis"} {"id":"HP:0001406","name":"Intrahepatic cholestasis"} {"id":"HP:0001407","name":"Hepatic cysts"} {"id":"HP:0001408","name":"Bile duct proliferation"} {"id":"HP:0001409","name":"Portal hypertension"} {"id":"HP:0001410","name":"Decreased liver function"} {"id":"HP:0001412","name":"Enteroviral hepatitis"} {"id":"HP:0001413","name":"Micronodular cirrhosis"} {"id":"HP:0001414","name":"Microvesicular hepatic steatosis"} {"id":"HP:0001421","name":"Abnormality of the musculature of the hand"} {"id":"HP:0001430","name":"Abnormality of the calf musculature"} {"id":"HP:0001433","name":"Hepatosplenomegaly"} {"id":"HP:0001435","name":"Abnormality of the shoulder girdle musculature"} {"id":"HP:0001436","name":"Abnormality of the foot musculature"} {"id":"HP:0001437","name":"Abnormality of the musculature of the lower limbs"} {"id":"HP:0001438","name":"Abnormality of the abdomen"} {"id":"HP:0001440","name":"Metatarsal synostosis"} {"id":"HP:0001441","name":"Abnormality of the musculature of the thigh"} {"id":"HP:0001443","name":"Abnormality of the gluteal musculature"} {"id":"HP:0001445","name":"Abnormality of the hip-girdle musculature"} {"id":"HP:0001446","name":"Abnormality of the musculature of the upper limbs"} {"id":"HP:0001449","name":"Duplication of metatarsal bones"} {"id":"HP:0001454","name":"Abnormality of the upper arm"} {"id":"HP:0001457","name":"Abnormality of the musculature of the upper arm"} {"id":"HP:0001459","name":"1-3 toe syndactyly"} {"id":"HP:0001460","name":"Aplasia/Hypoplasia involving the skeletal musculature"} {"id":"HP:0001464","name":"Aplasia/Hypoplasia involving the shoulder musculature"} {"id":"HP:0001465","name":"Amyotrophy involving the shoulder musculature"} {"id":"HP:0001467","name":"Aplasia/Hypoplasia involving the musculature of the upper limbs"} {"id":"HP:0001468","name":"Aplasia/Hypoplasia involving the musculature of the upper arm"} {"id":"HP:0001469","name":"Abnormality of the musculature of the pelvis"} {"id":"HP:0001471","name":"Aplasia/Hypoplasia of the musculature of the pelvis"} {"id":"HP:0001473","name":"Metatarsal osteolysis"} {"id":"HP:0001474","name":"Sclerotic scapulae"} {"id":"HP:0001476","name":"Delayed closure of the anterior fontanelle"} {"id":"HP:0001477","name":"Compensatory chin elevation"} {"id":"HP:0001480","name":"Freckling"} {"id":"HP:0001482","name":"Subcutaneous nodule"} {"id":"HP:0001483","name":"Eye poking"} {"id":"HP:0001487","name":"Hypopigmented fundi"} {"id":"HP:0001488","name":"Bilateral ptosis"} {"id":"HP:0001489","name":"Vitreous detachment"} {"id":"HP:0001491","name":"Congenital fibrosis of extraocular muscles"} {"id":"HP:0001492","name":"Axenfeld anomaly"} {"id":"HP:0001493","name":"Falciform retinal fold"} {"id":"HP:0001495","name":"Carpal osteolysis"} {"id":"HP:0001498","name":"Carpal bone hypoplasia"} {"id":"HP:0001500","name":"Broad finger"} {"id":"HP:0001501","name":"6 metacarpals"} {"id":"HP:0001504","name":"Metacarpal osteolysis"} {"id":"HP:0001507","name":"Growth abnormality"} {"id":"HP:0001508","name":"Failure to thrive"} {"id":"HP:0001510","name":"Growth delay"} {"id":"HP:0001511","name":"Intrauterine growth retardation"} {"id":"HP:0001513","name":"Obesity"} {"id":"HP:0001518","name":"Small for gestational age"} {"id":"HP:0001519","name":"Disproportionate tall stature"} {"id":"HP:0001520","name":"Large for gestational age"} {"id":"HP:0001525","name":"Severe failure to thrive"} {"id":"HP:0001528","name":"Hemihypertrophy"} {"id":"HP:0001530","name":"Mild postnatal growth retardation"} {"id":"HP:0001531","name":"Failure to thrive in infancy"} {"id":"HP:0001533","name":"Slender build"} {"id":"HP:0001537","name":"Umbilical hernia"} {"id":"HP:0001538","name":"Protuberant abdomen"} {"id":"HP:0001539","name":"Omphalocele"} {"id":"HP:0001540","name":"Diastasis recti"} {"id":"HP:0001541","name":"Ascites"} {"id":"HP:0001543","name":"Gastroschisis"} {"id":"HP:0001544","name":"Prominent umbilicus"} {"id":"HP:0001545","name":"Anteriorly placed anus"} {"id":"HP:0001547","name":"Abnormality of the rib cage"} {"id":"HP:0001548","name":"Overgrowth"} {"id":"HP:0001549","name":"Abnormality of the ileum"} {"id":"HP:0001551","name":"Abnormality of the umbilicus"} {"id":"HP:0001552","name":"Barrel-shaped chest"} {"id":"HP:0001555","name":"Asymmetry of the thorax"} {"id":"HP:0001557","name":"Prenatal movement abnormality"} {"id":"HP:0001558","name":"Decreased fetal movement"} {"id":"HP:0001560","name":"Abnormality of the amniotic fluid"} {"id":"HP:0001561","name":"Polyhydramnios"} {"id":"HP:0001562","name":"Oligohydramnios"} {"id":"HP:0001563","name":"Fetal polyuria"} {"id":"HP:0001566","name":"Widely-spaced maxillary central incisors"} {"id":"HP:0001571","name":"Multiple impacted teeth"} {"id":"HP:0001572","name":"Macrodontia"} {"id":"HP:0001574","name":"Abnormality of the integument"} {"id":"HP:0001575","name":"Mood changes"} {"id":"HP:0001578","name":"Hypercortisolism"} {"id":"HP:0001579","name":"Primary hypercorticolism"} {"id":"HP:0001580","name":"Pigmented micronodular adrenocortical disease"} {"id":"HP:0001581","name":"Recurrent skin infections"} {"id":"HP:0001582","name":"Redundant skin"} {"id":"HP:0001583","name":"Rotary nystagmus"} {"id":"HP:0001586","name":"Vesicovaginal fistula"} {"id":"HP:0001587","name":"Primary ovarian failure"} {"id":"HP:0001591","name":"Bell-shaped thorax"} {"id":"HP:0001592","name":"Selective tooth agenesis"} {"id":"HP:0001593","name":"Maxillary lateral incisor microdontia"} {"id":"HP:0001595","name":"Abnormality of the hair"} {"id":"HP:0001596","name":"Alopecia"} {"id":"HP:0001597","name":"Abnormality of the nail"} {"id":"HP:0001598","name":"Concave nail"} {"id":"HP:0001600","name":"Abnormality of the larynx"} {"id":"HP:0001601","name":"Laryngomalacia"} {"id":"HP:0001602","name":"Laryngeal stenosis"} {"id":"HP:0001604","name":"Vocal cord paresis"} {"id":"HP:0001605","name":"Vocal cord paralysis"} {"id":"HP:0001606","name":"Vocal cord paralysis (caused by tumor impingement)"} {"id":"HP:0001607","name":"Subglottic stenosis"} {"id":"HP:0001608","name":"Abnormality of the voice"} {"id":"HP:0001609","name":"Hoarse voice"} {"id":"HP:0001611","name":"Nasal speech"} {"id":"HP:0001612","name":"Weak cry"} {"id":"HP:0001613","name":"Hoarse voice (caused by tumor impingement)"} {"id":"HP:0001615","name":"Hoarse cry"} {"id":"HP:0001618","name":"Dysphonia"} {"id":"HP:0001620","name":"High pitched voice"} {"id":"HP:0001621","name":"Weak voice"} {"id":"HP:0001622","name":"Premature birth"} {"id":"HP:0001623","name":"Breech presentation"} {"id":"HP:0001626","name":"Abnormality of the cardiovascular system"} {"id":"HP:0001627","name":"Abnormality of cardiac morphology"} {"id":"HP:0001629","name":"Ventricular septal defect"} {"id":"HP:0001631","name":"Defect in the atrial septum"} {"id":"HP:0001633","name":"Abnormality of the mitral valve"} {"id":"HP:0001634","name":"Mitral valve prolapse"} {"id":"HP:0001635","name":"Congestive heart failure"} {"id":"HP:0001636","name":"Tetralogy of Fallot"} {"id":"HP:0001637","name":"Abnormality of the myocardium"} {"id":"HP:0001638","name":"Cardiomyopathy"} {"id":"HP:0001639","name":"Hypertrophic cardiomyopathy"} {"id":"HP:0001640","name":"Cardiomegaly"} {"id":"HP:0001641","name":"Abnormality of the pulmonary valve"} {"id":"HP:0001642","name":"Pulmonic stenosis"} {"id":"HP:0001643","name":"Patent ductus arteriosus"} {"id":"HP:0001644","name":"Dilated cardiomyopathy"} {"id":"HP:0001645","name":"Sudden cardiac death"} {"id":"HP:0001646","name":"Abnormality of the aortic valve"} {"id":"HP:0001647","name":"Bicuspid aortic valve"} {"id":"HP:0001648","name":"Cor pulmonale"} {"id":"HP:0001649","name":"Tachycardia"} {"id":"HP:0001650","name":"Aortic valve stenosis"} {"id":"HP:0001651","name":"Dextrocardia"} {"id":"HP:0001653","name":"Mitral regurgitation"} {"id":"HP:0001654","name":"Abnormality of the heart valves"} {"id":"HP:0001655","name":"Patent foramen ovale"} {"id":"HP:0001657","name":"Prolonged QT interval"} {"id":"HP:0001658","name":"Myocardial infarction"} {"id":"HP:0001659","name":"Aortic regurgitation"} {"id":"HP:0001660","name":"Truncus arteriosus"} {"id":"HP:0001662","name":"Bradycardia"} {"id":"HP:0001663","name":"Ventricular fibrillation"} {"id":"HP:0001664","name":"Torsade de pointes"} {"id":"HP:0001667","name":"Right ventricular hypertrophy"} {"id":"HP:0001669","name":"Transposition of the great arteries"} {"id":"HP:0001670","name":"Asymmetric septal hypertrophy"} {"id":"HP:0001671","name":"Abnormality of the cardiac septa"} {"id":"HP:0001673","name":"Tachycardia (with pheochromocytoma)"} {"id":"HP:0001674","name":"Complete atrioventricular canal defect"} {"id":"HP:0001675","name":"Rhythm disturbances associated with pheochromocytoma"} {"id":"HP:0001676","name":"Palpitations (with pheochromocytoma)"} {"id":"HP:0001677","name":"Coronary artery disease"} {"id":"HP:0001678","name":"Atrioventricular block"} {"id":"HP:0001679","name":"Abnormality of the aorta"} {"id":"HP:0001680","name":"Coarctation of aorta"} {"id":"HP:0001681","name":"Angina pectoris"} {"id":"HP:0001682","name":"Subaortic stenosis"} {"id":"HP:0001683","name":"Ectopia cordis"} {"id":"HP:0001684","name":"Secundum atrial septal defect"} {"id":"HP:0001685","name":"Myocardial fibrosis"} {"id":"HP:0001686","name":"Loss of voice"} {"id":"HP:0001688","name":"Sinus bradycardia"} {"id":"HP:0001691","name":"Muscular subvalvular aortic stenosis"} {"id":"HP:0001692","name":"Primary atrial arrhythmia"} {"id":"HP:0001693","name":"Cardiac shunt"} {"id":"HP:0001694","name":"Right-to-left shunt"} {"id":"HP:0001695","name":"Cardiac arrest"} {"id":"HP:0001696","name":"Situs inversus totalis"} {"id":"HP:0001697","name":"Abnormality of the pericardium"} {"id":"HP:0001698","name":"Pericardial effusion"} {"id":"HP:0001700","name":"Myocardial necrosis"} {"id":"HP:0001701","name":"Pericarditis"} {"id":"HP:0001702","name":"Abnormality of the tricuspid valve"} {"id":"HP:0001704","name":"Tricuspid valve prolapse"} {"id":"HP:0001705","name":"Right ventricular outlet obstruction"} {"id":"HP:0001706","name":"Endocardial fibroelastosis"} {"id":"HP:0001707","name":"Abnormality of the right ventricle"} {"id":"HP:0001708","name":"Right ventricular failure"} {"id":"HP:0001709","name":"Third degree atrioventricular block"} {"id":"HP:0001710","name":"Conotruncal defect"} {"id":"HP:0001711","name":"Abnormality of the left ventricle"} {"id":"HP:0001712","name":"Left ventricular hypertrophy"} {"id":"HP:0001713","name":"Abnormality of cardiac ventricle"} {"id":"HP:0001714","name":"Ventricular hypertrophy"} {"id":"HP:0001716","name":"Wolff-Parkinson-White syndrome"} {"id":"HP:0001717","name":"Coronary artery calcification"} {"id":"HP:0001718","name":"Mitral stenosis"} {"id":"HP:0001719","name":"Double outlet right ventricle"} {"id":"HP:0001722","name":"High-output congestive heart failure"} {"id":"HP:0001723","name":"Restrictive cardiomyopathy"} {"id":"HP:0001724","name":"Aortic dilatation"} {"id":"HP:0001726","name":"Increased prevalence of valvular disease"} {"id":"HP:0001727","name":"Thromboembolic stroke"} {"id":"HP:0001730","name":"Progressive hearing impairment"} {"id":"HP:0001732","name":"Abnormality of the pancreas"} {"id":"HP:0001733","name":"Pancreatitis"} {"id":"HP:0001734","name":"Annular pancreas"} {"id":"HP:0001735","name":"Acute pancreatitis"} {"id":"HP:0001737","name":"Pancreatic cysts"} {"id":"HP:0001738","name":"Exocrine pancreatic insufficiency"} {"id":"HP:0001739","name":"Abnormality of the nasopharynx"} {"id":"HP:0001741","name":"Phimosis"} {"id":"HP:0001742","name":"Nasal obstruction"} {"id":"HP:0001743","name":"Abnormality of the spleen"} {"id":"HP:0001744","name":"Splenomegaly"} {"id":"HP:0001746","name":"Asplenia"} {"id":"HP:0001747","name":"Accessory spleen"} {"id":"HP:0001748","name":"Polysplenia"} {"id":"HP:0001750","name":"Single ventricle"} {"id":"HP:0001751","name":"Vestibular dysfunction"} {"id":"HP:0001756","name":"Vestibular hypofunction"} {"id":"HP:0001757","name":"High-frequency sensorineural hearing impairment"} {"id":"HP:0001760","name":"Abnormality of the foot"} {"id":"HP:0001761","name":"Pes cavus"} {"id":"HP:0001762","name":"Talipes equinovarus"} {"id":"HP:0001763","name":"Pes planus"} {"id":"HP:0001765","name":"Hammertoe"} {"id":"HP:0001769","name":"Broad foot"} {"id":"HP:0001770","name":"Toe syndactyly"} {"id":"HP:0001771","name":"Achilles tendon contracture"} {"id":"HP:0001772","name":"Talipes equinovalgus"} {"id":"HP:0001773","name":"Short foot"} {"id":"HP:0001775","name":"Tarsal osteovalgus"} {"id":"HP:0001776","name":"Bilateral talipes equinovarus"} {"id":"HP:0001780","name":"Abnormality of toe"} {"id":"HP:0001782","name":"Bulbous tips of toes"} {"id":"HP:0001783","name":"Broad metatarsal"} {"id":"HP:0001785","name":"Ankle swelling"} {"id":"HP:0001786","name":"Narrow foot"} {"id":"HP:0001787","name":"Abnormal delivery"} {"id":"HP:0001788","name":"Premature rupture of membranes"} {"id":"HP:0001789","name":"Hydrops fetalis"} {"id":"HP:0001790","name":"Nonimmune hydrops fetalis"} {"id":"HP:0001791","name":"Fetal ascites"} {"id":"HP:0001792","name":"Small nail"} {"id":"HP:0001795","name":"Hyperconvex nail"} {"id":"HP:0001798","name":"Anonychia"} {"id":"HP:0001799","name":"Short nail"} {"id":"HP:0001800","name":"Hypoplastic toenails"} {"id":"HP:0001802","name":"Absent toenail"} {"id":"HP:0001803","name":"Nail pits"} {"id":"HP:0001804","name":"Hypoplastic fingernail"} {"id":"HP:0001805","name":"Thick nail"} {"id":"HP:0001806","name":"Onycholysis"} {"id":"HP:0001807","name":"Ridged nail"} {"id":"HP:0001808","name":"Fragile nails"} {"id":"HP:0001809","name":"Split nail"} {"id":"HP:0001810","name":"Dystrophic toenail"} {"id":"HP:0001812","name":"Hyperconvex fingernails"} {"id":"HP:0001814","name":"Deep-set nails"} {"id":"HP:0001816","name":"Thin nail"} {"id":"HP:0001817","name":"Absent fingernail"} {"id":"HP:0001818","name":"Paronychia"} {"id":"HP:0001820","name":"Leukonychia"} {"id":"HP:0001821","name":"Broad nail"} {"id":"HP:0001822","name":"Hallux valgus"} {"id":"HP:0001824","name":"Weight loss"} {"id":"HP:0001827","name":"Genital tract atresia"} {"id":"HP:0001829","name":"Foot polydactyly"} {"id":"HP:0001830","name":"Postaxial foot polydactyly"} {"id":"HP:0001831","name":"Short toe"} {"id":"HP:0001832","name":"Abnormality of the metatarsal bones"} {"id":"HP:0001833","name":"Long foot"} {"id":"HP:0001836","name":"Camptodactyly of toe"} {"id":"HP:0001837","name":"Broad toe"} {"id":"HP:0001838","name":"Rocker bottom foot"} {"id":"HP:0001839","name":"Split foot"} {"id":"HP:0001840","name":"Metatarsus adductus"} {"id":"HP:0001841","name":"Preaxial foot polydactyly"} {"id":"HP:0001842","name":"Acroosteolysis (feet)"} {"id":"HP:0001844","name":"Abnormality of the hallux"} {"id":"HP:0001845","name":"Overlapping toe"} {"id":"HP:0001847","name":"Long hallux"} {"id":"HP:0001848","name":"Calcaneovalgus deformity"} {"id":"HP:0001849","name":"Oligodactyly (feet)"} {"id":"HP:0001850","name":"Abnormality of the tarsal bones"} {"id":"HP:0001852","name":"Sandal gap"} {"id":"HP:0001853","name":"Bifid distal phalanx of toe"} {"id":"HP:0001854","name":"Gout (feet)"} {"id":"HP:0001857","name":"Short distal phalanx of toe"} {"id":"HP:0001859","name":"Distal symphalangism (feet)"} {"id":"HP:0001862","name":"Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)"} {"id":"HP:0001863","name":"Toe clinodactyly"} {"id":"HP:0001864","name":"Clinodactyly of the 5th toe"} {"id":"HP:0001868","name":"Autoamputation (feet)"} {"id":"HP:0001869","name":"Deep plantar creases"} {"id":"HP:0001870","name":"Acroosteolysis of distal phalanges (feet)"} {"id":"HP:0001871","name":"Abnormality of blood and blood-forming tissues"} {"id":"HP:0001872","name":"Abnormality of thrombocytes"} {"id":"HP:0001873","name":"Thrombocytopenia"} {"id":"HP:0001874","name":"Abnormality of neutrophils"} {"id":"HP:0001875","name":"Neutropenia"} {"id":"HP:0001876","name":"Pancytopenia"} {"id":"HP:0001877","name":"Abnormality of erythrocytes"} {"id":"HP:0001878","name":"Hemolytic anemia"} {"id":"HP:0001879","name":"Abnormality of eosinophils"} {"id":"HP:0001880","name":"Eosinophilia"} {"id":"HP:0001881","name":"Abnormality of leukocytes"} {"id":"HP:0001882","name":"Leukopenia"} {"id":"HP:0001883","name":"Talipes"} {"id":"HP:0001884","name":"Talipes calcaneovalgus"} {"id":"HP:0001885","name":"Short 2nd toe"} {"id":"HP:0001886","name":"Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)"} {"id":"HP:0001888","name":"Lymphopenia"} {"id":"HP:0001889","name":"Megaloblastic anemia"} {"id":"HP:0001890","name":"Autoimmune hemolytic anemia"} {"id":"HP:0001891","name":"Iron deficiency anemia"} {"id":"HP:0001892","name":"Abnormal bleeding"} {"id":"HP:0001894","name":"Thrombocytosis"} {"id":"HP:0001895","name":"Normochromic anemia"} {"id":"HP:0001896","name":"Reticulocytopenia"} {"id":"HP:0001897","name":"Normocytic anemia"} {"id":"HP:0001898","name":"Increased red blood cell mass"} {"id":"HP:0001899","name":"Increased hematocrit"} {"id":"HP:0001900","name":"Increased hemoglobin"} {"id":"HP:0001901","name":"Polycythemia"} {"id":"HP:0001902","name":"Giant platelets"} {"id":"HP:0001903","name":"Anemia"} {"id":"HP:0001904","name":"Autoimmune neutropenia"} {"id":"HP:0001905","name":"Congenital thrombocytopenia"} {"id":"HP:0001907","name":"Thromboembolism"} {"id":"HP:0001908","name":"Hypoplastic anemia"} {"id":"HP:0001909","name":"Leukemia"} {"id":"HP:0001911","name":"Abnormality of granulocytes"} {"id":"HP:0001912","name":"Abnormality of basophils"} {"id":"HP:0001913","name":"Granulocytopenia"} {"id":"HP:0001915","name":"Aplastic anemia"} {"id":"HP:0001917","name":"Renal amyloidosis"} {"id":"HP:0001919","name":"Acute kidney injury"} {"id":"HP:0001920","name":"Renal artery stenosis"} {"id":"HP:0001922","name":"Vacuolated lymphocytes"} {"id":"HP:0001923","name":"Reticulocytosis"} {"id":"HP:0001924","name":"Sideroblastic anemia"} {"id":"HP:0001927","name":"Acanthocytosis"} {"id":"HP:0001928","name":"Abnormality of coagulation"} {"id":"HP:0001929","name":"Reduced factor XI activity"} {"id":"HP:0001930","name":"Nonspherocytic hemolytic anemia"} {"id":"HP:0001931","name":"Hypochromic anemia"} {"id":"HP:0001933","name":"Subcutaneous hemorrhage"} {"id":"HP:0001934","name":"Persistent bleeding after trauma"} {"id":"HP:0001935","name":"Microcytic anemia"} {"id":"HP:0001937","name":"Microangiopathic hemolytic anemia"} {"id":"HP:0001939","name":"Abnormality of metabolism/homeostasis"} {"id":"HP:0001941","name":"Acidosis"} {"id":"HP:0001942","name":"Metabolic acidosis"} {"id":"HP:0001943","name":"Hypoglycemia"} {"id":"HP:0001944","name":"Dehydration"} {"id":"HP:0001945","name":"Fever"} {"id":"HP:0001946","name":"Ketosis"} {"id":"HP:0001947","name":"Renal tubular acidosis"} {"id":"HP:0001948","name":"Alkalosis"} {"id":"HP:0001949","name":"Hypokalemic alkalosis"} {"id":"HP:0001950","name":"Respiratory alkalosis"} {"id":"HP:0001951","name":"Episodic ammonia intoxication"} {"id":"HP:0001952","name":"Abnormal glucose tolerance"} {"id":"HP:0001953","name":"Diabetic ketoacidosis"} {"id":"HP:0001954","name":"Episodic fever"} {"id":"HP:0001955","name":"Unexplained fevers"} {"id":"HP:0001956","name":"Truncal obesity"} {"id":"HP:0001958","name":"Nonketotic hypoglycemia"} {"id":"HP:0001959","name":"Polydipsia"} {"id":"HP:0001960","name":"Hypokalemic metabolic alkalosis"} {"id":"HP:0001961","name":"Hypoplastic heart"} {"id":"HP:0001962","name":"Palpitations"} {"id":"HP:0001963","name":"Abnormal speech discrimination"} {"id":"HP:0001964","name":"Aplasia/Hypoplasia of metatarsal bones"} {"id":"HP:0001965","name":"Abnormality of the scalp"} {"id":"HP:0001966","name":"Mesangial abnormality"} {"id":"HP:0001967","name":"Diffuse mesangial sclerosis"} {"id":"HP:0001969","name":"Tubulointerstitial abnormality"} {"id":"HP:0001970","name":"Tubulointerstitial nephritis"} {"id":"HP:0001971","name":"Hypersplenism"} {"id":"HP:0001972","name":"Macrocytic anemia"} {"id":"HP:0001973","name":"Autoimmune thrombocytopenia"} {"id":"HP:0001974","name":"Leukocytosis"} {"id":"HP:0001975","name":"Decreased platelet glycoprotein IIb-IIIa"} {"id":"HP:0001976","name":"Reduced antithrombin III activity"} {"id":"HP:0001977","name":"Abnormal thrombosis"} {"id":"HP:0001978","name":"Extramedullary hematopoiesis"} {"id":"HP:0001980","name":"Megaloblastic bone marrow"} {"id":"HP:0001981","name":"Schistocytosis"} {"id":"HP:0001982","name":"Sea-blue histiocytosis"} {"id":"HP:0001983","name":"Reduced lymphocyte surface expression of CD43 (sialophorin)"} {"id":"HP:0001984","name":"Intolerance to protein"} {"id":"HP:0001985","name":"Hypoketotic hypoglycemia"} {"id":"HP:0001986","name":"Hypertonic dehydration"} {"id":"HP:0001987","name":"Hyperammonemia"} {"id":"HP:0001988","name":"Recurrent hypoglycemia"} {"id":"HP:0001989","name":"Fetal akinesia sequence"} {"id":"HP:0001991","name":"Aplasia/Hypoplasia of toe"} {"id":"HP:0001992","name":"Organic aciduria"} {"id":"HP:0001993","name":"Ketoacidosis"} {"id":"HP:0001994","name":"Renal Fanconi syndrome"} {"id":"HP:0001995","name":"Hyperchloremic acidosis"} {"id":"HP:0001996","name":"Chronic metabolic acidosis"} {"id":"HP:0001997","name":"Gout"} {"id":"HP:0001998","name":"Neonatal hypoglycemia"} {"id":"HP:0001999","name":"Abnormal facial shape"} {"id":"HP:0002000","name":"Short columella"} {"id":"HP:0002002","name":"Deep philtrum"} {"id":"HP:0002003","name":"Large forehead"} {"id":"HP:0002006","name":"Facial cleft"} {"id":"HP:0002007","name":"Frontal bossing"} {"id":"HP:0002009","name":"Potter facies"} {"id":"HP:0002010","name":"Narrow maxilla"} {"id":"HP:0002011","name":"Morphological abnormality of the central nervous system"} {"id":"HP:0002012","name":"Abnormality of the abdominal organs"} {"id":"HP:0002013","name":"Vomiting"} {"id":"HP:0002014","name":"Diarrhea"} {"id":"HP:0002015","name":"Dysphagia"} {"id":"HP:0002017","name":"Nausea and vomiting"} {"id":"HP:0002018","name":"Nausea"} {"id":"HP:0002019","name":"Constipation"} {"id":"HP:0002020","name":"Gastroesophageal reflux"} {"id":"HP:0002021","name":"Pyloric stenosis"} {"id":"HP:0002023","name":"Anal atresia"} {"id":"HP:0002024","name":"Malabsorption"} {"id":"HP:0002025","name":"Anal stenosis"} {"id":"HP:0002027","name":"Abdominal pain"} {"id":"HP:0002028","name":"Chronic diarrhea"} {"id":"HP:0002031","name":"Abnormality of the esophagus"} {"id":"HP:0002032","name":"Esophageal atresia"} {"id":"HP:0002033","name":"Poor suck"} {"id":"HP:0002034","name":"Abnormality of the rectum"} {"id":"HP:0002035","name":"Rectal prolapse"} {"id":"HP:0002036","name":"Hiatus hernia"} {"id":"HP:0002037","name":"Inflammation of the large intestine"} {"id":"HP:0002038","name":"Protein avoidance"} {"id":"HP:0002039","name":"Anorexia"} {"id":"HP:0002040","name":"Esophageal varix"} {"id":"HP:0002041","name":"Intractable diarrhea"} {"id":"HP:0002043","name":"Esophageal stricture"} {"id":"HP:0002044","name":"Zollinger-Ellison syndrome"} {"id":"HP:0002045","name":"Hypothermia"} {"id":"HP:0002046","name":"Heat intolerance"} {"id":"HP:0002047","name":"Malignant hyperthermia"} {"id":"HP:0002048","name":"Renal cortical atrophy"} {"id":"HP:0002049","name":"Proximal renal tubular acidosis"} {"id":"HP:0002050","name":"Macroorchidism, postpubertal"} {"id":"HP:0002054","name":"Heavy supraorbital ridges"} {"id":"HP:0002055","name":"Curved linear dimple below the lower lip"} {"id":"HP:0002056","name":"Abnormality of the glabella"} {"id":"HP:0002057","name":"Prominent glabella"} {"id":"HP:0002058","name":"Myopathic facies"} {"id":"HP:0002059","name":"Cerebral atrophy"} {"id":"HP:0002060","name":"Abnormality of the cerebrum"} {"id":"HP:0002061","name":"Lower limb spasticity"} {"id":"HP:0002062","name":"Morphological abnormality of the pyramidal tract"} {"id":"HP:0002063","name":"Rigidity"} {"id":"HP:0002064","name":"Spastic gait"} {"id":"HP:0002066","name":"Gait ataxia"} {"id":"HP:0002067","name":"Bradykinesia"} {"id":"HP:0002068","name":"Neuromuscular dysphagia"} {"id":"HP:0002069","name":"Generalized tonic-clonic seizures"} {"id":"HP:0002070","name":"Limb ataxia"} {"id":"HP:0002071","name":"Abnormality of extrapyramidal motor function"} {"id":"HP:0002072","name":"Chorea"} {"id":"HP:0002073","name":"Progressive cerebellar ataxia"} {"id":"HP:0002074","name":"Increased neuronal autofluorescent lipopigment"} {"id":"HP:0002075","name":"Dysdiadochokinesis"} {"id":"HP:0002076","name":"Migraine"} {"id":"HP:0002077","name":"Migraine with aura"} {"id":"HP:0002078","name":"Truncal ataxia"} {"id":"HP:0002079","name":"Hypoplasia of the corpus callosum"} {"id":"HP:0002080","name":"Intention tremor"} {"id":"HP:0002083","name":"Migraine without aura"} {"id":"HP:0002084","name":"Encephalocele"} {"id":"HP:0002085","name":"Occipital encephalocele"} {"id":"HP:0002086","name":"Abnormality of the respiratory system"} {"id":"HP:0002087","name":"Abnormality of the upper respiratory tract"} {"id":"HP:0002088","name":"Abnormality of the lung"} {"id":"HP:0002089","name":"Pulmonary hypoplasia"} {"id":"HP:0002090","name":"Pneumonia"} {"id":"HP:0002091","name":"Restrictive lung disease"} {"id":"HP:0002092","name":"Pulmonary hypertension"} {"id":"HP:0002093","name":"Respiratory insufficiency"} {"id":"HP:0002094","name":"Dyspnea"} {"id":"HP:0002097","name":"Emphysema"} {"id":"HP:0002098","name":"Respiratory distress"} {"id":"HP:0002099","name":"Asthma"} {"id":"HP:0002100","name":"Recurrent aspiration pneumonia"} {"id":"HP:0002101","name":"Abnormal lung lobation"} {"id":"HP:0002102","name":"Pleuritis"} {"id":"HP:0002103","name":"Abnormality of the pleura"} {"id":"HP:0002104","name":"Apnea"} {"id":"HP:0002105","name":"Hemoptysis"} {"id":"HP:0002107","name":"Pneumothorax"} {"id":"HP:0002108","name":"Spontaneous pneumothorax"} {"id":"HP:0002109","name":"Abnormality of the bronchi"} {"id":"HP:0002110","name":"Bronchiectasis"} {"id":"HP:0002111","name":"Restrictive respiratory insufficiency"} {"id":"HP:0002113","name":"Pulmonary infiltrates"} {"id":"HP:0002118","name":"Abnormality of the cerebral ventricles"} {"id":"HP:0002119","name":"Ventriculomegaly"} {"id":"HP:0002120","name":"Cerebral cortical atrophy"} {"id":"HP:0002121","name":"Absence seizures"} {"id":"HP:0002123","name":"Generalized myoclonic seizures"} {"id":"HP:0002126","name":"Polymicrogyria"} {"id":"HP:0002127","name":"Abnormal upper motor neuron morphology"} {"id":"HP:0002131","name":"Episodic ataxia"} {"id":"HP:0002132","name":"Porencephaly"} {"id":"HP:0002133","name":"Status epilepticus"} {"id":"HP:0002134","name":"Abnormality of the basal ganglia"} {"id":"HP:0002135","name":"Basal ganglia calcification"} {"id":"HP:0002136","name":"Broad-based gait"} {"id":"HP:0002138","name":"Subarachnoid hemorrhage"} {"id":"HP:0002139","name":"Arrhinencephaly"} {"id":"HP:0002140","name":"Ischemic stroke"} {"id":"HP:0002141","name":"Gait imbalance"} {"id":"HP:0002143","name":"Abnormality of the spinal cord"} {"id":"HP:0002144","name":"Tethered cord"} {"id":"HP:0002145","name":"Frontotemporal dementia"} {"id":"HP:0002148","name":"Hypophosphatemia"} {"id":"HP:0002149","name":"Hyperuricemia"} {"id":"HP:0002150","name":"Hypercalciuria"} {"id":"HP:0002151","name":"Increased serum lactate"} {"id":"HP:0002152","name":"Hyperproteinemia"} {"id":"HP:0002153","name":"Hyperkalemia"} {"id":"HP:0002154","name":"Hyperglycinemia"} {"id":"HP:0002155","name":"Hypertriglyceridemia"} {"id":"HP:0002156","name":"Homocystinuria"} {"id":"HP:0002157","name":"Azotemia"} {"id":"HP:0002159","name":"Heparan sulfate excretion in urine"} {"id":"HP:0002160","name":"Hyperhomocystinemia"} {"id":"HP:0002161","name":"Hyperlysinemia"} {"id":"HP:0002162","name":"Low posterior hairline"} {"id":"HP:0002164","name":"Nail dysplasia"} {"id":"HP:0002165","name":"Pterygium formation (nails)"} {"id":"HP:0002166","name":"Impaired vibration sensation in the lower limbs"} {"id":"HP:0002167","name":"Neurological speech impairment"} {"id":"HP:0002168","name":"Scanning speech"} {"id":"HP:0002169","name":"Clonus"} {"id":"HP:0002170","name":"Intracranial hemorrhage"} {"id":"HP:0002171","name":"Gliosis"} {"id":"HP:0002172","name":"Postural instability"} {"id":"HP:0002173","name":"Hypoglycemic seizures"} {"id":"HP:0002174","name":"Postural tremor"} {"id":"HP:0002176","name":"Spinal cord compression"} {"id":"HP:0002179","name":"Opisthotonus"} {"id":"HP:0002180","name":"Neurodegeneration"} {"id":"HP:0002181","name":"Cerebral edema"} {"id":"HP:0002183","name":"Phonophobia"} {"id":"HP:0002185","name":"Neurofibrillary tangles"} {"id":"HP:0002186","name":"Apraxia"} {"id":"HP:0002187","name":"Intellectual disability, profound"} {"id":"HP:0002188","name":"Delayed CNS myelination"} {"id":"HP:0002189","name":"Excessive daytime sleepiness"} {"id":"HP:0002190","name":"Choroid plexus cyst"} {"id":"HP:0002191","name":"Progressive spasticity"} {"id":"HP:0002193","name":"Pseudobulbar behavioral symptoms"} {"id":"HP:0002194","name":"Delayed gross motor development"} {"id":"HP:0002195","name":"Dysgenesis of the cerebellar vermis"} {"id":"HP:0002196","name":"Myelopathy"} {"id":"HP:0002197","name":"Generalized seizures"} {"id":"HP:0002198","name":"Dilated fourth ventricle"} {"id":"HP:0002199","name":"Hypocalcemic seizures"} {"id":"HP:0002200","name":"Pseudobulbar signs"} {"id":"HP:0002202","name":"Pleural effusion"} {"id":"HP:0002203","name":"Respiratory paralysis"} {"id":"HP:0002204","name":"Pulmonary embolism"} {"id":"HP:0002205","name":"Recurrent respiratory infections"} {"id":"HP:0002206","name":"Pulmonary fibrosis"} {"id":"HP:0002207","name":"Diffuse reticular or finely nodular infiltrations"} {"id":"HP:0002208","name":"Coarse hair"} {"id":"HP:0002209","name":"Sparse scalp hair"} {"id":"HP:0002211","name":"White forelock"} {"id":"HP:0002212","name":"Curly hair"} {"id":"HP:0002213","name":"Fine hair"} {"id":"HP:0002215","name":"Sparse axillary hair"} {"id":"HP:0002216","name":"Premature graying of hair"} {"id":"HP:0002217","name":"Slow-growing hair"} {"id":"HP:0002218","name":"Silver-gray hair"} {"id":"HP:0002219","name":"Facial hypertrichosis"} {"id":"HP:0002220","name":"Melanin pigment aggregation in hair shafts"} {"id":"HP:0002221","name":"Absent axillary hair"} {"id":"HP:0002223","name":"Absent eyebrow"} {"id":"HP:0002224","name":"Woolly hair"} {"id":"HP:0002225","name":"Sparse pubic hair"} {"id":"HP:0002226","name":"White eyebrow"} {"id":"HP:0002227","name":"White eyelashes"} {"id":"HP:0002229","name":"Alopecia areata"} {"id":"HP:0002230","name":"Generalized hirsutism"} {"id":"HP:0002231","name":"Sparse body hair"} {"id":"HP:0002232","name":"Patchy alopecia"} {"id":"HP:0002234","name":"Early balding"} {"id":"HP:0002235","name":"Pili canaliculi"} {"id":"HP:0002236","name":"Frontal upsweep of hair"} {"id":"HP:0002239","name":"Gastrointestinal hemorrhage"} {"id":"HP:0002240","name":"Hepatomegaly"} {"id":"HP:0002242","name":"Abnormality of the intestine"} {"id":"HP:0002243","name":"Protein-losing enteropathy"} {"id":"HP:0002244","name":"Abnormality of the small intestine"} {"id":"HP:0002245","name":"Meckel diverticulum"} {"id":"HP:0002246","name":"Abnormality of the duodenum"} {"id":"HP:0002247","name":"Duodenal atresia"} {"id":"HP:0002248","name":"Hematemesis"} {"id":"HP:0002249","name":"Melena"} {"id":"HP:0002250","name":"Abnormality of the large intestine"} {"id":"HP:0002251","name":"Aganglionic megacolon"} {"id":"HP:0002253","name":"Colonic diverticulosis"} {"id":"HP:0002254","name":"Intermittent diarrhea"} {"id":"HP:0002256","name":"Small bowel diverticula"} {"id":"HP:0002257","name":"Chronic rhinitis"} {"id":"HP:0002263","name":"Exaggerated cupid's bow"} {"id":"HP:0002265","name":"Large fleshy ears"} {"id":"HP:0002266","name":"Focal clonic seizures"} {"id":"HP:0002267","name":"Exaggerated startle response"} {"id":"HP:0002268","name":"Paroxysmal dystonia"} {"id":"HP:0002269","name":"Abnormality of neuronal migration"} {"id":"HP:0002270","name":"Abnormality of the autonomic nervous system"} {"id":"HP:0002271","name":"Autonomic dysregulation"} {"id":"HP:0002273","name":"Tetraparesis"} {"id":"HP:0002275","name":"Poor motor coordination"} {"id":"HP:0002277","name":"Horner syndrome"} {"id":"HP:0002280","name":"Enlarged cisterna magna"} {"id":"HP:0002281","name":"Gray matter heterotopias"} {"id":"HP:0002282","name":"Heterotopia"} {"id":"HP:0002283","name":"Global brain atrophy"} {"id":"HP:0002286","name":"Fair hair"} {"id":"HP:0002287","name":"Progressive alopecia"} {"id":"HP:0002289","name":"Alopecia universalis"} {"id":"HP:0002290","name":"Poliosis"} {"id":"HP:0002292","name":"Frontal balding"} {"id":"HP:0002293","name":"Alopecia of scalp"} {"id":"HP:0002296","name":"Progressive hypotrichosis"} {"id":"HP:0002297","name":"Red hair"} {"id":"HP:0002298","name":"Absent hair"} {"id":"HP:0002299","name":"Brittle hair"} {"id":"HP:0002300","name":"Mutism"} {"id":"HP:0002301","name":"Hemiplegia"} {"id":"HP:0002304","name":"Akinesia"} {"id":"HP:0002305","name":"Athetosis"} {"id":"HP:0002307","name":"Drooling"} {"id":"HP:0002308","name":"Arnold-Chiari malformation"} {"id":"HP:0002310","name":"Orofacial dyskinesia"} {"id":"HP:0002311","name":"Incoordination"} {"id":"HP:0002312","name":"Clumsiness"} {"id":"HP:0002313","name":"Spastic paraparesis"} {"id":"HP:0002314","name":"Degeneration of the lateral corticospinal tracts"} {"id":"HP:0002315","name":"Headache"} {"id":"HP:0002317","name":"Unsteady gait"} {"id":"HP:0002318","name":"Cervical myelopathy"} {"id":"HP:0002321","name":"Vertigo"} {"id":"HP:0002322","name":"Resting tremor"} {"id":"HP:0002323","name":"Anencephaly"} {"id":"HP:0002324","name":"Hydranencephaly"} {"id":"HP:0002326","name":"Transient ischemic attack"} {"id":"HP:0002329","name":"Drowsiness"} {"id":"HP:0002330","name":"Paroxysmal drowsiness"} {"id":"HP:0002331","name":"Headache (with pheochromocytoma)"} {"id":"HP:0002332","name":"Lack of peer relationships"} {"id":"HP:0002333","name":"Motor deterioration"} {"id":"HP:0002334","name":"Abnormality of the cerebellar vermis"} {"id":"HP:0002335","name":"Agenesis of cerebellar vermis"} {"id":"HP:0002339","name":"Abnormality of the caudate nucleus"} {"id":"HP:0002340","name":"Caudate atrophy"} {"id":"HP:0002341","name":"Cervical cord compression"} {"id":"HP:0002342","name":"Intellectual disability, moderate"} {"id":"HP:0002343","name":"Normal pressure hydrocephalus"} {"id":"HP:0002344","name":"Progressive neurologic deterioration"} {"id":"HP:0002345","name":"Action tremor"} {"id":"HP:0002346","name":"Head tremor"} {"id":"HP:0002349","name":"Focal seizures without impairment of consciousness or awareness"} {"id":"HP:0002350","name":"Cerebellar cyst"} {"id":"HP:0002352","name":"Leukoencephalopathy"} {"id":"HP:0002353","name":"EEG abnormality"} {"id":"HP:0002354","name":"Memory impairment"} {"id":"HP:0002355","name":"Difficulty walking"} {"id":"HP:0002356","name":"Writer's cramp"} {"id":"HP:0002357","name":"Dysphasia"} {"id":"HP:0002359","name":"Frequent falls"} {"id":"HP:0002360","name":"Sleep disturbance"} {"id":"HP:0002361","name":"Psychomotor deterioration"} {"id":"HP:0002362","name":"Shuffling gait"} {"id":"HP:0002363","name":"Abnormality of brainstem morphology"} {"id":"HP:0002365","name":"Hypoplasia of the brainstem"} {"id":"HP:0002366","name":"Abnormal lower motor neuron morphology"} {"id":"HP:0002367","name":"Visual hallucinations"} {"id":"HP:0002370","name":"Poor coordination"} {"id":"HP:0002371","name":"Loss of speech"} {"id":"HP:0002372","name":"Normal interictal EEG"} {"id":"HP:0002373","name":"Febrile seizures"} {"id":"HP:0002374","name":"Diminished movement"} {"id":"HP:0002375","name":"Hypokinesia"} {"id":"HP:0002376","name":"Developmental regression"} {"id":"HP:0002377","name":"Paraganglioma-related cranial nerve palsy"} {"id":"HP:0002378","name":"Hand tremor"} {"id":"HP:0002380","name":"Fasciculations"} {"id":"HP:0002381","name":"Aphasia"} {"id":"HP:0002383","name":"Encephalitis"} {"id":"HP:0002384","name":"Focal seizures with impairment of consciousness or awareness"} {"id":"HP:0002385","name":"Paraparesis"} {"id":"HP:0002389","name":"Cavum septum pellucidum"} {"id":"HP:0002390","name":"Spinal arteriovenous malformation"} {"id":"HP:0002392","name":"EEG with polyspike wave complexes"} {"id":"HP:0002395","name":"Lower limb hyperreflexia"} {"id":"HP:0002396","name":"Cogwheel rigidity"} {"id":"HP:0002398","name":"Degeneration of anterior horn cells"} {"id":"HP:0002401","name":"Stroke-like episodes"} {"id":"HP:0002403","name":"Positive Romberg sign"} {"id":"HP:0002404","name":"Thickened superior cerebellar peduncle"} {"id":"HP:0002406","name":"Limb dysmetria"} {"id":"HP:0002408","name":"Cerebral arteriovenous malformation"} {"id":"HP:0002410","name":"Aqueductal stenosis"} {"id":"HP:0002411","name":"Myokymia"} {"id":"HP:0002414","name":"Spina bifida"} {"id":"HP:0002415","name":"Leukodystrophy"} {"id":"HP:0002416","name":"Subependymal cysts"} {"id":"HP:0002418","name":"Abnormality of midbrain morphology"} {"id":"HP:0002419","name":"Molar tooth sign on MRI"} {"id":"HP:0002421","name":"Poor head control"} {"id":"HP:0002423","name":"Long-tract signs"} {"id":"HP:0002425","name":"Anarthria"} {"id":"HP:0002427","name":"Motor aphasia"} {"id":"HP:0002435","name":"Meningocele"} {"id":"HP:0002436","name":"Occipital meningocele"} {"id":"HP:0002438","name":"Cerebellar malformation"} {"id":"HP:0002439","name":"Frontolimbic dementia"} {"id":"HP:0002442","name":"Dyscalculia"} {"id":"HP:0002444","name":"Hypothalamic hamartoma"} {"id":"HP:0002445","name":"Tetraplegia"} {"id":"HP:0002446","name":"Astrocytosis"} {"id":"HP:0002448","name":"Progressive encephalopathy"} {"id":"HP:0002450","name":"Abnormal motor neuron morphology"} {"id":"HP:0002451","name":"Limb dystonia"} {"id":"HP:0002453","name":"Abnormality of the globus pallidus"} {"id":"HP:0002454","name":"Eye of the tiger anomaly of globus pallidus"} {"id":"HP:0002457","name":"Abnormal head movements"} {"id":"HP:0002459","name":"Dysautonomia"} {"id":"HP:0002460","name":"Distal muscle weakness"} {"id":"HP:0002461","name":"Dense calcifications in the cerebellar dentate nucleus"} {"id":"HP:0002463","name":"Language impairment"} {"id":"HP:0002464","name":"Spastic dysarthria"} {"id":"HP:0002465","name":"Poor speech"} {"id":"HP:0002470","name":"Nonprogressive cerebellar ataxia"} {"id":"HP:0002472","name":"Small cerebral cortex"} {"id":"HP:0002474","name":"Expressive language delay"} {"id":"HP:0002475","name":"Myelomeningocele"} {"id":"HP:0002476","name":"Primitive reflexes (palmomental, snout, glabellar)"} {"id":"HP:0002478","name":"Progressive spastic quadriplegia"} {"id":"HP:0002480","name":"Hepatic encephalopathy"} {"id":"HP:0002483","name":"Bulbar signs"} {"id":"HP:0002486","name":"Myotonia"} {"id":"HP:0002487","name":"Hyperkinesis"} {"id":"HP:0002488","name":"Acute leukemia"} {"id":"HP:0002490","name":"Increased CSF lactate"} {"id":"HP:0002491","name":"Spasticity of facial muscles"} {"id":"HP:0002492","name":"Abnormality of the corticospinal tract"} {"id":"HP:0002493","name":"Upper motor neuron dysfunction"} {"id":"HP:0002494","name":"Abnormal rapid eye movement (REM) sleep"} {"id":"HP:0002495","name":"Impaired vibratory sensation"} {"id":"HP:0002497","name":"Spastic ataxia"} {"id":"HP:0002500","name":"Abnormality of the cerebral white matter"} {"id":"HP:0002501","name":"Spasticity of pharyngeal muscles"} {"id":"HP:0002503","name":"Spinocerebellar tract degeneration"} {"id":"HP:0002504","name":"Calcification of the small brain vessels"} {"id":"HP:0002505","name":"Progressive inability to walk"} {"id":"HP:0002506","name":"Diffuse cerebral atrophy"} {"id":"HP:0002507","name":"Semilobar holoprosencephaly"} {"id":"HP:0002508","name":"Brainstem dysplasia"} {"id":"HP:0002509","name":"Limb hypertonia"} {"id":"HP:0002510","name":"Spastic tetraplegia"} {"id":"HP:0002511","name":"Alzheimer disease"} {"id":"HP:0002512","name":"Brain stem compression"} {"id":"HP:0002514","name":"Cerebral calcification"} {"id":"HP:0002515","name":"Waddling gait"} {"id":"HP:0002516","name":"Increased intracranial pressure"} {"id":"HP:0002518","name":"Abnormality of the periventricular white matter"} {"id":"HP:0002519","name":"Hypnagogic hallucinations"} {"id":"HP:0002521","name":"Hypsarrhythmia"} {"id":"HP:0002522","name":"Areflexia of lower limbs"} {"id":"HP:0002524","name":"Cataplexy"} {"id":"HP:0002526","name":"Deficit in nonword repetition"} {"id":"HP:0002527","name":"Falls"} {"id":"HP:0002528","name":"Granulovacuolar degeneration"} {"id":"HP:0002529","name":"Neuronal loss in central nervous system"} {"id":"HP:0002530","name":"Axial dystonia"} {"id":"HP:0002533","name":"Abnormal posturing"} {"id":"HP:0002536","name":"Abnormal cortical gyration"} {"id":"HP:0002538","name":"Abnormality of the cerebral cortex"} {"id":"HP:0002539","name":"Cortical dysplasia"} {"id":"HP:0002540","name":"Inability to walk"} {"id":"HP:0002542","name":"Olivopontocerebellar atrophy"} {"id":"HP:0002544","name":"Retrocollis"} {"id":"HP:0002545","name":"Patchy demyelination of subcortical white matter"} {"id":"HP:0002546","name":"Incomprehensible speech"} {"id":"HP:0002548","name":"Parkinsonism with favorable response to dopaminergic medication"} {"id":"HP:0002549","name":"Deficit in phonologic short-term memory"} {"id":"HP:0002550","name":"Absent facial hair"} {"id":"HP:0002552","name":"Trichodysplasia"} {"id":"HP:0002553","name":"Highly arched eyebrow"} {"id":"HP:0002555","name":"Absent pubic hair"} {"id":"HP:0002557","name":"Hypoplastic nipples"} {"id":"HP:0002558","name":"Supernumerary nipple"} {"id":"HP:0002561","name":"Absent nipple"} {"id":"HP:0002562","name":"Low-set nipples"} {"id":"HP:0002563","name":"Constrictive pericarditis"} {"id":"HP:0002564","name":"Malformation of the heart and great vessels"} {"id":"HP:0002566","name":"Intestinal malrotation"} {"id":"HP:0002570","name":"Steatorrhea"} {"id":"HP:0002571","name":"Achalasia"} {"id":"HP:0002572","name":"Episodic vomiting"} {"id":"HP:0002573","name":"Hematochezia"} {"id":"HP:0002574","name":"Episodic abdominal pain"} {"id":"HP:0002575","name":"Tracheoesophageal fistula"} {"id":"HP:0002576","name":"Intussusception"} {"id":"HP:0002577","name":"Abnormality of the stomach"} {"id":"HP:0002578","name":"Gastroparesis"} {"id":"HP:0002579","name":"Gastrointestinal dysmotility"} {"id":"HP:0002580","name":"Volvulus"} {"id":"HP:0002582","name":"Chronic atrophic gastritis"} {"id":"HP:0002583","name":"Colitis"} {"id":"HP:0002584","name":"Intestinal bleeding"} {"id":"HP:0002585","name":"Abnormality of the peritoneum"} {"id":"HP:0002586","name":"Peritonitis"} {"id":"HP:0002587","name":"Projectile vomiting"} {"id":"HP:0002588","name":"Duodenal ulcer"} {"id":"HP:0002589","name":"Gastrointestinal atresia"} {"id":"HP:0002590","name":"Paralytic ileus"} {"id":"HP:0002591","name":"Polyphagia"} {"id":"HP:0002592","name":"Gastric ulcer"} {"id":"HP:0002593","name":"Intestinal lymphangiectasia"} {"id":"HP:0002594","name":"Pancreatic hypoplasia"} {"id":"HP:0002595","name":"Ileus"} {"id":"HP:0002597","name":"Abnormality of the vasculature"} {"id":"HP:0002599","name":"Head titubation"} {"id":"HP:0002600","name":"Hyporeflexia of lower limbs"} {"id":"HP:0002601","name":"Paresis of extensor muscles of the big toe"} {"id":"HP:0002604","name":"Gastrointestinal telangiectasia"} {"id":"HP:0002605","name":"Hepatic necrosis"} {"id":"HP:0002607","name":"Bowel incontinence"} {"id":"HP:0002608","name":"Celiac disease"} {"id":"HP:0002611","name":"Cholestatic liver disease"} {"id":"HP:0002612","name":"Congenital hepatic fibrosis"} {"id":"HP:0002613","name":"Biliary cirrhosis"} {"id":"HP:0002614","name":"Hepatic periportal necrosis"} {"id":"HP:0002615","name":"Hypotension"} {"id":"HP:0002616","name":"Aortic root dilatation"} {"id":"HP:0002617","name":"Aneurysm"} {"id":"HP:0002619","name":"Varicose veins"} {"id":"HP:0002621","name":"Atherosclerosis"} {"id":"HP:0002622","name":"Dissecting aortic aneurysm"} {"id":"HP:0002623","name":"Overriding aorta"} {"id":"HP:0002624","name":"Venous abnormality"} {"id":"HP:0002625","name":"Deep venous thrombosis"} {"id":"HP:0002626","name":"Venous varicosities of celiac and mesenteric vessels"} {"id":"HP:0002627","name":"Right aortic arch with mirror image branching"} {"id":"HP:0002629","name":"Gastrointestinal arteriovenous malformation"} {"id":"HP:0002630","name":"Fat malabsorption"} {"id":"HP:0002631","name":"Ascending aortic aneurysm"} {"id":"HP:0002632","name":"Low-to-normal blood pressure"} {"id":"HP:0002633","name":"Vasculitis"} {"id":"HP:0002634","name":"Arteriosclerosis"} {"id":"HP:0002635","name":"Atheromatosis"} {"id":"HP:0002636","name":"Aneurysm of an abdominal artery"} {"id":"HP:0002637","name":"Cerebral ischemia"} {"id":"HP:0002638","name":"Superficial thrombophlebitis"} {"id":"HP:0002639","name":"Budd-Chiari syndrome"} {"id":"HP:0002640","name":"Hypertension associated with pheochromocytoma"} {"id":"HP:0002641","name":"Peripheral thrombosis"} {"id":"HP:0002642","name":"Arteriovenous fistulas of celiac and mesenteric vessels"} {"id":"HP:0002643","name":"Neonatal respiratory distress"} {"id":"HP:0002644","name":"Abnormality of pelvic girdle bone morphology"} {"id":"HP:0002645","name":"Wormian bones"} {"id":"HP:0002647","name":"Aortic dissection"} {"id":"HP:0002648","name":"Abnormality of calvarial morphology"} {"id":"HP:0002650","name":"Scoliosis"} {"id":"HP:0002651","name":"Spondyloepimetaphyseal dysplasia"} {"id":"HP:0002652","name":"Skeletal dysplasia"} {"id":"HP:0002653","name":"Bone pain"} {"id":"HP:0002654","name":"Multiple epiphyseal dysplasia"} {"id":"HP:0002655","name":"Spondyloepiphyseal dysplasia"} {"id":"HP:0002656","name":"Epiphyseal dysplasia"} {"id":"HP:0002657","name":"Spondylometaphyseal dysplasia"} {"id":"HP:0002659","name":"Increased susceptibility to fractures"} {"id":"HP:0002661","name":"Painless fractures due to injury"} {"id":"HP:0002663","name":"Delayed epiphyseal ossification"} {"id":"HP:0002664","name":"Neoplasm"} {"id":"HP:0002665","name":"Lymphoma"} {"id":"HP:0002666","name":"Pheochromocytoma"} {"id":"HP:0002667","name":"Nephroblastoma (Wilms tumor)"} {"id":"HP:0002668","name":"Paraganglioma"} {"id":"HP:0002669","name":"Osteosarcoma"} {"id":"HP:0002671","name":"Basal cell carcinoma"} {"id":"HP:0002672","name":"Gastrointestinal carcinoma"} {"id":"HP:0002673","name":"Coxa valga"} {"id":"HP:0002676","name":"Cloverleaf skull"} {"id":"HP:0002677","name":"Small foramen magnum"} {"id":"HP:0002678","name":"Skull asymmetry"} {"id":"HP:0002679","name":"Abnormality of the sella turcica"} {"id":"HP:0002680","name":"J-shaped sella turcica"} {"id":"HP:0002681","name":"Deformed sella turcica"} {"id":"HP:0002682","name":"Broad skull"} {"id":"HP:0002683","name":"Abnormality of the calvaria"} {"id":"HP:0002684","name":"Thickened calvaria"} {"id":"HP:0002686","name":"Prenatal maternal abnormality"} {"id":"HP:0002687","name":"Abnormality of the frontal sinuses"} {"id":"HP:0002688","name":"Absent frontal sinuses"} {"id":"HP:0002689","name":"Absent paranasal sinuses"} {"id":"HP:0002690","name":"Large sella turcica"} {"id":"HP:0002691","name":"Platybasia"} {"id":"HP:0002692","name":"Hypoplastic facial bones"} {"id":"HP:0002693","name":"Abnormality of the skull base"} {"id":"HP:0002694","name":"Sclerosis of skull base"} {"id":"HP:0002695","name":"Symmetrical, oval parietal bone defects"} {"id":"HP:0002696","name":"Abnormality of the parietal bone"} {"id":"HP:0002697","name":"Parietal foramina"} {"id":"HP:0002699","name":"Abnormality of the foramen magnum"} {"id":"HP:0002700","name":"Large foramen magnum"} {"id":"HP:0002703","name":"Abnormality of skull ossification"} {"id":"HP:0002705","name":"High, narrow palate"} {"id":"HP:0002707","name":"Palate telangiectasia"} {"id":"HP:0002708","name":"Prominent median palatal raphe"} {"id":"HP:0002710","name":"Commissural lip pit"} {"id":"HP:0002711","name":"Exaggerated median tongue furrow"} {"id":"HP:0002714","name":"Downturned corners of mouth"} {"id":"HP:0002715","name":"Abnormality of the immune system"} {"id":"HP:0002716","name":"Lymphadenopathy"} {"id":"HP:0002717","name":"Adrenal overactivity"} {"id":"HP:0002718","name":"Recurrent bacterial infections"} {"id":"HP:0002719","name":"Recurrent infections"} {"id":"HP:0002720","name":"IgA deficiency"} {"id":"HP:0002721","name":"Immunodeficiency"} {"id":"HP:0002722","name":"Recurrent abscess formation"} {"id":"HP:0002723","name":"Absence of bactericidal oxidative 'respiratory burst' in phagocytes"} {"id":"HP:0002724","name":"Recurrent Aspergillus infections"} {"id":"HP:0002725","name":"Systemic lupus erythematosus"} {"id":"HP:0002726","name":"Recurrent Staphylococcus aureus infections"} {"id":"HP:0002728","name":"Chronic mucocutaneous candidiasis"} {"id":"HP:0002729","name":"Follicular hyperplasia"} {"id":"HP:0002730","name":"Chronic noninfectious lymphadenopathy"} {"id":"HP:0002731","name":"Defective lymphocyte apoptosis"} {"id":"HP:0002732","name":"Lymph node hypoplasia"} {"id":"HP:0002733","name":"Abnormality of the lymph nodes"} {"id":"HP:0002737","name":"Thick skull base"} {"id":"HP:0002738","name":"Hypoplastic frontal sinuses"} {"id":"HP:0002740","name":"Recurrent E. coli infections"} {"id":"HP:0002741","name":"Recurrent Serratia marcescens infections"} {"id":"HP:0002742","name":"Recurrent Klebsiella infections"} {"id":"HP:0002743","name":"Recurrent enteroviral infections"} {"id":"HP:0002744","name":"Bilateral cleft lip and palate"} {"id":"HP:0002745","name":"Oral leukoplakia"} {"id":"HP:0002747","name":"Respiratory insufficiency due to muscle weakness"} {"id":"HP:0002748","name":"Rickets"} {"id":"HP:0002749","name":"Osteomalacia"} {"id":"HP:0002750","name":"Delayed skeletal maturation"} {"id":"HP:0002751","name":"Kyphoscoliosis"} {"id":"HP:0002752","name":"Sparse bone trabeculae"} {"id":"HP:0002753","name":"Thin bony cortex"} {"id":"HP:0002754","name":"Osteomyelitis"} {"id":"HP:0002755","name":"Osteomyelitis due to immunodeficiency"} {"id":"HP:0002756","name":"Pathologic fracture"} {"id":"HP:0002757","name":"Recurrent fractures"} {"id":"HP:0002758","name":"Osteoarthritis"} {"id":"HP:0002761","name":"Generalized joint laxity"} {"id":"HP:0002762","name":"Multiple exostoses"} {"id":"HP:0002763","name":"Abnormal cartilage morphology"} {"id":"HP:0002764","name":"Stippled chondral calcification"} {"id":"HP:0002766","name":"Relatively short spine"} {"id":"HP:0002777","name":"Tracheal stenosis"} {"id":"HP:0002778","name":"Abnormality of the trachea"} {"id":"HP:0002779","name":"Tracheomalacia"} {"id":"HP:0002780","name":"Bronchomalacia"} {"id":"HP:0002781","name":"Upper airway obstruction"} {"id":"HP:0002783","name":"Recurrent lower respiratory tract infections"} {"id":"HP:0002786","name":"Tracheobronchomalacia"} {"id":"HP:0002787","name":"Tracheal calcification"} {"id":"HP:0002788","name":"Recurrent upper respiratory tract infections"} {"id":"HP:0002789","name":"Tachypnea"} {"id":"HP:0002790","name":"Neonatal breathing dysregulation"} {"id":"HP:0002791","name":"Hypoventilation"} {"id":"HP:0002792","name":"Reduced vital capacity"} {"id":"HP:0002793","name":"Abnormal pattern of respiration"} {"id":"HP:0002795","name":"Functional respiratory abnormality"} {"id":"HP:0002797","name":"Osteolysis"} {"id":"HP:0002803","name":"Congenital contracture"} {"id":"HP:0002804","name":"Arthrogryposis multiplex congenita"} {"id":"HP:0002805","name":"Accelerated bone age after puberty"} {"id":"HP:0002808","name":"Kyphosis"} {"id":"HP:0002810","name":"Dumbbell-shaped metaphyses"} {"id":"HP:0002812","name":"Coxa vara"} {"id":"HP:0002813","name":"Abnormality of limb bone morphology"} {"id":"HP:0002814","name":"Abnormality of the lower limb"} {"id":"HP:0002815","name":"Abnormality of the knees"} {"id":"HP:0002816","name":"Genu recurvatum"} {"id":"HP:0002817","name":"Abnormality of the upper limb"} {"id":"HP:0002818","name":"Abnormality of the radius"} {"id":"HP:0002821","name":"Neuropathic arthropathy"} {"id":"HP:0002822","name":"Hyperplasia of the femoral trochanters"} {"id":"HP:0002823","name":"Abnormality of the femur"} {"id":"HP:0002825","name":"Caudal appendage"} {"id":"HP:0002826","name":"Halberd-shaped pelvis"} {"id":"HP:0002827","name":"Hip dislocation"} {"id":"HP:0002828","name":"Multiple joint contractures"} {"id":"HP:0002829","name":"Arthralgia"} {"id":"HP:0002831","name":"Long coccyx"} {"id":"HP:0002832","name":"Calcific stippling"} {"id":"HP:0002833","name":"Cystic angiomatosis of bone"} {"id":"HP:0002834","name":"Flared femoral metaphysis"} {"id":"HP:0002835","name":"Aspiration"} {"id":"HP:0002836","name":"Bladder exstrophy"} {"id":"HP:0002837","name":"Recurrent bronchitis"} {"id":"HP:0002839","name":"Urinary bladder sphincter dysfunction"} {"id":"HP:0002840","name":"Lymphadenitis"} {"id":"HP:0002841","name":"Recurrent fungal infections"} {"id":"HP:0002842","name":"Recurrent Burkholderia cepacia infections"} {"id":"HP:0002843","name":"Abnormality of T cells"} {"id":"HP:0002845","name":"Increased number of peripheral CD3+ T cells"} {"id":"HP:0002846","name":"Abnormality of B cells"} {"id":"HP:0002847","name":"Impaired memory B-cell generation"} {"id":"HP:0002848","name":"Specific anti-polysaccharide antibody deficiency"} {"id":"HP:0002849","name":"Absence of lymph node germinal center"} {"id":"HP:0002850","name":"IgM deficiency"} {"id":"HP:0002851","name":"Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors"} {"id":"HP:0002853","name":"Increased proportion of HLA DR+ and CD57+ T cells"} {"id":"HP:0002857","name":"Genu valgum"} {"id":"HP:0002858","name":"Meningioma"} {"id":"HP:0002859","name":"Rhabdomyosarcoma"} {"id":"HP:0002860","name":"Squamous cell carcinoma"} {"id":"HP:0002861","name":"Melanoma"} {"id":"HP:0002862","name":"Bladder carcinoma"} {"id":"HP:0002863","name":"Myelodysplasia"} {"id":"HP:0002864","name":"Paraganglioma of head and neck"} {"id":"HP:0002865","name":"Medullary thyroid carcinoma"} {"id":"HP:0002866","name":"Hypoplastic iliac wing"} {"id":"HP:0002867","name":"Abnormality of the ilium"} {"id":"HP:0002868","name":"Narrow iliac wings"} {"id":"HP:0002869","name":"Flared iliac wings"} {"id":"HP:0002870","name":"Obstructive sleep apnea"} {"id":"HP:0002871","name":"Central apnea"} {"id":"HP:0002872","name":"Apneic episodes precipitated by illness, fatigue, stress"} {"id":"HP:0002875","name":"Exertional dyspnea"} {"id":"HP:0002876","name":"Episodic tachypnea"} {"id":"HP:0002877","name":"Nocturnal hypoventilation"} {"id":"HP:0002878","name":"Respiratory failure"} {"id":"HP:0002879","name":"Anisospondyly"} {"id":"HP:0002880","name":"Respiratory difficulties"} {"id":"HP:0002882","name":"Sudden episodic apnea"} {"id":"HP:0002883","name":"Hyperventilation"} {"id":"HP:0002884","name":"Hepatoblastoma"} {"id":"HP:0002885","name":"Medulloblastoma"} {"id":"HP:0002886","name":"Vagal paraganglioma"} {"id":"HP:0002888","name":"Ependymoma"} {"id":"HP:0002890","name":"Thyroid carcinoma"} {"id":"HP:0002891","name":"Uterine leiomyosarcoma"} {"id":"HP:0002893","name":"Pituitary adenoma"} {"id":"HP:0002894","name":"Neoplasm of the pancreas"} {"id":"HP:0002895","name":"Papillary thyroid carcinoma"} {"id":"HP:0002896","name":"Neoplasm of the liver"} {"id":"HP:0002897","name":"Parathyroid adenoma"} {"id":"HP:0002898","name":"Embryonal neoplasm"} {"id":"HP:0002900","name":"Hypokalemia"} {"id":"HP:0002901","name":"Hypocalcemia"} {"id":"HP:0002902","name":"Hyponatremia"} {"id":"HP:0002904","name":"Hyperbilirubinemia"} {"id":"HP:0002905","name":"Hyperphosphatemia"} {"id":"HP:0002907","name":"Microscopic hematuria"} {"id":"HP:0002908","name":"Conjugated hyperbilirubinemia"} {"id":"HP:0002909","name":"Generalized aminoaciduria"} {"id":"HP:0002910","name":"Elevated hepatic transaminases"} {"id":"HP:0002912","name":"Methylmalonic acidemia"} {"id":"HP:0002913","name":"Myoglobinuria"} {"id":"HP:0002914","name":"Hyperchloridura"} {"id":"HP:0002916","name":"Abnormality of chromosome segregation"} {"id":"HP:0002917","name":"Hypomagnesemia"} {"id":"HP:0002918","name":"Hypermagnesemia"} {"id":"HP:0002919","name":"Ketonuria"} {"id":"HP:0002920","name":"Decreased circulating ACTH level"} {"id":"HP:0002921","name":"Abnormality of the cerebrospinal fluid"} {"id":"HP:0002922","name":"Increased CSF protein"} {"id":"HP:0002923","name":"Rheumatoid factor positive"} {"id":"HP:0002924","name":"Decreased circulating aldosterone level"} {"id":"HP:0002925","name":"Thyroid-stimulating hormone excess"} {"id":"HP:0002926","name":"Abnormality of thyroid physiology"} {"id":"HP:0002927","name":"Histidinuria"} {"id":"HP:0002928","name":"Decreased activity of the pyruvate dehydrogenase (PDH) complex"} {"id":"HP:0002929","name":"Leydig cell insensitivity to gonadotropin"} {"id":"HP:0002930","name":"Thyroid hormone receptor defect"} {"id":"HP:0002932","name":"Aldehyde oxidase deficiency"} {"id":"HP:0002933","name":"Ventral hernia"} {"id":"HP:0002936","name":"Distal sensory impairment"} {"id":"HP:0002937","name":"Hemivertebrae"} {"id":"HP:0002938","name":"Lumbar hyperlordosis"} {"id":"HP:0002942","name":"Thoracic kyphosis"} {"id":"HP:0002943","name":"Thoracic scoliosis"} {"id":"HP:0002944","name":"Thoracolumbar scoliosis"} {"id":"HP:0002945","name":"Intervertebral space narrowing"} {"id":"HP:0002946","name":"Supernumerary vertebrae"} {"id":"HP:0002947","name":"Cervical kyphosis"} {"id":"HP:0002948","name":"Vertebral fusion"} {"id":"HP:0002949","name":"Fused cervical vertebrae"} {"id":"HP:0002951","name":"Partial absence of cerebellar vermis"} {"id":"HP:0002953","name":"Vertebral compression fractures"} {"id":"HP:0002955","name":"Granulomatosis"} {"id":"HP:0002958","name":"Immune dysregulation"} {"id":"HP:0002959","name":"Impaired Ig class switch recombination"} {"id":"HP:0002960","name":"Autoimmunity"} {"id":"HP:0002961","name":"Dysgammaglobulinemia"} {"id":"HP:0002963","name":"Abnormal delayed hypersensitivity skin test"} {"id":"HP:0002965","name":"Cutaneous anergy"} {"id":"HP:0002967","name":"Cubitus valgus"} {"id":"HP:0002970","name":"Genu varum"} {"id":"HP:0002971","name":"Absent microvilli on the surface of peripheral blood lymphocytes"} {"id":"HP:0002972","name":"Reduced delayed hypersensitivity"} {"id":"HP:0002973","name":"Abnormality of the forearm"} {"id":"HP:0002974","name":"Radioulnar synostosis"} {"id":"HP:0002977","name":"Aplasia/Hypoplasia involving the central nervous system"} {"id":"HP:0002979","name":"Bowing of the legs"} {"id":"HP:0002980","name":"Femoral bowing"} {"id":"HP:0002981","name":"Abnormality of the calf"} {"id":"HP:0002982","name":"Tibial bowing"} {"id":"HP:0002983","name":"Micromelia"} {"id":"HP:0002984","name":"Hypoplasia of the radius"} {"id":"HP:0002986","name":"Radial bowing"} {"id":"HP:0002987","name":"Elbow flexion contracture"} {"id":"HP:0002990","name":"Fibular aplasia"} {"id":"HP:0002991","name":"Abnormality of the fibula"} {"id":"HP:0002992","name":"Abnormality of the tibia"} {"id":"HP:0002996","name":"Limited elbow movement"} {"id":"HP:0002997","name":"Abnormality of the ulna"} {"id":"HP:0002999","name":"Patellar dislocation"} {"id":"HP:0003001","name":"Glomus jugular tumor"} {"id":"HP:0003002","name":"Breast carcinoma"} {"id":"HP:0003003","name":"Colon cancer"} {"id":"HP:0003005","name":"Ganglioneuroma"} {"id":"HP:0003006","name":"Neuroblastoma"} {"id":"HP:0003009","name":"Enhanced neurotoxicity of vincristine"} {"id":"HP:0003010","name":"Prolonged bleeding time"} {"id":"HP:0003011","name":"Abnormality of the musculature"} {"id":"HP:0003013","name":"Bulging epiphyses"} {"id":"HP:0003015","name":"Flared metaphysis"} {"id":"HP:0003016","name":"Metaphyseal widening"} {"id":"HP:0003019","name":"Abnormality of the wrist"} {"id":"HP:0003020","name":"Enlargement of the wrists"} {"id":"HP:0003021","name":"Metaphyseal cupping"} {"id":"HP:0003022","name":"Hypoplasia of the ulna"} {"id":"HP:0003023","name":"Bowing of limbs due to multiple fractures"} {"id":"HP:0003025","name":"Metaphyseal irregularity"} {"id":"HP:0003026","name":"Short long bone"} {"id":"HP:0003027","name":"Mesomelia"} {"id":"HP:0003028","name":"Abnormality of the ankles"} {"id":"HP:0003029","name":"Enlargement of the ankles"} {"id":"HP:0003031","name":"Ulnar bowing"} {"id":"HP:0003034","name":"Diaphyseal sclerosis"} {"id":"HP:0003037","name":"Enlarged joints"} {"id":"HP:0003038","name":"Fibular hypoplasia"} {"id":"HP:0003040","name":"Arthropathy"} {"id":"HP:0003041","name":"Humeroradial synostosis"} {"id":"HP:0003042","name":"Elbow dislocation"} {"id":"HP:0003043","name":"Abnormality of the shoulder"} {"id":"HP:0003044","name":"Shoulder flexion contracture"} {"id":"HP:0003045","name":"Abnormality of the patella"} {"id":"HP:0003048","name":"Radial head subluxation"} {"id":"HP:0003049","name":"Ulnar deviation of the wrist"} {"id":"HP:0003051","name":"Enlarged metaphyses"} {"id":"HP:0003053","name":"Epiphyseal deformities of tubular bones"} {"id":"HP:0003057","name":"Tetraamelia"} {"id":"HP:0003059","name":"Abnormality of the radioulnar joints"} {"id":"HP:0003063","name":"Abnormality of the humerus"} {"id":"HP:0003065","name":"Patellar hypoplasia"} {"id":"HP:0003066","name":"Limited knee extension"} {"id":"HP:0003067","name":"Madelung deformity"} {"id":"HP:0003068","name":"Madelung-like forearm deformities"} {"id":"HP:0003070","name":"Elbow ankylosis"} {"id":"HP:0003071","name":"Flattened epiphysis"} {"id":"HP:0003072","name":"Hypercalcemia"} {"id":"HP:0003073","name":"Hypoalbuminemia"} {"id":"HP:0003074","name":"Hyperglycemia"} {"id":"HP:0003075","name":"Hypoproteinemia"} {"id":"HP:0003076","name":"Glycosuria"} {"id":"HP:0003077","name":"Hyperlipidemia"} {"id":"HP:0003079","name":"Defective DNA repair after ultraviolet radiation damage"} {"id":"HP:0003080","name":"Hydroxyprolinuria"} {"id":"HP:0003081","name":"Increased urinary potassium"} {"id":"HP:0003083","name":"Dislocated radial head"} {"id":"HP:0003084","name":"Fractures of the long bones"} {"id":"HP:0003085","name":"Long fibula"} {"id":"HP:0003086","name":"Acromesomelia"} {"id":"HP:0003088","name":"Premature osteoarthritis"} {"id":"HP:0003089","name":"Hamstring contractures"} {"id":"HP:0003090","name":"Hypoplasia of the capital femoral epiphysis"} {"id":"HP:0003091","name":"Trophic limb changes"} {"id":"HP:0003093","name":"Limited hip extension"} {"id":"HP:0003095","name":"Septic arthritis"} {"id":"HP:0003097","name":"Short femur"} {"id":"HP:0003099","name":"Fibular overgrowth"} {"id":"HP:0003100","name":"Slender long bone"} {"id":"HP:0003102","name":"Increased carrying angle"} {"id":"HP:0003103","name":"Abnormal cortical bone morphology"} {"id":"HP:0003105","name":"Protuberances at ends of long bones"} {"id":"HP:0003106","name":"Subperiosteal erosions due to secondary hyperparathyroidism"} {"id":"HP:0003107","name":"Abnormality of cholesterol metabolism"} {"id":"HP:0003108","name":"Hyperglycinuria"} {"id":"HP:0003109","name":"Hyperphosphaturia"} {"id":"HP:0003110","name":"Abnormality of urine homeostasis"} {"id":"HP:0003111","name":"Abnormality of ion homeostasis"} {"id":"HP:0003112","name":"Abnormality of serum amino acid levels"} {"id":"HP:0003113","name":"Hypochloremia"} {"id":"HP:0003115","name":"Abnormal EKG"} {"id":"HP:0003116","name":"Abnormal echocardiogram"} {"id":"HP:0003117","name":"Abnormality of circulating hormone level"} {"id":"HP:0003118","name":"Increased circulating cortisol level"} {"id":"HP:0003119","name":"Abnormality of lipid metabolism"} {"id":"HP:0003121","name":"Limb joint contracture"} {"id":"HP:0003124","name":"Hypercholesterolemia"} {"id":"HP:0003125","name":"Reduced factor VIII activity"} {"id":"HP:0003126","name":"Low-molecular-weight proteinuria"} {"id":"HP:0003127","name":"Hypocalciuria"} {"id":"HP:0003128","name":"Lactic acidosis"} {"id":"HP:0003130","name":"Abnormal peripheral myelination"} {"id":"HP:0003131","name":"Cystinuria"} {"id":"HP:0003133","name":"Abnormality of the spinocerebellar tracts"} {"id":"HP:0003134","name":"Abnormality of peripheral nerve conduction"} {"id":"HP:0003137","name":"Prolinuria"} {"id":"HP:0003138","name":"Increased blood urea nitrogen (BUN)"} {"id":"HP:0003139","name":"Panhypogammaglobulinemia"} {"id":"HP:0003140","name":"T-wave inversion in the right precordial leads"} {"id":"HP:0003141","name":"Hyperbetalipoproteinemia"} {"id":"HP:0003142","name":"Excessive purine production"} {"id":"HP:0003144","name":"Increased serum serotonin"} {"id":"HP:0003145","name":"Decreased adenosylcobalamin"} {"id":"HP:0003146","name":"Hypocholesterolemia"} {"id":"HP:0003148","name":"Elevated serum acid phosphatase"} {"id":"HP:0003149","name":"Hyperuricosuria"} {"id":"HP:0003150","name":"Glutaric aciduria"} {"id":"HP:0003152","name":"Increased serum 1,25-dihydroxyvitamin D3"} {"id":"HP:0003153","name":"Cystathioninuria"} {"id":"HP:0003154","name":"Increased circulating ACTH level"} {"id":"HP:0003155","name":"Elevated alkaline phosphatase"} {"id":"HP:0003158","name":"Hyposthenuria"} {"id":"HP:0003159","name":"Hyperoxaluria"} {"id":"HP:0003160","name":"Abnormal isoelectric focusing of serum transferrin"} {"id":"HP:0003161","name":"4-Hydroxyphenylpyruvic aciduria"} {"id":"HP:0003162","name":"Fasting hypoglycemia"} {"id":"HP:0003163","name":"Elevated urinary delta-aminolevulinic acid"} {"id":"HP:0003164","name":"Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency"} {"id":"HP:0003165","name":"Elevated circulating parathyroid hormone (PTH) level"} {"id":"HP:0003166","name":"Increased urinary taurine"} {"id":"HP:0003167","name":"Carnosinuria"} {"id":"HP:0003168","name":"Dibasicaminoaciduria"} {"id":"HP:0003170","name":"Abnormality of the acetabulum"} {"id":"HP:0003172","name":"Abnormality of the pubic bone"} {"id":"HP:0003173","name":"Hypoplastic pubic bone"} {"id":"HP:0003174","name":"Abnormality of the ischium"} {"id":"HP:0003175","name":"Hypoplastic ischia"} {"id":"HP:0003177","name":"Squared iliac bones"} {"id":"HP:0003179","name":"Protrusio acetabuli"} {"id":"HP:0003180","name":"Flat acetabular roof"} {"id":"HP:0003182","name":"Shallow acetabular fossae"} {"id":"HP:0003183","name":"Wide pubic symphysis"} {"id":"HP:0003184","name":"Decreased hip abduction"} {"id":"HP:0003185","name":"Short sacroiliac notch"} {"id":"HP:0003186","name":"Inverted nipples"} {"id":"HP:0003187","name":"Breast hypoplasia"} {"id":"HP:0003189","name":"Long nose"} {"id":"HP:0003191","name":"Cleft ala nasi"} {"id":"HP:0003193","name":"Allergic rhinitis"} {"id":"HP:0003194","name":"Short nasal bridge"} {"id":"HP:0003196","name":"Short nose"} {"id":"HP:0003198","name":"Myopathy"} {"id":"HP:0003199","name":"Decreased muscle mass"} {"id":"HP:0003200","name":"Ragged-red muscle fibers"} {"id":"HP:0003201","name":"Rhabdomyolysis"} {"id":"HP:0003202","name":"Skeletal muscle atrophy"} {"id":"HP:0003203","name":"Negative nitroblue tetrazolium (NBT) reduction test"} {"id":"HP:0003204","name":"Intracellular accumulation of autofluorescent lipopigment storage material"} {"id":"HP:0003205","name":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material"} {"id":"HP:0003206","name":"Decreased activity of NADPH oxidase"} {"id":"HP:0003207","name":"Arterial calcification"} {"id":"HP:0003208","name":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material"} {"id":"HP:0003209","name":"Decreased pyruvate carboxylase activity"} {"id":"HP:0003210","name":"Decreased methylmalonyl-CoA mutase activity"} {"id":"HP:0003212","name":"Increased IgE level"} {"id":"HP:0003213","name":"Deficient excision of UV-induced pyrimidine dimers in DNA"} {"id":"HP:0003214","name":"Prolonged G2 phase of cell cycle"} {"id":"HP:0003215","name":"Dicarboxylic aciduria"} {"id":"HP:0003216","name":"Generalized amyloid deposition"} {"id":"HP:0003217","name":"Hyperglutaminemia"} {"id":"HP:0003218","name":"Oroticaciduria"} {"id":"HP:0003219","name":"Ethylmalonic aciduria"} {"id":"HP:0003220","name":"Abnormality of chromosome stability"} {"id":"HP:0003221","name":"Chromosomal breakage induced by crosslinking agents"} {"id":"HP:0003223","name":"Decreased methylcobalamin"} {"id":"HP:0003224","name":"Increased cellular sensitivity to UV light"} {"id":"HP:0003225","name":"Reduced factor V activity"} {"id":"HP:0003226","name":"Rectilinear intracellular accumulation of autofluorescent lipopigment storage material"} {"id":"HP:0003228","name":"Hypernatremia"} {"id":"HP:0003231","name":"Hypertyrosinemia"} {"id":"HP:0003232","name":"Mitochondrial malic enzyme reduced"} {"id":"HP:0003233","name":"Hypoalphalipoproteinemia"} {"id":"HP:0003234","name":"Decreased plasma carnitine"} {"id":"HP:0003235","name":"Hypermethioninemia"} {"id":"HP:0003236","name":"Elevated serum creatine phosphokinase"} {"id":"HP:0003237","name":"Increased IgG level"} {"id":"HP:0003238","name":"Hyperpepsinogenemia I"} {"id":"HP:0003239","name":"Phosphoethanolaminuria"} {"id":"HP:0003240","name":"Increased phosphoribosylpyrophosphate (PRPP) synthetase"} {"id":"HP:0003241","name":"External genital hypoplasia"} {"id":"HP:0003244","name":"Penile hypospadias"} {"id":"HP:0003246","name":"Prominent scrotal raphe"} {"id":"HP:0003247","name":"Overgrowth of external genitalia"} {"id":"HP:0003248","name":"Gonadal tissue inappropriate for external genitalia or chromosomal sex"} {"id":"HP:0003249","name":"Genital ulcers"} {"id":"HP:0003250","name":"Aplasia of the vagina"} {"id":"HP:0003251","name":"Male infertility"} {"id":"HP:0003252","name":"Anteriorly displaced genitalia"} {"id":"HP:0003254","name":"Abnormality of DNA repair"} {"id":"HP:0003256","name":"Abnormality of the coagulation cascade"} {"id":"HP:0003258","name":"Glyoxalase deficiency"} {"id":"HP:0003259","name":"Elevated serum creatinine"} {"id":"HP:0003260","name":"Hydroxyprolinemia"} {"id":"HP:0003261","name":"Increased IgA level"} {"id":"HP:0003262","name":"Smooth muscle antibody positivity"} {"id":"HP:0003264","name":"Deficiency of N-acetylglucosamine-1-phosphotransferase"} {"id":"HP:0003265","name":"Neonatal hyperbilirubinemia"} {"id":"HP:0003267","name":"Reduced orotidine 5-prime phosphate decarboxylase activity"} {"id":"HP:0003268","name":"Argininuria"} {"id":"HP:0003269","name":"Sudanophilic leukodystrophy"} {"id":"HP:0003270","name":"Abdominal distention"} {"id":"HP:0003271","name":"Visceromegaly"} {"id":"HP:0003272","name":"Abnormality of the hip bone"} {"id":"HP:0003273","name":"Hip contracture"} {"id":"HP:0003274","name":"Hypoplastic acetabulae"} {"id":"HP:0003275","name":"Narrow pelvis"} {"id":"HP:0003276","name":"Pelvic exostoses"} {"id":"HP:0003277","name":"Constricted iliac wings"} {"id":"HP:0003278","name":"Square pelvis"} {"id":"HP:0003279","name":"Coxa magna"} {"id":"HP:0003281","name":"Increased serum ferritin"} {"id":"HP:0003282","name":"Low alkaline phosphatase"} {"id":"HP:0003286","name":"Cystathioninemia"} {"id":"HP:0003287","name":"Abnormality of mitochondrial metabolism"} {"id":"HP:0003288","name":"Mitochondrial propionyl-CoA carboxylase (PCC) defect"} {"id":"HP:0003292","name":"Decreased serum leptin"} {"id":"HP:0003295","name":"Impaired FSH and LH secretion"} {"id":"HP:0003296","name":"Hyperthreoninuria"} {"id":"HP:0003297","name":"Hyperlysinuria"} {"id":"HP:0003298","name":"Spina bifida occulta"} {"id":"HP:0003300","name":"Ovoid vertebral bodies"} {"id":"HP:0003301","name":"Irregular vertebral endplates"} {"id":"HP:0003302","name":"Spondylolisthesis"} {"id":"HP:0003304","name":"Spondylolysis"} {"id":"HP:0003305","name":"Block vertebrae"} {"id":"HP:0003306","name":"Spinal rigidity"} {"id":"HP:0003307","name":"Hyperlordosis"} {"id":"HP:0003308","name":"Cervical subluxation"} {"id":"HP:0003309","name":"Ovoid thoracolumbar vertebrae"} {"id":"HP:0003310","name":"Abnormality of the odontoid process"} {"id":"HP:0003311","name":"Hypoplasia of the odontoid process"} {"id":"HP:0003312","name":"Abnormal form of the vertebral bodies"} {"id":"HP:0003316","name":"Butterfly vertebrae"} {"id":"HP:0003318","name":"Cervical spine hypermobility"} {"id":"HP:0003319","name":"Abnormality of the cervical spine"} {"id":"HP:0003320","name":"C1-C2 subluxation"} {"id":"HP:0003321","name":"Biconcave flattened vertebrae"} {"id":"HP:0003323","name":"Progressive muscle weakness"} {"id":"HP:0003324","name":"Generalized muscle weakness"} {"id":"HP:0003325","name":"Limb-girdle muscle weakness"} {"id":"HP:0003326","name":"Myalgia"} {"id":"HP:0003327","name":"Axial muscle weakness"} {"id":"HP:0003328","name":"Abnormal hair laboratory examination"} {"id":"HP:0003329","name":"Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes"} {"id":"HP:0003330","name":"Abnormal bone structure"} {"id":"HP:0003332","name":"Absent primary metaphyseal spongiosa"} {"id":"HP:0003333","name":"Increased serum beta-hexosaminidase"} {"id":"HP:0003334","name":"Elevated circulating catecholamine level"} {"id":"HP:0003335","name":"Low gonadotropins (secondary hypogonadism)"} {"id":"HP:0003336","name":"Abnormal enchondral ossification"} {"id":"HP:0003337","name":"Reduced prothrombin consumption"} {"id":"HP:0003338","name":"Focal necrosis of right ventricular muscle cells"} {"id":"HP:0003339","name":"Pyrimidine-responsive megaloblastic anemia"} {"id":"HP:0003341","name":"Junctional split"} {"id":"HP:0003343","name":"Glutathione synthetase deficiency"} {"id":"HP:0003344","name":"3-Methylglutaric aciduria"} {"id":"HP:0003345","name":"Elevated urinary norepinephrine"} {"id":"HP:0003347","name":"Impaired lymphocyte transformation with phytohemagglutinin"} {"id":"HP:0003348","name":"Hyperalaninemia"} {"id":"HP:0003349","name":"Low cholesterol esterification rates"} {"id":"HP:0003351","name":"Decreased circulating renin level"} {"id":"HP:0003352","name":"Endopolyploidy on chromosome studies of bone marrow"} {"id":"HP:0003353","name":"Propionyl-CoA carboxylase deficiency"} {"id":"HP:0003354","name":"Hyperthreoninemia"} {"id":"HP:0003355","name":"Aminoaciduria"} {"id":"HP:0003357","name":"Thymic hormone decreased"} {"id":"HP:0003358","name":"Elevated intracellular cystine"} {"id":"HP:0003359","name":"Decreased urinary sulfate"} {"id":"HP:0003361","name":"Tryptophanuria"} {"id":"HP:0003362","name":"Increased circulating very-low-density lipoprotein cholesterol"} {"id":"HP:0003363","name":"Abdominal situs inversus"} {"id":"HP:0003365","name":"Arthralgia of the hip"} {"id":"HP:0003366","name":"Abnormality of the femoral neck or head region"} {"id":"HP:0003367","name":"Abnormality of the femoral neck"} {"id":"HP:0003368","name":"Abnormality of the femoral head"} {"id":"HP:0003370","name":"Flat capital femoral epiphysis"} {"id":"HP:0003371","name":"Enlargement of the proximal femoral epiphysis"} {"id":"HP:0003375","name":"Narrow greater sacrosciatic notches"} {"id":"HP:0003376","name":"Steppage gait"} {"id":"HP:0003378","name":"Axonal degeneration/regeneration"} {"id":"HP:0003380","name":"Decreased number of peripheral myelinated nerve fibers"} {"id":"HP:0003382","name":"Hypertrophic nerve changes"} {"id":"HP:0003383","name":"Onion bulb formation"} {"id":"HP:0003384","name":"Peripheral axonal atrophy"} {"id":"HP:0003387","name":"Decreased number of large peripheral myelinated nerve fibers"} {"id":"HP:0003388","name":"Easy fatigability"} {"id":"HP:0003390","name":"Sensory axonal neuropathy"} {"id":"HP:0003391","name":"Gowers sign"} {"id":"HP:0003392","name":"First dorsal interossei muscle weakness"} {"id":"HP:0003393","name":"Thenar muscle atrophy"} {"id":"HP:0003394","name":"Muscle cramps"} {"id":"HP:0003396","name":"Syringomyelia"} {"id":"HP:0003397","name":"Generalized hypotonia due to defect at the neuromuscular junction"} {"id":"HP:0003398","name":"Abnormal synaptic transmission at the neuromuscular junction"} {"id":"HP:0003400","name":"Basal lamina 'onion bulb' formation"} {"id":"HP:0003401","name":"Paresthesia"} {"id":"HP:0003402","name":"Decreased miniature endplate potentials"} {"id":"HP:0003403","name":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation"} {"id":"HP:0003405","name":"Diffuse axonal swelling"} {"id":"HP:0003406","name":"Peripheral nerve compression"} {"id":"HP:0003409","name":"Distal sensory impairment of all modalities"} {"id":"HP:0003411","name":"Proximal femoral metaphyseal irregularity"} {"id":"HP:0003413","name":"Atlantoaxial abnormality"} {"id":"HP:0003414","name":"Atlantoaxial dislocation"} {"id":"HP:0003416","name":"Spinal canal stenosis"} {"id":"HP:0003417","name":"Coronal cleft vertebrae"} {"id":"HP:0003418","name":"Back pain"} {"id":"HP:0003419","name":"Low back pain"} {"id":"HP:0003421","name":"Platyspondyly (childhood)"} {"id":"HP:0003422","name":"Vertebral segmentation defect"} {"id":"HP:0003423","name":"Thoracolumbar kyphoscoliosis"} {"id":"HP:0003426","name":"First dorsal interossei muscle atrophy"} {"id":"HP:0003427","name":"Thenar muscle weakness"} {"id":"HP:0003429","name":"CNS hypomyelination"} {"id":"HP:0003431","name":"Decreased motor nerve conduction velocity"} {"id":"HP:0003434","name":"Sensory ataxic neuropathy"} {"id":"HP:0003435","name":"Cold-induced hand cramps"} {"id":"HP:0003436","name":"Prolonged miniature endplate currents"} {"id":"HP:0003438","name":"Absent Achilles reflex"} {"id":"HP:0003440","name":"Horizontal sacrum"} {"id":"HP:0003443","name":"Decreased size of nerve terminals"} {"id":"HP:0003444","name":"EMG: chronic denervation signs"} {"id":"HP:0003445","name":"EMG: neuropathic changes"} {"id":"HP:0003447","name":"Axonal loss"} {"id":"HP:0003448","name":"Decreased sensory nerve conduction velocity"} {"id":"HP:0003449","name":"Cold-induced muscle cramps"} {"id":"HP:0003450","name":"Axonal regeneration"} {"id":"HP:0003451","name":"Increased rate of premature chromosome condensation"} {"id":"HP:0003452","name":"Increased serum iron"} {"id":"HP:0003453","name":"Antineutrophil antibody positivity"} {"id":"HP:0003454","name":"Platelet antibody positive"} {"id":"HP:0003455","name":"Elevated long chain fatty acids"} {"id":"HP:0003456","name":"Low urinary cyclic AMP response to PTH administration"} {"id":"HP:0003457","name":"EMG abnormality"} {"id":"HP:0003458","name":"EMG: myopathic abnormalities"} {"id":"HP:0003459","name":"Polyclonal elevation of IgM"} {"id":"HP:0003460","name":"Total immunoglobulin A deficiency"} {"id":"HP:0003461","name":"Increased urinary O-linked sialopeptides"} {"id":"HP:0003462","name":"Elevated 8-dehydrocholesterol"} {"id":"HP:0003463","name":"Increased extraneuronal autofluorescent lipopigment"} {"id":"HP:0003464","name":"Abnormal cholesterol homeostasis"} {"id":"HP:0003465","name":"Elevated 8(9)-cholestenol"} {"id":"HP:0003466","name":"Paradoxical increased cortisol secretion on dexamethasone suppression test"} {"id":"HP:0003467","name":"Atlantoaxial instability"} {"id":"HP:0003468","name":"Abnormality of the vertebrae"} {"id":"HP:0003469","name":"Peripheral dysmyelination"} {"id":"HP:0003470","name":"Paralysis"} {"id":"HP:0003472","name":"Hypocalcemic tetany"} {"id":"HP:0003473","name":"Fatigable weakness"} {"id":"HP:0003474","name":"Sensory impairment"} {"id":"HP:0003477","name":"Peripheral axonal neuropathy"} {"id":"HP:0003481","name":"Segmental peripheral demyelination/remyelination"} {"id":"HP:0003482","name":"EMG: axonal abnormality"} {"id":"HP:0003484","name":"Upper limb muscle weakness"} {"id":"HP:0003487","name":"Babinski sign"} {"id":"HP:0003489","name":"Acute episodes of neuropathic symptoms"} {"id":"HP:0003490","name":"Defective dehydrogenation of isovaleryl CoA and butyryl CoA"} {"id":"HP:0003491","name":"Elevated urine pyrophosphate"} {"id":"HP:0003492","name":"High urinary gonadotropins (primary hypogonadism)"} {"id":"HP:0003493","name":"Antinuclear antibody positivity"} {"id":"HP:0003495","name":"GM2-ganglioside accumulation"} {"id":"HP:0003496","name":"Increased IgM level"} {"id":"HP:0003498","name":"Disproportionate short stature"} {"id":"HP:0003502","name":"Mild short stature"} {"id":"HP:0003508","name":"Proportionate short stature"} {"id":"HP:0003510","name":"Severe short stature"} {"id":"HP:0003513","name":"Reduced ratio of renal calcium clearance to creatinine clearance"} {"id":"HP:0003514","name":"Deficiency or absence of cytochrome b(-245)"} {"id":"HP:0003517","name":"Birth length greater than 97th percentile"} {"id":"HP:0003521","name":"Disproportionate short-trunk short stature"} {"id":"HP:0003524","name":"Decreased methionine synthase activity"} {"id":"HP:0003526","name":"Orotic acid crystalluria"} {"id":"HP:0003527","name":"Hyperprostaglandinuria"} {"id":"HP:0003528","name":"Elevated calcitonin"} {"id":"HP:0003529","name":"Parathormone-independent increased renal tubular calcium reabsorption"} {"id":"HP:0003530","name":"Glutaric acidemia"} {"id":"HP:0003532","name":"Ornithinuria"} {"id":"HP:0003533","name":"Delayed oxidation of acetaldehyde"} {"id":"HP:0003534","name":"Reduced xanthine dehydrogenase activity"} {"id":"HP:0003535","name":"3-Methylglutaconic aciduria"} {"id":"HP:0003536","name":"Decreased fumarate hydratase activity"} {"id":"HP:0003537","name":"Hypouricemia"} {"id":"HP:0003538","name":"Increased serum iduronate sulfatase activity"} {"id":"HP:0003540","name":"Impaired platelet aggregation"} {"id":"HP:0003541","name":"Urinary glycosaminoglycan excretion"} {"id":"HP:0003542","name":"Increased serum pyruvate"} {"id":"HP:0003546","name":"Exercise intolerance"} {"id":"HP:0003547","name":"Shoulder girdle muscle weakness"} {"id":"HP:0003548","name":"Subsarcolemmal accumulations of abnormally shaped mitochondria"} {"id":"HP:0003549","name":"Abnormality of connective tissue"} {"id":"HP:0003550","name":"Predominantly lower limb lymphedema"} {"id":"HP:0003551","name":"Difficulty climbing stairs"} {"id":"HP:0003552","name":"Muscle stiffness"} {"id":"HP:0003553","name":"Cellulitis due to immunodeficiency"} {"id":"HP:0003554","name":"Type 2 muscle fiber atrophy"} {"id":"HP:0003555","name":"Muscle fiber splitting"} {"id":"HP:0003557","name":"Increased variability in muscle fiber diameter"} {"id":"HP:0003558","name":"Viral infection-induced rhabdomyolysis"} {"id":"HP:0003559","name":"Muscle hyperirritability"} {"id":"HP:0003560","name":"Muscular dystrophy"} {"id":"HP:0003561","name":"Birth length less than 3rd percentile"} {"id":"HP:0003562","name":"Abnormal metaphyseal vascular invasion"} {"id":"HP:0003563","name":"Hypobetalipoproteinemia"} {"id":"HP:0003564","name":"Folate-dependent fragile site at Xq28"} {"id":"HP:0003565","name":"Elevated erythrocyte sedimentation rate"} {"id":"HP:0003566","name":"Increased serum prostaglandin E2"} {"id":"HP:0003568","name":"Decreased glucosephosphate isomerase activity"} {"id":"HP:0003570","name":"Molybdenum cofactor deficiency"} {"id":"HP:0003571","name":"Propionicacidemia"} {"id":"HP:0003572","name":"Low plasma citrulline"} {"id":"HP:0003573","name":"Increased total bilirubin"} {"id":"HP:0003574","name":"Positive regitine blocking test"} {"id":"HP:0003575","name":"Increased intracellular sodium"} {"id":"HP:0003606","name":"Absent urinary urothione"} {"id":"HP:0003607","name":"4-Hydroxyphenylacetic aciduria"} {"id":"HP:0003609","name":"Foam cells with lamellar inclusion bodies"} {"id":"HP:0003610","name":"Fibroblast metachromasia"} {"id":"HP:0003612","name":"Positive ferric chloride test"} {"id":"HP:0003613","name":"Antiphospholipid antibody positivity"} {"id":"HP:0003614","name":"Trimethylaminuria"} {"id":"HP:0003616","name":"Premature separation of centromeric heterochromatin"} {"id":"HP:0003634","name":"Amyoplasia"} {"id":"HP:0003635","name":"Loss of subcutaneous adipose tissue in limbs"} {"id":"HP:0003637","name":"Reduced 4-Hydroxyphenylpyruvate dioxygenase activity"} {"id":"HP:0003639","name":"Elevated urinary epinephrine"} {"id":"HP:0003640","name":"Foam cells in visceral organs and CNS"} {"id":"HP:0003641","name":"Hemoglobinuria"} {"id":"HP:0003642","name":"Type I transferrin isoform profile"} {"id":"HP:0003643","name":"Sulfite oxidase deficiency"} {"id":"HP:0003645","name":"Prolonged partial thromboplastin time"} {"id":"HP:0003646","name":"Bicarbonaturia"} {"id":"HP:0003647","name":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect"} {"id":"HP:0003648","name":"Lacticaciduria"} {"id":"HP:0003649","name":"Abnormality of glycoside metabolism"} {"id":"HP:0003651","name":"Foam cells"} {"id":"HP:0003652","name":"Recurrent myoglobinuria"} {"id":"HP:0003653","name":"Cellular metachromasia"} {"id":"HP:0003654","name":"Reduced dihydropyrimidine dehydrogenase activity"} {"id":"HP:0003655","name":"Reduced activity of N-acetylglucosaminyltransferase II"} {"id":"HP:0003656","name":"Decreased beta-glucocerebrosidase protein and activity"} {"id":"HP:0003657","name":"Granular osmiophilic deposits (GROD) in cells"} {"id":"HP:0003658","name":"Hypomethioninemia"} {"id":"HP:0003665","name":"Amyotrophy of the musculature of the pelvis"} {"id":"HP:0003683","name":"Large beaked nose"} {"id":"HP:0003687","name":"Centrally nucleated skeletal muscle fibers"} {"id":"HP:0003688","name":"Decreased activity of cytochrome C oxidase in muscle tissue"} {"id":"HP:0003689","name":"Multiple mitochondrial DNA deletions"} {"id":"HP:0003690","name":"Limb muscle weakness"} {"id":"HP:0003691","name":"Scapular winging"} {"id":"HP:0003693","name":"Distal amyotrophy"} {"id":"HP:0003694","name":"Late-onset proximal muscle weakness"} {"id":"HP:0003696","name":"Absent epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0003697","name":"Scapuloperoneal amyotrophy"} {"id":"HP:0003698","name":"Difficulty standing"} {"id":"HP:0003700","name":"Generalized amyotrophy"} {"id":"HP:0003701","name":"Proximal muscle weakness"} {"id":"HP:0003704","name":"Scapuloperoneal weakness"} {"id":"HP:0003707","name":"Calf muscle pseudohypertrophy"} {"id":"HP:0003710","name":"Exercise-induced muscle cramps"} {"id":"HP:0003712","name":"Skeletal muscle hypertrophy"} {"id":"HP:0003713","name":"Muscle fiber necrosis"} {"id":"HP:0003715","name":"Myofibrillar myopathy"} {"id":"HP:0003716","name":"Generalized muscular appearance from birth"} {"id":"HP:0003717","name":"Minimal subcutaneous fat"} {"id":"HP:0003719","name":"Muscle mounding"} {"id":"HP:0003720","name":"Generalized muscle hypertrophy"} {"id":"HP:0003722","name":"Neck flexor weakness"} {"id":"HP:0003724","name":"Shoulder girdle muscle atrophy"} {"id":"HP:0003725","name":"Firm muscles"} {"id":"HP:0003729","name":"Enteroviral dermatomyositis syndrome"} {"id":"HP:0003730","name":"EMG: myotonic runs"} {"id":"HP:0003731","name":"Quadriceps muscle weakness"} {"id":"HP:0003733","name":"Thigh hypertrophy"} {"id":"HP:0003736","name":"Autophagic vacuoles"} {"id":"HP:0003737","name":"Mitochondrial myopathy"} {"id":"HP:0003738","name":"Exercise-induced myalgia"} {"id":"HP:0003739","name":"Myoclonic spasms"} {"id":"HP:0003740","name":"Myotonia with warm-up phenomenon"} {"id":"HP:0003741","name":"Congenital muscular dystrophy"} {"id":"HP:0003749","name":"Pelvic girdle muscle weakness"} {"id":"HP:0003750","name":"Increased muscle fatiguability"} {"id":"HP:0003752","name":"Episodic flaccid weakness"} {"id":"HP:0003755","name":"Type 1 fibers relatively smaller than type 2 fibers"} {"id":"HP:0003756","name":"Skeletal myopathy"} {"id":"HP:0003758","name":"Reduced subcutaneous adipose tissue"} {"id":"HP:0003759","name":"Hypoplasia of lymphatic vessels"} {"id":"HP:0003760","name":"Percussion-induced rapid rolling muscle contractions (PIRC)"} {"id":"HP:0003761","name":"Calcinosis"} {"id":"HP:0003762","name":"Uterus didelphys"} {"id":"HP:0003763","name":"Bruxism"} {"id":"HP:0003764","name":"Nevus"} {"id":"HP:0003765","name":"Psoriasis"} {"id":"HP:0003768","name":"Periodic paralysis"} {"id":"HP:0003771","name":"Pulp stones"} {"id":"HP:0003774","name":"Stage 5 chronic kidney disease"} {"id":"HP:0003777","name":"Pili torti"} {"id":"HP:0003778","name":"Short mandibular rami"} {"id":"HP:0003779","name":"Antegonial notching of mandible"} {"id":"HP:0003781","name":"Excessive salivation"} {"id":"HP:0003782","name":"Eunuchoid habitus"} {"id":"HP:0003783","name":"Externally rotated/abducted legs"} {"id":"HP:0003784","name":"Type 1 collagen overmodification"} {"id":"HP:0003785","name":"Decreased CSF homovanillic acid (HVA)"} {"id":"HP:0003787","name":"Type 1 and type 2 muscle fiber minicore regions"} {"id":"HP:0003789","name":"Minicore (multicore) myopathy"} {"id":"HP:0003791","name":"Deposits immunoreactive to beta-amyloid protein"} {"id":"HP:0003795","name":"Short middle phalanx of toe"} {"id":"HP:0003796","name":"Irregular iliac crest"} {"id":"HP:0003797","name":"Limb-girdle muscle atrophy"} {"id":"HP:0003798","name":"Nemaline bodies"} {"id":"HP:0003799","name":"Marked delay in bone age"} {"id":"HP:0003800","name":"Muscle abnormality related to mitochondrial dysfunction"} {"id":"HP:0003803","name":"Type 1 muscle fiber predominance"} {"id":"HP:0003805","name":"Rimmed vacuoles"} {"id":"HP:0003808","name":"Abnormal muscle tone"} {"id":"HP:0003809","name":"Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)"} {"id":"HP:0003810","name":"Late-onset distal muscle weakness"} {"id":"HP:0003832","name":"Abnormality of the tibial plateaux"} {"id":"HP:0003833","name":"Laterally deficient tibial plateaux"} {"id":"HP:0003834","name":"Shoulder dislocation"} {"id":"HP:0003835","name":"Shoulder subluxation"} {"id":"HP:0003836","name":"Stippled calcification of the shoulder"} {"id":"HP:0003837","name":"Soft-tissue ossification around the shoulders"} {"id":"HP:0003839","name":"Abnormality of upper limb epiphysis morphology"} {"id":"HP:0003840","name":"Delayed upper limb epiphyseal ossification"} {"id":"HP:0003841","name":"Fragmented epiphyses of the upper limbs"} {"id":"HP:0003842","name":"Irregular epiphyses of the upper limbs"} {"id":"HP:0003843","name":"Round epiphyses of the upper limbs"} {"id":"HP:0003844","name":"Small epiphyses of the upper limbs"} {"id":"HP:0003846","name":"Wide epiphyseal plates of the upper limbs"} {"id":"HP:0003848","name":"Cupped metaphyses of the upper limbs"} {"id":"HP:0003849","name":"Flared upper limb metaphysis"} {"id":"HP:0003850","name":"Upper-limb metaphyseal irregularity"} {"id":"HP:0003851","name":"Lytic defects in metaphyses of the upper limbs"} {"id":"HP:0003852","name":"Normal density transverse bands in metaphyses of the upper limbs"} {"id":"HP:0003853","name":"Sclerosis with transverse striations in metaphyses of the upper limbs"} {"id":"HP:0003854","name":"Sclerosis of metaphyses of the upper limbs"} {"id":"HP:0003855","name":"Spurred metaphyses of the upper limbs"} {"id":"HP:0003856","name":"Upper limb metaphyseal widening"} {"id":"HP:0003858","name":"Cortical diaphyseal irregularity of the upper limbs"} {"id":"HP:0003859","name":"Cortical diaphyseal thickening of the upper limbs"} {"id":"HP:0003860","name":"Diaphyseal sclerosis of the upper limbs"} {"id":"HP:0003861","name":"Broad diaphyses of the upper limbs"} {"id":"HP:0003862","name":"Absent humerus"} {"id":"HP:0003863","name":"Angulated humerus"} {"id":"HP:0003864","name":"Bifid humerus"} {"id":"HP:0003865","name":"Bowed humerus"} {"id":"HP:0003866","name":"Coarse trabeculae (humeral)"} {"id":"HP:0003867","name":"Cortical irregularity (humeral)"} {"id":"HP:0003868","name":"Cortical thickening (humeral)"} {"id":"HP:0003869","name":"Cortical thinning (humeral)"} {"id":"HP:0003870","name":"Crumpled humerus"} {"id":"HP:0003871","name":"Deformed humerus"} {"id":"HP:0003872","name":"Exostoses (humeral)"} {"id":"HP:0003874","name":"Humerus varus"} {"id":"HP:0003875","name":"Lytic defects (humeral)"} {"id":"HP:0003876","name":"Osteoporotic humerus"} {"id":"HP:0003877","name":"Oval transradiancy (humeral)"} {"id":"HP:0003878","name":"Periosteal new bone (humeral)"} {"id":"HP:0003879","name":"Pseudarthrosis (humeral)"} {"id":"HP:0003880","name":"Sclerotic foci of the humerus"} {"id":"HP:0003881","name":"Humeral sclerosis"} {"id":"HP:0003882","name":"Slender humerus"} {"id":"HP:0003883","name":"Tapered humerus"} {"id":"HP:0003884","name":"Triangular humerus"} {"id":"HP:0003885","name":"Undermodeled humerus"} {"id":"HP:0003886","name":"Wide humerus"} {"id":"HP:0003887","name":"Abnormality of the humeral heads"} {"id":"HP:0003888","name":"Flattened humeral heads"} {"id":"HP:0003889","name":"Abnormality of the deltoid tuberosities"} {"id":"HP:0003890","name":"Prominent deltoid tuberosities"} {"id":"HP:0003891","name":"Abnormality of the humeral epiphysis"} {"id":"HP:0003892","name":"Absent humeral epiphyseal ossification"} {"id":"HP:0003893","name":"Advanced ossification of the humeral epiphysis"} {"id":"HP:0003894","name":"Delayed humeral epiphyseal ossification"} {"id":"HP:0003895","name":"Flattened humeral epiphyses"} {"id":"HP:0003896","name":"Irregular humeral epiphyses"} {"id":"HP:0003897","name":"Irregular ossification of the humeral epiphyses"} {"id":"HP:0003898","name":"Large humeral epiphyses"} {"id":"HP:0003899","name":"Round humeral epiphyses"} {"id":"HP:0003900","name":"Small humeral epiphyses"} {"id":"HP:0003901","name":"Stippled calcification of the humeral epiphyses"} {"id":"HP:0003902","name":"Epiphyseal stippling of the humerus"} {"id":"HP:0003903","name":"Broad humeral epiphyses"} {"id":"HP:0003904","name":"Wide epiphyses of the upper limbs"} {"id":"HP:0003905","name":"Abnormality of the humeral epiphyseal plate"} {"id":"HP:0003906","name":"Broad humeral epiphyseal plate"} {"id":"HP:0003907","name":"Abnormality of the humeral metaphyses"} {"id":"HP:0003908","name":"Corner spurs (humeral metaphyses)"} {"id":"HP:0003909","name":"Cortical subperiosteal resorption (humeral metaphyses)"} {"id":"HP:0003910","name":"Enlarged humeral metaphyses"} {"id":"HP:0003911","name":"Flared humeral metaphysis"} {"id":"HP:0003912","name":"Frayed humeral metaphyses"} {"id":"HP:0003913","name":"Humeral metaphyseal irregularity"} {"id":"HP:0003914","name":"Irregular ossification of humeral metaphyses"} {"id":"HP:0003915","name":"Lytic defects of the humeral metaphysis"} {"id":"HP:0003916","name":"Normal-density transverse bands (humerus)"} {"id":"HP:0003917","name":"Pointed humeral metaphysis"} {"id":"HP:0003918","name":"Sclerotic humeral metaphysis"} {"id":"HP:0003919","name":"Sclerotic humeral metaphysis with longitudinal striations"} {"id":"HP:0003920","name":"Sloping humeral metaphysis"} {"id":"HP:0003921","name":"Laterally sloping humeral metaphysis"} {"id":"HP:0003922","name":"Spurred humeral metaphysis"} {"id":"HP:0003923","name":"Square humeral metaphysis"} {"id":"HP:0003924","name":"Stippled calcification of humeral metaphysis"} {"id":"HP:0003926","name":"Abnormality of the humeral diaphysis"} {"id":"HP:0003927","name":"Cortical irregularity of humeral diaphysis"} {"id":"HP:0003928","name":"Cortical thickening of humeral diaphysis"} {"id":"HP:0003929","name":"Ground glass opacity of humeral diaphysis"} {"id":"HP:0003930","name":"Lytic defects of humeral diaphysis"} {"id":"HP:0003931","name":"Periosteal new bone (humeral diaphysis)"} {"id":"HP:0003932","name":"Sclerotic foci of humeral diaphysis"} {"id":"HP:0003933","name":"Sclerosis of humeral diaphysis"} {"id":"HP:0003934","name":"Slender humeral diaphysis"} {"id":"HP:0003935","name":"Wide humeral diaphysis"} {"id":"HP:0003938","name":"Synostosis involving the elbow"} {"id":"HP:0003939","name":"Humeroulnar synostosis"} {"id":"HP:0003940","name":"Osteoarthritis of the elbow"} {"id":"HP:0003941","name":"Stippled calcification of the elbow"} {"id":"HP:0003942","name":"Synovial chondromatosis of the elbow"} {"id":"HP:0003943","name":"Abnormality of the joint spaces of the elbow"} {"id":"HP:0003944","name":"Narrow joint spaces of the elbow"} {"id":"HP:0003945","name":"Irregular articular surfaces of the elbow joints"} {"id":"HP:0003946","name":"Abnormality of the epiphyses of the elbow"} {"id":"HP:0003947","name":"Delayed elbow epiphyseal ossification"} {"id":"HP:0003948","name":"Irregular epiphyses of the elbow"} {"id":"HP:0003949","name":"Abnormality of the elbow metaphyses"} {"id":"HP:0003950","name":"Flared metaphyses (elbow)"} {"id":"HP:0003951","name":"Distal humeral metaphyseal irregularity"} {"id":"HP:0003952","name":"Sclerotic foci of metaphyses of the elbow"} {"id":"HP:0003953","name":"Absent forearm bone"} {"id":"HP:0003954","name":"Angulated forearm bones"} {"id":"HP:0003955","name":"Bone-in-a-bone appearance (forearm)"} {"id":"HP:0003956","name":"Bowed forearm bones"} {"id":"HP:0003957","name":"Cortical thickening of the forearm bones"} {"id":"HP:0003958","name":"Cross-fusion of the forearm bones"} {"id":"HP:0003959","name":"Deformed forearm bones"} {"id":"HP:0003960","name":"Exostoses of the forearm bones"} {"id":"HP:0003961","name":"Fractured forearm bones"} {"id":"HP:0003963","name":"Lytic defects of the forearm bones"} {"id":"HP:0003964","name":"Osteoporotic forearm bones"} {"id":"HP:0003965","name":"Pseudarthrosis of the forearm bones"} {"id":"HP:0003966","name":"Sclerotic foci in forearm bones"} {"id":"HP:0003967","name":"Sclerotic forearm bones"} {"id":"HP:0003969","name":"Slender forearm bones"} {"id":"HP:0003970","name":"Undermodelled forearm bones"} {"id":"HP:0003971","name":"Broad forearm bones"} {"id":"HP:0003973","name":"Wide radioulnar joints"} {"id":"HP:0003974","name":"Absent radius"} {"id":"HP:0003975","name":"Chevron-shaped/cone-shaped radius"} {"id":"HP:0003976","name":"Constricted radius"} {"id":"HP:0003977","name":"Deformed radius"} {"id":"HP:0003978","name":"Fractured radius"} {"id":"HP:0003979","name":"Lytic defects of the radius"} {"id":"HP:0003980","name":"Pseudarthrosis of the radius"} {"id":"HP:0003981","name":"Broad radius"} {"id":"HP:0003982","name":"Absent ulna"} {"id":"HP:0003984","name":"Posteriorly dislocated ulna"} {"id":"HP:0003985","name":"Exostoses of the ulna"} {"id":"HP:0003986","name":"Exostoses of the radius"} {"id":"HP:0003987","name":"Fractured ulna"} {"id":"HP:0003988","name":"Long ulna"} {"id":"HP:0003989","name":"Notched ulna"} {"id":"HP:0003990","name":"Pointed ulna"} {"id":"HP:0003991","name":"Osteosclerosis of the ulna"} {"id":"HP:0003992","name":"Slender ulna"} {"id":"HP:0003993","name":"Broad ulna"} {"id":"HP:0003994","name":"Dislocated wrist"} {"id":"HP:0003995","name":"Abnormality of the radial head"} {"id":"HP:0003996","name":"Flattened radial head"} {"id":"HP:0003997","name":"Hypoplastic radial head"} {"id":"HP:0003998","name":"Constricted radial neck"} {"id":"HP:0003999","name":"Abnormality of radial epiphyses"} {"id":"HP:0004000","name":"Chevron-shaped/cone-shaped radial epiphyses"} {"id":"HP:0004001","name":"Medially deficient radial epiphyses"} {"id":"HP:0004002","name":"Flattened radial epiphyses"} {"id":"HP:0004003","name":"Medially flattened radial epiphyses"} {"id":"HP:0004004","name":"Irregular radial epiphyses"} {"id":"HP:0004005","name":"Large radial epiphyses"} {"id":"HP:0004006","name":"Round radial epiphyses"} {"id":"HP:0004007","name":"Sclerotic radial epiphyses"} {"id":"HP:0004008","name":"Sloping radial epiphyses"} {"id":"HP:0004009","name":"Medially sloping radial epiphyses"} {"id":"HP:0004010","name":"Small radial epiphyses"} {"id":"HP:0004012","name":"Premature fusion of the radial epiphyseal plates"} {"id":"HP:0004013","name":"Medially fused radial epiphyseal plates"} {"id":"HP:0004014","name":"Broad radial epiphyseal plate"} {"id":"HP:0004015","name":"Abnormality of radial metaphyses"} {"id":"HP:0004016","name":"Cupped radial metaphyses"} {"id":"HP:0004017","name":"Exostoses of the radial metaphysis"} {"id":"HP:0004018","name":"Flared radial metaphysis"} {"id":"HP:0004019","name":"Radial metaphyseal irregularity"} {"id":"HP:0004020","name":"Irregular ossification of the radial metaphysis"} {"id":"HP:0004021","name":"Lytic defects of radial metaphysis"} {"id":"HP:0004022","name":"Sclerotic radial metaphysis with longitudinal striations"} {"id":"HP:0004023","name":"Sloping radial metaphysis"} {"id":"HP:0004024","name":"Medially sloping radial metaphysis"} {"id":"HP:0004025","name":"Spurred radial metaphysis"} {"id":"HP:0004026","name":"Broad radial metaphysis"} {"id":"HP:0004027","name":"Abnormality of radial diaphysis"} {"id":"HP:0004028","name":"Spurs of radial diaphysis"} {"id":"HP:0004029","name":"Lytic defects of radial diaphysis"} {"id":"HP:0004030","name":"Patchy sclerosis of radial diaphysis"} {"id":"HP:0004031","name":"Broad radial diaphysis"} {"id":"HP:0004032","name":"Abnormality of the olecranon"} {"id":"HP:0004033","name":"Curved olecranon"} {"id":"HP:0004034","name":"Irregular olecranon"} {"id":"HP:0004035","name":"Abnormality of the styloid process of ulna"} {"id":"HP:0004036","name":"Long styloid process of ulna"} {"id":"HP:0004037","name":"Abnormality of the ulnar epiphyses"} {"id":"HP:0004038","name":"Bony spikule of ulnar epiphyseal plate"} {"id":"HP:0004039","name":"Abnormality of ulnar metaphysis"} {"id":"HP:0004040","name":"Corner fragments of ulnar metaphysis"} {"id":"HP:0004041","name":"Cupped ulnar metaphysis"} {"id":"HP:0004042","name":"Ulnar metaphyseal irregularity"} {"id":"HP:0004043","name":"Lytic defects of ulnar metaphysis"} {"id":"HP:0004044","name":"Pointed ulnar metaphysis"} {"id":"HP:0004045","name":"Sloping ulnar metaphysis"} {"id":"HP:0004046","name":"Spurred ulnar metaphysis"} {"id":"HP:0004047","name":"Wide ulnar metaphysis"} {"id":"HP:0004048","name":"Narrow joint spaces of wrist"} {"id":"HP:0004049","name":"Decreased carpal angles of wrist"} {"id":"HP:0004050","name":"Absent hand"} {"id":"HP:0004051","name":"Advanced ossification of the hand bones"} {"id":"HP:0004052","name":"Delayed ossification of the hand bones"} {"id":"HP:0004053","name":"Dysharmonic maturation of the hand bones"} {"id":"HP:0004054","name":"Sclerosis of hand bone"} {"id":"HP:0004057","name":"Mitten deformity"} {"id":"HP:0004058","name":"Monodactyly (hands)"} {"id":"HP:0004059","name":"Radial club hand"} {"id":"HP:0004060","name":"Trident hand"} {"id":"HP:0004095","name":"Curved fingers"} {"id":"HP:0004097","name":"Deviation of finger"} {"id":"HP:0004099","name":"Macrodactyly"} {"id":"HP:0004100","name":"Abnormality of the 2nd finger"} {"id":"HP:0004112","name":"Midline nasal groove"} {"id":"HP:0004122","name":"Midline defect of the nose"} {"id":"HP:0004132","name":"Dimple on nasal tip"} {"id":"HP:0004150","name":"Abnormality of the 3rd finger"} {"id":"HP:0004172","name":"Abnormality of the middle phalanx of the 3rd finger"} {"id":"HP:0004180","name":"Short distal phalanx of the 3rd finger"} {"id":"HP:0004188","name":"Abnormality of the 4th finger"} {"id":"HP:0004195","name":"Osteolytic defects of the phalanges of the 4th finger"} {"id":"HP:0004197","name":"Symphalangism of the 4th finger"} {"id":"HP:0004207","name":"Abnormality of the 5th finger"} {"id":"HP:0004209","name":"Clinodactyly of the 5th finger"} {"id":"HP:0004213","name":"Abnormality of the phalanges of the 5th finger"} {"id":"HP:0004214","name":"Curved phalanges of the 5th finger"} {"id":"HP:0004216","name":"Osteolytic defects of the phalanges of the 5th finger"} {"id":"HP:0004218","name":"Symphalangism of the 5th finger"} {"id":"HP:0004219","name":"Abnormality of the middle phalanx of the 5th finger"} {"id":"HP:0004220","name":"Short middle phalanx of the 5th finger"} {"id":"HP:0004222","name":"Cone-shaped epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0004223","name":"Ivory epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0004224","name":"Abnormality of the epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0004225","name":"Abnormality of the distal phalanx of the 5th finger"} {"id":"HP:0004226","name":"Curved distal phalanx of the 5th finger"} {"id":"HP:0004227","name":"Short distal phalanx of the 5th finger"} {"id":"HP:0004230","name":"Subluxation of the proximal interphalangeal joint of the little finger"} {"id":"HP:0004231","name":"Carpal bone aplasia"} {"id":"HP:0004232","name":"Accessory carpal bones"} {"id":"HP:0004233","name":"Advanced ossification of carpal bones"} {"id":"HP:0004234","name":"Bone-in-a-bone appearance of carpal bones"} {"id":"HP:0004235","name":"Comma-shaped carpal bones"} {"id":"HP:0004236","name":"Irregular carpal bones"} {"id":"HP:0004237","name":"Large carpal bones"} {"id":"HP:0004238","name":"Lytic defects of carpal bones"} {"id":"HP:0004239","name":"Proximally placed carpal bones"} {"id":"HP:0004240","name":"Sclerotic foci within carpal bones"} {"id":"HP:0004241","name":"Stippled calcification in carpal bones"} {"id":"HP:0004242","name":"Broad carpal bones"} {"id":"HP:0004243","name":"Abnormality of the scaphoid"} {"id":"HP:0004244","name":"Accessory scaphoid"} {"id":"HP:0004245","name":"Comma-shaped scaphoid"} {"id":"HP:0004246","name":"Delayed ossification of the scaphoid"} {"id":"HP:0004247","name":"Small scaphoid"} {"id":"HP:0004248","name":"Abnormality of the lunate bone"} {"id":"HP:0004249","name":"Accessory lunate"} {"id":"HP:0004250","name":"Proximally placed lunate"} {"id":"HP:0004251","name":"Lunate-triquetral fusion"} {"id":"HP:0004252","name":"Abnormality of the trapezium"} {"id":"HP:0004253","name":"Absent trapezium"} {"id":"HP:0004254","name":"Delayed ossification of the trapezium"} {"id":"HP:0004255","name":"Small trapezium"} {"id":"HP:0004256","name":"Abnormality of the trapezoid bone"} {"id":"HP:0004257","name":"Delayed ossification of the trapezoid bone"} {"id":"HP:0004258","name":"Small trapezoid bone"} {"id":"HP:0004259","name":"Abnormality of the hamate bone"} {"id":"HP:0004260","name":"Large hamate bone"} {"id":"HP:0004261","name":"Wide hamate bone"} {"id":"HP:0004262","name":"Abnormality of the capitate bone"} {"id":"HP:0004263","name":"Large capitate bone"} {"id":"HP:0004264","name":"Narrow carpal joint spaces"} {"id":"HP:0004267","name":"Narrow small joints of the hand"} {"id":"HP:0004268","name":"Osteoarthritis of the small joints of the hand"} {"id":"HP:0004269","name":"Subluxation of the small joints of the hand"} {"id":"HP:0004271","name":"Cortical thickening of hand bones"} {"id":"HP:0004272","name":"Cortical thinning of hand bones"} {"id":"HP:0004273","name":"Cupped metaphyses of hand bones"} {"id":"HP:0004274","name":"Deficient ossification of hand bones"} {"id":"HP:0004275","name":"Duplication of hand bones"} {"id":"HP:0004276","name":"Exostoses of hand bones"} {"id":"HP:0004277","name":"Fractured hand bones"} {"id":"HP:0004278","name":"Synostosis involving bones of the hand"} {"id":"HP:0004279","name":"Short palm"} {"id":"HP:0004280","name":"Irregular ossification of hand bones"} {"id":"HP:0004281","name":"Irregular sclerosis of hand bones"} {"id":"HP:0004283","name":"Narrow palm"} {"id":"HP:0004284","name":"Notched hand bones"} {"id":"HP:0004285","name":"Overmodelled hand bones"} {"id":"HP:0004286","name":"Patchy sclerosis of hand bones"} {"id":"HP:0004287","name":"Pointed hand bones"} {"id":"HP:0004288","name":"Pseudoepiphyses of hand bones"} {"id":"HP:0004289","name":"Sclerotic foci in hand bones"} {"id":"HP:0004290","name":"Sclerosis of hand bones with transverse striations"} {"id":"HP:0004291","name":"Stippled calcification of hand bones"} {"id":"HP:0004292","name":"Undermodelled hand bones"} {"id":"HP:0004293","name":"Synostosis of second metacarpal-trapezoid"} {"id":"HP:0004294","name":"Subluxation of metacarpal phalangeal joints"} {"id":"HP:0004295","name":"Abnormality of the gastric mucosa"} {"id":"HP:0004296","name":"Abnormality of gastrointestinal vasculature"} {"id":"HP:0004297","name":"Abnormality of the biliary system"} {"id":"HP:0004298","name":"Abnormality of the abdominal wall"} {"id":"HP:0004299","name":"Hernia of the abdominal wall"} {"id":"HP:0004302","name":"Functional motor problems"} {"id":"HP:0004303","name":"Abnormality of muscle fibers"} {"id":"HP:0004305","name":"Involuntary movements"} {"id":"HP:0004306","name":"Abnormality of the endocardium"} {"id":"HP:0004307","name":"Abnormal anatomic location of the heart"} {"id":"HP:0004308","name":"Ventricular arrhythmia"} {"id":"HP:0004309","name":"Ventricular preexcitation"} {"id":"HP:0004311","name":"Abnormality of macrophages"} {"id":"HP:0004312","name":"Abnormality of reticulocytes"} {"id":"HP:0004313","name":"Hypogammaglobulinemia"} {"id":"HP:0004315","name":"IgG deficiency"} {"id":"HP:0004319","name":"Hypoaldosteronism"} {"id":"HP:0004320","name":"Vaginal fistula"} {"id":"HP:0004321","name":"Bladder fistula"} {"id":"HP:0004322","name":"Short stature"} {"id":"HP:0004323","name":"Abnormality of body weight"} {"id":"HP:0004324","name":"Increased body weight"} {"id":"HP:0004325","name":"Decreased body weight"} {"id":"HP:0004326","name":"Cachexia"} {"id":"HP:0004327","name":"Abnormality of the vitreous humor"} {"id":"HP:0004328","name":"Abnormality of the anterior segment of the eye"} {"id":"HP:0004329","name":"Abnormality of the posterior segment of the eye"} {"id":"HP:0004330","name":"Increased skull ossification"} {"id":"HP:0004331","name":"Decreased skull ossification"} {"id":"HP:0004332","name":"Abnormality of lymphocytes"} {"id":"HP:0004333","name":"Bone-marrow foam cells"} {"id":"HP:0004334","name":"Dermal atrophy"} {"id":"HP:0004336","name":"Myelin outfoldings"} {"id":"HP:0004337","name":"Abnormality of amino acid metabolism"} {"id":"HP:0004338","name":"Abnormality of aromatic amino acid family metabolism"} {"id":"HP:0004339","name":"Abnormality of sulfur amino acid metabolism"} {"id":"HP:0004340","name":"Abnormality of vitamin B metabolism"} {"id":"HP:0004341","name":"Abnormality of the vitamin B12 metabolism"} {"id":"HP:0004342","name":"Abnormality of galactoside metabolism"} {"id":"HP:0004343","name":"Abnormality of glycosphingolipid metabolism"} {"id":"HP:0004344","name":"Abnormality of cerebrosidase metabolism"} {"id":"HP:0004345","name":"Abnormality of ganglioside metabolism"} {"id":"HP:0004347","name":"Weakness of muscles of respiration"} {"id":"HP:0004348","name":"Abnormality of bone mineral density"} {"id":"HP:0004349","name":"Reduced bone mineral density"} {"id":"HP:0004352","name":"Abnormality of purine metabolism"} {"id":"HP:0004353","name":"Abnormality of pyrimidine metabolism"} {"id":"HP:0004354","name":"Abnormality of carboxylic acid metabolism"} {"id":"HP:0004355","name":"Abnormality of proteoglycan metabolism"} {"id":"HP:0004356","name":"Abnormality of lysosomal metabolism"} {"id":"HP:0004357","name":"Abnormality of leucine metabolism"} {"id":"HP:0004358","name":"Abnormality of superoxide metabolism"} {"id":"HP:0004359","name":"Abnormality of fatty-acid metabolism"} {"id":"HP:0004360","name":"Abnormality of acid-base homeostasis"} {"id":"HP:0004361","name":"Abnormality of circulating leptin level"} {"id":"HP:0004362","name":"Abnormality of the enteric ganglia"} {"id":"HP:0004363","name":"Abnormality of calcium homeostasis"} {"id":"HP:0004364","name":"Abnormality of nitrogen compound homeostasis"} {"id":"HP:0004365","name":"Abnormality of tryptophan metabolism"} {"id":"HP:0004366","name":"Abnormality of glycolysis"} {"id":"HP:0004367","name":"Abnormality of glycoprotein metabolism"} {"id":"HP:0004368","name":"Increased purine levels"} {"id":"HP:0004369","name":"Decreased purine levels"} {"id":"HP:0004370","name":"Abnormality of temperature regulation"} {"id":"HP:0004371","name":"Abnormality of glycosaminoglycan metabolism"} {"id":"HP:0004372","name":"Reduced consciousness/confusion"} {"id":"HP:0004373","name":"Focal dystonia"} {"id":"HP:0004374","name":"Hemiplegia/hemiparesis"} {"id":"HP:0004375","name":"Neoplasm of the nervous system"} {"id":"HP:0004376","name":"Neuroblastic tumors"} {"id":"HP:0004377","name":"Hematological neoplasm"} {"id":"HP:0004378","name":"Abnormality of the anus"} {"id":"HP:0004379","name":"Abnormality of alkaline phosphatase activity"} {"id":"HP:0004380","name":"Aortic valve calcification"} {"id":"HP:0004381","name":"Supravalvular aortic stenosis"} {"id":"HP:0004382","name":"Mitral valve calcification"} {"id":"HP:0004383","name":"Hypoplastic left heart"} {"id":"HP:0004384","name":"Type I truncus arteriosus"} {"id":"HP:0004385","name":"Protracted diarrhea"} {"id":"HP:0004386","name":"Gastrointestinal inflammation"} {"id":"HP:0004387","name":"Enterocolitis"} {"id":"HP:0004388","name":"Microcolon"} {"id":"HP:0004389","name":"Intestinal pseudo-obstruction"} {"id":"HP:0004390","name":"Hamartomatous polyposis"} {"id":"HP:0004392","name":"Prune belly"} {"id":"HP:0004394","name":"Multiple gastric polyps"} {"id":"HP:0004395","name":"Malnutrition"} {"id":"HP:0004396","name":"Poor appetite"} {"id":"HP:0004397","name":"Ectopic anus"} {"id":"HP:0004398","name":"Peptic ulcer"} {"id":"HP:0004399","name":"Congenital pyloric atresia"} {"id":"HP:0004400","name":"Abnormality of the pylorus"} {"id":"HP:0004401","name":"Meconium ileus"} {"id":"HP:0004403","name":"Proximal esophageal atresia"} {"id":"HP:0004404","name":"Abnormality of the nipple"} {"id":"HP:0004405","name":"Prominent nipples"} {"id":"HP:0004406","name":"Spontaneous, recurrent epistaxis"} {"id":"HP:0004407","name":"Bony paranasal bossing"} {"id":"HP:0004408","name":"Abnormality of the sense of smell"} {"id":"HP:0004409","name":"Hyposmia"} {"id":"HP:0004411","name":"Deviated nasal septum"} {"id":"HP:0004414","name":"Abnormality of the pulmonary artery"} {"id":"HP:0004415","name":"Pulmonary artery stenosis"} {"id":"HP:0004416","name":"Precocious atherosclerosis"} {"id":"HP:0004417","name":"Intermittent claudication"} {"id":"HP:0004418","name":"Thrombophlebitis"} {"id":"HP:0004419","name":"Recurrent thrombophlebitis"} {"id":"HP:0004420","name":"Arterial thrombosis"} {"id":"HP:0004421","name":"Elevated systolic blood pressure"} {"id":"HP:0004422","name":"Biparietal narrowing"} {"id":"HP:0004423","name":"Cranium bifidum occultum"} {"id":"HP:0004425","name":"Flat forehead"} {"id":"HP:0004426","name":"Abnormality of the cheeks"} {"id":"HP:0004428","name":"Elfin facies"} {"id":"HP:0004429","name":"Recurrent viral infections"} {"id":"HP:0004430","name":"Severe combined immunodeficiency"} {"id":"HP:0004431","name":"Complement deficiency"} {"id":"HP:0004432","name":"Agammaglobulinemia"} {"id":"HP:0004433","name":"Secretory IgA deficiency"} {"id":"HP:0004434","name":"C8 deficiency"} {"id":"HP:0004437","name":"Cranial hyperostosis"} {"id":"HP:0004438","name":"Hyperostosis frontalis interna"} {"id":"HP:0004439","name":"Craniofacial dysostosis"} {"id":"HP:0004440","name":"Coronal craniosynostosis"} {"id":"HP:0004442","name":"Sagittal craniosynostosis"} {"id":"HP:0004443","name":"Lambdoidal craniosynostosis"} {"id":"HP:0004444","name":"Spherocytosis"} {"id":"HP:0004445","name":"Elliptocytosis"} {"id":"HP:0004446","name":"Stomatocytosis"} {"id":"HP:0004447","name":"Poikilocytosis"} {"id":"HP:0004448","name":"Fulminant hepatic failure"} {"id":"HP:0004450","name":"Preauricular skin furrow"} {"id":"HP:0004451","name":"Postauricular skin tag"} {"id":"HP:0004452","name":"Abnormality of the middle ear ossicles"} {"id":"HP:0004453","name":"Overfolding of the superior helices"} {"id":"HP:0004454","name":"Abnormal middle ear reflexes"} {"id":"HP:0004458","name":"Dilatated internal auditory canal"} {"id":"HP:0004459","name":"Exostosis of the external auditory canal"} {"id":"HP:0004461","name":"Congenital earlobe sinuses"} {"id":"HP:0004463","name":"Absent brainstem auditory responses"} {"id":"HP:0004464","name":"Postauricular pit"} {"id":"HP:0004466","name":"Prolonged brainstem auditory evoked potentials"} {"id":"HP:0004467","name":"Preauricular pit"} {"id":"HP:0004468","name":"Anomalous tracheal cartilage"} {"id":"HP:0004469","name":"Chronic bronchitis"} {"id":"HP:0004470","name":"Atretic occipital cephalocele"} {"id":"HP:0004471","name":"Aplasia cutis congenita over the scalp vertex"} {"id":"HP:0004472","name":"Mandibular hyperostosis"} {"id":"HP:0004474","name":"Persistent open anterior fontanelle"} {"id":"HP:0004476","name":"Aplasia cutis congenita over parietal area"} {"id":"HP:0004478","name":"Ethmoidal encephalocele"} {"id":"HP:0004481","name":"Progressive macrocephaly"} {"id":"HP:0004482","name":"Relative macrocephaly"} {"id":"HP:0004484","name":"Craniofacial asymmetry"} {"id":"HP:0004485","name":"Cessation of head growth"} {"id":"HP:0004487","name":"Acrobrachycephaly"} {"id":"HP:0004488","name":"Macrocephaly at birth"} {"id":"HP:0004490","name":"Calvarial hyperostosis"} {"id":"HP:0004491","name":"Large posterior fontanelle"} {"id":"HP:0004492","name":"Widely patent fontanelles and sutures"} {"id":"HP:0004493","name":"Craniofacial hyperostosis"} {"id":"HP:0004495","name":"Thin anteverted nares"} {"id":"HP:0004496","name":"Posterior choanal atresia"} {"id":"HP:0004499","name":"Chronic rhinitis due to narrow nasal airway"} {"id":"HP:0004502","name":"Bilateral choanal atresia"} {"id":"HP:0004510","name":"Pancreatic islet-cell hyperplasia"} {"id":"HP:0004523","name":"Long eyebrows"} {"id":"HP:0004524","name":"Temporal hypotrichosis"} {"id":"HP:0004527","name":"Large clumps of pigment irregularly distributed along hair shaft"} {"id":"HP:0004528","name":"Generalized hypotrichosis"} {"id":"HP:0004529","name":"Atrophic, patchy alopecia"} {"id":"HP:0004532","name":"Sacral hypertrichosis"} {"id":"HP:0004535","name":"Anterior cervical hypertrichosis"} {"id":"HP:0004540","name":"Congenital, generalized hypertrichosis"} {"id":"HP:0004544","name":"Pointed frontal hairline"} {"id":"HP:0004552","name":"Scarring alopecia of scalp"} {"id":"HP:0004554","name":"Generalized hypertrichosis"} {"id":"HP:0004557","name":"Anterior vertebral fusion"} {"id":"HP:0004558","name":"Cervical platyspondyly"} {"id":"HP:0004562","name":"Beaking of vertebral bodies T12-L3"} {"id":"HP:0004563","name":"Increased spinal bone density"} {"id":"HP:0004565","name":"Severe platyspondyly"} {"id":"HP:0004566","name":"Pear-shaped vertebrae"} {"id":"HP:0004568","name":"Beaking of vertebral bodies"} {"id":"HP:0004570","name":"Increased vertebral height"} {"id":"HP:0004571","name":"Widening of cervical spinal canal"} {"id":"HP:0004573","name":"Anterior wedging of T11"} {"id":"HP:0004575","name":"Fusion of midcervical facet joints"} {"id":"HP:0004576","name":"Sclerotic vertebral endplates"} {"id":"HP:0004580","name":"Anterior scalloping of vertebral bodies"} {"id":"HP:0004581","name":"Increased anterior vertebral height"} {"id":"HP:0004582","name":"Irregularity of vertebral bodies"} {"id":"HP:0004586","name":"Biconcave vertebral bodies"} {"id":"HP:0004589","name":"Dysplasia of second lumbar vertebra"} {"id":"HP:0004590","name":"Hypoplastic sacrum"} {"id":"HP:0004591","name":"Disc-like vertebral bodies"} {"id":"HP:0004592","name":"Thoracic platyspondyly"} {"id":"HP:0004594","name":"Hump-shaped mound of bone in central and posterior portions of vertebral endplate"} {"id":"HP:0004598","name":"Supernumerary vertebral ossification centers"} {"id":"HP:0004599","name":"Absent or minimally ossified vertebral bodies"} {"id":"HP:0004601","name":"Spina bifida occulta at L5"} {"id":"HP:0004602","name":"Cervical vertebral fusion (C2/C3)"} {"id":"HP:0004603","name":"Hyperconvex vertebral body endplates"} {"id":"HP:0004605","name":"Absent vertebral body mineralization"} {"id":"HP:0004606","name":"Unossified vertebral bodies"} {"id":"HP:0004607","name":"Anterior beaking of lower thoracic vertebrae"} {"id":"HP:0004608","name":"Anteriorly placed odontoid process"} {"id":"HP:0004609","name":"Patchy distortion of vertebrae"} {"id":"HP:0004610","name":"Lumbar spinal canal stenosis"} {"id":"HP:0004611","name":"Anterior concavity of thoracic vertebrae"} {"id":"HP:0004614","name":"Spina bifida occulta at S1"} {"id":"HP:0004616","name":"Cleft vertebral arch"} {"id":"HP:0004617","name":"Butterfly vertebral arch"} {"id":"HP:0004618","name":"Sandwich appearance of vertebral bodies"} {"id":"HP:0004619","name":"Lumbar kyphoscoliosis"} {"id":"HP:0004621","name":"Enlarged vertebral pedicles"} {"id":"HP:0004622","name":"Progressive intervertebral space narrowing"} {"id":"HP:0004625","name":"Biconvex vertebral bodies"} {"id":"HP:0004626","name":"Lumbar scoliosis"} {"id":"HP:0004629","name":"Small cervical vertebral bodies"} {"id":"HP:0004630","name":"Anterior beaking of thoracic vertebrae"} {"id":"HP:0004631","name":"Decreased cervical spine flexion due to contractures of posterior cervical muscles"} {"id":"HP:0004632","name":"Cervical segmentation defect"} {"id":"HP:0004633","name":"Lower thoracic kyphosis"} {"id":"HP:0004634","name":"Cuboid-shaped vertebral bodies"} {"id":"HP:0004635","name":"Cervical vertebrae fusion (C5/C6)"} {"id":"HP:0004637","name":"Decreased cervical spine mobility"} {"id":"HP:0004639","name":"Elevated amniotic fluid alpha-fetoprotein"} {"id":"HP:0004646","name":"Hypoplasia of the nasal bone"} {"id":"HP:0004660","name":"Hypoplasia of facial musculature"} {"id":"HP:0004661","name":"Frontalis muscle weakness"} {"id":"HP:0004664","name":"Facial midline hemangioma"} {"id":"HP:0004673","name":"Decreased facial expression"} {"id":"HP:0004676","name":"Prominent supraorbital arches in adult"} {"id":"HP:0004679","name":"Large tarsal bones"} {"id":"HP:0004681","name":"Deep longitudinal plantar crease"} {"id":"HP:0004684","name":"Talipes valgus"} {"id":"HP:0004686","name":"Short third metatarsal"} {"id":"HP:0004688","name":"Irregular tarsal bones"} {"id":"HP:0004689","name":"Short fourth metatarsal"} {"id":"HP:0004690","name":"Thickened Achilles tendon"} {"id":"HP:0004691","name":"2-3 toe syndactyly"} {"id":"HP:0004692","name":"4-5 toe syndactyly"} {"id":"HP:0004695","name":"Calcaneal epiphyseal stippling"} {"id":"HP:0004696","name":"Talipes cavus equinovarus"} {"id":"HP:0004699","name":"Osteoporotic metatarsal"} {"id":"HP:0004704","name":"Short fifth metatarsal"} {"id":"HP:0004712","name":"Renal malrotation"} {"id":"HP:0004713","name":"Reversible renal failure"} {"id":"HP:0004717","name":"Axial malrotation of the kidney"} {"id":"HP:0004719","name":"Hyperechogenic kidneys"} {"id":"HP:0004722","name":"Thickening of the glomerular basement membrane"} {"id":"HP:0004724","name":"Calcium nephrolithiasis"} {"id":"HP:0004727","name":"Impaired renal concentrating ability"} {"id":"HP:0004729","name":"Acute tubulointerstitial nephritis"} {"id":"HP:0004732","name":"Impaired renal uric acid clearance"} {"id":"HP:0004734","name":"Renal cortical microcysts"} {"id":"HP:0004736","name":"Crossed fused renal ectopia"} {"id":"HP:0004737","name":"Global glomerulosclerosis"} {"id":"HP:0004742","name":"Abnormality of the renal collecting system"} {"id":"HP:0004743","name":"Chronic tubulointerstitial nephritis"} {"id":"HP:0004746","name":"Dense deposit disease"} {"id":"HP:0004749","name":"Atrial flutter"} {"id":"HP:0004751","name":"Paroxysmal ventricular tachycardia"} {"id":"HP:0004752","name":"Congenital atrioventricular dissociation"} {"id":"HP:0004754","name":"Permanent atrial fibrillation"} {"id":"HP:0004755","name":"Supraventricular tachycardia"} {"id":"HP:0004756","name":"Ventricular tachycardia"} {"id":"HP:0004757","name":"Paroxysmal atrial fibrillation"} {"id":"HP:0004758","name":"Effort-induced polymorphic ventricular tachycardias"} {"id":"HP:0004759","name":"Nodular calcific aortic valve disease"} {"id":"HP:0004760","name":"Congenital septal defect"} {"id":"HP:0004761","name":"Post-angioplasty coronary artery restenosis"} {"id":"HP:0004762","name":"Hypoplasia of right ventricle"} {"id":"HP:0004763","name":"Paroxysmal supraventricular tachycardia"} {"id":"HP:0004764","name":"Myxomatous mitral valve degeneration"} {"id":"HP:0004768","name":"Sparse anterior scalp hair"} {"id":"HP:0004771","name":"Premature graying of body hair"} {"id":"HP:0004779","name":"Brittle scalp hair"} {"id":"HP:0004780","name":"Elbow hypertrichosis"} {"id":"HP:0004782","name":"Hypotrichosis of the scalp"} {"id":"HP:0004783","name":"Duodenal polyposis"} {"id":"HP:0004784","name":"Juvenile gastrointestinal polyposis"} {"id":"HP:0004785","name":"Malrotation of colon"} {"id":"HP:0004786","name":"Jejunal diverticula"} {"id":"HP:0004787","name":"Fulminant hepatitis"} {"id":"HP:0004788","name":"Intestinal lymphedema"} {"id":"HP:0004789","name":"Lactose intolerance"} {"id":"HP:0004790","name":"Hypoplasia of the small intestine"} {"id":"HP:0004791","name":"Esophageal ulceration"} {"id":"HP:0004792","name":"Rectoperineal fistula"} {"id":"HP:0004794","name":"Malrotation of small bowel"} {"id":"HP:0004795","name":"Hamartomatous stomach polyps"} {"id":"HP:0004796","name":"Gastrointestinal obstruction"} {"id":"HP:0004797","name":"Multiple small bowel atresias"} {"id":"HP:0004798","name":"Recurrent infection of the gastrointestinal tract"} {"id":"HP:0004799","name":"Jejunoileal diverticula"} {"id":"HP:0004800","name":"Duodenal diverticula"} {"id":"HP:0004802","name":"Episodic hemolytic anemia"} {"id":"HP:0004804","name":"Congenital hemolytic anemia"} {"id":"HP:0004808","name":"Acute myeloid leukemia"} {"id":"HP:0004809","name":"Neonatal alloimmune thrombocytopenia"} {"id":"HP:0004810","name":"Congenital hypoplastic anemia"} {"id":"HP:0004812","name":"Pre-B-cell acute lymphoblastic leukemia"} {"id":"HP:0004813","name":"Post-transfusion thrombocytopenia"} {"id":"HP:0004814","name":"Fava bean-induced hemolytic anemia"} {"id":"HP:0004817","name":"Drug-sensitive hemolytic anemia"} {"id":"HP:0004818","name":"Paroxysmal nocturnal hemoglobinuria"} {"id":"HP:0004819","name":"Normocytic hypoplastic anemia"} {"id":"HP:0004820","name":"Acute myelomonocytic leukemia"} {"id":"HP:0004821","name":"Hypersegmentation of neutrophil nuclei"} {"id":"HP:0004822","name":"Atypical elliptocytosis"} {"id":"HP:0004823","name":"Anisopoikilocytosis"} {"id":"HP:0004825","name":"Increased hemoglobin oxygen affinity"} {"id":"HP:0004826","name":"Folate-unresponsive megaloblastic anemia"} {"id":"HP:0004828","name":"Refractory anemia with ringed sideroblasts"} {"id":"HP:0004831","name":"Recurrent thromboembolism"} {"id":"HP:0004835","name":"Microspherocytosis"} {"id":"HP:0004836","name":"Acute promyelocytic leukemia"} {"id":"HP:0004839","name":"Pyropoikilocytosis"} {"id":"HP:0004840","name":"Hypochromic microcytic anemia"} {"id":"HP:0004841","name":"Reduced factor XII activity"} {"id":"HP:0004844","name":"Coombs-positive hemolytic anemia"} {"id":"HP:0004845","name":"Acute monocytic leukemia"} {"id":"HP:0004846","name":"Prolonged bleeding after surgery"} {"id":"HP:0004848","name":"Ph-positive acute lymphoblastic leukemia"} {"id":"HP:0004850","name":"Recurrent deep vein thrombosis"} {"id":"HP:0004851","name":"Folate-responsive megaloblastic anemia"} {"id":"HP:0004852","name":"Reduced leukocyte alkaline phosphatase"} {"id":"HP:0004854","name":"Intermittent thrombocytopenia"} {"id":"HP:0004855","name":"Reduced protein S activity"} {"id":"HP:0004856","name":"Normochromic microcytic anemia"} {"id":"HP:0004857","name":"Hyperchromic macrocytic anemia"} {"id":"HP:0004859","name":"Amegakaryocytic thrombocytopenia"} {"id":"HP:0004860","name":"Thiamine-responsive megaloblastic anemia"} {"id":"HP:0004861","name":"Refractory macrocytic anemia"} {"id":"HP:0004863","name":"Compensated hemolytic anemia"} {"id":"HP:0004864","name":"Refractory sideroblastic anemia"} {"id":"HP:0004866","name":"Impaired ADP-induced platelet aggregation"} {"id":"HP:0004870","name":"Chronic hemolytic anemia"} {"id":"HP:0004871","name":"Perineal fistula"} {"id":"HP:0004872","name":"Incisional hernia"} {"id":"HP:0004875","name":"Neonatal inspiratory stridor"} {"id":"HP:0004876","name":"Spontaneous neonatal pneumothorax"} {"id":"HP:0004878","name":"Intercostal muscle weakness"} {"id":"HP:0004879","name":"Intermittent hyperventilation"} {"id":"HP:0004880","name":"Respiratory infections in early life"} {"id":"HP:0004881","name":"Episodic hypoventilation"} {"id":"HP:0004885","name":"Episodic respiratory distress"} {"id":"HP:0004886","name":"Congenital laryngeal stridor"} {"id":"HP:0004887","name":"Respiratory failure requiring assisted ventilation"} {"id":"HP:0004889","name":"Intermittent episodes of respiratory insufficiency due to muscle weakness"} {"id":"HP:0004890","name":"Elevated pulmonary artery pressure"} {"id":"HP:0004891","name":"Recurrent infections due to aspiration"} {"id":"HP:0004894","name":"Laryngotracheal stenosis"} {"id":"HP:0004897","name":"Stress/infection-induced lactic acidosis"} {"id":"HP:0004898","name":"Persistent lactic acidosis"} {"id":"HP:0004900","name":"Severe lactic acidosis"} {"id":"HP:0004901","name":"Exercise-induced lactic acidemia"} {"id":"HP:0004902","name":"Congenital lactic acidosis"} {"id":"HP:0004904","name":"Maturity-onset diabetes of the young"} {"id":"HP:0004905","name":"Vitamin A deficiency"} {"id":"HP:0004906","name":"Hypernatremic dehydration"} {"id":"HP:0004909","name":"Hypokalemic hypochloremic metabolic alkalosis"} {"id":"HP:0004910","name":"Bicarbonate-wasting renal tubular acidosis"} {"id":"HP:0004911","name":"Episodic metabolic acidosis"} {"id":"HP:0004912","name":"Hypophosphatemic rickets"} {"id":"HP:0004913","name":"Intermittent lactic acidemia"} {"id":"HP:0004914","name":"Recurrent infantile hypoglycemia"} {"id":"HP:0004915","name":"Impairment of galactose metabolism"} {"id":"HP:0004916","name":"Generalized distal tubular acidosis"} {"id":"HP:0004918","name":"Hyperchloremic metabolic acidosis"} {"id":"HP:0004919","name":"Galactose intolerance"} {"id":"HP:0004920","name":"Phenylpyruvic acidemia"} {"id":"HP:0004921","name":"Abnormality of magnesium homeostasis"} {"id":"HP:0004922","name":"Atypical hyperphenylalaninemia"} {"id":"HP:0004923","name":"Hyperphenylalaninemia"} {"id":"HP:0004924","name":"Abnormal oral glucose tolerance"} {"id":"HP:0004925","name":"Chronic lactic acidosis"} {"id":"HP:0004926","name":"Orthostatic hypotension due to autonomic dysfunction"} {"id":"HP:0004927","name":"Pulmonary artery dilatation"} {"id":"HP:0004928","name":"Peripheral arterial stenosis"} {"id":"HP:0004929","name":"Coronary atherosclerosis"} {"id":"HP:0004930","name":"Abnormality of the pulmonary vasculature"} {"id":"HP:0004931","name":"Arteriosclerosis of small cerebral arteries"} {"id":"HP:0004933","name":"Ascending aortic dissection"} {"id":"HP:0004934","name":"Vascular calcification"} {"id":"HP:0004935","name":"Pulmonary artery atresia"} {"id":"HP:0004936","name":"Venous thrombosis"} {"id":"HP:0004937","name":"Pulmonary artery aneurysm"} {"id":"HP:0004938","name":"Tortuous cerebral arteries"} {"id":"HP:0004940","name":"Generalized arterial calcification"} {"id":"HP:0004941","name":"Extrahepatic portal hypertension"} {"id":"HP:0004942","name":"Aortic aneurysm"} {"id":"HP:0004943","name":"Accelerated atherosclerosis"} {"id":"HP:0004944","name":"Cerebral aneurysm"} {"id":"HP:0004945","name":"Extracranial internal carotid artery dissection"} {"id":"HP:0004947","name":"Arteriovenous fistula"} {"id":"HP:0004948","name":"Vascular tortuosity"} {"id":"HP:0004950","name":"Peripheral arterial disease"} {"id":"HP:0004952","name":"Pulmonary arteriovenous fistulas"} {"id":"HP:0004953","name":"Abdominal aortic aneurysm"} {"id":"HP:0004954","name":"Descending aortic aneurysm"} {"id":"HP:0004955","name":"Generalized arterial tortuosity"} {"id":"HP:0004959","name":"Dilatation of the descending thoracic aorta"} {"id":"HP:0004960","name":"Absent pulmonary artery"} {"id":"HP:0004961","name":"Pulmonary artery sling"} {"id":"HP:0004962","name":"Thoracic aorta calcification"} {"id":"HP:0004963","name":"Calcification of the aorta"} {"id":"HP:0004964","name":"Pulmonary arterial medial hypertrophy"} {"id":"HP:0004966","name":"Medial calcification of large arteries"} {"id":"HP:0004968","name":"Recurrent cerebral hemorrhage"} {"id":"HP:0004969","name":"Peripheral pulmonary artery stenosis"} {"id":"HP:0004970","name":"Ascending aortic dilation"} {"id":"HP:0004971","name":"Pulmonary artery hypoplasia"} {"id":"HP:0004972","name":"Elevated mean arterial pressure"} {"id":"HP:0004974","name":"Coarctation of abdominal aorta"} {"id":"HP:0004975","name":"Erlenmeyer flask deformity of the femurs"} {"id":"HP:0004976","name":"Knee dislocation"} {"id":"HP:0004977","name":"Bilateral radial aplasia"} {"id":"HP:0004979","name":"Metaphyseal sclerosis"} {"id":"HP:0004980","name":"Metaphyseal rarefaction"} {"id":"HP:0004981","name":"Prominent styloid process of ulna"} {"id":"HP:0004987","name":"Mesomelic leg shortening"} {"id":"HP:0004990","name":"Epiphyseal streaking"} {"id":"HP:0004991","name":"Rhizomelic arm shortening"} {"id":"HP:0004993","name":"Slender long bones with narrow diaphyses"} {"id":"HP:0004997","name":"Multicentric ossification of proximal humeral epiphyses"} {"id":"HP:0005001","name":"Recurrent patellar dislocation"} {"id":"HP:0005003","name":"Aplasia/Hypoplasia of the capital femoral epiphysis"} {"id":"HP:0005004","name":"Flattened proximal radial epiphyses"} {"id":"HP:0005005","name":"Femoral bowing present at birth, straightening with time"} {"id":"HP:0005008","name":"Large joint dislocations"} {"id":"HP:0005009","name":"Dumbbell-shaped humerus"} {"id":"HP:0005010","name":"Osteomyelitis leading to amputation due to slow healing fractures"} {"id":"HP:0005011","name":"Mesomelic arm shortening"} {"id":"HP:0005013","name":"Dysplastic distal radial epiphyses"} {"id":"HP:0005017","name":"Polyarticular chondrocalcinosis"} {"id":"HP:0005019","name":"Diaphyseal thickening"} {"id":"HP:0005021","name":"Bilateral elbow dislocations"} {"id":"HP:0005025","name":"Hypoplastic distal humeri"} {"id":"HP:0005026","name":"Mesomelic/rhizomelic limb shortening"} {"id":"HP:0005028","name":"Widened proximal tibial metaphyses"} {"id":"HP:0005033","name":"Distal ulnar hypoplasia"} {"id":"HP:0005035","name":"Shortening of all phalanges of the toes"} {"id":"HP:0005036","name":"Unilateral ulnar hypoplasia"} {"id":"HP:0005037","name":"Proximal radio-ulnar synostosis"} {"id":"HP:0005039","name":"Multiple long-bone exostoses"} {"id":"HP:0005041","name":"Irregular capital femoral epiphysis"} {"id":"HP:0005042","name":"Irregular, rachitic-like metaphyses"} {"id":"HP:0005043","name":"Proximal humeral metaphyseal irregularity"} {"id":"HP:0005045","name":"Diaphyseal cortical sclerosis"} {"id":"HP:0005048","name":"Synostosis of carpal bones"} {"id":"HP:0005050","name":"Anterolateral radial head dislocation"} {"id":"HP:0005054","name":"Metaphyseal spurs"} {"id":"HP:0005059","name":"Arthralgia/arthritis"} {"id":"HP:0005060","name":"Limited elbow flexion/extension"} {"id":"HP:0005063","name":"Fragmented, irregular epiphyses"} {"id":"HP:0005066","name":"Cone-shaped epiphyses fused within their metaphyses"} {"id":"HP:0005067","name":"Proximal fibular overgrowth"} {"id":"HP:0005068","name":"Absent styloid process of ulna"} {"id":"HP:0005069","name":"Rhizo-meso-acromelic limb shortening"} {"id":"HP:0005070","name":"Proximal radial head dislocation"} {"id":"HP:0005072","name":"Hyperextensibility at wrists"} {"id":"HP:0005084","name":"Anterior radial head dislocation"} {"id":"HP:0005085","name":"Limited knee flexion/extension"} {"id":"HP:0005086","name":"Knee osteoarthritis"} {"id":"HP:0005089","name":"Abnormal metaphyseal trabeculation"} {"id":"HP:0005090","name":"Lateral femoral bowing"} {"id":"HP:0005092","name":"Streaky metaphyseal sclerosis"} {"id":"HP:0005093","name":"Absent proximal radial epiphyses"} {"id":"HP:0005096","name":"Distal femoral bowing"} {"id":"HP:0005099","name":"Severe hydrops fetalis"} {"id":"HP:0005100","name":"Premature birth following premature rupture of fetal membranes"} {"id":"HP:0005101","name":"High-frequency hearing impairment"} {"id":"HP:0005102","name":"Cochlear degeneration"} {"id":"HP:0005103","name":"Calcification of the auricular cartilage"} {"id":"HP:0005104","name":"Hypoplastic nasal septum"} {"id":"HP:0005105","name":"Abnormal nasal morphology"} {"id":"HP:0005106","name":"Abnormality of the vertebral endplates"} {"id":"HP:0005107","name":"Abnormality of the sacrum"} {"id":"HP:0005108","name":"Abnormality of the intervertebral disk"} {"id":"HP:0005109","name":"Abnormality of the Achilles tendon"} {"id":"HP:0005110","name":"Atrial fibrillation"} {"id":"HP:0005111","name":"Dilatation of the ascending aorta"} {"id":"HP:0005112","name":"Dilatation of the abdominal aorta"} {"id":"HP:0005113","name":"Dilatation of the aortic arch"} {"id":"HP:0005114","name":"Abnormalities of the peripheral arteries"} {"id":"HP:0005115","name":"Supraventricular arrhythmia"} {"id":"HP:0005116","name":"Arterial tortuosity"} {"id":"HP:0005117","name":"Elevated diastolic blood pressure"} {"id":"HP:0005120","name":"Abnormality of cardiac atrium"} {"id":"HP:0005121","name":"Posterior scalloping of vertebral bodies"} {"id":"HP:0005129","name":"Congenital hypertrophy of left ventricle"} {"id":"HP:0005130","name":"Restrictive heart failure"} {"id":"HP:0005132","name":"Pericardial constriction"} {"id":"HP:0005133","name":"Right ventricular dilatation"} {"id":"HP:0005134","name":"Absence of the pulmonary valve"} {"id":"HP:0005135","name":"EKG: T-wave abnormalities"} {"id":"HP:0005136","name":"Premature calcification of mitral annulus"} {"id":"HP:0005141","name":"Episodes of ventricular tachycardia"} {"id":"HP:0005143","name":"Anomalous origin of right pulmonary artery from ascending aorta"} {"id":"HP:0005144","name":"Left ventricular septal hypertrophy"} {"id":"HP:0005145","name":"Coronary artery stenosis"} {"id":"HP:0005146","name":"Cardiac valve calcification"} {"id":"HP:0005147","name":"Bidirectional ventricular ectopy"} {"id":"HP:0005148","name":"Pulmonary valve defects"} {"id":"HP:0005150","name":"Abnormal atrioventricular conduction"} {"id":"HP:0005151","name":"Preductal coarctation of the aorta"} {"id":"HP:0005152","name":"Oncocytic cardiomyopathy"} {"id":"HP:0005155","name":"Ventricular escape rhythms"} {"id":"HP:0005156","name":"Hypoplastic left atrium"} {"id":"HP:0005157","name":"Concentric hypertrophic cardiomyopathy"} {"id":"HP:0005160","name":"Total anomalous pulmonary venous return"} {"id":"HP:0005162","name":"Impaired left ventricular function"} {"id":"HP:0005164","name":"Dysplastic pulmonary valve"} {"id":"HP:0005165","name":"Shortened PR interval"} {"id":"HP:0005168","name":"Elevated right atrial pressure"} {"id":"HP:0005170","name":"Complete heart block with broad RS complexes"} {"id":"HP:0005172","name":"Left postterior fascicular block"} {"id":"HP:0005173","name":"Calcific aortic valve stenosis"} {"id":"HP:0005174","name":"Membranous subvalvular aortic stenosis"} {"id":"HP:0005176","name":"Dysplastic aortic valve"} {"id":"HP:0005177","name":"Premature arteriosclerosis"} {"id":"HP:0005178","name":"Complete heart block with narrow QRS complexes"} {"id":"HP:0005180","name":"Tricuspid regurgitation"} {"id":"HP:0005181","name":"Premature coronary artery disease"} {"id":"HP:0005182","name":"Bicuspid pulmonary valve"} {"id":"HP:0005183","name":"Pericardial lymphangiectasia"} {"id":"HP:0005184","name":"Prolonged QTc interval"} {"id":"HP:0005185","name":"Global systolic dysfunction"} {"id":"HP:0005186","name":"Synovial hypertrophy"} {"id":"HP:0005187","name":"Progressive joint destruction"} {"id":"HP:0005190","name":"Proximal finger joint hyperextensibility"} {"id":"HP:0005191","name":"Congenital knee dislocation"} {"id":"HP:0005193","name":"Restricted large joint movement"} {"id":"HP:0005194","name":"Flattened metatarsal heads"} {"id":"HP:0005195","name":"Polyarticular arthropathy"} {"id":"HP:0005197","name":"Generalized morning stiffness"} {"id":"HP:0005198","name":"Stiff interphalangeal joints"} {"id":"HP:0005199","name":"Aplasia of the abdominal wall musculature"} {"id":"HP:0005200","name":"Retroperitoneal fibrosis"} {"id":"HP:0005201","name":"Anomalous splenoportal venous system"} {"id":"HP:0005202","name":"Helicobacter pylori infection"} {"id":"HP:0005203","name":"Spontaneous esophageal perforation"} {"id":"HP:0005206","name":"Pancreatic pseudocyst"} {"id":"HP:0005207","name":"Gastric hypertrophy"} {"id":"HP:0005208","name":"Secretory diarrhea"} {"id":"HP:0005209","name":"Intrahepatic bile duct cysts"} {"id":"HP:0005210","name":"Hypoplastic colon"} {"id":"HP:0005211","name":"Midgut malrotation"} {"id":"HP:0005212","name":"Anal mucosal leukoplakia"} {"id":"HP:0005213","name":"Pancreatic calcification"} {"id":"HP:0005214","name":"Intestinal obstruction"} {"id":"HP:0005215","name":"Frequent Giardia lamblia infestation"} {"id":"HP:0005216","name":"Chewing difficulties"} {"id":"HP:0005217","name":"Duplication of internal organs"} {"id":"HP:0005218","name":"Anoperineal fistula"} {"id":"HP:0005219","name":"Absence of intrinsic factor"} {"id":"HP:0005220","name":"Multiple intestinal neurofibromatosis"} {"id":"HP:0005222","name":"Bowel diverticulosis"} {"id":"HP:0005223","name":"Duplicated colon"} {"id":"HP:0005224","name":"Rectal abscess"} {"id":"HP:0005225","name":"Intestinal edema"} {"id":"HP:0005227","name":"Adenomatous colonic polyposis"} {"id":"HP:0005229","name":"Jejunoileal ulceration"} {"id":"HP:0005230","name":"Biliary tract obstruction"} {"id":"HP:0005231","name":"Chronic gastritis"} {"id":"HP:0005232","name":"Pancreatic dysplasia"} {"id":"HP:0005233","name":"Hypoplasia of the gallbladder"} {"id":"HP:0005234","name":"Neonatal intestinal obstruction"} {"id":"HP:0005235","name":"Jejunal atresia"} {"id":"HP:0005236","name":"Chronic calcifying pancreatitis"} {"id":"HP:0005237","name":"Degenerative liver disease"} {"id":"HP:0005238","name":"Discrete intestinal polyps"} {"id":"HP:0005240","name":"Esophageal obstruction"} {"id":"HP:0005241","name":"Total intestinal aganglionosis"} {"id":"HP:0005242","name":"Extrahepatic biliary duct atresia"} {"id":"HP:0005243","name":"Partial abdominal muscle agenesis"} {"id":"HP:0005244","name":"Gastrointestinal infarctions"} {"id":"HP:0005245","name":"Intestinal hypoplasia"} {"id":"HP:0005246","name":"Giant hypertrophic gastritis"} {"id":"HP:0005247","name":"Hypoplasia of the abdominal wall musculature"} {"id":"HP:0005248","name":"Intrahepatic biliary atresia"} {"id":"HP:0005249","name":"Functional intestinal obstruction"} {"id":"HP:0005250","name":"High intestinal obstruction"} {"id":"HP:0005253","name":"Increased anterioposterior diameter of thorax"} {"id":"HP:0005254","name":"Unilateral chest hypoplasia"} {"id":"HP:0005255","name":"Absence of pectoralis minor muscle"} {"id":"HP:0005256","name":"Unilateral absence of pectoralis major muscle"} {"id":"HP:0005257","name":"Thoracic hypoplasia"} {"id":"HP:0005258","name":"Pectoral muscle hypoplasia/aplasia"} {"id":"HP:0005259","name":"Abnormal facility in opposing the shoulders"} {"id":"HP:0005261","name":"Joint hemorrhage"} {"id":"HP:0005262","name":"Abnormality of the synovia"} {"id":"HP:0005263","name":"Gastritis"} {"id":"HP:0005264","name":"Abnormality of the gallbladder"} {"id":"HP:0005265","name":"Abnormality of the jejunum"} {"id":"HP:0005266","name":"Intestinal polyp"} {"id":"HP:0005267","name":"Premature delivery because of cervical insufficiency or membrane fragility"} {"id":"HP:0005268","name":"Spontaneous abortion"} {"id":"HP:0005272","name":"Prominent nasolabial fold"} {"id":"HP:0005273","name":"Absent nasal septal cartilage"} {"id":"HP:0005274","name":"Prominent nasal tip"} {"id":"HP:0005275","name":"Cartilaginous ossification of nose"} {"id":"HP:0005278","name":"Hypoplastic nasal tip"} {"id":"HP:0005280","name":"Depressed nasal bridge"} {"id":"HP:0005281","name":"Hypoplastic nasal bridge"} {"id":"HP:0005285","name":"Absent nasal bridge"} {"id":"HP:0005288","name":"Abnormality of the nares"} {"id":"HP:0005289","name":"Abnormality of the nasolabial region"} {"id":"HP:0005290","name":"Internal carotid artery hypoplasia"} {"id":"HP:0005291","name":"Inflammatory arteriopathy"} {"id":"HP:0005292","name":"Intimal thickening in the coronary arteries"} {"id":"HP:0005293","name":"Venous insufficiency"} {"id":"HP:0005294","name":"Arterial dissection"} {"id":"HP:0005295","name":"Pseudocoarctation of the aorta"} {"id":"HP:0005296","name":"Occlusive vascular disease"} {"id":"HP:0005297","name":"Premature occlusive vascular disease"} {"id":"HP:0005298","name":"Atrioventricular canal defect with right ventricle aorta and pulmonary atresia"} {"id":"HP:0005299","name":"Premature peripheral vascular disease"} {"id":"HP:0005300","name":"Nodular inflammatory vasculitis"} {"id":"HP:0005301","name":"Persistent left superior vena cava"} {"id":"HP:0005302","name":"Carotid artery tortuosity"} {"id":"HP:0005303","name":"Aortic arch calcification"} {"id":"HP:0005304","name":"Hypoplastic pulmonary veins"} {"id":"HP:0005305","name":"Cerebral venous thrombosis"} {"id":"HP:0005306","name":"Capillary hemangiomas"} {"id":"HP:0005307","name":"Postural hypotension with compensatory tachycardia"} {"id":"HP:0005308","name":"Pulmonary artery vasoconstriction"} {"id":"HP:0005309","name":"Peripheral vascular insufficiency"} {"id":"HP:0005310","name":"Large vessel vasculitis"} {"id":"HP:0005311","name":"Agenesis of pulmonary vessels"} {"id":"HP:0005312","name":"Pulmonary aterial intimal fibrosis"} {"id":"HP:0005313","name":"Arterial fibromuscular dysplasia"} {"id":"HP:0005314","name":"Anomalous branches of internal carotid artery"} {"id":"HP:0005315","name":"Occlusive arterial disease"} {"id":"HP:0005316","name":"Peripheral pulmonary vessel aplasia"} {"id":"HP:0005317","name":"Increased pulmonary vascular resistance"} {"id":"HP:0005318","name":"Cerebral vasculitis"} {"id":"HP:0005320","name":"Lack of facial subcutaneous fat"} {"id":"HP:0005321","name":"Mandibulofacial dysostosis"} {"id":"HP:0005322","name":"Prominent nasal septum"} {"id":"HP:0005323","name":"Hemifacial hypertrophy"} {"id":"HP:0005324","name":"Disturbance of facial expression"} {"id":"HP:0005325","name":"Extension of hair growth on temples to lateral eyebrow"} {"id":"HP:0005326","name":"Hypoplastic philtrum"} {"id":"HP:0005327","name":"Loss of facial expression"} {"id":"HP:0005328","name":"Progeroid facial appearance"} {"id":"HP:0005329","name":"Fixed facial expression"} {"id":"HP:0005332","name":"Recurrent mandibular subluxations"} {"id":"HP:0005335","name":"Sleepy facial expression"} {"id":"HP:0005336","name":"Forehead hyperpigmentation"} {"id":"HP:0005338","name":"Sparse lateral eyebrow"} {"id":"HP:0005339","name":"Abnormality of complement system"} {"id":"HP:0005340","name":"Spastic/hyperactive bladder"} {"id":"HP:0005341","name":"Autonomic bladder dysfunction"} {"id":"HP:0005343","name":"Hypoplasia of the bladder"} {"id":"HP:0005344","name":"Abnormality of the carotid arteries"} {"id":"HP:0005345","name":"Abnormality of the vena cava"} {"id":"HP:0005346","name":"Abnormal facial expression"} {"id":"HP:0005347","name":"Cartilaginous trachea"} {"id":"HP:0005348","name":"Inspiratory stridor"} {"id":"HP:0005349","name":"Hypoplasia of the epiglottis"} {"id":"HP:0005352","name":"Severe T-cell immunodeficiency"} {"id":"HP:0005353","name":"Susceptibility to herpesvirus"} {"id":"HP:0005354","name":"Absent cellular immunity"} {"id":"HP:0005356","name":"Decreased serum complement factor I"} {"id":"HP:0005357","name":"Defective B cell differentiation"} {"id":"HP:0005359","name":"Aplasia of the thymus"} {"id":"HP:0005360","name":"Susceptibility to chickenpox"} {"id":"HP:0005363","name":"Partial humoral immunodeficiency"} {"id":"HP:0005364","name":"Severe viral infections"} {"id":"HP:0005365","name":"Severe B lymphocytopenia"} {"id":"HP:0005366","name":"Recurrent streptococcus pneumoniae infections"} {"id":"HP:0005368","name":"Abnormality of humoral immunity"} {"id":"HP:0005369","name":"Decreased serum complement factor H"} {"id":"HP:0005372","name":"Abnormality of B cell physiology"} {"id":"HP:0005374","name":"Cellular immunodeficiency"} {"id":"HP:0005375","name":"Partial cellular immunodeficiency"} {"id":"HP:0005376","name":"Recurrent Haemophilus influenzae infections"} {"id":"HP:0005379","name":"Severe T lymphocytopenia"} {"id":"HP:0005381","name":"Recurrent meningococcal disease"} {"id":"HP:0005384","name":"Defective B cell activation"} {"id":"HP:0005386","name":"Recurrent protozoan infections"} {"id":"HP:0005387","name":"Combined immunodeficiency"} {"id":"HP:0005389","name":"Depletion of components of the alternative complement pathway"} {"id":"HP:0005390","name":"Recurrent opportunistic infections"} {"id":"HP:0005396","name":"Susceptibility to coronavirus 229e"} {"id":"HP:0005397","name":"Exaggerated cellular immune processes"} {"id":"HP:0005400","name":"Reduction of neutrophil motility"} {"id":"HP:0005401","name":"Recurrent candida infections"} {"id":"HP:0005402","name":"Primary T-lymphocyte immune abnormalities"} {"id":"HP:0005403","name":"T lymphocytopenia"} {"id":"HP:0005404","name":"Increase in B cell number"} {"id":"HP:0005406","name":"Recurrent bacterial skin infections"} {"id":"HP:0005407","name":"Decreased number of CD4+ T cells"} {"id":"HP:0005409","name":"Markedly reduced T cell function"} {"id":"HP:0005411","name":"Chronic intestinal candidiasis"} {"id":"HP:0005413","name":"Increased alpha-globulin"} {"id":"HP:0005415","name":"Decreased number of CD8+ T cells"} {"id":"HP:0005416","name":"Decreased serum complement factor B"} {"id":"HP:0005419","name":"Decreased T cell activation"} {"id":"HP:0005420","name":"Recurrent gram-negative bacterial infections"} {"id":"HP:0005421","name":"Decreased serum complement C3"} {"id":"HP:0005422","name":"Absence of CD8+ T cells"} {"id":"HP:0005423","name":"Dysfunctional alternative complement pathway"} {"id":"HP:0005424","name":"Absent specific antibody response"} {"id":"HP:0005425","name":"Recurrent sinopulmonary infections"} {"id":"HP:0005428","name":"Severe recurrent varicella"} {"id":"HP:0005429","name":"Recurrent systemic pyogenic infections"} {"id":"HP:0005430","name":"Recurrent Neisserial infections"} {"id":"HP:0005432","name":"Transient hypogammaglobulinemia of infancy"} {"id":"HP:0005435","name":"Impaired T cell function"} {"id":"HP:0005437","name":"Recurrent infections in infancy and early childhood"} {"id":"HP:0005439","name":"Maxillozygomatic hypoplasia"} {"id":"HP:0005441","name":"Sclerotic cranial sutures"} {"id":"HP:0005442","name":"Widely patent coronal suture"} {"id":"HP:0005445","name":"Widened posterior fossa"} {"id":"HP:0005446","name":"Obtuse angle of mandible"} {"id":"HP:0005449","name":"Bridged sella turcica"} {"id":"HP:0005450","name":"Calvarial osteosclerosis"} {"id":"HP:0005451","name":"Decreased cranial base ossification"} {"id":"HP:0005452","name":"Obliteration of frontal sinuses"} {"id":"HP:0005453","name":"Absent/hypoplastic paranasal sinuses"} {"id":"HP:0005456","name":"Absent ethmoidal sinuses"} {"id":"HP:0005458","name":"Premature closure of fontanelles"} {"id":"HP:0005461","name":"Craniofacial disproportion"} {"id":"HP:0005462","name":"Calcification of falx cerebri"} {"id":"HP:0005463","name":"Elongated sella turcica"} {"id":"HP:0005464","name":"Craniofacial osteosclerosis"} {"id":"HP:0005465","name":"Facial hyperostosis"} {"id":"HP:0005466","name":"Frontal bone hypoplasia"} {"id":"HP:0005469","name":"Flat occiput"} {"id":"HP:0005472","name":"Orbital craniosynostosis"} {"id":"HP:0005473","name":"Fusion of middle ear ossicles"} {"id":"HP:0005474","name":"Decreased calvarial ossification"} {"id":"HP:0005476","name":"Widely patent sagittal suture"} {"id":"HP:0005477","name":"Progressive sclerosis of skull base"} {"id":"HP:0005478","name":"Prominent frontal sinuses"} {"id":"HP:0005479","name":"IgE deficiency"} {"id":"HP:0005482","name":"Abnormality of the alternate complement pathway"} {"id":"HP:0005483","name":"Abnormality of the epiglottis"} {"id":"HP:0005484","name":"Postnatal microcephaly"} {"id":"HP:0005486","name":"Small fontanelle"} {"id":"HP:0005487","name":"Prominent metopic ridge"} {"id":"HP:0005490","name":"Postnatal macrocephaly"} {"id":"HP:0005494","name":"Premature posterior fontanelle closure"} {"id":"HP:0005495","name":"Metopic suture patent to nasal root"} {"id":"HP:0005498","name":"Midline skin dimples over anterior/posterior fontanelles"} {"id":"HP:0005502","name":"Increased red cell osmotic fragility"} {"id":"HP:0005505","name":"Refractory anemia"} {"id":"HP:0005506","name":"Chronic myelogenous leukemia"} {"id":"HP:0005507","name":"Hemoglobin Barts"} {"id":"HP:0005508","name":"Waldenstrom macroglobulinemia"} {"id":"HP:0005510","name":"Transient erythroblastopenia"} {"id":"HP:0005511","name":"Heinz body anemia"} {"id":"HP:0005512","name":"Impaired neutrophil killing of staphylococci"} {"id":"HP:0005513","name":"Increased megakaryocyte count"} {"id":"HP:0005517","name":"T-cell lymphoma/leukemia"} {"id":"HP:0005518","name":"Erythrocyte macrocytosis"} {"id":"HP:0005520","name":"Chronic disseminated intravascular coagulation"} {"id":"HP:0005521","name":"Disseminated intravascular coagulation"} {"id":"HP:0005522","name":"Pyridoxine-responsive sideroblastic anemia"} {"id":"HP:0005523","name":"Lymphoproliferative disorder"} {"id":"HP:0005524","name":"Macrocytic hemolytic disease"} {"id":"HP:0005525","name":"Spontaneous hemolytic crises"} {"id":"HP:0005526","name":"Lymphoid leukemia"} {"id":"HP:0005527","name":"Reduced kininogen activity"} {"id":"HP:0005528","name":"Bone marrow hypocellularity"} {"id":"HP:0005531","name":"Biphenotypic acute leukaemia"} {"id":"HP:0005532","name":"Macrocytic dyserythropoietic anemia"} {"id":"HP:0005534","name":"Transient myeloproliferative syndrome"} {"id":"HP:0005535","name":"Exercise-induced hemolysis"} {"id":"HP:0005537","name":"Decreased mean platelet volume"} {"id":"HP:0005539","name":"T-cell chronic lymphocytic lymphoma/leukemia"} {"id":"HP:0005540","name":"Red blood cell keratocytosis"} {"id":"HP:0005541","name":"Congenital agranulocytosis"} {"id":"HP:0005542","name":"Prolonged whole-blood clotting time"} {"id":"HP:0005543","name":"Reduced protein C activity"} {"id":"HP:0005546","name":"Increased red cell osmotic resistance"} {"id":"HP:0005547","name":"Myeloproliferative disorder"} {"id":"HP:0005548","name":"Megakaryocytopenia"} {"id":"HP:0005549","name":"Congenital neutropenia"} {"id":"HP:0005550","name":"Chronic lymphatic leukemia"} {"id":"HP:0005556","name":"Abnormality of the metopic suture"} {"id":"HP:0005557","name":"Abnormality of the zygomatic arch"} {"id":"HP:0005558","name":"Chronic leukemia"} {"id":"HP:0005559","name":"Abnormality of the kinin-kallikrein system"} {"id":"HP:0005560","name":"Imbalanced hemoglobin synthesis"} {"id":"HP:0005561","name":"Abnormality of bone marrow cell morphology"} {"id":"HP:0005562","name":"Multiple renal cysts"} {"id":"HP:0005563","name":"Decreased numbers of nephrons"} {"id":"HP:0005564","name":"Absence of renal corticomedullary differentiation"} {"id":"HP:0005565","name":"Reduced renal corticomedullary differentiation"} {"id":"HP:0005567","name":"Renal magnesium wasting"} {"id":"HP:0005571","name":"Increased renal tubular phosphate reabsorption"} {"id":"HP:0005572","name":"Decreased renal tubular phosphate excretion"} {"id":"HP:0005574","name":"Non-acidotic proximal tubulopathy"} {"id":"HP:0005575","name":"Hemolytic-uremic syndrome"} {"id":"HP:0005576","name":"Tubulointerstitial fibrosis"} {"id":"HP:0005579","name":"Impaired reabsorption of chloride"} {"id":"HP:0005580","name":"Duplication of renal pelvis"} {"id":"HP:0005583","name":"Tubular basement membrane disintegration"} {"id":"HP:0005584","name":"Renal cell carcinoma"} {"id":"HP:0005585","name":"Spotty hyperpigmentation"} {"id":"HP:0005586","name":"Hyperpigmentation in sun-exposed areas"} {"id":"HP:0005587","name":"Profuse pigmented skin lesions"} {"id":"HP:0005588","name":"Patchy palmoplantar keratoderma"} {"id":"HP:0005590","name":"Spotty hypopigmentation"} {"id":"HP:0005592","name":"Giant melanosomes in melanocytes"} {"id":"HP:0005593","name":"Macular hypopigmented whorls, streaks, and patches"} {"id":"HP:0005595","name":"Generalized hyperkeratosis"} {"id":"HP:0005597","name":"Congenital alopecia totalis"} {"id":"HP:0005598","name":"Facial telangiectasia in butterfly midface distribution"} {"id":"HP:0005599","name":"Hypopigmentation of hair"} {"id":"HP:0005600","name":"Congenital giant melanocytic nevus"} {"id":"HP:0005602","name":"Progressive vitiligo"} {"id":"HP:0005603","name":"Numerous congenital melanocytic nevi"} {"id":"HP:0005605","name":"Large cafe-au-lait macules with irregular margins"} {"id":"HP:0005606","name":"Hyperpigmented nevi and streak"} {"id":"HP:0005607","name":"Abnormality of the tracheobronchial system"} {"id":"HP:0005608","name":"Bilobate gallbladder"} {"id":"HP:0005609","name":"Gallbladder dysfunction"} {"id":"HP:0005612","name":"Arthrogryposis-like hand anomaly"} {"id":"HP:0005613","name":"Aplasia/hypoplasia of the femur"} {"id":"HP:0005616","name":"Accelerated skeletal maturation"} {"id":"HP:0005617","name":"Bilateral camptodactyly"} {"id":"HP:0005619","name":"Thoracolumbar kyphosis"} {"id":"HP:0005620","name":"Hypermobility of interphalangeal joints"} {"id":"HP:0005621","name":"Trapezoidal shaped vertebral bodies"} {"id":"HP:0005622","name":"Broad long bones"} {"id":"HP:0005623","name":"Absent ossification of calvaria"} {"id":"HP:0005625","name":"Osteoporosis of vertebrae"} {"id":"HP:0005626","name":"Posterior fusion of lumbosacral vertebrae"} {"id":"HP:0005627","name":"Type D brachydactyly"} {"id":"HP:0005632","name":"Absent forearm"} {"id":"HP:0005638","name":"Decreased anterioposterior diameter of lumbar vertebral bodies"} {"id":"HP:0005639","name":"Hyperextensible hand joints"} {"id":"HP:0005640","name":"Abnormal vertebral segmentation and fusion"} {"id":"HP:0005643","name":"Short 3rd toe"} {"id":"HP:0005645","name":"Intervertebral disk calcification"} {"id":"HP:0005648","name":"Bilateral ulnar hypoplasia"} {"id":"HP:0005650","name":"Cutaneous syndactyly between fingers 2 and 5"} {"id":"HP:0005652","name":"Cortical sclerosis"} {"id":"HP:0005653","name":"Moderate generalized osteoporosis"} {"id":"HP:0005655","name":"Multiple digital exostoses"} {"id":"HP:0005656","name":"Positional foot deformity"} {"id":"HP:0005659","name":"Thoracic kyphoscoliosis"} {"id":"HP:0005661","name":"Salmonella osteomyelitis"} {"id":"HP:0005665","name":"Massively thickened long bone cortices"} {"id":"HP:0005667","name":"Os odontoideum"} {"id":"HP:0005671","name":"Bilateral intracranial calcifications"} {"id":"HP:0005676","name":"Rudimentary postaxial polydactyly of hands"} {"id":"HP:0005678","name":"Anterior atlanto-occipital dislocation"} {"id":"HP:0005679","name":"Dupuytren contracture"} {"id":"HP:0005680","name":"Tongue-like lumbar vertebral deformities"} {"id":"HP:0005681","name":"Juvenile rheumatoid arthritis"} {"id":"HP:0005682","name":"Talocalcaneal synostosis"} {"id":"HP:0005684","name":"Distal arthrogryposis"} {"id":"HP:0005686","name":"Patchy osteosclerosis"} {"id":"HP:0005687","name":"Deformed humeral heads"} {"id":"HP:0005688","name":"Dysplastic distal thumb phalanges with a central hole"} {"id":"HP:0005689","name":"Dermatoglyphic ridges abnormal"} {"id":"HP:0005692","name":"Joint hyperflexibility"} {"id":"HP:0005694","name":"Partial fusion of proximal row of carpal bones"} {"id":"HP:0005696","name":"Postaxial polydactyly type A"} {"id":"HP:0005700","name":"Increased bone density with cystic changes"} {"id":"HP:0005701","name":"Multiple enchondromatosis"} {"id":"HP:0005707","name":"Bilateral triphalangeal thumbs"} {"id":"HP:0005709","name":"2-3 toe cutaneous syndactyly"} {"id":"HP:0005715","name":"Flattened knee epiphyses"} {"id":"HP:0005716","name":"Lethal skeletal dysplasia"} {"id":"HP:0005720","name":"Shortening of all metacarpals"} {"id":"HP:0005722","name":"Hyperextensible thumb"} {"id":"HP:0005723","name":"Shoe-shaped sella turcica"} {"id":"HP:0005725","name":"Nonopposable triphalangeal thumb"} {"id":"HP:0005726","name":"Thumbs hypoplastic with bulbous tips"} {"id":"HP:0005731","name":"Cortical irregularity"} {"id":"HP:0005733","name":"Spinal stenosis with reduced interpedicular distance"} {"id":"HP:0005736","name":"Short tibia"} {"id":"HP:0005739","name":"Posterior subluxation of radial head"} {"id":"HP:0005743","name":"Avascular necrosis of the capital femoral epiphysis"} {"id":"HP:0005744","name":"Generalized osteoporosis with pathologic fractures"} {"id":"HP:0005745","name":"Congenital foot contractures"} {"id":"HP:0005746","name":"Osteosclerosis of the base of the skull"} {"id":"HP:0005747","name":"Easily subluxated first metacarpophalangeal joints"} {"id":"HP:0005750","name":"Contractures of the joints of the lower limbs"} {"id":"HP:0005752","name":"Flattened moderately deformed vertebrae"} {"id":"HP:0005756","name":"Neonatal epiphyseal stippling"} {"id":"HP:0005758","name":"Basilar impression"} {"id":"HP:0005759","name":"Small flat posterior fossa"} {"id":"HP:0005764","name":"Polyarticular arthritis"} {"id":"HP:0005765","name":"Sacral meningocele"} {"id":"HP:0005766","name":"Disproportionate shortening of the tibia"} {"id":"HP:0005767","name":"1-2 toe complete cutaneous syndactyly"} {"id":"HP:0005768","name":"2-4 toe cutaneous syndactyly"} {"id":"HP:0005769","name":"Fifth finger distal phalanx clinodactyly"} {"id":"HP:0005772","name":"Aplasia/Hypoplasia of the tibia"} {"id":"HP:0005773","name":"Short forearm"} {"id":"HP:0005775","name":"Multiple skeletal anomalies"} {"id":"HP:0005776","name":"Carpal bone malsegmentation"} {"id":"HP:0005780","name":"Absent fourth finger distal interphalangeal crease"} {"id":"HP:0005781","name":"Contractures of the large joints"} {"id":"HP:0005787","name":"Lumbar platyspondyly"} {"id":"HP:0005788","name":"Abnormal cervical myelogram"} {"id":"HP:0005789","name":"Generalized osteosclerosis"} {"id":"HP:0005790","name":"Short mandibular condyles"} {"id":"HP:0005791","name":"Cortical thickening of long bone diaphyses"} {"id":"HP:0005792","name":"Short humerus"} {"id":"HP:0005793","name":"Shortening of all distal phalanges of the toes"} {"id":"HP:0005794","name":"Arterial disease of legs"} {"id":"HP:0005798","name":"Posterior radial head dislocation"} {"id":"HP:0005802","name":"Coalescence of tarsal bones"} {"id":"HP:0005807","name":"Absent distal phalanges"} {"id":"HP:0005815","name":"Supernumerary ribs"} {"id":"HP:0005817","name":"Postaxial polysyndactyly of foot"} {"id":"HP:0005819","name":"Short middle phalanx of finger"} {"id":"HP:0005820","name":"Superior rib anomalies"} {"id":"HP:0005824","name":"Clinodactyly of the 2nd toe"} {"id":"HP:0005825","name":"Mixed sclerosis of humeral metaphyses"} {"id":"HP:0005828","name":"Transient pulmonary infiltrates"} {"id":"HP:0005829","name":"Maldevelopment of radioulnar joint"} {"id":"HP:0005830","name":"Flexion contracture of toe"} {"id":"HP:0005831","name":"Type B brachydactyly"} {"id":"HP:0005832","name":"Dysharmonic delayed bone age"} {"id":"HP:0005833","name":"Joint swelling onset late infancy"} {"id":"HP:0005841","name":"Calcific stippling of infantile cartilaginous skeleton"} {"id":"HP:0005844","name":"Rounded middle phalanx of finger"} {"id":"HP:0005848","name":"Bifid thumb distal phalanx"} {"id":"HP:0005849","name":"Diffuse cerebral calcification"} {"id":"HP:0005850","name":"Congenital talipes calcaneovalgus"} {"id":"HP:0005852","name":"Limited elbow extension and supination"} {"id":"HP:0005853","name":"Congenital foot contraction deformities"} {"id":"HP:0005855","name":"Multiple prenatal fractures"} {"id":"HP:0005856","name":"Ulnar radial head dislocation"} {"id":"HP:0005857","name":"Cervical spina bifida"} {"id":"HP:0005863","name":"Type E brachydactyly"} {"id":"HP:0005864","name":"Pseudoarthrosis"} {"id":"HP:0005866","name":"Opposable triphalangeal thumb"} {"id":"HP:0005867","name":"Fused fourth and fifth metacarpals"} {"id":"HP:0005868","name":"Metaphyseal enchondromatosis"} {"id":"HP:0005871","name":"Metaphyseal chondrodysplasia"} {"id":"HP:0005872","name":"Brachytelomesophalangy"} {"id":"HP:0005873","name":"Polysyndactyly of hallux"} {"id":"HP:0005875","name":"Increased dermatoglyphic whorls"} {"id":"HP:0005876","name":"Progressive flexion contractures"} {"id":"HP:0005877","name":"Multiple small vertebral fractures"} {"id":"HP:0005878","name":"Enlarged sagittal diameter of the cervical canal"} {"id":"HP:0005879","name":"Congenital finger flexion contractures"} {"id":"HP:0005880","name":"Metacarpophalangeal synostosis"} {"id":"HP:0005881","name":"Spinal instability"} {"id":"HP:0005882","name":"Dermatoglyphic variants"} {"id":"HP:0005885","name":"Absent ossification of cervical vertebral bodies"} {"id":"HP:0005886","name":"Aphalangy of the hands"} {"id":"HP:0005890","name":"Hyperostosis cranialis interna"} {"id":"HP:0005891","name":"Progressive forearm bowing"} {"id":"HP:0005892","name":"Proximal tibial and fibular fusion"} {"id":"HP:0005894","name":"Double first metacarpals"} {"id":"HP:0005895","name":"Radial deviation of thumb terminal phalanx"} {"id":"HP:0005897","name":"Severe osteoporosis"} {"id":"HP:0005899","name":"Metaphyseal dysostosis"} {"id":"HP:0005900","name":"Fifth metacarpal with ulnar notch"} {"id":"HP:0005901","name":"Chronic recurrent multifocal osteomyelitis"} {"id":"HP:0005905","name":"Abnormal cervical curvature"} {"id":"HP:0005906","name":"Delayed pneumatization of the mastoid process"} {"id":"HP:0005910","name":"Rhomboid or triangular shaped 5th finger middle phalanx"} {"id":"HP:0005912","name":"Biliary atresia"} {"id":"HP:0005913","name":"Abnormality of metacarpal epiphyses"} {"id":"HP:0005914","name":"Aplasia/Hypoplasia involving the metacarpal bones"} {"id":"HP:0005916","name":"Abnormal metacarpal morphology"} {"id":"HP:0005917","name":"Supernumerary metacarpal bones"} {"id":"HP:0005918","name":"Abnormality of phalanx of finger"} {"id":"HP:0005920","name":"Abnormality of the epiphyses of the phalanges of the hand"} {"id":"HP:0005921","name":"Abnormal ossification of hand bones"} {"id":"HP:0005922","name":"Abnormal hand morphology"} {"id":"HP:0005923","name":"Abnormalities of the metaphyses of the hand"} {"id":"HP:0005924","name":"Abnormality of the epiphyses of the hand"} {"id":"HP:0005925","name":"Abnormalities of the diaphyses of the hand"} {"id":"HP:0005926","name":"Abnormalities of the cortex of hand bones"} {"id":"HP:0005927","name":"Aplasia/hypoplasia involving bones of the hand"} {"id":"HP:0005928","name":"Synostosis involving the fibula"} {"id":"HP:0005929","name":"Synostosis involving the tibia"} {"id":"HP:0005930","name":"Abnormality of epiphysis morphology"} {"id":"HP:0005932","name":"Abnormal renal corticomedullary differentiation"} {"id":"HP:0005934","name":"Imperfect vocal cord adduction"} {"id":"HP:0005938","name":"Abnormal respiratory motile cilium morphology"} {"id":"HP:0005939","name":"Multiple bilateral pneumothoraces"} {"id":"HP:0005941","name":"Intermittent hyperpnea at rest"} {"id":"HP:0005942","name":"Desquamative interstitial pneumonitis"} {"id":"HP:0005943","name":"Respiratory arrest"} {"id":"HP:0005944","name":"Bilateral lung agenesis"} {"id":"HP:0005945","name":"Laryngeal obstruction"} {"id":"HP:0005946","name":"Ventilator dependence with inability to wean"} {"id":"HP:0005947","name":"Decreased sensitivity to hypoxemia"} {"id":"HP:0005948","name":"Cystic lung disease"} {"id":"HP:0005949","name":"Apneic episodes in infancy"} {"id":"HP:0005950","name":"Laryngeal web"} {"id":"HP:0005951","name":"Progressive inspiratory stridor"} {"id":"HP:0005952","name":"Decreased pulmonary function"} {"id":"HP:0005954","name":"Pulmonary capillary hemangiomatosis"} {"id":"HP:0005956","name":"Anteroposteriorly shortened larynx"} {"id":"HP:0005957","name":"Breathing dysregulation"} {"id":"HP:0005959","name":"Impaired gluconeogenesis"} {"id":"HP:0005961","name":"Hypoargininemia"} {"id":"HP:0005964","name":"Intermittent hypothermia"} {"id":"HP:0005967","name":"Mixed respiratory and metabolic acidosis"} {"id":"HP:0005968","name":"Temperature instability"} {"id":"HP:0005972","name":"Respiratory acidosis"} {"id":"HP:0005973","name":"Fructose intolerance"} {"id":"HP:0005974","name":"Episodic ketoacidosis"} {"id":"HP:0005976","name":"Hyperkalemic metabolic acidosis"} {"id":"HP:0005977","name":"Hypochloremic metabolic alkalosis"} {"id":"HP:0005978","name":"Type II diabetes mellitus"} {"id":"HP:0005979","name":"Metabolic ketoacidosis"} {"id":"HP:0005982","name":"Reduced phenylalanine hydroxylase activity"} {"id":"HP:0005984","name":"Elevated maternal serum alpha-fetoprotein"} {"id":"HP:0005986","name":"Limitation of neck motion"} {"id":"HP:0005987","name":"Multinodular goiter"} {"id":"HP:0005988","name":"Congenital muscular torticollis"} {"id":"HP:0005989","name":"Redundant neck skin"} {"id":"HP:0005990","name":"Thyroid hypoplasia"} {"id":"HP:0005991","name":"Limited neck flexion"} {"id":"HP:0005994","name":"Nodular goiter"} {"id":"HP:0005995","name":"Decreased adipose tissue around neck"} {"id":"HP:0005997","name":"Restricted neck movement due to contractures"} {"id":"HP:0005999","name":"Ureteral atresia"} {"id":"HP:0006000","name":"Ureteral obstruction"} {"id":"HP:0006006","name":"Hypotrophy of the small hand muscles"} {"id":"HP:0006008","name":"Unilateral brachydactyly"} {"id":"HP:0006009","name":"Broad phalanx"} {"id":"HP:0006011","name":"Cuboidal metacarpal"} {"id":"HP:0006012","name":"Widened metacarpal shaft"} {"id":"HP:0006014","name":"Abnormally shaped carpal bones"} {"id":"HP:0006016","name":"Delayed phalangeal epiphyseal ossification"} {"id":"HP:0006019","name":"Reduced proximal interphalangeal joint space"} {"id":"HP:0006026","name":"Rounded epiphyses"} {"id":"HP:0006028","name":"Metaphyseal cupping of metacarpals"} {"id":"HP:0006035","name":"Cone-shaped epiphyses of phalanges 2 to 5"} {"id":"HP:0006040","name":"Long second metacarpal"} {"id":"HP:0006042","name":"Y-shaped metacarpals"} {"id":"HP:0006045","name":"Short pointed phalanges"} {"id":"HP:0006048","name":"Distal widening of metacarpals"} {"id":"HP:0006051","name":"Metacarpal periosteal thickening"} {"id":"HP:0006055","name":"Ulnar deviated club hands"} {"id":"HP:0006059","name":"Cone-shaped metacarpal epiphyses"} {"id":"HP:0006060","name":"Tombstone-shaped proximal phalanges"} {"id":"HP:0006064","name":"Limited interphalangeal movement"} {"id":"HP:0006067","name":"Multiple carpal ossification centers"} {"id":"HP:0006069","name":"Severe carpal ossification delay"} {"id":"HP:0006070","name":"Metacarpophalangeal joint contracture"} {"id":"HP:0006077","name":"Absent proximal finger flexion creases"} {"id":"HP:0006086","name":"Thin metacarpal cortices"} {"id":"HP:0006088","name":"1-5 finger complete cutaneous syndactyly"} {"id":"HP:0006089","name":"Palmar hyperhidrosis"} {"id":"HP:0006092","name":"Malaligned carpal bone"} {"id":"HP:0006094","name":"Finger joint hypermobility"} {"id":"HP:0006095","name":"Wide tufts of distal phalanges"} {"id":"HP:0006097","name":"3-4 finger syndactyly"} {"id":"HP:0006099","name":"Metacarpophalangeal joint hyperextensibility"} {"id":"HP:0006101","name":"Finger syndactyly"} {"id":"HP:0006106","name":"Absent trapezoid bone"} {"id":"HP:0006107","name":"Fingerpad telangiectases"} {"id":"HP:0006108","name":"Tapered metacarpals"} {"id":"HP:0006109","name":"Absent phalangeal crease"} {"id":"HP:0006110","name":"Shortening of all middle phalanges of the fingers"} {"id":"HP:0006112","name":"Expanded phalanges with widened medullary cavities"} {"id":"HP:0006114","name":"Multiple palmar creases"} {"id":"HP:0006118","name":"Shortening of all distal phalanges of the fingers"} {"id":"HP:0006119","name":"Proximal tapering of metacarpals"} {"id":"HP:0006121","name":"Acral ulceration leading to autoamputation of digits"} {"id":"HP:0006127","name":"Long proximal phalanx of finger"} {"id":"HP:0006129","name":"Drumstick terminal phalanges"} {"id":"HP:0006134","name":"Enlarged metacarpal epiphyses"} {"id":"HP:0006135","name":"Decreased finger mobility"} {"id":"HP:0006136","name":"Bilateral postaxial polydactyly"} {"id":"HP:0006140","name":"Premature fusion of phalangeal epiphyses"} {"id":"HP:0006143","name":"Abnormal finger flexion creases"} {"id":"HP:0006144","name":"Shortening of all proximal phalanges of the fingers"} {"id":"HP:0006145","name":"Central Y-shaped metacarpal"} {"id":"HP:0006146","name":"Broad metacarpal epiphyses"} {"id":"HP:0006147","name":"Progressive fusion 2nd-5th pip joints"} {"id":"HP:0006149","name":"Increased laxity of fingers"} {"id":"HP:0006150","name":"Swan neck-like deformities of the fingers"} {"id":"HP:0006152","name":"Proximal symphalangism (hands)"} {"id":"HP:0006153","name":"Disharmonious carpal bone"} {"id":"HP:0006155","name":"Long phalanx of finger"} {"id":"HP:0006156","name":"Ulnar deviation of thumb"} {"id":"HP:0006157","name":"Prominent palmar flexion creases"} {"id":"HP:0006158","name":"Finger joint hyperextensibility"} {"id":"HP:0006159","name":"Mesoaxial hand polydactyly"} {"id":"HP:0006160","name":"Irregular metacarpals"} {"id":"HP:0006161","name":"Short metacarpals with rounded proximal ends"} {"id":"HP:0006162","name":"Soft tissue swelling of interphalangeal joints"} {"id":"HP:0006163","name":"Enlarged metacarpophalangeal joints"} {"id":"HP:0006165","name":"Proportionate shortening of all digits"} {"id":"HP:0006166","name":"Tubular metacarpal bones"} {"id":"HP:0006167","name":"Prominent proximal interphalangeal joints"} {"id":"HP:0006169","name":"Decreased mobility 3rd-5th fingers"} {"id":"HP:0006170","name":"Chess-pawn distal phalanges"} {"id":"HP:0006172","name":"Flattened, squared-off epiphyses of tubular bones"} {"id":"HP:0006174","name":"Metacarpal diaphyseal endosteal sclerosis"} {"id":"HP:0006175","name":"Proximal phalangeal periosteal thickening"} {"id":"HP:0006176","name":"Two carpal ossification centers present at birth"} {"id":"HP:0006179","name":"Pseudoepiphyses of second metacarpal"} {"id":"HP:0006180","name":"Crowded carpal bones"} {"id":"HP:0006184","name":"Decreased palmar creases"} {"id":"HP:0006185","name":"Enlarged proximal interphalangeal joints"} {"id":"HP:0006187","name":"Fusion of midphalangeal joints"} {"id":"HP:0006189","name":"Prominent interdigital folds"} {"id":"HP:0006190","name":"Radially deviated wrists"} {"id":"HP:0006191","name":"Deep palmar crease"} {"id":"HP:0006192","name":"Tapered phalanx of finger"} {"id":"HP:0006193","name":"Thimble-shaped middle phalanges of hand"} {"id":"HP:0006200","name":"Widened distal phalanges"} {"id":"HP:0006201","name":"Hypermobility of distal interphalangeal joints"} {"id":"HP:0006202","name":"Osteolysis of scaphoids"} {"id":"HP:0006203","name":"Decreased movement range in interphalangeal joints"} {"id":"HP:0006205","name":"Irregular phalanges"} {"id":"HP:0006206","name":"Hypersegmentation of proximal phalanx of second finger"} {"id":"HP:0006207","name":"Partial fusion of carpals"} {"id":"HP:0006208","name":"Metaphyseal cupping of proximal phalanges"} {"id":"HP:0006209","name":"Partial-complete absence of 5th phalanges"} {"id":"HP:0006210","name":"Postaxial oligodactyly"} {"id":"HP:0006213","name":"Thin proximal phalanges with broad epiphyses of the hand"} {"id":"HP:0006216","name":"Single interphalangeal crease of fifth finger"} {"id":"HP:0006217","name":"Limited mobility of proximal interphalangeal joint"} {"id":"HP:0006224","name":"Tapering pointed ends of distal finger phalanges"} {"id":"HP:0006226","name":"Osteoarthritis of the first carpometacarpal joint"} {"id":"HP:0006228","name":"Valgus hand deformity"} {"id":"HP:0006230","name":"Unilateral oligodactyly"} {"id":"HP:0006232","name":"Expanded metacarpals with widened medullary cavities"} {"id":"HP:0006233","name":"Osteoarthritis of the distal interphalangeal joint"} {"id":"HP:0006234","name":"Osteolysis involving tarsal bones"} {"id":"HP:0006236","name":"Slender metacarpals"} {"id":"HP:0006237","name":"Prominent interphalangeal joints"} {"id":"HP:0006239","name":"Shortening of all middle phalanges of the toes"} {"id":"HP:0006243","name":"Phalangeal dislocation"} {"id":"HP:0006247","name":"Enlarged interphalangeal joints"} {"id":"HP:0006248","name":"Limited wrist movement"} {"id":"HP:0006251","name":"Limited wrist extension"} {"id":"HP:0006252","name":"Interphalangeal joint erosions"} {"id":"HP:0006253","name":"Swelling of proximal interphalangeal joints"} {"id":"HP:0006254","name":"Elevated alpha-fetoprotein"} {"id":"HP:0006256","name":"Abnormality of hand joint mobility"} {"id":"HP:0006257","name":"Abnormality of carpal bone ossification"} {"id":"HP:0006261","name":"Abnormality of phalangeal joints of the hand"} {"id":"HP:0006262","name":"Aplasia/Hypoplasia of the 5th finger"} {"id":"HP:0006263","name":"Abnormality of the epiphyses of the 2nd finger"} {"id":"HP:0006264","name":"Aplasia/Hypoplasia of the 2nd finger"} {"id":"HP:0006265","name":"Aplasia/Hypoplasia of fingers"} {"id":"HP:0006266","name":"Small placenta"} {"id":"HP:0006267","name":"Large placenta"} {"id":"HP:0006268","name":"Fluctuating splenomegaly"} {"id":"HP:0006270","name":"Hypoplastic spleen"} {"id":"HP:0006273","name":"Pancreatic lymphangiectasis"} {"id":"HP:0006274","name":"Reduced pancreatic beta cells"} {"id":"HP:0006276","name":"Hyperechogenic pancreas"} {"id":"HP:0006277","name":"Pancreatic hyperplasia"} {"id":"HP:0006278","name":"Ectopic pancreatic tissue"} {"id":"HP:0006279","name":"Beta-cell dysfunction"} {"id":"HP:0006280","name":"Chronic pancreatitis"} {"id":"HP:0006282","name":"Generalized hypoplasia of dental enamel"} {"id":"HP:0006283","name":"Multiple unerupted teeth"} {"id":"HP:0006285","name":"Hypomineralization of enamel"} {"id":"HP:0006286","name":"Yellow-brown discoloration of the teeth"} {"id":"HP:0006288","name":"Advanced eruption of teeth"} {"id":"HP:0006289","name":"Agenesis of central incisor"} {"id":"HP:0006290","name":"Discolored lateral incisors"} {"id":"HP:0006291","name":"Marked delay in eruption of permanent teeth"} {"id":"HP:0006292","name":"Abnormality of dental eruption"} {"id":"HP:0006293","name":"Agenesis of maxillary central incisor"} {"id":"HP:0006297","name":"Hypoplasia of dental enamel"} {"id":"HP:0006298","name":"Prolonged bleeding after dental extraction"} {"id":"HP:0006302","name":"Dagger-shaped pulp calcifications"} {"id":"HP:0006304","name":"Widely-spaced incisors"} {"id":"HP:0006308","name":"Atrophy of alveolar ridges"} {"id":"HP:0006311","name":"Generalized microdontia"} {"id":"HP:0006313","name":"Widely spaced primary teeth"} {"id":"HP:0006315","name":"Single median maxillary incisor"} {"id":"HP:0006316","name":"Irregularly spaced teeth"} {"id":"HP:0006321","name":"Multiple non-erupting secondary teeth"} {"id":"HP:0006323","name":"Premature loss of primary teeth"} {"id":"HP:0006326","name":"Buried teeth encased in mucopolysaccharide"} {"id":"HP:0006329","name":"Alveolar process hypoplasia"} {"id":"HP:0006330","name":"Rotated maxillary central incisors"} {"id":"HP:0006332","name":"Supernumerary maxillary incisor"} {"id":"HP:0006333","name":"Crowded maxillary incisors"} {"id":"HP:0006334","name":"Hypoplasia of the primary teeth"} {"id":"HP:0006335","name":"Persistence of primary teeth"} {"id":"HP:0006336","name":"Short dental roots"} {"id":"HP:0006337","name":"Premature eruption of permanent teeth"} {"id":"HP:0006338","name":"Malformation of mandibular premolar"} {"id":"HP:0006339","name":"Conical mandibular incisor"} {"id":"HP:0006342","name":"Peg-shaped maxillary lateral incisors"} {"id":"HP:0006344","name":"Abnormality of primary molar morphology"} {"id":"HP:0006346","name":"Screwdriver-shaped incisors"} {"id":"HP:0006347","name":"Microdontia of primary teeth"} {"id":"HP:0006349","name":"Agenesis of permanent teeth"} {"id":"HP:0006350","name":"Obliteration of the pulp chamber"} {"id":"HP:0006352","name":"Failure of eruption of permanent teeth"} {"id":"HP:0006353","name":"Hypoplasia of the tooth germ"} {"id":"HP:0006355","name":"Agenesis of mandibular central incisor"} {"id":"HP:0006357","name":"Premature loss of permanent teeth"} {"id":"HP:0006358","name":"Shovel-shaped maxillary central incisors"} {"id":"HP:0006361","name":"Irregular femoral epiphysis"} {"id":"HP:0006362","name":"Varus deformity of humeral neck"} {"id":"HP:0006366","name":"Adductor longus contractures"} {"id":"HP:0006367","name":"Crumpled long bones"} {"id":"HP:0006368","name":"Forearm reduction defects"} {"id":"HP:0006369","name":"Irregular patellae"} {"id":"HP:0006370","name":"Distal ulnar epiphyseal stippling"} {"id":"HP:0006371","name":"Broad long bone diaphyses"} {"id":"HP:0006375","name":"Dumbbell-shaped femur"} {"id":"HP:0006376","name":"Limited elbow flexion"} {"id":"HP:0006378","name":"Osteolysis of patellae"} {"id":"HP:0006379","name":"Proximal tibial hypopolasia"} {"id":"HP:0006380","name":"Knee flexion contracture"} {"id":"HP:0006381","name":"Rudimentary fibula"} {"id":"HP:0006383","name":"Progressive bowing of long bones"} {"id":"HP:0006384","name":"Club-shaped distal femur"} {"id":"HP:0006385","name":"Short lower limbs"} {"id":"HP:0006386","name":"Hypoplastic distal radial epiphyses"} {"id":"HP:0006387","name":"Wide distal femoral metaphysis"} {"id":"HP:0006389","name":"Limited knee flexion"} {"id":"HP:0006390","name":"Anterior tibial bowing"} {"id":"HP:0006391","name":"Overtubulated long bones"} {"id":"HP:0006392","name":"Increased density of long bones"} {"id":"HP:0006394","name":"Limited pronation/supination of forearm"} {"id":"HP:0006397","name":"Lateral displacement of patellae"} {"id":"HP:0006398","name":"Flat distal femoral epiphysis"} {"id":"HP:0006400","name":"Absent knee epiphyses"} {"id":"HP:0006402","name":"Distal shortening of limbs"} {"id":"HP:0006406","name":"Club-shaped proximal femur"} {"id":"HP:0006407","name":"Irregular distal femoral epiphysis"} {"id":"HP:0006408","name":"Distal tapering femur"} {"id":"HP:0006409","name":"Progressive leg bowing"} {"id":"HP:0006413","name":"Broad tibial metaphyses"} {"id":"HP:0006414","name":"Distal tibial bowing"} {"id":"HP:0006415","name":"Cortically dense long tubular bones"} {"id":"HP:0006417","name":"Broad femoral metaphyses"} {"id":"HP:0006420","name":"Asymmetric radial dysplasia"} {"id":"HP:0006423","name":"Peg-like central prominence of distal tibial metaphyses"} {"id":"HP:0006424","name":"Elongated radius"} {"id":"HP:0006426","name":"Rudimentary to absent tibiae"} {"id":"HP:0006429","name":"Broad femoral neck"} {"id":"HP:0006431","name":"Proximal femoral metaphyseal abnormality"} {"id":"HP:0006432","name":"Trapezoidal distal femoral condyles"} {"id":"HP:0006433","name":"Dysplastic radii"} {"id":"HP:0006434","name":"Hypoplasia of proximal radius"} {"id":"HP:0006436","name":"Shortening of the tibia"} {"id":"HP:0006437","name":"Disproportionate prominence of the femoral medial condyle"} {"id":"HP:0006438","name":"Enlargement of the distal femoral epiphysis"} {"id":"HP:0006439","name":"Radioulnar dislocation"} {"id":"HP:0006440","name":"Increased density of long bone diaphyses"} {"id":"HP:0006441","name":"Lateral humeral condyle aplasia"} {"id":"HP:0006442","name":"Hypoplasia of proximal fibula"} {"id":"HP:0006443","name":"Patellar aplasia"} {"id":"HP:0006446","name":"Dysplastic patella"} {"id":"HP:0006449","name":"Distal radial epiphyseal osteolysis"} {"id":"HP:0006450","name":"Multicentric ossification of proximal femoral epiphyses"} {"id":"HP:0006453","name":"Lateral displacement of the femoral head"} {"id":"HP:0006454","name":"Delayed patellar ossification"} {"id":"HP:0006456","name":"Irregular proximal tibial epiphyses"} {"id":"HP:0006459","name":"Dorsal subluxation of ulna"} {"id":"HP:0006460","name":"Increased laxity of ankles"} {"id":"HP:0006461","name":"Proximal femoral epiphysiolysis"} {"id":"HP:0006462","name":"Generalized bone demineralization"} {"id":"HP:0006463","name":"Rickets of the lower limbs"} {"id":"HP:0006465","name":"Periosteal thickening of long tubular bones"} {"id":"HP:0006466","name":"Ankle contracture"} {"id":"HP:0006467","name":"Limited shoulder movement"} {"id":"HP:0006470","name":"Thin long bone diaphyses"} {"id":"HP:0006471","name":"Fixed elbow flexion"} {"id":"HP:0006473","name":"Anterior bowing of long bones"} {"id":"HP:0006476","name":"Abnormality of the pancreatic islet cells"} {"id":"HP:0006477","name":"Abnormality of the alveolar ridges"} {"id":"HP:0006479","name":"Abnormality of the dental pulp"} {"id":"HP:0006480","name":"Premature loss of teeth"} {"id":"HP:0006481","name":"Abnormality of primary teeth"} {"id":"HP:0006482","name":"Abnormality of dental morphology"} {"id":"HP:0006483","name":"Abnormal number of teeth"} {"id":"HP:0006485","name":"Agenesis of incisor"} {"id":"HP:0006486","name":"Abnormality of the dental root"} {"id":"HP:0006487","name":"Bowing of the long bones"} {"id":"HP:0006488","name":"Bowing of the arm"} {"id":"HP:0006489","name":"Abnormality of the femoral metaphysis"} {"id":"HP:0006490","name":"Abnormality of lower-limb metaphyses"} {"id":"HP:0006491","name":"Abnormality of the tibial metaphysis"} {"id":"HP:0006492","name":"Aplasia/Hypoplasia of the fibula"} {"id":"HP:0006493","name":"Aplasia/hypoplasia involving bones of the lower limbs"} {"id":"HP:0006494","name":"Aplasia/Hypoplasia involving bones of the feet"} {"id":"HP:0006495","name":"Aplasia/Hypoplasia of the ulna"} {"id":"HP:0006496","name":"Aplasia/hypoplasia involving bones of the upper limbs"} {"id":"HP:0006498","name":"Aplasia/Hypoplasia of the patella"} {"id":"HP:0006499","name":"Abnormality of femoral epiphysis"} {"id":"HP:0006500","name":"Abnormality of lower limb epiphysis morphology"} {"id":"HP:0006501","name":"Aplasia/Hypoplasia of the radius"} {"id":"HP:0006502","name":"Aplasia/Hypoplasia involving the carpal bones"} {"id":"HP:0006503","name":"Aplasia/hypoplasia involving forearm bones"} {"id":"HP:0006504","name":"Anomaly of the limb diaphyses"} {"id":"HP:0006505","name":"Abnormality of limb epiphysis morphology"} {"id":"HP:0006507","name":"Aplasia/hypoplasia of the humerus"} {"id":"HP:0006508","name":"Abnormality of tibial epiphyses"} {"id":"HP:0006509","name":"Diverticulosis of trachea"} {"id":"HP:0006510","name":"Chronic obstructive pulmonary disease"} {"id":"HP:0006511","name":"Laryngeal stridor"} {"id":"HP:0006514","name":"Intraalveolar nodular calcifications"} {"id":"HP:0006515","name":"Interstitial pneumonitis"} {"id":"HP:0006516","name":"Hypersensitivity pneumonitis"} {"id":"HP:0006517","name":"Alveolar proteinosis"} {"id":"HP:0006518","name":"Pulmonary venoocclusive disease"} {"id":"HP:0006519","name":"Alveolar cell carcinoma"} {"id":"HP:0006520","name":"Progressive pulmonary function impairment"} {"id":"HP:0006521","name":"Pulmonary lymphangiectasia"} {"id":"HP:0006522","name":"Repeated pneumothoraces"} {"id":"HP:0006524","name":"Tracheobronchial leiomyomatosis"} {"id":"HP:0006525","name":"Lung segmentation defects"} {"id":"HP:0006527","name":"Lymphoid interstitial pneumonia"} {"id":"HP:0006528","name":"Chronic lung disease"} {"id":"HP:0006529","name":"Abnormal pulmonary lymphatics"} {"id":"HP:0006530","name":"Interstitial pulmonary disease"} {"id":"HP:0006531","name":"Pleural lymphangiectasia"} {"id":"HP:0006532","name":"Recurrent pneumonia"} {"id":"HP:0006533","name":"Bronchodysplasia"} {"id":"HP:0006535","name":"Recurrent intrapulmonary hemorrhage"} {"id":"HP:0006536","name":"Obstructive lung disease"} {"id":"HP:0006538","name":"Recurrent bronchopulmonary infections"} {"id":"HP:0006539","name":"Bronchial cartilage hypoplasia"} {"id":"HP:0006541","name":"Chronic obstructive airway disease from birth"} {"id":"HP:0006543","name":"Cardiorespiratory arrest"} {"id":"HP:0006544","name":"Extrapulmonary sequestrum"} {"id":"HP:0006548","name":"Pulmonary arteriovenous malformation"} {"id":"HP:0006549","name":"Unilateral primary pulmonary dysgenesis"} {"id":"HP:0006552","name":"Fibrocystic lung disease"} {"id":"HP:0006554","name":"Acute hepatic failure"} {"id":"HP:0006555","name":"Diffuse hepatic steatosis"} {"id":"HP:0006557","name":"Polycystic liver disease"} {"id":"HP:0006558","name":"Decreased mitochondrial complex III activity in liver tissue"} {"id":"HP:0006559","name":"Hepatic calcification"} {"id":"HP:0006560","name":"Biliary hyperplasia"} {"id":"HP:0006561","name":"Lipid accumulation in hepatocytes"} {"id":"HP:0006562","name":"Viral hepatitis"} {"id":"HP:0006563","name":"Malformation of the hepatic ductal plate"} {"id":"HP:0006564","name":"Fluctuating hepatomegaly"} {"id":"HP:0006565","name":"Increased hepatocellular lipid droplets"} {"id":"HP:0006566","name":"Neonatal cholestatic liver disease"} {"id":"HP:0006568","name":"Increased hepatic glycogen content"} {"id":"HP:0006571","name":"Reduced number of intrahepatic bile ducts"} {"id":"HP:0006572","name":"Subacute progressive viral hepatitis"} {"id":"HP:0006573","name":"Acute hepatic steatosis"} {"id":"HP:0006574","name":"Hepatic arteriovenous malformation"} {"id":"HP:0006575","name":"Intrahepatic cholestasis with episodic jaundice"} {"id":"HP:0006576","name":"Hepatic vascular malformations"} {"id":"HP:0006577","name":"Macronodular cirrhosis"} {"id":"HP:0006579","name":"Prolonged neonatal jaundice"} {"id":"HP:0006580","name":"Portal fibrosis"} {"id":"HP:0006581","name":"Depletion of mitochondrial DNA in liver"} {"id":"HP:0006582","name":"Reye syndrome-like episodes"} {"id":"HP:0006583","name":"Fatal liver failure in infancy"} {"id":"HP:0006584","name":"Small abnormally formed scapulae"} {"id":"HP:0006585","name":"Congenital pseudoarthrosis of the clavicle"} {"id":"HP:0006587","name":"Straight clavicles"} {"id":"HP:0006589","name":"Flaring of lower rib cage"} {"id":"HP:0006590","name":"Premature sternal synostosis"} {"id":"HP:0006591","name":"Absent glenoid fossa"} {"id":"HP:0006593","name":"Anomalous rib insertion to vertebrae"} {"id":"HP:0006595","name":"Scapulohumeral synostosis"} {"id":"HP:0006596","name":"Restricted chest movement"} {"id":"HP:0006597","name":"Diaphragmatic paralysis"} {"id":"HP:0006598","name":"Irregular ossification at anterior rib ends"} {"id":"HP:0006599","name":"Medial widening of clavicles"} {"id":"HP:0006600","name":"Progressive calcification of costochondral cartilage"} {"id":"HP:0006603","name":"Flared, irregular rib ends"} {"id":"HP:0006606","name":"Irregular chondrocostal junctions"} {"id":"HP:0006607","name":"Precocious costochondral ossification"} {"id":"HP:0006608","name":"Midclavicular hypoplasia"} {"id":"HP:0006610","name":"Wide intermamillary distance"} {"id":"HP:0006611","name":"Decreased number of sternal ossification centers"} {"id":"HP:0006615","name":"Absent in utero rib ossification"} {"id":"HP:0006619","name":"Anterior rib punctate calcifications"} {"id":"HP:0006623","name":"Costochondral joint sclerosis"} {"id":"HP:0006625","name":"Multifocal breast carcinoma"} {"id":"HP:0006628","name":"Absent sternal ossification"} {"id":"HP:0006631","name":"Hypoplastic distal segments of scapulae"} {"id":"HP:0006633","name":"Glenoid fossa hypoplasia"} {"id":"HP:0006634","name":"Osteosclerosis of ribs"} {"id":"HP:0006637","name":"Sternal punctate calcifications"} {"id":"HP:0006638","name":"Midclavicular aplasia"} {"id":"HP:0006640","name":"Multiple rib fractures"} {"id":"HP:0006641","name":"Prominent floating ribs"} {"id":"HP:0006642","name":"Large sternal ossification centers"} {"id":"HP:0006643","name":"Fused sternal ossification centers"} {"id":"HP:0006644","name":"Thoracic dysplasia"} {"id":"HP:0006645","name":"Thin clavicles"} {"id":"HP:0006646","name":"Costal cartilage calcification"} {"id":"HP:0006647","name":"Congenital microthorax"} {"id":"HP:0006649","name":"Costochondral pain"} {"id":"HP:0006650","name":"Thickening of the lateral border of the scapula"} {"id":"HP:0006655","name":"Rib segmentation abnormalities"} {"id":"HP:0006657","name":"Hypoplasia of first ribs"} {"id":"HP:0006659","name":"Internally rotated shoulders"} {"id":"HP:0006660","name":"Aplastic clavicles"} {"id":"HP:0006665","name":"Coat hanger sign of ribs"} {"id":"HP:0006668","name":"Twelfth rib hypoplasia"} {"id":"HP:0006670","name":"Impaired myocardial contractility"} {"id":"HP:0006671","name":"Paroxysmal atrial tachycardia"} {"id":"HP:0006673","name":"Reduced systolic function"} {"id":"HP:0006677","name":"Prolonged QRS complex"} {"id":"HP:0006679","name":"Granulomatous coronary arteritis"} {"id":"HP:0006681","name":"Absent atrioventricular node"} {"id":"HP:0006682","name":"Ventricular extrasystoles"} {"id":"HP:0006683","name":"Abnormal ventricular filling"} {"id":"HP:0006684","name":"Ventricular preexcitation with multiple accessory pathways"} {"id":"HP:0006685","name":"Endocardial fibrosis"} {"id":"HP:0006687","name":"Aortic tortuosity"} {"id":"HP:0006688","name":"Paroxysmal tachycardia"} {"id":"HP:0006689","name":"Bacterial endocarditis"} {"id":"HP:0006690","name":"Myocardial calcification"} {"id":"HP:0006691","name":"Pulmonic valve myxoma"} {"id":"HP:0006692","name":"Short chordae tendineae of the tricuspid valve"} {"id":"HP:0006693","name":"Myocardial steatosis"} {"id":"HP:0006694","name":"Early progressive calcific cardiac valvular disease"} {"id":"HP:0006695","name":"Atrioventricular canal defect"} {"id":"HP:0006696","name":"Polymorphic and polytopic ventricular extrasystoles"} {"id":"HP:0006698","name":"Ventricular aneurysm"} {"id":"HP:0006699","name":"Ectopic supraventricular rhythms"} {"id":"HP:0006702","name":"Spontaneous coronary artery dissection"} {"id":"HP:0006703","name":"Aplasia/Hypoplasia of the lungs"} {"id":"HP:0006704","name":"Abnormality of the coronary arteries"} {"id":"HP:0006705","name":"Abnormality of the atrioventricular valves"} {"id":"HP:0006706","name":"Cystic liver disease"} {"id":"HP:0006707","name":"Abnormality of the hepatic vasculature"} {"id":"HP:0006709","name":"Aplasia/Hypoplasia of the nipples"} {"id":"HP:0006710","name":"Aplasia/Hypoplasia of the clavicles"} {"id":"HP:0006711","name":"Aplasia/Hypoplasia involving bones of the thorax"} {"id":"HP:0006712","name":"Aplasia/Hypoplasia of the ribs"} {"id":"HP:0006713","name":"Aplasia/Hypoplasia of the scapulae"} {"id":"HP:0006714","name":"Aplasia/Hypoplasia of the sternum"} {"id":"HP:0006715","name":"Glomus tympanicum paraganglioma"} {"id":"HP:0006716","name":"Hereditary nonpolyposis colorectal carcinoma"} {"id":"HP:0006717","name":"Peripheral neuroepithelioma"} {"id":"HP:0006719","name":"Benign gastrointestinal tract tumors"} {"id":"HP:0006721","name":"Acute lymphatic leukemia"} {"id":"HP:0006722","name":"Small intestine carcinoid"} {"id":"HP:0006723","name":"Intestinal carcinoid"} {"id":"HP:0006725","name":"Pancreatic adenocarcinoma"} {"id":"HP:0006727","name":"T-cell acute lymphoblastic leukemias"} {"id":"HP:0006729","name":"Retroperitoneal chemodectomas"} {"id":"HP:0006731","name":"Follicular thyroid carcinoma"} {"id":"HP:0006732","name":"Papillary renal cell carcinoma type 2"} {"id":"HP:0006733","name":"Acute megakaryocytic leukemia"} {"id":"HP:0006735","name":"Renal cortical adenoma"} {"id":"HP:0006737","name":"Extraadrenal pheochromocytoma"} {"id":"HP:0006739","name":"Squamous cell carcinoma of the skin"} {"id":"HP:0006740","name":"Transitional cell carcinoma of the bladder"} {"id":"HP:0006742","name":"Congenital neuroblastoma"} {"id":"HP:0006743","name":"Embryonal rhabdomyosarcoma"} {"id":"HP:0006744","name":"Adrenocortical carcinoma"} {"id":"HP:0006747","name":"Ganglioneuroblastoma"} {"id":"HP:0006748","name":"Adrenal pheochromocytoma"} {"id":"HP:0006749","name":"Malignant gastrointestinal tract tumors"} {"id":"HP:0006751","name":"Paraspinal neurofibromas"} {"id":"HP:0006753","name":"Neoplasm of the stomach"} {"id":"HP:0006755","name":"Cutaneous leiomyosarcoma"} {"id":"HP:0006756","name":"Diffuse leiomyomatosis"} {"id":"HP:0006758","name":"Malignant genitourinary tract tumor"} {"id":"HP:0006762","name":"Renal pelvic carcinoma"} {"id":"HP:0006763","name":"Anal canal squamous carcinoma"} {"id":"HP:0006765","name":"Chondrosarcoma"} {"id":"HP:0006766","name":"Papillary renal cell carcinoma"} {"id":"HP:0006767","name":"Pituitary prolactin cell adenoma"} {"id":"HP:0006768","name":"Localized neuroblastoma"} {"id":"HP:0006769","name":"Myxoid subcutaneous tumors"} {"id":"HP:0006770","name":"Clear cell renal cell carcinoma"} {"id":"HP:0006771","name":"Duodenal carcinoma"} {"id":"HP:0006772","name":"Renal angiomyolipoma"} {"id":"HP:0006773","name":"Cutaneous angiolipomas"} {"id":"HP:0006774","name":"Ovarian papillary adenocarcinoma"} {"id":"HP:0006775","name":"Multiple myeloma"} {"id":"HP:0006778","name":"Benign genitourinary tract neoplasm"} {"id":"HP:0006779","name":"Alveolar rhabdomyosarcoma"} {"id":"HP:0006780","name":"Parathyroid carcinoma"} {"id":"HP:0006781","name":"Hurthle cell thyroid adenoma"} {"id":"HP:0006782","name":"Malignant eosinophil proliferation"} {"id":"HP:0006783","name":"Posterior pharyngeal cleft"} {"id":"HP:0006784","name":"Paranasal sinus hypoplasia"} {"id":"HP:0006785","name":"Limb-girdle muscular dystrophy"} {"id":"HP:0006789","name":"Mitochondrial encephalopathy"} {"id":"HP:0006790","name":"Cerebral cortex with spongiform changes"} {"id":"HP:0006794","name":"Loss of ability to walk in first decade"} {"id":"HP:0006799","name":"Basal ganglia cysts"} {"id":"HP:0006801","name":"Hyperactive deep tendon reflexes"} {"id":"HP:0006802","name":"Abnormal anterior horn cell morphology"} {"id":"HP:0006803","name":"Vivid hallucinations"} {"id":"HP:0006808","name":"Cerebral hypomyelination"} {"id":"HP:0006812","name":"White mater abnormalities in the posterior periventricular region"} {"id":"HP:0006813","name":"Hemiclonic seizures"} {"id":"HP:0006817","name":"Aplasia/Hypoplasia of the cerebellar vermis"} {"id":"HP:0006818","name":"Type I lissencephaly"} {"id":"HP:0006821","name":"Polymicrogyria, anterior to posterior gradient"} {"id":"HP:0006824","name":"Cranial nerve paralysis"} {"id":"HP:0006825","name":"Pallor of dorsal columns of the spinal cord"} {"id":"HP:0006827","name":"Atrophy of the spinal cord"} {"id":"HP:0006829","name":"Severe muscular hypotonia"} {"id":"HP:0006830","name":"Severe neonatal hypotonia in males"} {"id":"HP:0006834","name":"Developmental stagnation at onset of seizures"} {"id":"HP:0006837","name":"Congenital Horner syndrome"} {"id":"HP:0006844","name":"Absent patellar reflexes"} {"id":"HP:0006846","name":"Acute encephalopathy"} {"id":"HP:0006849","name":"Hypodysplasia of the corpus callosum"} {"id":"HP:0006850","name":"Hypoplasia of the ventral pons"} {"id":"HP:0006851","name":"Symmetric spinal nerve root neurofibromas"} {"id":"HP:0006852","name":"Episodic generalized hypotonia"} {"id":"HP:0006855","name":"Cerebellar vermis atrophy"} {"id":"HP:0006858","name":"Impaired distal proprioception"} {"id":"HP:0006859","name":"Posterior leukoencephalopathy"} {"id":"HP:0006863","name":"Severe expressive language delay"} {"id":"HP:0006865","name":"Sensorimotor polyneuropathy affecting arms more than legs"} {"id":"HP:0006866","name":"Midline central nervous system lipomas"} {"id":"HP:0006870","name":"Lobar holoprosencephaly"} {"id":"HP:0006872","name":"Cerebral hypoplasia"} {"id":"HP:0006873","name":"Symmetrical progressive peripheral demyelination"} {"id":"HP:0006879","name":"Pontocerebellar atrophy"} {"id":"HP:0006880","name":"Cerebellar hemangioblastoma"} {"id":"HP:0006881","name":"Diffuse peripheral demyelination"} {"id":"HP:0006882","name":"Severe hydrocephalus"} {"id":"HP:0006886","name":"Impaired distal vibration sensation"} {"id":"HP:0006887","name":"Intellectual disability, progressive"} {"id":"HP:0006888","name":"Meningoencephalocele"} {"id":"HP:0006889","name":"Intellectual disability, borderline"} {"id":"HP:0006891","name":"Thick cerebral cortex"} {"id":"HP:0006892","name":"Frontotemporal cerebral atrophy"} {"id":"HP:0006893","name":"Severely dysplastic cerebellum"} {"id":"HP:0006894","name":"Hypoplastic olfactory lobes"} {"id":"HP:0006895","name":"Lower limb hypertonia"} {"id":"HP:0006896","name":"Hypnopompic hallucinations"} {"id":"HP:0006897","name":"Cranial nerve VI palsy"} {"id":"HP:0006899","name":"Fusion of the cerebellar hemispheres"} {"id":"HP:0006901","name":"Impaired thermal sensitivity"} {"id":"HP:0006903","name":"Congenital peripheral neuropathy"} {"id":"HP:0006904","name":"Late-onset spinocerebellar degeneration"} {"id":"HP:0006906","name":"Congenital intracerebral calcification"} {"id":"HP:0006913","name":"Frontal cortical atrophy"} {"id":"HP:0006915","name":"Inability to walk by childhood/adolescence"} {"id":"HP:0006916","name":"Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material"} {"id":"HP:0006918","name":"Diffuse cerebral sclerosis"} {"id":"HP:0006919","name":"Abnormal aggressive, impulsive or violent behavior"} {"id":"HP:0006921","name":"Axial muscle stiffness"} {"id":"HP:0006926","name":"Metachromatic leukodystrophy variant"} {"id":"HP:0006927","name":"Unilateral polymicrogyria"} {"id":"HP:0006929","name":"Hypoglycemic encephalopathy"} {"id":"HP:0006930","name":"Frontoparietal cortical dysplasia"} {"id":"HP:0006931","name":"Lipoma of corpus callosum"} {"id":"HP:0006932","name":"Transient psychotic episodes"} {"id":"HP:0006934","name":"Congenital nystagmus"} {"id":"HP:0006937","name":"Impaired distal tactile sensation"} {"id":"HP:0006938","name":"Impaired vibration sensation at ankles"} {"id":"HP:0006943","name":"Diffuse spongiform leukoencephalopathy"} {"id":"HP:0006944","name":"Abolished vibration sense"} {"id":"HP:0006946","name":"Recurrent meningitis"} {"id":"HP:0006949","name":"Episodic peripheral neuropathy"} {"id":"HP:0006951","name":"Retrocerebellar cyst"} {"id":"HP:0006955","name":"Olivopontocerebellar hypoplasia"} {"id":"HP:0006956","name":"Dilation of lateral ventricles"} {"id":"HP:0006957","name":"Loss of ability to walk"} {"id":"HP:0006958","name":"Abnormal auditory evoked potentials"} {"id":"HP:0006959","name":"Proximal spinal muscular atrophy"} {"id":"HP:0006960","name":"Choroid plexus calcification"} {"id":"HP:0006961","name":"Jerky head movements"} {"id":"HP:0006962","name":"Gait instability, worse in the dark"} {"id":"HP:0006964","name":"Cerebral cortical neurodegeneration"} {"id":"HP:0006965","name":"Acute necrotizing encephalopathy"} {"id":"HP:0006970","name":"Periventricular leukomalacia"} {"id":"HP:0006976","name":"Necrotizing encephalopathy"} {"id":"HP:0006977","name":"Grammar-specific speech disorder"} {"id":"HP:0006978","name":"Dysmyelinating leukodystrophy"} {"id":"HP:0006979","name":"Sleep-wake cycle disturbance"} {"id":"HP:0006980","name":"Progressive leukoencephalopathy"} {"id":"HP:0006983","name":"Slowly progressive spastic quadriparesis"} {"id":"HP:0006984","name":"Distal sensory loss of all modalities"} {"id":"HP:0006986","name":"Upper limb spasticity"} {"id":"HP:0006988","name":"Alobar holoprosencephaly"} {"id":"HP:0006989","name":"Dysplastic corpus callosum"} {"id":"HP:0006990","name":"Myelin-dependent gliosis"} {"id":"HP:0006992","name":"Anterior basal encephalocele"} {"id":"HP:0006994","name":"Diffuse leukoencephalopathy"} {"id":"HP:0006999","name":"Basal ganglia gliosis"} {"id":"HP:0007000","name":"Morning myoclonic jerks"} {"id":"HP:0007001","name":"Loss of Purkinje cells in the cerebellar vermis"} {"id":"HP:0007002","name":"Motor axonal neuropathy"} {"id":"HP:0007006","name":"Dorsal column degeneration"} {"id":"HP:0007007","name":"Cavitation of the basal ganglia"} {"id":"HP:0007009","name":"Central nervous system degeneration"} {"id":"HP:0007010","name":"Poor fine motor coordination"} {"id":"HP:0007011","name":"Fourth cranial nerve palsy"} {"id":"HP:0007015","name":"Poor gross motor coordination"} {"id":"HP:0007016","name":"Corticospinal tract hypoplasia"} {"id":"HP:0007017","name":"Progressive forgetfulness"} {"id":"HP:0007018","name":"Attention deficit hyperactivity disorder"} {"id":"HP:0007020","name":"Progressive spastic paraplegia"} {"id":"HP:0007021","name":"Pain insensitivity"} {"id":"HP:0007023","name":"Antenatal intracerebral hemorrhage"} {"id":"HP:0007024","name":"Pseudobulbar paralysis"} {"id":"HP:0007027","name":"Poorly formed metencephalon"} {"id":"HP:0007029","name":"Cerebral berry aneurysm"} {"id":"HP:0007030","name":"Nonprogressive encephalopathy"} {"id":"HP:0007033","name":"Cerebellar dysplasia"} {"id":"HP:0007034","name":"Generalized hyperreflexia"} {"id":"HP:0007035","name":"Anterior encephalocele"} {"id":"HP:0007036","name":"Hypoplasia of olfactory tract"} {"id":"HP:0007039","name":"Symmetric lesions of the basal ganglia"} {"id":"HP:0007041","name":"Chronic lymphocytic meningitis"} {"id":"HP:0007042","name":"Focal white matter lesions"} {"id":"HP:0007045","name":"Midline brain calcifications"} {"id":"HP:0007047","name":"Atrophy of the dentate nucleus"} {"id":"HP:0007048","name":"Large basal ganglia"} {"id":"HP:0007052","name":"Multifocal cerebral white matter abnormalities"} {"id":"HP:0007054","name":"Hyperreflexia proximally"} {"id":"HP:0007057","name":"Poor hand-eye coordination"} {"id":"HP:0007058","name":"Generalized cerebral atrophy/hypoplasia"} {"id":"HP:0007063","name":"Aplasia of the inferior half of the cerebellar vermis"} {"id":"HP:0007064","name":"Progressive language deterioration"} {"id":"HP:0007065","name":"Disorganization of the anterior cerebellar vermis"} {"id":"HP:0007066","name":"Proximal limb muscle stiffness"} {"id":"HP:0007067","name":"Distal peripheral sensory neuropathy"} {"id":"HP:0007068","name":"Inferior vermis hypoplasia"} {"id":"HP:0007069","name":"Profound static encephalopathy"} {"id":"HP:0007074","name":"Thick corpus callosum"} {"id":"HP:0007076","name":"Extrapyramidal muscular rigidity"} {"id":"HP:0007078","name":"Decreased amplitude of sensory action potentials"} {"id":"HP:0007081","name":"Late-onset muscular dystrophy"} {"id":"HP:0007082","name":"Dilated third ventricle"} {"id":"HP:0007083","name":"Hyperactive patellar reflex"} {"id":"HP:0007086","name":"Social and occupational deterioration"} {"id":"HP:0007087","name":"Involuntary jerking movements"} {"id":"HP:0007089","name":"Facial-lingual fasciculations"} {"id":"HP:0007095","name":"Frontoparietal polymicrogyria"} {"id":"HP:0007096","name":"Hypoplasia of the optic tract"} {"id":"HP:0007097","name":"Cranial nerve motor loss"} {"id":"HP:0007098","name":"Paroxysmal choreoathetosis"} {"id":"HP:0007099","name":"Arnold-Chiari type I malformation"} {"id":"HP:0007100","name":"Progressive ventriculomegaly"} {"id":"HP:0007103","name":"Hypointensity of cerebral white matter on MRI"} {"id":"HP:0007104","name":"Prolonged somatosensory evoked potentials"} {"id":"HP:0007105","name":"Infantile encephalopathy"} {"id":"HP:0007107","name":"Segmental peripheral demyelination"} {"id":"HP:0007108","name":"Demyelinating peripheral neuropathy"} {"id":"HP:0007109","name":"Periventricular cysts"} {"id":"HP:0007110","name":"Central hypoventilation"} {"id":"HP:0007111","name":"Chronic hepatic encephalopathy"} {"id":"HP:0007112","name":"Temporal cortical atrophy"} {"id":"HP:0007115","name":"Orbital encephalocele"} {"id":"HP:0007117","name":"Corticospinal tract atrophy"} {"id":"HP:0007123","name":"Subcortical dementia"} {"id":"HP:0007126","name":"Proximal amyotrophy"} {"id":"HP:0007129","name":"Cerebellar medulloblastoma"} {"id":"HP:0007131","name":"Acute demyelinating polyneuropathy"} {"id":"HP:0007132","name":"Pallidal degeneration"} {"id":"HP:0007133","name":"Progressive peripheral neuropathy"} {"id":"HP:0007141","name":"Sensorimotor neuropathy"} {"id":"HP:0007146","name":"Bilateral basal ganglia lesions"} {"id":"HP:0007149","name":"Distal upper limb amyotrophy"} {"id":"HP:0007153","name":"Progressive extrapyramidal movement disorder"} {"id":"HP:0007156","name":"Asymmetric limb muscle stiffness"} {"id":"HP:0007158","name":"Progressive extrapyramidal muscular rigidity"} {"id":"HP:0007159","name":"Fluctuations in consciousness"} {"id":"HP:0007162","name":"Diffuse demyelination of the cerebral white matter"} {"id":"HP:0007164","name":"Slowed slurred speech"} {"id":"HP:0007165","name":"Periventricular gray matter heterotopia"} {"id":"HP:0007166","name":"Paroxysmal dyskinesia"} {"id":"HP:0007178","name":"Motor polyneuropathy"} {"id":"HP:0007179","name":"Absent smooth pursuit"} {"id":"HP:0007181","name":"Interosseus muscle atrophy"} {"id":"HP:0007182","name":"Peripheral hypomyelination"} {"id":"HP:0007183","name":"Focal T2 hyperintense basal ganglia lesion"} {"id":"HP:0007185","name":"Loss of consciousness"} {"id":"HP:0007187","name":"Focal lissencephaly"} {"id":"HP:0007188","name":"Congenital facial diplegia"} {"id":"HP:0007190","name":"Neuronal loss in the cerebral cortex"} {"id":"HP:0007193","name":"Generalized tonic-clonic seizures on awakening"} {"id":"HP:0007199","name":"Progressive spastic paraparesis"} {"id":"HP:0007200","name":"Episodic hypersomnia"} {"id":"HP:0007201","name":"Cerebral artery atherosclerosis"} {"id":"HP:0007204","name":"Diffuse white matter abnormalities"} {"id":"HP:0007206","name":"Hemimegalencephaly"} {"id":"HP:0007207","name":"Photosensitive tonic-clonic seizures"} {"id":"HP:0007208","name":"Irregular myelin loops"} {"id":"HP:0007209","name":"Facial paralysis"} {"id":"HP:0007210","name":"Lower limb amyotrophy"} {"id":"HP:0007215","name":"Periodic hyperkalemic paralysis"} {"id":"HP:0007220","name":"Demyelinating motor neuropathy"} {"id":"HP:0007221","name":"Progressive truncal ataxia"} {"id":"HP:0007227","name":"Macrogyria"} {"id":"HP:0007229","name":"Intracerebral periventricular calcifications"} {"id":"HP:0007230","name":"Decreased distal sensory nerve action potential"} {"id":"HP:0007232","name":"Spinocerebellar tract disease in lower limbs"} {"id":"HP:0007233","name":"Clusters of axonal regeneration"} {"id":"HP:0007236","name":"Recurrent subcortical infarcts"} {"id":"HP:0007238","name":"Nonarteriosclerotic cerebral calcification"} {"id":"HP:0007239","name":"Congenital encephalopathy"} {"id":"HP:0007240","name":"Progressive gait ataxia"} {"id":"HP:0007249","name":"Decreased number of small peripheral myelinated nerve fibers"} {"id":"HP:0007250","name":"Recurrent external ophthalmoplegia"} {"id":"HP:0007256","name":"Abnormal pyramidal signs"} {"id":"HP:0007258","name":"Severe demyelination of the white matter"} {"id":"HP:0007260","name":"Type II lissencephaly"} {"id":"HP:0007262","name":"Symmetric peripheral demyelination"} {"id":"HP:0007263","name":"Spinocerebellar atrophy"} {"id":"HP:0007265","name":"Absent mesencephalon"} {"id":"HP:0007266","name":"Cerebral dysmyelination"} {"id":"HP:0007267","name":"Chronic axonal neuropathy"} {"id":"HP:0007268","name":"Aprosencephaly"} {"id":"HP:0007269","name":"Spinal muscular atrophy"} {"id":"HP:0007270","name":"Atypical absence seizures"} {"id":"HP:0007271","name":"Occipital myelomeningocele"} {"id":"HP:0007272","name":"Progressive psychomotor deterioration"} {"id":"HP:0007274","name":"Recurrent bacterial meningitis"} {"id":"HP:0007277","name":"Paucity of anterior horn motor neurons"} {"id":"HP:0007280","name":"Acute infantile spinal muscular atrophy"} {"id":"HP:0007281","name":"Developmental stagnation"} {"id":"HP:0007285","name":"Facial palsy secondary to cranial hyperostosis"} {"id":"HP:0007286","name":"Horizontal jerk nystagmus"} {"id":"HP:0007289","name":"Limb fasciculations"} {"id":"HP:0007291","name":"Posterior fossa cyst"} {"id":"HP:0007293","name":"Anterior sacral meningocele"} {"id":"HP:0007295","name":"Chaotic rapid conjugate ocular movements"} {"id":"HP:0007299","name":"Dysfunction of lateral corticospinal tracts"} {"id":"HP:0007301","name":"Oromotor apraxia"} {"id":"HP:0007302","name":"Bipolar affective disorder"} {"id":"HP:0007305","name":"CNS demyelination"} {"id":"HP:0007307","name":"Rapid neurologic deterioration"} {"id":"HP:0007308","name":"Extrapyramidal dyskinesia"} {"id":"HP:0007311","name":"Short stepped shuffling gait"} {"id":"HP:0007313","name":"Cerebral degeneration"} {"id":"HP:0007314","name":"White matter neuronal heterotopia"} {"id":"HP:0007316","name":"Involuntary writhing movements"} {"id":"HP:0007321","name":"Deep white matter hypodensities"} {"id":"HP:0007325","name":"Generalized dystonia"} {"id":"HP:0007326","name":"Progressive choreoathetosis"} {"id":"HP:0007327","name":"Mixed demyelinating and axonal polyneuropathy"} {"id":"HP:0007328","name":"Impaired pain sensation"} {"id":"HP:0007330","name":"Frontal encephalocele"} {"id":"HP:0007332","name":"Hemifacial seizures"} {"id":"HP:0007333","name":"Hypoplasia of the frontal lobes"} {"id":"HP:0007334","name":"Bilateral convulsive seizures"} {"id":"HP:0007335","name":"Recurrent encephalopathy"} {"id":"HP:0007338","name":"Hypermetric saccades"} {"id":"HP:0007340","name":"Lower limb muscle weakness"} {"id":"HP:0007341","name":"Diffuse swelling of cerebral white matter"} {"id":"HP:0007343","name":"Limbic malformations"} {"id":"HP:0007344","name":"Atrophy/Degeneration involving the spinal cord"} {"id":"HP:0007346","name":"Subcortical white matter calcifications"} {"id":"HP:0007348","name":"Hypoplasia of the pyramidal tract"} {"id":"HP:0007350","name":"Hyperreflexia in upper limbs"} {"id":"HP:0007351","name":"Upper limb postural tremor"} {"id":"HP:0007352","name":"Cerebellar calcifications"} {"id":"HP:0007354","name":"Amyotrophic lateral sclerosis"} {"id":"HP:0007359","name":"Focal seizures"} {"id":"HP:0007360","name":"Aplasia/Hypoplasia of the cerebellum"} {"id":"HP:0007361","name":"Abnormality of the pons"} {"id":"HP:0007362","name":"Aplasia/Hypoplasia of the brainstem"} {"id":"HP:0007363","name":"Aplasia/Hypoplasia of the pyramidal tract"} {"id":"HP:0007364","name":"Aplasia/Hypoplasia of the cerebrum"} {"id":"HP:0007365","name":"Aplasia/Hypoplasia involving the corticospinal tracts"} {"id":"HP:0007366","name":"Atrophy/Degeneration affecting the brainstem"} {"id":"HP:0007367","name":"Atrophy/Degeneration affecting the central nervous system"} {"id":"HP:0007369","name":"Atrophy/Degeneration affecting the cerebrum"} {"id":"HP:0007370","name":"Aplasia/Hypoplasia of the corpus callosum"} {"id":"HP:0007371","name":"Corpus callosum atrophy"} {"id":"HP:0007372","name":"Atrophy/Degeneration involving the corticospinal tracts"} {"id":"HP:0007373","name":"Motor neuron atrophy"} {"id":"HP:0007374","name":"Atrophy/Degeneration involving the caudate nucleus"} {"id":"HP:0007375","name":"Abnormality of the septum pellucidum"} {"id":"HP:0007376","name":"Abnormality of the choroid plexus"} {"id":"HP:0007377","name":"Abnormality of somatosensory evoked potentials"} {"id":"HP:0007378","name":"Neoplasm of the gastrointestinal tract"} {"id":"HP:0007379","name":"Neoplasm of the genitourinary tract"} {"id":"HP:0007380","name":"Facial telangiectasia"} {"id":"HP:0007381","name":"Congenital exfoliative erythroderma"} {"id":"HP:0007383","name":"Congenital localized absence of skin"} {"id":"HP:0007384","name":"Aberrant melanosome maturation"} {"id":"HP:0007385","name":"Aplasia cutis congenita of scalp"} {"id":"HP:0007387","name":"Hypoplastic sweat glands"} {"id":"HP:0007390","name":"Hyperkeratosis with erythema"} {"id":"HP:0007392","name":"Excessive wrinkled skin"} {"id":"HP:0007394","name":"Prominent superficial blood vessels"} {"id":"HP:0007395","name":"Postnatal-onset ichthyosiform erythroderma"} {"id":"HP:0007396","name":"Early cutaneous photosensitivity"} {"id":"HP:0007397","name":"Axillary apocrine gland hypoplasia"} {"id":"HP:0007398","name":"Asymmetric, linear skin defects"} {"id":"HP:0007400","name":"Irregular hyperpigmentation"} {"id":"HP:0007401","name":"Noninflammatory macular atrophy"} {"id":"HP:0007402","name":"Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines"} {"id":"HP:0007403","name":"Hypertrophy of skin of soles"} {"id":"HP:0007404","name":"Nonepidermolytic palmoplantar keratoderma"} {"id":"HP:0007406","name":"Hyperpigmentation of eyelids"} {"id":"HP:0007407","name":"Excessive skin wrinkling on dorsum of hands and fingers"} {"id":"HP:0007408","name":"Tegumentary leishmaniasis susceptibility"} {"id":"HP:0007409","name":"Absence of subcutaneous fat over entire body except buttocks, hips, and thighs"} {"id":"HP:0007410","name":"Palmoplantar hyperhidrosis"} {"id":"HP:0007411","name":"Hypoplastic-absent sebaceous glands"} {"id":"HP:0007412","name":"Macular hyperpigmented dermopathy"} {"id":"HP:0007413","name":"Nevus flammeus of the forehead"} {"id":"HP:0007414","name":"Neonatal wrinkled skin of hands and feet"} {"id":"HP:0007417","name":"Discoid lupus erythematosus"} {"id":"HP:0007418","name":"Alopecia totalis"} {"id":"HP:0007420","name":"Spontaneous hematomas"} {"id":"HP:0007421","name":"Telangiectases of the cheeks"} {"id":"HP:0007425","name":"Hyperextensible skin of face"} {"id":"HP:0007427","name":"Reticulated skin pigmentation"} {"id":"HP:0007428","name":"Telangiectasia of the oral mucosa"} {"id":"HP:0007429","name":"Few cafe-au-lait spots"} {"id":"HP:0007430","name":"Generalized edema"} {"id":"HP:0007431","name":"Congenital ichthyosiform erythroderma"} {"id":"HP:0007432","name":"Intermittent generalized erythematous papular rash"} {"id":"HP:0007434","name":"Plaque-like facial hemangioma"} {"id":"HP:0007435","name":"Diffuse palmoplantar keratoderma"} {"id":"HP:0007436","name":"Hair-nail ectodermal dysplasia"} {"id":"HP:0007437","name":"Multiple cutaneous leiomyomas"} {"id":"HP:0007438","name":"Mottled pigmentation of the trunk and proximal extremities"} {"id":"HP:0007439","name":"Generalized keratosis follicularis"} {"id":"HP:0007440","name":"Generalized hyperpigmentation"} {"id":"HP:0007441","name":"Hyperpigmented/hypopigmented macules"} {"id":"HP:0007443","name":"Partial albinism"} {"id":"HP:0007446","name":"Palmoplantar blistering"} {"id":"HP:0007447","name":"Diffuse palmoplantar hyperkeratosis"} {"id":"HP:0007448","name":"Hyperkeratosis over edematous areas"} {"id":"HP:0007449","name":"Confetti-like hypopigmented macules"} {"id":"HP:0007450","name":"Increased groin pigmentation with raindrop depigmentation"} {"id":"HP:0007451","name":"Ipsilateral lack of facial sweating"} {"id":"HP:0007452","name":"Midface capillary hemangioma"} {"id":"HP:0007453","name":"Flexural lichenification"} {"id":"HP:0007455","name":"Adermatoglyphia"} {"id":"HP:0007456","name":"Progressive reticulate hyperpigmentation"} {"id":"HP:0007457","name":"Prominent veins on trunk"} {"id":"HP:0007458","name":"Focal hyperextensible skin"} {"id":"HP:0007459","name":"Generalized anhidrosis"} {"id":"HP:0007460","name":"Autoamputation of digits"} {"id":"HP:0007461","name":"Hemangiomatosis"} {"id":"HP:0007462","name":"Bitot spots of the conjunctiva"} {"id":"HP:0007464","name":"Sparse facial hair"} {"id":"HP:0007465","name":"Honeycomb palmoplantar keratoderma"} {"id":"HP:0007466","name":"Midfrontal capillary hemangioma"} {"id":"HP:0007468","name":"Perifollicular hyperkeratosis"} {"id":"HP:0007469","name":"Palmoplantar cutis gyrata"} {"id":"HP:0007470","name":"Periarticular subcutaneous nodules"} {"id":"HP:0007471","name":"Axillary and groin hyperpigmentation and hypopigmentation"} {"id":"HP:0007473","name":"Crusting erythematous dermatitis"} {"id":"HP:0007475","name":"Congenital bullous ichthyosiform erythroderma"} {"id":"HP:0007476","name":"Anhidrotic ectodermal dysplasia"} {"id":"HP:0007477","name":"Abnormal dermatoglyphics"} {"id":"HP:0007479","name":"Congenital nonbullous ichthyosiform erythroderma"} {"id":"HP:0007480","name":"Decreased sweating due to autonomic dysfunction"} {"id":"HP:0007481","name":"Hyperpigmented nevi"} {"id":"HP:0007482","name":"Generalized papillary lesions"} {"id":"HP:0007483","name":"Depigmentation/hyperpigmentation of skin"} {"id":"HP:0007485","name":"Absence of subcutaneous fat"} {"id":"HP:0007486","name":"Cavernous hemangioma of the face"} {"id":"HP:0007488","name":"Diffuse skin atrophy"} {"id":"HP:0007489","name":"Diffuse telangiectasia"} {"id":"HP:0007490","name":"Linear arrays of macular hyperkeratoses in flexural areas"} {"id":"HP:0007494","name":"Discrete 2 to 5-mm hyper- and hypopigmented macules"} {"id":"HP:0007495","name":"Prematurely aged appearance"} {"id":"HP:0007497","name":"Focal friction-related palmoplantar hyperkeratosis"} {"id":"HP:0007499","name":"Recurrent staphylococcal infections"} {"id":"HP:0007500","name":"Decreased number of sweat glands"} {"id":"HP:0007501","name":"Streaks of hyperkeratosis along each finger onto the palm"} {"id":"HP:0007502","name":"Follicular hyperkeratosis"} {"id":"HP:0007503","name":"Generalized ichthyosis"} {"id":"HP:0007504","name":"Diffuse slow skin atrophy"} {"id":"HP:0007505","name":"Progressive hyperpigmentation"} {"id":"HP:0007506","name":"Congenital absence of skin of limbs"} {"id":"HP:0007508","name":"Punctate palmar and solar hyperkeratosis"} {"id":"HP:0007509","name":"Patchy hypo- and hyperpigmentation"} {"id":"HP:0007510","name":"Focal dermal aplasia/hypoplasia"} {"id":"HP:0007511","name":"Mottled pigmentation of photoexposed areas"} {"id":"HP:0007513","name":"Generalized hypopigmentation"} {"id":"HP:0007514","name":"Edema of the dorsum of hands"} {"id":"HP:0007515","name":"Hypoplastic pilosebaceous units"} {"id":"HP:0007516","name":"Redundant skin on fingers"} {"id":"HP:0007517","name":"Palmoplantar cutis laxa"} {"id":"HP:0007519","name":"Lack of subcutaneous fatty tissue"} {"id":"HP:0007521","name":"Irregular hyperpigmentation of back"} {"id":"HP:0007522","name":"Increased number of skin folds"} {"id":"HP:0007524","name":"Atypical neurofibromatosis"} {"id":"HP:0007525","name":"Yellow subcutaneous tissue covered by thin, scaly skin"} {"id":"HP:0007526","name":"Hypopigmented skin patches on arms"} {"id":"HP:0007529","name":"Hidrotic ectodermal dysplasia"} {"id":"HP:0007530","name":"Punctate palmoplantar hyperkeratosis"} {"id":"HP:0007534","name":"Congenital posterior occipital alopecia"} {"id":"HP:0007535","name":"Hypopigmented streaks"} {"id":"HP:0007536","name":"Aplasia cutis congenita of midline scalp vertex"} {"id":"HP:0007537","name":"Severe photosensitivity"} {"id":"HP:0007541","name":"Frontal cutaneous lipoma"} {"id":"HP:0007542","name":"Absent pigmentation of the ventral chest"} {"id":"HP:0007543","name":"Epidermal hyperkeratosis"} {"id":"HP:0007544","name":"Piebaldism"} {"id":"HP:0007545","name":"Congenital palmoplantar keratosis"} {"id":"HP:0007546","name":"Linear hyperpigmentation"} {"id":"HP:0007548","name":"Palmoplantar keratosis with erythema and scale"} {"id":"HP:0007549","name":"Desquamation of skin soon after birth"} {"id":"HP:0007550","name":"Hypohidrosis or hyperhidrosis"} {"id":"HP:0007552","name":"Abnormal subcutaneous fat tissue distribution"} {"id":"HP:0007553","name":"Congenital symmetrical palmoplantar keratosis"} {"id":"HP:0007554","name":"Confetti hypopigmentation pattern of lower leg skin"} {"id":"HP:0007556","name":"Plantar hyperkeratosis"} {"id":"HP:0007559","name":"Localized epidermolytic hyperkeratosis"} {"id":"HP:0007560","name":"Unusual dermatoglyphics"} {"id":"HP:0007561","name":"Telangiectases in sun-exposed and nonexposed skin"} {"id":"HP:0007565","name":"Multiple cafe-au-lait spots"} {"id":"HP:0007566","name":"Index finger dermatoglyphic radial loop"} {"id":"HP:0007569","name":"Generalized seborrheic dermatitis"} {"id":"HP:0007570","name":"Hyperkeratosis lenticularis perstans"} {"id":"HP:0007572","name":"Hyperpigmented streaks"} {"id":"HP:0007573","name":"Late onset atopic dermatitis"} {"id":"HP:0007574","name":"Generalized bronze hyperpigmentation"} {"id":"HP:0007576","name":"Palmar neurofibromas"} {"id":"HP:0007581","name":"Mediosternal, longitudinal streak of hypopigmentation"} {"id":"HP:0007583","name":"Telangiectasia macularis eruptiva perstans"} {"id":"HP:0007585","name":"Skin fragility with non-scarring blistering"} {"id":"HP:0007586","name":"Telangiectases producing 'marbled' skin"} {"id":"HP:0007587","name":"Numerous pigmented freckles"} {"id":"HP:0007588","name":"Reticular hyperpigmentation"} {"id":"HP:0007589","name":"Aplasia cutis congenita on trunk or limbs"} {"id":"HP:0007590","name":"Aplasia cutis congenita over posterior parietal area"} {"id":"HP:0007592","name":"Aplasia/Hypoplastia of the eccrine sweat glands"} {"id":"HP:0007595","name":"Redundant skin in infancy"} {"id":"HP:0007596","name":"Painful subcutaneous lipomas"} {"id":"HP:0007597","name":"Congenital palmoplantar keratodermia"} {"id":"HP:0007598","name":"Bilateral single transverse palmar creases"} {"id":"HP:0007599","name":"Generalized reticulate brown pigmentation"} {"id":"HP:0007601","name":"Midline facial capillary hemangioma"} {"id":"HP:0007602","name":"Complex palmar dermatoglyphic pattern"} {"id":"HP:0007603","name":"Freckles in sun-exposed areas"} {"id":"HP:0007605","name":"Excessive wrinkling of palmar skin"} {"id":"HP:0007606","name":"Multiple cutaneous malignancies"} {"id":"HP:0007607","name":"Hypohidrotic ectodermal dysplasia"} {"id":"HP:0007608","name":"Abnormal palmar dermal ridges"} {"id":"HP:0007609","name":"Hypoproteinemic edema"} {"id":"HP:0007610","name":"Blotching pigmentation of the skin"} {"id":"HP:0007613","name":"Spinous keratoses of palms and soles"} {"id":"HP:0007616","name":"Nevus flammeus nuchae"} {"id":"HP:0007617","name":"Fine, reticulate skin pigmentation"} {"id":"HP:0007618","name":"Subcutaneous calcification"} {"id":"HP:0007620","name":"Cutaneous leiomyoma"} {"id":"HP:0007621","name":"Telangiectasia of extensor surfaces"} {"id":"HP:0007623","name":"Pigmentation anomalies of sun-exposed skin"} {"id":"HP:0007626","name":"Mandibular osteomyelitis"} {"id":"HP:0007627","name":"Mandibular condyle aplasia"} {"id":"HP:0007628","name":"Mandibular condyle hypoplasia"} {"id":"HP:0007633","name":"Bilateral microphthalmos"} {"id":"HP:0007634","name":"Nonarteritic anterior ischemic optic neuropathy"} {"id":"HP:0007641","name":"Dyschromatopsia"} {"id":"HP:0007642","name":"Congenital stationary night blindness"} {"id":"HP:0007643","name":"Peripheral traction retinal detachment"} {"id":"HP:0007646","name":"Absent lower eyelashes"} {"id":"HP:0007647","name":"Congenital extraocular muscle anomaly"} {"id":"HP:0007648","name":"Punctate cataract"} {"id":"HP:0007649","name":"Congenital hypertrophy of retinal pigment epithelium"} {"id":"HP:0007650","name":"Progressive ophthalmoplegia"} {"id":"HP:0007651","name":"Ectropion of lower eyelids"} {"id":"HP:0007654","name":"Retinal striation"} {"id":"HP:0007655","name":"Eversion of lateral third of lower eyelids"} {"id":"HP:0007656","name":"Lacrimal gland aplasia"} {"id":"HP:0007657","name":"Diffuse nuclear cataract"} {"id":"HP:0007658","name":"Large hyperpigmented retinal spots"} {"id":"HP:0007659","name":"Decreased retinal pigmentation with dispersion"} {"id":"HP:0007661","name":"Chorioretinal hypopigmentation or hyperpigmentation"} {"id":"HP:0007663","name":"Decreased central vision"} {"id":"HP:0007665","name":"Curly eyelashes"} {"id":"HP:0007667","name":"Cystic retinal degeneration"} {"id":"HP:0007668","name":"Impaired pursuit initiation and maintenance"} {"id":"HP:0007670","name":"Abnormal vestibulo-ocular reflex"} {"id":"HP:0007675","name":"Progressive night blindness"} {"id":"HP:0007676","name":"Hypoplasia of the iris"} {"id":"HP:0007677","name":"Vitelliform maculopathy"} {"id":"HP:0007678","name":"Lacrimal duct stenosis"} {"id":"HP:0007680","name":"Depigmented fundus"} {"id":"HP:0007685","name":"Peripheral retinal avascularization"} {"id":"HP:0007686","name":"Abnormal pupillary function"} {"id":"HP:0007687","name":"Unilateral ptosis"} {"id":"HP:0007688","name":"Absent rod-and cone-mediated responses on ERG"} {"id":"HP:0007690","name":"Map-dot-fingerprint corneal dystrophy"} {"id":"HP:0007691","name":"Short curly eyelashes"} {"id":"HP:0007692","name":"Nonnuclear polymorphic congenital cataract"} {"id":"HP:0007695","name":"Abnormal pupillary light reflex"} {"id":"HP:0007697","name":"Hypoplasia of the lower eyelids"} {"id":"HP:0007698","name":"Retinal pigment epithelial atrophy"} {"id":"HP:0007700","name":"Anterior segment dysgenesis"} {"id":"HP:0007702","name":"Pigmentary retinal deposits"} {"id":"HP:0007703","name":"Abnormal retinal pigmentation"} {"id":"HP:0007704","name":"Paroxysmal involuntary eye movements"} {"id":"HP:0007705","name":"Corneal degeneration"} {"id":"HP:0007707","name":"Congenital primary aphakia"} {"id":"HP:0007708","name":"Absent inner eyelashes"} {"id":"HP:0007709","name":"Band-shaped corneal dystrophy"} {"id":"HP:0007710","name":"Peripheral vitreous opacities"} {"id":"HP:0007712","name":"Choroidal dystrophy"} {"id":"HP:0007713","name":"Juvenile zonular cataracts"} {"id":"HP:0007715","name":"Weak extraocular muscles"} {"id":"HP:0007716","name":"Intraocular melanoma"} {"id":"HP:0007717","name":"Chronic irritative conjunctivitis"} {"id":"HP:0007720","name":"Flat cornea"} {"id":"HP:0007721","name":"Saccular conjunctival aneurysms"} {"id":"HP:0007722","name":"Loss of retinal pigment epithelium"} {"id":"HP:0007727","name":"Opacification of the corneal epithelium"} {"id":"HP:0007728","name":"Congenital miosis"} {"id":"HP:0007730","name":"Iris hypopigmentation"} {"id":"HP:0007731","name":"Chorioretinal dysplasia"} {"id":"HP:0007732","name":"Lacrimal gland hypoplasia"} {"id":"HP:0007733","name":"Laterally curved eyebrow"} {"id":"HP:0007734","name":"Enlarged lacrimal glands"} {"id":"HP:0007736","name":"Pericentral retinal dystrophy"} {"id":"HP:0007737","name":"Bony spicule pigmentary retinopathy"} {"id":"HP:0007738","name":"Uncontrolled eye movements"} {"id":"HP:0007739","name":"Mildly reduced visual acuity"} {"id":"HP:0007740","name":"Long eyelashes in irregular rows"} {"id":"HP:0007744","name":"Iridoretinal coloboma"} {"id":"HP:0007747","name":"Monocular horizontal nystagmus"} {"id":"HP:0007748","name":"Irido-fundal coloboma"} {"id":"HP:0007750","name":"Hypoplasia of the fovea"} {"id":"HP:0007754","name":"Macular dystrophy"} {"id":"HP:0007755","name":"Juvenile epithelial corneal dystrophy"} {"id":"HP:0007756","name":"Slitlike anterior chamber angles in children"} {"id":"HP:0007757","name":"Hypoplasia of choroid"} {"id":"HP:0007758","name":"Congenital visual impairment"} {"id":"HP:0007759","name":"Opacification of the corneal stroma"} {"id":"HP:0007760","name":"Crystalline corneal dystrophy"} {"id":"HP:0007761","name":"Pericentral scotoma"} {"id":"HP:0007763","name":"Retinal telangiectasia"} {"id":"HP:0007765","name":"Deep anterior chamber"} {"id":"HP:0007766","name":"Optic disc hypoplasia"} {"id":"HP:0007768","name":"Central retinal vessel vascular tortuosity"} {"id":"HP:0007769","name":"Peripheral retinal degeneration"} {"id":"HP:0007770","name":"Retinal hypoplasia"} {"id":"HP:0007772","name":"Impaired smooth pursuit"} {"id":"HP:0007773","name":"Vitreoretinal abnormalities"} {"id":"HP:0007774","name":"Hypoplasia of the ciliary body"} {"id":"HP:0007776","name":"Sparse lower eyelashes"} {"id":"HP:0007777","name":"Chorioretinal scars"} {"id":"HP:0007778","name":"Neovascularization of peripheral and posterior retina"} {"id":"HP:0007779","name":"Anterior segment of eye aplasia"} {"id":"HP:0007780","name":"Cortical pulverulent cataract"} {"id":"HP:0007782","name":"Peripheral retinal cone degeneration"} {"id":"HP:0007783","name":"Butterfly retinal pigment epithelial dystrophy"} {"id":"HP:0007786","name":"Lacunar retinal depigmentation"} {"id":"HP:0007787","name":"Posterior subcapsular cataract"} {"id":"HP:0007791","name":"Patchy atrophy of the retinal pigment epithelium"} {"id":"HP:0007792","name":"Microsaccadic pursuit"} {"id":"HP:0007793","name":"Macular retinal pigment epithelial mottling"} {"id":"HP:0007795","name":"Anterior cortical cataract"} {"id":"HP:0007797","name":"Retinal vascular malformation"} {"id":"HP:0007798","name":"Foveal dystrophy"} {"id":"HP:0007799","name":"Conjunctival whitish salt-like deposits"} {"id":"HP:0007800","name":"Increased axial globe length"} {"id":"HP:0007801","name":"Fishnet retinal pigmentation"} {"id":"HP:0007802","name":"Granular corneal dystrophy"} {"id":"HP:0007803","name":"Monochromacy"} {"id":"HP:0007807","name":"Optic nerve compression"} {"id":"HP:0007808","name":"Bilateral retinal coloboma"} {"id":"HP:0007809","name":"Punctate corneal dystrophy"} {"id":"HP:0007810","name":"Progressive bifocal chorioretinal atrophy"} {"id":"HP:0007811","name":"Horizontal pendular nystagmus"} {"id":"HP:0007812","name":"Herpetiform corneal ulceration"} {"id":"HP:0007813","name":"Nongranulomatous uveitis"} {"id":"HP:0007814","name":"Salt and pepper retinopathy"} {"id":"HP:0007815","name":"Abnormal distribution of retinal arterioles and venules"} {"id":"HP:0007817","name":"Horizontal supranuclear gaze palsy"} {"id":"HP:0007818","name":"Central heterochromia"} {"id":"HP:0007819","name":"Presenile cataracts"} {"id":"HP:0007820","name":"Atretic lacrimal punctum"} {"id":"HP:0007822","name":"Central retinal exudate"} {"id":"HP:0007824","name":"Total ophthalmoplegia"} {"id":"HP:0007827","name":"Nodular corneal dystrophy"} {"id":"HP:0007829","name":"Diffuse retinal cone degeneration"} {"id":"HP:0007830","name":"Adult-onset night blindness"} {"id":"HP:0007831","name":"Nonprogressive restrictive external ophthalmoplegia"} {"id":"HP:0007832","name":"Pigmentation of the sclera"} {"id":"HP:0007833","name":"Anterior chamber synechiae"} {"id":"HP:0007834","name":"Progressive cataract"} {"id":"HP:0007835","name":"S-shaped palpebral fissures"} {"id":"HP:0007836","name":"Mosaic corneal dystrophy"} {"id":"HP:0007838","name":"Progressive ptosis"} {"id":"HP:0007840","name":"Long upper eyelashes"} {"id":"HP:0007841","name":"Amyloid deposition in the vitreous humor"} {"id":"HP:0007843","name":"Attenuation of retinal blood vessels"} {"id":"HP:0007850","name":"Retinal vascular proliferation"} {"id":"HP:0007851","name":"Temporal displacement of maculae"} {"id":"HP:0007852","name":"Pericentral pigmentary retinopathy"} {"id":"HP:0007854","name":"Glaucomatous visual field defect"} {"id":"HP:0007856","name":"Punctate opacification of the cornea"} {"id":"HP:0007858","name":"Chorioretinal lacunae"} {"id":"HP:0007859","name":"Congenital horizontal nystagmus"} {"id":"HP:0007862","name":"Retinal calcification"} {"id":"HP:0007863","name":"Retinal lesions"} {"id":"HP:0007866","name":"Focal retinal infarction"} {"id":"HP:0007867","name":"Restrictive partial external ophthalmoplegia"} {"id":"HP:0007868","name":"Age-related macular degeneration"} {"id":"HP:0007869","name":"Peripheral retinopathy"} {"id":"HP:0007872","name":"Choroidal hemangiomata"} {"id":"HP:0007873","name":"Abnormally prominent line of Schwalbe"} {"id":"HP:0007874","name":"Almond-shaped palpebral fissure"} {"id":"HP:0007875","name":"Congenital blindness"} {"id":"HP:0007876","name":"Juvenile cortical cataract"} {"id":"HP:0007879","name":"Allergic conjunctivitis"} {"id":"HP:0007880","name":"Marginal corneal dystrophy"} {"id":"HP:0007881","name":"Central corneal dystrophy"} {"id":"HP:0007885","name":"Slowed horizontal saccades"} {"id":"HP:0007886","name":"Absent extraocular muscles"} {"id":"HP:0007889","name":"Iridescent posterior subcapsular cataract"} {"id":"HP:0007892","name":"Hypoplasia of the lacrimal puncta"} {"id":"HP:0007893","name":"Progressive retinal degeneration"} {"id":"HP:0007894","name":"Hypopigmentation of the fundus"} {"id":"HP:0007898","name":"Exudative retinopathy"} {"id":"HP:0007899","name":"Retinal nonattachment"} {"id":"HP:0007900","name":"Hypoplastic lacrimal duct"} {"id":"HP:0007901","name":"Retinal malformation"} {"id":"HP:0007902","name":"Vitreous hemorrhage"} {"id":"HP:0007903","name":"Pigmented paravenous chorioretinal atrophy"} {"id":"HP:0007905","name":"Abnormal iris vasculature"} {"id":"HP:0007906","name":"Increased intraocular pressure"} {"id":"HP:0007910","name":"Nonprogressive congenital retinal dystrophy"} {"id":"HP:0007911","name":"Congenital bilateral ptosis"} {"id":"HP:0007913","name":"Reticular retinal dystrophy"} {"id":"HP:0007915","name":"Polymorphous posterior corneal dystrophy"} {"id":"HP:0007917","name":"Tractional retinal detachment"} {"id":"HP:0007920","name":"Congenital chorioretinal dystrophy"} {"id":"HP:0007922","name":"Hypermyelinated retinal fibers"} {"id":"HP:0007923","name":"Foveal hyperplasia"} {"id":"HP:0007924","name":"Slow decrease in visual acuity"} {"id":"HP:0007925","name":"Lacrimal duct aplasia"} {"id":"HP:0007928","name":"Abnormal flash visual evoked potentials"} {"id":"HP:0007929","name":"Peripheral retinal detachment"} {"id":"HP:0007930","name":"Prominent epicanthal folds"} {"id":"HP:0007932","name":"Bilateral congenital mydriasis"} {"id":"HP:0007933","name":"Broad lateral eyebrow"} {"id":"HP:0007935","name":"Juvenile posterior subcapsular lenticular opacities"} {"id":"HP:0007936","name":"Restrictive external ophthalmoplegia"} {"id":"HP:0007937","name":"Honeycomb retinal degeneration"} {"id":"HP:0007939","name":"Blue cone monochromacy"} {"id":"HP:0007941","name":"Limited extraocular movements"} {"id":"HP:0007942","name":"Internal ophthalmoplegia"} {"id":"HP:0007943","name":"Congenital stapes ankylosis"} {"id":"HP:0007944","name":"Intermittent microsaccadic pursuits"} {"id":"HP:0007945","name":"Choroidal degeneration"} {"id":"HP:0007946","name":"Unilateral narrow palpebral fissure"} {"id":"HP:0007947","name":"Pericentral retinitis pigmentosa"} {"id":"HP:0007948","name":"Dense posterior cortical cataract"} {"id":"HP:0007949","name":"Progressive macular scarring"} {"id":"HP:0007950","name":"Peripapillary chorioretinal atrophy"} {"id":"HP:0007956","name":"Bilateral choroid coloboma"} {"id":"HP:0007957","name":"Corneal opacity"} {"id":"HP:0007958","name":"Optic atrophy from cranial nerve compression"} {"id":"HP:0007961","name":"Rarefaction of retinal pigmentation"} {"id":"HP:0007962","name":"Speckled corneal dystrophy"} {"id":"HP:0007963","name":"Macroreticular retinal dystrophy"} {"id":"HP:0007964","name":"Degenerative vitreoretinopathy"} {"id":"HP:0007965","name":"Absence of visual evoked potentials"} {"id":"HP:0007968","name":"Persistent hyperplastic primary vitreous"} {"id":"HP:0007970","name":"Congenital ptosis"} {"id":"HP:0007971","name":"Lamellar cataract"} {"id":"HP:0007973","name":"Retinal dysplasia"} {"id":"HP:0007975","name":"Hypometric horizontal saccades"} {"id":"HP:0007976","name":"Cerulean cataract"} {"id":"HP:0007979","name":"Gaze-evoked horizontal nystagmus"} {"id":"HP:0007980","name":"Absent retinal pigment epithelium"} {"id":"HP:0007981","name":"Concentric narrowing of visual fields"} {"id":"HP:0007982","name":"Central tapetoretinal dystrophy"} {"id":"HP:0007984","name":"Reduced amplitude of b-wave (ERG)"} {"id":"HP:0007985","name":"Retinal arteriolar occlusion"} {"id":"HP:0007986","name":"Increased retinal vascularity"} {"id":"HP:0007987","name":"Progressive visual field defects"} {"id":"HP:0007988","name":"Macular hypopigmentation"} {"id":"HP:0007989","name":"Intraretinal exudate"} {"id":"HP:0007990","name":"Hypoplastic iris stroma"} {"id":"HP:0007992","name":"Lattice retinal degeneration"} {"id":"HP:0007993","name":"Malformed lacrimal ducts"} {"id":"HP:0007994","name":"Peripheral visual field loss"} {"id":"HP:0008000","name":"Decreased corneal reflex"} {"id":"HP:0008001","name":"Foveal hyperpigmentation"} {"id":"HP:0008002","name":"Abnormality of macular pigmentation"} {"id":"HP:0008003","name":"Jerky ocular pursuit movements"} {"id":"HP:0008005","name":"Congenital corneal dystrophy"} {"id":"HP:0008007","name":"Primary congenital glaucoma"} {"id":"HP:0008008","name":"Progressive central visual loss"} {"id":"HP:0008009","name":"Three rows of eyelashes"} {"id":"HP:0008011","name":"Peripheral opacification of the cornea"} {"id":"HP:0008012","name":"Congenital myopia"} {"id":"HP:0008014","name":"Central fundal arteriolar microaneurysms"} {"id":"HP:0008017","name":"Depigmented lesions of the retinal pigment epithelium"} {"id":"HP:0008019","name":"Superior lens subluxation"} {"id":"HP:0008020","name":"Progressive cone degeneration"} {"id":"HP:0008024","name":"Congenital nuclear cataract"} {"id":"HP:0008026","name":"Horizontal opticokinetic nystagmus"} {"id":"HP:0008028","name":"Cystoid macular degeneration"} {"id":"HP:0008030","name":"Retinal arteritis"} {"id":"HP:0008031","name":"Posterior Y-sutural cataract"} {"id":"HP:0008033","name":"Congenital exotropia"} {"id":"HP:0008034","name":"Abnormal iris pigmentation"} {"id":"HP:0008035","name":"Retinitis pigmentosa inversa"} {"id":"HP:0008036","name":"Retinal pigmentary dystrophy"} {"id":"HP:0008037","name":"Absent anterior eye chamber"} {"id":"HP:0008038","name":"Aplastic/hypoplastic lacrimal glands"} {"id":"HP:0008039","name":"Subepithelial corneal opacities"} {"id":"HP:0008041","name":"Late onset congenital glaucoma"} {"id":"HP:0008043","name":"Retinal arteriolar constriction"} {"id":"HP:0008045","name":"Enlarged flash visual evoked potentials"} {"id":"HP:0008046","name":"Abnormality of the retinal vasculature"} {"id":"HP:0008047","name":"Abnormality of the vasculature of the eye"} {"id":"HP:0008048","name":"Abnormality of the line of Schwalbe"} {"id":"HP:0008049","name":"Abnormality of the extraocular muscles"} {"id":"HP:0008050","name":"Abnormality of the palpebral fissures"} {"id":"HP:0008051","name":"Abnormality of the retinal pigment epithelium"} {"id":"HP:0008052","name":"Abnormal retinal folds"} {"id":"HP:0008053","name":"Aplasia/Hypoplasia of the iris"} {"id":"HP:0008054","name":"Abnormality of the vasculature of the conjunctiva"} {"id":"HP:0008055","name":"Aplasia/Hypoplasia affecting the uvea"} {"id":"HP:0008056","name":"Aplasia/Hypoplasia affecting the eye"} {"id":"HP:0008057","name":"Aplasia/Hypoplasia affecting the fundus"} {"id":"HP:0008058","name":"Aplasia/Hypoplasia of the optic nerve"} {"id":"HP:0008059","name":"Aplasia/Hypoplasia of the macula"} {"id":"HP:0008060","name":"Aplasia/Hypoplasia of the fovea"} {"id":"HP:0008061","name":"Aplasia/Hypoplasia affecting the retina"} {"id":"HP:0008062","name":"Aplasia/Hypoplasia affecting the anterior segment of the eye"} {"id":"HP:0008063","name":"Aplasia/Hypoplasia of the lens"} {"id":"HP:0008064","name":"Ichthyosis"} {"id":"HP:0008065","name":"Aplasia/Hypoplasia of the skin"} {"id":"HP:0008066","name":"Abnormal blistering of the skin"} {"id":"HP:0008067","name":"Abnormally lax or hyperextensible skin"} {"id":"HP:0008069","name":"Neoplasm of the skin"} {"id":"HP:0008070","name":"Sparse hair"} {"id":"HP:0008071","name":"Maternal hypertension"} {"id":"HP:0008072","name":"Maternal virilization in pregnancy"} {"id":"HP:0008073","name":"Low maternal serum estriol"} {"id":"HP:0008074","name":"Metatarsal periosteal thickening"} {"id":"HP:0008075","name":"Progressive pes cavus"} {"id":"HP:0008076","name":"Osteoporotic tarsals"} {"id":"HP:0008078","name":"Thin metatarsal cortices"} {"id":"HP:0008079","name":"Absent fifth metatarsal"} {"id":"HP:0008080","name":"Hallux varus"} {"id":"HP:0008081","name":"Valgus foot deformity"} {"id":"HP:0008082","name":"Medial deviation of the foot"} {"id":"HP:0008083","name":"2nd-5th toe middle phalangeal hypoplasia"} {"id":"HP:0008087","name":"Nonossified fifth metatarsal"} {"id":"HP:0008089","name":"Abnormality of the fifth metatarsal bone"} {"id":"HP:0008090","name":"Ankylosis of feet small joints"} {"id":"HP:0008093","name":"Short 4th toe"} {"id":"HP:0008094","name":"Widely spaced toes"} {"id":"HP:0008095","name":"Osteolysis of talus"} {"id":"HP:0008096","name":"Medially deviated second toe"} {"id":"HP:0008097","name":"Partial fusion of tarsals"} {"id":"HP:0008102","name":"Expanded metatarsals with widened medullary cavities"} {"id":"HP:0008103","name":"Delayed tarsal ossification"} {"id":"HP:0008107","name":"Plantar crease between first and second toes"} {"id":"HP:0008108","name":"Advanced tarsal ossification"} {"id":"HP:0008110","name":"Equinovarus deformity"} {"id":"HP:0008111","name":"Broad distal hallux"} {"id":"HP:0008112","name":"Plantar flexion contractures"} {"id":"HP:0008113","name":"Multiple plantar creases"} {"id":"HP:0008114","name":"Metatarsal diaphyseal endosteal sclerosis"} {"id":"HP:0008115","name":"Clinodactyly of the 3rd toe"} {"id":"HP:0008116","name":"Flexion limitation of toes"} {"id":"HP:0008117","name":"Shortening of the talar neck"} {"id":"HP:0008119","name":"Deformed tarsal bones"} {"id":"HP:0008122","name":"Calcaneonavicular fusion"} {"id":"HP:0008124","name":"Talipes calcaneovarus"} {"id":"HP:0008125","name":"Second metatarsal posteriorly placed"} {"id":"HP:0008127","name":"Bipartite calcaneus"} {"id":"HP:0008131","name":"Tarsal stippling"} {"id":"HP:0008132","name":"Medial rotation of the medial malleolus"} {"id":"HP:0008133","name":"Distal tapering of metatarsals"} {"id":"HP:0008134","name":"Irregular tarsal ossification"} {"id":"HP:0008138","name":"Equinus calcaneus"} {"id":"HP:0008141","name":"Dislocation of toes"} {"id":"HP:0008142","name":"Delayed calcaneal ossification"} {"id":"HP:0008144","name":"Flattening of the talar dome"} {"id":"HP:0008148","name":"Impaired epinephrine-induced platelet aggregation"} {"id":"HP:0008150","name":"Elevated serum transaminases during infections"} {"id":"HP:0008151","name":"Prolonged prothrombin time"} {"id":"HP:0008153","name":"Periodic hypokalemic paresis"} {"id":"HP:0008155","name":"Mucopolysacchariduria"} {"id":"HP:0008158","name":"Hyperapobetalipoproteinemia"} {"id":"HP:0008160","name":"3-hydroxydicarboxylic aciduria"} {"id":"HP:0008161","name":"Absent leukocyte alkaline phosphatase"} {"id":"HP:0008162","name":"Asymptomatic hyperammonemia"} {"id":"HP:0008163","name":"Decreased circulating cortisol level"} {"id":"HP:0008165","name":"Reduced circulating T-helper cells"} {"id":"HP:0008166","name":"Decreased beta-galactosidase activity"} {"id":"HP:0008167","name":"Very long chain fatty acid accumulation"} {"id":"HP:0008169","name":"Reduced factor VII activity"} {"id":"HP:0008176","name":"Neonatal unconjugated hyperbilirubinemia"} {"id":"HP:0008178","name":"Abnormal cartilage matrix"} {"id":"HP:0008179","name":"Decreased electrooculogram (EOG)"} {"id":"HP:0008180","name":"Mildly elevated creatine phosphokinase"} {"id":"HP:0008181","name":"Abetalipoproteinemia"} {"id":"HP:0008182","name":"Adrenocortical hypoplasia"} {"id":"HP:0008185","name":"Precocious puberty in males"} {"id":"HP:0008186","name":"Adrenocortical cytomegaly"} {"id":"HP:0008187","name":"Absence of secondary sex characteristics"} {"id":"HP:0008188","name":"Thyroid dysgenesis"} {"id":"HP:0008189","name":"Insulin insensitivity"} {"id":"HP:0008191","name":"Thyroid agenesis"} {"id":"HP:0008193","name":"Primary gonadal insufficiency"} {"id":"HP:0008194","name":"Multiple pancreatic beta-cell adenomas"} {"id":"HP:0008197","name":"Absence of pubertal development"} {"id":"HP:0008198","name":"Congenital hypoparathyroidism"} {"id":"HP:0008200","name":"Primary hyperparathyroidism"} {"id":"HP:0008202","name":"Prolactin deficiency"} {"id":"HP:0008204","name":"Precocious puberty with Sertoli cell tumor"} {"id":"HP:0008205","name":"Insulin-dependent but ketosis-resistant diabetes"} {"id":"HP:0008207","name":"Primary adrenal insufficiency"} {"id":"HP:0008208","name":"Parathyroid hyperplasia"} {"id":"HP:0008209","name":"Premature ovarian failure"} {"id":"HP:0008211","name":"Parathyroid agenesis"} {"id":"HP:0008213","name":"Gonadotropin deficiency"} {"id":"HP:0008214","name":"Decreased serum estradiol"} {"id":"HP:0008216","name":"Adrenal gland dysgenesis"} {"id":"HP:0008220","name":"Hypocortisolemia"} {"id":"HP:0008221","name":"Adrenal hyperplasia"} {"id":"HP:0008222","name":"Female infertility"} {"id":"HP:0008223","name":"Compensated hypothyroidism"} {"id":"HP:0008225","name":"Thyroid follicular hyperplasia"} {"id":"HP:0008226","name":"Androgen insufficiency"} {"id":"HP:0008227","name":"Pituitary resistance to thyroid hormone"} {"id":"HP:0008229","name":"Thyroid lymphangiectasia"} {"id":"HP:0008230","name":"Decreased testosterone in males"} {"id":"HP:0008231","name":"Macronodular adrenal hyperplasia"} {"id":"HP:0008232","name":"Elevated follicle stimulating hormone"} {"id":"HP:0008233","name":"Decreased serum progesterone"} {"id":"HP:0008236","name":"Isosexual precocious puberty"} {"id":"HP:0008237","name":"Hypothalamic hypothyroidism"} {"id":"HP:0008239","name":"Adrenal medullary hypoplasia"} {"id":"HP:0008240","name":"Secondary growth hormone deficiency"} {"id":"HP:0008242","name":"Pseudohypoaldosteronism"} {"id":"HP:0008244","name":"Congenital adrenal hypoplasia"} {"id":"HP:0008245","name":"Pituitary hypothyroidism"} {"id":"HP:0008247","name":"Euthyroid hyperthyroxinemia"} {"id":"HP:0008249","name":"Thyroid hyperplasia"} {"id":"HP:0008250","name":"Infantile hypercalcemia"} {"id":"HP:0008251","name":"Congenital goiter"} {"id":"HP:0008255","name":"Transient neonatal diabetes mellitus"} {"id":"HP:0008256","name":"Adrenocortical adenoma"} {"id":"HP:0008258","name":"Congenital adrenal hyperplasia"} {"id":"HP:0008259","name":"Adrenocorticotropin (ACTH) receptor (ACTHR) defect"} {"id":"HP:0008261","name":"Pancreatic islet cell adenoma"} {"id":"HP:0008263","name":"Thyroid defect in oxidation and organification of iodide"} {"id":"HP:0008264","name":"Neutrophil inclusion bodies"} {"id":"HP:0008265","name":"Mitochondrial lysine transport defect"} {"id":"HP:0008269","name":"Increased red cell hemolysis by shear stress"} {"id":"HP:0008271","name":"Abnormal cartilage collagen"} {"id":"HP:0008272","name":"Renal tubular lysine transport defect"} {"id":"HP:0008273","name":"Transient aminoaciduria"} {"id":"HP:0008275","name":"Abnormal cone-mediated electroretinogram"} {"id":"HP:0008277","name":"Abnormality of zinc homeostasis"} {"id":"HP:0008278","name":"Cerebellar cortical atrophy"} {"id":"HP:0008279","name":"Transient hyperlipidemia"} {"id":"HP:0008281","name":"Acute hyperammonemia"} {"id":"HP:0008282","name":"Unconjugated hyperbilirubinemia"} {"id":"HP:0008283","name":"Fasting hyperinsulinemia"} {"id":"HP:0008285","name":"Transient hypophosphatemia"} {"id":"HP:0008288","name":"Nonketotic hyperglycinemia"} {"id":"HP:0008290","name":"Partial complement factor H deficiency"} {"id":"HP:0008291","name":"Pituitary corticotropic cell adenoma"} {"id":"HP:0008293","name":"Long-chain dicarboxylic aciduria"} {"id":"HP:0008297","name":"Transient hyperphenylalaninemia"} {"id":"HP:0008301","name":"Dermatan sulfate excretion in urine"} {"id":"HP:0008303","name":"Olivary degeneration"} {"id":"HP:0008305","name":"Exercise-induced myoglobinuria"} {"id":"HP:0008306","name":"Abnormal iron deposition in mitochondria"} {"id":"HP:0008309","name":"Medium chain dicarboxylic aciduria"} {"id":"HP:0008311","name":"Spinal cord posterior columns myelin loss"} {"id":"HP:0008314","name":"Decreased activity of mitochondrial complex II"} {"id":"HP:0008315","name":"Decreased plasma free carnitine"} {"id":"HP:0008316","name":"Abnormal mitochondria in muscle tissue"} {"id":"HP:0008318","name":"Elevated leukocyte alkaline phosphatase"} {"id":"HP:0008320","name":"Impaired collagen-induced platelet aggregation"} {"id":"HP:0008321","name":"Reduced factor X activity"} {"id":"HP:0008322","name":"Abnormal mitochondrial morphology"} {"id":"HP:0008323","name":"Abnormal rod and cone electroretinograms"} {"id":"HP:0008326","name":"Vitamin B6 deficiency"} {"id":"HP:0008327","name":"Microscopic nephrocalcinosis"} {"id":"HP:0008330","name":"Reduced von Willebrand factor activity"} {"id":"HP:0008331","name":"Elevated creatine kinase after exercise"} {"id":"HP:0008335","name":"Renal aminoaciduria"} {"id":"HP:0008336","name":"Complex organic aciduria"} {"id":"HP:0008338","name":"Partial functional complement factor D deficiency"} {"id":"HP:0008339","name":"Diaminoaciduria"} {"id":"HP:0008341","name":"Distal renal tubular acidosis"} {"id":"HP:0008344","name":"Elevated plasma branched chain amino acids"} {"id":"HP:0008345","name":"Hypoplasia of the iris dilator muscle"} {"id":"HP:0008346","name":"Increased red cell sickling tendency"} {"id":"HP:0008347","name":"Decreased activity of mitochondrial complex IV"} {"id":"HP:0008348","name":"Immunoglobulin IgG2 deficiency"} {"id":"HP:0008352","name":"Impaired platelet adhesion"} {"id":"HP:0008353","name":"Neutral hyperaminoaciduria"} {"id":"HP:0008354","name":"Factor X activation deficiency"} {"id":"HP:0008356","name":"Combined hyperlipidemia"} {"id":"HP:0008357","name":"Reduced factor XIII activity"} {"id":"HP:0008358","name":"Hyperprolinemia"} {"id":"HP:0008360","name":"Neonatal hypoproteinemia"} {"id":"HP:0008361","name":"Corticospinal tract pallor"} {"id":"HP:0008362","name":"Aplasia/Hypoplasia of the hallux"} {"id":"HP:0008363","name":"Aplasia/Hypoplasia of the tarsal bones"} {"id":"HP:0008364","name":"Abnormality of the calcaneus"} {"id":"HP:0008365","name":"Abnormality of the talus"} {"id":"HP:0008366","name":"Contractures involving the joints of the feet"} {"id":"HP:0008368","name":"Tarsal synostosis"} {"id":"HP:0008369","name":"Abnormal tarsal ossification"} {"id":"HP:0008371","name":"Abnormal metatarsal ossification"} {"id":"HP:0008372","name":"Abnormality of vitamin A metabolism"} {"id":"HP:0008373","name":"Puberty and gonadal disorders"} {"id":"HP:0008376","name":"Nasal, dysarthic speech"} {"id":"HP:0008383","name":"Slow-growing nails"} {"id":"HP:0008386","name":"Aplasia/Hypoplasia of the nails"} {"id":"HP:0008388","name":"Abnormality of the toenails"} {"id":"HP:0008390","name":"Recurrent loss of toenails and fingernails"} {"id":"HP:0008391","name":"Dystrophic fingernails"} {"id":"HP:0008392","name":"Subungual hyperkeratosis"} {"id":"HP:0008393","name":"Congenital curved nail of fourth toe"} {"id":"HP:0008394","name":"Congenital onychodystrophy"} {"id":"HP:0008396","name":"Chronic monilial nail infection"} {"id":"HP:0008398","name":"Hypoplastic fifth fingernail"} {"id":"HP:0008399","name":"Circumungual hyperkeratosis"} {"id":"HP:0008400","name":"Onycholysis of distal fingernails"} {"id":"HP:0008401","name":"Onychogryposis of toenails"} {"id":"HP:0008402","name":"Ridged fingernail"} {"id":"HP:0008404","name":"Nail dystrophy"} {"id":"HP:0008407","name":"Hyperconvex thumb nails"} {"id":"HP:0008410","name":"Subungual hyperkeratotic fragments"} {"id":"HP:0008414","name":"Lumbar kyphosis in infancy"} {"id":"HP:0008416","name":"Six lumbar vertebrae"} {"id":"HP:0008417","name":"Vertebral hypoplasia"} {"id":"HP:0008418","name":"Squared-off platyspondyly"} {"id":"HP:0008419","name":"Intervertebral disc degeneration"} {"id":"HP:0008420","name":"Punctate vertebral calcifications"} {"id":"HP:0008421","name":"Tall lumbar vertebral bodies"} {"id":"HP:0008422","name":"Vertebral wedging"} {"id":"HP:0008423","name":"Spinal dysplasia"} {"id":"HP:0008424","name":"Hypoplastic 5th lumbar vertebrae"} {"id":"HP:0008425","name":"Cuboid-shaped thoracolumbar vertebral bodies"} {"id":"HP:0008428","name":"Vertebral clefting"} {"id":"HP:0008430","name":"Anterior beaking of lumbar vertebrae"} {"id":"HP:0008432","name":"Anterior wedging of L1"} {"id":"HP:0008433","name":"Reversed usual vertebral column curves"} {"id":"HP:0008434","name":"Hypoplastic cervical vertebrae"} {"id":"HP:0008435","name":"Absent in utero ossification of vertebral bodies"} {"id":"HP:0008436","name":"Absent/hypoplastic coccyx"} {"id":"HP:0008437","name":"Bifid thoracic vertebrae"} {"id":"HP:0008438","name":"Vertebral arch anomaly"} {"id":"HP:0008439","name":"Lumbar hemivertebrae"} {"id":"HP:0008440","name":"C1-C2 vertebral abnormality"} {"id":"HP:0008441","name":"Herniation of intervertebral nuclei"} {"id":"HP:0008442","name":"Vertebral hyperostosis"} {"id":"HP:0008443","name":"Spinal deformities"} {"id":"HP:0008444","name":"Posterior wedging of vertebral bodies"} {"id":"HP:0008445","name":"Cervical spinal canal stenosis"} {"id":"HP:0008447","name":"Hypoplastic coccygeal vertebrae"} {"id":"HP:0008449","name":"Progressive cervical vertebral spine fusion"} {"id":"HP:0008450","name":"Narrow vertebral interpedicular distance"} {"id":"HP:0008451","name":"Posterior vertebral hypoplasia"} {"id":"HP:0008452","name":"Wafer-thin platyspondyly"} {"id":"HP:0008453","name":"Congenital kyphoscoliosis"} {"id":"HP:0008454","name":"Lumbar kyphosis"} {"id":"HP:0008455","name":"Dysplastic sacrum"} {"id":"HP:0008456","name":"C2-C3 subluxation"} {"id":"HP:0008457","name":"Caudal interpedicular narrowing"} {"id":"HP:0008458","name":"Progressive congenital scoliosis"} {"id":"HP:0008459","name":"Cervical vertebral agenesis"} {"id":"HP:0008460","name":"Hypoplastic spinal processes"} {"id":"HP:0008461","name":"Cervical vertebral facet hypoplasia"} {"id":"HP:0008462","name":"Cervical instability"} {"id":"HP:0008463","name":"Central vertebral hypoplasia"} {"id":"HP:0008464","name":"Absent spinous processes of lower thoracic and lumbar vertebrae"} {"id":"HP:0008465","name":"Absent vertebrae"} {"id":"HP:0008467","name":"Thoracic hemivertebrae"} {"id":"HP:0008468","name":"Abnormal sacral segmentation"} {"id":"HP:0008469","name":"Cervical vertebral dysplasia"} {"id":"HP:0008470","name":"Lower thoracic interpediculate narrowness"} {"id":"HP:0008472","name":"Prominent protruding coccyx"} {"id":"HP:0008473","name":"Narrow anterio-posterior vertebral body diameter"} {"id":"HP:0008475","name":"Hypoplastic sacral vertebrae"} {"id":"HP:0008476","name":"Irregular sclerotic endplates"} {"id":"HP:0008477","name":"Poorly ossified cervical vertebrae"} {"id":"HP:0008478","name":"Scheuermann-like vertebral changes"} {"id":"HP:0008479","name":"Hypoplastic vertebral bodies"} {"id":"HP:0008480","name":"Cervical spondylosis"} {"id":"HP:0008482","name":"Asymmetry of spinal facet joints"} {"id":"HP:0008483","name":"Cervical vertebral bodies with decreased anteroposterior diameter"} {"id":"HP:0008484","name":"Thoracolumbar interpediculate narrowness"} {"id":"HP:0008486","name":"Lumbar interpedicular narrowing"} {"id":"HP:0008488","name":"Anterior rounding of vertebral bodies"} {"id":"HP:0008489","name":"Spondylolisthesis at L5-S1"} {"id":"HP:0008490","name":"Sacral segmentation defect"} {"id":"HP:0008491","name":"Premature anterior fontanel closure"} {"id":"HP:0008494","name":"Inferior lens subluxation"} {"id":"HP:0008496","name":"Multiple rows of eyelashes"} {"id":"HP:0008497","name":"Congenital craniofacial dysostosis"} {"id":"HP:0008498","name":"No permanent dentition"} {"id":"HP:0008499","name":"High-grade hypermetropia"} {"id":"HP:0008501","name":"Median cleft lip and palate"} {"id":"HP:0008504","name":"Moderate sensorineural hearing impairment"} {"id":"HP:0008507","name":"Static ophthalmoparesis"} {"id":"HP:0008509","name":"Aged leonine appearance"} {"id":"HP:0008511","name":"Central posterior corneal opacity"} {"id":"HP:0008513","name":"Bilateral conductive hearing impairment"} {"id":"HP:0008515","name":"Aplasia/Hypoplasia of the vertebrae"} {"id":"HP:0008516","name":"Abnormality of the vertebral spinous processes"} {"id":"HP:0008517","name":"Aplasia/Hypoplasia of the sacrum"} {"id":"HP:0008518","name":"Aplasia/Hypoplasia involving the vertebral column"} {"id":"HP:0008519","name":"Abnormality of the coccyx"} {"id":"HP:0008523","name":"Posterior helix pit"} {"id":"HP:0008527","name":"Congenital sensorineural hearing impairment"} {"id":"HP:0008528","name":"Long hairs growing from helix of pinna"} {"id":"HP:0008529","name":"Absence of acoustic reflex"} {"id":"HP:0008537","name":"Cleft at the superior portion of the pinna"} {"id":"HP:0008541","name":"Superiorly displaced ears"} {"id":"HP:0008542","name":"Low-frequency hearing loss"} {"id":"HP:0008544","name":"Abnormally folded helix"} {"id":"HP:0008551","name":"Microtia"} {"id":"HP:0008554","name":"Cochlear malformation"} {"id":"HP:0008555","name":"Absent vestibular function"} {"id":"HP:0008559","name":"Hypoplastic superior helix"} {"id":"HP:0008568","name":"Vestibular areflexia"} {"id":"HP:0008569","name":"Microtia, second degree"} {"id":"HP:0008572","name":"External ear malformation"} {"id":"HP:0008573","name":"Low-frequency sensorineural hearing impairment"} {"id":"HP:0008577","name":"Underfolded helix"} {"id":"HP:0008583","name":"Underfolded superior helices"} {"id":"HP:0008586","name":"Hypoplasia of the cochlea"} {"id":"HP:0008587","name":"Mild neurosensory hearing impairment"} {"id":"HP:0008588","name":"Slit-like opening of the exterior auditory meatus"} {"id":"HP:0008589","name":"Hypoplastic helices"} {"id":"HP:0008591","name":"Congenital conductive hearing impairment"} {"id":"HP:0008593","name":"Prominent antitragus"} {"id":"HP:0008596","name":"Postlingual sensorineural hearing impairment"} {"id":"HP:0008598","name":"Mild conductive hearing impairment"} {"id":"HP:0008605","name":"Unilateral external ear deformity"} {"id":"HP:0008606","name":"Supraauricular pit"} {"id":"HP:0008607","name":"Progressive conductive hearing impairment"} {"id":"HP:0008608","name":"Hypertrophic auricular cartilage"} {"id":"HP:0008609","name":"Morphological abnormality of the middle ear"} {"id":"HP:0008610","name":"Infantile sensorineural hearing impairment"} {"id":"HP:0008615","name":"Adult onset sensorineural hearing impairment"} {"id":"HP:0008619","name":"Bilateral sensorineural hearing impairment"} {"id":"HP:0008625","name":"Severe sensorineural hearing impairment"} {"id":"HP:0008628","name":"Abnormality of the stapes"} {"id":"HP:0008629","name":"Pulsatile tinnitus"} {"id":"HP:0008631","name":"Ureteral dysgenesis"} {"id":"HP:0008633","name":"Absent gonadal tissue"} {"id":"HP:0008635","name":"Hypertrophy of the urinary bladder"} {"id":"HP:0008636","name":"Lobular glomerulopathy"} {"id":"HP:0008639","name":"Gonadal hypoplasia"} {"id":"HP:0008640","name":"Congenital macroorchidism"} {"id":"HP:0008643","name":"Nephroblastomatosis"} {"id":"HP:0008647","name":"Pubertal developmental failure in females"} {"id":"HP:0008648","name":"Anteriorly displaced urethral meatus"} {"id":"HP:0008651","name":"Uric acid urolithiasis independent of gout"} {"id":"HP:0008652","name":"Autonomic erectile dysfunction"} {"id":"HP:0008653","name":"Crescentic glomerulonephritis"} {"id":"HP:0008655","name":"Aplasia/Hypoplasia of the fallopian tube"} {"id":"HP:0008656","name":"Incomplete male pseudohermaphroditism"} {"id":"HP:0008659","name":"Multiple small medullary renal cysts"} {"id":"HP:0008660","name":"Renotubular dysgenesis"} {"id":"HP:0008661","name":"Urethral stenosis"} {"id":"HP:0008663","name":"Renal sarcoma"} {"id":"HP:0008664","name":"Urethral sphincter sclerosis"} {"id":"HP:0008665","name":"Clitoral hypertrophy"} {"id":"HP:0008666","name":"Impaired histidine renal tubular absorption"} {"id":"HP:0008668","name":"Gonadal dysgenesis, male"} {"id":"HP:0008669","name":"Abnormal spermatogenesis"} {"id":"HP:0008670","name":"Partial vaginal septum"} {"id":"HP:0008672","name":"Calcium oxalate nephrolithiasis"} {"id":"HP:0008675","name":"Enlarged polycystic ovaries"} {"id":"HP:0008676","name":"Congenital megaureter"} {"id":"HP:0008677","name":"Congenital nephrotic syndrome"} {"id":"HP:0008678","name":"Renal hypoplasia/aplasia"} {"id":"HP:0008682","name":"Acute tubular necrosis"} {"id":"HP:0008683","name":"Enlarged labia minora"} {"id":"HP:0008684","name":"Aplasia/hypoplasia of the uterus"} {"id":"HP:0008687","name":"Hypoplasia of the prostate"} {"id":"HP:0008689","name":"Bilateral cryptorchidism"} {"id":"HP:0008691","name":"Solitary bladder diverticulum"} {"id":"HP:0008694","name":"Hypertrophic labia minora"} {"id":"HP:0008695","name":"Transient nephrotic syndrome"} {"id":"HP:0008696","name":"Renal hamartoma"} {"id":"HP:0008697","name":"Hypoplasia of the fallopian tube"} {"id":"HP:0008702","name":"Absent internal genitalia"} {"id":"HP:0008703","name":"Gonadal calcification"} {"id":"HP:0008705","name":"Ureteral triplication"} {"id":"HP:0008706","name":"Distal urethral duplication"} {"id":"HP:0008707","name":"Absent scrotum"} {"id":"HP:0008708","name":"Partial development of the penile shaft"} {"id":"HP:0008711","name":"Benign prostatic hyperplasia"} {"id":"HP:0008714","name":"Ureterovesical stenosis"} {"id":"HP:0008715","name":"Testicular dysgenesis"} {"id":"HP:0008716","name":"Urethrovaginal fistula"} {"id":"HP:0008717","name":"Unilateral renal atrophy"} {"id":"HP:0008718","name":"Unilateral renal dysplasia"} {"id":"HP:0008720","name":"Primary testicular failure"} {"id":"HP:0008722","name":"Urethral diverticulum"} {"id":"HP:0008723","name":"Gonadal dysgenesis with female appearance, male"} {"id":"HP:0008724","name":"Hypoplasia of the ovary"} {"id":"HP:0008726","name":"Hypoplasia of the vagina"} {"id":"HP:0008729","name":"Absence of labia majora"} {"id":"HP:0008730","name":"Female external genitalia in individual with 46,XY karyotype"} {"id":"HP:0008732","name":"Renal hypophosphatemia"} {"id":"HP:0008733","name":"Dysplastic testes"} {"id":"HP:0008734","name":"Decreased testicular size"} {"id":"HP:0008736","name":"Hypoplasia of penis"} {"id":"HP:0008738","name":"Partially duplicated kidney"} {"id":"HP:0008739","name":"Labial pseudohypertrophy"} {"id":"HP:0008740","name":"Longitudinal vaginal septum"} {"id":"HP:0008742","name":"Prominent prostate median bar"} {"id":"HP:0008743","name":"Coronal hypospadias"} {"id":"HP:0008744","name":"Abnormality of the aryepiglottic fold"} {"id":"HP:0008747","name":"Cartilaginous ossification of larynx"} {"id":"HP:0008749","name":"Laryngeal hypoplasia"} {"id":"HP:0008750","name":"Laryngeal atresia"} {"id":"HP:0008751","name":"Laryngeal cleft"} {"id":"HP:0008752","name":"Laryngeal cartilage malformation"} {"id":"HP:0008753","name":"Aplasia of the epiglottis"} {"id":"HP:0008754","name":"Laryngeal calcification"} {"id":"HP:0008755","name":"Laryngotracheomalacia"} {"id":"HP:0008756","name":"Bowing of the vocal cords"} {"id":"HP:0008757","name":"Unilateral vocal cord paralysis"} {"id":"HP:0008760","name":"Violent behavior"} {"id":"HP:0008762","name":"Repetitive compulsive behavior"} {"id":"HP:0008763","name":"No social interaction"} {"id":"HP:0008765","name":"Auditory hallucinations"} {"id":"HP:0008767","name":"Self-mutilation of tongue and lips due to involuntary movements"} {"id":"HP:0008768","name":"Inappropriate sexual behavior"} {"id":"HP:0008770","name":"Obsessive-compulsive trait"} {"id":"HP:0008771","name":"Aplasia/Hypoplasia of the ear"} {"id":"HP:0008772","name":"Aplasia/Hypoplasia of the external ear"} {"id":"HP:0008773","name":"Aplasia/Hypoplasia of the middle ear"} {"id":"HP:0008774","name":"Aplasia/Hypoplasia of the inner ear"} {"id":"HP:0008775","name":"Abnormality of the prostate"} {"id":"HP:0008776","name":"Abnormality of the renal artery"} {"id":"HP:0008777","name":"Abnormality of the vocal cords"} {"id":"HP:0008780","name":"Congenital bilateral hip dislocation"} {"id":"HP:0008783","name":"Wide proximal femoral metaphysis"} {"id":"HP:0008784","name":"Wide capital femoral epiphyses"} {"id":"HP:0008785","name":"Delayed ossification of pubic rami"} {"id":"HP:0008786","name":"Iliac crest serration"} {"id":"HP:0008788","name":"Delayed pubic bone ossification"} {"id":"HP:0008789","name":"Cone-shaped capital femoral epiphysis"} {"id":"HP:0008794","name":"Dysplastic iliac wings"} {"id":"HP:0008796","name":"Externally rotated hips"} {"id":"HP:0008797","name":"Early ossification of capital femoral epiphyses"} {"id":"HP:0008798","name":"Widened sacrosciatic notch"} {"id":"HP:0008800","name":"Limited hip movement"} {"id":"HP:0008801","name":"Hypoplasia of the lesser trochanter"} {"id":"HP:0008802","name":"Hypoplasia of the femoral head"} {"id":"HP:0008803","name":"Narrow sacroiliac notch"} {"id":"HP:0008804","name":"Broad femoral head"} {"id":"HP:0008807","name":"Acetabular dysplasia"} {"id":"HP:0008808","name":"High iliac wings"} {"id":"HP:0008812","name":"Flattened femoral head"} {"id":"HP:0008817","name":"Aplastic pubic bones"} {"id":"HP:0008818","name":"Large iliac wings"} {"id":"HP:0008819","name":"Narrow femoral neck"} {"id":"HP:0008820","name":"Absent ossification of capital femoral epiphysis"} {"id":"HP:0008821","name":"Hypoplastic inferior ilia"} {"id":"HP:0008822","name":"Hypoplastic ischiopubic rami"} {"id":"HP:0008823","name":"Hypoplastic inferior pubic rami"} {"id":"HP:0008824","name":"Hypoplastic iliac body"} {"id":"HP:0008826","name":"Dislocation of the femoral head"} {"id":"HP:0008828","name":"Delayed proximal femoral epiphyseal ossification"} {"id":"HP:0008829","name":"Delayed femoral head ossification"} {"id":"HP:0008830","name":"Hypoplastic pubic rami"} {"id":"HP:0008833","name":"Irregular acetabular roof"} {"id":"HP:0008835","name":"Multicentric femoral head ossification"} {"id":"HP:0008838","name":"Stippled calcification proximal humeral epiphyses"} {"id":"HP:0008839","name":"Hypoplastic pelvis"} {"id":"HP:0008843","name":"Hip osteoarthritis"} {"id":"HP:0008845","name":"Mesomelic short stature"} {"id":"HP:0008846","name":"Severe intrauterine growth retardation"} {"id":"HP:0008848","name":"Moderately short stature"} {"id":"HP:0008850","name":"Severe postnatal growth retardation"} {"id":"HP:0008855","name":"Moderate postnatal growth retardation"} {"id":"HP:0008857","name":"Neonatal short-trunk short stature"} {"id":"HP:0008866","name":"Failure to thrive secondary to recurrent infections"} {"id":"HP:0008872","name":"Feeding difficulties in infancy"} {"id":"HP:0008873","name":"Disproportionate short-limb short stature"} {"id":"HP:0008883","name":"Mild intrauterine growth retardation"} {"id":"HP:0008887","name":"Adipose tissue loss"} {"id":"HP:0008890","name":"Severe short-limb dwarfism"} {"id":"HP:0008897","name":"Postnatal growth retardation"} {"id":"HP:0008905","name":"Rhizomelia"} {"id":"HP:0008909","name":"Lethal short-limbed short stature"} {"id":"HP:0008915","name":"Childhood-onset truncal obesity"} {"id":"HP:0008921","name":"Neonatal short-limb short stature"} {"id":"HP:0008922","name":"Childhood-onset short-trunk short stature"} {"id":"HP:0008929","name":"Asymmetric short stature"} {"id":"HP:0008935","name":"Generalized neonatal hypotonia"} {"id":"HP:0008936","name":"Muscular hypotonia of the trunk"} {"id":"HP:0008940","name":"Generalized lymphadenopathy"} {"id":"HP:0008942","name":"Acute rhabdomyolysis"} {"id":"HP:0008944","name":"Distal lower limb amyotrophy"} {"id":"HP:0008945","name":"Loss of ability to walk in early childhood"} {"id":"HP:0008946","name":"Pelvic girdle amyotrophy"} {"id":"HP:0008947","name":"Infantile muscular hypotonia"} {"id":"HP:0008948","name":"Proximal upper limb amyotrophy"} {"id":"HP:0008952","name":"Shoulder muscle hypoplasia"} {"id":"HP:0008953","name":"Pectoralis major hypoplasia"} {"id":"HP:0008954","name":"Intrinsic hand muscle atrophy"} {"id":"HP:0008955","name":"Progressive distal muscular atrophy"} {"id":"HP:0008956","name":"Proximal lower limb amyotrophy"} {"id":"HP:0008959","name":"Distal upper limb muscle weakness"} {"id":"HP:0008962","name":"Calf muscle hypoplasia"} {"id":"HP:0008963","name":"Tibialis muscle weakness"} {"id":"HP:0008964","name":"Nonprogressive muscular atrophy"} {"id":"HP:0008967","name":"Exercise-induced muscle stiffness"} {"id":"HP:0008968","name":"Muscle hypertrophy of the lower extremities"} {"id":"HP:0008969","name":"Leg muscle stiffness"} {"id":"HP:0008970","name":"Scapulohumeral muscular dystrophy"} {"id":"HP:0008972","name":"Decreased activity of mitochondrial respiratory chain"} {"id":"HP:0008978","name":"Necrotizing myopathy"} {"id":"HP:0008981","name":"Calf muscle hypertrophy"} {"id":"HP:0008984","name":"Neck muscle hypoplasia"} {"id":"HP:0008985","name":"Increased intramuscular fat"} {"id":"HP:0008986","name":"Agenesis of the diaphragm"} {"id":"HP:0008988","name":"Pelvic girdle muscle atrophy"} {"id":"HP:0008991","name":"Exercise-induced leg cramps"} {"id":"HP:0008993","name":"Increased intraabdominal fat"} {"id":"HP:0008994","name":"Proximal muscle weakness in lower limbs"} {"id":"HP:0008997","name":"Proximal muscle weakness in upper limbs"} {"id":"HP:0008998","name":"Pectoralis hypoplasia"} {"id":"HP:0009002","name":"Loss of truncal subcutaneous adipose tissue"} {"id":"HP:0009003","name":"Increased subcutaneous truncal adipose tissue"} {"id":"HP:0009004","name":"Hypoplasia of the musculature"} {"id":"HP:0009005","name":"Weakness of the intrinsic hand muscles"} {"id":"HP:0009007","name":"Hypoplastic biceps"} {"id":"HP:0009011","name":"Hypoplasia of serratus anterior muscle"} {"id":"HP:0009013","name":"Congenital absence of gluteal muscles"} {"id":"HP:0009016","name":"Upper limb muscle hypoplasia"} {"id":"HP:0009017","name":"Loss of gluteal subcutaneous adipose tissue"} {"id":"HP:0009019","name":"Progressive loss of facial adipose tissue"} {"id":"HP:0009020","name":"Exercise-induced muscle fatigue"} {"id":"HP:0009023","name":"Abdominal wall muscle weakness"} {"id":"HP:0009025","name":"Increased connective tissue"} {"id":"HP:0009026","name":"Hypoplasia of latissimus dorsi muscle"} {"id":"HP:0009027","name":"Foot dorsiflexor weakness"} {"id":"HP:0009028","name":"Generalized weakness of limb muscles"} {"id":"HP:0009031","name":"Amyotrophy of ankle musculature"} {"id":"HP:0009037","name":"Segmental spinal muscular atrophy"} {"id":"HP:0009042","name":"Marked muscular hypertrophy"} {"id":"HP:0009045","name":"Exercise-induced rhabdomyolysis"} {"id":"HP:0009046","name":"Difficulty running"} {"id":"HP:0009049","name":"Peroneal muscle atrophy"} {"id":"HP:0009050","name":"Quadriceps muscle atrophy"} {"id":"HP:0009051","name":"Increased muscle glycogen content"} {"id":"HP:0009053","name":"Distal lower limb muscle weakness"} {"id":"HP:0009054","name":"Scapuloperoneal myopathy"} {"id":"HP:0009055","name":"Generalized limb muscle atrophy"} {"id":"HP:0009056","name":"Loss of subcutaneous adipose tissue from upper limbs"} {"id":"HP:0009058","name":"Increased muscle lipid content"} {"id":"HP:0009059","name":"Congenital generalized lipodystrophy"} {"id":"HP:0009060","name":"Scapular muscle atrophy"} {"id":"HP:0009062","name":"Infantile axial hypotonia"} {"id":"HP:0009063","name":"Progressive distal muscle weakness"} {"id":"HP:0009064","name":"Generalized lipodystrophy"} {"id":"HP:0009067","name":"Progressive spinal muscular atrophy"} {"id":"HP:0009069","name":"Lethal infantile mitochondrial myopathy"} {"id":"HP:0009071","name":"Inflammatory myopathy"} {"id":"HP:0009072","name":"Decreased Achilles reflex"} {"id":"HP:0009073","name":"Progressive proximal muscle weakness"} {"id":"HP:0009077","name":"Weakness of long finger extensor muscles"} {"id":"HP:0009084","name":"Midline notch of upper alveolar ridge"} {"id":"HP:0009085","name":"Alveolar ridge overgrowth"} {"id":"HP:0009087","name":"Posteriorly placed tongue"} {"id":"HP:0009088","name":"Speech articulation difficulties"} {"id":"HP:0009092","name":"Progressive alveolar ridge hypertropy"} {"id":"HP:0009094","name":"Cleft lower alveolar ridge"} {"id":"HP:0009098","name":"Chronic oral candidiasis"} {"id":"HP:0009099","name":"Median cleft palate"} {"id":"HP:0009100","name":"Thick anterior alveolar ridges"} {"id":"HP:0009101","name":"Submucous cleft lip"} {"id":"HP:0009102","name":"Anterior open-bite malocclusion"} {"id":"HP:0009103","name":"Aplasia/Hypoplasia involving the pelvis"} {"id":"HP:0009104","name":"Aplasia/Hypoplasia of the pubic bone"} {"id":"HP:0009105","name":"Abnormal ossification of the pubic bone"} {"id":"HP:0009106","name":"Abnormal pelvis bone ossification"} {"id":"HP:0009107","name":"Abnormal ossification involving the femoral head and neck"} {"id":"HP:0009108","name":"Aplasia/Hypoplasia involving the femoral head and neck"} {"id":"HP:0009109","name":"Denervation of the diaphragm"} {"id":"HP:0009110","name":"Diaphragmatic eventration"} {"id":"HP:0009112","name":"Absent left hemidiaphragm"} {"id":"HP:0009113","name":"Diaphragmatic weakness"} {"id":"HP:0009115","name":"Aplasia/hypoplasia involving the skeleton"} {"id":"HP:0009116","name":"Aplasia/Hypoplasia involving bones of the skull"} {"id":"HP:0009117","name":"Aplasia/Hypoplasia of the maxilla"} {"id":"HP:0009118","name":"Aplasia/Hypoplasia of the mandible"} {"id":"HP:0009119","name":"Aplasia/Hypoplasia of the frontal sinuses"} {"id":"HP:0009120","name":"Aplasia/Hypoplasia involving the sinuses"} {"id":"HP:0009121","name":"Abnormal axial skeleton morphology"} {"id":"HP:0009122","name":"Aplasia/hypoplasia affecting bones of the axial skeleton"} {"id":"HP:0009123","name":"Mixed hypo- and hyperpigmentation of the skin"} {"id":"HP:0009124","name":"Abnormality of adipose tissue"} {"id":"HP:0009125","name":"Lipodystrophy"} {"id":"HP:0009126","name":"Increased adipose tissue"} {"id":"HP:0009127","name":"Abnormality of the musculature of the limbs"} {"id":"HP:0009128","name":"Aplasia/Hypoplasia involving the musculature of the extremities"} {"id":"HP:0009129","name":"Upper limb amyotrophy"} {"id":"HP:0009130","name":"Hand muscle atrophy"} {"id":"HP:0009131","name":"Abnormality of the musculature of the thorax"} {"id":"HP:0009132","name":"Abnormal tarsal bone mineral density"} {"id":"HP:0009134","name":"Osteolysis involving bones of the feet"} {"id":"HP:0009136","name":"Duplication involving bones of the feet"} {"id":"HP:0009138","name":"Synostosis involving bones of the lower limbs"} {"id":"HP:0009139","name":"Osteolysis involving bones of the lower limbs"} {"id":"HP:0009140","name":"Synostosis involving bones of the feet"} {"id":"HP:0009141","name":"Depletion of mitochondrial DNA in muscle tissue"} {"id":"HP:0009142","name":"Duplication of bones involving the upper extremities"} {"id":"HP:0009144","name":"Supernumerary bones of the axial skeleton"} {"id":"HP:0009145","name":"Abnormality of cerebral artery"} {"id":"HP:0009147","name":"Enlarged epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009148","name":"Small epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009149","name":"Triangular epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009150","name":"Abnormality of the proximal phalanx of the 5th finger"} {"id":"HP:0009152","name":"Abnormality of the epiphyses of the 5th finger"} {"id":"HP:0009153","name":"Abnormality of the epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009154","name":"Triangular epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009155","name":"Cone-shaped epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009157","name":"Ivory epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009158","name":"Enlarged epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009159","name":"Small epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009160","name":"Absent epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009161","name":"Aplasia/Hypoplasia of the middle phalanx of the 5th finger"} {"id":"HP:0009162","name":"Absent middle phalanx of 5th finger"} {"id":"HP:0009164","name":"Abnormal calcification of the carpal bones"} {"id":"HP:0009165","name":"Stippling of the epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009166","name":"Fragmentation of the epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009167","name":"Irregular epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009168","name":"Bullet-shaped middle phalanx of the 5th finger"} {"id":"HP:0009169","name":"Broad middle phalanx of the 5th finger"} {"id":"HP:0009170","name":"Osteolytic defects of the middle phalanx of the 5th finger"} {"id":"HP:0009171","name":"Triangular epiphyses of the metacarpals"} {"id":"HP:0009172","name":"Abnormality of the phalanges of the 4th finger"} {"id":"HP:0009173","name":"Curved middle phalanx of the 5th finger"} {"id":"HP:0009174","name":"Abnormality of the epiphyses of the 4th finger"} {"id":"HP:0009175","name":"Patchy sclerosis of the middle phalanx of the 5th finger"} {"id":"HP:0009177","name":"Proximal/middle symphalangism of 5th finger"} {"id":"HP:0009178","name":"Symphalangism of middle phalanx of 5th finger"} {"id":"HP:0009179","name":"Deviation of the 5th finger"} {"id":"HP:0009180","name":"Ulnar deviation of the 5th finger"} {"id":"HP:0009182","name":"Triangular shaped middle phalanx of the 5th finger"} {"id":"HP:0009183","name":"Joint contracture of the 5th finger"} {"id":"HP:0009184","name":"Contracture of the distal interphalangeal joint of the 5th finger"} {"id":"HP:0009185","name":"Contracture of the proximal interphalangeal joint of the 5th finger"} {"id":"HP:0009186","name":"Contracture of the metacarpophalangeal joint of the 5th finger"} {"id":"HP:0009187","name":"Bracket epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009188","name":"Pseudoepiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009189","name":"Fragmentation of the metacarpal epiphyses"} {"id":"HP:0009190","name":"Irregular epiphyses of the metacarpals"} {"id":"HP:0009191","name":"Ivory epiphyses of the metacarpals"} {"id":"HP:0009192","name":"Aplasia/Hypoplasia of the proximal phalanx of the 5th finger"} {"id":"HP:0009193","name":"Pseudoepiphyses of the metacarpals"} {"id":"HP:0009194","name":"Small epiphyses of the metacarpals"} {"id":"HP:0009195","name":"Epiphyseal stippling of the metacarpals"} {"id":"HP:0009196","name":"Absent metacarpal epiphyses"} {"id":"HP:0009197","name":"Bracket epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009198","name":"Abnormality of the epiphysis of the distal phalanx of the 5th finger"} {"id":"HP:0009199","name":"Irregular epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009200","name":"Pseudoepiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009201","name":"Stippling of the epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009202","name":"Fragmentation of the epiphysis of the proximal phalanx of the 5th finger"} {"id":"HP:0009203","name":"Absent epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009204","name":"Bracket epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009205","name":"Cone-shaped epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009206","name":"Enlarged epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009207","name":"Fragmentation of the epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009208","name":"Irregular epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009209","name":"Ivory epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009210","name":"Pseudoepiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009211","name":"Small epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009212","name":"Stippling of the epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009213","name":"Triangular epiphysis of the middle phalanx of the 5th finger"} {"id":"HP:0009214","name":"Absent epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009215","name":"Bracket epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009216","name":"Cone-shaped epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009217","name":"Enlarged epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009218","name":"Fragmentation of the epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009219","name":"Irregular epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009220","name":"Ivory epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009221","name":"Pseudoepiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009222","name":"Small epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009223","name":"Stippling of the epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009224","name":"Triangular epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009225","name":"Aplasia of the proximal phalanx of the 5th finger"} {"id":"HP:0009226","name":"Short proximal phalanx of the 5th finger"} {"id":"HP:0009227","name":"Broad proximal phalanx of the 5th finger"} {"id":"HP:0009228","name":"Bullet-shaped proximal phalanx of the 5th finger"} {"id":"HP:0009229","name":"Curved proximal phalanx of the 5th finger"} {"id":"HP:0009230","name":"Osteolytic defects of the proximal phalanx of the 5th finger"} {"id":"HP:0009231","name":"Patchy sclerosis of the proximal phalanx of the 5th finger"} {"id":"HP:0009232","name":"Symphalangism affecting the proximal phalanx of the 5th finger"} {"id":"HP:0009233","name":"Triangular shaped proximal phalanx of the 5th finger"} {"id":"HP:0009234","name":"Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal"} {"id":"HP:0009236","name":"Rhomboid or triangular shaped 5th finger proximal phalanx"} {"id":"HP:0009237","name":"Short 5th finger"} {"id":"HP:0009238","name":"Aplasia of the 5th finger"} {"id":"HP:0009239","name":"Aplasia/Hypoplasia of the distal phalanx of the 5th finger"} {"id":"HP:0009240","name":"Broad distal phalanx of the 5th finger"} {"id":"HP:0009241","name":"Bullet-shaped distal phalanx of the 5th finger"} {"id":"HP:0009242","name":"Osteolytic defects of the distal phalanx of the 5th finger"} {"id":"HP:0009243","name":"Patchy sclerosis of the distal phalanx of the 5th finger"} {"id":"HP:0009244","name":"Distal/middle symphalangism of 5th finger"} {"id":"HP:0009245","name":"Triangular shaped distal phalanx of the 5th finger"} {"id":"HP:0009246","name":"Aplasia of the distal phalanx of the 5th finger"} {"id":"HP:0009247","name":"Abnormality of the epiphysis of the middle phalanx of the 4th finger"} {"id":"HP:0009248","name":"Abnormality of the epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009249","name":"Abnormality of the epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009250","name":"Absent epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009251","name":"Bracket epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009252","name":"Cone-shaped epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009253","name":"Enlarged epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009254","name":"Fragmentation of the epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009255","name":"Irregular epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009256","name":"Ivory epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009257","name":"Pseudoepiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009258","name":"Small epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009259","name":"Stippling of the epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009260","name":"Triangular epiphysis of the distal phalanx of the 4th finger"} {"id":"HP:0009261","name":"Absent epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009262","name":"Bracket epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009263","name":"Cone-shaped epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009264","name":"Enlarged epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009265","name":"Fragmentation of the epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009266","name":"Irregular epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009267","name":"Ivory epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009268","name":"Pseudoepiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009269","name":"Small epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009270","name":"Stippling of the epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009271","name":"Triangular epiphysis of the proximal phalanx of the 4th finger"} {"id":"HP:0009272","name":"Aplasia/Hypoplasia of the 4th finger"} {"id":"HP:0009273","name":"Deviation of the 4th finger"} {"id":"HP:0009274","name":"Joint contracture of the 4th finger"} {"id":"HP:0009275","name":"Contracture of the distal interphalangeal joint of the 4th finger"} {"id":"HP:0009276","name":"Contracture of the proximal interphalangeal joint of the 4th finger"} {"id":"HP:0009277","name":"Contracture of the metacarpophalangeal joint of the 4th finger"} {"id":"HP:0009278","name":"Ulnar deviation of the 4th finger"} {"id":"HP:0009279","name":"Radial deviation of the 4th finger"} {"id":"HP:0009280","name":"Short 4th finger"} {"id":"HP:0009281","name":"Aplasia of the 4th finger"} {"id":"HP:0009282","name":"Abnormality of the distal phalanx of the 4th finger"} {"id":"HP:0009283","name":"Abnormality of the middle phalanx of the 4th finger"} {"id":"HP:0009284","name":"Abnormality of the proximal phalanx of the 4th finger"} {"id":"HP:0009285","name":"Curved phalanges of the 4th finger"} {"id":"HP:0009286","name":"Curved distal phalanx of the 4th finger"} {"id":"HP:0009287","name":"Curved middle phalanx of the 4th finger"} {"id":"HP:0009288","name":"Curved proximal phalanx of the 4th finger"} {"id":"HP:0009289","name":"Aplasia/Hypoplasia of the distal phalanx of the 4th finger"} {"id":"HP:0009290","name":"Short distal phalanx of the 4th finger"} {"id":"HP:0009291","name":"Aplasia of the distal phalanx of the 4th finger"} {"id":"HP:0009292","name":"Broad distal phalanx of the 4th finger"} {"id":"HP:0009293","name":"Broad middle phalanx of the 4th finger"} {"id":"HP:0009294","name":"Absent middle phalanx of 4th finger"} {"id":"HP:0009295","name":"Short middle phalanx of the 4th finger"} {"id":"HP:0009296","name":"Bullet-shaped middle phalanx of the 4th finger"} {"id":"HP:0009297","name":"Osteolytic defects of the middle phalanx of the 4th finger"} {"id":"HP:0009298","name":"Aplasia of the proximal phalanx of the 4th finger"} {"id":"HP:0009299","name":"Aplasia/Hypoplasia of the middle phalanx of the 4th finger"} {"id":"HP:0009300","name":"Aplasia/Hypoplasia of the proximal phalanx of the 4th finger"} {"id":"HP:0009301","name":"Short proximal phalanx of the 4th finger"} {"id":"HP:0009302","name":"Bullet-shaped distal phalanx of the 4th finger"} {"id":"HP:0009303","name":"Osteolytic defects of the distal phalanx of the 4th finger"} {"id":"HP:0009304","name":"Patchy sclerosis of the distal phalanx of the 4th finger"} {"id":"HP:0009305","name":"Distal/middle symphalangism of 4th finger"} {"id":"HP:0009306","name":"Triangular shaped distal phalanx of the 4th finger"} {"id":"HP:0009307","name":"Patchy sclerosis of the middle phalanx of the 4th finger"} {"id":"HP:0009308","name":"Symphalangism of middle phalanx of 4th finger"} {"id":"HP:0009309","name":"Triangular shaped middle phalanx of the 4th finger"} {"id":"HP:0009310","name":"Broad proximal phalanx of the 4th finger"} {"id":"HP:0009311","name":"Bullet-shaped proximal phalanx of the 4th finger"} {"id":"HP:0009312","name":"Osteolytic defects of the proximal phalanx of the 4th finger"} {"id":"HP:0009313","name":"Patchy sclerosis of the proximal phalanx of the 4th finger"} {"id":"HP:0009314","name":"Symphalangism affecting the proximal phalanx of the 4th finger"} {"id":"HP:0009315","name":"Triangular shaped proximal phalanx of the 4th finger"} {"id":"HP:0009316","name":"Abnormality of the phalanges of the 3rd finger"} {"id":"HP:0009317","name":"Deviation of the 3rd finger"} {"id":"HP:0009318","name":"Aplasia/Hypoplasia of the 3rd finger"} {"id":"HP:0009319","name":"Joint contracture of the 3rd finger"} {"id":"HP:0009320","name":"Abnormality of the epiphyses of the 3rd finger"} {"id":"HP:0009321","name":"Absent epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009322","name":"Bracket epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009323","name":"Cone-shaped epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009324","name":"Enlarged epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009325","name":"Fragmentation of the epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009326","name":"Irregular epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009327","name":"Ivory epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009328","name":"Pseudoepiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009329","name":"Small epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009330","name":"Stippling of the epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009331","name":"Triangular epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009332","name":"Abnormality of the epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009333","name":"Abnormality of the epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009334","name":"Abnormality of the epiphysis of the middle phalanx of the 3rd finger"} {"id":"HP:0009335","name":"Absent epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009336","name":"Bracket epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009337","name":"Cone-shaped epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009338","name":"Enlarged epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009339","name":"Fragmentation of the epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009340","name":"Irregular epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009341","name":"Ivory epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009342","name":"Pseudoepiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009343","name":"Small epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009344","name":"Stippling of the epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009345","name":"Triangular epiphysis of the distal phalanx of the 3rd finger"} {"id":"HP:0009346","name":"Absent epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009347","name":"Bracket epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009348","name":"Cone-shaped epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009349","name":"Enlarged epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009350","name":"Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009351","name":"Irregular epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009352","name":"Ivory epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009353","name":"Pseudoepiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009354","name":"Small epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009355","name":"Stippling of the epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009356","name":"Triangular epiphysis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009357","name":"Abnormality of the distal phalanx of the 3rd finger"} {"id":"HP:0009358","name":"Abnormality of the proximal phalanx of the 3rd finger"} {"id":"HP:0009370","name":"Type A brachydactyly"} {"id":"HP:0009371","name":"Type A1 brachydactyly"} {"id":"HP:0009372","name":"Type A2 brachydactyly"} {"id":"HP:0009373","name":"Type C brachydactyly"} {"id":"HP:0009374","name":"Broad phalanges of the 5th finger"} {"id":"HP:0009375","name":"Bullet-shaped phalanges of the 5th finger"} {"id":"HP:0009376","name":"Aplasia/Hypoplasia of the phalanges of the 5th finger"} {"id":"HP:0009377","name":"Patchy sclerosis of 5th finger phalanx"} {"id":"HP:0009378","name":"Triangular shaped phalanges of the 5th finger"} {"id":"HP:0009379","name":"Rhomboid or triangular shaped 5th finger distal phalanx"} {"id":"HP:0009380","name":"Aplasia of the fingers"} {"id":"HP:0009381","name":"Short finger"} {"id":"HP:0009382","name":"Absent epiphyses of the 5th finger"} {"id":"HP:0009383","name":"Bracket epiphyses of the 5th finger"} {"id":"HP:0009384","name":"Cone-shaped epiphyses of the 5th finger"} {"id":"HP:0009385","name":"Enlarged epiphyses of the 5th finger"} {"id":"HP:0009386","name":"Fragmentation of the epiphyses of the 5th finger"} {"id":"HP:0009387","name":"Irregular epiphyses of the 5th finger"} {"id":"HP:0009388","name":"Ivory epiphyses of the 5th finger"} {"id":"HP:0009389","name":"Pseudoepiphyses of the 5th finger"} {"id":"HP:0009390","name":"Small epiphyses of the 5th finger"} {"id":"HP:0009391","name":"Stippling of the epiphyses of the 5th finger"} {"id":"HP:0009392","name":"Triangular epiphyses of the 5th finger"} {"id":"HP:0009393","name":"Absent epiphyses of the 4th finger"} {"id":"HP:0009394","name":"Bracket epiphyses of the 4th finger"} {"id":"HP:0009395","name":"Cone-shaped epiphyses of the 4th finger"} {"id":"HP:0009396","name":"Enlarged epiphyses of the 4th finger"} {"id":"HP:0009397","name":"Fragmentation of the epiphyses of the 4th finger"} {"id":"HP:0009398","name":"Irregular epiphyses of the 4th finger"} {"id":"HP:0009399","name":"Ivory epiphyses of the 4th finger"} {"id":"HP:0009400","name":"Pseudoepiphyses of the 4th finger"} {"id":"HP:0009401","name":"Small epiphyses of the 4th finger"} {"id":"HP:0009402","name":"Stippling of the epiphyses of the 4th finger"} {"id":"HP:0009403","name":"Triangular epiphyses of the 4th finger"} {"id":"HP:0009404","name":"Broad phalanges of the 4th finger"} {"id":"HP:0009405","name":"Bullet-shaped phalanges of the 4th finger"} {"id":"HP:0009406","name":"Patchy sclerosis of 4th finger phalanx"} {"id":"HP:0009407","name":"Triangular shaped phalanges of the 4th finger"} {"id":"HP:0009408","name":"Aplasia/Hypoplasia of the phalanges of the 4th finger"} {"id":"HP:0009410","name":"Absent epiphyses of the 3rd finger"} {"id":"HP:0009411","name":"Bracket epiphyses of the 3rd finger"} {"id":"HP:0009412","name":"Cone-shaped epiphyses of the 3rd finger"} {"id":"HP:0009413","name":"Enlarged epiphyses of the 3rd finger"} {"id":"HP:0009414","name":"Fragmentation of the epiphyses of the 3rd finger"} {"id":"HP:0009415","name":"Irregular epiphyses of the 3rd finger"} {"id":"HP:0009416","name":"Ivory epiphyses of the 3rd finger"} {"id":"HP:0009417","name":"Pseudoepiphyses of the 3rd finger"} {"id":"HP:0009418","name":"Small epiphyses of the 3rd finger"} {"id":"HP:0009419","name":"Stippling of the epiphyses of the 3rd finger"} {"id":"HP:0009420","name":"Triangular epiphyses of the 3rd finger"} {"id":"HP:0009421","name":"Aplasia/Hypoplasia of the distal phalanx of the 3rd finger"} {"id":"HP:0009422","name":"Broad distal phalanx of the 3rd finger"} {"id":"HP:0009423","name":"Bullet-shaped distal phalanx of the 3rd finger"} {"id":"HP:0009424","name":"Osteolytic defects of the distal phalanx of the 3rd finger"} {"id":"HP:0009425","name":"Patchy sclerosis of the distal phalanx of the 3rd finger"} {"id":"HP:0009426","name":"Distal/middle symphalangism of 3rd finger"} {"id":"HP:0009427","name":"Triangular shaped distal phalanx of the 3rd finger"} {"id":"HP:0009428","name":"Curved distal phalanx of the 3rd finger"} {"id":"HP:0009429","name":"Aplasia of the distal phalanx of the 3rd finger"} {"id":"HP:0009430","name":"Broad middle phalanx of the 3rd finger"} {"id":"HP:0009431","name":"Bullet-shaped middle phalanx of the 3rd finger"} {"id":"HP:0009432","name":"Curved middle phalanx of the 3rd finger"} {"id":"HP:0009433","name":"Osteolytic defects of the middle phalanx of the 3rd finger"} {"id":"HP:0009434","name":"Patchy sclerosis of the middle phalanx of the 3rd finger"} {"id":"HP:0009435","name":"Symphalangism of middle phalanx of 3rd finger"} {"id":"HP:0009436","name":"Triangular shaped middle phalanx of the 3rd finger"} {"id":"HP:0009437","name":"Aplasia/Hypoplasia of the middle phalanx of the 3rd finger"} {"id":"HP:0009438","name":"Absent middle phalanx of 3rd finger"} {"id":"HP:0009439","name":"Short middle phalanx of the 3rd finger"} {"id":"HP:0009440","name":"Broad phalanges of the 3rd finger"} {"id":"HP:0009441","name":"Bullet-shaped phalanges of the 3rd finger"} {"id":"HP:0009442","name":"Curved phalanges of the 3rd finger"} {"id":"HP:0009443","name":"Osteolytic defects of the phalanges of the 3rd finger"} {"id":"HP:0009444","name":"Patchy sclerosis of 3rd finger phalanx"} {"id":"HP:0009445","name":"Symphalangism of the 3rd finger"} {"id":"HP:0009446","name":"Triangular shaped phalanges of the 3rd finger"} {"id":"HP:0009447","name":"Aplasia/Hypoplasia of the phalanges of the 3rd finger"} {"id":"HP:0009450","name":"Broad proximal phalanx of the 3rd finger"} {"id":"HP:0009451","name":"Bullet-shaped proximal phalanx of the 3rd finger"} {"id":"HP:0009452","name":"Curved proximal phalanx of the 3rd finger"} {"id":"HP:0009453","name":"Osteolytic defects of the proximal phalanx of the 3rd finger"} {"id":"HP:0009454","name":"Patchy sclerosis of the proximal phalanx of the 3rd finger"} {"id":"HP:0009455","name":"Symphalangism affecting the proximal phalanx of the 3rd finger"} {"id":"HP:0009456","name":"Triangular shaped proximal phalanx of the 3rd finger"} {"id":"HP:0009457","name":"Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger"} {"id":"HP:0009458","name":"Aplasia of the proximal phalanx of the 3rd finger"} {"id":"HP:0009459","name":"Short proximal phalanx of the 3rd finger"} {"id":"HP:0009460","name":"Aplasia of the 3rd finger"} {"id":"HP:0009461","name":"Short 3rd finger"} {"id":"HP:0009462","name":"Radial deviation of the 3rd finger"} {"id":"HP:0009463","name":"Ulnar deviation of the 3rd finger"} {"id":"HP:0009464","name":"Ulnar deviation of the 2nd finger"} {"id":"HP:0009465","name":"Ulnar deviation of finger"} {"id":"HP:0009466","name":"Radial deviation of finger"} {"id":"HP:0009467","name":"Radial deviation of the 2nd finger"} {"id":"HP:0009468","name":"Deviation of the 2nd finger"} {"id":"HP:0009469","name":"Contracture of the distal interphalangeal joint of the 3rd finger"} {"id":"HP:0009470","name":"Contracture of the metacarpophalangeal joint of the 3rd finger"} {"id":"HP:0009471","name":"Contracture of the proximal interphalangeal joint of the 3rd finger"} {"id":"HP:0009473","name":"Joint contracture of the hand"} {"id":"HP:0009477","name":"Proximal/middle symphalangism of 4th finger"} {"id":"HP:0009478","name":"Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal"} {"id":"HP:0009482","name":"Proximal/middle symphalangism of 3rd finger"} {"id":"HP:0009483","name":"Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal"} {"id":"HP:0009484","name":"Deviation of the hand or of fingers of the hand"} {"id":"HP:0009485","name":"Radial deviation of the hand or of fingers of the hand"} {"id":"HP:0009486","name":"Radial deviation of the hand"} {"id":"HP:0009487","name":"Ulnar deviation of the hand"} {"id":"HP:0009488","name":"Absent epiphyses of the 2nd finger"} {"id":"HP:0009489","name":"Bracket epiphyses of the 2nd finger"} {"id":"HP:0009490","name":"Cone-shaped epiphyses of the 2nd finger"} {"id":"HP:0009491","name":"Enlarged epiphyses of the 2nd finger"} {"id":"HP:0009492","name":"Fragmentation of the epiphyses of the 2nd finger"} {"id":"HP:0009493","name":"Irregular epiphyses of the 2nd finger"} {"id":"HP:0009494","name":"Ivory epiphyses of the 2nd finger"} {"id":"HP:0009495","name":"Pseudoepiphyses of the 2nd finger"} {"id":"HP:0009496","name":"Small epiphyses of the 2nd finger"} {"id":"HP:0009497","name":"Stippling of the epiphyses of the 2nd finger"} {"id":"HP:0009498","name":"Triangular epiphyses of the 2nd finger"} {"id":"HP:0009499","name":"Abnormality of the epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009500","name":"Abnormality of the epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009501","name":"Abnormality of the epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009502","name":"Absent epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009503","name":"Bracket epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009504","name":"Cone-shaped epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009505","name":"Enlarged epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009506","name":"Fragmentation of the epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009507","name":"Irregular epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009508","name":"Ivory epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009509","name":"Pseudoepiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009510","name":"Small epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009511","name":"Stippling of the epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009512","name":"Triangular epiphysis of the distal phalanx of the 2nd finger"} {"id":"HP:0009513","name":"Absent epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009514","name":"Bracket epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009515","name":"Cone-shaped epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009516","name":"Enlarged epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009517","name":"Fragmentation of the epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009518","name":"Irregular epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009519","name":"Ivory epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009520","name":"Pseudoepiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009521","name":"Small epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009522","name":"Stippling of the epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009523","name":"Triangular epiphysis of the middle phalanx of the 2nd finger"} {"id":"HP:0009524","name":"Absent epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009525","name":"Bracket epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009526","name":"Cone-shaped epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009527","name":"Enlarged epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009528","name":"Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009529","name":"Irregular epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009530","name":"Ivory epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009531","name":"Pseudoepiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009532","name":"Small epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009533","name":"Stippling of the epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009534","name":"Triangular epiphysis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009535","name":"Aplasia of the 2nd finger"} {"id":"HP:0009536","name":"Short 2nd finger"} {"id":"HP:0009537","name":"Flexion contracture of the 2nd finger"} {"id":"HP:0009538","name":"Contracture of the distal interphalangeal joint of the 2nd finger"} {"id":"HP:0009539","name":"Contracture of the metacarpophalangeal joint of the 2nd finger"} {"id":"HP:0009540","name":"Contracture of the proximal interphalangeal joint of the 2nd finger"} {"id":"HP:0009541","name":"Abnormality of the phalanges of the 2nd finger"} {"id":"HP:0009542","name":"Abnormality of the distal phalanx of the 2nd finger"} {"id":"HP:0009543","name":"Abnormality of the middle phalanx of the 2nd finger"} {"id":"HP:0009544","name":"Abnormality of the proximal phalanx of the 2nd finger"} {"id":"HP:0009545","name":"Symphalangism of the 2nd finger"} {"id":"HP:0009546","name":"Triangular shaped phalanges of the 2nd finger"} {"id":"HP:0009547","name":"Broad phalanges of the 2nd finger"} {"id":"HP:0009548","name":"Bullet-shaped phalanges of the 2nd finger"} {"id":"HP:0009549","name":"Curved phalanges of the 2nd finger"} {"id":"HP:0009550","name":"Osteolytic defects of the phalanges of the 2nd finger"} {"id":"HP:0009551","name":"Patchy sclerosis of 2nd finger phalanx"} {"id":"HP:0009552","name":"Aplasia/Hypoplasia of the phalanges of the 2nd finger"} {"id":"HP:0009553","name":"Abnormality of the hairline"} {"id":"HP:0009554","name":"Projection of scalp hair onto lateral cheek"} {"id":"HP:0009555","name":"Hypoplasia of the pharynx"} {"id":"HP:0009556","name":"Absent tibia"} {"id":"HP:0009557","name":"Aplasia/Hypoplasia of the distal phalanx of the 2nd finger"} {"id":"HP:0009558","name":"Broad distal phalanx of the 2nd finger"} {"id":"HP:0009559","name":"Bullet-shaped distal phalanx of the 2nd finger"} {"id":"HP:0009560","name":"Curved distal phalanx of the 2nd finger"} {"id":"HP:0009561","name":"Osteolytic defects of the distal phalanx of the 2nd finger"} {"id":"HP:0009562","name":"Patchy sclerosis of the distal phalanx of the 2nd finger"} {"id":"HP:0009563","name":"Distal/middle symphalangism of 2nd finger"} {"id":"HP:0009564","name":"Triangular shaped distal phalanx of the 2nd finger"} {"id":"HP:0009565","name":"Aplasia of the distal phalanx of the 2nd finger"} {"id":"HP:0009566","name":"Short distal phalanx of the 2nd finger"} {"id":"HP:0009568","name":"Aplasia/Hypoplasia of the middle phalanx of the 2nd finger"} {"id":"HP:0009569","name":"Broad middle phalanx of the 2nd finger"} {"id":"HP:0009570","name":"Bullet-shaped middle phalanx of the 2nd finger"} {"id":"HP:0009571","name":"Curved middle phalanx of the 2nd finger"} {"id":"HP:0009572","name":"Osteolytic defects of the middle phalanx of the 2nd finger"} {"id":"HP:0009573","name":"Patchy sclerosis of the middle phalanx of the 2nd finger"} {"id":"HP:0009574","name":"Symphalangism of middle phalanx of 2nd finger"} {"id":"HP:0009575","name":"Triangular shaped middle phalanx of the 2nd finger"} {"id":"HP:0009576","name":"Absent middle phalanx of 2nd finger"} {"id":"HP:0009577","name":"Short middle phalanx of the 2nd finger"} {"id":"HP:0009579","name":"Proximal/middle symphalangism of the 2nd finger"} {"id":"HP:0009580","name":"Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger"} {"id":"HP:0009581","name":"Broad proximal phalanx of the 2nd finger"} {"id":"HP:0009582","name":"Bullet-shaped proximal phalanx of the 2nd finger"} {"id":"HP:0009583","name":"Curved proximal phalanx of the 2nd finger"} {"id":"HP:0009584","name":"Osteolytic defects of the proximal phalanx of the 2nd finger"} {"id":"HP:0009585","name":"Patchy sclerosis of the proximal phalanx of the 2nd finger"} {"id":"HP:0009586","name":"Symphalangism affecting the proximal phalanx of the 2nd finger"} {"id":"HP:0009587","name":"Triangular shaped proximal phalanx of the 2nd finger"} {"id":"HP:0009588","name":"Vestibular Schwannoma"} {"id":"HP:0009589","name":"Bilateral vestibular Schwannoma"} {"id":"HP:0009590","name":"Unilateral vestibular Schwannoma"} {"id":"HP:0009591","name":"Abnormality of the vestibulocochlear nerve"} {"id":"HP:0009592","name":"Astrocytoma"} {"id":"HP:0009593","name":"Peripheral Schwannoma"} {"id":"HP:0009594","name":"Retinal hamartoma"} {"id":"HP:0009595","name":"Occasional neurofibromas"} {"id":"HP:0009596","name":"Aplasia of the proximal phalanx of the 2nd finger"} {"id":"HP:0009597","name":"Short proximal phalanx of the 2nd finger"} {"id":"HP:0009598","name":"Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal"} {"id":"HP:0009599","name":"Abnormality of thumb epiphysis"} {"id":"HP:0009600","name":"Flexion contracture of thumb"} {"id":"HP:0009601","name":"Aplasia/Hypoplasia of the thumb"} {"id":"HP:0009602","name":"Abnormality of thumb phalanx"} {"id":"HP:0009603","name":"Deviation of the thumb"} {"id":"HP:0009606","name":"Complete duplication of distal phalanx of the thumb"} {"id":"HP:0009608","name":"Complete duplication of proximal phalanx of the thumb"} {"id":"HP:0009609","name":"Duplication of the 1st metacarpal"} {"id":"HP:0009611","name":"Bifid distal phalanx of the thumb"} {"id":"HP:0009612","name":"Duplication of the distal phalanx of the thumb"} {"id":"HP:0009613","name":"Duplication of the proximal phalanx of the thumb"} {"id":"HP:0009614","name":"Bifid proximal phalanx of the thumb"} {"id":"HP:0009615","name":"Complete duplication of the first metacarpal"} {"id":"HP:0009616","name":"Bifid first metacarpal"} {"id":"HP:0009617","name":"Abnormality of the distal phalanx of the thumb"} {"id":"HP:0009618","name":"Abnormality of the proximal phalanx of the thumb"} {"id":"HP:0009622","name":"Distally placed thumb"} {"id":"HP:0009623","name":"Proximal placement of thumb"} {"id":"HP:0009624","name":"Contractures of the carpometacarpal joint of the thumb"} {"id":"HP:0009625","name":"Contractures of the metacarpophalangeal joint of the thumb"} {"id":"HP:0009626","name":"Contractures of the interphalangeal joint of the thumb"} {"id":"HP:0009629","name":"Aplasia/Hypoplasia of the proximal phalanx of the thumb"} {"id":"HP:0009630","name":"Broad proximal phalanx of the thumb"} {"id":"HP:0009631","name":"Bullet-shaped proximal phalanx of the thumb"} {"id":"HP:0009632","name":"Curved proximal phalanx of the thumb"} {"id":"HP:0009633","name":"Osteolytic defect of the proximal phalanx of the thumb"} {"id":"HP:0009634","name":"Patchy sclerosis of the proximal phalanx of the thumb"} {"id":"HP:0009635","name":"Synostosis of thumb phalanx"} {"id":"HP:0009636","name":"Triangular shaped proximal phalanx of the thumb"} {"id":"HP:0009637","name":"Absent proximal phalanx of thumb"} {"id":"HP:0009638","name":"Short proximal phalanx of thumb"} {"id":"HP:0009640","name":"Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal"} {"id":"HP:0009641","name":"Aplasia/Hypoplasia of the distal phalanx of the thumb"} {"id":"HP:0009642","name":"Broad distal phalanx of the thumb"} {"id":"HP:0009643","name":"Bullet-shaped distal phalanx of the thumb"} {"id":"HP:0009644","name":"Curved distal phalanx of the thumb"} {"id":"HP:0009645","name":"Osteolytic defect of the distal phalanx of the thumb"} {"id":"HP:0009646","name":"Patchy sclerosis of the distal phalanx of the thumb"} {"id":"HP:0009648","name":"Triangular shaped distal phalanx of the thumb"} {"id":"HP:0009649","name":"Aplasia of the distal phalanx of the thumb"} {"id":"HP:0009650","name":"Short distal phalanx of the thumb"} {"id":"HP:0009652","name":"Bullet-shaped thumb phalanx"} {"id":"HP:0009653","name":"Curved thumb phalanx"} {"id":"HP:0009654","name":"Osteolytic defect of thumb phalanx"} {"id":"HP:0009655","name":"Patchy sclerosis of thumb phalanx"} {"id":"HP:0009656","name":"Symphalangism of the thumb"} {"id":"HP:0009657","name":"Triangular shaped thumb phalanx"} {"id":"HP:0009658","name":"Aplasia/Hypoplasia of the phalanges of the thumb"} {"id":"HP:0009659","name":"Partial absence of thumb"} {"id":"HP:0009660","name":"Short phalanx of the thumb"} {"id":"HP:0009662","name":"Abnormality of the epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009663","name":"Abnormality of the epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009664","name":"Absent epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009665","name":"Bracket epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009666","name":"Cone-shaped epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009667","name":"Enlarged epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009668","name":"Fragmentation of the epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009669","name":"Irregular epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009670","name":"Ivory epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009671","name":"Pseudoepiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009672","name":"Small epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009673","name":"Stippling of the epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009674","name":"Triangular epiphysis of the proximal phalanx of the thumb"} {"id":"HP:0009675","name":"Absent epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009676","name":"Bracket epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009677","name":"Cone-shaped epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009678","name":"Enlarged epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009679","name":"Fragmentation of the epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009680","name":"Irregular epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009681","name":"Ivory epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009682","name":"Pseudoepiphysis of the distal phalanx of the thumb"} {"id":"HP:0009683","name":"Small epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009684","name":"Stippling of the epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009685","name":"Triangular epiphysis of the distal phalanx of the thumb"} {"id":"HP:0009686","name":"Absent epiphyses of the thumb"} {"id":"HP:0009687","name":"Bracket epiphyses of the thumb"} {"id":"HP:0009688","name":"Cone-shaped epiphysis of the thumb"} {"id":"HP:0009689","name":"Enlarged thumb epiphysis"} {"id":"HP:0009690","name":"Fragmentation of thumb epiphysis"} {"id":"HP:0009691","name":"Irregular thumb epiphysis"} {"id":"HP:0009692","name":"Ivory epiphysis of the thumb"} {"id":"HP:0009693","name":"Pseudoepiphysis of the thumb"} {"id":"HP:0009694","name":"Small thumb epiphysis"} {"id":"HP:0009695","name":"Stippling of thumb epiphysis"} {"id":"HP:0009696","name":"Triangular epiphyses of the thumb"} {"id":"HP:0009697","name":"Contracture of the distal interphalangeal joints of the fingers"} {"id":"HP:0009699","name":"Osteolytic defects of the hand bones"} {"id":"HP:0009700","name":"Synostosis involving bones of the fingers"} {"id":"HP:0009701","name":"Metacarpal synostosis"} {"id":"HP:0009702","name":"Carpal synostosis"} {"id":"HP:0009703","name":"Synostosis involving the 1st metacarpal"} {"id":"HP:0009704","name":"Chronic CSF lymphocytosis"} {"id":"HP:0009705","name":"Synostosis involving the 2nd metacarpal"} {"id":"HP:0009706","name":"Synostosis involving the 3rd metacarpal"} {"id":"HP:0009707","name":"Synostosis involving the 4th metacarpal"} {"id":"HP:0009708","name":"Synostosis involving the 5th metacarpal"} {"id":"HP:0009709","name":"Increased CSF interferon alpha"} {"id":"HP:0009710","name":"Chilblain lesions"} {"id":"HP:0009711","name":"Retinal hemangioblastoma"} {"id":"HP:0009713","name":"Spinal hemangioblastoma"} {"id":"HP:0009714","name":"Abnormality of the epididymis"} {"id":"HP:0009715","name":"Papillary cystadenoma of the epididymis"} {"id":"HP:0009716","name":"Subependymal nodules"} {"id":"HP:0009717","name":"Cortical tubers"} {"id":"HP:0009718","name":"Subependymal giant-cell astrocytoma"} {"id":"HP:0009719","name":"Hypomelanotic macules"} {"id":"HP:0009720","name":"Adenoma sebaceum"} {"id":"HP:0009721","name":"Shagreen patch"} {"id":"HP:0009722","name":"Dental enamel pits"} {"id":"HP:0009723","name":"Abnormality of the subungual region"} {"id":"HP:0009724","name":"Subungual fibromas"} {"id":"HP:0009725","name":"Bladder neoplasm"} {"id":"HP:0009726","name":"Renal neoplasm"} {"id":"HP:0009727","name":"Achromatic retinal patches"} {"id":"HP:0009728","name":"Neoplasm of striated muscle"} {"id":"HP:0009729","name":"Cardiac rhabdomyoma"} {"id":"HP:0009730","name":"Rhabdomyoma"} {"id":"HP:0009731","name":"Cerebral hamartomata"} {"id":"HP:0009732","name":"Plexiform neurofibroma"} {"id":"HP:0009733","name":"Glioma"} {"id":"HP:0009734","name":"Optic glioma"} {"id":"HP:0009735","name":"Spinal neurofibromas"} {"id":"HP:0009736","name":"Tibial pseudoarthrosis"} {"id":"HP:0009737","name":"Lisch nodules"} {"id":"HP:0009738","name":"Abnormality of the antihelix"} {"id":"HP:0009739","name":"Hypoplasia of the antihelix"} {"id":"HP:0009740","name":"Aplasia of the parotid gland"} {"id":"HP:0009741","name":"Nephrosclerosis"} {"id":"HP:0009742","name":"Stiff shoulders"} {"id":"HP:0009743","name":"Distichiasis"} {"id":"HP:0009744","name":"Abnormality of the spinal dura mater"} {"id":"HP:0009745","name":"Spinalarachnoid cyst"} {"id":"HP:0009746","name":"Thick nasal septum"} {"id":"HP:0009747","name":"Lumbosacral hirsutism"} {"id":"HP:0009748","name":"Large earlobe"} {"id":"HP:0009751","name":"Aplasia of the pectoralis major muscle"} {"id":"HP:0009752","name":"Cleft in skull base"} {"id":"HP:0009754","name":"Fibrous syngnathia"} {"id":"HP:0009755","name":"Ankyloblepharon"} {"id":"HP:0009756","name":"Popliteal pterygium"} {"id":"HP:0009757","name":"Intercrural pterygium"} {"id":"HP:0009758","name":"Pyramidal skinfold extending from the base to the top of the nails"} {"id":"HP:0009759","name":"Neck pterygia"} {"id":"HP:0009760","name":"Antecubital pterygium"} {"id":"HP:0009761","name":"Anterior clefting of vertebral bodies"} {"id":"HP:0009762","name":"Facial wrinkling"} {"id":"HP:0009763","name":"Limb pain"} {"id":"HP:0009765","name":"Low hanging columella"} {"id":"HP:0009767","name":"Aplasia/Hypoplasia of the phalanges of the hand"} {"id":"HP:0009768","name":"Broad phalanges of the hand"} {"id":"HP:0009769","name":"Bullet-shaped phalanges of the hand"} {"id":"HP:0009770","name":"Curved phalanges of the hand"} {"id":"HP:0009771","name":"Osteolytic defects of the phalanges of the hand"} {"id":"HP:0009772","name":"Patchy sclerosis of finger phalanx"} {"id":"HP:0009773","name":"Symphalangism affecting the phalanges of the hand"} {"id":"HP:0009774","name":"Triangular shaped phalanges of the hand"} {"id":"HP:0009775","name":"Amniotic constriction ring"} {"id":"HP:0009776","name":"Adactyly"} {"id":"HP:0009777","name":"Absent thumb"} {"id":"HP:0009778","name":"Short thumb"} {"id":"HP:0009779","name":"3-4 toe syndactyly"} {"id":"HP:0009780","name":"Iliac horns"} {"id":"HP:0009781","name":"Lester's sign"} {"id":"HP:0009782","name":"Aplasia/Hypoplasia of the biceps"} {"id":"HP:0009783","name":"Biceps aplasia"} {"id":"HP:0009784","name":"Aplasia/Hypoplasia of the triceps"} {"id":"HP:0009785","name":"Triceps aplasia"} {"id":"HP:0009786","name":"Aplasia/Hypoplasia of the musculature of the thigh"} {"id":"HP:0009787","name":"Aplasia/Hypoplasia of the quadriceps"} {"id":"HP:0009788","name":"Quadriceps aplasia"} {"id":"HP:0009789","name":"Perianal abscess"} {"id":"HP:0009790","name":"Hemisacrum (S2-S5)"} {"id":"HP:0009791","name":"Bifid sacrum"} {"id":"HP:0009792","name":"Teratoma"} {"id":"HP:0009793","name":"Presacral teratoma"} {"id":"HP:0009794","name":"Branchial anomaly"} {"id":"HP:0009795","name":"Branchial fistula"} {"id":"HP:0009796","name":"Branchial cyst"} {"id":"HP:0009797","name":"Cholesteatoma"} {"id":"HP:0009798","name":"Euthyroid goiter"} {"id":"HP:0009799","name":"Supernumerary spleens"} {"id":"HP:0009800","name":"Maternal diabetes"} {"id":"HP:0009802","name":"Aplasia of the phalanges of the hand"} {"id":"HP:0009803","name":"Short phalanx of finger"} {"id":"HP:0009804","name":"Reduced number of teeth"} {"id":"HP:0009805","name":"Low-output congestive heart failure"} {"id":"HP:0009806","name":"Nephrogenic diabetes insipidus"} {"id":"HP:0009808","name":"Anomaly of the upper limb diaphyses"} {"id":"HP:0009809","name":"Abnormality of upper limb metaphysis"} {"id":"HP:0009810","name":"Abnormality of upper limb joint"} {"id":"HP:0009811","name":"Abnormality of the elbow"} {"id":"HP:0009812","name":"Amelia involving the upper limbs"} {"id":"HP:0009813","name":"Upper limb phocomelia"} {"id":"HP:0009814","name":"Upper limb peromelia"} {"id":"HP:0009815","name":"Aplasia/hypoplasia of the extremities"} {"id":"HP:0009816","name":"Lower limb undergrowth"} {"id":"HP:0009817","name":"Aplasia involving bones of the lower limbs"} {"id":"HP:0009818","name":"Amelia involving the lower limbs"} {"id":"HP:0009819","name":"Lower limb phocomelia"} {"id":"HP:0009820","name":"Lower limb peromelia"} {"id":"HP:0009821","name":"Forearm undergrowth"} {"id":"HP:0009822","name":"Aplasia involving forearm bones"} {"id":"HP:0009823","name":"Aplasia involving bones of the upper limbs"} {"id":"HP:0009824","name":"Upper limb undergrowth"} {"id":"HP:0009825","name":"Aplasia involving bones of the extremities"} {"id":"HP:0009826","name":"Limb undergrowth"} {"id":"HP:0009827","name":"Amelia"} {"id":"HP:0009828","name":"Peromelia"} {"id":"HP:0009829","name":"Phocomelia"} {"id":"HP:0009830","name":"Peripheral neuropathy"} {"id":"HP:0009831","name":"Mononeuropathy"} {"id":"HP:0009832","name":"Abnormality of the distal phalanx of finger"} {"id":"HP:0009833","name":"Abnormality of the middle phalanges of the hand"} {"id":"HP:0009834","name":"Abnormality of the proximal phalanges of the hand"} {"id":"HP:0009835","name":"Aplasia/Hypoplasia of the distal phalanges of the hand"} {"id":"HP:0009836","name":"Broad distal phalanx of finger"} {"id":"HP:0009837","name":"Bullet-shaped distal phalanges of the hand"} {"id":"HP:0009838","name":"Curved distal phalanges of the hand"} {"id":"HP:0009839","name":"Osteolytic defects of the distal phalanges of the hand"} {"id":"HP:0009840","name":"Patchy sclerosis of distal phalanx of finger"} {"id":"HP:0009843","name":"Aplasia/Hypoplasia of the middle phalanges of the hand"} {"id":"HP:0009844","name":"Broad middle phalanx of finger"} {"id":"HP:0009845","name":"Bullet-shaped middle phalanges of the hand"} {"id":"HP:0009846","name":"Curved middle phalanges of the hand"} {"id":"HP:0009847","name":"Osteolytic defects of the middle phalanges of the hand"} {"id":"HP:0009848","name":"Patchy sclerosis of middle phalanx of finger"} {"id":"HP:0009849","name":"Symphalangism of middle phalanx of finger"} {"id":"HP:0009850","name":"Triangular shaped middle phalanges of the hand"} {"id":"HP:0009851","name":"Aplasia/Hypoplasia of the proximal phalanges of the hand"} {"id":"HP:0009852","name":"Broad proximal phalanges of the hand"} {"id":"HP:0009853","name":"Bullet-shaped proximal phalanges of the hand"} {"id":"HP:0009854","name":"Curved proximal phalanges of the hand"} {"id":"HP:0009855","name":"Osteolytic defects of the proximal phalanges of the hand"} {"id":"HP:0009856","name":"Patchy sclerosis of proximal phalanx of finger"} {"id":"HP:0009857","name":"Symphalangism affecting the proximal phalanges of the hand"} {"id":"HP:0009858","name":"Triangular shaped proximal phalanges of the hand"} {"id":"HP:0009875","name":"Triangular shaped distal phalanges of the hand"} {"id":"HP:0009878","name":"Cerebellar ataxia associated with quadrupedal gait"} {"id":"HP:0009879","name":"Cortical gyral simplification"} {"id":"HP:0009880","name":"Broad distal phalanges of all fingers"} {"id":"HP:0009881","name":"Aplasia of the distal phalanges of the hand"} {"id":"HP:0009882","name":"Short distal phalanx of finger"} {"id":"HP:0009883","name":"Duplication of the distal phalanx of hand"} {"id":"HP:0009884","name":"Tapered distal phalanges of finger"} {"id":"HP:0009886","name":"Trichorrhexis nodosa"} {"id":"HP:0009887","name":"Abnormality of hair pigmentation"} {"id":"HP:0009888","name":"Abnormality of secondary sexual hair"} {"id":"HP:0009889","name":"Localized hirsutism"} {"id":"HP:0009890","name":"High anterior hairline"} {"id":"HP:0009891","name":"Underdeveloped supraorbital ridges"} {"id":"HP:0009892","name":"Anotia"} {"id":"HP:0009893","name":"Telangiectasia of the ear"} {"id":"HP:0009894","name":"Thickened ears"} {"id":"HP:0009895","name":"Abnormality of the crus of the helix"} {"id":"HP:0009896","name":"Abnormality of the antitragus"} {"id":"HP:0009897","name":"Horizontal crus of helix"} {"id":"HP:0009898","name":"Underdeveloped crus of the helix"} {"id":"HP:0009899","name":"Prominent crus of helix"} {"id":"HP:0009900","name":"Unilateral deafness"} {"id":"HP:0009901","name":"Crumpled ear"} {"id":"HP:0009902","name":"Cleft helix"} {"id":"HP:0009903","name":"Conjunctival nodule"} {"id":"HP:0009904","name":"Prominent ear helix"} {"id":"HP:0009905","name":"Thin ear helix"} {"id":"HP:0009906","name":"Aplasia/Hypoplasia of the earlobes"} {"id":"HP:0009907","name":"Attached earlobe"} {"id":"HP:0009908","name":"Anterior creases of earlobe"} {"id":"HP:0009909","name":"Uplifted earlobe"} {"id":"HP:0009910","name":"Aplasia of the middle ear ossicles"} {"id":"HP:0009911","name":"Abnormality of the temporal bone"} {"id":"HP:0009912","name":"Abnormality of the tragus"} {"id":"HP:0009913","name":"Aplasia/Hypoplasia of the tragus"} {"id":"HP:0009914","name":"Cyclopia"} {"id":"HP:0009915","name":"Corneal asymmetry"} {"id":"HP:0009916","name":"Anisocoria"} {"id":"HP:0009917","name":"Persistent pupillary membrane"} {"id":"HP:0009918","name":"Ectopia pupillae"} {"id":"HP:0009919","name":"Retinoblastoma"} {"id":"HP:0009920","name":"Nevus of Ota"} {"id":"HP:0009921","name":"Duane anomaly"} {"id":"HP:0009922","name":"Persistence of the hyaloid artery"} {"id":"HP:0009924","name":"Aplasia/Hypoplasia involving the nose"} {"id":"HP:0009926","name":"Increased lacrimation"} {"id":"HP:0009927","name":"Aplasia of the nose"} {"id":"HP:0009928","name":"Thick nasal alae"} {"id":"HP:0009929","name":"Abnormality of the columella"} {"id":"HP:0009930","name":"Asymmetry of the nares"} {"id":"HP:0009931","name":"Enlarged naris"} {"id":"HP:0009932","name":"Single naris"} {"id":"HP:0009933","name":"Narrow naris"} {"id":"HP:0009934","name":"Supernumerary naris"} {"id":"HP:0009935","name":"Aplasia/Hypoplasia of the nasal septum"} {"id":"HP:0009936","name":"Narrow nasal septum"} {"id":"HP:0009937","name":"Facial hirsutism"} {"id":"HP:0009938","name":"Sunken cheeks"} {"id":"HP:0009939","name":"Mandibular aplasia"} {"id":"HP:0009940","name":"Asymmetry of the mandible"} {"id":"HP:0009941","name":"Asymmetry of the mouth"} {"id":"HP:0009942","name":"Duplication of thumb phalanx"} {"id":"HP:0009943","name":"Complete duplication of thumb phalanx"} {"id":"HP:0009944","name":"Partial duplication of thumb phalanx"} {"id":"HP:0009945","name":"Duplication of phalanx of 2nd finger"} {"id":"HP:0009946","name":"Polydactyly affecting the 2nd finger"} {"id":"HP:0009947","name":"Duplication of the proximal phalanx of the 2nd finger"} {"id":"HP:0009948","name":"Duplication of the distal phalanx of the 2nd finger"} {"id":"HP:0009949","name":"Duplication of the middle phalanx of the 2nd finger"} {"id":"HP:0009950","name":"Complete duplication of the distal phalanx of the 2nd finger"} {"id":"HP:0009951","name":"Partial duplication of the distal phalanx of the 2nd finger"} {"id":"HP:0009952","name":"Complete duplication of the middle phalanx of the 2nd finger"} {"id":"HP:0009953","name":"Partial duplication of the middle phalanx of the 2nd finger"} {"id":"HP:0009954","name":"Complete duplication of the proximal phalanx of the 2nd finger"} {"id":"HP:0009955","name":"Partial duplication of the proximal phalanx of the 2nd finger"} {"id":"HP:0009956","name":"Partial duplication of the phalanges of the 2nd finger"} {"id":"HP:0009957","name":"Complete duplication of the phalanges of the 2nd finger"} {"id":"HP:0009958","name":"Polydactyly affecting the 3rd finger"} {"id":"HP:0009959","name":"Duplication of phalanx of 3rd finger"} {"id":"HP:0009960","name":"Complete duplication of the phalanges of the 3rd finger"} {"id":"HP:0009961","name":"Partial duplication of the phalanges of the 3rd finger"} {"id":"HP:0009962","name":"Duplication of the distal phalanx of the 3rd finger"} {"id":"HP:0009963","name":"Duplication of the middle phalanx of the 3rd finger"} {"id":"HP:0009964","name":"Duplication of the proximal phalanx of the 3rd finger"} {"id":"HP:0009965","name":"Complete duplication of the distal phalanx of the 3rd finger"} {"id":"HP:0009966","name":"Complete duplication of the middle phalanx of the 3rd finger"} {"id":"HP:0009967","name":"Complete duplication of the proximal phalanx of the 3rd finger"} {"id":"HP:0009968","name":"Partial duplication of the distal phalanx of the 3rd finger"} {"id":"HP:0009969","name":"Partial duplication of the middle phalanx of the 3rd finger"} {"id":"HP:0009970","name":"Partial duplication of the proximal phalanx of the 3rd finger"} {"id":"HP:0009971","name":"Polydactyly affecting the 4th finger"} {"id":"HP:0009972","name":"Duplication of phalanx of 4th finger"} {"id":"HP:0009973","name":"Complete duplication of the phalanges of the 4th finger"} {"id":"HP:0009974","name":"Partial duplication of the phalanges of the 4th finger"} {"id":"HP:0009975","name":"Duplication of the distal phalanx of the 4th finger"} {"id":"HP:0009976","name":"Duplication of the middle phalanx of the 4th finger"} {"id":"HP:0009977","name":"Duplication of the proximal phalanx of the 4th finger"} {"id":"HP:0009978","name":"Complete duplication of the distal phalanx of the 4th finger"} {"id":"HP:0009979","name":"Complete duplication of the middle phalanx of the 4th finger"} {"id":"HP:0009980","name":"Complete duplication of the proximal phalanx of the 4th finger"} {"id":"HP:0009981","name":"Partial duplication of the distal phalanx of the 4th finger"} {"id":"HP:0009982","name":"Partial duplication of the middle phalanx of the 4th finger"} {"id":"HP:0009983","name":"Partial duplication of the proximal phalanx of the 4th finger"} {"id":"HP:0009985","name":"Duplication of phalanx of 5th finger"} {"id":"HP:0009986","name":"Complete duplication of the phalanges of the 5th finger"} {"id":"HP:0009987","name":"Partial duplication of the phalanges of the 5th finger"} {"id":"HP:0009988","name":"Duplication of the distal phalanx of the 5th finger"} {"id":"HP:0009989","name":"Duplication of the middle phalanx of the 5th finger"} {"id":"HP:0009990","name":"Duplication of the proximal phalanx of the 5th finger"} {"id":"HP:0009991","name":"Complete duplication of the distal phalanx of the 5th finger"} {"id":"HP:0009992","name":"Complete duplication of the middle phalanx of the 5th finger"} {"id":"HP:0009993","name":"Complete duplication of the proximal phalanx of the 5th finger"} {"id":"HP:0009994","name":"Partial duplication of the distal phalanx of the 5th finger"} {"id":"HP:0009995","name":"Partial duplication of the middle phalanx of the 5th finger"} {"id":"HP:0009996","name":"Partial duplication of the proximal phalanx of the 5th finger"} {"id":"HP:0009997","name":"Duplication of phalanx of hand"} {"id":"HP:0009998","name":"Complete duplication of phalanx of hand"} {"id":"HP:0009999","name":"Partial duplication of the phalanx of hand"} {"id":"HP:0010000","name":"Complete duplication of the proximal phalanges of the hand"} {"id":"HP:0010001","name":"Complete duplication of the distal phalanges of the hand"} {"id":"HP:0010002","name":"Complete duplication of the middle phalanges of the hand"} {"id":"HP:0010003","name":"Partial duplication of the proximal phalanges of the hand"} {"id":"HP:0010004","name":"Partial duplication of the distal phalanges of the hand"} {"id":"HP:0010005","name":"Partial duplication of the middle phalanges of the hand"} {"id":"HP:0010006","name":"Duplication of the proximal phalanx of hand"} {"id":"HP:0010008","name":"Duplication of the middle phalanx of hand"} {"id":"HP:0010009","name":"Abnormality of the 1st metacarpal"} {"id":"HP:0010010","name":"Abnormality of the 2nd metacarpal"} {"id":"HP:0010011","name":"Abnormality of the 3rd metacarpal"} {"id":"HP:0010012","name":"Abnormality of the 4th metacarpal"} {"id":"HP:0010013","name":"Abnormality of the 5th metacarpal"} {"id":"HP:0010014","name":"Abnormality of the epiphysis of the 1st metacarpal"} {"id":"HP:0010015","name":"Absent epiphysis of the 1st metacarpal"} {"id":"HP:0010016","name":"Bracket epiphysis of the 1st metacarpal"} {"id":"HP:0010017","name":"Cone-shaped epiphysis of the 1st metacarpal"} {"id":"HP:0010018","name":"Enlarged epiphysis of the 1st metacarpal"} {"id":"HP:0010019","name":"Fragmentation of the epiphysis of the 1st metacarpal"} {"id":"HP:0010020","name":"Irregular epiphysis of the 1st metacarpal"} {"id":"HP:0010021","name":"Ivory epiphysis of the 1st metacarpal"} {"id":"HP:0010022","name":"Pseudoepiphysis of the 1st metacarpal"} {"id":"HP:0010023","name":"Small epiphysis of the 1st metacarpal"} {"id":"HP:0010024","name":"Epiphyseal stippling of the first metacarpal"} {"id":"HP:0010025","name":"Triangular epiphysis of the 1st metacarpal"} {"id":"HP:0010026","name":"Aplasia/Hypoplasia of the 1st metacarpal"} {"id":"HP:0010027","name":"Broad 1st metacarpal"} {"id":"HP:0010028","name":"Bullet-shaped 1st metacarpal"} {"id":"HP:0010029","name":"Curved 1st metacarpal"} {"id":"HP:0010030","name":"Osteolytic defects of the 1st metacarpal"} {"id":"HP:0010031","name":"Patchy sclerosis of the 1st metacarpal"} {"id":"HP:0010033","name":"Triangular shaped 1st metacarpal"} {"id":"HP:0010034","name":"Short 1st metacarpal"} {"id":"HP:0010035","name":"Aplasia of the 1st metacarpal"} {"id":"HP:0010036","name":"Aplasia/Hypoplasia of the 2nd metacarpal"} {"id":"HP:0010037","name":"Aplasia of the 2nd metacarpal"} {"id":"HP:0010038","name":"Short 2nd metacarpal"} {"id":"HP:0010039","name":"Aplasia/Hypoplasia of the 3rd metacarpal"} {"id":"HP:0010040","name":"Aplasia of the 3rd metacarpal"} {"id":"HP:0010041","name":"Short 3rd metacarpal"} {"id":"HP:0010042","name":"Aplasia/Hypoplasia of the 4th metacarpal"} {"id":"HP:0010043","name":"Aplasia of the 4th metacarpal"} {"id":"HP:0010044","name":"Short 4th metacarpal"} {"id":"HP:0010045","name":"Aplasia/Hypoplasia of the 5th metacarpal"} {"id":"HP:0010046","name":"Aplasia of the 5th metacarpal"} {"id":"HP:0010047","name":"Short 5th metacarpal"} {"id":"HP:0010048","name":"Aplasia of metacarpal bones"} {"id":"HP:0010049","name":"Short metacarpal"} {"id":"HP:0010051","name":"Deviation of the hallux"} {"id":"HP:0010052","name":"Abnormality of the proximal phalanx of the hallux"} {"id":"HP:0010053","name":"Abnormality of the distal phalanx of the hallux"} {"id":"HP:0010054","name":"Abnormality of the first metatarsal bone"} {"id":"HP:0010055","name":"Broad hallux"} {"id":"HP:0010056","name":"Abnormality of the epiphyses of the hallux"} {"id":"HP:0010057","name":"Abnormality of the phalanges of the hallux"} {"id":"HP:0010058","name":"Aplasia/Hypoplasia of the phalanges of the hallux"} {"id":"HP:0010059","name":"Broad hallux phalanx"} {"id":"HP:0010060","name":"Bullet-shaped hallux phalanx"} {"id":"HP:0010061","name":"Curved hallux phalanx"} {"id":"HP:0010062","name":"Osteolytic defects of the phalanges of the hallux"} {"id":"HP:0010063","name":"Patchy sclerosis of hallux phalanx"} {"id":"HP:0010064","name":"Symphalangism affecting the phalanges of the hallux"} {"id":"HP:0010065","name":"Triangular shaped phalanges of the hallux"} {"id":"HP:0010066","name":"Duplication of phalanx of hallux"} {"id":"HP:0010067","name":"Aplasia/hypoplasia of the 1st metatarsal"} {"id":"HP:0010068","name":"Broad first metatarsal"} {"id":"HP:0010069","name":"Bullet-shaped 1st metatarsal"} {"id":"HP:0010070","name":"Curved 1st metatarsal"} {"id":"HP:0010071","name":"Osteolytic defects of the 1st metatarsal"} {"id":"HP:0010072","name":"Patchy sclerosis of the 1st metatarsal"} {"id":"HP:0010073","name":"Synostosis involving the 1st metatarsal"} {"id":"HP:0010074","name":"Triangular shaped 1st metatarsal"} {"id":"HP:0010075","name":"Duplication of the 1st metatarsal"} {"id":"HP:0010076","name":"Aplasia/Hypoplasia of the distal phalanx of the hallux"} {"id":"HP:0010077","name":"Broad distal phalanx of the hallux"} {"id":"HP:0010078","name":"Bullet-shaped distal phalanx of the hallux"} {"id":"HP:0010079","name":"Curved distal phalanx of the hallux"} {"id":"HP:0010080","name":"Osteolytic defects of the distal phalanx of the hallux"} {"id":"HP:0010081","name":"Patchy sclerosis of the distal phalanx of the hallux"} {"id":"HP:0010082","name":"Symphalangism affecting the distal phalanx of the hallux"} {"id":"HP:0010083","name":"Triangular shaped distal phalanx of the hallux"} {"id":"HP:0010084","name":"Duplication of the distal phalanx of the hallux"} {"id":"HP:0010085","name":"Aplasia/Hypoplasia of the proximal phalanx of the hallux"} {"id":"HP:0010086","name":"Broad proximal phalanx of the hallux"} {"id":"HP:0010087","name":"Bullet-shaped proximal phalanx of the hallux"} {"id":"HP:0010088","name":"Curved proximal phalanx of the hallux"} {"id":"HP:0010089","name":"Osteolytic defects of the proximal phalanx of the hallux"} {"id":"HP:0010090","name":"Patchy sclerosis of the proximal phalanx of the hallux"} {"id":"HP:0010091","name":"Symphalangism affecting the proximal phalanx of the hallux"} {"id":"HP:0010092","name":"Triangular shaped proximal phalanx of the hallux"} {"id":"HP:0010093","name":"Duplication of the proximal phalanx of the hallux"} {"id":"HP:0010094","name":"Complete duplication of the proximal phalanx of the hallux"} {"id":"HP:0010095","name":"Partial duplication of the proximal phalanx of the hallux"} {"id":"HP:0010096","name":"Complete duplication of the distal phalanx of the hallux"} {"id":"HP:0010097","name":"Partial duplication of the distal phalanx of the hallux"} {"id":"HP:0010098","name":"Complete duplication of the 1st metatarsal"} {"id":"HP:0010099","name":"Partial duplication of the 1st metatarsal"} {"id":"HP:0010100","name":"Complete duplication of hallux phalanx"} {"id":"HP:0010101","name":"Partial duplication of the phalanges of the hallux"} {"id":"HP:0010102","name":"Aplasia of the distal phalanx of the hallux"} {"id":"HP:0010103","name":"Short distal phalanx of hallux"} {"id":"HP:0010104","name":"Absent first metatarsal"} {"id":"HP:0010105","name":"Short first metatarsal"} {"id":"HP:0010106","name":"Aplasia of the proximal phalanx of the hallux"} {"id":"HP:0010107","name":"Short proximal phalanx of hallux"} {"id":"HP:0010109","name":"Short hallux"} {"id":"HP:0010110","name":"Aplasia of the phalanges of the hallux"} {"id":"HP:0010111","name":"Short phalanx of hallux"} {"id":"HP:0010112","name":"Mesoaxial foot polydactyly"} {"id":"HP:0010113","name":"Absent hallux epiphysis"} {"id":"HP:0010114","name":"Bracket epiphyses of the hallux"} {"id":"HP:0010115","name":"Cone-shaped epiphyses of the hallux"} {"id":"HP:0010116","name":"Enlarged epiphyses of the hallux"} {"id":"HP:0010117","name":"Fragmentation of the epiphyses of the hallux"} {"id":"HP:0010118","name":"Irregular epiphyses of the hallux"} {"id":"HP:0010119","name":"Ivory epiphyses of the hallux"} {"id":"HP:0010120","name":"Pseudoepiphyses of the hallux"} {"id":"HP:0010121","name":"Small epiphyses of the hallux"} {"id":"HP:0010122","name":"Stippling of the epiphyses of the hallux"} {"id":"HP:0010123","name":"Triangular epiphyses of the hallux"} {"id":"HP:0010124","name":"Abnormality of the epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010125","name":"Abnormality of the epiphysis of the 1st metatarsal"} {"id":"HP:0010126","name":"Abnormality of the epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010127","name":"Absent epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010128","name":"Bracket epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010129","name":"Cone-shaped epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010130","name":"Enlarged epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010131","name":"Fragmentation of the epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010132","name":"Irregular epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010133","name":"Ivory epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010134","name":"Pseudoepiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010135","name":"Small epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010136","name":"Stippling of the epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010137","name":"Triangular epiphysis of the proximal phalanx of the hallux"} {"id":"HP:0010138","name":"Absent epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010139","name":"Bracket epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010140","name":"Cone-shaped epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010141","name":"Enlarged epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010142","name":"Fragmentation of the epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010143","name":"Irregular epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010144","name":"Ivory epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010145","name":"Pseudoepiphysis of the distal phalanx of the hallux"} {"id":"HP:0010146","name":"Small epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010147","name":"Stippling of the epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010148","name":"Triangular epiphysis of the distal phalanx of the hallux"} {"id":"HP:0010149","name":"Absent epiphysis of the 1st metatarsal"} {"id":"HP:0010150","name":"Bracket epiphysis of the 1st metatarsal"} {"id":"HP:0010151","name":"Cone-shaped epiphysis of the 1st metatarsal"} {"id":"HP:0010152","name":"Enlarged epiphysis of the 1st metatarsal"} {"id":"HP:0010153","name":"Fragmentation of the epiphysis of the 1st metatarsal"} {"id":"HP:0010154","name":"Irregular epiphysis of the 1st metatarsal"} {"id":"HP:0010155","name":"Ivory epiphysis of the 1st metatarsal"} {"id":"HP:0010156","name":"Pseudoepiphysis of the 1st metatarsal"} {"id":"HP:0010157","name":"Small epiphysis of the 1st metatarsal"} {"id":"HP:0010158","name":"Stippling of the epiphysis of the 1st metatarsal"} {"id":"HP:0010159","name":"Triangular epiphysis of the 1st metatarsal"} {"id":"HP:0010160","name":"Abnormality of the epiphyses of the toes"} {"id":"HP:0010161","name":"Abnormality of the phalanges of the toes"} {"id":"HP:0010162","name":"Absent epiphyses of the toes"} {"id":"HP:0010163","name":"Bracket epiphyses of the toes"} {"id":"HP:0010164","name":"Cone-shaped epiphyses of the toes"} {"id":"HP:0010165","name":"Enlarged epiphyses of the toes"} {"id":"HP:0010166","name":"Fragmentation of the epiphyses of the toes"} {"id":"HP:0010167","name":"Irregular epiphyses of the toes"} {"id":"HP:0010168","name":"Ivory epiphyses of the toes"} {"id":"HP:0010169","name":"Pseudoepiphyses of the toes"} {"id":"HP:0010170","name":"Small epiphyses of the toes"} {"id":"HP:0010171","name":"Epiphyseal stippling of toe phalanges"} {"id":"HP:0010172","name":"Triangular epiphyses of the toes"} {"id":"HP:0010173","name":"Aplasia/Hypoplasia of the phalanges of the toes"} {"id":"HP:0010174","name":"Broad phalanx of the toes"} {"id":"HP:0010175","name":"Bullet-shaped toe phalanx"} {"id":"HP:0010176","name":"Curved toe phalanx"} {"id":"HP:0010177","name":"Osteolytic defects of the phalanges of the toes"} {"id":"HP:0010178","name":"Patchy sclerosis of toe phalanx"} {"id":"HP:0010179","name":"Symphalangism affecting the phalanges of the toes"} {"id":"HP:0010180","name":"Triangular shaped phalanges of the toes"} {"id":"HP:0010181","name":"Duplication of phalanx of toe"} {"id":"HP:0010182","name":"Abnormality of the distal phalanges of the toes"} {"id":"HP:0010183","name":"Abnormality of the middle phalanges of the toes"} {"id":"HP:0010184","name":"Abnormality of toe proximal phalanx"} {"id":"HP:0010185","name":"Aplasia/Hypoplasia of the distal phalanges of the toes"} {"id":"HP:0010186","name":"Broad distal phalanx of the toes"} {"id":"HP:0010187","name":"Bullet-shaped distal toe phalanx"} {"id":"HP:0010188","name":"Curved distal toe phalanx"} {"id":"HP:0010189","name":"Osteolytic defects of the distal phalanges of the toes"} {"id":"HP:0010190","name":"Patchy sclerosis of distal toe phalanx"} {"id":"HP:0010191","name":"Symphalangism affecting the distal phalanges of the toes"} {"id":"HP:0010192","name":"Triangular shaped distal phalanges of the toes"} {"id":"HP:0010193","name":"Duplication of distal phalanx of toe"} {"id":"HP:0010194","name":"Aplasia/Hypoplasia of the middle phalanges of the toes"} {"id":"HP:0010195","name":"Broad middle phalanges of the toes"} {"id":"HP:0010196","name":"Bullet-shaped middle toe phalanx"} {"id":"HP:0010197","name":"Curved middle toe phalanx"} {"id":"HP:0010198","name":"Osteolytic defects of the middle phalanges of the toes"} {"id":"HP:0010199","name":"Patchy sclerosis of middle toe phalanx"} {"id":"HP:0010200","name":"Symphalangism affecting the middle phalanges of the toes"} {"id":"HP:0010201","name":"Triangular shaped middle phalanges of the toes"} {"id":"HP:0010202","name":"Duplication of middle phalanx of toe"} {"id":"HP:0010203","name":"Aplasia/hypoplasia of proximal toe phalanx"} {"id":"HP:0010204","name":"Broad proximal phalanx of toe"} {"id":"HP:0010205","name":"Bullet-shaped proximal toe phalanx"} {"id":"HP:0010206","name":"Curved proximal toe phalanx"} {"id":"HP:0010207","name":"Osteolytic defect of the proximal toe phalanx"} {"id":"HP:0010208","name":"Patchy sclerosis of proximal toe phalanx"} {"id":"HP:0010209","name":"Symphalangism affecting the proximal phalanges of the toes"} {"id":"HP:0010210","name":"Triangular shaped proximal phalanges of the toes"} {"id":"HP:0010211","name":"Duplication of proximal phalanx of toe"} {"id":"HP:0010212","name":"Flexion contracture of the hallux"} {"id":"HP:0010213","name":"Contracture of the tarsometatarsal joint of the hallux"} {"id":"HP:0010214","name":"Contracture of the interphalangeal joint of the hallux"} {"id":"HP:0010215","name":"Contractures of the metatarsophalangeal joint of the hallux"} {"id":"HP:0010219","name":"Structural foot deformity"} {"id":"HP:0010220","name":"Abnormality of the epiphysis of the 2nd metacarpal"} {"id":"HP:0010221","name":"Pseudoepiphysis of the 2nd metacarpal"} {"id":"HP:0010222","name":"Abnormality of the epiphysis of the 3rd metacarpal"} {"id":"HP:0010223","name":"Pseudoepiphysis of the 3rd metacarpal"} {"id":"HP:0010224","name":"Abnormality of the epiphysis of the 4th metacarpal"} {"id":"HP:0010225","name":"Pseudoepiphysis of the 4th metacarpal"} {"id":"HP:0010226","name":"Abnormality of the epiphysis of the 5th metacarpal"} {"id":"HP:0010227","name":"Pseudoepiphysis of the 5th metacarpal"} {"id":"HP:0010228","name":"Absent epiphyses of the phalanges of the hand"} {"id":"HP:0010229","name":"Bracket epiphyses of the phalanges of the hand"} {"id":"HP:0010230","name":"Cone-shaped epiphyses of the phalanges of the hand"} {"id":"HP:0010231","name":"Enlarged epiphyses of the phalanges of the hand"} {"id":"HP:0010232","name":"Fragmentation of the epiphyses of the phalanges of the hand"} {"id":"HP:0010233","name":"Irregular epiphyses of the phalanges of the hand"} {"id":"HP:0010234","name":"Ivory epiphyses of the phalanges of the hand"} {"id":"HP:0010235","name":"Pseudoepiphyses of the phalanges of the hand"} {"id":"HP:0010236","name":"Small epiphyses of the phalanges of the hand"} {"id":"HP:0010237","name":"Epiphyseal stippling of finger phalanges"} {"id":"HP:0010238","name":"Triangular epiphyses of the phalanges of the hand"} {"id":"HP:0010239","name":"Aplasia of the middle phalanx of the hand"} {"id":"HP:0010241","name":"Short proximal phalanx of finger"} {"id":"HP:0010242","name":"Aplasia of the proximal phalanges of the hand"} {"id":"HP:0010243","name":"Abnormality of the epiphyses of the distal phalanx of finger"} {"id":"HP:0010244","name":"Abnormality of the epiphyses of the middle phalanges of the hand"} {"id":"HP:0010245","name":"Abnormality of the epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010246","name":"Absent epiphyses of the distal phalanges of the hand"} {"id":"HP:0010247","name":"Bracket epiphyses of the distal phalanges of the hand"} {"id":"HP:0010248","name":"Cone-shaped epiphyses of the distal phalanges of the hand"} {"id":"HP:0010249","name":"Enlarged epiphyses of the distal phalanges of the hand"} {"id":"HP:0010250","name":"Fragmentation of the epiphyses of the distal phalanges of the hand"} {"id":"HP:0010251","name":"Irregular epiphyses of the distal phalanges of the hand"} {"id":"HP:0010252","name":"Ivory epiphyses of the distal phalanges of the hand"} {"id":"HP:0010253","name":"Pseudoepiphyses of the distal phalanges of the hand"} {"id":"HP:0010254","name":"Small epiphyses of the distal phalanges of the hand"} {"id":"HP:0010255","name":"Stippling of the epiphyses of the distal phalanges of the hand"} {"id":"HP:0010256","name":"Triangular epiphyses of the distal phalanges of the hand"} {"id":"HP:0010257","name":"Absent epiphyses of the middle phalanges of the hand"} {"id":"HP:0010258","name":"Bracket epiphyses of the middle phalanges of the hand"} {"id":"HP:0010259","name":"Cone-shaped epiphyses of the middle phalanges of the hand"} {"id":"HP:0010260","name":"Enlarged epiphyses of the middle phalanges of the hand"} {"id":"HP:0010261","name":"Fragmentation of the epiphyses of the middle phalanges of the hand"} {"id":"HP:0010262","name":"Irregular epiphyses of the middle phalanges of the hand"} {"id":"HP:0010263","name":"Ivory epiphyses of the middle phalanges of the hand"} {"id":"HP:0010264","name":"Pseudoepiphyses of the middle phalanges of the hand"} {"id":"HP:0010265","name":"Small epiphyses of the middle phalanges of the hand"} {"id":"HP:0010266","name":"Stippling of the epiphyses of the middle phalanges of the hand"} {"id":"HP:0010267","name":"Triangular epiphyses of the middle phalanges of the hand"} {"id":"HP:0010268","name":"Absent epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010269","name":"Bracket epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010270","name":"Cone-shaped epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010271","name":"Enlarged epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010272","name":"Fragmentation of the epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010273","name":"Irregular epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010274","name":"Ivory epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010275","name":"Pseudoepiphyses of the proximal phalanges of the hand"} {"id":"HP:0010276","name":"Small epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010277","name":"Stippling of the epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010278","name":"Triangular epiphyses of the proximal phalanges of the hand"} {"id":"HP:0010280","name":"Stomatitis"} {"id":"HP:0010281","name":"Cleft lower lip"} {"id":"HP:0010282","name":"Thin lower lip vermilion"} {"id":"HP:0010284","name":"Intra-oral hyperpigmentation"} {"id":"HP:0010285","name":"Oral synechia"} {"id":"HP:0010286","name":"Abnormality of the salivary glands"} {"id":"HP:0010287","name":"Abnormality of the submandibular glands"} {"id":"HP:0010288","name":"Abnormality of the sublingual glands"} {"id":"HP:0010289","name":"Alveolar ridge cleft"} {"id":"HP:0010290","name":"Short hard palate"} {"id":"HP:0010291","name":"Prominent palatine ridges"} {"id":"HP:0010292","name":"Absent uvula"} {"id":"HP:0010293","name":"Aplasia/Hypoplasia of the uvula"} {"id":"HP:0010294","name":"Palate fistula"} {"id":"HP:0010295","name":"Aplasia/Hypoplasia of the tongue"} {"id":"HP:0010296","name":"Ankyloglossia"} {"id":"HP:0010297","name":"Bifid tongue"} {"id":"HP:0010298","name":"Smooth tongue"} {"id":"HP:0010299","name":"Abnormality of dentin"} {"id":"HP:0010300","name":"Abnormally low-pitched voice"} {"id":"HP:0010301","name":"Spinal dysraphism"} {"id":"HP:0010302","name":"Spinal cord tumor"} {"id":"HP:0010303","name":"Abnormality of the spinal meninges"} {"id":"HP:0010304","name":"Spinal meningeal diverticulum"} {"id":"HP:0010305","name":"Absence of the sacrum"} {"id":"HP:0010306","name":"Short thorax"} {"id":"HP:0010307","name":"Stridor"} {"id":"HP:0010308","name":"Asternia"} {"id":"HP:0010309","name":"Bifid sternum"} {"id":"HP:0010310","name":"Chylothorax"} {"id":"HP:0010311","name":"Aplasia/Hypoplasia of the breasts"} {"id":"HP:0010312","name":"Asymmetry of the breasts"} {"id":"HP:0010313","name":"Breast hypertrophy"} {"id":"HP:0010314","name":"Premature thelarche"} {"id":"HP:0010315","name":"Aplasia/Hypoplasia of the diaphragm"} {"id":"HP:0010316","name":"Ebstein's anomaly of the tricuspid valve"} {"id":"HP:0010317","name":"Scapular aplasia"} {"id":"HP:0010318","name":"Aplasia/Hypoplasia of the abdominal wall musculature"} {"id":"HP:0010319","name":"Abnormality of the 2nd toe"} {"id":"HP:0010320","name":"Abnormality of the 3rd toe"} {"id":"HP:0010321","name":"Abnormality of the 4th toe"} {"id":"HP:0010322","name":"Abnormality of the 5th toe"} {"id":"HP:0010323","name":"Abnormality of the epiphyses of the 2nd toe"} {"id":"HP:0010324","name":"Abnormality of phalanx of the 2nd toe"} {"id":"HP:0010325","name":"Aplasia/Hypoplasia of the 2nd toe"} {"id":"HP:0010326","name":"Deviation of the 2nd toe"} {"id":"HP:0010327","name":"Flexion contracture of the 2nd toe"} {"id":"HP:0010328","name":"Polydactyly affecting the 2nd toe"} {"id":"HP:0010329","name":"Abnormality of the epiphyses of the 3rd toe"} {"id":"HP:0010330","name":"Abnormality of the phalanges of the 3rd toe"} {"id":"HP:0010331","name":"Aplasia/Hypoplasia of the 3rd toe"} {"id":"HP:0010332","name":"Deviation of the 3rd toe"} {"id":"HP:0010333","name":"Flexion contracture of 3rd toe"} {"id":"HP:0010334","name":"Polydactyly affecting the 3rd toe"} {"id":"HP:0010335","name":"Abnormality of the epiphyses of the 4th toe"} {"id":"HP:0010336","name":"Abnormality of the phalanges of the 4th toe"} {"id":"HP:0010337","name":"Aplasia/Hypoplasia of the 4th toe"} {"id":"HP:0010338","name":"Deviation of the 4th toe"} {"id":"HP:0010339","name":"Flexion contracture of the 4th toe"} {"id":"HP:0010340","name":"Polydactyly affecting the 4th toe"} {"id":"HP:0010341","name":"Abnormality of the epiphyses of the 5th toe"} {"id":"HP:0010342","name":"Abnormality of the phalanges of the 5th toe"} {"id":"HP:0010343","name":"Aplasia/Hypoplasia of the 5th toe"} {"id":"HP:0010344","name":"Deviation of the 5th toe"} {"id":"HP:0010345","name":"Flexion contracture of the 5th toe"} {"id":"HP:0010347","name":"Aplasia/Hypoplasia of the phalanges of the 2nd toe"} {"id":"HP:0010348","name":"Broad phalanges of the 2nd toe"} {"id":"HP:0010349","name":"Bullet-shaped 2nd toe phalanx"} {"id":"HP:0010350","name":"Curved 2nd toe phalanx"} {"id":"HP:0010351","name":"Osteolytic defects of the phalanges of the 2nd toe"} {"id":"HP:0010352","name":"Patchy sclerosis of 2nd toe phalanx"} {"id":"HP:0010353","name":"Symphalangism affecting the phalanges of the 2nd toe"} {"id":"HP:0010354","name":"Triangular shaped phalanges of the 2nd toe"} {"id":"HP:0010355","name":"Duplication of the phalanges of the 2nd toe"} {"id":"HP:0010356","name":"Abnormality of the distal phalanx of the 2nd toe"} {"id":"HP:0010357","name":"Abnormality of the middle phalanx of the 2nd toe"} {"id":"HP:0010358","name":"Abnormality of the proximal phalanx of the 2nd toe"} {"id":"HP:0010359","name":"Aplasia/Hypoplasia of the phalanges of the 3rd toe"} {"id":"HP:0010360","name":"Broad phalanges of the 3rd toe"} {"id":"HP:0010361","name":"Bullet-shaped 3rd toe phalanx"} {"id":"HP:0010362","name":"Curved 3rd toe phalanx"} {"id":"HP:0010363","name":"Osteolytic defects of the phalanges of the 3rd toe"} {"id":"HP:0010364","name":"Patchy sclerosis of 3rd toe phalanx"} {"id":"HP:0010365","name":"Symphalangism affecting the phalanges of the 3rd toe"} {"id":"HP:0010366","name":"Triangular shaped phalanges of the 3rd toe"} {"id":"HP:0010367","name":"Duplication of phalanx of the 3rd toe"} {"id":"HP:0010368","name":"Abnormality of the distal phalanx of the 3rd toe"} {"id":"HP:0010369","name":"Abnormality of the middle phalanx of the 3rd toe"} {"id":"HP:0010370","name":"Abnormality of the proximal phalanx of the 3rd toe"} {"id":"HP:0010371","name":"Aplasia/Hypoplasia of the phalanges of the 4th toe"} {"id":"HP:0010372","name":"Broad phalanges of the 4th toe"} {"id":"HP:0010373","name":"Bullet-shaped 4th toe phalanx"} {"id":"HP:0010374","name":"Curved 4th toe phalanx"} {"id":"HP:0010375","name":"Osteolytic defects of the phalanges of the 4th toe"} {"id":"HP:0010376","name":"Patchy sclerosis of 4th toe phalanx"} {"id":"HP:0010377","name":"Symphalangism affecting the phalanges of the 4th toe"} {"id":"HP:0010378","name":"Triangular shaped phalanges of the 4th toe"} {"id":"HP:0010379","name":"Duplication of phalanx of the 4th toe"} {"id":"HP:0010380","name":"Abnormality of the distal phalanx of the 4th toe"} {"id":"HP:0010381","name":"Abnormality of the middle phalanx of the 4th toe"} {"id":"HP:0010382","name":"Abnormality of the proximal phalanx of the 4th toe"} {"id":"HP:0010383","name":"Aplasia/Hypoplasia of the phalanges of the 5th toe"} {"id":"HP:0010384","name":"Broad phalanges of the 5th toe"} {"id":"HP:0010385","name":"Bullet-shaped 5th toe phalanx"} {"id":"HP:0010386","name":"Curved 5th toe phalanx"} {"id":"HP:0010387","name":"Osteolytic defects of the phalanges of the 5th toe"} {"id":"HP:0010388","name":"Patchy sclerosis of 5th toe phalanx"} {"id":"HP:0010389","name":"Symphalangism affecting the phalanges of the 5th toe"} {"id":"HP:0010390","name":"Triangular shaped phalanges of the 5th toe"} {"id":"HP:0010391","name":"Duplication of the phalanges of the 5th toe"} {"id":"HP:0010392","name":"Abnormality of the distal phalanx of the 5th toe"} {"id":"HP:0010393","name":"Abnormality of the middle phalanx of the 5th toe"} {"id":"HP:0010394","name":"Abnormality of the proximal phalanx of the 5th toe"} {"id":"HP:0010395","name":"Aplasia/hypoplasia of the proximal phalanx of the 2nd toe"} {"id":"HP:0010396","name":"Broad proximal phalanx of the 2nd toe"} {"id":"HP:0010397","name":"Bullet-shaped proximal phalanx of the 2nd toe"} {"id":"HP:0010398","name":"Curved proximal phalanx of the 2nd toe"} {"id":"HP:0010399","name":"Osteolytic defects of the proximal phalanx of the 2nd toe"} {"id":"HP:0010400","name":"Patchy sclerosis of the proximal phalanx of the 2nd toe"} {"id":"HP:0010401","name":"Symphalangism affecting the proximal phalanx of the 2nd toe"} {"id":"HP:0010402","name":"Triangular shaped proximal phalanx of the 2nd toe"} {"id":"HP:0010403","name":"Duplication of the proximal phalanx of the 2nd toe"} {"id":"HP:0010404","name":"Aplasia/Hypoplasia of the middle phalanx of the 2nd toe"} {"id":"HP:0010405","name":"Broad middle phalanx of the 2nd toe"} {"id":"HP:0010406","name":"Bullet-shaped middle phalanx of the 2nd toe"} {"id":"HP:0010407","name":"Curved middle phalanx of the 2nd toe"} {"id":"HP:0010408","name":"Osteolytic defects of the middle phalanx of the 2nd toe"} {"id":"HP:0010409","name":"Patchy sclerosis of the middle phalanx of the 2nd toe"} {"id":"HP:0010410","name":"Symphalangism affecting the middle phalanx of the 2nd toe"} {"id":"HP:0010411","name":"Triangular shaped middle phalanx of the 2nd toe"} {"id":"HP:0010412","name":"Duplication of the middle phalanx of the 2nd toe"} {"id":"HP:0010413","name":"Aplasia/Hypoplasia of the distal phalanx of the 2nd toe"} {"id":"HP:0010414","name":"Broad distal phalanx of the 2nd toe"} {"id":"HP:0010415","name":"Bullet-shaped distal phalanx of the 2nd toe"} {"id":"HP:0010416","name":"Curved distal phalanx of the 2nd toe"} {"id":"HP:0010417","name":"Osteolytic defects of the distal phalanx of the 2nd toe"} {"id":"HP:0010418","name":"Patchy sclerosis of the distal phalanx of the 2nd toe"} {"id":"HP:0010419","name":"Symphalangism affecting the distal phalanx of the 2nd toe"} {"id":"HP:0010420","name":"Triangular shaped distal phalanx of the 2nd toe"} {"id":"HP:0010421","name":"Duplication of the distal phalanx of the 2nd toe"} {"id":"HP:0010422","name":"Complete duplication of the proximal phalanx of the 2nd toe"} {"id":"HP:0010423","name":"Partial duplication of the proximal phalanx of the 2nd toe"} {"id":"HP:0010424","name":"Complete duplication of the distal phalanx of the 2nd toe"} {"id":"HP:0010425","name":"Partial duplication of the distal phalanx of the 2nd toe"} {"id":"HP:0010426","name":"Complete duplication of the middle phalanx of the 2nd toe"} {"id":"HP:0010427","name":"Partial duplication of the middle phalanx of the 2nd toe"} {"id":"HP:0010428","name":"Partial duplication of phalanx of the 2nd toe"} {"id":"HP:0010429","name":"Complete duplication of the phalanges of the 2nd toe"} {"id":"HP:0010430","name":"Aplasia of the phalanges of the 2nd toe"} {"id":"HP:0010431","name":"Short phalanx of the 2nd toe"} {"id":"HP:0010432","name":"Absent distal phalanx of the 2nd toe"} {"id":"HP:0010433","name":"Short distal phalanx of the 2nd toe"} {"id":"HP:0010434","name":"Aplasia of the middle phalanx of the 2nd toe"} {"id":"HP:0010435","name":"Short middle phalanx of the 2nd toe"} {"id":"HP:0010436","name":"Aplasia of the proximal phalanx of the 2nd toe"} {"id":"HP:0010437","name":"Short proximal phalanx of the 2nd toe"} {"id":"HP:0010438","name":"Abnormality of the ventricular septum"} {"id":"HP:0010440","name":"Ectopic accesory toe-like appendage"} {"id":"HP:0010441","name":"Ectopic accessory finger-like appendage"} {"id":"HP:0010442","name":"Polydactyly"} {"id":"HP:0010443","name":"Bifid femur"} {"id":"HP:0010444","name":"Pulmonary insufficiency"} {"id":"HP:0010445","name":"Primum atrial septal defect"} {"id":"HP:0010446","name":"Tricuspid stenosis"} {"id":"HP:0010447","name":"Anal fistula"} {"id":"HP:0010448","name":"Colonic atresia"} {"id":"HP:0010450","name":"Esophageal stenosis"} {"id":"HP:0010451","name":"Aplasia/Hypoplasia of the spleen"} {"id":"HP:0010452","name":"Ectopia of the spleen"} {"id":"HP:0010453","name":"Pelvic asymmetry"} {"id":"HP:0010454","name":"Acetabular spurs"} {"id":"HP:0010455","name":"Steep acetabular roof"} {"id":"HP:0010456","name":"Abnormality of the greater sacrosciatic notch"} {"id":"HP:0010457","name":"Widening of the sacrosciatic notch"} {"id":"HP:0010458","name":"Female pseudohermaphroditism"} {"id":"HP:0010459","name":"True hermaphroditism"} {"id":"HP:0010460","name":"Abnormality of the female genitalia"} {"id":"HP:0010461","name":"Abnormality of the male genitalia"} {"id":"HP:0010462","name":"Aplasia/Hypoplasia of the ovary"} {"id":"HP:0010463","name":"Aplasia of the ovary"} {"id":"HP:0010464","name":"Streak ovary"} {"id":"HP:0010465","name":"Precocious puberty in females"} {"id":"HP:0010468","name":"Aplasia/Hypoplasia of the testes"} {"id":"HP:0010469","name":"Aplasia of the testes"} {"id":"HP:0010470","name":"Supernumerary testes"} {"id":"HP:0010471","name":"Oligosacchariduria"} {"id":"HP:0010472","name":"Abnormality of the heme biosynthetic pathway"} {"id":"HP:0010473","name":"Porphyrinuria"} {"id":"HP:0010474","name":"Bladder stones"} {"id":"HP:0010475","name":"Cloacal exstrophy"} {"id":"HP:0010476","name":"Aplasia/Hypoplasia of the bladder"} {"id":"HP:0010477","name":"Aplasia of the bladder"} {"id":"HP:0010478","name":"Abnormality of the urachus"} {"id":"HP:0010479","name":"Patent urachus"} {"id":"HP:0010480","name":"Urethral fistula"} {"id":"HP:0010481","name":"Urethral valve"} {"id":"HP:0010482","name":"Acromelia of the upper limbs"} {"id":"HP:0010483","name":"Amniotic constriction rings of arms"} {"id":"HP:0010484","name":"Hypertrophy of the upper limb"} {"id":"HP:0010485","name":"Hyperextensibility at elbow"} {"id":"HP:0010486","name":"Abnormality of the hypothenar eminence"} {"id":"HP:0010487","name":"Small hypothenar eminence"} {"id":"HP:0010488","name":"Aplasia/Hypoplasia of the palmar creases"} {"id":"HP:0010489","name":"Absent palmar crease"} {"id":"HP:0010490","name":"Abnormality of the palmar creases"} {"id":"HP:0010491","name":"Digital constriction ring"} {"id":"HP:0010492","name":"Osseous finger syndactyly"} {"id":"HP:0010493","name":"Long metacarpals"} {"id":"HP:0010494","name":"Acromelia of the lower limbs"} {"id":"HP:0010495","name":"Amniotic constriction rings of legs"} {"id":"HP:0010496","name":"Hypertrophy of the lower limb"} {"id":"HP:0010497","name":"Sirenomelia"} {"id":"HP:0010498","name":"Bipartite patella"} {"id":"HP:0010499","name":"Patellar subluxation"} {"id":"HP:0010500","name":"Hyperextensibility of the knee"} {"id":"HP:0010501","name":"Limitation of knee mobility"} {"id":"HP:0010502","name":"Fibular bowing"} {"id":"HP:0010503","name":"Fibular duplication"} {"id":"HP:0010504","name":"Increased length of the tibia"} {"id":"HP:0010505","name":"Limitation of movement at ankles"} {"id":"HP:0010506","name":"Abnormal plantar dermatoglyphics"} {"id":"HP:0010507","name":"Foot asymmetry"} {"id":"HP:0010508","name":"Metatarsus valgus"} {"id":"HP:0010509","name":"Aplasia of the tarsal bones"} {"id":"HP:0010510","name":"Hypermobility of toe joints"} {"id":"HP:0010511","name":"Long toe"} {"id":"HP:0010512","name":"Adrenal calcification"} {"id":"HP:0010513","name":"Pituitary calcification"} {"id":"HP:0010514","name":"Hyperpituitarism"} {"id":"HP:0010515","name":"Aplasia/Hypoplasia of the thymus"} {"id":"HP:0010516","name":"Thymus hyperplasia"} {"id":"HP:0010517","name":"Ectopic thymus tissue"} {"id":"HP:0010518","name":"Thyroglossal cyst"} {"id":"HP:0010519","name":"Increased fetal movement"} {"id":"HP:0010521","name":"Gait apraxia"} {"id":"HP:0010522","name":"Dyslexia"} {"id":"HP:0010523","name":"Alexia"} {"id":"HP:0010524","name":"Agnosia"} {"id":"HP:0010525","name":"Finger agnosia"} {"id":"HP:0010526","name":"Dysgraphia"} {"id":"HP:0010527","name":"Astereognosia"} {"id":"HP:0010528","name":"Prosopagnosia"} {"id":"HP:0010529","name":"Echolalia"} {"id":"HP:0010530","name":"Palatal myoclonus"} {"id":"HP:0010531","name":"Spinal myoclonus"} {"id":"HP:0010532","name":"Paroxysmal vertigo"} {"id":"HP:0010533","name":"Spasmus nutans"} {"id":"HP:0010534","name":"Transient global amnesia"} {"id":"HP:0010535","name":"Sleep apnea"} {"id":"HP:0010536","name":"Central sleep apnea"} {"id":"HP:0010537","name":"Wide cranial sutures"} {"id":"HP:0010538","name":"Small sella turcica"} {"id":"HP:0010539","name":"Thin calvarium"} {"id":"HP:0010540","name":"Advanced pneumatization of cranial sinuses"} {"id":"HP:0010541","name":"Cutis gyrata of scalp"} {"id":"HP:0010542","name":"Vestibular nystagmus"} {"id":"HP:0010543","name":"Opsoclonus"} {"id":"HP:0010544","name":"Vertical nystagmus"} {"id":"HP:0010545","name":"Downbeat nystagmus"} {"id":"HP:0010546","name":"Muscle fibrillation"} {"id":"HP:0010547","name":"Muscle flaccidity"} {"id":"HP:0010548","name":"Percussion myotonia"} {"id":"HP:0010549","name":"Weakness due to upper motor neuron dysfunction"} {"id":"HP:0010550","name":"Paraplegia"} {"id":"HP:0010551","name":"Paraplegia/paraparesis"} {"id":"HP:0010553","name":"Oculogyric crisis"} {"id":"HP:0010554","name":"Cutaneous finger syndactyly"} {"id":"HP:0010557","name":"Overlapping fingers"} {"id":"HP:0010558","name":"Abnormality of the clivus"} {"id":"HP:0010559","name":"Vertical clivus"} {"id":"HP:0010560","name":"Undulate clavicles"} {"id":"HP:0010561","name":"Undulate ribs"} {"id":"HP:0010562","name":"Keloids"} {"id":"HP:0010564","name":"Bifid epiglottis"} {"id":"HP:0010565","name":"Aplasia/Hypoplasia of the Epiglottis"} {"id":"HP:0010566","name":"Hamartoma"} {"id":"HP:0010567","name":"Y-shaped metatarsals"} {"id":"HP:0010568","name":"Hamartoma of the eye"} {"id":"HP:0010569","name":"Elevated 7-dehydrocholesterol"} {"id":"HP:0010570","name":"Low maternal serum alpha-fetoprotein"} {"id":"HP:0010571","name":"Elevated levels of phytanic acid"} {"id":"HP:0010574","name":"Abnormality of the epiphysis of the femoral head"} {"id":"HP:0010575","name":"Dysplasia of the femoral head"} {"id":"HP:0010576","name":"Intracranial cystic lesion"} {"id":"HP:0010577","name":"Absent epiphyses"} {"id":"HP:0010578","name":"Bracket epiphyses"} {"id":"HP:0010579","name":"Cone-shaped epiphysis"} {"id":"HP:0010580","name":"Enlarged epiphyses"} {"id":"HP:0010582","name":"Irregular epiphyses"} {"id":"HP:0010583","name":"Ivory epiphyses"} {"id":"HP:0010584","name":"Pseudoepiphyses"} {"id":"HP:0010585","name":"Small epiphyses"} {"id":"HP:0010587","name":"Triangular epiphyses"} {"id":"HP:0010588","name":"Premature epimetaphyseal fusion"} {"id":"HP:0010590","name":"Abnormality of the distal femoral epiphysis"} {"id":"HP:0010591","name":"Abnormality of the proximal tibial epiphysis"} {"id":"HP:0010592","name":"Abnormality of the distal tibial epiphysis"} {"id":"HP:0010593","name":"Abnormality of fibular epiphyses"} {"id":"HP:0010594","name":"Abnormality of the proximal fibular epiphysis"} {"id":"HP:0010595","name":"Abnormality of the distal fibular epiphysis"} {"id":"HP:0010596","name":"Abnormality of the proximal radial epiphysis"} {"id":"HP:0010597","name":"Abnormality of the distal radial epiphysis"} {"id":"HP:0010598","name":"Abnormality of the proximal humeral epiphysis"} {"id":"HP:0010599","name":"Abnormality of the distal humeral epiphysis"} {"id":"HP:0010600","name":"Abnormality of the distal ulnar epiphysis"} {"id":"HP:0010601","name":"Abnormality of the proximal ulnar epiphysis"} {"id":"HP:0010602","name":"Type 2 muscle fiber predominance"} {"id":"HP:0010603","name":"Keratocystic odontogenic tumor"} {"id":"HP:0010604","name":"Cyst of the eyelid"} {"id":"HP:0010605","name":"Chalazion"} {"id":"HP:0010606","name":"Hordeolum"} {"id":"HP:0010607","name":"Hordeolum externum"} {"id":"HP:0010608","name":"Hordeolum internum"} {"id":"HP:0010609","name":"Skin tags"} {"id":"HP:0010610","name":"Palmar pits"} {"id":"HP:0010612","name":"Plantar pits"} {"id":"HP:0010614","name":"Fibroma"} {"id":"HP:0010615","name":"Angiofibromas"} {"id":"HP:0010616","name":"Lung fibroma"} {"id":"HP:0010617","name":"Cardiac fibroma"} {"id":"HP:0010618","name":"Ovarian fibroma"} {"id":"HP:0010619","name":"Fibroma of the breast"} {"id":"HP:0010620","name":"Malar prominence"} {"id":"HP:0010621","name":"Cutaneous syndactyly of toes"} {"id":"HP:0010622","name":"Neoplasm of the skeletal system"} {"id":"HP:0010624","name":"Aplastic/hypoplastic toenail"} {"id":"HP:0010625","name":"Anterior pituitary dysgenesis"} {"id":"HP:0010626","name":"Anterior pituitary agenesis"} {"id":"HP:0010627","name":"Anterior pituitary hypoplasia"} {"id":"HP:0010628","name":"Facial palsy"} {"id":"HP:0010629","name":"Abnormality of the cortex of the humerus"} {"id":"HP:0010630","name":"Abnormality of metatarsal epiphysis"} {"id":"HP:0010631","name":"Abnormality of the epiphyses of the feet"} {"id":"HP:0010632","name":"Total anosmia"} {"id":"HP:0010633","name":"Partial anosmia"} {"id":"HP:0010634","name":"Total hyposmia"} {"id":"HP:0010635","name":"Partial hyposmia"} {"id":"HP:0010636","name":"Schizencephaly"} {"id":"HP:0010637","name":"Conjunctival amyloidosis"} {"id":"HP:0010638","name":"Elevated alkaline phosphatase of hepatic origin"} {"id":"HP:0010639","name":"Elevated alkaline phosphatase of bone origin"} {"id":"HP:0010640","name":"Abnormality of the nasal cavity"} {"id":"HP:0010641","name":"Abnormality of the midnasal cavity"} {"id":"HP:0010643","name":"Midnasal atresia"} {"id":"HP:0010644","name":"Midnasal stenosis"} {"id":"HP:0010645","name":"Aplasia of the distal phalanges of the toes"} {"id":"HP:0010646","name":"Cervical spine instability"} {"id":"HP:0010647","name":"Abnormal elasticity of skin"} {"id":"HP:0010648","name":"Dermal translucency"} {"id":"HP:0010649","name":"Flat nasal alae"} {"id":"HP:0010650","name":"Premaxillary underdevelopment"} {"id":"HP:0010651","name":"Abnormality of the meninges"} {"id":"HP:0010652","name":"Abnormality of the dura mater"} {"id":"HP:0010653","name":"Abnormality of the falx cerebri"} {"id":"HP:0010654","name":"Aplasia of the falx cerebri"} {"id":"HP:0010655","name":"Epiphyseal stippling"} {"id":"HP:0010656","name":"Abnormal epiphyseal ossification"} {"id":"HP:0010657","name":"Patchy reduction of bone mineral density"} {"id":"HP:0010658","name":"Patchy changes of bone mineral density"} {"id":"HP:0010659","name":"Patchy variation in bone mineral density"} {"id":"HP:0010660","name":"Abnormal hand bone ossification"} {"id":"HP:0010661","name":"Absence of the third cerebral ventricle"} {"id":"HP:0010662","name":"Abnormality of the diencephalon"} {"id":"HP:0010663","name":"Abnormality of thalamus morphology"} {"id":"HP:0010664","name":"Fusion of the left and right thalami"} {"id":"HP:0010665","name":"Bilateral coxa valga"} {"id":"HP:0010666","name":"Hypoplasia of the anterior nasal spine"} {"id":"HP:0010667","name":"Aplasia of the maxilla"} {"id":"HP:0010668","name":"Abnormality of the zygomatic bone"} {"id":"HP:0010669","name":"Cheekbone underdevelopment"} {"id":"HP:0010672","name":"Abnormality of the third metatarsal bone"} {"id":"HP:0010674","name":"Abnormality of the curvature of the vertebral column"} {"id":"HP:0010675","name":"Abnormal foot bone ossification"} {"id":"HP:0010676","name":"Mechanical ileus"} {"id":"HP:0010677","name":"Enuresis nocturna"} {"id":"HP:0010678","name":"Enuresis diurna"} {"id":"HP:0010679","name":"Elevated tissue non-specific alkaline phosphatase"} {"id":"HP:0010680","name":"Elevated alkaline phosphatase of renal origin"} {"id":"HP:0010681","name":"Elevated intestinal alkaline phosphatase"} {"id":"HP:0010682","name":"Elevated placental alkaline phosphatase"} {"id":"HP:0010683","name":"Low tissue non-specific alkaline phosphatase"} {"id":"HP:0010684","name":"Low alkaline phosphatase of bone origin"} {"id":"HP:0010685","name":"Low alkaline phosphatase of renal origin"} {"id":"HP:0010686","name":"Low alkaline phosphatase of hepatic origin"} {"id":"HP:0010687","name":"Low intestinal alkaline phosphatase"} {"id":"HP:0010688","name":"Low placental alkaline phosphatase"} {"id":"HP:0010689","name":"Mirror image polydactyly"} {"id":"HP:0010690","name":"Mirror image hand polydactyly"} {"id":"HP:0010691","name":"Mirror image foot polydactyly"} {"id":"HP:0010692","name":"2-5 finger syndactyly"} {"id":"HP:0010693","name":"Pulverulent Cataract"} {"id":"HP:0010694","name":"Lamellar pulverulent cataract"} {"id":"HP:0010695","name":"Sutural cataract"} {"id":"HP:0010696","name":"Polar cataract"} {"id":"HP:0010697","name":"Anterior pyramidal cataract"} {"id":"HP:0010698","name":"Nuclear pulverulent cataract"} {"id":"HP:0010699","name":"Triangular nuclear cataract"} {"id":"HP:0010700","name":"Total cataract"} {"id":"HP:0010701","name":"Abnormal immunoglobulin level"} {"id":"HP:0010702","name":"Hypergammaglobulinemia"} {"id":"HP:0010704","name":"1-2 finger syndactyly"} {"id":"HP:0010705","name":"4-5 finger syndactyly"} {"id":"HP:0010706","name":"1-3 finger syndactyly"} {"id":"HP:0010707","name":"1-4 finger syndactyly"} {"id":"HP:0010708","name":"1-5 finger syndactyly"} {"id":"HP:0010709","name":"2-4 finger syndactyly"} {"id":"HP:0010710","name":"3-5 finger syndactyly"} {"id":"HP:0010711","name":"1-2 toe syndactyly"} {"id":"HP:0010712","name":"1-4 toe syndactyly"} {"id":"HP:0010713","name":"1-5 toe syndactyly"} {"id":"HP:0010714","name":"2-4 toe syndactyly"} {"id":"HP:0010715","name":"2-5 toe syndactyly"} {"id":"HP:0010716","name":"3-5 toe syndactyly"} {"id":"HP:0010717","name":"Osseous syndactyly of toes"} {"id":"HP:0010719","name":"Abnormality of hair texture"} {"id":"HP:0010720","name":"Abnormal hair pattern"} {"id":"HP:0010721","name":"Abnormal hair whorl"} {"id":"HP:0010722","name":"Asymmetry of the ears"} {"id":"HP:0010723","name":"Cystic lesions of the pinnae"} {"id":"HP:0010724","name":"Advanced pneumatization of the mastoid process"} {"id":"HP:0010726","name":"Prominent corneal nerve fibers"} {"id":"HP:0010727","name":"Spontaneous rupture of the globe"} {"id":"HP:0010728","name":"Aplasia of the retina"} {"id":"HP:0010729","name":"Cherry red spot of the macula"} {"id":"HP:0010730","name":"Double eyebrow"} {"id":"HP:0010731","name":"Extension of eyebrows towards upper eyelid"} {"id":"HP:0010732","name":"Nodular changes affecting the eyelids"} {"id":"HP:0010733","name":"Naevus flammeus of the eyelid"} {"id":"HP:0010734","name":"Fibrous dysplasia of the bones"} {"id":"HP:0010735","name":"Polyostotic fibrous dysplasia"} {"id":"HP:0010736","name":"Monostotic fibrous dysplasia"} {"id":"HP:0010739","name":"Osteopoikilosis"} {"id":"HP:0010740","name":"Osteopathia striata"} {"id":"HP:0010741","name":"Edema of the lower limbs"} {"id":"HP:0010742","name":"Edema of the upper limbs"} {"id":"HP:0010743","name":"Short metatarsal"} {"id":"HP:0010744","name":"Absent metatarsal bone"} {"id":"HP:0010745","name":"Aplasia of the phalanges of the toes"} {"id":"HP:0010746","name":"Hypoplasia of the phalanges of the toes"} {"id":"HP:0010747","name":"Medial flaring of the eyebrow"} {"id":"HP:0010748","name":"Ectopic lacrimal punctum"} {"id":"HP:0010749","name":"Blepharochalasis"} {"id":"HP:0010750","name":"Dermatochalasis"} {"id":"HP:0010751","name":"Chin dimple"} {"id":"HP:0010752","name":"Cleft mandible"} {"id":"HP:0010753","name":"Midline defect of mandible"} {"id":"HP:0010754","name":"Abnormality of the temporomandibular joint"} {"id":"HP:0010755","name":"Asymmetry of the maxilla"} {"id":"HP:0010756","name":"Aplasia/Hypoplasia of the premaxilla"} {"id":"HP:0010757","name":"Aplasia of the premaxilla"} {"id":"HP:0010758","name":"Abnormality of the premaxilla"} {"id":"HP:0010759","name":"Premaxillary Prominence"} {"id":"HP:0010760","name":"Absent toe"} {"id":"HP:0010761","name":"Broad columella"} {"id":"HP:0010762","name":"Chordoma"} {"id":"HP:0010763","name":"Low insertion of columella"} {"id":"HP:0010764","name":"Short eyelashes"} {"id":"HP:0010765","name":"Palmar hyperkeratosis"} {"id":"HP:0010766","name":"Ectopic calcification"} {"id":"HP:0010767","name":"Sacrococcygeal pilonidal abnormality"} {"id":"HP:0010769","name":"Pilonidal sinus"} {"id":"HP:0010770","name":"Pilonidal fistula"} {"id":"HP:0010771","name":"Pilonidal abscess"} {"id":"HP:0010772","name":"Anomalous pulmonary venous return"} {"id":"HP:0010773","name":"Partial anomalous pulmonary venous return"} {"id":"HP:0010774","name":"Cor triatriatrum"} {"id":"HP:0010775","name":"Vascular ring"} {"id":"HP:0010776","name":"Tracheobronchmegaly"} {"id":"HP:0010777","name":"Bronchomegaly"} {"id":"HP:0010778","name":"Tracheomegaly"} {"id":"HP:0010779","name":"Large pelvis"} {"id":"HP:0010780","name":"Hyperacusis"} {"id":"HP:0010781","name":"Skin dimples"} {"id":"HP:0010782","name":"Shoulder dimples"} {"id":"HP:0010783","name":"Erythema"} {"id":"HP:0010784","name":"Uterine neoplasm"} {"id":"HP:0010785","name":"Gonadal neoplasm"} {"id":"HP:0010786","name":"Urinary tract neoplasm"} {"id":"HP:0010787","name":"Genital neoplasm"} {"id":"HP:0010788","name":"Testicular neoplasm"} {"id":"HP:0010789","name":"Abnormality of the Leydig cells"} {"id":"HP:0010790","name":"Hyoplasia of the Leydig cells"} {"id":"HP:0010791","name":"Hyperplasia of the Leydig cells"} {"id":"HP:0010793","name":"Bifid nail"} {"id":"HP:0010794","name":"Impaired visuospatial constructive cognition"} {"id":"HP:0010795","name":"Cerebellar glioma"} {"id":"HP:0010796","name":"Brainstem glioma"} {"id":"HP:0010797","name":"Hemangioblastoma"} {"id":"HP:0010798","name":"Lip freckle"} {"id":"HP:0010799","name":"Pinealoma"} {"id":"HP:0010800","name":"Absent cupid's bow"} {"id":"HP:0010801","name":"Underdeveloped nasolabial fold"} {"id":"HP:0010802","name":"Perioral hyperpigmentation"} {"id":"HP:0010803","name":"Everted upper lip vermilion"} {"id":"HP:0010804","name":"Tented upper lip vermilion"} {"id":"HP:0010805","name":"Upturned corners of mouth"} {"id":"HP:0010806","name":"U-Shaped upper lip vermilion"} {"id":"HP:0010807","name":"Open bite"} {"id":"HP:0010808","name":"Protruding tongue"} {"id":"HP:0010809","name":"Broad uvula"} {"id":"HP:0010810","name":"Long uvula"} {"id":"HP:0010811","name":"Narrow uvula"} {"id":"HP:0010812","name":"Short uvula"} {"id":"HP:0010813","name":"Abnormal number of hair whorls"} {"id":"HP:0010814","name":"Abnormal position of hair whorl"} {"id":"HP:0010815","name":"Nevus sebaceous"} {"id":"HP:0010816","name":"Epidermal nevus"} {"id":"HP:0010817","name":"Linear nevus sebaceous"} {"id":"HP:0010818","name":"Generalized tonic seizures"} {"id":"HP:0010819","name":"Atonic seizures"} {"id":"HP:0010820","name":"Dacrystic seizures"} {"id":"HP:0010821","name":"Gelastic seizures"} {"id":"HP:0010822","name":"Scintillating scotoma"} {"id":"HP:0010823","name":"Ridged cranial sutures"} {"id":"HP:0010824","name":"Abnormality of the fifth cranial nerve"} {"id":"HP:0010825","name":"Abnormality of the eleventh cranial nerve"} {"id":"HP:0010826","name":"Abnormality of the twelfth cranial nerve"} {"id":"HP:0010827","name":"Abnormality of the seventh cranial nerve"} {"id":"HP:0010828","name":"Hemifacial spasm"} {"id":"HP:0010829","name":"Impaired temperature sensation"} {"id":"HP:0010830","name":"Impaired tactile sensation"} {"id":"HP:0010831","name":"Impaired proprioception"} {"id":"HP:0010832","name":"Abnormality of pain sensation"} {"id":"HP:0010833","name":"Spontaneous pain sensation"} {"id":"HP:0010834","name":"Trophic changes related to pain"} {"id":"HP:0010835","name":"Dissociated sensory loss"} {"id":"HP:0010836","name":"Abnormality of copper homeostasis"} {"id":"HP:0010837","name":"Decreased serum ceruloplasmin"} {"id":"HP:0010838","name":"High nonceruloplasmin-bound serum copper"} {"id":"HP:0010839","name":"Increased urinary copper concentration"} {"id":"HP:0010841","name":"Multifocal epileptiform discharges"} {"id":"HP:0010843","name":"EEG with focal slow activity"} {"id":"HP:0010844","name":"EEG with multifocal slow activity"} {"id":"HP:0010845","name":"EEG with generalized slow activity"} {"id":"HP:0010846","name":"EEG with persistent abnormal rhythmic activity"} {"id":"HP:0010847","name":"EEG with spike-wave complexes (<2.5 Hz)"} {"id":"HP:0010848","name":"EEG with spike-wave complexes (2.5-3.5 Hz)"} {"id":"HP:0010849","name":"EEG with spike-wave complexes (>3.5 Hz)"} {"id":"HP:0010850","name":"EEG with spike-wave complexes"} {"id":"HP:0010851","name":"EEG with burst suppression"} {"id":"HP:0010852","name":"EEG with photoparoxysmal response"} {"id":"HP:0010853","name":"EEG with periodic lateralized epileptiform discharges"} {"id":"HP:0010854","name":"EEG with generalized low amplitude activity"} {"id":"HP:0010855","name":"EEG with localized low amplitude activity"} {"id":"HP:0010856","name":"EEG with periodic complexes"} {"id":"HP:0010857","name":"EEG with periodic abnormalities"} {"id":"HP:0010858","name":"EEG with hyperventilation-induced epileptiform discharges"} {"id":"HP:0010859","name":"Frank breech presentation"} {"id":"HP:0010860","name":"Complete breech presentation"} {"id":"HP:0010861","name":"Incomplete breech presentation"} {"id":"HP:0010862","name":"Delayed fine motor development"} {"id":"HP:0010863","name":"Receptive language delay"} {"id":"HP:0010864","name":"Intellectual disability, severe"} {"id":"HP:0010865","name":"Oppositional defiant disorder"} {"id":"HP:0010866","name":"Abdominal wall defect"} {"id":"HP:0010867","name":"Dyssynergia"} {"id":"HP:0010868","name":"Ocular dyssynergia"} {"id":"HP:0010869","name":"Asynergia"} {"id":"HP:0010871","name":"Sensory ataxia"} {"id":"HP:0010872","name":"EKG: T-wave inversion"} {"id":"HP:0010873","name":"Cervical spinal cord atrophy"} {"id":"HP:0010874","name":"Tendon xanthomatosis"} {"id":"HP:0010875","name":"Chaddock reflex"} {"id":"HP:0010876","name":"Abnormality of circulating protein level"} {"id":"HP:0010877","name":"Unilateral strabismus"} {"id":"HP:0010878","name":"Fetal cystic hygroma"} {"id":"HP:0010879","name":"Postnatal cystic hygroma"} {"id":"HP:0010880","name":"Increased nuchal translucency"} {"id":"HP:0010881","name":"Abnormality of the umbilical cord"} {"id":"HP:0010882","name":"Pulmonary valve atresia"} {"id":"HP:0010883","name":"Aortic valve atresia"} {"id":"HP:0010884","name":"Acromelia"} {"id":"HP:0010885","name":"Aseptic necrosis"} {"id":"HP:0010886","name":"Osteochondrosis dissecans"} {"id":"HP:0010888","name":"Morbus Koehler"} {"id":"HP:0010889","name":"Morbus Kienboeck"} {"id":"HP:0010890","name":"Morbus Osgood-Schlatter"} {"id":"HP:0010891","name":"Morbus Scheuermann"} {"id":"HP:0010892","name":"Abnormality of branched chain family amino acid metabolism"} {"id":"HP:0010893","name":"Abnormality of phenylalanine metabolism"} {"id":"HP:0010894","name":"Abnormality of serine family amino acid metabolism"} {"id":"HP:0010895","name":"Abnormality of glycine metabolism"} {"id":"HP:0010896","name":"Hypersarcosinemia"} {"id":"HP:0010897","name":"Hypersarcosinuria"} {"id":"HP:0010898","name":"Abnormality of sarcosine metabolism"} {"id":"HP:0010899","name":"Abnormality of aspartate family amino acid metabolism"} {"id":"HP:0010900","name":"Abnormality of threonine metabolism"} {"id":"HP:0010901","name":"Abnormality of methionine metabolism"} {"id":"HP:0010902","name":"Abnormality of glutamine family amino acid metabolism"} {"id":"HP:0010903","name":"Abnormality of glutamine metabolism"} {"id":"HP:0010904","name":"Abnormality of histidine metabolism"} {"id":"HP:0010906","name":"Hyperhistidinemia"} {"id":"HP:0010907","name":"Abnormality of proline metabolism"} {"id":"HP:0010908","name":"Abnormality of lysine metabolism"} {"id":"HP:0010909","name":"Abnormality of arginine metabolism"} {"id":"HP:0010910","name":"Hypervalinemia"} {"id":"HP:0010911","name":"Hyperleucinemia"} {"id":"HP:0010912","name":"Abnormality of isoleucine metabolism"} {"id":"HP:0010913","name":"Hyperisoleucinemia"} {"id":"HP:0010914","name":"Abnormality of valine metabolism"} {"id":"HP:0010915","name":"Abnormality of pyruvate family amino acid metabolism"} {"id":"HP:0010916","name":"Abnormality of alanine metabolism"} {"id":"HP:0010917","name":"Abnormality of tyrosine metabolism"} {"id":"HP:0010918","name":"Abnormality of cysteine metabolism"} {"id":"HP:0010919","name":"Abnormality of homocysteine metabolism"} {"id":"HP:0010920","name":"Zonular cataract"} {"id":"HP:0010921","name":"Coralliform cataract"} {"id":"HP:0010922","name":"Membranous cataract"} {"id":"HP:0010923","name":"Anterior subcapsular cataract"} {"id":"HP:0010924","name":"Posterior cortical cataract"} {"id":"HP:0010925","name":"Nuclear punctate cataract"} {"id":"HP:0010926","name":"Aculeiform cataract"} {"id":"HP:0010927","name":"Abnormality of divalent inorganic cation homeostasis"} {"id":"HP:0010928","name":"Abnormality of orotic acid metabolism"} {"id":"HP:0010929","name":"Abnormality of cation homeostasis"} {"id":"HP:0010930","name":"Abnormality of monovalent inorganic cation homeostasis"} {"id":"HP:0010931","name":"Abnormality of sodium homeostasis"} {"id":"HP:0010932","name":"Abnormality of nucleobase metabolism"} {"id":"HP:0010933","name":"Abnormality of xanthine metabolism"} {"id":"HP:0010934","name":"Xanthinuria"} {"id":"HP:0010935","name":"Abnormality of the upper urinary tract"} {"id":"HP:0010936","name":"Abnormality of the lower urinary tract"} {"id":"HP:0010937","name":"Abnormality of the nasal skeleton"} {"id":"HP:0010938","name":"Abnormality of the external nose"} {"id":"HP:0010939","name":"Abnormality of the nasal bone"} {"id":"HP:0010940","name":"Aplasia/Hypoplasia of the nasal bone"} {"id":"HP:0010941","name":"Aplasia of the nasal bone"} {"id":"HP:0010942","name":"Echogenic intracardiac focus"} {"id":"HP:0010943","name":"Echogenic fetal bowel"} {"id":"HP:0010944","name":"Abnormality of the renal pelvis"} {"id":"HP:0010945","name":"Fetal pyelectasis"} {"id":"HP:0010946","name":"Dilatation of the renal pelvis"} {"id":"HP:0010947","name":"Abnormality of ductus venosus blood flow"} {"id":"HP:0010948","name":"Abnormality of the fetal cardiovascular system"} {"id":"HP:0010949","name":"Abnormality of umbilical vein blood flow"} {"id":"HP:0010950","name":"Abnormality of the fourth ventricle"} {"id":"HP:0010951","name":"Abnormality of the third ventricle"} {"id":"HP:0010952","name":"Mild fetal ventriculomegaly"} {"id":"HP:0010953","name":"Noncommunicating hydrocephalus"} {"id":"HP:0010954","name":"Hypoplastic right heart"} {"id":"HP:0010955","name":"Dilatation of the bladder"} {"id":"HP:0010956","name":"Fetal megacystis"} {"id":"HP:0010957","name":"Congenital posterior urethral valve"} {"id":"HP:0010958","name":"Bilateral renal agenesis"} {"id":"HP:0010959","name":"Congenital cystic adenomatoid malformation of the lung"} {"id":"HP:0010960","name":"Bronchopulmonary sequestration"} {"id":"HP:0010961","name":"Intralobar sequestration"} {"id":"HP:0010962","name":"Extralobar sequestration"} {"id":"HP:0010963","name":"Absence of stomach bubble on fetal sonography"} {"id":"HP:0010964","name":"Abnormality of long-chain fatty-acid metabolism"} {"id":"HP:0010965","name":"Abnormality of phytanic acid metabolism"} {"id":"HP:0010966","name":"Abnormality of fatty-acid anion metabolism"} {"id":"HP:0010967","name":"Abnormality of carnitine metabolism"} {"id":"HP:0010968","name":"Abnormality of liposaccharide metabolism"} {"id":"HP:0010969","name":"Abnormality of glycolipid metabolism"} {"id":"HP:0010970","name":"Blood group antigen abnormality"} {"id":"HP:0010971","name":"Absence of Lutheran antigen on erythrocytes"} {"id":"HP:0010972","name":"Anemia of inadequate production"} {"id":"HP:0010974","name":"Abnormality of myeloid leukocytes"} {"id":"HP:0010975","name":"Abnormality of B cell number"} {"id":"HP:0010976","name":"B lymphocytopenia"} {"id":"HP:0010977","name":"Abnormality of phagocytes"} {"id":"HP:0010978","name":"Abnormality of immune system physiology"} {"id":"HP:0010979","name":"Abnormality of the level of lipoprotein cholesterol"} {"id":"HP:0010980","name":"Hyperlipoproteinemia"} {"id":"HP:0010981","name":"Hypolipoproteinemia"} {"id":"HP:0010987","name":"Abnormality of cellular immune system"} {"id":"HP:0010988","name":"Abnormality of the extrinsic pathway"} {"id":"HP:0010989","name":"Abnormality of the intrinsic pathway"} {"id":"HP:0010990","name":"Abnormality of the common coagulation pathway"} {"id":"HP:0010991","name":"Abnormality of the abdominal musculature"} {"id":"HP:0010992","name":"Stress urinary incontinence"} {"id":"HP:0010993","name":"Abnormality of the cerebral subcortex"} {"id":"HP:0010994","name":"Abnormality of the striatum"} {"id":"HP:0010995","name":"Abnormality of dicarboxylic acid metabolism"} {"id":"HP:0010996","name":"Abnormality of monocarboxylic acid metabolism"} {"id":"HP:0010997","name":"Chromosomal breakage induced by ionizing radiation"} {"id":"HP:0010998","name":"Increased susceptibility to spontaneous sister chromatid exchange"} {"id":"HP:0010999","name":"Aplasia of the optic tract"} {"id":"HP:0011000","name":"Aplasia/Hypoplasia of the optic tract"} {"id":"HP:0011001","name":"Increased bone mineral density"} {"id":"HP:0011002","name":"Osteopetrosis"} {"id":"HP:0011003","name":"Severe Myopia"} {"id":"HP:0011004","name":"Abnormality of the systemic arterial tree"} {"id":"HP:0011005","name":"Mixed cirrhosis"} {"id":"HP:0011006","name":"Abnormality of the musculature of the neck"} {"id":"HP:0011012","name":"Abnormality of polysaccharide metabolism"} {"id":"HP:0011013","name":"Abnormality of carbohydrate metabolism/homeostasis"} {"id":"HP:0011014","name":"Abnormal glucose homeostasis"} {"id":"HP:0011015","name":"Abnormality of blood glucose concentration"} {"id":"HP:0011016","name":"Abnormality of urine glucose concentration"} {"id":"HP:0011017","name":"Abnormality of cell physiology"} {"id":"HP:0011018","name":"Abnormality of the cell cycle"} {"id":"HP:0011019","name":"Abnormality of chromosome condensation"} {"id":"HP:0011020","name":"Abnormality of mucopolysaccharide metabolism"} {"id":"HP:0011021","name":"Abnormality of circulating enzyme level"} {"id":"HP:0011022","name":"Abnormality of unsaturated fatty acid metabolism"} {"id":"HP:0011023","name":"Abnormality of prostaglandin metabolism"} {"id":"HP:0011024","name":"Abnormality of the gastrointestinal tract"} {"id":"HP:0011025","name":"Abnormality of cardiovascular system physiology"} {"id":"HP:0011026","name":"Aplasia/Hypoplasia of the vagina"} {"id":"HP:0011027","name":"Abnormality of the fallopian tube"} {"id":"HP:0011028","name":"Abnormality of blood circulation"} {"id":"HP:0011029","name":"Internal hemorrhage"} {"id":"HP:0011030","name":"Abnormality of transition element cation homeostasis"} {"id":"HP:0011031","name":"Abnormality of iron homeostasis"} {"id":"HP:0011032","name":"Abnormality of fluid regulation"} {"id":"HP:0011033","name":"Impairment of fructose metabolism"} {"id":"HP:0011034","name":"Amyloidosis"} {"id":"HP:0011035","name":"Abnormality of the renal cortex"} {"id":"HP:0011036","name":"Abnormality of renal excretion"} {"id":"HP:0011037","name":"Decreased urine output"} {"id":"HP:0011038","name":"Abnormality of renal resorption"} {"id":"HP:0011039","name":"Abnormality of the helix"} {"id":"HP:0011040","name":"Abnormality of the intrahepatic bile duct"} {"id":"HP:0011041","name":"Aplasia/Hypoplasia of the cervical spine"} {"id":"HP:0011042","name":"Abnormality of potassium homeostasis"} {"id":"HP:0011043","name":"Abnormality of circulating adrenocorticotropin level"} {"id":"HP:0011044","name":"Abnormal number of permanent teeth"} {"id":"HP:0011045","name":"Agenesis of permanent maxillary central incisor"} {"id":"HP:0011046","name":"Agenesis of primary maxillary central incisor"} {"id":"HP:0011047","name":"Agenesis of primary mandibular central incisor"} {"id":"HP:0011048","name":"Agenesis of permanent mandibular central incisor"} {"id":"HP:0011049","name":"Agenesis of primary maxillary lateral incisor"} {"id":"HP:0011050","name":"Agenesis of permanent maxillary lateral incisor"} {"id":"HP:0011051","name":"Agenesis of premolar"} {"id":"HP:0011052","name":"Agenesis of maxillary premolar"} {"id":"HP:0011053","name":"Agenesis of mandibular premolar"} {"id":"HP:0011054","name":"Agenesis of molar"} {"id":"HP:0011055","name":"Agenesis of permanent molar"} {"id":"HP:0011056","name":"Agenesis of first permanent molar tooth"} {"id":"HP:0011057","name":"Agenesis of second permanent molar"} {"id":"HP:0011058","name":"Generalized periodontitis"} {"id":"HP:0011059","name":"Localized periodontitis"} {"id":"HP:0011060","name":"Dentinogenesis imperfecta limited to primary teeth"} {"id":"HP:0011061","name":"Abnormality of dental structure"} {"id":"HP:0011062","name":"Misalignment of incisors"} {"id":"HP:0011063","name":"Abnormality of incisor morphology"} {"id":"HP:0011064","name":"Abnormal number of incisors"} {"id":"HP:0011065","name":"Conical incisor"} {"id":"HP:0011067","name":"Mesiodens"} {"id":"HP:0011068","name":"Odontoma"} {"id":"HP:0011069","name":"Increased number of teeth"} {"id":"HP:0011070","name":"Abnormality of molar morphology"} {"id":"HP:0011071","name":"Abnormality of permanent molar morphology"} {"id":"HP:0011072","name":"Rootless teeth"} {"id":"HP:0011073","name":"Abnormality of dental color"} {"id":"HP:0011074","name":"Localized hypoplasia of dental enamel"} {"id":"HP:0011075","name":"Green teeth"} {"id":"HP:0011076","name":"Abnormality of premolar"} {"id":"HP:0011077","name":"Abnormality of molar"} {"id":"HP:0011078","name":"Abnormality of canine"} {"id":"HP:0011079","name":"Impacted tooth"} {"id":"HP:0011080","name":"Abnormality of premolar morphology"} {"id":"HP:0011081","name":"Incisor macrodontia"} {"id":"HP:0011082","name":"Conical primary incisor"} {"id":"HP:0011083","name":"Conical maxillary incisor"} {"id":"HP:0011084","name":"Hypocalcification of dental enamel"} {"id":"HP:0011085","name":"Hypomature dental enamel"} {"id":"HP:0011086","name":"Dentinogenesis imperfecta of primary and permanent teeth"} {"id":"HP:0011087","name":"Talon cusp"} {"id":"HP:0011088","name":"Dens in dente"} {"id":"HP:0011089","name":"Double tooth"} {"id":"HP:0011090","name":"Fused teeth"} {"id":"HP:0011091","name":"Gemination"} {"id":"HP:0011092","name":"Mulberry molar"} {"id":"HP:0011093","name":"Molarization of premolar"} {"id":"HP:0011094","name":"Overbite"} {"id":"HP:0011095","name":"Overjet"} {"id":"HP:0011096","name":"Peripheral demyelination"} {"id":"HP:0011097","name":"Epileptic spasms"} {"id":"HP:0011098","name":"Speech apraxia"} {"id":"HP:0011099","name":"Spastic hemiparesis"} {"id":"HP:0011100","name":"Intestinal atresia"} {"id":"HP:0011102","name":"Ileal atresia"} {"id":"HP:0011103","name":"Abnormality of the left ventricular outflow tract"} {"id":"HP:0011104","name":"Abnormality of blood volume homeostasis"} {"id":"HP:0011105","name":"Hypervolemia"} {"id":"HP:0011106","name":"Hypovolemia"} {"id":"HP:0011107","name":"Recurrent aphthous stomatitis"} {"id":"HP:0011108","name":"Recurrent sinusitis"} {"id":"HP:0011109","name":"Chronic sinusitis"} {"id":"HP:0011110","name":"Tonsillitis"} {"id":"HP:0011111","name":"Abnormality of immune serum protein physiology"} {"id":"HP:0011112","name":"Abnormality of serum cytokine level"} {"id":"HP:0011113","name":"Abnormality of cytokine secretion"} {"id":"HP:0011114","name":"Defective production of NFKB1-dependent cytokines"} {"id":"HP:0011115","name":"Abnormality of chemokine secretion"} {"id":"HP:0011116","name":"Abnormality of interferon secretion"} {"id":"HP:0011117","name":"Abnormality of interleukin secretion"} {"id":"HP:0011118","name":"Abnormality of tumor necrosis factor secretion"} {"id":"HP:0011119","name":"Abnormality of the nasal dorsum"} {"id":"HP:0011120","name":"Concave nasal ridge"} {"id":"HP:0011121","name":"Abnormality of skin morphology"} {"id":"HP:0011122","name":"Abnormality of skin physiology"} {"id":"HP:0011123","name":"Inflammatory abnormality of the skin"} {"id":"HP:0011124","name":"Abnormality of epidermal morphology"} {"id":"HP:0011125","name":"Abnormality of dermal melanosomes"} {"id":"HP:0011126","name":"Nephroptosis"} {"id":"HP:0011127","name":"Perioral eczema"} {"id":"HP:0011128","name":"Acute esophageal necrosis"} {"id":"HP:0011129","name":"Bilateral fetal pyelectasis"} {"id":"HP:0011130","name":"Abnormality of renal calyx morphology"} {"id":"HP:0011131","name":"Perianal rash"} {"id":"HP:0011132","name":"Chronic furunculosis"} {"id":"HP:0011133","name":"Increased sensitivity to ionizing radiation"} {"id":"HP:0011134","name":"Low-grade fever"} {"id":"HP:0011135","name":"Aplasia/Hypoplasia of the sweat glands"} {"id":"HP:0011136","name":"Aplasia of the sweat glands"} {"id":"HP:0011137","name":"Non-pruritic urticaria"} {"id":"HP:0011138","name":"Abnormality of skin adnexa"} {"id":"HP:0011139","name":"Gastric duplication"} {"id":"HP:0011140","name":"Gastrointestinal duplication"} {"id":"HP:0011141","name":"Age-related cataract"} {"id":"HP:0011142","name":"Age-related nuclear cataract"} {"id":"HP:0011143","name":"Age-related cortical cataract"} {"id":"HP:0011144","name":"Age-related posterior subcapsular cataract"} {"id":"HP:0011145","name":"Symptomatic seizures"} {"id":"HP:0011146","name":"Dialeptic seizures"} {"id":"HP:0011147","name":"Typical absence seizures"} {"id":"HP:0011148","name":"Absence seizures with special features"} {"id":"HP:0011149","name":"Absence seizures with eyelid myoclonia"} {"id":"HP:0011150","name":"Myoclonic absences"} {"id":"HP:0011151","name":"Obtundation status"} {"id":"HP:0011152","name":"Early onset absence seizures"} {"id":"HP:0011153","name":"Focal motor seizures"} {"id":"HP:0011154","name":"Focal autonomic seizures"} {"id":"HP:0011155","name":"Focal autonomic seizures with altered responsiveness"} {"id":"HP:0011156","name":"Focal autonomic seizures without altered responsiveness"} {"id":"HP:0011157","name":"Auras"} {"id":"HP:0011158","name":"Auditory auras"} {"id":"HP:0011159","name":"Epigastric auras"} {"id":"HP:0011160","name":"Gustatory auras"} {"id":"HP:0011161","name":"Olfactory Auras"} {"id":"HP:0011162","name":"Psychic auras"} {"id":"HP:0011163","name":"Somatosensory auras"} {"id":"HP:0011164","name":"Vegetative auras"} {"id":"HP:0011165","name":"Visual auras"} {"id":"HP:0011166","name":"Focal myoclonic seizures"} {"id":"HP:0011167","name":"Focal tonic seizures"} {"id":"HP:0011168","name":"Eyelid myoclonias"} {"id":"HP:0011169","name":"Generalized clonic seizures"} {"id":"HP:0011170","name":"Myoclonic atonic seizures"} {"id":"HP:0011171","name":"Simple febrile seizures"} {"id":"HP:0011172","name":"Complex febrile seizures"} {"id":"HP:0011173","name":"Hypokinetic seizures"} {"id":"HP:0011174","name":"Hyperkinetic seizures"} {"id":"HP:0011175","name":"Versive seizures"} {"id":"HP:0011176","name":"EEG with constitutional variants"} {"id":"HP:0011177","name":"EEG with 4-5/second background activity"} {"id":"HP:0011178","name":"Alpha-EEG"} {"id":"HP:0011179","name":"Beta-EEG"} {"id":"HP:0011180","name":"Partial beta-EEG"} {"id":"HP:0011181","name":"Low voltage EEG"} {"id":"HP:0011182","name":"Epileptiform EEG discharges"} {"id":"HP:0011183","name":"EEG with hyperventilation-induced focal epileptiform discharges"} {"id":"HP:0011184","name":"EEG with hyperventilation-induced generalized epileptiform discharges"} {"id":"HP:0011185","name":"EEG with focal epileptiform discharges"} {"id":"HP:0011186","name":"Focal epileptiform discharges with limited propagation to contralateral hemisphere"} {"id":"HP:0011187","name":"Focal EEG discharges with propagation to ipsilateral hemisphere"} {"id":"HP:0011188","name":"Focal EEG discharges with secondary generalization"} {"id":"HP:0011189","name":"Bilateral multifocal epileptiform discharges"} {"id":"HP:0011190","name":"Uni- and bilateral multifocal epileptiform discharges"} {"id":"HP:0011191","name":"Unilateral multifocal epileptiform discharges"} {"id":"HP:0011192","name":"Polymorphic focal epileptiform discharges"} {"id":"HP:0011193","name":"EEG with focal spikes"} {"id":"HP:0011194","name":"EEG with series of focal spikes"} {"id":"HP:0011195","name":"EEG with focal sharp slow waves"} {"id":"HP:0011196","name":"EEG with focal sharp waves"} {"id":"HP:0011197","name":"EEG with focal spike waves"} {"id":"HP:0011198","name":"EEG with generalized epileptiform discharges"} {"id":"HP:0011199","name":"EEG with generalized sharp slow waves"} {"id":"HP:0011200","name":"EEG with generalized polymorphic epileptiform discharges"} {"id":"HP:0011201","name":"EEG with changes in voltage"} {"id":"HP:0011202","name":"EEG with diffuse acceleration"} {"id":"HP:0011203","name":"EEG with abnormally slow frequencies"} {"id":"HP:0011204","name":"EEG with continuous slow activity"} {"id":"HP:0011205","name":"EEG with intermittent slow activity"} {"id":"HP:0011206","name":"EEG with generalized slow activity grade 1"} {"id":"HP:0011207","name":"EEG with generalized slow activity grade 2"} {"id":"HP:0011208","name":"EEG with generalized slow activity grade 3"} {"id":"HP:0011209","name":"EEG with generalized slow activity grade 4"} {"id":"HP:0011210","name":"EEG with occipital slowing"} {"id":"HP:0011211","name":"EEG with photoparoxysmal response grade I"} {"id":"HP:0011212","name":"EEG with photoparoxysmal response grade II"} {"id":"HP:0011213","name":"EEG with photoparoxysmal response grade III"} {"id":"HP:0011214","name":"EEG with photoparoxysmal response grade IV"} {"id":"HP:0011215","name":"Hemihypsarrhythmia"} {"id":"HP:0011217","name":"Abnormal shape of the occiput"} {"id":"HP:0011218","name":"Abnormal shape of the frontal region"} {"id":"HP:0011219","name":"Short face"} {"id":"HP:0011220","name":"Prominent forehead"} {"id":"HP:0011221","name":"Vertical forehead creases"} {"id":"HP:0011222","name":"Depressed glabella"} {"id":"HP:0011223","name":"Metopic depression"} {"id":"HP:0011224","name":"Ablepharon"} {"id":"HP:0011225","name":"Epiblepharon"} {"id":"HP:0011226","name":"Aplasia/Hypoplasia affecting the eyelid"} {"id":"HP:0011227","name":"Elevated C-reactive protein level"} {"id":"HP:0011228","name":"Horizontal eyebrow"} {"id":"HP:0011229","name":"Broad eyebrow"} {"id":"HP:0011230","name":"Laterally extended eyebrow"} {"id":"HP:0011231","name":"Prominent eyelashes"} {"id":"HP:0011232","name":"Infra-orbital fold"} {"id":"HP:0011233","name":"Antihelical shelf"} {"id":"HP:0011234","name":"Absent antihelix"} {"id":"HP:0011235","name":"Additional crus of antihelix"} {"id":"HP:0011236","name":"Angulated antihelix"} {"id":"HP:0011237","name":"Broad inferior crus of antihelix"} {"id":"HP:0011238","name":"Prominent inferior crus of antihelix"} {"id":"HP:0011239","name":"Underdeveloped inferior crus of antihelix"} {"id":"HP:0011240","name":"Prominent stem of antihelix"} {"id":"HP:0011241","name":"Serpiginous stem of antihelix"} {"id":"HP:0011242","name":"Underdeveloped stem of antihelix"} {"id":"HP:0011243","name":"Abnormality of inferior crus of antihelix"} {"id":"HP:0011244","name":"Abnormality of stem of antihelix"} {"id":"HP:0011245","name":"Abnormality of superior crus of antihelix"} {"id":"HP:0011246","name":"Underdeveloped superior crus of antihelix"} {"id":"HP:0011247","name":"Prominent superior crus of antihelix"} {"id":"HP:0011248","name":"Everted antitragus"} {"id":"HP:0011249","name":"Absent antitragus"} {"id":"HP:0011250","name":"Bifid antitragus"} {"id":"HP:0011251","name":"Underdeveloped antitragus"} {"id":"HP:0011252","name":"Cryptotia"} {"id":"HP:0011253","name":"Type I cryptotia"} {"id":"HP:0011254","name":"Type II cryptotia"} {"id":"HP:0011255","name":"Absent crus of helix"} {"id":"HP:0011256","name":"Crus of helix connected to antihelix"} {"id":"HP:0011257","name":"Serpiginous crus of helix"} {"id":"HP:0011258","name":"Tragal bridge of crus of helix"} {"id":"HP:0011259","name":"Expanded terminal portion of crus of helix"} {"id":"HP:0011260","name":"Darwin notch of helix"} {"id":"HP:0011261","name":"Darwin tubercle of helix"} {"id":"HP:0011262","name":"Crimped helix"} {"id":"HP:0011263","name":"Forward facing earlobe"} {"id":"HP:0011264","name":"Discontinuous ascending root of helix"} {"id":"HP:0011265","name":"Cleft earlobe"} {"id":"HP:0011266","name":"Microtia, first degree"} {"id":"HP:0011267","name":"Microtia, third degree"} {"id":"HP:0011268","name":"Absent tragus"} {"id":"HP:0011269","name":"Bifid tragus"} {"id":"HP:0011270","name":"Duplicated tragus"} {"id":"HP:0011271","name":"Prominent tragus"} {"id":"HP:0011272","name":"Underdeveloped tragus"} {"id":"HP:0011273","name":"Anisocytosis"} {"id":"HP:0011274","name":"Recurrent mycobacterial infections"} {"id":"HP:0011275","name":"Recurrent mycobacterium avium complex infections"} {"id":"HP:0011276","name":"Vascular skin abnormality"} {"id":"HP:0011277","name":"Abnormality of the urinary system physiology"} {"id":"HP:0011278","name":"Intrapulmonary sequestration"} {"id":"HP:0011279","name":"Abnormality of urine bicarbonate concentration"} {"id":"HP:0011280","name":"Abnormality of urine calcium concentration"} {"id":"HP:0011281","name":"Abnormality of urine catecholamine concentration"} {"id":"HP:0011282","name":"Abnormality of hindbrain morphology"} {"id":"HP:0011283","name":"Abnormality of the metencephalon"} {"id":"HP:0011284","name":"Short-segment aganglionic megacolon"} {"id":"HP:0011285","name":"Long-segment aganglionic megacolon"} {"id":"HP:0011286","name":"Total colonic aganglionosis"} {"id":"HP:0011287","name":"EEG with occipital sharp slow waves"} {"id":"HP:0011288","name":"EEG with parietal sharp slow waves"} {"id":"HP:0011289","name":"EEG with temporal sharp slow waves"} {"id":"HP:0011290","name":"EEG with frontal sharp slow waves"} {"id":"HP:0011291","name":"EEG with central sharp slow waves"} {"id":"HP:0011292","name":"EEG with occipital sharp waves"} {"id":"HP:0011293","name":"EEG with central sharp waves"} {"id":"HP:0011294","name":"EEG with frontal sharp waves"} {"id":"HP:0011295","name":"EEG with parietal sharp waves"} {"id":"HP:0011296","name":"EEG with temporal sharp waves"} {"id":"HP:0011297","name":"Abnormality of digit"} {"id":"HP:0011298","name":"Prominent digit pad"} {"id":"HP:0011299","name":"Partial absence of finger"} {"id":"HP:0011300","name":"Broad fingertip"} {"id":"HP:0011301","name":"Absent foot"} {"id":"HP:0011302","name":"Long palm"} {"id":"HP:0011303","name":"Convex contour of sole"} {"id":"HP:0011304","name":"Broad thumb"} {"id":"HP:0011305","name":"Partial absence of toe"} {"id":"HP:0011307","name":"Splayed toes"} {"id":"HP:0011308","name":"Slender toe"} {"id":"HP:0011309","name":"Tapered toe"} {"id":"HP:0011310","name":"Bridged palmar crease"} {"id":"HP:0011311","name":"Sydney crease"} {"id":"HP:0011312","name":"Fused nails"} {"id":"HP:0011313","name":"Narrow nail"} {"id":"HP:0011314","name":"Abnormality of long bone morphology"} {"id":"HP:0011315","name":"Unicoronal synostosis"} {"id":"HP:0011316","name":"Left unicoronal synostosis"} {"id":"HP:0011317","name":"Right unicoronal synostosis"} {"id":"HP:0011318","name":"Bicoronal synostosis"} {"id":"HP:0011319","name":"Bilambdoid synostosis"} {"id":"HP:0011320","name":"Unilambdoid synostosis"} {"id":"HP:0011321","name":"Left unilambdoid synostosis"} {"id":"HP:0011322","name":"Right unilambdoid synostosis"} {"id":"HP:0011323","name":"Cleft of chin"} {"id":"HP:0011324","name":"Multiple suture craniosynostosis"} {"id":"HP:0011325","name":"Pansynostosis"} {"id":"HP:0011326","name":"Anterior plagiocephaly"} {"id":"HP:0011327","name":"Posterior plagiocephaly"} {"id":"HP:0011328","name":"Abnormality of fontanelles"} {"id":"HP:0011329","name":"Abnormality of cranial sutures"} {"id":"HP:0011330","name":"Metopic synostosis"} {"id":"HP:0011331","name":"Hemifacial atrophy"} {"id":"HP:0011332","name":"Hemifacial hypoplasia"} {"id":"HP:0011333","name":"Asymmetric crying face"} {"id":"HP:0011334","name":"Facial shape deformation"} {"id":"HP:0011335","name":"Frontal hirsutism"} {"id":"HP:0011336","name":"Bitemporal forceps marks"} {"id":"HP:0011337","name":"Abnormality of mouth size"} {"id":"HP:0011338","name":"Abnormality of mouth shape"} {"id":"HP:0011339","name":"Abnormality of upper lip vermillion"} {"id":"HP:0011340","name":"Incomplete cleft of the upper lip"} {"id":"HP:0011341","name":"Long upper lip"} {"id":"HP:0011342","name":"Mild global developmental delay"} {"id":"HP:0011343","name":"Moderate global developmental delay"} {"id":"HP:0011344","name":"Severe global developmental delay"} {"id":"HP:0011345","name":"Moderate expressive language delay"} {"id":"HP:0011346","name":"Mild expressive language delay"} {"id":"HP:0011347","name":"Abnormality of ocular abduction"} {"id":"HP:0011348","name":"Abnormality of the sixth cranial nerve"} {"id":"HP:0011349","name":"Abducens palsy"} {"id":"HP:0011350","name":"Mild receptive language delay"} {"id":"HP:0011351","name":"Moderate receptive language delay"} {"id":"HP:0011352","name":"Severe receptive language delay"} {"id":"HP:0011353","name":"Arterial intimal fibrosis"} {"id":"HP:0011354","name":"Generalized abnormality of skin"} {"id":"HP:0011355","name":"Localized skin lesion"} {"id":"HP:0011356","name":"Regional abnormality of skin"} {"id":"HP:0011357","name":"Abnormality of hair density"} {"id":"HP:0011358","name":"Generalized hypopigmentation of hair"} {"id":"HP:0011359","name":"Dry hair"} {"id":"HP:0011360","name":"Acquired abnormal hair pattern"} {"id":"HP:0011361","name":"Congenital abnormal hair pattern"} {"id":"HP:0011362","name":"Abnormal hair quantity"} {"id":"HP:0011363","name":"Abnormality of hair growth rate"} {"id":"HP:0011364","name":"White hair"} {"id":"HP:0011365","name":"Patchy hypopigmentation of hair"} {"id":"HP:0011367","name":"Yellow nails"} {"id":"HP:0011368","name":"Epidermal thickening"} {"id":"HP:0011369","name":"Mongolian blue spot"} {"id":"HP:0011370","name":"Recurrent cutaneous fungal infections"} {"id":"HP:0011371","name":"Recurrent viral skin infections"} {"id":"HP:0011372","name":"Aplasia of the inner ear"} {"id":"HP:0011373","name":"Incomplete partition of the cochlea"} {"id":"HP:0011374","name":"Incomplete partition of the cochlea type I"} {"id":"HP:0011375","name":"Cochlear aplasia"} {"id":"HP:0011376","name":"Morphological abnormality of the vestibule of the inner ear"} {"id":"HP:0011377","name":"Aplasia of the vestibule"} {"id":"HP:0011378","name":"Hypoplasia of the vestibule of the inner ear"} {"id":"HP:0011379","name":"Dilated vestibule of the inner ear"} {"id":"HP:0011380","name":"Morphological abnormality of the semicircular canal"} {"id":"HP:0011381","name":"Aplasia of the semicircular canal"} {"id":"HP:0011382","name":"Hypoplasia of the semicircular canal"} {"id":"HP:0011383","name":"Enlarged semicircular canal"} {"id":"HP:0011384","name":"Abnormality of the internal auditory canal"} {"id":"HP:0011385","name":"Absent internal auditory canal"} {"id":"HP:0011386","name":"Narrow internal auditory canal"} {"id":"HP:0011387","name":"Enlarged vestibular aqueduct"} {"id":"HP:0011388","name":"Enlarged cochlear aqueduct"} {"id":"HP:0011389","name":"Functional abnormality of the inner ear"} {"id":"HP:0011390","name":"Morphological abnormality of the inner ear"} {"id":"HP:0011391","name":"Morphological abnormality of the nerves of the inner ear"} {"id":"HP:0011392","name":"Abnormality of the vestibular nerve"} {"id":"HP:0011393","name":"Aplasia of the vestibular nerve."} {"id":"HP:0011394","name":"Hypoplasia of the vestibular nerve"} {"id":"HP:0011395","name":"Aplasia/Hypoplasia of the cochlea"} {"id":"HP:0011396","name":"Abnormality of the cochlear nerve"} {"id":"HP:0011397","name":"Abnormality of the dorsal column of the spinal cord"} {"id":"HP:0011398","name":"Central hypotonia"} {"id":"HP:0011399","name":"Tibialis atrophy"} {"id":"HP:0011400","name":"Abnormal CNS myelination"} {"id":"HP:0011401","name":"Delayed peripheral myelination"} {"id":"HP:0011402","name":"Demyelinating sensory neuropathy"} {"id":"HP:0011403","name":"Abnormal umbilical cord blood vessels"} {"id":"HP:0011404","name":"Lethal short-trunk short stature"} {"id":"HP:0011405","name":"Childhood onset short-limb short stature"} {"id":"HP:0011406","name":"Infancy onset short-trunk short stature"} {"id":"HP:0011407","name":"Proportionate tall stature"} {"id":"HP:0011408","name":"Moderate intrauterine growth retardation"} {"id":"HP:0011409","name":"Abnormality of placental membranes"} {"id":"HP:0011410","name":"Caesarian section"} {"id":"HP:0011411","name":"Forceps delivery"} {"id":"HP:0011412","name":"Ventouse delivery"} {"id":"HP:0011413","name":"Shoulder dystocia"} {"id":"HP:0011414","name":"Hydropic placenta"} {"id":"HP:0011415","name":"Calcified placenta"} {"id":"HP:0011416","name":"Placental infarction"} {"id":"HP:0011417","name":"Long umbilical cord"} {"id":"HP:0011418","name":"Abnormal insertion of umbilical cord"} {"id":"HP:0011419","name":"Placental abruption"} {"id":"HP:0011422","name":"Abnormality of chloride homeostasis"} {"id":"HP:0011423","name":"Hyperchloremia"} {"id":"HP:0011424","name":"Increased serum zinc"} {"id":"HP:0011425","name":"Fetal ultrasound soft marker"} {"id":"HP:0011426","name":"Fetal choroid plexus cysts"} {"id":"HP:0011427","name":"Enlarged fetal cisterna magna"} {"id":"HP:0011428","name":"Short fetal femur length"} {"id":"HP:0011429","name":"Short fetal humerus length"} {"id":"HP:0011430","name":"Hypoplasia of fetal nasal bone"} {"id":"HP:0011431","name":"Fetal fifth finger clinodactyly"} {"id":"HP:0011432","name":"High maternal serum alpha-fetoprotein"} {"id":"HP:0011433","name":"High maternal serum chorionic gonadotropin"} {"id":"HP:0011434","name":"Low maternal serum chorionic gonadotropin"} {"id":"HP:0011435","name":"Low maternal serum PAPP-A"} {"id":"HP:0011436","name":"Abnormal maternal serum screening"} {"id":"HP:0011437","name":"Maternal autoimmune disease"} {"id":"HP:0011438","name":"Maternal teratogenic exposure"} {"id":"HP:0011439","name":"Anesthetic-induced rhabdomylosis"} {"id":"HP:0011440","name":"Alcohol-induced rhabdomyolysis"} {"id":"HP:0011441","name":"Abnormality of the medulla oblongata"} {"id":"HP:0011442","name":"Abnormality of central motor function"} {"id":"HP:0011443","name":"Abnormality of coordination"} {"id":"HP:0011444","name":"Decorticate rigidity"} {"id":"HP:0011445","name":"Athetoid cerebral palsy"} {"id":"HP:0011446","name":"Abnormality of higher mental function"} {"id":"HP:0011447","name":"Hyposegmentation of neutrophil nuclei"} {"id":"HP:0011448","name":"Ankle clonus"} {"id":"HP:0011449","name":"Knee clonus"} {"id":"HP:0011450","name":"CNS infection"} {"id":"HP:0011451","name":"Congenital microcephaly"} {"id":"HP:0011452","name":"Functional abnormality of the middle ear"} {"id":"HP:0011453","name":"Abnormality of the incus"} {"id":"HP:0011454","name":"Abnormality of the malleus"} {"id":"HP:0011455","name":"Absent malleus"} {"id":"HP:0011456","name":"Absent stapes"} {"id":"HP:0011457","name":"Loss of eyelashes"} {"id":"HP:0011458","name":"Abdominal symptom"} {"id":"HP:0011459","name":"Esophageal carcinoma"} {"id":"HP:0011464","name":"Aganglionosis of the small intestine"} {"id":"HP:0011465","name":"Duodenal aganglionosis"} {"id":"HP:0011466","name":"Aplasia/Hypoplasia of the gallbladder"} {"id":"HP:0011467","name":"Absent gallbladder"} {"id":"HP:0011468","name":"Facial tics"} {"id":"HP:0011469","name":"Nasal regurgitation"} {"id":"HP:0011470","name":"Nasogastric tube feeding in infancy"} {"id":"HP:0011471","name":"Gastrostomy tube feeding in infancy"} {"id":"HP:0011472","name":"Abnormality of small intestinal villus morphology"} {"id":"HP:0011473","name":"Villous atrophy"} {"id":"HP:0011474","name":"Childhood onset sensorineural hearing impairment"} {"id":"HP:0011475","name":"Persistent stapedial artery"} {"id":"HP:0011476","name":"Profound sensorineural hearing impairment"} {"id":"HP:0011477","name":"Upbeat nystagmus"} {"id":"HP:0011478","name":"True anophthalmia"} {"id":"HP:0011479","name":"Abnormality of the lacrimal punctum"} {"id":"HP:0011480","name":"Unilateral microphthalmos"} {"id":"HP:0011481","name":"Abnormality of the lacrimal duct"} {"id":"HP:0011482","name":"Abnormality of the lacrimal gland"} {"id":"HP:0011483","name":"Anterior synechiae of the anterior chamber"} {"id":"HP:0011484","name":"Posterior synechiae of the anterior chamber"} {"id":"HP:0011485","name":"Corneolenticular adhesion"} {"id":"HP:0011486","name":"Abnormality of corneal thickness"} {"id":"HP:0011487","name":"Increased corneal thickness"} {"id":"HP:0011488","name":"Abnormality of corneal endothelium"} {"id":"HP:0011489","name":"Abnormal migration of corneal endothelium"} {"id":"HP:0011490","name":"Abnormality of Descemet's membrane"} {"id":"HP:0011491","name":"Reduced number of corneal endothelial cells"} {"id":"HP:0011492","name":"Abnormality of corneal stroma"} {"id":"HP:0011493","name":"Central opacification of the cornea"} {"id":"HP:0011494","name":"Generalized opacification of the cornea"} {"id":"HP:0011495","name":"Abnormality of corneal epithelium"} {"id":"HP:0011496","name":"Corneal neovascularization"} {"id":"HP:0011497","name":"Iris neovascularization"} {"id":"HP:0011498","name":"Partial aniridia"} {"id":"HP:0011499","name":"Mydriasis"} {"id":"HP:0011500","name":"Polycoria"} {"id":"HP:0011501","name":"Anterior lenticonus"} {"id":"HP:0011502","name":"Posterior lenticonus"} {"id":"HP:0011503","name":"Aplasia of the fovea"} {"id":"HP:0011504","name":"Bull's eye maculopathy"} {"id":"HP:0011505","name":"Cystoid macular edema"} {"id":"HP:0011506","name":"Choroidal neovascularization of the macula"} {"id":"HP:0011507","name":"Macular flecks"} {"id":"HP:0011508","name":"Macular hole"} {"id":"HP:0011509","name":"Macular hyperpigmentation"} {"id":"HP:0011510","name":"Drusen"} {"id":"HP:0011511","name":"Macular schisis"} {"id":"HP:0011512","name":"Hyperpigmentation of the fundus"} {"id":"HP:0011513","name":"Retinal cavernous angioma"} {"id":"HP:0011514","name":"Abnormality of binocular vision"} {"id":"HP:0011515","name":"Abnormal stereopsis"} {"id":"HP:0011516","name":"Rod monochromacy"} {"id":"HP:0011517","name":"Cone monochromacy"} {"id":"HP:0011518","name":"Dichromacy"} {"id":"HP:0011519","name":"Anomalous trichromacy"} {"id":"HP:0011520","name":"Deuteranomoly"} {"id":"HP:0011521","name":"Deuteranopia"} {"id":"HP:0011522","name":"Protanopia"} {"id":"HP:0011523","name":"Iris cyst"} {"id":"HP:0011524","name":"Iris melanoma"} {"id":"HP:0011525","name":"Iris nevus"} {"id":"HP:0011526","name":"Abnormality of lens shape"} {"id":"HP:0011527","name":"Lentiglobus"} {"id":"HP:0011528","name":"Single isolated congenital hypertrophy of retinal pigment epithelium"} {"id":"HP:0011529","name":"Multiple bilateral congenital hypertrophy of retinal pigment epithelium"} {"id":"HP:0011530","name":"Retinal hole"} {"id":"HP:0011531","name":"Vitreitis"} {"id":"HP:0011532","name":"Subretinal exudate"} {"id":"HP:0011533","name":"Snowflake retinal degeneration"} {"id":"HP:0011534","name":"Abnormal spatial orientation of the cardiac segments"} {"id":"HP:0011535","name":"Abnormal atrial arrangement"} {"id":"HP:0011536","name":"Right atrial isomerism"} {"id":"HP:0011537","name":"Left atrial isomerism"} {"id":"HP:0011538","name":"Atrial situs inversus"} {"id":"HP:0011539","name":"Atrial situs ambiguous"} {"id":"HP:0011540","name":"Congenitally corrected transposition of the great arteries"} {"id":"HP:0011541","name":"Criss-cross atrioventricular valves"} {"id":"HP:0011542","name":"Criss-cross atrioventricular valves with superior-inferior ventricles"} {"id":"HP:0011543","name":"Superior-inferior ventricles without criss-cross atrioventricular valves"} {"id":"HP:0011544","name":"L-looping of the right ventricle"} {"id":"HP:0011545","name":"Abnormal connection of the cardiac segments"} {"id":"HP:0011546","name":"Abnormal atrioventricular connection"} {"id":"HP:0011547","name":"Absent left sided atrioventricular connection"} {"id":"HP:0011548","name":"Absent right sided atrioventricular connection"} {"id":"HP:0011549","name":"Univentricular heart with absent left sided atrioventricular connection"} {"id":"HP:0011550","name":"Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection"} {"id":"HP:0011551","name":"Right sided atrium to left ventricle and absent left sided atrioventricular connection"} {"id":"HP:0011552","name":"Ambiguous atrioventricular connection"} {"id":"HP:0011553","name":"Discordant atrioventricular connection"} {"id":"HP:0011554","name":"Double inlet atrioventricular connection"} {"id":"HP:0011555","name":"Double inlet left ventricle"} {"id":"HP:0011556","name":"Double inlet right ventricle"} {"id":"HP:0011557","name":"Double inlet to single ventricle of indeterminate morphology"} {"id":"HP:0011558","name":"Double inlet to single ventricle with common atrioventricular orifice"} {"id":"HP:0011559","name":"Double inlet to single ventricle with two atrioventricular valves"} {"id":"HP:0011560","name":"Mitral atresia"} {"id":"HP:0011561","name":"Overriding atrioventricular valve"} {"id":"HP:0011562","name":"Straddling atrioventricular valve"} {"id":"HP:0011563","name":"Abnormal ventriculo-arterial connection"} {"id":"HP:0011564","name":"Mitral valve arcade"} {"id":"HP:0011565","name":"Common atrium"} {"id":"HP:0011566","name":"Cor triatriatum dexter"} {"id":"HP:0011567","name":"Sinus venosus atrial septal defect"} {"id":"HP:0011568","name":"Double orifice mitral valve"} {"id":"HP:0011569","name":"Cleft anterior mitral valve leaflet"} {"id":"HP:0011570","name":"Congenital mitral stenosis"} {"id":"HP:0011571","name":"Parachute mitral valve"} {"id":"HP:0011572","name":"Supramitral ring"} {"id":"HP:0011573","name":"Hypoplastic tricuspid valve"} {"id":"HP:0011574","name":"Imperforate atrioventricular valve"} {"id":"HP:0011575","name":"Imperforate tricuspid valve"} {"id":"HP:0011576","name":"Intermediate atrioventricular canal defect"} {"id":"HP:0011577","name":"Partial atrioventricular canal defect"} {"id":"HP:0011578","name":"Transitional atrioventricular canal defect"} {"id":"HP:0011579","name":"Unbalanced atrioventricular canal defect"} {"id":"HP:0011580","name":"Short chordae tendineae of the mitral valve"} {"id":"HP:0011581","name":"Double outlet left ventricle"} {"id":"HP:0011582","name":"Abdominal ectopia cordis"} {"id":"HP:0011583","name":"Cervical ectopia cordis"} {"id":"HP:0011584","name":"Thoracocervical ectopia cordis"} {"id":"HP:0011585","name":"Thoracic ectopia cordis"} {"id":"HP:0011586","name":"Thoracoabdominal ectopia cordis"} {"id":"HP:0011587","name":"Abnormal branching pattern of the aortic arch"} {"id":"HP:0011588","name":"Cervical aortic arch"} {"id":"HP:0011589","name":"Common origin of the right brachiocephalic artery and left common carotid artery"} {"id":"HP:0011590","name":"Double aortic arch"} {"id":"HP:0011591","name":"Left aortic arch with cervical origin of the right subclavian artery"} {"id":"HP:0011592","name":"Left aortic arch with isolated subclavian artery"} {"id":"HP:0011593","name":"Left aortic arch with retroesophageal diverticulum of Kommerell"} {"id":"HP:0011594","name":"Right aortic arch with retroesophageal diverticulum of Kommerell"} {"id":"HP:0011595","name":"Left aortic arch with retroesophageal right subclavian artery"} {"id":"HP:0011596","name":"Left aortic arch with right descending aorta and right ductus arteriosus"} {"id":"HP:0011597","name":"Right aortic arch with left descending aorta and left ductus arteriosus"} {"id":"HP:0011598","name":"Right aortic arch with retroesophageal left subclavian artery"} {"id":"HP:0011599","name":"Mesocardia"} {"id":"HP:0011600","name":"Abnormal direction of ventricular apex"} {"id":"HP:0011601","name":"Rightward direction of ventricular apex"} {"id":"HP:0011602","name":"Midline direction of ventricular apex"} {"id":"HP:0011603","name":"Congenital malformation of the great arteries"} {"id":"HP:0011604","name":"Aortopulmonary window"} {"id":"HP:0011605","name":"Congenitally corrected transposition of the great arteries with ventricular septal defect"} {"id":"HP:0011606","name":"Transposition of the great arteries with intact ventricular septum"} {"id":"HP:0011607","name":"Transposition of the great arteries with ventricular septal defect"} {"id":"HP:0011608","name":"Type II truncus arteriosus"} {"id":"HP:0011609","name":"Type III truncus arteriosus"} {"id":"HP:0011610","name":"Type IV truncus arteriosus"} {"id":"HP:0011611","name":"Interrupted aortic arch"} {"id":"HP:0011612","name":"Interrupted aortic arch type A"} {"id":"HP:0011613","name":"Interrupted aortic arch type B"} {"id":"HP:0011614","name":"Interrupted aortic arch type C"} {"id":"HP:0011615","name":"Abnormality of pulmonary situs"} {"id":"HP:0011616","name":"Pulmonary situs inversus"} {"id":"HP:0011617","name":"Pulmonary situs ambiguus"} {"id":"HP:0011618","name":"Pulmonary situs ambiguus with bilateral morphologic right lungs"} {"id":"HP:0011619","name":"Pulmonary situs ambiguus with bilateral morphologic left lungs"} {"id":"HP:0011620","name":"Abnormality of abdominal situs"} {"id":"HP:0011621","name":"Gerbode ventricular septal defect"} {"id":"HP:0011622","name":"Inlet ventricular septal defect"} {"id":"HP:0011623","name":"Muscular ventricular septal defect"} {"id":"HP:0011624","name":"Apical muscular ventricular septal defect"} {"id":"HP:0011625","name":"Multiple muscular ventricular septal defects"} {"id":"HP:0011626","name":"Scimitar anomaly"} {"id":"HP:0011627","name":"Aorto-ventricular tunnel"} {"id":"HP:0011628","name":"Congenital defect of the pericardium"} {"id":"HP:0011629","name":"Total absence of the pericardium"} {"id":"HP:0011630","name":"Complete diaphragmatic absence of pericardium"} {"id":"HP:0011631","name":"Complete right sided absence of pericardium"} {"id":"HP:0011632","name":"Partial right sided absence of pericardium"} {"id":"HP:0011633","name":"Complete left sided absence of pericardium"} {"id":"HP:0011634","name":"Partial left sided absence of pericardium"} {"id":"HP:0011635","name":"Partial diaphragmatic absence of pericardium"} {"id":"HP:0011636","name":"Abnormal origin of the coronary arteries"} {"id":"HP:0011637","name":"Anomalous origin of coronary artery from the pulmonary artery"} {"id":"HP:0011638","name":"Anomalous origin of left coronary artery from the pulmonary artery"} {"id":"HP:0011639","name":"Anomalous origin of right coronary artery from the pulmonary artery"} {"id":"HP:0011640","name":"Single coronary artery origin"} {"id":"HP:0011641","name":"Coronary artery fistula"} {"id":"HP:0011642","name":"Abnormality of the coronary sinus"} {"id":"HP:0011643","name":"Coronary sinus atrial septal defect"} {"id":"HP:0011644","name":"Coronary sinus diverticulum"} {"id":"HP:0011645","name":"Sinus of Valsalva aneurysm"} {"id":"HP:0011646","name":"Juxtaductal coarctation of the aorta"} {"id":"HP:0011647","name":"Postductal coarctation of the aorta"} {"id":"HP:0011648","name":"Patent ductus arteriosus after birth at term"} {"id":"HP:0011649","name":"Patent ductus arteriosus after premature birth"} {"id":"HP:0011650","name":"Bilateral ductus arteriosus"} {"id":"HP:0011651","name":"Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis"} {"id":"HP:0011652","name":"Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis"} {"id":"HP:0011653","name":"Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis"} {"id":"HP:0011654","name":"Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis"} {"id":"HP:0011655","name":"Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis"} {"id":"HP:0011656","name":"Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis"} {"id":"HP:0011657","name":"Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis"} {"id":"HP:0011658","name":"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis"} {"id":"HP:0011659","name":"Tetralogy of Fallot with absent pulmonary valve"} {"id":"HP:0011660","name":"Anomalous origin of one pulmonary artery from ascending aorta"} {"id":"HP:0011661","name":"Anomalous origin of left pulmonary artery from ascending aorta"} {"id":"HP:0011662","name":"Tricuspid atresia"} {"id":"HP:0011663","name":"Right ventricular cardiomyopathy"} {"id":"HP:0011664","name":"Left ventricular noncompaction cardiomyopathy"} {"id":"HP:0011665","name":"Takotsubo cardiomyopathy"} {"id":"HP:0011666","name":"Absent right superior vena cava"} {"id":"HP:0011667","name":"Bilateral superior vena cava with bridging vein"} {"id":"HP:0011668","name":"Bilateral superior vena cava with no bridging vein"} {"id":"HP:0011669","name":"Left superior vena cava draining directly to the left atrium"} {"id":"HP:0011670","name":"Left superior vena cava draining to coronary sinus"} {"id":"HP:0011671","name":"Interrupted inferior vena cava with azygous continuation"} {"id":"HP:0011672","name":"Cardiac myxoma"} {"id":"HP:0011673","name":"Cardiac hemangioma"} {"id":"HP:0011674","name":"Cardiac teratoma"} {"id":"HP:0011675","name":"Arrhythmia"} {"id":"HP:0011676","name":"Tetralogy of Fallot with absent subarterial conus"} {"id":"HP:0011677","name":"Tetralogy of Fallot with atrioventricular canal defect"} {"id":"HP:0011678","name":"Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries"} {"id":"HP:0011679","name":"Tetralogy of Fallot with pulmonary stenosis"} {"id":"HP:0011680","name":"Single ventricle of indeterminate morphology"} {"id":"HP:0011681","name":"Subarterial ventricular septal defect"} {"id":"HP:0011682","name":"Perimembranous ventricular septal defect"} {"id":"HP:0011683","name":"Restrictive ventricular septal defect"} {"id":"HP:0011684","name":"Non-restrictive ventricular septal defect"} {"id":"HP:0011685","name":"Infra-aortic superior vena cava"} {"id":"HP:0011686","name":"Abnormal coronary artery course"} {"id":"HP:0011687","name":"AV nodal tachycardia"} {"id":"HP:0011688","name":"Supraventricular tachycardia with an accessory connection mediated pathway"} {"id":"HP:0011689","name":"Supraventricular tachycardia with a concealed accessory connection"} {"id":"HP:0011690","name":"Permanent junctional reciprocating tachycardia"} {"id":"HP:0011691","name":"Supraventricular tachycardia with a concealed accessory pathway on the left free wall"} {"id":"HP:0011692","name":"Supraventricular tachycardia with a concealed accessory pathway on the right free wall"} {"id":"HP:0011693","name":"Supraventricular tachycardia with a concealed accessory pathway on the septum"} {"id":"HP:0011694","name":"Supraventricular tachycardia with a manifest accessory pathway"} {"id":"HP:0011695","name":"Cerebellar hemorrhage"} {"id":"HP:0011696","name":"Supraventricular tachycardia with a manifest accessory pathway on the left free wall"} {"id":"HP:0011697","name":"Supraventricular tachycardia with a manifest accessory pathway on the right free wall"} {"id":"HP:0011698","name":"Supraventricular tachycardia with a manifest accessory pathway on the septum"} {"id":"HP:0011699","name":"Atrial reentry tachycardia"} {"id":"HP:0011700","name":"Automatic atrial tachycardia"} {"id":"HP:0011701","name":"Multifocal atrial tachycardia"} {"id":"HP:0011702","name":"Abnormal electrophysiology of sinoatrial node origin"} {"id":"HP:0011703","name":"Sinus tachycardia"} {"id":"HP:0011704","name":"Sick sinus syndrome"} {"id":"HP:0011705","name":"First degree atrioventricular block"} {"id":"HP:0011706","name":"Second degree atrioventricular block"} {"id":"HP:0011707","name":"Mobitz I atrioventricular block"} {"id":"HP:0011708","name":"Mobitz II atrioventricular block"} {"id":"HP:0011709","name":"Atrioventricular dissociation"} {"id":"HP:0011710","name":"Bundle branch block"} {"id":"HP:0011711","name":"Left anterior fascicular block"} {"id":"HP:0011712","name":"Right bundle branch block"} {"id":"HP:0011713","name":"Left bundle branch block"} {"id":"HP:0011714","name":"Libman-Sacks lesions"} {"id":"HP:0011715","name":"Trifascicular block"} {"id":"HP:0011716","name":"Junctional ectopic tachycardia"} {"id":"HP:0011717","name":"AV nodal reentry tachycardia"} {"id":"HP:0011718","name":"Abnormality of the pulmonary veins"} {"id":"HP:0011719","name":"Supracardiac total anomalous pulmonary venous connection"} {"id":"HP:0011720","name":"Cardiac total anomalous pulmonary venous connection"} {"id":"HP:0011721","name":"Infracardiac total anomalous pulmonary venous connection"} {"id":"HP:0011722","name":"Mixed total anomalous pulmonary venous connection"} {"id":"HP:0011723","name":"Congenital malformation of the right heart"} {"id":"HP:0011724","name":"Uhl's anomaly"} {"id":"HP:0011725","name":"Chaotic multifocal atrial tachycardia"} {"id":"HP:0011726","name":"Persistent fetal circulation"} {"id":"HP:0011727","name":"Peroneal muscle weakness"} {"id":"HP:0011728","name":"Elbow clonus"} {"id":"HP:0011729","name":"Abnormality of joint mobility"} {"id":"HP:0011730","name":"Abnormality of central sensory function"} {"id":"HP:0011731","name":"Abnormality of circulating cortisol level"} {"id":"HP:0011732","name":"Abnormality of adrenal morphology"} {"id":"HP:0011733","name":"Abnormality of adrenal physiology"} {"id":"HP:0011734","name":"Central adrenal insufficiency"} {"id":"HP:0011735","name":"Adrenocorticotropin (ACTH) deficient adrenal insufficiency"} {"id":"HP:0011736","name":"Primary hyperaldosteronism"} {"id":"HP:0011737","name":"Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency"} {"id":"HP:0011738","name":"Corticotropin-releasing hormone receptor (CRHR) defect"} {"id":"HP:0011739","name":"Dexamethasone-suppresible primary hyperaldosteronism"} {"id":"HP:0011740","name":"Glucocortocoid-insensitive primary hyperaldosteronism"} {"id":"HP:0011741","name":"Secondary hyperaldosteronism"} {"id":"HP:0011742","name":"Ectopic adrenal gland"} {"id":"HP:0011743","name":"Adrenal gland agenesis"} {"id":"HP:0011744","name":"Secondary hypercorticolism"} {"id":"HP:0011745","name":"Non-secretory adrenocortical adenoma"} {"id":"HP:0011746","name":"Secretory adrenocortical adenoma"} {"id":"HP:0011747","name":"Abnormality of the anterior pituitary"} {"id":"HP:0011748","name":"Adrenocorticotropic hormone deficiency"} {"id":"HP:0011749","name":"Adrenocorticotropic hormone excess"} {"id":"HP:0011750","name":"Neoplasm of the anterior pituitary"} {"id":"HP:0011751","name":"Abnormality of the posterior pituitary"} {"id":"HP:0011752","name":"Neoplasm of the posterior pituitary"} {"id":"HP:0011753","name":"Posterior pituitary dysgenesis"} {"id":"HP:0011754","name":"Pituicytoma"} {"id":"HP:0011755","name":"Ectopic posterior pituitary"} {"id":"HP:0011756","name":"Posterior pituitary agenesis"} {"id":"HP:0011757","name":"Posterior pituitary hypoplasia"} {"id":"HP:0011758","name":"Pituitary acidophilic stem cell adenoma"} {"id":"HP:0011759","name":"Pituitary gonadotropic cell adenoma"} {"id":"HP:0011760","name":"Pituitary growth hormone cell adenoma"} {"id":"HP:0011761","name":"Pituitary null cell adenoma"} {"id":"HP:0011762","name":"Pituitary thyrotropic cell adenoma"} {"id":"HP:0011763","name":"Pituitary carcinoma"} {"id":"HP:0011764","name":"Pituitary spindle cell oncocytoma"} {"id":"HP:0011766","name":"Abnormality of the parathyroid morphology"} {"id":"HP:0011767","name":"Abnormality of the parathyroid physiology"} {"id":"HP:0011768","name":"Parathyroid dysgenesis"} {"id":"HP:0011769","name":"Ectopic parathyroid"} {"id":"HP:0011770","name":"Tertiary hyperparathyroidism"} {"id":"HP:0011771","name":"Autoimmune hypoparathyroidism"} {"id":"HP:0011772","name":"Abnormality of thyroid morphology"} {"id":"HP:0011773","name":"Uninodular goiter"} {"id":"HP:0011774","name":"Thyroid follicular adenoma"} {"id":"HP:0011775","name":"Thyroid macrofollicular adenoma"} {"id":"HP:0011776","name":"Thyroid microfollicular adenoma"} {"id":"HP:0011777","name":"Thyroid papillary adenoma"} {"id":"HP:0011778","name":"Thyroid atypical adenoma"} {"id":"HP:0011779","name":"Anaplastic thyroid carcinoma"} {"id":"HP:0011780","name":"Thyroid hemiagenesis"} {"id":"HP:0011781","name":"Thyroid C cell hyperplasia"} {"id":"HP:0011782","name":"Thyroid crisis"} {"id":"HP:0011783","name":"Thyrotoxicosis from ectopic thyroid tissue"} {"id":"HP:0011784","name":"Thyrotoxicosis with diffuse goiter"} {"id":"HP:0011785","name":"Thyrotoxicosis with toxic multinodular goitre"} {"id":"HP:0011786","name":"Thyrotoxicosis with toxic single thyroid nodule"} {"id":"HP:0011787","name":"Central hypothyroidism"} {"id":"HP:0011788","name":"Increased serum free triiodothyronine (fT3)"} {"id":"HP:0011789","name":"Thyroid-stimulating hormone receptor (TSHR) defect"} {"id":"HP:0011790","name":"Activating thyroid-stimulating hormone receptor (TSHR) defect"} {"id":"HP:0011791","name":"Inactivating thyroid-stimulating hormone receptor (TSHR) defect"} {"id":"HP:0011792","name":"Neoplasm by histology"} {"id":"HP:0011793","name":"Neoplasm by anatomical site"} {"id":"HP:0011794","name":"Embryonal renal neoplasm"} {"id":"HP:0011795","name":"Intralobar nephroblastomatosis"} {"id":"HP:0011796","name":"Perilobar nephroblastomatosis"} {"id":"HP:0011797","name":"Papillary renal cell carcinoma type 1"} {"id":"HP:0011798","name":"Renal oncocytoma"} {"id":"HP:0011799","name":"Abnormality of facial soft tissue"} {"id":"HP:0011800","name":"Midface retrusion"} {"id":"HP:0011801","name":"Enlargement of parotid gland"} {"id":"HP:0011802","name":"Hamartoma of tongue"} {"id":"HP:0011803","name":"Bifid nose"} {"id":"HP:0011804","name":"Abnormality of muscle physiology"} {"id":"HP:0011805","name":"Abnormality of muscle morphology"} {"id":"HP:0011807","name":"Type 1 muscle fiber atrophy"} {"id":"HP:0011808","name":"Decreased patellar reflex"} {"id":"HP:0011809","name":"Paradoxical myotonia"} {"id":"HP:0011810","name":"Impaired two-point discrimination"} {"id":"HP:0011811","name":"Impaired touch localization"} {"id":"HP:0011812","name":"Agraphesthesia"} {"id":"HP:0011813","name":"Increased cerebral lipofuscin"} {"id":"HP:0011814","name":"Increased urinary hypoxanthine"} {"id":"HP:0011815","name":"Cephalocele"} {"id":"HP:0011816","name":"Parietal encephalocele"} {"id":"HP:0011817","name":"Basal encephalocele"} {"id":"HP:0011818","name":"Nasofrontal encephalocele"} {"id":"HP:0011819","name":"Submucous cleft soft palate"} {"id":"HP:0011820","name":"Membranous choanal atresia"} {"id":"HP:0011821","name":"Abnormality of facial skeleton"} {"id":"HP:0011822","name":"Broad chin"} {"id":"HP:0011823","name":"Chin with horizontal crease"} {"id":"HP:0011824","name":"Chin with H-shaped crease"} {"id":"HP:0011825","name":"Tented philtrum"} {"id":"HP:0011826","name":"Philtrum with midline raphe"} {"id":"HP:0011827","name":"Malaligned philtral ridges"} {"id":"HP:0011828","name":"Midline sinus of philtrum"} {"id":"HP:0011829","name":"Narrow philtrum"} {"id":"HP:0011830","name":"Abnormality of oral mucosa"} {"id":"HP:0011831","name":"Deviated nasal tip"} {"id":"HP:0011832","name":"Narrow nasal tip"} {"id":"HP:0011833","name":"Overhanging nasal tip"} {"id":"HP:0011834","name":"Moyamoya phenomenon"} {"id":"HP:0011835","name":"Absent scaphoid"} {"id":"HP:0011836","name":"Delayed talus ossification"} {"id":"HP:0011837","name":"Partial IgA deficiency"} {"id":"HP:0011838","name":"Sclerodactyly"} {"id":"HP:0011839","name":"Abnormality of T cell number"} {"id":"HP:0011840","name":"Abnormality of T cell physiology"} {"id":"HP:0011841","name":"Ventricular flutter"} {"id":"HP:0011842","name":"Abnormality of skeletal morphology"} {"id":"HP:0011843","name":"Abnormality of skeletal physiology"} {"id":"HP:0011844","name":"Abnormal appendicular skeleton morphology"} {"id":"HP:0011845","name":"Short second metatarsal"} {"id":"HP:0011846","name":"Osteoblastoma"} {"id":"HP:0011847","name":"Giant cell tumor of bone"} {"id":"HP:0011848","name":"Abdominal colic"} {"id":"HP:0011849","name":"Abnormal bone ossification"} {"id":"HP:0011850","name":"Parotitis"} {"id":"HP:0011851","name":"Hemopericardium"} {"id":"HP:0011852","name":"Chylopericardium"} {"id":"HP:0011853","name":"Serous pericardial effusion"} {"id":"HP:0011854","name":"Hemoperitoneum"} {"id":"HP:0011855","name":"Pharyngeal edema"} {"id":"HP:0011856","name":"Pica"} {"id":"HP:0011857","name":"Plasmacytoma"} {"id":"HP:0011858","name":"Reduced factor IX activity"} {"id":"HP:0011859","name":"Punctate keratitis"} {"id":"HP:0011860","name":"Metaphyseal dappling"} {"id":"HP:0011861","name":"Bilateral trilobed lungs"} {"id":"HP:0011862","name":"Abnormal bone collagen fibril morphology"} {"id":"HP:0011863","name":"Abnormal sternal ossification"} {"id":"HP:0011864","name":"Elevated plasma pyrophosphate"} {"id":"HP:0011867","name":"Abnormality of the wing of the ilium"} {"id":"HP:0011868","name":"Sciatica"} {"id":"HP:0011869","name":"Abnormal platelet function"} {"id":"HP:0011870","name":"Impaired arachidonic acid-induced platelet aggregation"} {"id":"HP:0011871","name":"Impaired ristocetin-induced platelet aggregation"} {"id":"HP:0011872","name":"Impaired thrombin-induced platelet aggregation"} {"id":"HP:0011873","name":"Abnormal platelet count"} {"id":"HP:0011874","name":"Heparin-induced thrombocytopenia"} {"id":"HP:0011875","name":"Abnormal platelet morphology"} {"id":"HP:0011876","name":"Abnormal platelet volume"} {"id":"HP:0011877","name":"Increased mean platelet volume"} {"id":"HP:0011878","name":"Abnormal platelet membrane protein expression"} {"id":"HP:0011879","name":"Decreased platelet glycoprotein Ib-IX-V"} {"id":"HP:0011880","name":"Acute disseminated intravascular coagulation"} {"id":"HP:0011881","name":"Decreased platelet glycoprotein VI"} {"id":"HP:0011882","name":"Decreased platelet P2Y12 receptor"} {"id":"HP:0011883","name":"Abnormal platelet granules"} {"id":"HP:0011884","name":"Abnormal umbilical stump bleeding"} {"id":"HP:0011885","name":"Hemorrhage of the eye"} {"id":"HP:0011886","name":"Hyphema"} {"id":"HP:0011887","name":"Choroid hemorrhage"} {"id":"HP:0011888","name":"Bleeding requiring red cell transfusion"} {"id":"HP:0011889","name":"Bleeding with minor or no trauma"} {"id":"HP:0011890","name":"Prolonged bleeding following procedure"} {"id":"HP:0011891","name":"Post-partum hemorrhage"} {"id":"HP:0011892","name":"Vitamin K deficiency"} {"id":"HP:0011893","name":"Abnormal leukocyte count"} {"id":"HP:0011894","name":"Impaired thromboxane A2 agonist-induced platelet aggregation"} {"id":"HP:0011895","name":"Anemia due to reduced life span of red cells"} {"id":"HP:0011896","name":"Subconjunctival hemorrhage"} {"id":"HP:0011897","name":"Neutrophillia"} {"id":"HP:0011898","name":"Abnormality of circulating fibrinogen"} {"id":"HP:0011899","name":"Hyperfibrinogenemia"} {"id":"HP:0011900","name":"Hypofibrinogenemia"} {"id":"HP:0011901","name":"Dysfibrinogenemia"} {"id":"HP:0011902","name":"Abnormal hemoglobin"} {"id":"HP:0011903","name":"Hemoglobin H"} {"id":"HP:0011904","name":"Persistence of hemoglobin F"} {"id":"HP:0011905","name":"Reduced hemoglobin A"} {"id":"HP:0011906","name":"Reduced beta/alpha synthesis ratio"} {"id":"HP:0011907","name":"Reduced alpha/beta synthesis ratio"} {"id":"HP:0011908","name":"Unilateral radial aplasia"} {"id":"HP:0011909","name":"Flattened metacarpal heads"} {"id":"HP:0011910","name":"Shortening of all phalanges of fingers"} {"id":"HP:0011911","name":"Abnormality of metacarpophalangeal joint"} {"id":"HP:0011912","name":"Abnormality of the glenoid fossa"} {"id":"HP:0011913","name":"Lumbar hypertrichosis"} {"id":"HP:0011914","name":"Thoracic hypertrichosis"} {"id":"HP:0011915","name":"Cardiovascular calcification"} {"id":"HP:0011916","name":"Toe extensor amyotrophy"} {"id":"HP:0011917","name":"Short 5th toe"} {"id":"HP:0011918","name":"Clinodactyly of the 4th toe"} {"id":"HP:0011919","name":"Pleural empyema"} {"id":"HP:0011920","name":"Transudative pleural effusion"} {"id":"HP:0011921","name":"Exudative pleural effusion"} {"id":"HP:0011922","name":"Abnormal activity of mitochondrial respiratory chain"} {"id":"HP:0011923","name":"Decreased activity of mitochondrial complex I"} {"id":"HP:0011924","name":"Decreased activity of mitochondrial complex III"} {"id":"HP:0011925","name":"Decreased activity of mitochondrial ATP synthase complex"} {"id":"HP:0011926","name":"Proximal placement of hallux"} {"id":"HP:0011927","name":"Short digit"} {"id":"HP:0011928","name":"Short proximal phalanx of toe"} {"id":"HP:0011929","name":"Hypersegmentation of proximal phalanx of third finger"} {"id":"HP:0011930","name":"Hyperextensible skin of chest"} {"id":"HP:0011931","name":"Abnormality of the cerebellar peduncle"} {"id":"HP:0011932","name":"Abnormality of the superior cerebellar peduncle"} {"id":"HP:0011933","name":"Elongated superior cerebellar peduncle"} {"id":"HP:0011934","name":"Mesenteric artery aneurysm"} {"id":"HP:0011935","name":"Decreased urinary urate"} {"id":"HP:0011936","name":"Decreased plasma total carnitine"} {"id":"HP:0011937","name":"Hypoplastic fifth toenail"} {"id":"HP:0011939","name":"3-4 finger cutaneous syndactyly"} {"id":"HP:0011940","name":"Anterior wedging of T12"} {"id":"HP:0011941","name":"Anterior wedging of L2"} {"id":"HP:0011942","name":"Increased urinary sulfite"} {"id":"HP:0011943","name":"Increased urinary thiosulfate"} {"id":"HP:0011944","name":"Small vessel vasculitis"} {"id":"HP:0011945","name":"Bronchiolitis obliterans organizing pneumonia"} {"id":"HP:0011946","name":"Bronchiolitis obliterans"} {"id":"HP:0011947","name":"Respiratory tract infection"} {"id":"HP:0011948","name":"Acute respiratory tract infection"} {"id":"HP:0011949","name":"Acute infectious pneumonia"} {"id":"HP:0011950","name":"Bronchiolitis"} {"id":"HP:0011951","name":"Aspiration pneumonia"} {"id":"HP:0011952","name":"Acute aspiration pneumonia"} {"id":"HP:0011953","name":"Pulmonary lymphoma"} {"id":"HP:0011954","name":"Nodular regenerative hyperplasia of liver"} {"id":"HP:0011955","name":"Hepatic granulomatosis"} {"id":"HP:0011956","name":"Intestinal lymphoid nodular hyperplasia"} {"id":"HP:0011957","name":"Abnormality of the pectoral muscle"} {"id":"HP:0011958","name":"Retinal perforation"} {"id":"HP:0011959","name":"Unilateral hypoplasia of pectoralis major muscle"} {"id":"HP:0011960","name":"Substantia nigra gliosis"} {"id":"HP:0011961","name":"Non-obstructive azoospermia"} {"id":"HP:0011962","name":"Obstructive azoospermia"} {"id":"HP:0011963","name":"Pretesticular azoospermia"} {"id":"HP:0011964","name":"Intermittent painful muscle spasms"} {"id":"HP:0011965","name":"Abnormality of citrulline metabolism"} {"id":"HP:0011966","name":"Elevated plasma citrulline"} {"id":"HP:0011967","name":"Hypocupremia"} {"id":"HP:0011968","name":"Feeding difficulties"} {"id":"HP:0011969","name":"Elevated luteinizing hormone"} {"id":"HP:0011970","name":"Cerebral amyloid angiopathy"} {"id":"HP:0011971","name":"Dermatographic urticaria"} {"id":"HP:0011972","name":"Hypoglycorrhachia"} {"id":"HP:0011973","name":"Paroxysmal lethargy"} {"id":"HP:0011974","name":"Myelofibrosis"} {"id":"HP:0011975","name":"Aminoglycoside-induced hearing loss"} {"id":"HP:0011976","name":"Elevated urinary catecholamines"} {"id":"HP:0011977","name":"Elevated urinary homovanillic acid"} {"id":"HP:0011978","name":"Elevated urinary vanillylmandelic acid"} {"id":"HP:0011979","name":"Elevated urinary dopamine"} {"id":"HP:0011980","name":"Cholesterol gallstones"} {"id":"HP:0011981","name":"Pigment gallstones"} {"id":"HP:0011982","name":"Black pigment gallstones"} {"id":"HP:0011983","name":"Brown pigment gallstones"} {"id":"HP:0011984","name":"Atretic gallbladder"} {"id":"HP:0011985","name":"Acholic stools"} {"id":"HP:0011986","name":"Ectopic ossification"} {"id":"HP:0011987","name":"Ectopic ossification in muscle tissue"} {"id":"HP:0011988","name":"Ectopic ossification in tendon tissue"} {"id":"HP:0011989","name":"Ectopic ossification in ligament tissue"} {"id":"HP:0011990","name":"Abnormality of neutrophil physiology"} {"id":"HP:0011991","name":"Abnormal neutrophil cell number"} {"id":"HP:0011992","name":"Abnormality of neutrophil morphology"} {"id":"HP:0011993","name":"Impaired neutrophil bactericidal activity"} {"id":"HP:0011994","name":"Abnormality of the atrial septum"} {"id":"HP:0011995","name":"Atrial septal aneurysm"} {"id":"HP:0011996","name":"Elevated factor V activity"} {"id":"HP:0011997","name":"Postprandial hyperlactemia"} {"id":"HP:0011998","name":"Postprandial hyperglycemia"} {"id":"HP:0011999","name":"Paranoia"} {"id":"HP:0012000","name":"EEG with generalized spikes"} {"id":"HP:0012001","name":"EEG with generalized polyspikes"} {"id":"HP:0012002","name":"Experiential auras"} {"id":"HP:0012003","name":"Affective auras"} {"id":"HP:0012004","name":"Mnemonic auras"} {"id":"HP:0012005","name":"Deja vu"} {"id":"HP:0012006","name":"Jamais vu"} {"id":"HP:0012007","name":"Hallucinatory auras"} {"id":"HP:0012008","name":"Illusory auras"} {"id":"HP:0012009","name":"EEG with central focal spike waves"} {"id":"HP:0012010","name":"EEG with frontal focal spike waves"} {"id":"HP:0012011","name":"EEG with occipital focal spike waves"} {"id":"HP:0012012","name":"EEG with parietal focal spike waves"} {"id":"HP:0012013","name":"EEG with temporal focal spike waves"} {"id":"HP:0012014","name":"EEG with central focal spikes"} {"id":"HP:0012015","name":"EEG with frontal focal spikes"} {"id":"HP:0012016","name":"EEG with occipital focal spikes"} {"id":"HP:0012017","name":"EEG with parietal focal spikes"} {"id":"HP:0012018","name":"EEG with temporal focal spikes"} {"id":"HP:0012019","name":"Lens luxation"} {"id":"HP:0012020","name":"Right aortic arch"} {"id":"HP:0012021","name":"Persistent patent ductus venosus"} {"id":"HP:0012022","name":"Congenital portosystemic venous shunt"} {"id":"HP:0012023","name":"Galactosuria"} {"id":"HP:0012024","name":"Hypergalactosemia"} {"id":"HP:0012025","name":"Abnormality of ornithine metabolism"} {"id":"HP:0012026","name":"Hyperornithinemia"} {"id":"HP:0012027","name":"Laryngeal edema"} {"id":"HP:0012028","name":"Hepatocellular adenoma"} {"id":"HP:0012029","name":"Abnormality of urine hormone level"} {"id":"HP:0012030","name":"Increased urinary cortisol level"} {"id":"HP:0012031","name":"Lipomatous tumor"} {"id":"HP:0012032","name":"Lipoma"} {"id":"HP:0012033","name":"Sacral lipoma"} {"id":"HP:0012034","name":"Liposarcoma"} {"id":"HP:0012035","name":"Steatocystoma multiplex"} {"id":"HP:0012036","name":"Sternocleidomastoid amyotrophy"} {"id":"HP:0012037","name":"Pectoralis amyotrophy"} {"id":"HP:0012038","name":"Corneal guttata"} {"id":"HP:0012039","name":"Descemet Membrane Folds"} {"id":"HP:0012040","name":"Corneal stromal edema"} {"id":"HP:0012041","name":"Decreased fertility in males"} {"id":"HP:0012042","name":"Aspirin-induced asthma"} {"id":"HP:0012043","name":"Pendular nystagmus"} {"id":"HP:0012044","name":"Seesaw nystagmus"} {"id":"HP:0012045","name":"Retinal flecks"} {"id":"HP:0012046","name":"Areflexia of upper limbs"} {"id":"HP:0012047","name":"Hemeralopia"} {"id":"HP:0012048","name":"Oromandibular dystonia"} {"id":"HP:0012049","name":"Laryngeal dystonia"} {"id":"HP:0012050","name":"Anasarca"} {"id":"HP:0012051","name":"Reactive hypoglycemia"} {"id":"HP:0012052","name":"Low serum calcitriol (1,25-dihydroxycholecalciferol)"} {"id":"HP:0012053","name":"Low serum calcifediol (25-hydroxycholecalciferol)"} {"id":"HP:0012054","name":"Choroidal melanoma"} {"id":"HP:0012055","name":"Ciliary body melanoma"} {"id":"HP:0012056","name":"Cutaneous melanoma"} {"id":"HP:0012057","name":"Superficial spreading melanoma"} {"id":"HP:0012058","name":"Nodular melanoma"} {"id":"HP:0012059","name":"Lentigo maligna melanoma"} {"id":"HP:0012060","name":"Acral lentiginous melanoma"} {"id":"HP:0012061","name":"Urinary excretion of sialylated oligosaccharides"} {"id":"HP:0012062","name":"Bone cyst"} {"id":"HP:0012063","name":"Aneurysmal bone cyst"} {"id":"HP:0012064","name":"Unicameral bone cyst"} {"id":"HP:0012065","name":"Multiple bony cystic lesions"} {"id":"HP:0012066","name":"Increased urinary disaccharide excretion"} {"id":"HP:0012067","name":"Glycopeptiduria"} {"id":"HP:0012068","name":"Aspartylglucosaminuria"} {"id":"HP:0012069","name":"Keratan sulfate excretion in urine"} {"id":"HP:0012070","name":"Chondroitin sulfate excretion in urine"} {"id":"HP:0012071","name":"Abnormality of acetylcarnitine metabolism"} {"id":"HP:0012072","name":"Aciduria"} {"id":"HP:0012073","name":"Abnormal urinary acylglycine profile"} {"id":"HP:0012074","name":"Tonic pupil"} {"id":"HP:0012075","name":"Personality disorder"} {"id":"HP:0012076","name":"Borderline personality disorder"} {"id":"HP:0012077","name":"Histrionic personality disorder"} {"id":"HP:0012078","name":"Motor conduction block"} {"id":"HP:0012079","name":"Abnormality of central motor conduction"} {"id":"HP:0012080","name":"Cerebellar granular layer atrophy"} {"id":"HP:0012081","name":"Enlarged cerebellum"} {"id":"HP:0012082","name":"Cerebellar Purkinje layer atrophy"} {"id":"HP:0012083","name":"Ubiquitin-positive cerebral inclusion bodies"} {"id":"HP:0012084","name":"Abnormality of skeletal muscle fiber size"} {"id":"HP:0012085","name":"Pyuria"} {"id":"HP:0012086","name":"Abnormal urinary color"} {"id":"HP:0012087","name":"Abnormal mitochondrial shape"} {"id":"HP:0012088","name":"Abnormal urinary odor"} {"id":"HP:0012089","name":"Arteritis"} {"id":"HP:0012090","name":"Abnormality of pancreas morphology"} {"id":"HP:0012091","name":"Abnormality of pancreas physiology"} {"id":"HP:0012092","name":"Abnormality of exocrine pancreas physiology"} {"id":"HP:0012093","name":"Abnormality of endocrine pancreas physiology"} {"id":"HP:0012094","name":"Abnormal pancreas size"} {"id":"HP:0012095","name":"Multiple joint dislocation"} {"id":"HP:0012096","name":"Intracranial epidermoid cyst"} {"id":"HP:0012097","name":"Intracranial dermoid cyst"} {"id":"HP:0012098","name":"Edema of the dorsum of feet"} {"id":"HP:0012099","name":"Abnormality of circulating catecholamine level"} {"id":"HP:0012100","name":"Abnormal circulating creatinine level"} {"id":"HP:0012101","name":"Decreased serum creatinine"} {"id":"HP:0012102","name":"Abnormal mitochondrial number"} {"id":"HP:0012103","name":"Abnormality of the mitochondrion"} {"id":"HP:0012104","name":"Parietal cortical atrophy"} {"id":"HP:0012105","name":"Occipital cortical atrophy"} {"id":"HP:0012106","name":"Rhizomelic leg shortening"} {"id":"HP:0012107","name":"Increased fibular diameter"} {"id":"HP:0012108","name":"Primary open angle glaucoma"} {"id":"HP:0012109","name":"Primary angle closure glaucoma"} {"id":"HP:0012110","name":"Hypoplasia of the pons"} {"id":"HP:0012111","name":"Abnormality of circulating glucocorticoid level"} {"id":"HP:0012112","name":"Abnormality of circulating corticosterone level"} {"id":"HP:0012113","name":"Abnormality of creatine metabolism"} {"id":"HP:0012114","name":"Endometrial carcinoma"} {"id":"HP:0012115","name":"Hepatitis"} {"id":"HP:0012116","name":"Abnormal albumin level"} {"id":"HP:0012117","name":"Hyperalbuminemia"} {"id":"HP:0012118","name":"Laryngeal carcinoma"} {"id":"HP:0012119","name":"Methemoglobinemia"} {"id":"HP:0012120","name":"Methylmalonic aciduria"} {"id":"HP:0012121","name":"Panuveitis"} {"id":"HP:0012122","name":"Anterior uveitis"} {"id":"HP:0012123","name":"Posterior uveitis"} {"id":"HP:0012124","name":"Intermediate uveitis"} {"id":"HP:0012125","name":"Prostate cancer"} {"id":"HP:0012126","name":"Stomach cancer"} {"id":"HP:0012127","name":"Uraciluria"} {"id":"HP:0012128","name":"Basal ganglia necrosis"} {"id":"HP:0012129","name":"Abnormality of bone marrow stromal cells"} {"id":"HP:0012130","name":"Abnormality of cells of the erythroid lineage"} {"id":"HP:0012131","name":"Abnormal number of erythroid precursors"} {"id":"HP:0012132","name":"Erythroid hyperplasia"} {"id":"HP:0012133","name":"Erythroid hypoplasia"} {"id":"HP:0012134","name":"Dysplastic erythropoesis"} {"id":"HP:0012135","name":"Abnormality of cells of the granulocytic lineage"} {"id":"HP:0012136","name":"Dysplastic granulopoesis"} {"id":"HP:0012137","name":"Abnormal number of granulocyte precursors"} {"id":"HP:0012138","name":"Granulocytic hyperplasia"} {"id":"HP:0012139","name":"Granulocytic hypoplasia"} {"id":"HP:0012140","name":"Abnormality of cells of the lymphoid lineage"} {"id":"HP:0012142","name":"Pancreatic squamous cell carcinoma"} {"id":"HP:0012143","name":"Abnormality of cells of the megakaryocyte lineage"} {"id":"HP:0012144","name":"Abnormality of cells of the monocyte/macrophage lineage"} {"id":"HP:0012145","name":"Abnormality of multiple cell lineages in the bone marrow"} {"id":"HP:0012146","name":"Abnormality of von Willebrand factor"} {"id":"HP:0012147","name":"Reduced quantity of Von Willebrand factor"} {"id":"HP:0012148","name":"Multiple lineage myelodysplasia"} {"id":"HP:0012149","name":"Bilineage myelodysplasia"} {"id":"HP:0012150","name":"Single lineage myelodysplasia"} {"id":"HP:0012151","name":"Hemothorax"} {"id":"HP:0012152","name":"Foveoschisis"} {"id":"HP:0012153","name":"Hypotriglyceridemia"} {"id":"HP:0012154","name":"Anhedonia"} {"id":"HP:0012155","name":"Decreased corneal sensation"} {"id":"HP:0012156","name":"Hemophagocytosis"} {"id":"HP:0012157","name":"Subcortical cerebral atrophy"} {"id":"HP:0012158","name":"Carotid artery dissection"} {"id":"HP:0012159","name":"Internal carotid artery dissection"} {"id":"HP:0012160","name":"Intracranial internal carotid artery dissection"} {"id":"HP:0012161","name":"External carotid artery dissection"} {"id":"HP:0012162","name":"Common carotid artery dissection"} {"id":"HP:0012163","name":"Carotid artery aneurysm"} {"id":"HP:0012164","name":"Asterixis"} {"id":"HP:0012165","name":"Oligodactyly"} {"id":"HP:0012166","name":"Skin-picking"} {"id":"HP:0012167","name":"Hair-pulling"} {"id":"HP:0012168","name":"Head-banging"} {"id":"HP:0012169","name":"Self-biting"} {"id":"HP:0012170","name":"Nail-biting"} {"id":"HP:0012171","name":"Stereotypical hand wringing"} {"id":"HP:0012172","name":"Stereotypical body rocking"} {"id":"HP:0012173","name":"Orthostatic tachycardia"} {"id":"HP:0012174","name":"Glioblastoma multiforme"} {"id":"HP:0012175","name":"Resistance to activated protein C"} {"id":"HP:0012176","name":"Abnormality of natural killer cells"} {"id":"HP:0012177","name":"Abnormal natural killer cell physiology"} {"id":"HP:0012178","name":"Reduced natural killer cell activity"} {"id":"HP:0012179","name":"Craniofacial dystonia"} {"id":"HP:0012180","name":"Cystic medial necrosis"} {"id":"HP:0012181","name":"Entrapment neuropathy"} {"id":"HP:0012182","name":"Oropharyngeal squamous cell carcinoma"} {"id":"HP:0012183","name":"Hyperplastic colonic polyposis"} {"id":"HP:0012184","name":"Hyperalphalipoproteinemia"} {"id":"HP:0012185","name":"Constrictive median neuropathy"} {"id":"HP:0012186","name":"Entrapment neuropathy of the ulnar nerve at elbow"} {"id":"HP:0012187","name":"Increased erythrocyte protoporphyrin concentration"} {"id":"HP:0012188","name":"Hyperemesis gravidarum"} {"id":"HP:0012189","name":"Hodgkin lymphoma"} {"id":"HP:0012190","name":"T-cell lymphoma"} {"id":"HP:0012191","name":"B-cell lymphoma"} {"id":"HP:0012192","name":"Cutaneous T-cell lymphoma"} {"id":"HP:0012193","name":"Anaplastic large-cell lymphoma"} {"id":"HP:0012194","name":"Episodic hemiplegia"} {"id":"HP:0012195","name":"Irregular respiration"} {"id":"HP:0012196","name":"Cheyne-Stokes respiration"} {"id":"HP:0012197","name":"Insulinoma"} {"id":"HP:0012198","name":"Juvenile colonic polyposis"} {"id":"HP:0012199","name":"Cluster headache"} {"id":"HP:0012200","name":"Abnormality of prothrombin"} {"id":"HP:0012201","name":"Reduced prothrombin activity"} {"id":"HP:0012202","name":"Increased serum bile acid concentration"} {"id":"HP:0012203","name":"Onychomycosis"} {"id":"HP:0012204","name":"Recurrent vulvovaginal candidiasis"} {"id":"HP:0012205","name":"Globozoospermia"} {"id":"HP:0012206","name":"Abnormal sperm motility"} {"id":"HP:0012207","name":"Reduced sperm motility"} {"id":"HP:0012208","name":"Nonmotile sperm"} {"id":"HP:0012209","name":"Juvenile myelomonocytic leukemia"} {"id":"HP:0012210","name":"Abnormal renal morphology"} {"id":"HP:0012211","name":"Abnormal renal physiology"} {"id":"HP:0012212","name":"Abnormal glomerular filtration rate"} {"id":"HP:0012213","name":"Decreased glomerular filtration rate"} {"id":"HP:0012214","name":"Increased glomerular filtration rate"} {"id":"HP:0012215","name":"Testicular microlithiasis"} {"id":"HP:0012216","name":"Entrapment neuropathy of suprascapular nerve"} {"id":"HP:0012217","name":"Increased urinary porphobilinogen"} {"id":"HP:0012218","name":"Alveolar soft part sarcoma"} {"id":"HP:0012219","name":"Erythema nodosum"} {"id":"HP:0012220","name":"Non-caseating epithelioid cell granulomatosis"} {"id":"HP:0012221","name":"Pretibial blistering"} {"id":"HP:0012222","name":"Arachnoid hemangiomatosis"} {"id":"HP:0012223","name":"Splenic rupture"} {"id":"HP:0012224","name":"Circulating immune complexes"} {"id":"HP:0012225","name":"Oligodontia of primary teeth"} {"id":"HP:0012226","name":"Ovarian teratoma"} {"id":"HP:0012227","name":"Urethral stricture"} {"id":"HP:0012228","name":"Tension-type headache"} {"id":"HP:0012229","name":"CSF pleocytosis"} {"id":"HP:0012230","name":"Rhegmatogenous retinal detachment"} {"id":"HP:0012231","name":"Exudative retinal detachment"} {"id":"HP:0012232","name":"Shortened QT interval"} {"id":"HP:0012233","name":"Intramuscular hematoma"} {"id":"HP:0012234","name":"Agranulocytosis"} {"id":"HP:0012235","name":"Drug-induced agranulocytosis"} {"id":"HP:0012236","name":"Elevated sweat chloride"} {"id":"HP:0012237","name":"Urocanic aciduria"} {"id":"HP:0012238","name":"Hyperchylomicronemia"} {"id":"HP:0012239","name":"Atransferrinemia"} {"id":"HP:0012240","name":"Increased intramyocellular lipid droplets"} {"id":"HP:0012241","name":"Levator palpebrae superioris atrophy"} {"id":"HP:0012242","name":"Superior rectus atrophy"} {"id":"HP:0012243","name":"Abnormal genital system morphology"} {"id":"HP:0012244","name":"Abnormal sex determination"} {"id":"HP:0012245","name":"Sex reversal"} {"id":"HP:0012246","name":"Oculomotor nerve palsy"} {"id":"HP:0012247","name":"Specific anosmia"} {"id":"HP:0012248","name":"Prolonged PR interval"} {"id":"HP:0012249","name":"Abnormal ST segment"} {"id":"HP:0012250","name":"ST segment depression"} {"id":"HP:0012251","name":"ST segment elevation"} {"id":"HP:0012252","name":"Abnormal respiratory system morphology"} {"id":"HP:0012253","name":"Abnormal respiratory epithelium morphology"} {"id":"HP:0012254","name":"Ewing's sarcoma"} {"id":"HP:0012255","name":"Dynein arm defect of respiratory motile cilia"} {"id":"HP:0012256","name":"Absent outer dynein arms"} {"id":"HP:0012257","name":"Absent inner dynein arms"} {"id":"HP:0012258","name":"Abnormal axonemal organization of respiratory motile cilia"} {"id":"HP:0012259","name":"Absent inner and outer dynein arms"} {"id":"HP:0012260","name":"Abnormal central microtubular pair morphology of respiratory motile cilia"} {"id":"HP:0012261","name":"Abnormal respiratory motile cilium physiology"} {"id":"HP:0012262","name":"Abnormal ciliary motility"} {"id":"HP:0012263","name":"Immotile cilia"} {"id":"HP:0012264","name":"Absent central microtubular pair morphology of respiratory motile cilia"} {"id":"HP:0012265","name":"Ciliary dyskinesia"} {"id":"HP:0012266","name":"T-wave alternans"} {"id":"HP:0012267","name":"Absent respiratory ciliary axoneme radial spokes"} {"id":"HP:0012268","name":"Myxoid liposarcoma"} {"id":"HP:0012269","name":"Abnormal muscle glycogen content"} {"id":"HP:0012270","name":"Decreased muscle glycogen content"} {"id":"HP:0012271","name":"Episodic upper airway obstruction"} {"id":"HP:0012272","name":"J wave"} {"id":"HP:0012273","name":"Increased carotid artery intimal medial thickness"} {"id":"HP:0012276","name":"Digital flexor tenosynovitis"} {"id":"HP:0012277","name":"Hypoglycinemia"} {"id":"HP:0012278","name":"Abnormality of serine metabolism"} {"id":"HP:0012279","name":"Hyposerinemia"} {"id":"HP:0012280","name":"Hepatic amyloidosis"} {"id":"HP:0012281","name":"Chylous ascites"} {"id":"HP:0012282","name":"Morbilliform rash"} {"id":"HP:0012283","name":"Small distal femoral epiphysis"} {"id":"HP:0012284","name":"Small proximal tibial epiphyses"} {"id":"HP:0012285","name":"Abnormal hypothalamus physiology"} {"id":"HP:0012286","name":"Abnormal hypothalamus morphology"} {"id":"HP:0012287","name":"Hypothalamic luteinizing hormone-releasing hormone deficiency"} {"id":"HP:0012288","name":"Neoplasm of head and neck"} {"id":"HP:0012289","name":"Facial neoplasm"} {"id":"HP:0012290","name":"Mouth neoplasm"} {"id":"HP:0012292","name":"Fusion of gums"} {"id":"HP:0012293","name":"Abnormal genital pigmentation"} {"id":"HP:0012294","name":"Abnormality of the occipital bone"} {"id":"HP:0012295","name":"Slender middle phalanx of finger"} {"id":"HP:0012296","name":"Slender distal phalanx of finger"} {"id":"HP:0012297","name":"Slender proximal phalanx of finger"} {"id":"HP:0012298","name":"Long middle phalanx of finger"} {"id":"HP:0012299","name":"Long distal phalanx of finger"} {"id":"HP:0012300","name":"Ureteral agenesis"} {"id":"HP:0012301","name":"Type II transferrin isoform profile"} {"id":"HP:0012302","name":"Herpes simplex encephalitis"} {"id":"HP:0012303","name":"Abnormality of the aortic arch"} {"id":"HP:0012304","name":"Hypoplastic aortic arch"} {"id":"HP:0012305","name":"Coarctation of the descending aortic arch"} {"id":"HP:0012306","name":"Abnormal rib ossification"} {"id":"HP:0012307","name":"Spatulate ribs"} {"id":"HP:0012308","name":"Decreased serum complement C9"} {"id":"HP:0012309","name":"Cutaneous amyloidosis"} {"id":"HP:0012310","name":"Abnormal monocyte count"} {"id":"HP:0012311","name":"Monocytosis"} {"id":"HP:0012312","name":"Monocytopenia"} {"id":"HP:0012313","name":"Heberden's node"} {"id":"HP:0012314","name":"Bouchard's node"} {"id":"HP:0012315","name":"Histiocytoma"} {"id":"HP:0012316","name":"Fibrous tissue neoplasm"} {"id":"HP:0012317","name":"Sacroiliac arthritis"} {"id":"HP:0012318","name":"Occipital neuralgia"} {"id":"HP:0012319","name":"Absent pigmentation of the abdomen"} {"id":"HP:0012320","name":"Absent pigmentation of the limbs"} {"id":"HP:0012321","name":"D-2-hydroxyglutaric aciduria"} {"id":"HP:0012322","name":"Perifolliculitis"} {"id":"HP:0012323","name":"Sleep myoclonus"} {"id":"HP:0012324","name":"Myeloid leukemia"} {"id":"HP:0012325","name":"Chronic myelomonocytic leukemia"} {"id":"HP:0012326","name":"Abnormality of the celiac artery"} {"id":"HP:0012327","name":"Celiac artery compression"} {"id":"HP:0012328","name":"Cementoma"} {"id":"HP:0012329","name":"Tufted angioma"} {"id":"HP:0012330","name":"Pyelonephritis"} {"id":"HP:0012331","name":"Abnormal autonomic nervous system morphology"} {"id":"HP:0012332","name":"Abnormal autonomic nervous system physiology"} {"id":"HP:0012333","name":"Abnormal sudomotor regulation"} {"id":"HP:0012334","name":"Extrahepatic cholestasis"} {"id":"HP:0012335","name":"Abnormality of folate metabolism"} {"id":"HP:0012336","name":"Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration"} {"id":"HP:0012337","name":"Abnormal homeostasis"} {"id":"HP:0012338","name":"Abnormal energy expenditure"} {"id":"HP:0012339","name":"Increased resting energy expenditure"} {"id":"HP:0012340","name":"Decreased resting energy expenditure"} {"id":"HP:0012341","name":"Microprolactinoma"} {"id":"HP:0012342","name":"Macroprolactinoma"} {"id":"HP:0012343","name":"Decreased serum ferritin"} {"id":"HP:0012344","name":"Morphea"} {"id":"HP:0012345","name":"Abnormal glycosylation"} {"id":"HP:0012346","name":"Abnormal protein glycosylation"} {"id":"HP:0012347","name":"Abnormal protein N-linked glycosylation"} {"id":"HP:0012348","name":"Decreased galactosylation of N-linked protein glycosylation"} {"id":"HP:0012349","name":"Abnormal sialylation of N-linked protein glycosylation"} {"id":"HP:0012350","name":"Decreased sialylation of N-linked protein glycosylation"} {"id":"HP:0012351","name":"Increased sialylation of N-linked protein glycosylation"} {"id":"HP:0012352","name":"Abnormal fucosylation of protein N-linked glycosylation"} {"id":"HP:0012353","name":"Decreased fucosylation of N-linked protein glycosylation"} {"id":"HP:0012354","name":"Increased fucosylation of N-linked protein glycosylation"} {"id":"HP:0012355","name":"Abnormal mannosylation of N-linked protein glycosylation"} {"id":"HP:0012356","name":"Decreased mannosylation of N-linked protein glycosylation"} {"id":"HP:0012357","name":"Increased mannosylation of N-linked protein glycosylation"} {"id":"HP:0012358","name":"Abnormal protein O-linked glycosylation"} {"id":"HP:0012359","name":"Abnormal fucosylation of O-linked protein glycosylation"} {"id":"HP:0012360","name":"Decreased fucosylation of O-linked protein glycosylation"} {"id":"HP:0012361","name":"Increased fucosylation of O-linked protein glycosylation"} {"id":"HP:0012362","name":"Abnormal sialylation of O-linked protein glycosylation"} {"id":"HP:0012363","name":"Decreased sialylation of O-linked protein glycosylation"} {"id":"HP:0012364","name":"Decreased urinary potassium"} {"id":"HP:0012365","name":"Hypophosphaturia"} {"id":"HP:0012366","name":"Basilar invagination"} {"id":"HP:0012367","name":"Extra fontanelles"} {"id":"HP:0012368","name":"Flat face"} {"id":"HP:0012369","name":"Malar anomaly"} {"id":"HP:0012370","name":"Cheekbone prominence"} {"id":"HP:0012371","name":"Midface prominence"} {"id":"HP:0012372","name":"Abnormal eye morphology"} {"id":"HP:0012373","name":"Abnormal eye physiology"} {"id":"HP:0012374","name":"Abnormality of the globe"} {"id":"HP:0012375","name":"Chemosis"} {"id":"HP:0012376","name":"Microphakia"} {"id":"HP:0012377","name":"Hemianopsia"} {"id":"HP:0012378","name":"Fatigue"} {"id":"HP:0012379","name":"Abnormal enzyme/coenzyme activity"} {"id":"HP:0012380","name":"Reduced carnitine O-palmitoyltransferase activity"} {"id":"HP:0012381","name":"Delayed self-feeding during toddler years"} {"id":"HP:0012382","name":"Left-to-right shunt"} {"id":"HP:0012383","name":"Bidirectional shunt"} {"id":"HP:0012384","name":"Rhinitis"} {"id":"HP:0012385","name":"Camptodactyly"} {"id":"HP:0012386","name":"Absent hallux"} {"id":"HP:0012387","name":"Bronchitis"} {"id":"HP:0012388","name":"Acute bronchitis"} {"id":"HP:0012389","name":"Appendicular hypotonia"} {"id":"HP:0012390","name":"Anal fissure"} {"id":"HP:0012391","name":"Hyporeflexia of upper limbs"} {"id":"HP:0012392","name":"Jaw hyporeflexia"} {"id":"HP:0012393","name":"Allergy"} {"id":"HP:0012394","name":"Iodine contrast allergy"} {"id":"HP:0012395","name":"Seasonal allergy"} {"id":"HP:0012396","name":"Biliary dyskinesia"} {"id":"HP:0012397","name":"Aortic atherosclerosis"} {"id":"HP:0012398","name":"Peripheral edema"} {"id":"HP:0012399","name":"Pressure ulcer"} {"id":"HP:0012400","name":"Abnormal aldolase level"} {"id":"HP:0012401","name":"Abnormal urine alpha-ketoglutarate concentration"} {"id":"HP:0012402","name":"Increased urine alpha-ketoglutarate concentration"} {"id":"HP:0012403","name":"Decreased urine alpha-ketoglutarate concentration"} {"id":"HP:0012404","name":"Abnormal urine citrate concentration"} {"id":"HP:0012405","name":"Hypocitraturia"} {"id":"HP:0012406","name":"Hypercitraturia"} {"id":"HP:0012407","name":"Scissor gait"} {"id":"HP:0012408","name":"Medullary nephrocalcinosis"} {"id":"HP:0012409","name":"Cortical nephrocalcinosis"} {"id":"HP:0012410","name":"Pure red cell aplasia"} {"id":"HP:0012411","name":"Premature pubarche"} {"id":"HP:0012412","name":"Premature adrenarche"} {"id":"HP:0012413","name":"Notched primary central incisor"} {"id":"HP:0012414","name":"Duodenal atrophy"} {"id":"HP:0012415","name":"Abnormal blood gas level"} {"id":"HP:0012416","name":"Hypercapnia"} {"id":"HP:0012417","name":"Hypocapnia"} {"id":"HP:0012418","name":"Hypoxemia"} {"id":"HP:0012419","name":"Hyperoxemia"} {"id":"HP:0012420","name":"Meconium stained amniotic fluid"} {"id":"HP:0012421","name":"Congenital absence of foreskin"} {"id":"HP:0012422","name":"Villous hypertrophy of choroid plexus"} {"id":"HP:0012423","name":"Colonic inertia"} {"id":"HP:0012424","name":"Chorioretinitis"} {"id":"HP:0012425","name":"Stercoral ulcer"} {"id":"HP:0012426","name":"Optic disc drusen"} {"id":"HP:0012427","name":"Excessive femoral anteversion"} {"id":"HP:0012428","name":"Prominent calcaneus"} {"id":"HP:0012429","name":"Aplasia/Hypoplasia of the cerebral white matter"} {"id":"HP:0012430","name":"Cerebral white matter hypoplasia"} {"id":"HP:0012431","name":"Episodic fatigue"} {"id":"HP:0012432","name":"Chronic fatigue"} {"id":"HP:0012433","name":"Abnormal social behavior"} {"id":"HP:0012434","name":"Delayed social development"} {"id":"HP:0012435","name":"Ventral shortening of foreskin"} {"id":"HP:0012436","name":"Nonocclusive coronary artery disease"} {"id":"HP:0012437","name":"Abnormal gallbladder morphology"} {"id":"HP:0012438","name":"Abnormal gallbladder physiology"} {"id":"HP:0012439","name":"Abnormal biliary tract physiology"} {"id":"HP:0012440","name":"Abnormal biliary tract morphology"} {"id":"HP:0012441","name":"Sphincter of Oddi dyskinesia"} {"id":"HP:0012442","name":"Gallbladder dyskinesia"} {"id":"HP:0012443","name":"Abnormality of brain morphology"} {"id":"HP:0012444","name":"Brain atrophy"} {"id":"HP:0012446","name":"Low CSF 5-methyltetrahydrofolate"} {"id":"HP:0012447","name":"Abnormal myelination"} {"id":"HP:0012448","name":"Delayed myelination"} {"id":"HP:0012449","name":"Sacroiliac joint synovitis"} {"id":"HP:0012450","name":"Chronic constipation"} {"id":"HP:0012451","name":"Acute constipation"} {"id":"HP:0012452","name":"Restless legs"} {"id":"HP:0012453","name":"Bilateral wrist flexion contracture"} {"id":"HP:0012454","name":"Unilateral wrist flexion contracture"} {"id":"HP:0012455","name":"Large artery calcification"} {"id":"HP:0012456","name":"Medial arterial calcification"} {"id":"HP:0012457","name":"Medial calcification of medium-sized arteries"} {"id":"HP:0012458","name":"Medial calcification of small arteries"} {"id":"HP:0012459","name":"Hypnic headache"} {"id":"HP:0012460","name":"Dysmorphic inferior cerebellar vermis"} {"id":"HP:0012461","name":"Bacteriuria"} {"id":"HP:0012462","name":"Chin myoclonus"} {"id":"HP:0012463","name":"Elevated transferrin saturation"} {"id":"HP:0012464","name":"Decreased transferrin saturation"} {"id":"HP:0012465","name":"Elevated hepatic iron concentration"} {"id":"HP:0012466","name":"Chronic respiratory acidosis"} {"id":"HP:0012467","name":"Acute respiratory acidosis"} {"id":"HP:0012468","name":"Chronic acidosis"} {"id":"HP:0012469","name":"Infantile spasms"} {"id":"HP:0012470","name":"Setting-sun eye phenomenon"} {"id":"HP:0012471","name":"Thick vermilion border"} {"id":"HP:0012472","name":"Eclabion"} {"id":"HP:0012473","name":"Tongue atrophy"} {"id":"HP:0012474","name":"Carotid artery occlusion"} {"id":"HP:0012475","name":"Specific antibody deficiency"} {"id":"HP:0012476","name":"Specific pneumococcal antibody deficiency"} {"id":"HP:0012477","name":"Vocal tremor"} {"id":"HP:0012478","name":"Temporomandibular joint ankylosis"} {"id":"HP:0012479","name":"Temporomandibular joint crepitus"} {"id":"HP:0012480","name":"Abnormality of cerebral veins"} {"id":"HP:0012481","name":"Cerebral venous angioma"} {"id":"HP:0012482","name":"Frontal venous angioma"} {"id":"HP:0012483","name":"Abnormal alpha granules"} {"id":"HP:0012484","name":"Abnormal dense granules"} {"id":"HP:0012485","name":"Abnormal surface-connected open canalicular system"} {"id":"HP:0012486","name":"Myelitis"} {"id":"HP:0012487","name":"Cerebellopontine angle arachnoid cyst"} {"id":"HP:0012488","name":"Intraventricular arachnoid cyst"} {"id":"HP:0012489","name":"Suprasellar arachnoid cyst"} {"id":"HP:0012490","name":"Panniculitis"} {"id":"HP:0012491","name":"Abnormal dense tubular system"} {"id":"HP:0012492","name":"Cerebral artery stenosis"} {"id":"HP:0012493","name":"Middle cerebral artery stenosis"} {"id":"HP:0012494","name":"Anterior cerebral artery stenosis"} {"id":"HP:0012495","name":"Posterior cerebral artery stenosis"} {"id":"HP:0012496","name":"Reduced maximal inspiratory pressure"} {"id":"HP:0012497","name":"Reduced maximal expiratory pressure"} {"id":"HP:0012498","name":"Nuchal cord"} {"id":"HP:0012499","name":"Descending aortic dissection"} {"id":"HP:0012500","name":"Verrucous papule"} {"id":"HP:0012501","name":"Abnormality of the brainstem white matter"} {"id":"HP:0012502","name":"Abnormality of the internal capsule"} {"id":"HP:0012503","name":"Abnormality of the pituitary gland"} {"id":"HP:0012504","name":"Abnormal size of pituitary gland"} {"id":"HP:0012505","name":"Enlarged pituitary gland"} {"id":"HP:0012506","name":"Small pituitary gland"} {"id":"HP:0012507","name":"Weakness of orbicularis oculi muscle"} {"id":"HP:0012508","name":"Metamorphopsia"} {"id":"HP:0012509","name":"Reduced thyroxin-binding globulin"} {"id":"HP:0012510","name":"Extra-axial cerebrospinal fluid accumulation"} {"id":"HP:0012511","name":"Temporal optic disc pallor"} {"id":"HP:0012512","name":"Diffuse optic disc pallor"} {"id":"HP:0012513","name":"Upper limb pain"} {"id":"HP:0012514","name":"Lower limb pain"} {"id":"HP:0012515","name":"Hip flexor weakness"} {"id":"HP:0012516","name":"Tetralogy of Fallot with pulmonary atresia"} {"id":"HP:0012517","name":"Reduced catalase activity"} {"id":"HP:0012518","name":"Abnormality of circle of Willis"} {"id":"HP:0012519","name":"Hypoplastic posterior communicating artery"} {"id":"HP:0012520","name":"Perivascular spaces"} {"id":"HP:0012521","name":"Optic nerve aplasia"} {"id":"HP:0012522","name":"Spider hemangioma"} {"id":"HP:0012523","name":"Oral aversion"} {"id":"HP:0012524","name":"Abnormal platelet shape"} {"id":"HP:0012525","name":"Abnormal alpha granule distribution"} {"id":"HP:0012526","name":"Absence of alpha granules"} {"id":"HP:0012527","name":"Abnormal alpha granule content"} {"id":"HP:0012528","name":"Abnormal number of alpha granules"} {"id":"HP:0012529","name":"Abnormal dense granule content"} {"id":"HP:0012530","name":"Abnormal number of dense granules"} {"id":"HP:0012531","name":"Pain"} {"id":"HP:0012532","name":"Chronic pain"} {"id":"HP:0012533","name":"Allodynia"} {"id":"HP:0012534","name":"Dysesthesia"} {"id":"HP:0012535","name":"Abnormal synaptic transmission"} {"id":"HP:0012536","name":"Maternal anticardiolipin antibody positive"} {"id":"HP:0012537","name":"Food intolerance"} {"id":"HP:0012538","name":"Gluten intolerance"} {"id":"HP:0012539","name":"Non-Hodgkin lymphoma"} {"id":"HP:0012540","name":"Axillary epidermoid cyst"} {"id":"HP:0012541","name":"Cephalohematoma"} {"id":"HP:0012542","name":"Onychauxis"} {"id":"HP:0012543","name":"Hemosiderinuria"} {"id":"HP:0012544","name":"Elevated aldolase level"} {"id":"HP:0012545","name":"Reduced aldolase level"} {"id":"HP:0012546","name":"Skewed maternal X inactivation"} {"id":"HP:0012547","name":"Abnormal involuntary eye movements"} {"id":"HP:0012548","name":"Fatty replacement of skeletal muscle"} {"id":"HP:0012549","name":"Conjunctival lipoma"} {"id":"HP:0012550","name":"Colonic varices"} {"id":"HP:0012551","name":"Absent neutrophil specific granules"} {"id":"HP:0012552","name":"Increased neutrophil nuclear projections"} {"id":"HP:0012553","name":"Hypoplastic thumbnail"} {"id":"HP:0012554","name":"Absent thumbnail"} {"id":"HP:0012555","name":"Absent nail of hallux"} {"id":"HP:0012556","name":"Hyperbetaalaninemia"} {"id":"HP:0012557","name":"EEG with centrotemporal focal spike waves"} {"id":"HP:0012558","name":"Abnormal T3/T4 ratio"} {"id":"HP:0012559","name":"Increased T3/T4 ratio"} {"id":"HP:0012560","name":"Decreased T3/T4 ratio"} {"id":"HP:0012561","name":"Unicuspid aortic valve"} {"id":"HP:0012562","name":"Premature epimetaphyseal fusion in hand"} {"id":"HP:0012563","name":"Premature epimetaphyseal fusion in foot"} {"id":"HP:0012564","name":"Premature epimetaphyseal fusion in tibia"} {"id":"HP:0012565","name":"Premature epimetaphyseal fusion in fibula"} {"id":"HP:0012566","name":"Premature epimetaphyseal fusion in radius"} {"id":"HP:0012567","name":"Premature epimetaphyseal fusion in ulna"} {"id":"HP:0012568","name":"Lower eyelid edema"} {"id":"HP:0012569","name":"Delayed menarche"} {"id":"HP:0012570","name":"Synovial sarcoma"} {"id":"HP:0012571","name":"Ureter fissus"} {"id":"HP:0012572","name":"Ureter duplex"} {"id":"HP:0012573","name":"Global proximal tubulopathy"} {"id":"HP:0012574","name":"Mesangial proliferation"} {"id":"HP:0012575","name":"Abnormality of the nephron"} {"id":"HP:0012576","name":"C3 nephropathy"} {"id":"HP:0012577","name":"Thin glomerular basement membrane"} {"id":"HP:0012578","name":"Membranous nephropathy"} {"id":"HP:0012579","name":"Minimal change glomerulonephritis"} {"id":"HP:0012580","name":"Calcium phosphate nephrolithiasis"} {"id":"HP:0012581","name":"Solitary renal cyst"} {"id":"HP:0012582","name":"Bilateral renal dysplasia"} {"id":"HP:0012583","name":"Unilateral renal hypoplasia"} {"id":"HP:0012584","name":"Bilateral renal hypoplasia"} {"id":"HP:0012585","name":"Renal atrophy"} {"id":"HP:0012586","name":"Bilateral renal atrophy"} {"id":"HP:0012587","name":"Macroscopic hematuria"} {"id":"HP:0012588","name":"Steroid-resistant nephrotic syndrome"} {"id":"HP:0012589","name":"Multidrug-resistant nephrotic syndrome"} {"id":"HP:0012590","name":"Abnormal urine output"} {"id":"HP:0012591","name":"Abnormal urinary electrolyte concentration"} {"id":"HP:0012592","name":"Albuminuria"} {"id":"HP:0012593","name":"Nephrotic range proteinuria"} {"id":"HP:0012594","name":"Microalbuminuria"} {"id":"HP:0012595","name":"Mild proteinuria"} {"id":"HP:0012596","name":"Moderate proteinuria"} {"id":"HP:0012597","name":"Heavy proteinuria"} {"id":"HP:0012598","name":"Abnormal urine potassium concentration"} {"id":"HP:0012599","name":"Abnormal urine phosphate concentration"} {"id":"HP:0012600","name":"Abnormal urine chloride concentration"} {"id":"HP:0012601","name":"Hypochloriduria"} {"id":"HP:0012602","name":"Renal chloride wasting"} {"id":"HP:0012603","name":"Abnormal urine sodium concentration"} {"id":"HP:0012604","name":"Hyponatriuria"} {"id":"HP:0012605","name":"Hypernatriuria"} {"id":"HP:0012606","name":"Renal sodium wasting"} {"id":"HP:0012607","name":"Abnormal urine magnesium concentration"} {"id":"HP:0012608","name":"Hypermagnesiuria"} {"id":"HP:0012609","name":"Hypomagnesiuria"} {"id":"HP:0012610","name":"Abnormality of urinary uric acid concentration"} {"id":"HP:0012611","name":"Increased urinary urate"} {"id":"HP:0012612","name":"Abnormal urinary sulfate concentration"} {"id":"HP:0012613","name":"Increased urinary sulfate"} {"id":"HP:0012614","name":"Abnormal urine cytology"} {"id":"HP:0012615","name":"Cylindruria"} {"id":"HP:0012616","name":"Leukocyte cylindruria"} {"id":"HP:0012617","name":"Erythrocyte cylindruria"} {"id":"HP:0012618","name":"Urachal cyst"} {"id":"HP:0012619","name":"Multiple bladder diverticula"} {"id":"HP:0012620","name":"Cloacal abnormality"} {"id":"HP:0012621","name":"Persistent cloaca"} {"id":"HP:0012622","name":"Chronic kidney disease"} {"id":"HP:0012623","name":"Stage 1 chronic kidney disease"} {"id":"HP:0012624","name":"Stage 2 chronic kidney disease"} {"id":"HP:0012625","name":"Stage 3 chronic kidney disease"} {"id":"HP:0012626","name":"Stage 4 chronic kidney disease"} {"id":"HP:0012627","name":"Pseudoexfoliation"} {"id":"HP:0012628","name":"Abnormality of the suspensory ligament of lens"} {"id":"HP:0012629","name":"Phacodonesis"} {"id":"HP:0012630","name":"Abnormality of the trabecular meshwork"} {"id":"HP:0012631","name":"Pigment deposition in the trabecular meshwork"} {"id":"HP:0012632","name":"Abnormal intraocular pressure"} {"id":"HP:0012633","name":"Asymmetry of intraocular pressure"} {"id":"HP:0012634","name":"Iris pigment dispersion"} {"id":"HP:0012635","name":"Iris hypoperfusion"} {"id":"HP:0012636","name":"Retinal vein occlusion"} {"id":"HP:0012637","name":"Renal calcium wasting"} {"id":"HP:0012638","name":"Abnormality of nervous system physiology"} {"id":"HP:0012639","name":"Abnormality of nervous system morphology"} {"id":"HP:0012640","name":"Abnormality of intracranial pressure"} {"id":"HP:0012641","name":"Decreased intracranial pressure"} {"id":"HP:0012642","name":"Cerebellar agenesis"} {"id":"HP:0012643","name":"Foveal hypopigmentation"} {"id":"HP:0012644","name":"Increased caudate lactate level"} {"id":"HP:0012645","name":"Enlarged peripheral nerve"} {"id":"HP:0012646","name":"Retractile testis"} {"id":"HP:0012647","name":"Abnormal inflammatory response"} {"id":"HP:0012648","name":"Decreased inflammatory response"} {"id":"HP:0012649","name":"Increased inflammatory response"} {"id":"HP:0012650","name":"Perisylvian polymicrogyria"} {"id":"HP:0012651","name":"Abasia"} {"id":"HP:0012652","name":"Exercise-induced asthma"} {"id":"HP:0012653","name":"Status Asthmaticus"} {"id":"HP:0012654","name":"Abnormal CSF dopamine level"} {"id":"HP:0012655","name":"Elevated CSF dopamine level"} {"id":"HP:0012656","name":"Reduced CSF dopamine level"} {"id":"HP:0012657","name":"Abnormal brain positron emission tomography"} {"id":"HP:0012658","name":"Abnormal brain FDG positron emission tomography"} {"id":"HP:0012659","name":"Prefrontal hypometabolism in FDG PET"} {"id":"HP:0012660","name":"Thalamic hypometabolism in FDG PET"} {"id":"HP:0012661","name":"Hypothalamic hypometabolism in FDG PET"} {"id":"HP:0012662","name":"Parietal hypometabolism in FDG PET"} {"id":"HP:0012663","name":"Mildly reduced ejection fraction"} {"id":"HP:0012664","name":"Reduced ejection fraction"} {"id":"HP:0012665","name":"Moderately reduced ejection fraction"} {"id":"HP:0012666","name":"Severely reduced ejection fraction"} {"id":"HP:0012667","name":"Regional left ventricular wall motion abnormality"} {"id":"HP:0012668","name":"Vasovagal syncope"} {"id":"HP:0012669","name":"Carotid sinus syncope"} {"id":"HP:0012670","name":"Orthostatic syncope"} {"id":"HP:0012671","name":"Abulia"} {"id":"HP:0012672","name":"Akinetic mutism"} {"id":"HP:0012673","name":"Aplasia of the upper vagina"} {"id":"HP:0012674","name":"Aplasia of the lower vagina"} {"id":"HP:0012675","name":"Iron accumulation in brain"} {"id":"HP:0012676","name":"Copper accumulation in brain"} {"id":"HP:0012677","name":"Iron accumulation in globus pallidus"} {"id":"HP:0012678","name":"Iron accumulation in substantia nigra"} {"id":"HP:0012679","name":"Widened interpedicular distance"} {"id":"HP:0012680","name":"Abnormality of the pineal gland"} {"id":"HP:0012681","name":"Abnormality of pineal morphology"} {"id":"HP:0012682","name":"Pineal gland calcification"} {"id":"HP:0012683","name":"Pineal cyst"} {"id":"HP:0012684","name":"Abnormal pineal volume"} {"id":"HP:0012685","name":"Decreased pineal volume"} {"id":"HP:0012686","name":"Increased pineal volume"} {"id":"HP:0012687","name":"Agenesis of pineal gland"} {"id":"HP:0012688","name":"Abnormality of pineal physiology"} {"id":"HP:0012689","name":"Abnormal pineal melatonin secretion"} {"id":"HP:0012690","name":"T2 hypointense thalamus"} {"id":"HP:0012691","name":"Focal T2 hypointense thalamic lesion"} {"id":"HP:0012692","name":"Focal T2 hyperintense thalamic lesion"} {"id":"HP:0012693","name":"Abnormal thalamic size"} {"id":"HP:0012694","name":"Enlarged thalamic volume"} {"id":"HP:0012695","name":"Decreased thalamic volume"} {"id":"HP:0012696","name":"Abnormal thalamic MRI signal intensity"} {"id":"HP:0012697","name":"Small basal ganglia"} {"id":"HP:0012698","name":"Cerebellar gliosis"} {"id":"HP:0012699","name":"Anomaly of lower limb diaphyses"} {"id":"HP:0012700","name":"Abnormal large intestine physiology"} {"id":"HP:0012701","name":"Bowel urgency"} {"id":"HP:0012702","name":"Tenesmus"} {"id":"HP:0012703","name":"Abnormality of the subarachnoid space"} {"id":"HP:0012704","name":"Widened subarachnoid space"} {"id":"HP:0012705","name":"Abnormal metabolic brain imaging by MRS"} {"id":"HP:0012706","name":"Elevated brain choline level by MRS"} {"id":"HP:0012707","name":"Elevated brain lactate level by MRS"} {"id":"HP:0012708","name":"Reduced brain N-acetyl aspartate level by MRS"} {"id":"HP:0012709","name":"Abnormal brain choline/creatine ratio by MRS"} {"id":"HP:0012710","name":"Ingrown nail"} {"id":"HP:0012711","name":"Delayed ossification of vertebral epiphysis"} {"id":"HP:0012712","name":"Mild hearing impairment"} {"id":"HP:0012713","name":"Moderate hearing impairment"} {"id":"HP:0012714","name":"Severe hearing impairment"} {"id":"HP:0012715","name":"Profound hearing impairment"} {"id":"HP:0012716","name":"Moderate conductive hearing impairment"} {"id":"HP:0012717","name":"Severe conductive hearing impairment"} {"id":"HP:0012718","name":"Morphological abnormality of the gastrointestinal tract"} {"id":"HP:0012719","name":"Functional abnormality of the gastrointestinal tract"} {"id":"HP:0012720","name":"Neoplasm of the nose"} {"id":"HP:0012721","name":"Venous malformation"} {"id":"HP:0012722","name":"Heart block"} {"id":"HP:0012723","name":"Sinoatrial block"} {"id":"HP:0012724","name":"Upper eyelid edema"} {"id":"HP:0012725","name":"Cutaneous syndactyly"} {"id":"HP:0012726","name":"Episodic hypokalemia"} {"id":"HP:0012727","name":"Thoracic aortic aneurysm"} {"id":"HP:0012728","name":"Fusiform descending thoracic aortic aneurysm"} {"id":"HP:0012729","name":"Saccular descending thoracic aortic aneurysm"} {"id":"HP:0012730","name":"Aglossia"} {"id":"HP:0012731","name":"Ectopic anterior pituitary gland"} {"id":"HP:0012732","name":"Anorectal anomaly"} {"id":"HP:0012733","name":"Macule"} {"id":"HP:0012734","name":"Ketotic hypoglycemia"} {"id":"HP:0012735","name":"Cough"} {"id":"HP:0012736","name":"Profound global developmental delay"} {"id":"HP:0012737","name":"Small intestinal polyp"} {"id":"HP:0012738","name":"Agenesis of canine"} {"id":"HP:0012739","name":"Agenesis of the small intestine"} {"id":"HP:0012740","name":"Papilloma"} {"id":"HP:0012741","name":"Unilateral cryptorchidism"} {"id":"HP:0012742","name":"Thin fingernail"} {"id":"HP:0012743","name":"Abdominal obesity"} {"id":"HP:0012744","name":"Femoral aplasia"} {"id":"HP:0012745","name":"Short palpebral fissure"} {"id":"HP:0012746","name":"Thin toenail"} {"id":"HP:0012747","name":"Abnormal brainstem MRI signal intensity"} {"id":"HP:0012748","name":"Focal T2 hyperintense brainstem lesion"} {"id":"HP:0012749","name":"Focal T2 hypointense brainstem lesion"} {"id":"HP:0012750","name":"T2 hypointense brainstem"} {"id":"HP:0012751","name":"Abnormal basal ganglia MRI signal intensity"} {"id":"HP:0012752","name":"Focal T2 hypointense basal ganglia lesion"} {"id":"HP:0012753","name":"T2 hypointense basal ganglia"} {"id":"HP:0012754","name":"CNS hypermyelination"} {"id":"HP:0012755","name":"Enlarged brainstem"} {"id":"HP:0012756","name":"CSF polymorphonuclear pleocytosis"} {"id":"HP:0012757","name":"Abnormal neuron morphology"} {"id":"HP:0012758","name":"Neurodevelopmental delay"} {"id":"HP:0012759","name":"Neurodevelopmental abnormality"} {"id":"HP:0012760","name":"Impaired social reciprocity"} {"id":"HP:0012761","name":"Absent mastoid"} {"id":"HP:0012762","name":"Cerebral white matter atrophy"} {"id":"HP:0012763","name":"Paroxysmal dyspnea"} {"id":"HP:0012764","name":"Orthopnea"} {"id":"HP:0012765","name":"Widened cerebellar subarachnoid space"} {"id":"HP:0012766","name":"Widened cerebral subarachnoid space"} {"id":"HP:0012767","name":"Abnormal placental size"} {"id":"HP:0012768","name":"Neonatal asphyxia"} {"id":"HP:0012769","name":"Abnormal arm span"} {"id":"HP:0012770","name":"Reduced arm span"} {"id":"HP:0012771","name":"Increased arm span"} {"id":"HP:0012772","name":"Abnormal upper to lower segment ratio"} {"id":"HP:0012773","name":"Reduced upper to lower segment ratio"} {"id":"HP:0012774","name":"Increased upper to lower segment ratio"} {"id":"HP:0012775","name":"Stellate iris"} {"id":"HP:0012776","name":"Abnormality of the ciliary body"} {"id":"HP:0012777","name":"Retinal neoplasm"} {"id":"HP:0012778","name":"Retinal astrocytic hamartoma"} {"id":"HP:0012779","name":"Transient hearing impairment"} {"id":"HP:0012780","name":"Neoplasm of the ear"} {"id":"HP:0012781","name":"Mid-frequency hearing loss"} {"id":"HP:0012782","name":"Perilobar nephrogenic rest"} {"id":"HP:0012783","name":"Intralobar nephrogenic rest"} {"id":"HP:0012784","name":"Perinephritis"} {"id":"HP:0012785","name":"Flexion contracture of finger"} {"id":"HP:0012786","name":"Recurrent cystitis"} {"id":"HP:0012787","name":"Recurrent pyelonephritis"} {"id":"HP:0012788","name":"Reticulate pigmentation of oral mucosa"} {"id":"HP:0012789","name":"Hypoplasia of the calcaneus"} {"id":"HP:0012790","name":"Abnormal intramembranous ossification"} {"id":"HP:0012791","name":"Abnormal humeral ossification"} {"id":"HP:0012792","name":"Absent ossification of thoracic vertebral bodies"} {"id":"HP:0012793","name":"Kinked brainstem"} {"id":"HP:0012794","name":"Periventricular white matter hypodensities"} {"id":"HP:0012795","name":"Abnormality of the optic disc"} {"id":"HP:0012796","name":"Increased cup-to-disc ratio"} {"id":"HP:0012797","name":"Lymphatic vessel neoplasm"} {"id":"HP:0012798","name":"Pulmonary lymphangiomyomatosis"} {"id":"HP:0012799","name":"Unilateral facial palsy"} {"id":"HP:0012800","name":"Accessory cranial suture"} {"id":"HP:0012801","name":"Narrow jaw"} {"id":"HP:0012802","name":"Broad jaw"} {"id":"HP:0012803","name":"Anisometropia"} {"id":"HP:0012804","name":"Corneal ulceration"} {"id":"HP:0012805","name":"Iris transillumination defect"} {"id":"HP:0012806","name":"Proboscis"} {"id":"HP:0012807","name":"High insertion of columella"} {"id":"HP:0012808","name":"Abnormal nasal base"} {"id":"HP:0012809","name":"Narrow nasal base"} {"id":"HP:0012810","name":"Wide nasal base"} {"id":"HP:0012811","name":"Wide nasal ridge"} {"id":"HP:0012812","name":"Fullness of paranasal tissue"} {"id":"HP:0012813","name":"Unilateral breast hypoplasia"} {"id":"HP:0012814","name":"Bilateral breast hypoplasia"} {"id":"HP:0012815","name":"Hypoplastic female external genitalia"} {"id":"HP:0012816","name":"Right ventricular noncompaction cardiomyopathy"} {"id":"HP:0012817","name":"Noncompaction cardiomyopathy"} {"id":"HP:0012818","name":"Biventricular noncompaction cardiomyopathy"} {"id":"HP:0012819","name":"Myocarditis"} {"id":"HP:0012820","name":"Bilateral vocal cord paralysis"} {"id":"HP:0012821","name":"Unilateral vocal cord paresis"} {"id":"HP:0012822","name":"Bilateral vocal cord paresis"} {"id":"HP:0012841","name":"Retinal vascular tortuosity"} {"id":"HP:0012842","name":"Skin adnexal neoplasm"} {"id":"HP:0012843","name":"Hair follicle neoplasm"} {"id":"HP:0012844","name":"Trichilemmoma"} {"id":"HP:0012845","name":"Single trichilemmoma"} {"id":"HP:0012846","name":"Multiple trichilemmomata"} {"id":"HP:0012847","name":"Epilepsia partialis continua"} {"id":"HP:0012848","name":"Small intestinal stenosis"} {"id":"HP:0012849","name":"Small intestinal bleeding"} {"id":"HP:0012850","name":"Small intestinal dysmotility"} {"id":"HP:0012851","name":"Colonic stenosis"} {"id":"HP:0012852","name":"Hepatic bridging fibrosis"} {"id":"HP:0012853","name":"Scrotal hypospadias"} {"id":"HP:0012854","name":"Midshaft hypospadias"} {"id":"HP:0012855","name":"Scrotal hyperpigmentation"} {"id":"HP:0012856","name":"Abnormal scrotal rugation"} {"id":"HP:0012857","name":"Increased scrotal rugation"} {"id":"HP:0012858","name":"Decreased scrotal rugation"} {"id":"HP:0012859","name":"Esophageal leukoplakia"} {"id":"HP:0012860","name":"Testicular fibrosis"} {"id":"HP:0012861","name":"Ovotestis"} {"id":"HP:0012862","name":"Abnormal germ cell morphology"} {"id":"HP:0012863","name":"Abnormal male germ cell morphology"} {"id":"HP:0012864","name":"Abnormal sperm morphology"} {"id":"HP:0012865","name":"Sperm head anomaly"} {"id":"HP:0012866","name":"Sperm neck anomaly"} {"id":"HP:0012867","name":"Sperm mid-piece anomaly"} {"id":"HP:0012868","name":"Sperm tail anomaly"} {"id":"HP:0012869","name":"Acephalic spermatozoa"} {"id":"HP:0012870","name":"Vanishing testis"} {"id":"HP:0012871","name":"Varicocele"} {"id":"HP:0012872","name":"Abnormal vas deferens morphology"} {"id":"HP:0012873","name":"Absent vas deferens"} {"id":"HP:0012874","name":"Abnormal male reproductive system physiology"} {"id":"HP:0012875","name":"Abnormal ejaculation"} {"id":"HP:0012876","name":"Premature ejaculation"} {"id":"HP:0012877","name":"Retrograde ejaculation"} {"id":"HP:0012878","name":"Retarded ejaculation"} {"id":"HP:0012879","name":"Anejaculation"} {"id":"HP:0012880","name":"Abnormality of the labia minora"} {"id":"HP:0012881","name":"Abnormality of the labia majora"} {"id":"HP:0012882","name":"Hyperplastic labia majora"} {"id":"HP:0012883","name":"Fallopian tube cyst"} {"id":"HP:0012884","name":"Fallopian tube torsion"} {"id":"HP:0012885","name":"Fallopian tube duplication"} {"id":"HP:0012886","name":"Hemorrhagic ovarian cyst"} {"id":"HP:0012887","name":"Ovarian serous cystadenoma"} {"id":"HP:0012888","name":"Abnormality of the uterine cervix"} {"id":"HP:0012889","name":"Cervical endometriosis"} {"id":"HP:0012890","name":"Posteriorly placed anus"} {"id":"HP:0012891","name":"High posterior hairline"} {"id":"HP:0012892","name":"Facial muscle hypertrophy"} {"id":"HP:0012893","name":"Neck muscle hypertrophy"} {"id":"HP:0012894","name":"Paraspinal muscle hypertrophy"} {"id":"HP:0012895","name":"Scapular muscle hypertrophy"} {"id":"HP:0012896","name":"Abnormal motor evoked potentials"} {"id":"HP:0012897","name":"Abnormal upper-limb motor evoked potentials"} {"id":"HP:0012898","name":"Abnormal lower-limb motor evoked potentials"} {"id":"HP:0012899","name":"Handgrip myotonia"} {"id":"HP:0012900","name":"Myotonia of the face"} {"id":"HP:0012901","name":"Myotonia of the jaw"} {"id":"HP:0012902","name":"Myotonia of the lower limb"} {"id":"HP:0012903","name":"Myotonia of the upper limb"} {"id":"HP:0012904","name":"Cold-sensitive myotonia"} {"id":"HP:0012905","name":"Euryblepharon"} {"id":"HP:0030000","name":"EMG: Repetitive nerve stimulation abnormality"} {"id":"HP:0030001","name":"Lagopthalmos"} {"id":"HP:0030002","name":"Nocturnal lagophthalmos"} {"id":"HP:0030003","name":"Paralytic lagophthalmos"} {"id":"HP:0030004","name":"Cicatricial lagophthalmos"} {"id":"HP:0030005","name":"Capillary leak"} {"id":"HP:0030006","name":"Single fiber EMG abnormality"} {"id":"HP:0030007","name":"EMG: Positive sharp waves"} {"id":"HP:0030008","name":"Cervical agenesis"} {"id":"HP:0030009","name":"Cervical insufficiency"} {"id":"HP:0030010","name":"Hydrometrocolpos"} {"id":"HP:0030011","name":"Imperforate hymen"} {"id":"HP:0030012","name":"Abnormal female reproductive system physiology"} {"id":"HP:0030014","name":"Female sexual dysfunction"} {"id":"HP:0030015","name":"Female anorgasmia"} {"id":"HP:0030016","name":"Dyspareunia"} {"id":"HP:0030017","name":"Vaginismus"} {"id":"HP:0030018","name":"Decreased female libido"} {"id":"HP:0030019","name":"Increased female libido"} {"id":"HP:0030021","name":"Auricular tag"} {"id":"HP:0030022","name":"Question mark ear"} {"id":"HP:0030023","name":"Quelprud Nodule"} {"id":"HP:0030024","name":"Pretragal ectopia"} {"id":"HP:0030025","name":"Auricular pit"} {"id":"HP:0030026","name":"Squared superior portion of helix"} {"id":"HP:0030027","name":"Abnormality of the nasal cartilage"} {"id":"HP:0030028","name":"Absent nasal cartilage"} {"id":"HP:0030029","name":"Splayed fingers"} {"id":"HP:0030030","name":"Absent ray"} {"id":"HP:0030031","name":"Small toe"} {"id":"HP:0030032","name":"Partial absence of foot"} {"id":"HP:0030033","name":"Small finger"} {"id":"HP:0030034","name":"Diffuse glomerular basement membrane lamellation"} {"id":"HP:0030035","name":"Struvite nephrolithiasis"} {"id":"HP:0030036","name":"Isothenuria"} {"id":"HP:0030037","name":"Bifid ureter"} {"id":"HP:0030038","name":"Enchondroma"} {"id":"HP:0030039","name":"Fused thoracic vertebrae"} {"id":"HP:0030040","name":"Fused lumbar vertebrae"} {"id":"HP:0030041","name":"Schmorl's node"} {"id":"HP:0030042","name":"Incomplete ossification of pubis"} {"id":"HP:0030043","name":"Hip Subluxation"} {"id":"HP:0030044","name":"Flexion contracture of digit"} {"id":"HP:0030045","name":"Serpentine fibula"} {"id":"HP:0030046","name":"Hypoglycosylation of alpha-dystroglycan"} {"id":"HP:0030047","name":"Abnormality of lateral ventricle"} {"id":"HP:0030048","name":"Colpocephaly"} {"id":"HP:0030049","name":"Brain abscess"} {"id":"HP:0030050","name":"Narcolepsy"} {"id":"HP:0030051","name":"Tip-toe gait"} {"id":"HP:0030052","name":"Inguinal freckling"} {"id":"HP:0030053","name":"Stiff skin"} {"id":"HP:0030054","name":"Perifollicular fibrosis"} {"id":"HP:0030055","name":"Hyperconvex toenail"} {"id":"HP:0030056","name":"Uncombable hair"} {"id":"HP:0030057","name":"Autoimmune antibody positivity"} {"id":"HP:0030058","name":"Sickled erythrocytes"} {"id":"HP:0030059","name":"Mitochondrial depletion"} {"id":"HP:0030060","name":"Nervous tissue neoplasm"} {"id":"HP:0030061","name":"Neuroectodermal neoplasm"} {"id":"HP:0030062","name":"Craniopharyngioma"} {"id":"HP:0030063","name":"Neuroepithelial neoplasm"} {"id":"HP:0030064","name":"Neurocytoma"} {"id":"HP:0030065","name":"Primitive neuroectodermal tumor"} {"id":"HP:0030066","name":"Ependymoblastoma"} {"id":"HP:0030067","name":"Peripheral primitive neuroectodermal neoplasm"} {"id":"HP:0030068","name":"Olfactory esthesioneuroblastoma"} {"id":"HP:0030069","name":"Primary central nervous system lymphoma"} {"id":"HP:0030070","name":"Central primitive neuroectodermal tumor"} {"id":"HP:0030071","name":"Medulloepithelioma"} {"id":"HP:0030072","name":"Paranasal sinus neoplasm"} {"id":"HP:0030074","name":"Chemodectoma"} {"id":"HP:0030075","name":"Ductal carcinoma in situ"} {"id":"HP:0030076","name":"Lobular carcinoma in situ"} {"id":"HP:0030077","name":"Bronchial neoplasm"} {"id":"HP:0030078","name":"Lung adenocarcinoma"} {"id":"HP:0030079","name":"Cervix cancer"} {"id":"HP:0030080","name":"Burkitt lymphoma"} {"id":"HP:0030081","name":"Punctate periventricular T2 hyperintense foci"} {"id":"HP:0030082","name":"Abnormal drinking behavior"} {"id":"HP:0030083","name":"Salt craving"} {"id":"HP:0030084","name":"Clinodactyly"} {"id":"HP:0030085","name":"Abnormal CSF lactate level"} {"id":"HP:0030086","name":"Reduced CSF lactate"} {"id":"HP:0030087","name":"Abnormal testosterone level"} {"id":"HP:0030088","name":"Increased testosterone"} {"id":"HP:0030089","name":"Abnormal muscle fiber protein expression"} {"id":"HP:0030090","name":"Abnormal muscle fiber merosin expression"} {"id":"HP:0030091","name":"Absent muscle fiber merosin"} {"id":"HP:0030092","name":"Reduced muscle fiber merosin"} {"id":"HP:0030093","name":"Abnormal muscle fiber laminin beta 1"} {"id":"HP:0030094","name":"Reduced muscle fiber laminin beta 1"} {"id":"HP:0030095","name":"Reduced muscle collagen VI"} {"id":"HP:0030096","name":"Abnormal muscle fiber dystrophin expression"} {"id":"HP:0030097","name":"Absent muscle dystrophin expression"} {"id":"HP:0030098","name":"Reduced muscle dystrophin expression"} {"id":"HP:0030099","name":"Reduced muscle fiber alpha dystroglycan"} {"id":"HP:0030100","name":"Abnormal muscle fiber alpha sarcoglycan"} {"id":"HP:0030101","name":"Absent muscle fiber alpha sarcoglycan"} {"id":"HP:0030102","name":"Reduced muscle fiber alpha sarcoglycan"} {"id":"HP:0030103","name":"Abnormal muscle fiber beta sarcoglycan"} {"id":"HP:0030104","name":"Abnormal muscle fiber gamma sarcoglycan"} {"id":"HP:0030105","name":"Abnormal muscle fiber delta sarcoglycan"} {"id":"HP:0030106","name":"Absent muscle fiber beta sarcoglyan"} {"id":"HP:0030107","name":"Reduced muscle fiber beta sarcoglycan"} {"id":"HP:0030108","name":"Reduced muscle fiber gamma sarcoglycan"} {"id":"HP:0030109","name":"Absent muscle fiber gamma sarcoglycan"} {"id":"HP:0030110","name":"Absent muscle fiber delta sarcoglycan"} {"id":"HP:0030111","name":"Reduced muscle fiber delta sarcoglycan"} {"id":"HP:0030112","name":"Abnormal muscle fiber alpha dystroglycan"} {"id":"HP:0030113","name":"Abnormal muscle fiber dysferlin"} {"id":"HP:0030114","name":"Absent muscle fiber dysferlin"} {"id":"HP:0030115","name":"Reduced muscle fiber dysferlin"} {"id":"HP:0030116","name":"Abnormal muscle fiber emerin"} {"id":"HP:0030117","name":"Absent muscle fiber emerin"} {"id":"HP:0030118","name":"Reduced muscle fiber emerin"} {"id":"HP:0030119","name":"Abnormal muscle fiber calpain-3"} {"id":"HP:0030120","name":"Absent muscle fiber calpain-3"} {"id":"HP:0030121","name":"Reduced muscle fiber calpain-3"} {"id":"HP:0030122","name":"Reduced muscle fiber perlecan"} {"id":"HP:0030123","name":"Abnormal muscle fiber lamin A/C"} {"id":"HP:0030124","name":"Reduced muscle fiber lamin A/C"} {"id":"HP:0030125","name":"Sacralization of the fifth lumbar vertebra"} {"id":"HP:0030126","name":"Abnormality of the endometrium"} {"id":"HP:0030127","name":"Endometriosis"} {"id":"HP:0030129","name":"Impaired ristocetin cofactor assay activity"} {"id":"HP:0030130","name":"Impaired von Willibrand factor collagen binding activity"} {"id":"HP:0030131","name":"Abnormal von Willebrand Factor multimer distribution"} {"id":"HP:0030132","name":"Absence of large von Willibrand factor multimers"} {"id":"HP:0030133","name":"Abnormal presence of ultra-large von Willebrand Factor multimers"} {"id":"HP:0030134","name":"Total absence von Willebrand Factor multimers"} {"id":"HP:0030135","name":"Absence of intermediate von Willibrand factor multimers"} {"id":"HP:0030136","name":"Enhanced ristocetin cofactor assay activity"} {"id":"HP:0030137","name":"Prolonged bleeding following circumcision"} {"id":"HP:0030138","name":"Excessive bleeding from superficial cuts"} {"id":"HP:0030139","name":"Excessive bleeding after a venipuncture"} {"id":"HP:0030140","name":"Oral cavity bleeding"} {"id":"HP:0030141","name":"Abnormality of the posterior hairline"} {"id":"HP:0030142","name":"Abnormal bowel sounds"} {"id":"HP:0030143","name":"Hyperactive bowel sounds"} {"id":"HP:0030144","name":"Hypoactive bowel sounds"} {"id":"HP:0030145","name":"Lack of bowel sounds"} {"id":"HP:0030146","name":"Abnormal liver parenchyma morphology"} {"id":"HP:0030147","name":"Truncal titubation"} {"id":"HP:0030148","name":"Heart murmur"} {"id":"HP:0030149","name":"Cardiogenic shock"} {"id":"HP:0030150","name":"Plasmacytosis"} {"id":"HP:0030151","name":"Cholangitis"} {"id":"HP:0030153","name":"Cholangiocarcinoma"} {"id":"HP:0030154","name":"Gallbladder perforation"} {"id":"HP:0030155","name":"Scrotal pain"} {"id":"HP:0030156","name":"Bence Jones Proteinuria"} {"id":"HP:0030157","name":"Flank pain"} {"id":"HP:0030158","name":"Cervical ectropion"} {"id":"HP:0030159","name":"Cervical polyp"} {"id":"HP:0030160","name":"Cervicitis"} {"id":"HP:0030161","name":"Vaginal pruritus"} {"id":"HP:0030162","name":"Glomerulomegaly"} {"id":"HP:0030163","name":"Abnormal vascular physiology"} {"id":"HP:0030164","name":"Jaw claudication"} {"id":"HP:0030165","name":"Temporal artery tortuosity"} {"id":"HP:0030166","name":"Night sweats"} {"id":"HP:0030167","name":"Antimitochondrial antibody positivity"} {"id":"HP:0030168","name":"Dilated superficial abdominal veins"} {"id":"HP:0030169","name":"Gastric varix"} {"id":"HP:0030170","name":"Cystic artery pseudoaneurysm"} {"id":"HP:0030171","name":"Perirenal hematoma"} {"id":"HP:0030172","name":"Peripheral amyelination"} {"id":"HP:0030173","name":"Peripheral hypermyelination"} {"id":"HP:0030174","name":"Increased peripheral myelin thickness"} {"id":"HP:0030175","name":"Myelin tomacula"} {"id":"HP:0030176","name":"Asymmetric peripheral demyelination"} {"id":"HP:0030177","name":"Abnormality of peripheral nervous system electrophysiology"} {"id":"HP:0030178","name":"Abnormality of central nervous system electrophysiology"} {"id":"HP:0030179","name":"Abnormal peripheral action potential amplitude"} {"id":"HP:0030180","name":"Oppenheim reflex"} {"id":"HP:0030181","name":"Gordon reflex"} {"id":"HP:0030182","name":"Tetraplegia/tetraparesis"} {"id":"HP:0030183","name":"Impaired visually enhanced vestibulo-ocular reflex"} {"id":"HP:0030185","name":"Isometric tremor"} {"id":"HP:0030186","name":"Kinetic tremor"} {"id":"HP:0030187","name":"Titubation"} {"id":"HP:0030188","name":"Tremor by anatomical site"} {"id":"HP:0030190","name":"Oral motor hypotonia"} {"id":"HP:0030191","name":"Abnormal peripheral nervous system synaptic transmission"} {"id":"HP:0030192","name":"Fatigable weakness of bulbar muscles"} {"id":"HP:0030193","name":"Fatigable weakness of chewing muscles"} {"id":"HP:0030194","name":"Fatigable weakness of speech muscles"} {"id":"HP:0030195","name":"Fatigable weakness of swallowing muscles"} {"id":"HP:0030196","name":"Fatigable weakness of respiratory muscles"} {"id":"HP:0030197","name":"Fatigable weakness of skeletal muscles"} {"id":"HP:0030198","name":"Fatigable weakness of distal limb muscles"} {"id":"HP:0030199","name":"Fatigable weakness of neck muscles"} {"id":"HP:0030200","name":"Fatiguable weakness of proximal limb muscles"} {"id":"HP:0030201","name":"Response to drugs acting on neuromuscular transmission"} {"id":"HP:0030202","name":"Favorable response of weakness to acetylcholine esterase inhibitors"} {"id":"HP:0030203","name":"Unfavorable response of muscle weakness to acetylcholine esterase inhibitors"} {"id":"HP:0030205","name":"Increased jitter at single fibre EMG"} {"id":"HP:0030206","name":"EMG: incremental response of compound muscle action potential to repetitive nerve stimulation"} {"id":"HP:0030207","name":"Paradoxical respiration"} {"id":"HP:0030208","name":"Acetylcholine receptor antibody positivity"} {"id":"HP:0030209","name":"Calcium channel antibody positivity"} {"id":"HP:0030210","name":"Muscle specific kinase antibody positivity"} {"id":"HP:0030211","name":"Slow pupillary light response"} {"id":"HP:0030212","name":"Collectionism"} {"id":"HP:0030213","name":"Emotional blunting"} {"id":"HP:0030214","name":"Hypersexuality"} {"id":"HP:0030215","name":"Inappropriate crying"} {"id":"HP:0030216","name":"Inertia"} {"id":"HP:0030217","name":"Limb apraxia"} {"id":"HP:0030218","name":"Punding"} {"id":"HP:0030219","name":"Semantic dementia"} {"id":"HP:0030220","name":"Socially inappropriate behavior"} {"id":"HP:0030221","name":"Sweet craving"} {"id":"HP:0030222","name":"Visual agnosia"} {"id":"HP:0030223","name":"Perseveration"} {"id":"HP:0030224","name":"Abnormal muscle fiber desmin"} {"id":"HP:0030225","name":"Accumulation of muscle fiber desmin"} {"id":"HP:0030226","name":"Abnormal muscle fiber myotilin"} {"id":"HP:0030227","name":"Accumulation of muscle fiber myotilin"} {"id":"HP:0030228","name":"Abnormal muscle fiber valosin-containing protein"} {"id":"HP:0030229","name":"Accumulation of muscle fiber valosin-containing protein"} {"id":"HP:0030230","name":"Central core regions in muscle fibers"} {"id":"HP:0030231","name":"Glycogen accumulation in muscle fiber lysosomes"} {"id":"HP:0030232","name":"Increased sarcoplasmic glycogen"} {"id":"HP:0030233","name":"Bethlem sign"} {"id":"HP:0030234","name":"Highly elevated creatine phosphokinase"} {"id":"HP:0030235","name":"Extremely elevated creatine phosphokinase"} {"id":"HP:0030236","name":"Abnormality of muscle size"} {"id":"HP:0030237","name":"Hand muscle weakness"} {"id":"HP:0030239","name":"Hypoplasia of the upper arm musculature"} {"id":"HP:0030241","name":"Hypoplasia of deltoid muscle"} {"id":"HP:0030242","name":"Portal vein thrombosis"} {"id":"HP:0030243","name":"Hepatic vein thrombosis"} {"id":"HP:0030244","name":"Maternal fever in pregnancy"} {"id":"HP:0030245","name":"Intrapartum fever"} {"id":"HP:0030246","name":"Maternal first trimester fever"} {"id":"HP:0030247","name":"Splanchnic vein thrombosis"} {"id":"HP:0030248","name":"Mesenteric venous thrombosis"} {"id":"HP:0030249","name":"Enanthema"} {"id":"HP:0030250","name":"Pulmonary granulomatosis"} {"id":"HP:0030251","name":"Absence of memory B cells"} {"id":"HP:0030252","name":"Absence of mature B cells"} {"id":"HP:0030253","name":"Defective T cell proliferation"} {"id":"HP:0030254","name":"Nail bed hemorrhage"} {"id":"HP:0030255","name":"Large intestinal polyposis"} {"id":"HP:0030256","name":"Small intestinal polyposis"} {"id":"HP:0030257","name":"Freckled genitalia"} {"id":"HP:0030258","name":"Hyperpigmented genitalia"} {"id":"HP:0030259","name":"Hypopigmented genitalia"} {"id":"HP:0030260","name":"Microphallus"} {"id":"HP:0030261","name":"Absent penis"} {"id":"HP:0030262","name":"Narrow penis"} {"id":"HP:0030263","name":"Torsion of the penis"} {"id":"HP:0030264","name":"Webbed penis"} {"id":"HP:0030265","name":"Wide penis"} {"id":"HP:0030266","name":"Abnormality of the sacroiliac notch"} {"id":"HP:0030267","name":"Calcification of the interosseus membrane of the forearm"} {"id":"HP:0030268","name":"Hyperplastic callus formation"} {"id":"HP:0030269","name":"Increased serum Insulin-like growth factor 1"} {"id":"HP:0030270","name":"Elevated red cell adenosine deaminase activity"} {"id":"HP:0030271","name":"Reduced erythrocyte 2,3-diphosphoglycerate concentration"} {"id":"HP:0030272","name":"Abnormal erythrocyte enzyme activity"} {"id":"HP:0030273","name":"Reduced red cell adenosine deaminase activity"} {"id":"HP:0030274","name":"Accessory scrotum"} {"id":"HP:0030275","name":"Ectopic scrotum"} {"id":"HP:0030276","name":"Small scrotum"} {"id":"HP:0030277","name":"Abnormal vertebral pedicle morphology"} {"id":"HP:0030278","name":"Hypoplastic vertebral pedicle"} {"id":"HP:0030279","name":"Hypoplastic L5 vertebral pedicle"} {"id":"HP:0030280","name":"Rib gap"} {"id":"HP:0030281","name":"Cervical vertebral fusion (C3/C4)"} {"id":"HP:0030282","name":"Posterior rib gap"} {"id":"HP:0030283","name":"Partial absence of the septum pellucidum"} {"id":"HP:0030284","name":"Triangular tongue"} {"id":"HP:0030285","name":"Splayed superior cerebellar peduncle"} {"id":"HP:0030286","name":"Atrophic superior cerebellar peduncle"} {"id":"HP:0030289","name":"Flattened femoral epiphysis"} {"id":"HP:0030290","name":"Unossified sacrum"} {"id":"HP:0030291","name":"Lower-limb metaphyseal irregularity"} {"id":"HP:0030292","name":"Tibial metaphyseal irregularity"} {"id":"HP:0030293","name":"Fibular metaphyseal irregularity"} {"id":"HP:0030294","name":"Metaphyseal chondromatosis of tibia"} {"id":"HP:0030295","name":"Metaphyseal chondromatosis of femur"} {"id":"HP:0030296","name":"Metaphyseal chondromatosis of radius"} {"id":"HP:0030297","name":"Metaphyseal chondromatosis of ulna"} {"id":"HP:0030298","name":"Metaphyseal chondromatosis of humerus"} {"id":"HP:0030299","name":"Distal femoral metaphyseal abnormality"} {"id":"HP:0030300","name":"10 pairs of ribs"} {"id":"HP:0030301","name":"Abnormality of the anterior commissure"} {"id":"HP:0030302","name":"Agenesis of the anterior commissure"} {"id":"HP:0030303","name":"Hypoplastic anterior commissure"} {"id":"HP:0030304","name":"Abnormal number of vertebrae"} {"id":"HP:0030305","name":"Decreased number of vertebrae"} {"id":"HP:0030306","name":"11 thoracic vertebrae"} {"id":"HP:0030307","name":"Flared lower limb metaphysis"} {"id":"HP:0030308","name":"Flared distal tibial metaphysis"} {"id":"HP:0030309","name":"Flared distal fibular metaphysis"} {"id":"HP:0030310","name":"Upper extremity joint dislocation"} {"id":"HP:0030311","name":"Lower extremity joint dislocation"} {"id":"HP:0030312","name":"Obliteration of the calvarial diploe"} {"id":"HP:0030313","name":"Abnormal periosteum morphology"} {"id":"HP:0030314","name":"Periostosis"} {"id":"HP:0030318","name":"Angular cheilitis"} {"id":"HP:0030319","name":"Weakness of facial musculature"} {"id":"HP:0030320","name":"Increased intervertebral space"} {"id":"HP:0030321","name":"Abnormality of the vertebral artery"} {"id":"HP:0030322","name":"Vertebral artery hypoplasia"} {"id":"HP:0030323","name":"Unilateral vertebral artery hypoplasia"} {"id":"HP:0030324","name":"Bilateral vertebral artery hypoplasia"} {"id":"HP:0030325","name":"Cervicomedullary schisis"} {"id":"HP:0030326","name":"Abnormal macrophage count"} {"id":"HP:0030327","name":"Abnormal osteoclast count"} {"id":"HP:0030328","name":"Decreased osteoclast count"} {"id":"HP:0030329","name":"Retinal thinning"} {"id":"HP:0030330","name":"Multinucleated giant chondrocytes in epiphyseal cartilage"} {"id":"HP:0030331","name":"Impaired stimulus-induced skin wrinkling"} {"id":"HP:0030332","name":"Abnormal T cell morphology"} {"id":"HP:0030333","name":"Abnormal alpha-beta T cell morphology"} {"id":"HP:0030334","name":"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology"} {"id":"HP:0030335","name":"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count"} {"id":"HP:0030336","name":"Absence of CD4-positive, CD25-positive regulatory T cells"} {"id":"HP:0030337","name":"Elevated CD4-positive, CD25-positive regulatory T cell count"} {"id":"HP:0040004","name":"Abnormality of corneal shape"} {"id":"HP:0040007","name":"Absent pigmentation of chest"} {"id":"HP:0040008","name":"Aplasia of facial bones"} {"id":"HP:0040009","name":"Hyperparakeratosis"} {"id":"HP:0040010","name":"Small posterior fossa"} {"id":"HP:0040011","name":"Flat posterior fossa"} {"id":"HP:0040012","name":"Chromsome breakage"} {"id":"HP:0040013","name":"Decreased mitochondrial number"} {"id":"HP:0040014","name":"Increased mitochondrial number"} {"id":"HP:0040015","name":"Increased activity of mitochondrial respiratory chain"} {"id":"HP:0040016","name":"Prominent coccyx"} {"id":"HP:0040017","name":"Protruding coccyx"} {"id":"HP:0040018","name":"Clinodactyly of hallux"} {"id":"HP:0040019","name":"Finger clinodactyly"} {"id":"HP:0040020","name":"Radial deviation of the 5th finger"} {"id":"HP:0040021","name":"Radial deviation of the thumb"} {"id":"HP:0040022","name":"Clinodactyly of the 2nd finger"} {"id":"HP:0040023","name":"Clinodactyly of the thumb"} {"id":"HP:0040024","name":"Clinodactyly of the 3rd finger"} {"id":"HP:0040025","name":"Clinodactyly of the 4th finger"} {"id":"HP:0040030","name":"Chorioretinal hypopigmentation"} {"id":"HP:0040031","name":"Chorioretinal hyperpigmentation"} {"id":"HP:0040032","name":"Hypoplasia of the upper eyelids"} {"id":"HP:0040033","name":"Aplasia/Hypoplasia of the fifth metatarsal bone"} {"id":"HP:0040034","name":"Abnormality of the second metatarsal bone"} {"id":"HP:0040035","name":"Abnormality of the fourth metatarsal bone"} {"id":"HP:0040036","name":"Onychogryposis of fingernail"} {"id":"HP:0040039","name":"Onycholysis of fingernails"} {"id":"HP:0040040","name":"Onycholysis of toenails"} {"id":"HP:0040042","name":"Aplasia of the eccrine sweat glands"} {"id":"HP:0040043","name":"Hypoplasia of the eccrine sweat glands"} {"id":"HP:0040044","name":"Hypoplasia of the diaphragm"} {"id":"HP:0040045","name":"Abnormality of the hemidiaphragms"} {"id":"HP:0040046","name":"Abnormality of the left hemidiaphragm"} {"id":"HP:0040047","name":"Abnormality of the right hemidiaphragm"} {"id":"HP:0040048","name":"Aplasia of the left hemidiaphragm"} {"id":"HP:0040049","name":"Macular edema"} {"id":"HP:0040050","name":"Sparse upper eyelashes"} {"id":"HP:0040051","name":"Abnormality of upper eyelashes"} {"id":"HP:0040052","name":"Abnormality of lower eyelashes"} {"id":"HP:0040053","name":"Long lower eyelashes"} {"id":"HP:0040054","name":"Short upper eyelashes"} {"id":"HP:0040055","name":"Short lower eyelashes"} {"id":"HP:0040056","name":"Absent upper eyelashes"} {"id":"HP:0040057","name":"Abnormality of nasal hair"} {"id":"HP:0040059","name":"Calcification of ribs"} {"id":"HP:0040061","name":"Osteosclerosis of the radius"} {"id":"HP:0040062","name":"Slender radius"} {"id":"HP:0040063","name":"Decreased adipose tissue"} {"id":"HP:0040064","name":"Abnormality of limbs"} {"id":"HP:0040065","name":"Abnormal morphology of bones of the upper limbs"} {"id":"HP:0040066","name":"Abnormal morphology of bones of the lower limbs"} {"id":"HP:0040068","name":"Abnormality of limb bone"} {"id":"HP:0040069","name":"Abnormality of lower limb bone"} {"id":"HP:0040070","name":"Abnormality of upper limb bone"} {"id":"HP:0040071","name":"Abnormal morphology of ulna"} {"id":"HP:0040072","name":"Abnormality of forearm bone"} {"id":"HP:0040073","name":"Abnormal morphology of forearm bone"} {"id":"HP:0040075","name":"Hypopituitarism"} {"id":"HP:0040077","name":"Abnormal concentration of calcium in blood"} {"id":"HP:0040078","name":"Axonal degeneration"} {"id":"HP:0040079","name":"Irregular dentition"} {"id":"HP:0040080","name":"Anteverted ears"} {"id":"HP:0040081","name":"Abnormal levels of creatine kinase in blood"} {"id":"HP:0040082","name":"Happy demeanor"} {"id":"HP:0040083","name":"Toe walking"} {"id":"HP:0040084","name":"Abnormal circulating renin"} {"id":"HP:0040085","name":"Abnormal circulating aldosterone"} {"id":"HP:0040086","name":"Abnormal prolactin level"} {"id":"HP:0040087","name":"Abnormality of folate in blood"} {"id":"HP:0040088","name":"Abnormal lymphocyte count"} {"id":"HP:0040089","name":"Abnormality of natural killer cell number"} {"id":"HP:0040090","name":"Abnormality of the tympanic membrane"} {"id":"HP:0040091","name":"Asymmetry of the size of ears"} {"id":"HP:0040092","name":"Asymmetry of the shape of the ears"} {"id":"HP:0040093","name":"Asymmetry of the position of the ears"} {"id":"HP:0040095","name":"Neoplasm of the outer ear"} {"id":"HP:0040096","name":"Neoplasm of the inner ear"} {"id":"HP:0040097","name":"Neoplasm of the ceruminal gland"} {"id":"HP:0040098","name":"Basalioma of the outer ear"} {"id":"HP:0040099","name":"Abnormality of the round window"} {"id":"HP:0040100","name":"Abnormality of the vestibular window"} {"id":"HP:0040101","name":"Cutaneous atresia of the external auditory canal"} {"id":"HP:0040102","name":"Osseous atresia of the external auditory canal"} {"id":"HP:0040103","name":"Cutaneous stenosis of the external auditory canal"} {"id":"HP:0040104","name":"Osseous stenosis of the external auditory canal"} {"id":"HP:0040106","name":"Morphological abnormality of the lateral semicircular canal"} {"id":"HP:0040107","name":"Morphological abnormality of the posterior semicircular canal"} {"id":"HP:0040108","name":"Morphological abnormality of the anterior semicircular canal"} {"id":"HP:0040109","name":"Morphological abnormality of the utricle"} {"id":"HP:0040110","name":"Morphological abnormality of the saccule"} {"id":"HP:0040111","name":"Bilateral external ear deformity"} {"id":"HP:0040112","name":"Abnormal number of tubercles"} {"id":"HP:0040113","name":"Old-aged sensorineural hearing impairment"} {"id":"HP:0040114","name":"Absence of the reflex of the tensor tympani muscle"} {"id":"HP:0040115","name":"Abnormality of the Eustachian tube"} {"id":"HP:0040116","name":"Aplasia of the Eustachian tube"} {"id":"HP:0040117","name":"Atresia of the Eustachian tube"} {"id":"HP:0040118","name":"Stenosis of the Eustachian tube"} {"id":"HP:0040119","name":"Unilateral conductive hearing impairment"} {"id":"HP:0040120","name":"Abnormality of the reflex of the tensor tympanii muscle"} {"id":"HP:0040121","name":"Abnormality of the acoustic reflex"} {"id":"HP:0040122","name":"Impairment of the the acoustic reflex"} {"id":"HP:0040123","name":"Impairment of the reflex of the tensor tympanii muscle"} {"id":"HP:0040124","name":"Patent tuba eustachii"} {"id":"HP:0040126","name":"Abnormal serum cobalamin"} {"id":"HP:0040127","name":"Abnormal sweat homeostasis"} {"id":"HP:0040128","name":"Abnormal sweat electrolytes"} {"id":"HP:0040129","name":"Abnormal nerve conduction velocity"} {"id":"HP:0040130","name":"Abnormal serum iron"} {"id":"HP:0040131","name":"Abnormal motor nerve conduction velocity"} {"id":"HP:0040132","name":"Abnormal sensory nerve conduction velocity"} {"id":"HP:0040133","name":"Abnormal serum ferritin"} {"id":"HP:0040134","name":"Abnormal hepatic iron concentration"} {"id":"HP:0040135","name":"Abnormal transferrin saturation"} {"id":"HP:0040137","name":"Comodogenic acne"} {"id":"HP:0040138","name":"Mucinous histiocytosis"} {"id":"HP:0040139","name":"Lipogranulomatosis"} {"id":"HP:0040140","name":"Degeneration of the striatum"} {"id":"HP:0040141","name":"Tardive dyskinesia"} {"id":"HP:0040142","name":"5-oxoprolinase deficiency"} {"id":"HP:0040143","name":"Dystopic os odontoideum"} {"id":"HP:0040144","name":"L-2-hydroxyglutaric aciduria"} {"id":"HP:0040145","name":"Dicarboxylic acidemia"} {"id":"HP:0040146","name":"D-2-hydroxyglutaric acidemia"} {"id":"HP:0040147","name":"L-2-hydroxyglutaric acidemia"} {"id":"HP:0040148","name":"Cortical myoclonus"} {"id":"HP:0040149","name":"Woolly scalp hair"} {"id":"HP:0040150","name":"Epiblepharon of upper lid"} {"id":"HP:0040151","name":"Epiblepharon of lower lid"} {"id":"HP:0040154","name":"Acne inversa"} {"id":"HP:0040155","name":"Elevated urinary 3-hydroxybutyric acid"} {"id":"HP:0040156","name":"Elevated urinary carboxylic acid"} {"id":"HP:0040157","name":"Abnormal intermamillary distance"} {"id":"HP:0040158","name":"Short intermamillary distance"} {"id":"HP:0040159","name":"Abnormal spaced incisors"} {"id":"HP:0045001","name":"Abnormal ossification of the trapezium"} {"id":"HP:0045002","name":"Absent ossification of the trapezium"} {"id":"HP:0045003","name":"Abnormal ossification of the scaphoid"} {"id":"HP:0045004","name":"Abnormal ossification of the trapezoid bone"} {"id":"HP:0045005","name":"Abnormality of neural tube closure"} {"id":"HP:0045006","name":"Aplasia of lymphatic vessels"} {"id":"HP:0045007","name":"Abnormality of the substantia nigra"} {"id":"HP:0045008","name":"Abnormal shape of the radius"} {"id":"HP:0045009","name":"Abnormal morphology of the radius"} {"id":"HP:0045010","name":"Abnormality of peripheral nerves"} {"id":"HP:0045011","name":"Decreased urine bicarbonate concentration"} {"id":"HP:0045012","name":"Decreased urinary catecholamine concentration"} {"id":"HP:0045013","name":"Decreased urinary glucose concentration"} {"id":"HP:0045014","name":"Hypolipidemia"} {"id":"HP:0045016","name":"Elevated serum long-chain fatty acids"} {"id":"HP:0045017","name":"Congenital malformation of the left heart"} {"id":"HP:0045018","name":"Partial duplication of eyebrows"} {"id":"HP:0045025","name":"Small palpebral fissure"} {"id":"HP:0045026","name":"Abnormality of the mediastinum"} {"id":"HP:0045027","name":"Abnormality of the thoracic cavity"} {"id":"HP:0045028","name":"Type III lissencephaly"} {"id":"HP:0045029","name":"Eosinophilic fasciitis"} {"id":"HP:0045034","name":"Elevated urinary aminoisobutyric acid"} {"id":"HP:0045035","name":"Decreased urinary copper concentration"} {"id":"HP:0045036","name":"Abnormal urinary copper concentration"} {"id":"HP:0100000","name":"Early onset of sexual maturation"} {"id":"HP:0100001","name":"Malignant mesothelioma"} {"id":"HP:0100002","name":"Pleural mesothelioma"} {"id":"HP:0100003","name":"Peritoneal mesothelioma"} {"id":"HP:0100004","name":"Pericardial mesothelioma"} {"id":"HP:0100005","name":"Testicular mesothelioma"} {"id":"HP:0100006","name":"Neoplasm of the central nervous system"} {"id":"HP:0100007","name":"Neoplasm of the peripheral nervous system"} {"id":"HP:0100008","name":"Schwannoma"} {"id":"HP:0100009","name":"Intracranial meningioma"} {"id":"HP:0100010","name":"Spinal meningioma"} {"id":"HP:0100011","name":"Scleral schwannoma"} {"id":"HP:0100012","name":"Neoplasm of the eye"} {"id":"HP:0100013","name":"Neoplasm of the breast"} {"id":"HP:0100014","name":"Epiretinal membrane"} {"id":"HP:0100015","name":"Stahl ear"} {"id":"HP:0100016","name":"Abnormality of the mesentery"} {"id":"HP:0100017","name":"Capsular cataract"} {"id":"HP:0100018","name":"Nuclear cataract"} {"id":"HP:0100019","name":"Cortical cataract"} {"id":"HP:0100020","name":"Posterior capsular cataract"} {"id":"HP:0100021","name":"Cerebral palsy"} {"id":"HP:0100022","name":"Abnormality of movement"} {"id":"HP:0100023","name":"Recurrent hand flapping"} {"id":"HP:0100024","name":"Conspicuously happy disposition"} {"id":"HP:0100025","name":"Overfriendliness"} {"id":"HP:0100026","name":"Arteriovenous malformation"} {"id":"HP:0100027","name":"Recurrent pancreatitis"} {"id":"HP:0100028","name":"Ectopic thyroid"} {"id":"HP:0100029","name":"Lingual thyroid"} {"id":"HP:0100030","name":"Accessory ectopic thyroid tissue"} {"id":"HP:0100031","name":"Neoplasm of the thyroid gland"} {"id":"HP:0100033","name":"Tics"} {"id":"HP:0100034","name":"Motor tics"} {"id":"HP:0100035","name":"Phonic tics"} {"id":"HP:0100036","name":"Pseudo-fractures"} {"id":"HP:0100037","name":"Abnormality of the scalp hair"} {"id":"HP:0100038","name":"Slow-growing scalp hair"} {"id":"HP:0100039","name":"Thickened cortex of bones"} {"id":"HP:0100040","name":"Broad 2nd toe"} {"id":"HP:0100041","name":"Broad 3rd toe"} {"id":"HP:0100042","name":"Broad 4th toe"} {"id":"HP:0100043","name":"Broad 5th toe"} {"id":"HP:0100044","name":"Absent epiphyses of the 2nd toe"} {"id":"HP:0100045","name":"Bracket epiphyses of the 2nd toe"} {"id":"HP:0100046","name":"Cone-shaped epiphyses of the 2nd toe"} {"id":"HP:0100047","name":"Enlarged epiphyses of the 2nd toe"} {"id":"HP:0100048","name":"Fragmentation of the epiphyses of the 2nd toe"} {"id":"HP:0100049","name":"Irregular epiphyses of the 2nd toe"} {"id":"HP:0100050","name":"Ivory epiphyses of the 2nd toe"} {"id":"HP:0100051","name":"Pseudoepiphyses of the 2nd toe"} {"id":"HP:0100052","name":"Small epiphyses of the 2nd toe"} {"id":"HP:0100053","name":"Stippling of the epiphyses of the 2nd toe"} {"id":"HP:0100054","name":"Triangular epiphyses of the 2nd toe"} {"id":"HP:0100055","name":"Absent epiphyses of the 3rd toe"} {"id":"HP:0100056","name":"Bracket epiphyses of the 3rd toe"} {"id":"HP:0100057","name":"Cone-shaped epiphyses of the 3rd toe"} {"id":"HP:0100058","name":"Enlarged epiphyses of the 3rd toe"} {"id":"HP:0100059","name":"Fragmentation of the epiphyses of the 3rd toe"} {"id":"HP:0100060","name":"Irregular epiphyses of the 3rd toe"} {"id":"HP:0100061","name":"Ivory epiphyses of the 3rd toe"} {"id":"HP:0100062","name":"Pseudoepiphyses of the 3rd toe"} {"id":"HP:0100063","name":"Small epiphyses of the 3rd toe"} {"id":"HP:0100064","name":"Stippling of the epiphyses of the 3rd toe"} {"id":"HP:0100065","name":"Triangular epiphyses of the 3rd toe"} {"id":"HP:0100066","name":"Absent epiphyses of the 4th toe"} {"id":"HP:0100067","name":"Bracket epiphyses of the 4th toe"} {"id":"HP:0100068","name":"Cone-shaped epiphyses of the 4th toe"} {"id":"HP:0100069","name":"Enlarged epiphyses of the 4th toe"} {"id":"HP:0100070","name":"Fragmentation of the epiphyses of the 4th toe"} {"id":"HP:0100071","name":"Irregular epiphyses of the 4th toe"} {"id":"HP:0100072","name":"Ivory epiphyses of the 4th toe"} {"id":"HP:0100073","name":"Pseudoepiphyses of the 4th toe"} {"id":"HP:0100074","name":"Small epiphyses of the 4th toe"} {"id":"HP:0100075","name":"Stippling of the epiphyses of the 4th toe"} {"id":"HP:0100076","name":"Triangular epiphyses of the 4th toe"} {"id":"HP:0100077","name":"Absent epiphyses of the 5th toe"} {"id":"HP:0100078","name":"Bracket epiphyses of the 5th toe"} {"id":"HP:0100079","name":"Cone-shaped epiphyses of the 5th toe"} {"id":"HP:0100080","name":"Enlarged epiphyses of the 5th toe"} {"id":"HP:0100081","name":"Fragmentation of the epiphyses of the 5th toe"} {"id":"HP:0100082","name":"Irregular epiphyses of the 5th toe"} {"id":"HP:0100083","name":"Ivory epiphyses of the 5th toe"} {"id":"HP:0100084","name":"Pseudoepiphyses of the 5th toe"} {"id":"HP:0100085","name":"Small epiphyses of the 5th toe"} {"id":"HP:0100086","name":"Stippling of the epiphyses of the 5th toe"} {"id":"HP:0100087","name":"Triangular epiphyses of the 5th toe"} {"id":"HP:0100088","name":"Abnormality of the epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100089","name":"Abnormality of the epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100090","name":"Abnormality of the epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100091","name":"Abnormality of the epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100092","name":"Abnormality of the epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100093","name":"Abnormality of the epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100094","name":"Abnormality of the epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100095","name":"Abnormality of the epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100096","name":"Abnormality of the epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100097","name":"Abnormality of the epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100098","name":"Abnormality of the epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100099","name":"Abnormality of the epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100100","name":"Absent epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100101","name":"Bracket epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100102","name":"Cone-shaped epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100103","name":"Enlarged epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100104","name":"Fragmentation of the epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100105","name":"Irregular epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100106","name":"Ivory epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100107","name":"Pseudoepiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100108","name":"Small epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100109","name":"Stippling of the epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100110","name":"Triangular epiphysis of the distal phalanx of the 2nd toe"} {"id":"HP:0100111","name":"Absent epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100112","name":"Bracket epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100113","name":"Cone-shaped epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100114","name":"Enlarged epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100115","name":"Fragmentation of the epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100116","name":"Irregular epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100117","name":"Ivory epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100118","name":"Pseudoepiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100119","name":"Small epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100120","name":"Stippling of the epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100121","name":"Triangular epiphysis of the middle phalanx of the 2nd toe"} {"id":"HP:0100122","name":"Absent epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100123","name":"Bracket epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100124","name":"Cone-shaped epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100125","name":"Enlarged epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100126","name":"Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100127","name":"Irregular epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100128","name":"Ivory epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100129","name":"Pseudoepiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100130","name":"Small epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100131","name":"Stippling of the epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100132","name":"Triangular epiphysis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100133","name":"Abnormality of the pubic hair"} {"id":"HP:0100134","name":"Abnormality of the axillary hair"} {"id":"HP:0100135","name":"Absent epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100136","name":"Bracket epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100137","name":"Cone-shaped epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100138","name":"Enlarged epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100139","name":"Fragmentation of the epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100140","name":"Irregular epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100141","name":"Ivory epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100142","name":"Pseudoepiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100143","name":"Small epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100144","name":"Stippling of the epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100145","name":"Triangular epiphysis of the distal phalanx of the 3rd toe"} {"id":"HP:0100146","name":"Absent epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100147","name":"Bracket epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100148","name":"Cone-shaped epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100149","name":"Enlarged epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100150","name":"Fragmentation of the epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100151","name":"Irregular epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100152","name":"Ivory epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100153","name":"Pseudoepiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100154","name":"Small epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100155","name":"Stippling of the epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100156","name":"Triangular epiphysis of the middle phalanx of the 3rd toe"} {"id":"HP:0100157","name":"Absent epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100158","name":"Bracket epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100159","name":"Cone-shaped epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100160","name":"Enlarged epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100161","name":"Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100162","name":"Irregular epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100163","name":"Ivory epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100164","name":"Pseudoepiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100165","name":"Small epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100166","name":"Stippling of the epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100167","name":"Triangular epiphysis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100168","name":"Fragmented epiphyses"} {"id":"HP:0100169","name":"Absent epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100170","name":"Bracket epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100171","name":"Cone-shaped epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100172","name":"Enlarged epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100173","name":"Fragmentation of the epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100174","name":"Irregular epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100175","name":"Ivory epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100176","name":"Pseudoepiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100177","name":"Small epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100178","name":"Stippling of the epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100179","name":"Triangular epiphysis of the distal phalanx of the 4th toe"} {"id":"HP:0100180","name":"Absent epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100181","name":"Bracket epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100182","name":"Cone-shaped epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100183","name":"Enlarged epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100184","name":"Fragmentation of the epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100185","name":"Irregular epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100186","name":"Ivory epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100187","name":"Pseudoepiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100188","name":"Small epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100189","name":"Stippling of the epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100190","name":"Triangular epiphysis of the middle phalanx of the 4th toe"} {"id":"HP:0100191","name":"Absent epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100192","name":"Bracket epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100193","name":"Cone-shaped epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100194","name":"Enlarged epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100195","name":"Fragmentation of the epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100196","name":"Irregular epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100197","name":"Ivory epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100198","name":"Pseudoepiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100199","name":"Small epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100200","name":"Stippling of the epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100201","name":"Triangular epiphysis of the proximal phalanx of the 4th toe"} {"id":"HP:0100202","name":"Absent epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100203","name":"Bracket epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100204","name":"Cone-shaped epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100205","name":"Enlarged epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100206","name":"Fragmentation of the epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100207","name":"Irregular epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100208","name":"Ivory epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100209","name":"Pseudoepiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100210","name":"Small epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100211","name":"Stippling of the epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100212","name":"Triangular epiphysis of the distal phalanx of the 5th toe"} {"id":"HP:0100213","name":"Absent epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100214","name":"Bracket epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100215","name":"Cone-shaped epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100216","name":"Enlarged epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100217","name":"Fragmentation of the epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100218","name":"Irregular epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100219","name":"Ivory epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100220","name":"Pseudoepiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100221","name":"Small epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100222","name":"Stippling of the epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100223","name":"Triangular epiphysis of the middle phalanx of the 5th toe"} {"id":"HP:0100224","name":"Absent epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100225","name":"Bracket epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100226","name":"Cone-shaped epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100227","name":"Enlarged epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100228","name":"Fragmentation of the epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100229","name":"Irregular epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100230","name":"Ivory epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100231","name":"Pseudoepiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100232","name":"Small epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100233","name":"Stippling of the epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100234","name":"Triangular epiphysis of the proximal phalanx of the 5th toe"} {"id":"HP:0100235","name":"Synostosis involving bones of the toes"} {"id":"HP:0100237","name":"Proximal symphalangism (feet)"} {"id":"HP:0100238","name":"Synostosis involving bones of the upper limbs"} {"id":"HP:0100240","name":"Synostosis of joints"} {"id":"HP:0100241","name":"Ectopic respiratory mucosa"} {"id":"HP:0100242","name":"Sarcoma"} {"id":"HP:0100243","name":"Leiomyosarcoma"} {"id":"HP:0100244","name":"Fibrosarcoma"} {"id":"HP:0100245","name":"Desmoid tumors"} {"id":"HP:0100246","name":"Osteoma"} {"id":"HP:0100247","name":"Recurrent singultus"} {"id":"HP:0100248","name":"Hemiballismus"} {"id":"HP:0100249","name":"Calcification of muscles"} {"id":"HP:0100250","name":"Meningeal calcification"} {"id":"HP:0100251","name":"Lipomas of the central neryous system"} {"id":"HP:0100252","name":"Diaphyseal dysplasia"} {"id":"HP:0100253","name":"Abnormality of the medullary cavity of the long bones"} {"id":"HP:0100254","name":"Stenosis of the medullary cavity of the long bones"} {"id":"HP:0100255","name":"Metaphyseal dysplasia"} {"id":"HP:0100256","name":"Senile plaques"} {"id":"HP:0100257","name":"Ectrodactyly"} {"id":"HP:0100258","name":"Preaxial polydactyly"} {"id":"HP:0100259","name":"Postaxial polydactyly"} {"id":"HP:0100260","name":"Mesoaxial polydactyly"} {"id":"HP:0100261","name":"Abnormal tendon morphology"} {"id":"HP:0100262","name":"Synostosis involving digits"} {"id":"HP:0100263","name":"Distal symphalangism"} {"id":"HP:0100264","name":"Proximal symphalangism"} {"id":"HP:0100265","name":"Synostosis of metacarpals/metatarsals"} {"id":"HP:0100266","name":"Synostosis of carpals/tarsals"} {"id":"HP:0100267","name":"Lip pit"} {"id":"HP:0100268","name":"Upper lip pit"} {"id":"HP:0100269","name":"Paramedian lip pit"} {"id":"HP:0100270","name":"Abnormality of dorsoventral patterning of the limbs"} {"id":"HP:0100271","name":"Hyponasal speech"} {"id":"HP:0100272","name":"Branchial sinus"} {"id":"HP:0100273","name":"Neoplasm of the colon"} {"id":"HP:0100274","name":"Gustatory lacrimation"} {"id":"HP:0100275","name":"Diffuse cerebellar atrophy"} {"id":"HP:0100276","name":"Skin pit"} {"id":"HP:0100277","name":"Periauricular skin pits"} {"id":"HP:0100279","name":"Ulcerative colitis"} {"id":"HP:0100280","name":"Crohn's disease"} {"id":"HP:0100281","name":"Chronic colitis"} {"id":"HP:0100282","name":"Acute colitis"} {"id":"HP:0100283","name":"EMG: continuous motor unit activity at rest"} {"id":"HP:0100284","name":"EMG: myotonic discharges"} {"id":"HP:0100285","name":"EMG: impaired neuromuscular transmission"} {"id":"HP:0100287","name":"EMG: slow motor conduction"} {"id":"HP:0100288","name":"EMG: myokymic discharges"} {"id":"HP:0100289","name":"Abnormality of pattern reversal visual evoked potentials"} {"id":"HP:0100290","name":"Abnormality of peripheral somatosensory evoked potentials"} {"id":"HP:0100291","name":"Abnormality of central somatosensory evoked potentials"} {"id":"HP:0100292","name":"Amyloidosis of peripheral nerves"} {"id":"HP:0100293","name":"Muscle fiber hypertrophy"} {"id":"HP:0100295","name":"Muscle fiber atrophy"} {"id":"HP:0100296","name":"Perifascicular muscle fiber atrophy"} {"id":"HP:0100297","name":"Increased endomysial connective tissue"} {"id":"HP:0100298","name":"Motheaten muscle fibers"} {"id":"HP:0100299","name":"Muscle fiber inclusion bodies"} {"id":"HP:0100300","name":"Desmin bodies"} {"id":"HP:0100301","name":"Muscle fiber tubular inclusions"} {"id":"HP:0100302","name":"Muscle fiber tubuloreticular inclusions"} {"id":"HP:0100303","name":"Muscle fiber cytoplasmatic inclusion bodies"} {"id":"HP:0100304","name":"Muscle fiber intranuclear inclusion bodies"} {"id":"HP:0100305","name":"Ring fibers"} {"id":"HP:0100306","name":"Muscle fiber hyaline bodies"} {"id":"HP:0100307","name":"Cerebellar hemisphere hypoplasia"} {"id":"HP:0100308","name":"Cerebral cortical hemiatrophy"} {"id":"HP:0100309","name":"Subdural hemorrhage"} {"id":"HP:0100310","name":"Epidural hemorrhage"} {"id":"HP:0100311","name":"Cerebral ventricular adhesions"} {"id":"HP:0100312","name":"Cerebral germinoma"} {"id":"HP:0100313","name":"Cerebral granulomatosis"} {"id":"HP:0100314","name":"Cerebral inclusion bodies"} {"id":"HP:0100315","name":"Lewy bodies"} {"id":"HP:0100316","name":"Hirano bodies"} {"id":"HP:0100317","name":"Agyrophilic inclusion bodies"} {"id":"HP:0100318","name":"Lafora bodies"} {"id":"HP:0100319","name":"Cerebral hyaline bodies"} {"id":"HP:0100320","name":"Rosenthal fibres"} {"id":"HP:0100321","name":"Abnormality of the dentate nucleus"} {"id":"HP:0100322","name":"Aplasia of the pyramidal tract"} {"id":"HP:0100323","name":"Juvenile aseptic necrosis"} {"id":"HP:0100324","name":"Scleroderma"} {"id":"HP:0100326","name":"Immunologic hypersensitivity"} {"id":"HP:0100327","name":"Cow milk allergy"} {"id":"HP:0100328","name":"Carpometacarpal synostosis"} {"id":"HP:0100329","name":"Tarsometatarsal synostosis"} {"id":"HP:0100333","name":"Unilateral cleft lip"} {"id":"HP:0100334","name":"Unilateral cleft palate"} {"id":"HP:0100335","name":"Non-midline cleft lip"} {"id":"HP:0100336","name":"Bilateral cleft lip"} {"id":"HP:0100337","name":"Bilateral cleft palate"} {"id":"HP:0100338","name":"Non-midline cleft palate"} {"id":"HP:0100339","name":"Abnormality of the os naviculare pedis"} {"id":"HP:0100340","name":"Fibular deviation of the 4th toe"} {"id":"HP:0100341","name":"Tibial deviation of the 4th toe"} {"id":"HP:0100342","name":"Fibular deviation of the 3rd toe"} {"id":"HP:0100343","name":"Tibial deviation of the 3rd toe"} {"id":"HP:0100344","name":"Fibular deviation of the 2nd toe"} {"id":"HP:0100345","name":"Tibial deviation of the 2nd toe"} {"id":"HP:0100346","name":"Fibular deviation of the 5th toe"} {"id":"HP:0100347","name":"Tibial deviation of the 5th toe"} {"id":"HP:0100348","name":"Contracture of the proximal interphalangeal joint of the 2nd toe"} {"id":"HP:0100349","name":"Contracture of the proximal interphalangeal joint of the 3rd toe"} {"id":"HP:0100350","name":"Contracture of the proximal interphalangeal joint of the 4th toe"} {"id":"HP:0100351","name":"Contractures of the proximal interphalangeal joint of the 5th toe"} {"id":"HP:0100352","name":"Contracture of the distal interphalangeal joint of the 2nd toe"} {"id":"HP:0100353","name":"Contracture of the distal interphalangeal joint of the 3rd toe"} {"id":"HP:0100354","name":"Contracture of the distal interphalangeal joint of the 4th toe"} {"id":"HP:0100355","name":"Contractures of the distal interphalangeal joint of the 5th toe"} {"id":"HP:0100356","name":"Contracture of the metatarsophalangeal joint of the 2nd toe"} {"id":"HP:0100357","name":"Contracture of the metatarsophalangeal joint of the 3rd toe"} {"id":"HP:0100358","name":"Contracture of the metatarsophalangeal joint of the 4th toe"} {"id":"HP:0100359","name":"Contracture of the metatarsophalangeal joint of the 5th toe"} {"id":"HP:0100360","name":"Contractures of the joints of the upper limbs"} {"id":"HP:0100362","name":"Aplasia of the phalanges of the 3rd toe"} {"id":"HP:0100363","name":"Aplasia of the phalanges of the 4th toe"} {"id":"HP:0100364","name":"Aplasia of the phalanges of the 5th toe"} {"id":"HP:0100366","name":"Short phalanx of the 3rd toe"} {"id":"HP:0100367","name":"Short phalanx of the 4th toe"} {"id":"HP:0100368","name":"Short phalanx of the 5th toe"} {"id":"HP:0100369","name":"Aplasia/Hypoplasia of the distal phalanx of the 3rd toe"} {"id":"HP:0100370","name":"Aplasia/Hypoplasia of the distal phalanx of the 4th toe"} {"id":"HP:0100371","name":"Aplasia/Hypoplasia of the distal phalanx of the 5th toe"} {"id":"HP:0100372","name":"Aplasia/Hypoplasia of the middle phalanx of the 3rd toe"} {"id":"HP:0100373","name":"Aplasia/Hypoplasia of the middle phalanx of the 4th toe"} {"id":"HP:0100374","name":"Aplasia/Hypoplasia of the middle phalanx of the 5th toe"} {"id":"HP:0100375","name":"Aplasia/hypoplasia of the proximal phalanx of the 3rd toe"} {"id":"HP:0100376","name":"Aplasia/hypoplasia of the proximal phalanx of the 4th toe"} {"id":"HP:0100377","name":"Aplasia/hypoplasia of the proximal phalanx of the 5th toe"} {"id":"HP:0100378","name":"Absent distal phalanx of the 3rd toe"} {"id":"HP:0100379","name":"Aplasia of the distal phalanx of the 4th toe"} {"id":"HP:0100380","name":"Aplasia of the distal phalanx of the 5th toe"} {"id":"HP:0100381","name":"Absent middle phalanx of the 3rd toe"} {"id":"HP:0100382","name":"Aplasia of the middle phalanx of the 4th toe"} {"id":"HP:0100383","name":"Aplasia of the middle phalanx of the 5th toe"} {"id":"HP:0100384","name":"Absent proximal phalanx of the 3rd toe"} {"id":"HP:0100385","name":"Aplasia of the proximal phalanx of the 4th toe"} {"id":"HP:0100386","name":"Aplasia of the proximal phalanx of the 5th toe"} {"id":"HP:0100387","name":"Aplasia of the middle phalanges of the toes"} {"id":"HP:0100388","name":"Aplasia of the proximal phalanges of the toes"} {"id":"HP:0100389","name":"Short distal phalanx of the 3rd toe"} {"id":"HP:0100390","name":"Short distal phalanx of the 4th toe"} {"id":"HP:0100391","name":"Short distal phalanx of the 5th toe"} {"id":"HP:0100392","name":"Short middle phalanx of the 3rd toe"} {"id":"HP:0100393","name":"Short middle phalanx of the 4th toe"} {"id":"HP:0100394","name":"Short middle phalanx of the 5th toe"} {"id":"HP:0100395","name":"Short proximal phalanx of the 3rd toe"} {"id":"HP:0100396","name":"Short proximal phalanx of the 4th toe"} {"id":"HP:0100397","name":"Short proximal phalanx of the 5th toe"} {"id":"HP:0100398","name":"Duplication of the distal phalanx of the 3rd toe"} {"id":"HP:0100399","name":"Duplication of the distal phalanx of the 4th toe"} {"id":"HP:0100400","name":"Duplication of the distal phalanx of the 5th toe"} {"id":"HP:0100401","name":"Duplication of the middle phalanx of the 3rd toe"} {"id":"HP:0100402","name":"Duplication of the middle phalanx of the 4th toe"} {"id":"HP:0100403","name":"Duplication of the middle phalanx of the 5th toe"} {"id":"HP:0100404","name":"Duplication of the proximal phalanx of the 3rd toe"} {"id":"HP:0100405","name":"Duplication of the proximal phalanx of the 4th toe"} {"id":"HP:0100406","name":"Duplication of the proximal phalanx of the 5th toe"} {"id":"HP:0100407","name":"Complete duplication of the distal phalanx of the 3rd toe"} {"id":"HP:0100408","name":"Complete duplication of the distal phalanx of the 4th toe"} {"id":"HP:0100409","name":"Complete duplication of the distal phalanx of the 5th toe"} {"id":"HP:0100410","name":"Complete duplication of the middle phalanx of the 3rd toe"} {"id":"HP:0100411","name":"Complete duplication of the middle phalanx of the 4th toe"} {"id":"HP:0100412","name":"Complete duplication of the middle phalanx of the 5th toe"} {"id":"HP:0100413","name":"Complete duplication of the proximal phalanx of the 3rd toe"} {"id":"HP:0100414","name":"Complete duplication of the proximal phalanx of the 4th toe"} {"id":"HP:0100415","name":"Complete duplication of the proximal phalanx of the 5th toe"} {"id":"HP:0100416","name":"Partial duplication of the distal phalanx of the 3rd toe"} {"id":"HP:0100417","name":"Partial duplication of the distal phalanx of the 4th toe"} {"id":"HP:0100418","name":"Partial duplication of the distal phalanx of the 5th toe"} {"id":"HP:0100419","name":"Partial duplication of the middle phalanx of the 3rd toe"} {"id":"HP:0100420","name":"Partial duplication of the middle phalanx of the 4th toe"} {"id":"HP:0100421","name":"Partial duplication of the middle phalanx of the 5th toe"} {"id":"HP:0100422","name":"Partial duplication of the proximal phalanx of the 3rd toe"} {"id":"HP:0100423","name":"Partial duplication of the proximal phalanx of the 4th toe"} {"id":"HP:0100424","name":"Partial duplication of the proximal phalanx of the 5th toe"} {"id":"HP:0100425","name":"Broad middle phalanx of the 3rd toe"} {"id":"HP:0100426","name":"Broad middle phalanx of the 4th toe"} {"id":"HP:0100427","name":"Broad middle phalanx of the 5th toe"} {"id":"HP:0100428","name":"Broad proximal phalanx of the 3rd toe"} {"id":"HP:0100429","name":"Broad proximal phalanx of the 4th toe"} {"id":"HP:0100430","name":"Broad proximal phalanx of the 5th toe"} {"id":"HP:0100431","name":"Broad distal phalanx of the 3rd toe"} {"id":"HP:0100432","name":"Broad distal phalanx of the 4th toe"} {"id":"HP:0100433","name":"Broad distal phalanx of the 5th toe"} {"id":"HP:0100434","name":"Bullet-shaped middle phalanx of the 3rd toe"} {"id":"HP:0100435","name":"Bullet-shaped middle phalanx of the 4th toe"} {"id":"HP:0100436","name":"Bullet-shaped middle phalanx of the 5th toe"} {"id":"HP:0100437","name":"Bullet-shaped proximal phalanx of the 3rd toe"} {"id":"HP:0100438","name":"Bullet-shaped proximal phalanx of the 4th toe"} {"id":"HP:0100439","name":"Bullet-shaped proximal phalanx of the 5th toe"} {"id":"HP:0100440","name":"Bullet-shaped distal phalanx of the 3rd toe"} {"id":"HP:0100441","name":"Bullet-shaped distal phalanx of the 4th toe"} {"id":"HP:0100442","name":"Bullet-shaped distal phalanx of the 5th toe"} {"id":"HP:0100443","name":"Curved middle phalanx of the 3rd toe"} {"id":"HP:0100444","name":"Curved middle phalanx of the 4th toe"} {"id":"HP:0100445","name":"Curved middle phalanx of the 5th toe"} {"id":"HP:0100446","name":"Curved proximal phalanx of the 3rd toe"} {"id":"HP:0100447","name":"Curved proximal phalanx of the 4th toe"} {"id":"HP:0100448","name":"Curved proximal phalanx of the 5th toe"} {"id":"HP:0100449","name":"Curved distal phalanx of the 3rd toe"} {"id":"HP:0100450","name":"Curved distal phalanx of the 4th toe"} {"id":"HP:0100451","name":"Curved distal phalanx of the 5th toe"} {"id":"HP:0100452","name":"Osteolytic defects of the middle phalanx of the 3rd toe"} {"id":"HP:0100453","name":"Osteolytic defects of the middle phalanx of the 4th toe"} {"id":"HP:0100454","name":"Osteolytic defects of the middle phalanx of the 5th toe"} {"id":"HP:0100455","name":"Osteolytic defects of the proximal phalanx of the 3rd toe"} {"id":"HP:0100456","name":"Osteolytic defects of the proximal phalanx of the 4th toe"} {"id":"HP:0100457","name":"Osteolytic defects of the proximal phalanx of the 5th toe"} {"id":"HP:0100458","name":"Osteolytic defects of the distal phalanx of the 3rd toe"} {"id":"HP:0100459","name":"Osteolytic defects of the distal phalanx of the 4th toe"} {"id":"HP:0100460","name":"Osteolytic defects of the distal phalanx of the 5th toe"} {"id":"HP:0100461","name":"Patchy sclerosis of the middle phalanx of the 3rd toe"} {"id":"HP:0100462","name":"Patchy sclerosis of the middle phalanx of the 4th toe"} {"id":"HP:0100463","name":"Patchy sclerosis of the middle phalanx of the 5th toe"} {"id":"HP:0100464","name":"Patchy sclerosis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100465","name":"Patchy sclerosis of the proximal phalanx of the 4th toe"} {"id":"HP:0100466","name":"Patchy sclerosis of the proximal phalanx of the 5th toe"} {"id":"HP:0100467","name":"Patchy sclerosis of the distal phalanx of the 3rd toe"} {"id":"HP:0100468","name":"Patchy sclerosis of the distal phalanx of the 4th toe"} {"id":"HP:0100469","name":"Patchy sclerosis of the distal phalanx of the 5th toe"} {"id":"HP:0100470","name":"Symphalangism affecting the middle phalanx of the 3rd toe"} {"id":"HP:0100471","name":"Symphalangism affecting the middle phalanx of the 4th toe"} {"id":"HP:0100472","name":"Symphalangism affecting the middle phalanx of the 5th toe"} {"id":"HP:0100473","name":"Symphalangism affecting the proximal phalanx of the 3rd toe"} {"id":"HP:0100474","name":"Symphalangism affecting the proximal phalanx of the 4th toe"} {"id":"HP:0100475","name":"Symphalangism affecting the proximal phalanx of the 5th toe"} {"id":"HP:0100476","name":"Symphalangism affecting the distal phalanx of the 3rd toe"} {"id":"HP:0100477","name":"Symphalangism affecting the distal phalanx of the 4th toe"} {"id":"HP:0100478","name":"Symphalangism affecting the distal phalanx of the 5th toe"} {"id":"HP:0100480","name":"Proximal/middle symphalangism of 3rd toe"} {"id":"HP:0100481","name":"Proximal/middle symphalangism of 4th toe"} {"id":"HP:0100482","name":"Proximal/middle symphalangism of 5th toe"} {"id":"HP:0100483","name":"Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal"} {"id":"HP:0100484","name":"Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal"} {"id":"HP:0100485","name":"Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal"} {"id":"HP:0100486","name":"Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal"} {"id":"HP:0100487","name":"Triangular shaped distal phalanx of the 5th toe"} {"id":"HP:0100488","name":"Synostosis of the proximal phalanx of the hallux with the 1st metatarsal"} {"id":"HP:0100489","name":"Proximal/middle symphalangism of 2nd toe"} {"id":"HP:0100490","name":"Camptodactyly of finger"} {"id":"HP:0100491","name":"Abnormality of lower limb joint"} {"id":"HP:0100492","name":"Joint contractures involving the joints of the feet"} {"id":"HP:0100493","name":"Hypoammonemia"} {"id":"HP:0100494","name":"Abnormality of mast cells"} {"id":"HP:0100495","name":"Mastocytosis"} {"id":"HP:0100496","name":"Abnormality of the vitamin B3 metabolism"} {"id":"HP:0100497","name":"Vitamin B3 deficiency"} {"id":"HP:0100498","name":"Deviation of toes"} {"id":"HP:0100499","name":"Tibial deviation of toes"} {"id":"HP:0100500","name":"Fibular deviation of toes"} {"id":"HP:0100501","name":"Recurrent bronchiolitis"} {"id":"HP:0100502","name":"Vitamin B12 deficiency"} {"id":"HP:0100503","name":"Vitamin B1 deficiency"} {"id":"HP:0100504","name":"Vitamin B2 deficiency"} {"id":"HP:0100505","name":"Vitamin B5 deficiency"} {"id":"HP:0100506","name":"Vitamin B8 deficiency"} {"id":"HP:0100507","name":"Folate deficiency"} {"id":"HP:0100508","name":"Abnormality of vitamin metabolism"} {"id":"HP:0100509","name":"Abnormality of vitamin C metabolism"} {"id":"HP:0100510","name":"Vitamin C deficiency"} {"id":"HP:0100511","name":"Abnormality of vitamin D metabolism"} {"id":"HP:0100512","name":"Vitamin D deficiency"} {"id":"HP:0100513","name":"Vitamin E deficiency"} {"id":"HP:0100514","name":"Abnormality of vitamin E metabolism"} {"id":"HP:0100515","name":"Pollakisuria"} {"id":"HP:0100516","name":"Neoplasm of the ureter"} {"id":"HP:0100517","name":"Neoplasm of the urethra"} {"id":"HP:0100518","name":"Dysuria"} {"id":"HP:0100519","name":"Anuria"} {"id":"HP:0100520","name":"Oliguria"} {"id":"HP:0100521","name":"Neoplasm of the thymus"} {"id":"HP:0100522","name":"Thymoma"} {"id":"HP:0100523","name":"Liver abscess"} {"id":"HP:0100524","name":"Limb duplication"} {"id":"HP:0100525","name":"Urachus fistula"} {"id":"HP:0100526","name":"Neoplasm of the lung"} {"id":"HP:0100527","name":"Neoplasia of the pleura"} {"id":"HP:0100528","name":"Pleuropulmonary blastoma"} {"id":"HP:0100529","name":"Abnormality of phosphate homeostasis"} {"id":"HP:0100530","name":"Abnormality of calcium-phosphate metabolism"} {"id":"HP:0100531","name":"Wind-swept deformity of the knees"} {"id":"HP:0100532","name":"Scleritis"} {"id":"HP:0100533","name":"Inflammatory abnormality of the eye"} {"id":"HP:0100534","name":"Episcleritis"} {"id":"HP:0100535","name":"Tibiofibular diastasis"} {"id":"HP:0100536","name":"Abnormality of the fascia"} {"id":"HP:0100537","name":"Fasciitis"} {"id":"HP:0100538","name":"Abnormality of the supraorbital ridges"} {"id":"HP:0100539","name":"Periorbital edema"} {"id":"HP:0100540","name":"Palpebral edema"} {"id":"HP:0100541","name":"Femoral hernia"} {"id":"HP:0100542","name":"Abnormal localization of kidney"} {"id":"HP:0100543","name":"Cognitive impairment"} {"id":"HP:0100544","name":"Neoplasm of the heart"} {"id":"HP:0100545","name":"Arterial stenosis"} {"id":"HP:0100546","name":"Carotid artery stenosis"} {"id":"HP:0100547","name":"Abnormality of forebrain morphology"} {"id":"HP:0100548","name":"Exstrophy"} {"id":"HP:0100550","name":"Tendon rupture"} {"id":"HP:0100551","name":"Neoplasm of the trachea"} {"id":"HP:0100552","name":"Neoplasm of the tracheobronchial system"} {"id":"HP:0100553","name":"Hemihypertrophy of lower limb"} {"id":"HP:0100554","name":"Hemihypertrophy of upper limb"} {"id":"HP:0100555","name":"Asymmetric growth"} {"id":"HP:0100556","name":"Hemiatrophy"} {"id":"HP:0100557","name":"Hemiatrophy of lower limb"} {"id":"HP:0100558","name":"Hemiatrophy of upper limb"} {"id":"HP:0100559","name":"Lower limb asymmetry"} {"id":"HP:0100560","name":"Upper limb asymmetry"} {"id":"HP:0100561","name":"Spinal cord lesion"} {"id":"HP:0100562","name":"Diplomyelia"} {"id":"HP:0100563","name":"Diastomatomyelia"} {"id":"HP:0100564","name":"Triplomyelia"} {"id":"HP:0100565","name":"Hydromyelia"} {"id":"HP:0100566","name":"Amyelia"} {"id":"HP:0100568","name":"Neoplasm of the endocrine system"} {"id":"HP:0100569","name":"Abnormal vertebral ossification"} {"id":"HP:0100570","name":"Carcinoid"} {"id":"HP:0100571","name":"Cardiac diverticulum"} {"id":"HP:0100572","name":"Fibrous cardiac diverticulum"} {"id":"HP:0100573","name":"Muscular cardiac diverticulum"} {"id":"HP:0100574","name":"Biliary tract neoplasm"} {"id":"HP:0100575","name":"Neoplasm of the gallbladder"} {"id":"HP:0100576","name":"Amaurosis fugax"} {"id":"HP:0100577","name":"Urinary bladder inflammation"} {"id":"HP:0100578","name":"Lipoatrophy"} {"id":"HP:0100579","name":"Mucosal telangiectasiae"} {"id":"HP:0100580","name":"Barrett esophagus"} {"id":"HP:0100581","name":"Megacalicosis"} {"id":"HP:0100582","name":"Nasal polyposis"} {"id":"HP:0100583","name":"Corneal perforation"} {"id":"HP:0100584","name":"Endocarditis"} {"id":"HP:0100585","name":"Teleangiectasia of the skin"} {"id":"HP:0100586","name":"Aseptic leukocyturia"} {"id":"HP:0100587","name":"Abnormality of the preputium"} {"id":"HP:0100588","name":"Paraphimosis"} {"id":"HP:0100589","name":"Urogenital fistula"} {"id":"HP:0100590","name":"Rectal fistula"} {"id":"HP:0100592","name":"Peritoneal abscess"} {"id":"HP:0100593","name":"Calcification of cartilage"} {"id":"HP:0100594","name":"Esophageal web"} {"id":"HP:0100595","name":"Camptocormia"} {"id":"HP:0100596","name":"Absent nares"} {"id":"HP:0100598","name":"Pulmonary edema"} {"id":"HP:0100599","name":"Bifid penis"} {"id":"HP:0100600","name":"Penoscrotal transposition"} {"id":"HP:0100601","name":"Eclampsia"} {"id":"HP:0100602","name":"Preeclampsia"} {"id":"HP:0100603","name":"Toxemia of pregnancy"} {"id":"HP:0100604","name":"Neoplasm of the lip"} {"id":"HP:0100605","name":"Neoplasm of the larynx"} {"id":"HP:0100606","name":"Neoplasm of the respiratory system"} {"id":"HP:0100607","name":"Dysmenorrhea"} {"id":"HP:0100608","name":"Metrorrhagia"} {"id":"HP:0100610","name":"Maternal hyperphenylalaninemia"} {"id":"HP:0100611","name":"Multiple glomerular cysts"} {"id":"HP:0100612","name":"Odontogenic neoplasm"} {"id":"HP:0100614","name":"Myositis"} {"id":"HP:0100615","name":"Ovarian neoplasm"} {"id":"HP:0100616","name":"Testicular teratoma"} {"id":"HP:0100617","name":"Testicular seminoma"} {"id":"HP:0100618","name":"Leydig cell neoplasia"} {"id":"HP:0100619","name":"Sertoli cell neoplasm"} {"id":"HP:0100620","name":"Germinoma"} {"id":"HP:0100621","name":"Dysgerminoma"} {"id":"HP:0100622","name":"Maternal seizures"} {"id":"HP:0100623","name":"Abnormality of corpus cavernosum"} {"id":"HP:0100624","name":"Corpus cavernosum sclerosis"} {"id":"HP:0100625","name":"Enlarged thorax"} {"id":"HP:0100626","name":"Chronic hepatic failure"} {"id":"HP:0100627","name":"Displacement of the external urethral meatus"} {"id":"HP:0100628","name":"Esophageal diverticulum"} {"id":"HP:0100629","name":"Midline facial cleft"} {"id":"HP:0100630","name":"Neoplasia of the nasopharynx"} {"id":"HP:0100631","name":"Neoplasm of the adrenal gland"} {"id":"HP:0100632","name":"Pulmonary sequestration"} {"id":"HP:0100633","name":"Esophagitis"} {"id":"HP:0100634","name":"Neuroendocrine neoplasm"} {"id":"HP:0100635","name":"Carotid paraganglioma"} {"id":"HP:0100636","name":"Pulmonary paraglioma"} {"id":"HP:0100638","name":"Neoplasm of the pharynx"} {"id":"HP:0100639","name":"Erectile abnormalities"} {"id":"HP:0100640","name":"Laryngeal cyst"} {"id":"HP:0100641","name":"Neoplasm of the adrenal cortex"} {"id":"HP:0100642","name":"Neoplasm of the adrenal medulla"} {"id":"HP:0100643","name":"Abnormality of nail color"} {"id":"HP:0100644","name":"Melanonychia"} {"id":"HP:0100645","name":"Cystocele"} {"id":"HP:0100646","name":"Thyroiditis"} {"id":"HP:0100647","name":"Graves disease"} {"id":"HP:0100648","name":"Neoplasm of the tongue"} {"id":"HP:0100649","name":"Neoplasm of the oral cavity"} {"id":"HP:0100650","name":"Vaginal neoplasm"} {"id":"HP:0100651","name":"Type I diabetes mellitus"} {"id":"HP:0100653","name":"Optic neuritis"} {"id":"HP:0100654","name":"Retrobulbar optic neuritis"} {"id":"HP:0100656","name":"Thoracoabdominal wall defects"} {"id":"HP:0100657","name":"Celosomia"} {"id":"HP:0100658","name":"Cellulitis"} {"id":"HP:0100659","name":"Abnormality of the cerebral vasculature"} {"id":"HP:0100660","name":"Dyskinesia"} {"id":"HP:0100661","name":"Trigeminal neuralgia"} {"id":"HP:0100662","name":"Chondritis"} {"id":"HP:0100663","name":"Synotia"} {"id":"HP:0100665","name":"Angioedema"} {"id":"HP:0100668","name":"Intestinal duplication"} {"id":"HP:0100669","name":"Abnormal pigmentation of the oral mucosa"} {"id":"HP:0100670","name":"Rough bone trabeculation"} {"id":"HP:0100671","name":"Abnormal trabecular bone morphology"} {"id":"HP:0100672","name":"Vaginal hernia"} {"id":"HP:0100673","name":"Vaginal hydrocele"} {"id":"HP:0100674","name":"Vaginal hematocele"} {"id":"HP:0100675","name":"Vaginal pyocele"} {"id":"HP:0100676","name":"Vaginal lymphocele"} {"id":"HP:0100677","name":"Vulval varicose vein"} {"id":"HP:0100678","name":"Premature skin wrinkling"} {"id":"HP:0100679","name":"Lack of skin elasticity"} {"id":"HP:0100681","name":"Esophageal duplication"} {"id":"HP:0100682","name":"Tracheal atresia"} {"id":"HP:0100684","name":"Salivary gland neoplasm"} {"id":"HP:0100685","name":"Abnormality of Sharpey fibers"} {"id":"HP:0100686","name":"Enthesitis"} {"id":"HP:0100687","name":"Polyotia"} {"id":"HP:0100689","name":"Decreased corneal thickness"} {"id":"HP:0100690","name":"Mosaic central corneal dystrophy"} {"id":"HP:0100691","name":"Abnormality of the curvature of the cornea"} {"id":"HP:0100692","name":"Increased corneal curvature"} {"id":"HP:0100693","name":"Iridodonesis"} {"id":"HP:0100694","name":"Tibial torsion"} {"id":"HP:0100695","name":"Lipedema"} {"id":"HP:0100697","name":"Neurofibrosarcoma"} {"id":"HP:0100698","name":"Subcutaneous neurofibromas"} {"id":"HP:0100699","name":"Scarring"} {"id":"HP:0100700","name":"Abnormality of the arachnoid mater"} {"id":"HP:0100701","name":"Abnormality of the pia mater"} {"id":"HP:0100702","name":"Arachnoid cyst"} {"id":"HP:0100703","name":"Tongue thrusting"} {"id":"HP:0100704","name":"Cortical visual impairment"} {"id":"HP:0100705","name":"Abnormality of the glial cells"} {"id":"HP:0100706","name":"Abnormality of the oligodendroglia"} {"id":"HP:0100707","name":"Abnormality of the astrocytes"} {"id":"HP:0100708","name":"Abnormality of the microglia"} {"id":"HP:0100709","name":"Reduction of oligodendroglia"} {"id":"HP:0100710","name":"Impulsivity"} {"id":"HP:0100711","name":"Abnormality of the thoracic spine"} {"id":"HP:0100712","name":"Abnormality of the lumbar spine"} {"id":"HP:0100716","name":"Self-injurious behavior"} {"id":"HP:0100717","name":"Abnormality of the cementum"} {"id":"HP:0100718","name":"Uterine rupture"} {"id":"HP:0100719","name":"Lens coloboma"} {"id":"HP:0100720","name":"Hypoplasia of the ear cartilage"} {"id":"HP:0100721","name":"Mediastinal lymphadenopathy"} {"id":"HP:0100723","name":"Gastrointestinal stroma tumor"} {"id":"HP:0100724","name":"Hypercoagulability"} {"id":"HP:0100725","name":"Lichenification"} {"id":"HP:0100726","name":"Kaposi's sarcoma"} {"id":"HP:0100727","name":"Histiocytosis"} {"id":"HP:0100728","name":"Germ cell neoplasia"} {"id":"HP:0100729","name":"Large face"} {"id":"HP:0100730","name":"Bronchogenic cyst"} {"id":"HP:0100731","name":"Transverse facial cleft"} {"id":"HP:0100732","name":"Pancreatic fibrosis"} {"id":"HP:0100733","name":"Neoplasm of the parathyroid gland"} {"id":"HP:0100734","name":"Abnormality of vertebral epiphysis morphology"} {"id":"HP:0100735","name":"Hypertensive crisis"} {"id":"HP:0100736","name":"Abnormality of the soft palate"} {"id":"HP:0100737","name":"Abnormality of the hard palate"} {"id":"HP:0100738","name":"Abnormal eating behavior"} {"id":"HP:0100739","name":"Bulimia"} {"id":"HP:0100742","name":"Vascular neoplasm"} {"id":"HP:0100743","name":"Neoplasm of the rectum"} {"id":"HP:0100744","name":"Abnormality of the humeroradial joint"} {"id":"HP:0100745","name":"Abnormality of the humeroulnar joint"} {"id":"HP:0100746","name":"Macrodactyly of finger"} {"id":"HP:0100747","name":"Macrodactyly of toe"} {"id":"HP:0100748","name":"Muscular edema"} {"id":"HP:0100749","name":"Chest pain"} {"id":"HP:0100750","name":"Atelectasis"} {"id":"HP:0100751","name":"Esophageal neoplasm"} {"id":"HP:0100752","name":"Abnormal liver lobulation"} {"id":"HP:0100753","name":"Schizophrenia"} {"id":"HP:0100754","name":"Mania"} {"id":"HP:0100755","name":"Abnormality of salivation"} {"id":"HP:0100757","name":"Pancreatoblastoma"} {"id":"HP:0100758","name":"Gangrene"} {"id":"HP:0100759","name":"Clubbing of fingers"} {"id":"HP:0100760","name":"Clubbing of toes"} {"id":"HP:0100761","name":"Visceral angiomatosis"} {"id":"HP:0100762","name":"Hemobilia"} {"id":"HP:0100763","name":"Abnormality of the lymphatic system"} {"id":"HP:0100764","name":"Lymphangioma"} {"id":"HP:0100765","name":"Abnormality of the tonsils"} {"id":"HP:0100766","name":"Abnormality of the lymphatic vessels"} {"id":"HP:0100767","name":"Abnormality of the placenta"} {"id":"HP:0100768","name":"Choriocarcinoma"} {"id":"HP:0100769","name":"Synovitis"} {"id":"HP:0100770","name":"Hyperperistalsis"} {"id":"HP:0100771","name":"Hypoperistalsis"} {"id":"HP:0100773","name":"Cartilage destruction"} {"id":"HP:0100774","name":"Hyperostosis"} {"id":"HP:0100775","name":"Dural ectasia"} {"id":"HP:0100776","name":"Recurrent pharyngitis"} {"id":"HP:0100777","name":"Exostoses"} {"id":"HP:0100778","name":"Cryoglobulinemia"} {"id":"HP:0100779","name":"Urogenital sinus anomaly"} {"id":"HP:0100780","name":"Conjunctival hamartoma"} {"id":"HP:0100781","name":"Abnormality of the sacroiliac joint"} {"id":"HP:0100783","name":"Breast aplasia"} {"id":"HP:0100784","name":"Peripheral arteriovenous fistula"} {"id":"HP:0100785","name":"Insomnia"} {"id":"HP:0100786","name":"Hypersomnia"} {"id":"HP:0100787","name":"Prostate neoplasm"} {"id":"HP:0100788","name":"Fused lips"} {"id":"HP:0100789","name":"Torus palatinus"} {"id":"HP:0100790","name":"Hernia"} {"id":"HP:0100792","name":"Acantholysis"} {"id":"HP:0100795","name":"Abnormally straight spine"} {"id":"HP:0100796","name":"Orchitis"} {"id":"HP:0100797","name":"Toenail dysplasia"} {"id":"HP:0100798","name":"Fingernail dysplasia"} {"id":"HP:0100799","name":"Neoplasm of the middle ear"} {"id":"HP:0100800","name":"Aplasia/Hypoplasia of the pancreas"} {"id":"HP:0100801","name":"Pancreatic aplasia"} {"id":"HP:0100802","name":"Malposition of the stomach"} {"id":"HP:0100803","name":"Abnormality of the periungual region"} {"id":"HP:0100804","name":"Ungual fibroma"} {"id":"HP:0100805","name":"Precocious menopause"} {"id":"HP:0100806","name":"Sepsis"} {"id":"HP:0100807","name":"Long fingers"} {"id":"HP:0100808","name":"Gastric diverticulum"} {"id":"HP:0100809","name":"Scalp tenderness"} {"id":"HP:0100810","name":"Pointed helix"} {"id":"HP:0100811","name":"Aplasia/Hypoplasia of the colon"} {"id":"HP:0100812","name":"Halitosis"} {"id":"HP:0100813","name":"Testicular torsion"} {"id":"HP:0100814","name":"Blue nevus"} {"id":"HP:0100816","name":"Lip hyperpigmentation"} {"id":"HP:0100817","name":"Renovascular hypertension"} {"id":"HP:0100818","name":"Long thorax"} {"id":"HP:0100819","name":"Intestinal fistula"} {"id":"HP:0100820","name":"Glomerulopathy"} {"id":"HP:0100821","name":"Urethrocele"} {"id":"HP:0100822","name":"Rectocele"} {"id":"HP:0100823","name":"Genital hernia"} {"id":"HP:0100825","name":"Cheilitis"} {"id":"HP:0100826","name":"Neoplasm of the nail"} {"id":"HP:0100827","name":"Lymphocytosis"} {"id":"HP:0100828","name":"Increase in T cell number"} {"id":"HP:0100829","name":"Galactorrhea"} {"id":"HP:0100830","name":"Round ear"} {"id":"HP:0100831","name":"Abnormality of vitamin K metabolism"} {"id":"HP:0100832","name":"Mouches volantes"} {"id":"HP:0100833","name":"Neoplasm of the small intestine"} {"id":"HP:0100834","name":"Neoplasm of the large intestine"} {"id":"HP:0100835","name":"Benign neoplasm of the central nervous system"} {"id":"HP:0100836","name":"Malignant neoplasm of the central nervous system"} {"id":"HP:0100837","name":"Atrophodermia vermiculata"} {"id":"HP:0100838","name":"Recurrent cutaneous abscess formation"} {"id":"HP:0100839","name":"Hepatic agenesis"} {"id":"HP:0100840","name":"Aplasia/Hypoplasia of the eyebrow"} {"id":"HP:0100841","name":"Microgastria"} {"id":"HP:0100842","name":"Septo-optic dysplasia"} {"id":"HP:0100843","name":"Glioblastoma"} {"id":"HP:0100844","name":"Pancreatic fistula"} {"id":"HP:0100845","name":"Anaphylactic shock"} {"id":"HP:0100847","name":"Palmoplantar pustulosis"} {"id":"HP:0100848","name":"Neoplasm of the male external genitalia"} {"id":"HP:0100849","name":"Neoplasm of the scrotum"} {"id":"HP:0100850","name":"Neoplasm of the penis"} {"id":"HP:0100851","name":"Abnormal emotion/affect behavior"} {"id":"HP:0100852","name":"Abnormal fear/anxiety-related behavior"} {"id":"HP:0100853","name":"Hypoplastic areola"} {"id":"HP:0100854","name":"Aplasia of the musculature"} {"id":"HP:0100855","name":"Triceps hypoplasia"} {"id":"HP:0100856","name":"Poorly ossified vertebrae"} {"id":"HP:0100857","name":"Flat sella turcica"} {"id":"HP:0100858","name":"Celiac artery aneurysm"} {"id":"HP:0100859","name":"Superior mesenteric artery aneurysm"} {"id":"HP:0100860","name":"Inferior mesenteric artery aneurysm"} {"id":"HP:0100861","name":"Vertebral body sclerosis"} {"id":"HP:0100862","name":"Aplasia of the femoral head"} {"id":"HP:0100863","name":"Aplasia of the femoral neck"} {"id":"HP:0100864","name":"Short femoral neck"} {"id":"HP:0100865","name":"Broad ischia"} {"id":"HP:0100866","name":"Short iliac bones"} {"id":"HP:0100867","name":"Duodenal stenosis"} {"id":"HP:0100869","name":"Palmar telangiectasia"} {"id":"HP:0100870","name":"Plantar telangiectasia"} {"id":"HP:0100871","name":"Abnormality of the palm"} {"id":"HP:0100872","name":"Abnormality of the plantar skin of foot"} {"id":"HP:0100874","name":"Thick hair"} {"id":"HP:0100875","name":"Hemimacroglossia"} {"id":"HP:0100876","name":"Infra-orbital crease"} {"id":"HP:0100877","name":"Renal diverticulum"} {"id":"HP:0100878","name":"Enlarged uterus"} {"id":"HP:0100879","name":"Enlarged ovaries"} {"id":"HP:0100880","name":"Nephrogenic rest"} {"id":"HP:0100881","name":"Congenital mesoblastic nephroma"} {"id":"HP:0100882","name":"Fibrous hamartoma"} {"id":"HP:0100883","name":"Chorangioma"} {"id":"HP:0100884","name":"Compensatory scoliosis"} {"id":"HP:0100885","name":"Lateral venous anomaly"} {"id":"HP:0100886","name":"Abnormality of globe location"} {"id":"HP:0100887","name":"Abnormality of globe size"} {"id":"HP:0100888","name":"Interdigital loops"} {"id":"HP:0100889","name":"Abnormality of the ductus choledochus"} {"id":"HP:0100890","name":"Cyst of the ductus choledochus"} {"id":"HP:0100891","name":"Bifid xiphoid process"} {"id":"HP:0100892","name":"Abnormality of the xiphoid process"} {"id":"HP:0100893","name":"Prominent xiphoid process"} {"id":"HP:0100894","name":"Broad xiphoid process"} {"id":"HP:0100896","name":"Rectal polyposis"} {"id":"HP:0100898","name":"Connective tissue nevi"} {"id":"HP:0100899","name":"Sclerosis of finger phalanx"} {"id":"HP:0100900","name":"Sclerosis of the distal phalanx of the 2nd finger"} {"id":"HP:0100901","name":"Sclerosis of the distal phalanx of the 3rd finger"} {"id":"HP:0100902","name":"Sclerosis of the distal phalanx of the 4th finger"} {"id":"HP:0100903","name":"Sclerosis of the distal phalanx of the 5th finger"} {"id":"HP:0100904","name":"Sclerosis of the middle phalanx of the 2nd finger"} {"id":"HP:0100905","name":"Sclerosis of the middle phalanx of the 3rd finger"} {"id":"HP:0100906","name":"Sclerosis of the middle phalanx of the 4th finger"} {"id":"HP:0100907","name":"Sclerosis of the middle phalanx of the 5th finger"} {"id":"HP:0100908","name":"Sclerosis of the proximal phalanx of the 2nd finger"} {"id":"HP:0100909","name":"Sclerosis of the proximal phalanx of the 3rd finger"} {"id":"HP:0100910","name":"Sclerosis of the proximal phalanx of the 4th finger"} {"id":"HP:0100911","name":"Sclerosis of the proximal phalanx of the 5th finger"} {"id":"HP:0100912","name":"Sclerosis of the distal phalanx of the thumb"} {"id":"HP:0100913","name":"Sclerosis of the proximal phalanx of the thumb"} {"id":"HP:0100914","name":"Sclerosis of the 1st metacarpal"} {"id":"HP:0100915","name":"Sclerosis of distal finger phalanx"} {"id":"HP:0100916","name":"Sclerosis of middle finger phalanx"} {"id":"HP:0100917","name":"Sclerosis of proximal finger phalanx"} {"id":"HP:0100918","name":"Sclerosis of 2nd finger phalanx"} {"id":"HP:0100919","name":"Sclerosis of 3rd finger phalanx"} {"id":"HP:0100920","name":"Sclerosis of 4th finger phalanx"} {"id":"HP:0100921","name":"Sclerosis of 5th finger phalanx"} {"id":"HP:0100922","name":"Sclerosis of thumb phalanx"} {"id":"HP:0100923","name":"Clavicular sclerosis"} {"id":"HP:0100924","name":"Sclerosis of toe phalanx"} {"id":"HP:0100925","name":"Sclerosis of foot bone"} {"id":"HP:0100926","name":"Sclerosis of 2nd toe phalanx"} {"id":"HP:0100927","name":"Sclerosis of 3rd toe phalanx"} {"id":"HP:0100928","name":"Sclerosis of 4th toe phalanx"} {"id":"HP:0100929","name":"Sclerosis of 5th toe phalanx"} {"id":"HP:0100930","name":"Sclerosis of hallux phalanx"} {"id":"HP:0100931","name":"Sclerosis of the proximal phalanx of the 2nd toe"} {"id":"HP:0100932","name":"Sclerosis of the proximal phalanx of the 3rd toe"} {"id":"HP:0100933","name":"Sclerosis of the proximal phalanx of the 4th toe"} {"id":"HP:0100934","name":"Sclerosis of the proximal phalanx of the 5th toe"} {"id":"HP:0100935","name":"Sclerosis of the middle phalanx of the 2nd toe"} {"id":"HP:0100936","name":"Sclerosis of the middle phalanx of the 3rd toe"} {"id":"HP:0100937","name":"Sclerosis of the middle phalanx of the 4th toe"} {"id":"HP:0100938","name":"Sclerosis of the middle phalanx of the 5th toe"} {"id":"HP:0100939","name":"Sclerosis of the distal phalanx of the 2nd toe"} {"id":"HP:0100940","name":"Sclerosis of the distal phalanx of the 3rd toe"} {"id":"HP:0100941","name":"Sclerosis of the distal phalanx of the 4th toe"} {"id":"HP:0100942","name":"Sclerosis of the distal phalanx of the 5th toe"} {"id":"HP:0100943","name":"Sclerosis of the proximal phalanx of the hallux"} {"id":"HP:0100944","name":"Sclerosis of the distal phalanx of the hallux"} {"id":"HP:0100945","name":"Sclerosis of the 1st metatarsal"} {"id":"HP:0100946","name":"Sclerosis of proximal toe phalanx"} {"id":"HP:0100947","name":"Sclerosis of middle toe phalanx"} {"id":"HP:0100948","name":"Sclerosis of distal toe phalanx"} {"id":"HP:0100950","name":"Long chain 3 hydroxyacyl coA dehydrogenase deficiency"} {"id":"HP:0100951","name":"Enlarged fossa interpeduncularis"} {"id":"HP:0100952","name":"Enlarged sylvian cistern"} {"id":"HP:0100953","name":"Enlarged interhemispheric fissure"} {"id":"HP:0100954","name":"Open operculum"} {"id":"HP:0100955","name":"Giant cell granuloma of mandible"} {"id":"HP:0100957","name":"Abnormality of the renal medulla"} {"id":"HP:0100958","name":"Narrow foramen obturatorium"} {"id":"HP:0100959","name":"Dense metaphyseal bands"} {"id":"HP:0100960","name":"Asymmetric ventricles"} {"id":"HP:0100961","name":"Enlarged hippocampus"} {"id":"HP:0100962","name":"Shyness"} {"id":"HP:0100963","name":"Hyperesthesia"} {"id":"HP:0200000","name":"Dysharmonic bone age"} {"id":"HP:0200001","name":"Dysharmonic accelerated bone age"} {"id":"HP:0200003","name":"Splayed epiphyses"} {"id":"HP:0200005","name":"Abnormal shape of the palpebral fissure"} {"id":"HP:0200006","name":"Slanting of the palpebral fissure"} {"id":"HP:0200007","name":"Abnormal size of the palpebral fissures"} {"id":"HP:0200008","name":"Intestinal polyposis"} {"id":"HP:0200011","name":"Abnormal length of corpus callosum"} {"id":"HP:0200012","name":"Short corpus callosum"} {"id":"HP:0200013","name":"Neoplasm of fatty tissue"} {"id":"HP:0200015","name":"Symmetric great toe depigmentation"} {"id":"HP:0200016","name":"Acrokeratosis"} {"id":"HP:0200017","name":"Cerebral white matter agenesis"} {"id":"HP:0200018","name":"Protanomaly"} {"id":"HP:0200020","name":"Corneal erosion"} {"id":"HP:0200021","name":"Down-sloping shoulders"} {"id":"HP:0200022","name":"Choroid plexus papilloma"} {"id":"HP:0200023","name":"Priapism"} {"id":"HP:0200024","name":"Premature chromatid separation"} {"id":"HP:0200025","name":"Mandibular pain"} {"id":"HP:0200026","name":"Ocular pain"} {"id":"HP:0200028","name":"Pretibial myxedema"} {"id":"HP:0200029","name":"Vasculitis in the skin"} {"id":"HP:0200030","name":"Punctate vasculitis skin lesions"} {"id":"HP:0200032","name":"Kayser-Fleischer ring"} {"id":"HP:0200034","name":"Papule"} {"id":"HP:0200035","name":"Skin plaque"} {"id":"HP:0200036","name":"Skin nodule"} {"id":"HP:0200037","name":"Skin vesicle"} {"id":"HP:0200039","name":"Pustule"} {"id":"HP:0200040","name":"Epidermoid cyst"} {"id":"HP:0200041","name":"Skin erosion"} {"id":"HP:0200042","name":"Skin ulcer"} {"id":"HP:0200043","name":"Verrucae"} {"id":"HP:0200044","name":"Porokeratosis"} {"id":"HP:0200046","name":"Cat cry"} {"id":"HP:0200047","name":"Chondritis of pinna"} {"id":"HP:0200048","name":"Cyanotic episode"} {"id":"HP:0200049","name":"Upper limb hypertonia"} {"id":"HP:0200050","name":"Bracket metacarpal epiphyses"} {"id":"HP:0200053","name":"Hemihypotrophy of lower limb"} {"id":"HP:0200054","name":"Monodactyly (feet)"} {"id":"HP:0200055","name":"Small hand"} {"id":"HP:0200056","name":"Macular scarring"} {"id":"HP:0200057","name":"Marcus Gunn pupil"} {"id":"HP:0200058","name":"Angiosarcoma"} {"id":"HP:0200059","name":"Metastatic angiosarcoma"} {"id":"HP:0200063","name":"Colorectal polyposis"} {"id":"HP:0200064","name":"Asymmetry of iris pigmentation"} {"id":"HP:0200065","name":"Choroidoretinal degeneration"} {"id":"HP:0200066","name":"Ribbonlike corneal degeneration"} {"id":"HP:0200067","name":"Recurrent spontaneous abortion"} {"id":"HP:0200068","name":"Nonprogressive visual loss"} {"id":"HP:0200070","name":"Peripheral retinal atrophy"} {"id":"HP:0200071","name":"Peripheral vitreoretinal degeneration"} {"id":"HP:0200072","name":"Episodic quadriplegia"} {"id":"HP:0200073","name":"Respiratory insufficiency due to defective ciliary clearance"} {"id":"HP:0200083","name":"Severe limb shortening"} {"id":"HP:0200084","name":"Giant cell hepatitis"} {"id":"HP:0200085","name":"Limb tremor"} {"id":"HP:0200094","name":"Frontal open bite"} {"id":"HP:0200095","name":"Anterior open bite"} {"id":"HP:0200096","name":"Triangular-shaped open mouth"} {"id":"HP:0200097","name":"Oral mucosal blisters"} {"id":"HP:0200098","name":"Absent skin pigmentation"} {"id":"HP:0200099","name":"Peripheral retinal pigmentation abnormalities"} {"id":"HP:0200101","name":"Decreased/absent ankle reflexes"} {"id":"HP:0200102","name":"Sparse or absent eyelashes"} {"id":"HP:0200104","name":"Absent fifth fingernail"} {"id":"HP:0200105","name":"Absent fifth toenail"} {"id":"HP:0200106","name":"Absent/shortened dynein arms"} {"id":"HP:0200107","name":"Shortened inner dynein arms"} {"id":"HP:0200108","name":"Shortened outer dynein arms"} {"id":"HP:0200109","name":"Absent/shortened outer dynein arms"} {"id":"HP:0200111","name":"Absent stapes head"} {"id":"HP:0200113","name":"Aphalangy of hands and feet"} {"id":"HP:0200114","name":"Metabolic alkalosis"} {"id":"HP:0200115","name":"Scalp hair loss"} {"id":"HP:0200116","name":"Distal ileal atresia"} {"id":"HP:0200117","name":"Recurrent upper and lower respiratory tract infections"} {"id":"HP:0200118","name":"Malabsorption of Vitamin B12"} {"id":"HP:0200119","name":"Acute hepatitis"} {"id":"HP:0200120","name":"Chronic active hepatitis"} {"id":"HP:0200122","name":"Atypical or prolonged hepatitis"} {"id":"HP:0200123","name":"Chronic hepatitis"} {"id":"HP:0200124","name":"Chronic hepatitis due to cryptospridium infection"} {"id":"HP:0200125","name":"Mitochondrial respiratory chain defects"} {"id":"HP:0200126","name":"Amyolid cardiomyopathy"} {"id":"HP:0200127","name":"Atrial cardiomyopathy"} {"id":"HP:0200128","name":"Biventricular hypertrophy"} {"id":"HP:0200129","name":"Calcific mitral stenosis"} {"id":"HP:0200133","name":"Lumbosacral meningocele"} {"id":"HP:0200134","name":"Epileptic encephalopathy"} {"id":"HP:0200136","name":"Oral-pharyngeal dysphagia"} {"id":"HP:0200138","name":"Bilateral choanal atresia/stenosis"} {"id":"HP:0200141","name":"Small, conical teeth"} {"id":"HP:0200143","name":"Megaloblastic erythroid hyperplasia"} {"id":"HP:0200144","name":"Anaphylactoid purpura"} {"id":"HP:0200146","name":"Cystic medial necrosis of the aorta"} {"id":"HP:0200147","name":"Neuronal loss in basal ganglia"} {"id":"HP:0200148","name":"Abnormal liver function tests during pregnancy"} {"id":"HP:0200149","name":"CSF lymphocytic pleiocytosis"} {"id":"HP:0200150","name":"Increased serum bile acid concentration during pregnancy"} {"id":"HP:0200151","name":"Cutaneous mastocytosis"} {"id":"HP:0200153","name":"Agenesis of lateral incisor"} {"id":"HP:0200154","name":"Agenesis of mandibular lateral incisor"} {"id":"HP:0200158","name":"Agenesis of permanent mandibular lateral incisor"} {"id":"HP:0200159","name":"Agenesis of primary mandibular lateral incisor"} {"id":"HP:0200160","name":"Agenesis of maxillary incisor"} {"id":"HP:0200161","name":"Agenesis of mandibular incisor"} {"id":"HP:0400000","name":"Tall chin"} {"id":"HP:0400001","name":"Chin with vertical crease"} {"id":"HP:0400002","name":"Extra concha fold"} {"id":"HP:0400003","name":"Focal absence of the external ear"} {"id":"HP:0400004","name":"Long ear"} {"id":"HP:0400005","name":"Short ear"} {"id":"HP:0400007","name":"Polymenorrhea"} {"id":"HP:0400008","name":"Menometrorrhagia"} {"id":"HP:0410000","name":"Abnormality of vomer"} {"id":"HP:0410003","name":"Cleft primary palate"} {"id":"HP:0410004","name":"Cleft secondary palate"} {"id":"HP:0410005","name":"Cleft hard palate"} {"id":"HP:0430000","name":"Abnormality of the frontal bone"} {"id":"HP:0430002","name":"Abnormality of the lacrimal bone"} {"id":"HP:0430003","name":"Abnormality of the palatine bone"} {"id":"HP:0430004","name":"Frontomalar faciosynostosis"} {"id":"HP:0430005","name":"Abnormality of ethmoid bone"} {"id":"HP:0430006","name":"Ectopic cilia of eyelid"} {"id":"HP:0430007","name":"Symblepharon"} {"id":"HP:0430008","name":"Accessory eyelid"} {"id":"HP:0430009","name":"Hypoplasia of eyelid"} {"id":"HP:0430010","name":"Microblepharia"} {"id":"HP:0430011","name":"Defect of palpebral conjunctiva"} {"id":"HP:0430012","name":"Incomplete ossification of palatine bone"} {"id":"HP:0430013","name":"Absent palatine bone ossification"} {"id":"HP:3000001","name":"Abnormal heart morphology"}