{ "HP:0000001": "All", "HP:0000002": "Abnormality of body height", "HP:0000003": "Multicystic kidney dysplasia", "HP:0000005": "Mode of inheritance", "HP:0000006": "Autosomal dominant inheritance", "HP:0000007": "Autosomal recessive inheritance", "HP:0000008": "Abnormal morphology of female internal genitalia", "HP:0000009": "Functional abnormality of the bladder", "HP:0000010": "Recurrent urinary tract infections", "HP:0000011": "Neurogenic bladder", "HP:0000012": "Urinary urgency", "HP:0000013": "Hypoplasia of the uterus", "HP:0000014": "Abnormality of the bladder", "HP:0000015": "Bladder diverticulum", "HP:0000016": "Urinary retention", "HP:0000017": "Nocturia", "HP:0000019": "Urinary hesitancy", "HP:0000020": "Urinary incontinence", "HP:0000021": "Megacystis", "HP:0000022": "Abnormal male internal genitalia morphology", "HP:0000023": "Inguinal hernia", "HP:0000024": "Prostatitis", "HP:0000025": "Functional abnormality of male internal genitalia", "HP:0000026": "Male hypogonadism", "HP:0000027": "Azoospermia", "HP:0000028": "Cryptorchidism", "HP:0000029": "Testicular atrophy", "HP:0000030": "Testicular gonadoblastoma", "HP:0000031": "Epididymitis", "HP:0000032": "Abnormality of male external genitalia", "HP:0000033": "Ambiguous genitalia, male", "HP:0000034": "Hydrocele testis", "HP:0000035": "Abnormal testis morphology", "HP:0000036": "Abnormal penis morphology", "HP:0000037": "Male pseudohermaphroditism", "HP:0000039": "Epispadias", "HP:0000040": "Long penis", "HP:0000041": "Chordee", "HP:0000042": "Absent external genitalia", "HP:0000044": "Hypogonadotropic hypogonadism", "HP:0000045": "Abnormality of the scrotum", "HP:0000046": "Small scrotum", "HP:0000047": "Hypospadias", "HP:0000048": "Bifid scrotum", "HP:0000049": "Shawl scrotum", "HP:0000050": "Hypoplastic male external genitalia", "HP:0000051": "Perineal hypospadias", "HP:0000052": "Urethral atresia, male", "HP:0000053": "Macroorchidism", "HP:0000054": "Micropenis", "HP:0000055": "Abnormality of female external genitalia", "HP:0000056": "Abnormality of the clitoris", "HP:0000058": "Abnormal labia morphology", "HP:0000059": "Hypoplastic labia majora", "HP:0000060": "Clitoral hypoplasia", "HP:0000061": "Ambiguous genitalia, female", "HP:0000062": "Ambiguous genitalia", "HP:0000063": "Fused labia minora", "HP:0000064": "Hypoplastic labia minora", "HP:0000065": "Labial hypertrophy", "HP:0000066": "Labial hypoplasia", "HP:0000067": "Urethral atresia, female", "HP:0000068": "Urethral atresia", "HP:0000069": "Abnormality of the ureter", "HP:0000070": "Ureterocele", "HP:0000071": "Ureteral stenosis", "HP:0000072": "Hydroureter", "HP:0000073": "Ureteral duplication", "HP:0000074": "Ureteropelvic junction obstruction", "HP:0000075": "Renal duplication", "HP:0000076": "Vesicoureteral reflux", "HP:0000077": "Abnormality of the kidney", "HP:0000078": "Abnormality of the genital system", "HP:0000079": "Abnormality of the urinary system", "HP:0000080": "Abnormality of reproductive system physiology", "HP:0000081": "Duplicated collecting system", "HP:0000083": "Renal insufficiency", "HP:0000085": "Horseshoe kidney", "HP:0000086": "Ectopic kidney", "HP:0000089": "Renal hypoplasia", "HP:0000090": "Nephronophthisis", "HP:0000091": "Abnormal renal tubule morphology", "HP:0000092": "Renal tubular atrophy", "HP:0000093": "Proteinuria", "HP:0000095": "Abnormal renal glomerulus morphology", "HP:0000096": "Glomerular sclerosis", "HP:0000097": "Focal segmental glomerulosclerosis", "HP:0000098": "Tall stature", "HP:0000099": "Glomerulonephritis", "HP:0000100": "Nephrotic syndrome", "HP:0000103": "Polyuria", "HP:0000104": "Renal agenesis", "HP:0000105": "Enlarged kidney", "HP:0000107": "Renal cyst", "HP:0000108": "Renal corticomedullary cysts", "HP:0000110": "Renal dysplasia", "HP:0000111": "Renal juxtaglomerular cell hypertrophy/hyperplasia", "HP:0000112": "Nephropathy", "HP:0000113": "Polycystic kidney dysplasia", "HP:0000114": "Proximal tubulopathy", "HP:0000117": "Renal phosphate wasting", "HP:0000118": "Phenotypic abnormality", "HP:0000119": "Abnormality of the genitourinary system", "HP:0000121": "Nephrocalcinosis", "HP:0000122": "Unilateral renal agenesis", "HP:0000123": "Nephritis", "HP:0000124": "Renal tubular dysfunction", "HP:0000125": "Pelvic kidney", "HP:0000126": "Hydronephrosis", "HP:0000127": "Renal salt wasting", "HP:0000128": "Renal potassium wasting", "HP:0000130": "Abnormality of the uterus", "HP:0000131": "Uterine leiomyoma", "HP:0000132": "Menorrhagia", "HP:0000133": "Gonadal dysgenesis", "HP:0000134": "Female hypogonadism", "HP:0000135": "Hypogonadism", "HP:0000136": "Bifid uterus", "HP:0000137": "Abnormality of the ovary", "HP:0000138": "Ovarian cyst", "HP:0000139": "Uterine prolapse", "HP:0000140": "Abnormality of the menstrual cycle", "HP:0000141": "Amenorrhea", "HP:0000142": "Abnormal vagina morphology", "HP:0000143": "Rectovaginal fistula", "HP:0000144": "Decreased fertility", "HP:0000145": "Transverse vaginal septum", "HP:0000147": "Polycystic ovaries", "HP:0000148": "Vaginal atresia", "HP:0000149": "Ovarian gonadoblastoma", "HP:0000150": "Gonadoblastoma", "HP:0000151": "Aplasia of the uterus", "HP:0000152": "Abnormality of head or neck", "HP:0000153": "Abnormality of the mouth", "HP:0000154": "Wide mouth", "HP:0000155": "Oral ulcer", "HP:0000157": "Abnormality of the tongue", "HP:0000158": "Macroglossia", "HP:0000159": "Abnormal lip morphology", "HP:0000160": "Narrow mouth", "HP:0000161": "Median cleft lip", "HP:0000162": "Glossoptosis", "HP:0000163": "Abnormal oral cavity morphology", "HP:0000164": "Abnormality of the dentition", "HP:0000166": "Severe periodontitis", "HP:0000168": "Abnormality of the gingiva", "HP:0000169": "Gingival fibromatosis", "HP:0000171": "Microglossia", "HP:0000172": "Abnormal uvula morphology", "HP:0000174": "Abnormal palate morphology", "HP:0000175": "Cleft palate", "HP:0000176": "Submucous cleft hard palate", "HP:0000177": "Abnormal upper lip morphology", "HP:0000178": "Abnormal lower lip morphology", "HP:0000179": "Thick lower lip vermilion", "HP:0000180": "Lobulated tongue", "HP:0000182": "Movement abnormality of the tongue", "HP:0000183": "Difficulty in tongue movements", "HP:0000185": "Cleft soft palate", "HP:0000187": "Broad alveolar ridges", "HP:0000188": "Short upper lip", "HP:0000189": "Narrow palate", "HP:0000190": "Abnormal oral frenulum morphology", "HP:0000191": "Accessory oral frenulum", "HP:0000193": "Bifid uvula", "HP:0000194": "Open mouth", "HP:0000196": "Lower lip pit", "HP:0000197": "Abnormal parotid gland morphology", "HP:0000198": "Absence of Stensen duct", "HP:0000199": "Tongue nodules", "HP:0000200": "Short lingual frenulum", "HP:0000201": "Pierre-Robin sequence", "HP:0000202": "Orofacial cleft", "HP:0000204": "Cleft upper lip", "HP:0000205": "Pursed lips", "HP:0000206": "Glossitis", "HP:0000207": "Triangular mouth", "HP:0000211": "Trismus", "HP:0000212": "Gingival overgrowth", "HP:0000214": "Lip telangiectasia", "HP:0000215": "Thick upper lip vermilion", "HP:0000216": "Broad secondary alveolar ridge", "HP:0000217": "Xerostomia", "HP:0000218": "High palate", "HP:0000219": "Thin upper lip vermilion", "HP:0000220": "Velopharyngeal insufficiency", "HP:0000221": "Furrowed tongue", "HP:0000222": "Gingival hyperkeratosis", "HP:0000223": "Abnormality of taste sensation", "HP:0000224": "Hypogeusia", "HP:0000225": "Gingival bleeding", "HP:0000227": "Tongue telangiectasia", "HP:0000228": "Oral cavity telangiectasia", "HP:0000230": "Gingivitis", "HP:0000232": "Everted lower lip vermilion", "HP:0000233": "Thin vermilion border", "HP:0000234": "Abnormality of the head", "HP:0000235": "Abnormality of the fontanelles or cranial sutures", "HP:0000236": "Abnormality of the anterior fontanelle", "HP:0000237": "Small anterior fontanelle", "HP:0000238": "Hydrocephalus", "HP:0000239": "Large fontanelles", "HP:0000240": "Abnormality of skull size", "HP:0000242": "Parietal bossing", "HP:0000243": "Trigonocephaly", "HP:0000244": "Brachyturricephaly", "HP:0000245": "Abnormal paranasal sinus morphology", "HP:0000246": "Sinusitis", "HP:0000248": "Brachycephaly", "HP:0000250": "Dense calvaria", "HP:0000252": "Microcephaly", "HP:0000253": "Progressive microcephaly", "HP:0000255": "Acute sinusitis", "HP:0000256": "Macrocephaly", "HP:0000260": "Wide anterior fontanel", "HP:0000262": "Turricephaly", "HP:0000263": "Oxycephaly", "HP:0000264": "Abnormal mastoid morphology", "HP:0000265": "Mastoiditis", "HP:0000267": "Cranial asymmetry", "HP:0000268": "Dolichocephaly", "HP:0000269": "Prominent occiput", "HP:0000270": "Delayed cranial suture closure", "HP:0000271": "Abnormality of the face", "HP:0000272": "Malar flattening", "HP:0000273": "Facial grimacing", "HP:0000274": "Small face", "HP:0000275": "Narrow face", "HP:0000276": "Long face", "HP:0000277": "Abnormal mandible morphology", "HP:0000278": "Retrognathia", "HP:0000280": "Coarse facial features", "HP:0000282": "Facial edema", "HP:0000283": "Broad face", "HP:0000286": "Epicanthus", "HP:0000287": "Increased facial adipose tissue", "HP:0000288": "Abnormality of the philtrum", "HP:0000289": "Broad philtrum", "HP:0000290": "Abnormality of the forehead", "HP:0000291": "Abnormality of facial adipose tissue", "HP:0000292": "Loss of facial adipose tissue", "HP:0000293": "Full cheeks", "HP:0000294": "Low anterior hairline", "HP:0000295": "Doll-like facies", "HP:0000297": "Facial hypotonia", "HP:0000298": "Mask-like facies", "HP:0000300": "Oval face", "HP:0000301": "Abnormality of facial musculature", "HP:0000303": "Mandibular prognathia", "HP:0000306": "Abnormality of the chin", "HP:0000307": "Pointed chin", "HP:0000308": "Microretrognathia", "HP:0000309": "Abnormal midface morphology", "HP:0000311": "Round face", "HP:0000315": "Abnormality of the orbital region", "HP:0000316": "Hypertelorism", "HP:0000317": "Facial myokymia", "HP:0000319": "Smooth philtrum", "HP:0000320": "Bird-like facies", "HP:0000321": "Square face", "HP:0000322": "Short philtrum", "HP:0000324": "Facial asymmetry", "HP:0000325": "Triangular face", "HP:0000326": "Abnormal maxilla morphology", "HP:0000327": "Hypoplasia of the maxilla", "HP:0000329": "Facial hemangioma", "HP:0000331": "Short chin", "HP:0000336": "Prominent supraorbital ridges", "HP:0000337": "Broad forehead", "HP:0000338": "Hypomimic face", "HP:0000339": "Pugilistic facies", "HP:0000340": "Sloping forehead", "HP:0000341": "Narrow forehead", "HP:0000343": "Long philtrum", "HP:0000346": "Whistling appearance", "HP:0000347": "Micrognathia", "HP:0000348": "High forehead", "HP:0000349": "Widow's peak", "HP:0000350": "Small forehead", "HP:0000356": "Abnormality of the outer ear", "HP:0000357": "Abnormal location of ears", "HP:0000358": "Posteriorly rotated ears", "HP:0000359": "Abnormality of the inner ear", "HP:0000360": "Tinnitus", "HP:0000362": "Otosclerosis", "HP:0000363": "Abnormal earlobe morphology", "HP:0000364": "Hearing abnormality", "HP:0000365": "Hearing impairment", "HP:0000366": "Abnormality of the nose", "HP:0000368": "Low-set, posteriorly rotated ears", "HP:0000369": "Low-set ears", "HP:0000370": "Abnormality of the middle ear", "HP:0000371": "Acute otitis media", "HP:0000372": "Abnormality of the auditory canal", "HP:0000375": "Abnormal cochlea morphology", "HP:0000376": "Incomplete partition of the cochlea type II", "HP:0000377": "Abnormal pinna morphology", "HP:0000378": "Cupped ear", "HP:0000381": "Stapes ankylosis", "HP:0000383": "Abnormal periauricular region morphology", "HP:0000384": "Preauricular skin tag", "HP:0000385": "Small earlobe", "HP:0000387": "Absent earlobe", "HP:0000388": "Otitis media", "HP:0000389": "Chronic otitis media", "HP:0000391": "Thickened helices", "HP:0000394": "Lop ear", "HP:0000395": "Prominent antihelix", "HP:0000396": "Overfolded helix", "HP:0000399": "Prelingual sensorineural hearing impairment", "HP:0000400": "Macrotia", "HP:0000402": "Stenosis of the external auditory canal", "HP:0000403": "Recurrent otitis media", "HP:0000405": "Conductive hearing impairment", "HP:0000407": "Sensorineural hearing impairment", "HP:0000408": "Progressive sensorineural hearing impairment", "HP:0000410": "Mixed hearing impairment", "HP:0000411": "Protruding ear", "HP:0000413": "Atresia of the external auditory canal", "HP:0000414": "Bulbous nose", "HP:0000415": "Abnormality of the choanae", "HP:0000417": "Slender nose", "HP:0000418": "Narrow nasal ridge", "HP:0000419": "Abnormal nasal septum morphology", "HP:0000420": "Short nasal septum", "HP:0000421": "Epistaxis", "HP:0000422": "Abnormal nasal bridge morphology", "HP:0000426": "Prominent nasal bridge", "HP:0000429": "Abnormal morphology of the nasal alae", "HP:0000430": "Underdeveloped nasal alae", "HP:0000431": "Wide nasal bridge", "HP:0000433": "Abnormal nasal mucosa morphology", "HP:0000434": "Nasal mucosa telangiectasia", "HP:0000436": "Abnormal nasal tip morphology", "HP:0000437": "Depressed nasal tip", "HP:0000444": "Convex nasal ridge", "HP:0000445": "Wide nose", "HP:0000446": "Narrow nasal bridge", "HP:0000447": "Pear-shaped nose", "HP:0000448": "Prominent nose", "HP:0000451": "Triangular nasal tip", "HP:0000452": "Choanal stenosis", "HP:0000453": "Choanal atresia", "HP:0000454": "Flared nostrils", "HP:0000455": "Broad nasal tip", "HP:0000456": "Bifid nasal tip", "HP:0000457": "Depressed nasal ridge", "HP:0000458": "Anosmia", "HP:0000460": "Narrow nose", "HP:0000463": "Anteverted nares", "HP:0000464": "Abnormality of the neck", "HP:0000465": "Webbed neck", "HP:0000466": "Limited neck range of motion", "HP:0000467": "Neck muscle weakness", "HP:0000468": "Increased adipose tissue around the neck", "HP:0000470": "Short neck", "HP:0000471": "Gastrointestinal angiodysplasia", "HP:0000472": "Long neck", "HP:0000473": "Torticollis", "HP:0000474": "Thickened nuchal skin fold", "HP:0000475": "Broad neck", "HP:0000476": "Cystic hygroma", "HP:0000478": "Abnormality of the eye", "HP:0000479": "Abnormal retinal morphology", "HP:0000480": "Retinal coloboma", "HP:0000481": "Abnormal cornea morphology", "HP:0000482": "Microcornea", "HP:0000483": "Astigmatism", "HP:0000484": "Hyperopic astigmatism", "HP:0000485": "Megalocornea", "HP:0000486": "Strabismus", "HP:0000488": "Retinopathy", "HP:0000490": "Deeply set eye", "HP:0000491": "Keratitis", "HP:0000492": "Abnormal eyelid morphology", "HP:0000493": "Abnormal foveal morphology", "HP:0000494": "Downslanted palpebral fissures", "HP:0000495": "Recurrent corneal erosions", "HP:0000496": "Abnormality of eye movement", "HP:0000497": "Globe retraction and deviation on abduction", "HP:0000498": "Blepharitis", "HP:0000499": "Abnormal eyelash morphology", "HP:0000501": "Glaucoma", "HP:0000502": "Abnormal conjunctiva morphology", "HP:0000503": "Tortuosity of conjunctival vessels", "HP:0000504": "Abnormality of vision", "HP:0000505": "Visual impairment", "HP:0000506": "Telecanthus", "HP:0000508": "Ptosis", "HP:0000509": "Conjunctivitis", "HP:0000510": "Rod-cone dystrophy", "HP:0000511": "Vertical supranuclear gaze palsy", "HP:0000512": "Abnormal electroretinogram", "HP:0000514": "Slow saccadic eye movements", "HP:0000517": "Abnormal lens morphology", "HP:0000518": "Cataract", "HP:0000519": "Developmental cataract", "HP:0000520": "Proptosis", "HP:0000522": "Alacrima", "HP:0000523": "Subcapsular cataract", "HP:0000524": "Conjunctival telangiectasia", "HP:0000525": "Abnormality iris morphology", "HP:0000526": "Aniridia", "HP:0000527": "Long eyelashes", "HP:0000528": "Anophthalmia", "HP:0000529": "Progressive visual loss", "HP:0000531": "Corneal crystals", "HP:0000532": "Abnormal chorioretinal morphology", "HP:0000533": "Chorioretinal atrophy", "HP:0000534": "Abnormal eyebrow morphology", "HP:0000537": "Epicanthus inversus", "HP:0000538": "Pseudopapilledema", "HP:0000539": "Abnormality of refraction", "HP:0000540": "Hypermetropia", "HP:0000541": "Retinal detachment", "HP:0000542": "Impaired ocular adduction", "HP:0000543": "Optic disc pallor", "HP:0000544": "External ophthalmoplegia", "HP:0000545": "Myopia", "HP:0000546": "Retinal degeneration", "HP:0000548": "Cone/cone-rod dystrophy", "HP:0000549": "Abnormal conjugate eye movement", "HP:0000550": "Undetectable electroretinogram", "HP:0000551": "Color vision defect", "HP:0000552": "Tritanomaly", "HP:0000553": "Abnormal uvea morphology", "HP:0000554": "Uveitis", "HP:0000555": "Leukocoria", "HP:0000556": "Retinal dystrophy", "HP:0000557": "Buphthalmos", "HP:0000558": "Rieger anomaly", "HP:0000559": "Corneal scarring", "HP:0000561": "Absent eyelashes", "HP:0000563": "Keratoconus", "HP:0000564": "Lacrimal duct atresia", "HP:0000565": "Esotropia", "HP:0000567": "Chorioretinal coloboma", "HP:0000568": "Microphthalmia", "HP:0000570": "Abnormal saccadic eye movements", "HP:0000571": "Hypometric saccades", "HP:0000572": "Visual loss", "HP:0000573": "Retinal hemorrhage", "HP:0000574": "Thick eyebrow", "HP:0000575": "Scotoma", "HP:0000576": "Centrocecal scotoma", "HP:0000577": "Exotropia", "HP:0000579": "Nasolacrimal duct obstruction", "HP:0000580": "Pigmentary retinopathy", "HP:0000581": "Blepharophimosis", "HP:0000582": "Upslanted palpebral fissure", "HP:0000584": "Punctate corneal epithelial erosions", "HP:0000585": "Band keratopathy", "HP:0000586": "Shallow orbits", "HP:0000587": "Abnormal optic nerve morphology", "HP:0000588": "Optic disc coloboma", "HP:0000589": "Coloboma", "HP:0000590": "Progressive external ophthalmoplegia", "HP:0000591": "Abnormal sclera morphology", "HP:0000592": "Blue sclerae", "HP:0000593": "Abnormal anterior chamber morphology", "HP:0000594": "Shallow anterior chamber", "HP:0000597": "Ophthalmoparesis", "HP:0000598": "Abnormality of the ear", "HP:0000599": "Abnormality of the frontal hairline", "HP:0000600": "Abnormality of the pharynx", "HP:0000601": "Hypotelorism", "HP:0000602": "Ophthalmoplegia", "HP:0000603": "Central scotoma", "HP:0000605": "Supranuclear gaze palsy", "HP:0000606": "Abnormality of the periorbital region", "HP:0000607": "Periorbital wrinkles", "HP:0000608": "Macular degeneration", "HP:0000609": "Optic nerve hypoplasia", "HP:0000610": "Abnormal choroid morphology", "HP:0000612": "Iris coloboma", "HP:0000613": "Photophobia", "HP:0000614": "Abnormal nasolacrimal system morphology", "HP:0000615": "Abnormal pupil morphology", "HP:0000616": "Miosis", "HP:0000617": "Abnormality of ocular smooth pursuit", "HP:0000618": "Blindness", "HP:0000619": "Impaired convergence", "HP:0000620": "Dacryocystitis", "HP:0000621": "Entropion", "HP:0000622": "Blurred vision", "HP:0000623": "Supranuclear ophthalmoplegia", "HP:0000625": "Eyelid coloboma", "HP:0000627": "Posterior embryotoxon", "HP:0000629": "Periorbital fullness", "HP:0000630": "Abnormal retinal artery morphology", "HP:0000631": "Retinal arterial tortuosity", "HP:0000632": "Lacrimation abnormality", "HP:0000633": "Decreased lacrimation", "HP:0000634": "Impaired ocular abduction", "HP:0000635": "Blue irides", "HP:0000636": "Upper eyelid coloboma", "HP:0000637": "Long palpebral fissure", "HP:0000639": "Nystagmus", "HP:0000640": "Gaze-evoked nystagmus", "HP:0000641": "Dysmetric saccades", "HP:0000642": "Red-green dyschromatopsia", "HP:0000643": "Blepharospasm", "HP:0000646": "Amblyopia", "HP:0000647": "Sclerocornea", "HP:0000648": "Optic atrophy", "HP:0000649": "Abnormality of visual evoked potentials", "HP:0000650": "Abnormal amplitude of pattern reversal visual evoked potentials", "HP:0000651": "Diplopia", "HP:0000652": "Lower eyelid coloboma", "HP:0000653": "Sparse eyelashes", "HP:0000654": "Decreased light- and dark-adapted electroretinogram amplitude", "HP:0000656": "Ectropion", "HP:0000657": "Oculomotor apraxia", "HP:0000658": "Eyelid apraxia", "HP:0000659": "Peters anomaly", "HP:0000660": "Lipemia retinalis", "HP:0000661": "Palpebral fissure narrowing on adduction", "HP:0000662": "Nyctalopia", "HP:0000664": "Synophrys", "HP:0000666": "Horizontal nystagmus", "HP:0000667": "Phthisis bulbi", "HP:0000668": "Hypodontia", "HP:0000670": "Carious teeth", "HP:0000674": "Anodontia", "HP:0000675": "Macrodontia of permanent maxillary central incisor", "HP:0000676": "Abnormality of the incisor", "HP:0000677": "Oligodontia", "HP:0000678": "Dental crowding", "HP:0000679": "Taurodontia", "HP:0000680": "Delayed eruption of primary teeth", "HP:0000682": "Abnormal dental enamel morphology", "HP:0000683": "Grayish enamel", "HP:0000684": "Delayed eruption of teeth", "HP:0000685": "Hypoplasia of teeth", "HP:0000687": "Widely spaced teeth", "HP:0000689": "Dental malocclusion", "HP:0000690": "Agenesis of maxillary lateral incisor", "HP:0000691": "Microdontia", "HP:0000692": "Tooth malposition", "HP:0000694": "Odontodysplasia", "HP:0000695": "Natal tooth", "HP:0000696": "Delayed eruption of permanent teeth", "HP:0000698": "Conical tooth", "HP:0000699": "Diastema", "HP:0000700": "Periapical bone loss", "HP:0000703": "Dentinogenesis imperfecta", "HP:0000704": "Periodontitis", "HP:0000705": "Amelogenesis imperfecta", "HP:0000706": "Eruption failure", "HP:0000707": "Abnormality of the nervous system", "HP:0000708": "Atypical behavior", "HP:0000709": "Psychosis", "HP:0000710": "Hyperorality", "HP:0000711": "Restlessness", "HP:0000712": "Emotional lability", "HP:0000713": "Agitation", "HP:0000716": "Depression", "HP:0000717": "Autism", "HP:0000718": "Aggressive behavior", "HP:0000719": "Inappropriate behavior", "HP:0000721": "Lack of spontaneous play", "HP:0000722": "Compulsive behaviors", "HP:0000723": "Restrictive behavior", "HP:0000725": "Psychotic episodes", "HP:0000726": "Dementia", "HP:0000727": "Frontal lobe dementia", "HP:0000728": "Impaired ability to form peer relationships", "HP:0000729": "Autistic behavior", "HP:0000732": "Inflexible adherence to routines or rituals", "HP:0000733": "Abnormal repetitive mannerisms", "HP:0000734": "Disinhibition", "HP:0000735": "Impaired social interactions", "HP:0000736": "Short attention span", "HP:0000737": "Irritability", "HP:0000738": "Hallucinations", "HP:0000739": "Anxiety", "HP:0000740": "Episodic paroxysmal anxiety", "HP:0000741": "Apathy", "HP:0000742": "Self-mutilation", "HP:0000743": "Frontal release signs", "HP:0000744": "Low frustration tolerance", "HP:0000745": "Diminished motivation", "HP:0000746": "Delusions", "HP:0000748": "Inappropriate laughter", "HP:0000749": "Paroxysmal bursts of laughter", "HP:0000750": "Delayed speech and language development", "HP:0000751": "Personality changes", "HP:0000752": "Hyperactivity", "HP:0000753": "Autism with high cognitive abilities", "HP:0000756": "Agoraphobia", "HP:0000757": "Lack of insight", "HP:0000758": "Abnormal nonverbal communicative behavior", "HP:0000759": "Abnormal peripheral nervous system morphology", "HP:0000762": "Decreased nerve conduction velocity", "HP:0000763": "Sensory neuropathy", "HP:0000764": "Peripheral axonal degeneration", "HP:0000765": "Abnormal thorax morphology", "HP:0000766": "Abnormal sternum morphology", "HP:0000767": "Pectus excavatum", "HP:0000768": "Pectus carinatum", "HP:0000769": "Abnormality of the breast", "HP:0000771": "Gynecomastia", "HP:0000772": "Abnormal rib morphology", "HP:0000773": "Short ribs", "HP:0000774": "Narrow chest", "HP:0000775": "Abnormality of the diaphragm", "HP:0000776": "Congenital diaphragmatic hernia", "HP:0000777": "Abnormality of the thymus", "HP:0000778": "Hypoplasia of the thymus", "HP:0000782": "Abnormal scapula morphology", "HP:0000786": "Primary amenorrhea", "HP:0000787": "Nephrolithiasis", "HP:0000789": "Infertility", "HP:0000790": "Hematuria", "HP:0000791": "Uric acid nephrolithiasis", "HP:0000793": "Membranoproliferative glomerulonephritis", "HP:0000794": "IgA deposition in the glomerulus", "HP:0000795": "Abnormality of the urethra", "HP:0000796": "Urethral obstruction", "HP:0000798": "Oligospermia", "HP:0000799": "Renal steatosis", "HP:0000800": "Cystic renal dysplasia", "HP:0000802": "Impotence", "HP:0000803": "Renal cortical cysts", "HP:0000804": "Xanthine nephrolithiasis", "HP:0000805": "Enuresis", "HP:0000807": "Glandular hypospadias", "HP:0000808": "Penoscrotal hypospadias", "HP:0000809": "Urinary tract atresia", "HP:0000811": "Abnormal external genitalia", "HP:0000812": "Abnormal internal genitalia", "HP:0000813": "Bicornuate uterus", "HP:0000815": "Hypergonadotropic hypogonadism", "HP:0000816": "Abnormality of Krebs cycle metabolism", "HP:0000817": "Reduced eye contact", "HP:0000818": "Abnormality of the endocrine system", "HP:0000819": "Diabetes mellitus", "HP:0000820": "Abnormality of the thyroid gland", "HP:0000821": "Hypothyroidism", "HP:0000822": "Hypertension", "HP:0000823": "Delayed puberty", "HP:0000824": "Decreased response to growth hormone stimulation test", "HP:0000825": "Hyperinsulinemic hypoglycemia", "HP:0000826": "Precocious puberty", "HP:0000828": "Abnormality of the parathyroid gland", "HP:0000829": "Hypoparathyroidism", "HP:0000830": "Anterior hypopituitarism", "HP:0000831": "Insulin-resistant diabetes mellitus", "HP:0000832": "Primary hypothyroidism", "HP:0000834": "Abnormality of the adrenal glands", "HP:0000835": "Adrenal hypoplasia", "HP:0000836": "Hyperthyroidism", "HP:0000837": "Increased circulating gonadotropin level", "HP:0000839": "Pituitary dwarfism", "HP:0000840": "Adrenogenital syndrome", "HP:0000841": "Hyperactive renin-angiotensin system", "HP:0000842": "Hyperinsulinemia", "HP:0000843": "Hyperparathyroidism", "HP:0000845": "Elevated circulating growth hormone concentration", "HP:0000846": "Adrenal insufficiency", "HP:0000847": "Abnormality of renin-angiotensin system", "HP:0000848": "Increased circulating renin level", "HP:0000849": "Adrenocortical abnormality", "HP:0000851": "Congenital hypothyroidism", "HP:0000852": "Pseudohypoparathyroidism", "HP:0000853": "Goiter", "HP:0000854": "Thyroid adenoma", "HP:0000855": "Insulin resistance", "HP:0000857": "Neonatal insulin-dependent diabetes mellitus", "HP:0000858": "Irregular menstruation", "HP:0000859": "Hyperaldosteronism", "HP:0000860": "Parathyroid hypoplasia", "HP:0000863": "Central diabetes insipidus", "HP:0000864": "Abnormality of the hypothalamus-pituitary axis", "HP:0000866": "Euthyroid multinodular goiter", "HP:0000867": "Secondary hyperparathyroidism", "HP:0000868": "Decreased fertility in females", "HP:0000869": "Secondary amenorrhea", "HP:0000870": "Increased circulating prolactin concentration", "HP:0000871": "Panhypopituitarism", "HP:0000872": "Hashimoto thyroiditis", "HP:0000873": "Diabetes insipidus", "HP:0000875": "Episodic hypertension", "HP:0000876": "Oligomenorrhea", "HP:0000877": "Insulin-resistant diabetes mellitus at puberty", "HP:0000878": "11 pairs of ribs", "HP:0000879": "Short sternum", "HP:0000882": "Hypoplastic scapulae", "HP:0000883": "Thin ribs", "HP:0000884": "Prominent sternum", "HP:0000885": "Broad ribs", "HP:0000886": "Deformed rib cage", "HP:0000887": "Cupped ribs", "HP:0000888": "Horizontal ribs", "HP:0000889": "Abnormal clavicle morphology", "HP:0000890": "Long clavicles", "HP:0000891": "Cervical ribs", "HP:0000892": "Bifid ribs", "HP:0000893": "Bulging of the costochondral junction", "HP:0000894": "Short clavicles", "HP:0000895": "Lateral clavicle hook", "HP:0000896": "Rib exostoses", "HP:0000897": "Rachitic rosary", "HP:0000900": "Thickened ribs", "HP:0000902": "Rib fusion", "HP:0000904": "Flaring of rib cage", "HP:0000905": "Progressive clavicular acroosteolysis", "HP:0000907": "Anterior rib cupping", "HP:0000910": "Wide-cupped costochondral junctions", "HP:0000911": "Flat glenoid fossa", "HP:0000912": "Sprengel anomaly", "HP:0000913": "Posterior rib fusion", "HP:0000914": "Shield chest", "HP:0000915": "Pectus excavatum of inferior sternum", "HP:0000916": "Broad clavicles", "HP:0000917": "Superior pectus carinatum", "HP:0000918": "Scapular exostoses", "HP:0000919": "Abnormality of the costochondral junction", "HP:0000920": "Enlargement of the costochondral junction", "HP:0000921": "Missing ribs", "HP:0000922": "Posterior rib cupping", "HP:0000923": "Beaded ribs", "HP:0000924": "Abnormality of the skeletal system", "HP:0000925": "Abnormality of the vertebral column", "HP:0000926": "Platyspondyly", "HP:0000927": "Abnormality of skeletal maturation", "HP:0000929": "Abnormal skull morphology", "HP:0000930": "Elevated imprint of the transverse sinuses", "HP:0000931": "Thinning and bulging of the posterior fossa bones", "HP:0000932": "Abnormal posterior cranial fossa morphology", "HP:0000933": "Posterior fossa cyst at the fourth ventricle", "HP:0000934": "Chondrocalcinosis", "HP:0000935": "Thickened cortex of long bones", "HP:0000938": "Osteopenia", "HP:0000939": "Osteoporosis", "HP:0000940": "Abnormal diaphysis morphology", "HP:0000941": "Short diaphyses", "HP:0000943": "Dysostosis multiplex", "HP:0000944": "Abnormal metaphysis morphology", "HP:0000946": "Hypoplastic ilia", "HP:0000947": "Dumbbell-shaped long bone", "HP:0000951": "Abnormality of the skin", "HP:0000952": "Jaundice", "HP:0000953": "Hyperpigmentation of the skin", "HP:0000954": "Single transverse palmar crease", "HP:0000956": "Acanthosis nigricans", "HP:0000957": "Cafe-au-lait spot", "HP:0000958": "Dry skin", "HP:0000960": "Sacral dimple", "HP:0000961": "Cyanosis", "HP:0000962": "Hyperkeratosis", "HP:0000963": "Thin skin", "HP:0000964": "Eczema", "HP:0000965": "Cutis marmorata", "HP:0000966": "Hypohidrosis", "HP:0000967": "Petechiae", "HP:0000968": "Ectodermal dysplasia", "HP:0000969": "Edema", "HP:0000970": "Anhidrosis", "HP:0000971": "Abnormal sweat gland morphology", "HP:0000972": "Palmoplantar hyperkeratosis", "HP:0000973": "Cutis laxa", "HP:0000974": "Hyperextensible skin", "HP:0000975": "Hyperhidrosis", "HP:0000976": "Eczematoid dermatitis", "HP:0000977": "Soft skin", "HP:0000978": "Bruising susceptibility", "HP:0000979": "Purpura", "HP:0000980": "Pallor", "HP:0000982": "Palmoplantar keratoderma", "HP:0000987": "Atypical scarring of skin", "HP:0000988": "Skin rash", "HP:0000989": "Pruritus", "HP:0000991": "Xanthomatosis", "HP:0000992": "Cutaneous photosensitivity", "HP:0000993": "Molluscoid pseudotumors", "HP:0000995": "Melanocytic nevus", "HP:0000996": "Facial capillary hemangioma", "HP:0000997": "Axillary freckling", "HP:0000998": "Hypertrichosis", "HP:0000999": "Pyoderma", "HP:0001000": "Abnormality of skin pigmentation", "HP:0001001": "Abnormality of subcutaneous fat tissue", "HP:0001003": "Multiple lentigines", "HP:0001004": "Lymphedema", "HP:0001005": "Dermatological manifestations of systemic disorders", "HP:0001007": "Hirsutism", "HP:0001008": "Accumulation of melanosomes in melanocytes", "HP:0001009": "Telangiectasia", "HP:0001010": "Hypopigmentation of the skin", "HP:0001012": "Multiple lipomas", "HP:0001013": "Eruptive xanthomas", "HP:0001014": "Angiokeratoma", "HP:0001015": "Prominent superficial veins", "HP:0001017": "Anemic pallor", "HP:0001018": "Abnormal palmar dermatoglyphics", "HP:0001019": "Erythroderma", "HP:0001022": "Albinism", "HP:0001024": "Skin dimple over apex of long bone angulation", "HP:0001025": "Urticaria", "HP:0001026": "Penetrating foot ulcers", "HP:0001027": "Soft, doughy skin", "HP:0001028": "Hemangioma", "HP:0001029": "Poikiloderma", "HP:0001030": "Fragile skin", "HP:0001031": "Subcutaneous lipoma", "HP:0001032": "Absent distal interphalangeal creases", "HP:0001033": "Facial flushing after alcohol intake", "HP:0001034": "Hypermelanotic macule", "HP:0001036": "Parakeratosis", "HP:0001038": "Warfarin-induced skin necrosis", "HP:0001039": "Atheroeruptive xanthoma", "HP:0001040": "Multiple pterygia", "HP:0001041": "Facial erythema", "HP:0001042": "High axial triradius", "HP:0001043": "Prominent scalp veins", "HP:0001045": "Vitiligo", "HP:0001046": "Intermittent jaundice", "HP:0001047": "Atopic dermatitis", "HP:0001048": "Cavernous hemangioma", "HP:0001049": "Absent dorsal skin creases over affected joints", "HP:0001050": "Plethora", "HP:0001051": "Seborrheic dermatitis", "HP:0001052": "Nevus flammeus", "HP:0001053": "Hypopigmented skin patches", "HP:0001054": "Numerous nevi", "HP:0001055": "Erysipelas", "HP:0001056": "Milia", "HP:0001057": "Aplasia cutis congenita", "HP:0001058": "Poor wound healing", "HP:0001059": "Pterygium", "HP:0001060": "Axillary pterygium", "HP:0001061": "Acne", "HP:0001062": "Atypical nevus", "HP:0001063": "Acrocyanosis", "HP:0001065": "Striae distensae", "HP:0001067": "Neurofibroma", "HP:0001069": "Episodic hyperhidrosis", "HP:0001070": "Mottled pigmentation", "HP:0001071": "Angiokeratoma corporis diffusum", "HP:0001072": "Thickened skin", "HP:0001073": "Cigarette-paper scars", "HP:0001074": "Atypical nevi in non-sun exposed areas", "HP:0001075": "Atrophic scars", "HP:0001076": "Glabellar hemangioma", "HP:0001080": "Biliary tract abnormality", "HP:0001081": "Cholelithiasis", "HP:0001082": "Cholecystitis", "HP:0001083": "Ectopia lentis", "HP:0001084": "Corneal arcus", "HP:0001085": "Papilledema", "HP:0001087": "Developmental glaucoma", "HP:0001088": "Brushfield spots", "HP:0001089": "Iris atrophy", "HP:0001090": "Abnormally large globe", "HP:0001092": "Absent lacrimal punctum", "HP:0001093": "Optic nerve dysplasia", "HP:0001094": "Iridocyclitis", "HP:0001095": "Hypertensive retinopathy", "HP:0001096": "Keratoconjunctivitis", "HP:0001097": "Keratoconjunctivitis sicca", "HP:0001098": "Abnormal fundus morphology", "HP:0001099": "Fundus atrophy", "HP:0001100": "Heterochromia iridis", "HP:0001101": "Iritis", "HP:0001102": "Angioid streaks of the fundus", "HP:0001103": "Abnormal macular morphology", "HP:0001104": "Macular hypoplasia", "HP:0001105": "Retinal atrophy", "HP:0001106": "Periorbital hyperpigmentation", "HP:0001107": "Ocular albinism", "HP:0001112": "Leber optic atrophy", "HP:0001114": "Xanthelasma", "HP:0001115": "Posterior polar cataract", "HP:0001116": "Macular coloboma", "HP:0001117": "Sudden loss of visual acuity", "HP:0001118": "Juvenile cataract", "HP:0001119": "Keratoglobus", "HP:0001120": "Abnormality of corneal size", "HP:0001123": "Visual field defect", "HP:0001125": "Transient unilateral blurring of vision", "HP:0001126": "Cryptophthalmos", "HP:0001128": "Trichiasis", "HP:0001129": "Large central visual field defect", "HP:0001131": "Corneal dystrophy", "HP:0001132": "Lens subluxation", "HP:0001133": "Constriction of peripheral visual field", "HP:0001134": "Anterior polar cataract", "HP:0001135": "Chorioretinal dystrophy", "HP:0001136": "Retinal arteriolar tortuosity", "HP:0001137": "Alternating esotropia", "HP:0001138": "Optic neuropathy", "HP:0001139": "Choroideremia", "HP:0001140": "Limbal dermoid", "HP:0001141": "Severely reduced visual acuity", "HP:0001142": "Lenticonus", "HP:0001144": "Orbital cyst", "HP:0001147": "Retinal exudate", "HP:0001149": "Lattice corneal dystrophy", "HP:0001151": "Impaired horizontal smooth pursuit", "HP:0001152": "Saccadic smooth pursuit", "HP:0001153": "Septate vagina", "HP:0001155": "Abnormality of the hand", "HP:0001156": "Brachydactyly", "HP:0001159": "Syndactyly", "HP:0001161": "Hand polydactyly", "HP:0001162": "Postaxial hand polydactyly", "HP:0001166": "Arachnodactyly", "HP:0001167": "Abnormal finger morphology", "HP:0001169": "Broad palm", "HP:0001171": "Split hand", "HP:0001172": "Abnormal thumb morphology", "HP:0001176": "Large hands", "HP:0001177": "Preaxial hand polydactyly", "HP:0001178": "Ulnar claw", "HP:0001180": "Hand oligodactyly", "HP:0001181": "Adducted thumb", "HP:0001182": "Tapered finger", "HP:0001187": "Hyperextensibility of the finger joints", "HP:0001188": "Hand clenching", "HP:0001191": "Abnormal carpal morphology", "HP:0001193": "Ulnar deviation of the hand or of fingers of the hand", "HP:0001194": "Abnormalities of placenta or umbilical cord", "HP:0001195": "Single umbilical artery", "HP:0001196": "Short umbilical cord", "HP:0001197": "Abnormality of prenatal development or birth", "HP:0001199": "Triphalangeal thumb", "HP:0001204": "Distal symphalangism of hands", "HP:0001211": "Abnormal fingertip morphology", "HP:0001212": "Prominent fingertip pads", "HP:0001215": "Camptodactyly of 2nd-5th fingers", "HP:0001216": "Delayed ossification of carpal bones", "HP:0001217": "Clubbing", "HP:0001218": "Autoamputation", "HP:0001220": "Interphalangeal joint contracture of finger", "HP:0001222": "Spatulate thumbs", "HP:0001223": "Pointed proximal second through fifth metacarpals", "HP:0001225": "Wrist swelling", "HP:0001227": "Abnormality of the thenar eminence", "HP:0001230": "Broad metacarpals", "HP:0001231": "Abnormal fingernail morphology", "HP:0001232": "Nail bed telangiectasia", "HP:0001233": "2-3 finger syndactyly", "HP:0001234": "Hitchhiker thumb", "HP:0001238": "Slender finger", "HP:0001239": "Wrist flexion contracture", "HP:0001241": "Capitate-hamate fusion", "HP:0001245": "Small thenar eminence", "HP:0001248": "Short tubular bones of the hand", "HP:0001249": "Intellectual disability", "HP:0001250": "Seizure", "HP:0001251": "Ataxia", "HP:0001252": "Hypotonia", "HP:0001254": "Lethargy", "HP:0001256": "Intellectual disability, mild", "HP:0001257": "Spasticity", "HP:0001258": "Spastic paraplegia", "HP:0001259": "Coma", "HP:0001260": "Dysarthria", "HP:0001262": "Excessive daytime somnolence", "HP:0001263": "Global developmental delay", "HP:0001264": "Spastic diplegia", "HP:0001265": "Hyporeflexia", "HP:0001266": "Choreoathetosis", "HP:0001268": "Mental deterioration", "HP:0001269": "Hemiparesis", "HP:0001270": "Motor delay", "HP:0001271": "Polyneuropathy", "HP:0001272": "Cerebellar atrophy", "HP:0001273": "Abnormal corpus callosum morphology", "HP:0001274": "Agenesis of corpus callosum", "HP:0001276": "Hypertonia", "HP:0001278": "Orthostatic hypotension", "HP:0001279": "Syncope", "HP:0001281": "Tetany", "HP:0001283": "Bulbar palsy", "HP:0001284": "Areflexia", "HP:0001285": "Spastic tetraparesis", "HP:0001287": "Meningitis", "HP:0001288": "Gait disturbance", "HP:0001289": "Confusion", "HP:0001290": "Generalized hypotonia", "HP:0001291": "Abnormal cranial nerve morphology", "HP:0001293": "Cranial nerve compression", "HP:0001297": "Stroke", "HP:0001298": "Encephalopathy", "HP:0001300": "Parkinsonism", "HP:0001301": "Chronic sensorineural polyneuropathy", "HP:0001302": "Pachygyria", "HP:0001304": "Torsion dystonia", "HP:0001305": "Dandy-Walker malformation", "HP:0001308": "Tongue fasciculations", "HP:0001310": "Dysmetria", "HP:0001311": "Abnormal nervous system electrophysiology", "HP:0001312": "Giant somatosensory evoked potentials", "HP:0001315": "Reduced tendon reflexes", "HP:0001317": "Abnormal cerebellum morphology", "HP:0001319": "Neonatal hypotonia", "HP:0001320": "Cerebellar vermis hypoplasia", "HP:0001321": "Cerebellar hypoplasia", "HP:0001324": "Muscle weakness", "HP:0001325": "Hypoglycemic coma", "HP:0001326": "EEG with irregular generalized spike and wave complexes", "HP:0001327": "Photosensitive myoclonic seizure", "HP:0001328": "Specific learning disability", "HP:0001331": "Absent septum pellucidum", "HP:0001332": "Dystonia", "HP:0001334": "Communicating hydrocephalus", "HP:0001335": "Bimanual synkinesia", "HP:0001336": "Myoclonus", "HP:0001337": "Tremor", "HP:0001338": "Partial agenesis of the corpus callosum", "HP:0001339": "Lissencephaly", "HP:0001340": "Enhancement of the C-reflex", "HP:0001341": "Olfactory lobe agenesis", "HP:0001342": "Cerebral hemorrhage", "HP:0001343": "Kernicterus", "HP:0001344": "Absent speech", "HP:0001345": "Psychotic mentation", "HP:0001347": "Hyperreflexia", "HP:0001348": "Brisk reflexes", "HP:0001349": "Facial diplegia", "HP:0001350": "Slurred speech", "HP:0001351": "Jerk-locked premyoclonus spikes", "HP:0001355": "Megalencephaly", "HP:0001357": "Plagiocephaly", "HP:0001360": "Holoprosencephaly", "HP:0001361": "Nystagmus-induced head nodding", "HP:0001362": "Calvarial skull defect", "HP:0001363": "Craniosynostosis", "HP:0001367": "Abnormal joint morphology", "HP:0001369": "Arthritis", "HP:0001370": "Rheumatoid arthritis", "HP:0001371": "Flexion contracture", "HP:0001373": "Joint dislocation", "HP:0001374": "Congenital hip dislocation", "HP:0001376": "Limitation of joint mobility", "HP:0001377": "Limited elbow extension", "HP:0001382": "Joint hypermobility", "HP:0001384": "Abnormal hip joint morphology", "HP:0001385": "Hip dysplasia", "HP:0001386": "Joint swelling", "HP:0001387": "Joint stiffness", "HP:0001388": "Joint laxity", "HP:0001392": "Abnormality of the liver", "HP:0001394": "Cirrhosis", "HP:0001395": "Hepatic fibrosis", "HP:0001396": "Cholestasis", "HP:0001397": "Hepatic steatosis", "HP:0001399": "Hepatic failure", "HP:0001401": "Intrahepatic biliary dysgenesis", "HP:0001402": "Hepatocellular carcinoma", "HP:0001403": "Macrovesicular hepatic steatosis", "HP:0001404": "Hepatocellular necrosis", "HP:0001405": "Periportal fibrosis", "HP:0001406": "Intrahepatic cholestasis", "HP:0001407": "Hepatic cysts", "HP:0001408": "Bile duct proliferation", "HP:0001409": "Portal hypertension", "HP:0001410": "Decreased liver function", "HP:0001412": "Enteroviral hepatitis", "HP:0001413": "Micronodular cirrhosis", "HP:0001414": "Microvesicular hepatic steatosis", "HP:0001417": "X-linked inheritance", "HP:0001419": "X-linked recessive inheritance", "HP:0001421": "Abnormality of the musculature of the hand", "HP:0001423": "X-linked dominant inheritance", "HP:0001426": "Multifactorial inheritance", "HP:0001427": "Mitochondrial inheritance", "HP:0001428": "Somatic mutation", "HP:0001430": "Abnormality of the calf musculature", "HP:0001433": "Hepatosplenomegaly", "HP:0001435": "Abnormality of the shoulder girdle musculature", "HP:0001436": "Abnormality of the foot musculature", "HP:0001437": "Abnormality of the musculature of the lower limbs", "HP:0001438": "Abnormal abdomen morphology", "HP:0001440": "Metatarsal synostosis", "HP:0001441": "Abnormality of the musculature of the thigh", "HP:0001442": "Somatic mosaicism", "HP:0001443": "Abnormality of the gluteal musculature", "HP:0001444": "Autosomal dominant somatic cell mutation", "HP:0001445": "Abnormality of the hip-girdle musculature", "HP:0001446": "Abnormality of the musculature of the upper limbs", "HP:0001449": "Duplication of metatarsal bones", "HP:0001450": "Y-linked inheritance", "HP:0001454": "Abnormality of the upper arm", "HP:0001457": "Abnormality of the musculature of the upper arm", "HP:0001459": "1-3 toe syndactyly", "HP:0001460": "Aplasia/Hypoplasia involving the skeletal musculature", "HP:0001464": "Aplasia/Hypoplasia involving the shoulder musculature", "HP:0001465": "Amyotrophy involving the shoulder musculature", "HP:0001466": "Contiguous gene syndrome", "HP:0001467": "Aplasia/Hypoplasia involving the musculature of the upper limbs", "HP:0001468": "Aplasia/Hypoplasia involving the musculature of the upper arm", "HP:0001469": "Abnormal morphology of the pelvis musculature", "HP:0001470": "Sex-limited expression", "HP:0001471": "Aplasia/Hypoplasia of the musculature of the pelvis", "HP:0001473": "Metatarsal osteolysis", "HP:0001474": "Sclerotic scapulae", "HP:0001475": "Male-limited expression", "HP:0001476": "Delayed closure of the anterior fontanelle", "HP:0001477": "Compensatory chin elevation", "HP:0001480": "Freckling", "HP:0001482": "Subcutaneous nodule", "HP:0001483": "Eye poking", "HP:0001488": "Bilateral ptosis", "HP:0001489": "Posterior vitreous detachment", "HP:0001491": "Congenital fibrosis of extraocular muscles", "HP:0001492": "Axenfeld anomaly", "HP:0001493": "Falciform retinal fold", "HP:0001495": "Carpal osteolysis", "HP:0001498": "Carpal bone hypoplasia", "HP:0001500": "Broad finger", "HP:0001501": "6 metacarpals", "HP:0001504": "Metacarpal osteolysis", "HP:0001507": "Growth abnormality", "HP:0001508": "Failure to thrive", "HP:0001510": "Growth delay", "HP:0001511": "Intrauterine growth retardation", "HP:0001513": "Obesity", "HP:0001518": "Small for gestational age", "HP:0001519": "Disproportionate tall stature", "HP:0001520": "Large for gestational age", "HP:0001522": "Death in infancy", "HP:0001525": "Severe failure to thrive", "HP:0001528": "Hemihypertrophy", "HP:0001530": "Mild postnatal growth retardation", "HP:0001531": "Failure to thrive in infancy", "HP:0001533": "Slender build", "HP:0001537": "Umbilical hernia", "HP:0001538": "Protuberant abdomen", "HP:0001539": "Omphalocele", "HP:0001540": "Diastasis recti", "HP:0001541": "Ascites", "HP:0001543": "Gastroschisis", "HP:0001544": "Prominent umbilicus", "HP:0001545": "Anteriorly placed anus", "HP:0001547": "Abnormal rib cage morphology", "HP:0001548": "Overgrowth", "HP:0001549": "Abnormal ileum morphology", "HP:0001551": "Abnormal umbilicus morphology", "HP:0001552": "Barrel-shaped chest", "HP:0001555": "Asymmetry of the thorax", "HP:0001557": "Prenatal movement abnormality", "HP:0001558": "Decreased fetal movement", "HP:0001560": "Abnormality of the amniotic fluid", "HP:0001561": "Polyhydramnios", "HP:0001562": "Oligohydramnios", "HP:0001563": "Fetal polyuria", "HP:0001566": "Widely-spaced maxillary central incisors", "HP:0001571": "Multiple impacted teeth", "HP:0001572": "Macrodontia", "HP:0001574": "Abnormality of the integument", "HP:0001579": "Primary hypercortisolism", "HP:0001580": "Pigmented micronodular adrenocortical disease", "HP:0001581": "Recurrent skin infections", "HP:0001582": "Redundant skin", "HP:0001583": "Rotary nystagmus", "HP:0001586": "Vesicovaginal fistula", "HP:0001591": "Bell-shaped thorax", "HP:0001592": "Selective tooth agenesis", "HP:0001593": "Maxillary lateral incisor microdontia", "HP:0001595": "Abnormal hair morphology", "HP:0001596": "Alopecia", "HP:0001597": "Abnormality of the nail", "HP:0001598": "Concave nail", "HP:0001600": "Abnormality of the larynx", "HP:0001601": "Laryngomalacia", "HP:0001602": "Laryngeal stenosis", "HP:0001604": "Vocal cord paresis", "HP:0001605": "Vocal cord paralysis", "HP:0001607": "Subglottic stenosis", "HP:0001608": "Abnormality of the voice", "HP:0001609": "Hoarse voice", "HP:0001611": "Hypernasal speech", "HP:0001612": "Weak cry", "HP:0001615": "Hoarse cry", "HP:0001618": "Dysphonia", "HP:0001620": "High pitched voice", "HP:0001621": "Weak voice", "HP:0001622": "Premature birth", "HP:0001623": "Breech presentation", "HP:0001626": "Abnormality of the cardiovascular system", "HP:0001627": "Abnormal heart morphology", "HP:0001629": "Ventricular septal defect", "HP:0001631": "Atrial septal defect", "HP:0001633": "Abnormal mitral valve morphology", "HP:0001634": "Mitral valve prolapse", "HP:0001635": "Congestive heart failure", "HP:0001636": "Tetralogy of Fallot", "HP:0001637": "Abnormal myocardium morphology", "HP:0001638": "Cardiomyopathy", "HP:0001639": "Hypertrophic cardiomyopathy", "HP:0001640": "Cardiomegaly", "HP:0001641": "Abnormal pulmonary valve morphology", "HP:0001642": "Pulmonic stenosis", "HP:0001643": "Patent ductus arteriosus", "HP:0001644": "Dilated cardiomyopathy", "HP:0001645": "Sudden cardiac death", "HP:0001646": "Abnormal aortic valve morphology", "HP:0001647": "Bicuspid aortic valve", "HP:0001648": "Cor pulmonale", "HP:0001649": "Tachycardia", "HP:0001650": "Aortic valve stenosis", "HP:0001651": "Dextrocardia", "HP:0001653": "Mitral regurgitation", "HP:0001654": "Abnormal heart valve morphology", "HP:0001655": "Patent foramen ovale", "HP:0001657": "Prolonged QT interval", "HP:0001658": "Myocardial infarction", "HP:0001659": "Aortic regurgitation", "HP:0001660": "Truncus arteriosus", "HP:0001662": "Bradycardia", "HP:0001663": "Ventricular fibrillation", "HP:0001664": "Torsade de pointes", "HP:0001667": "Right ventricular hypertrophy", "HP:0001669": "Transposition of the great arteries", "HP:0001670": "Asymmetric septal hypertrophy", "HP:0001671": "Abnormal cardiac septum morphology", "HP:0001674": "Complete atrioventricular canal defect", "HP:0001677": "Coronary artery atherosclerosis", "HP:0001678": "Atrioventricular block", "HP:0001679": "Abnormal aortic morphology", "HP:0001680": "Coarctation of aorta", "HP:0001681": "Angina pectoris", "HP:0001682": "Subvalvular aortic stenosis", "HP:0001683": "Ectopia cordis", "HP:0001684": "Secundum atrial septal defect", "HP:0001685": "Myocardial fibrosis", "HP:0001686": "Loss of voice", "HP:0001688": "Sinus bradycardia", "HP:0001691": "Muscular subvalvular aortic stenosis", "HP:0001692": "Atrial arrhythmia", "HP:0001693": "Cardiac shunt", "HP:0001694": "Right-to-left shunt", "HP:0001695": "Cardiac arrest", "HP:0001696": "Situs inversus totalis", "HP:0001697": "Abnormal pericardium morphology", "HP:0001698": "Pericardial effusion", "HP:0001699": "Sudden death", "HP:0001700": "Myocardial necrosis", "HP:0001701": "Pericarditis", "HP:0001702": "Abnormal tricuspid valve morphology", "HP:0001704": "Tricuspid valve prolapse", "HP:0001705": "Right ventricular outlet tract obstruction", "HP:0001706": "Endocardial fibroelastosis", "HP:0001707": "Abnormal right ventricle morphology", "HP:0001708": "Right ventricular failure", "HP:0001709": "Third degree atrioventricular block", "HP:0001710": "Conotruncal defect", "HP:0001711": "Abnormal left ventricle morphology", "HP:0001712": "Left ventricular hypertrophy", "HP:0001713": "Abnormal cardiac ventricle morphology", "HP:0001714": "Ventricular hypertrophy", "HP:0001716": "Wolff-Parkinson-White syndrome", "HP:0001717": "Coronary artery calcification", "HP:0001718": "Mitral stenosis", "HP:0001719": "Double outlet right ventricle", "HP:0001722": "High-output congestive heart failure", "HP:0001723": "Restrictive cardiomyopathy", "HP:0001727": "Thromboembolic stroke", "HP:0001730": "Progressive hearing impairment", "HP:0001732": "Abnormality of the pancreas", "HP:0001733": "Pancreatitis", "HP:0001734": "Annular pancreas", "HP:0001735": "Acute pancreatitis", "HP:0001737": "Pancreatic cysts", "HP:0001738": "Exocrine pancreatic insufficiency", "HP:0001739": "Abnormal nasopharynx morphology", "HP:0001741": "Phimosis", "HP:0001742": "Nasal congestion", "HP:0001743": "Abnormality of the spleen", "HP:0001744": "Splenomegaly", "HP:0001746": "Asplenia", "HP:0001747": "Accessory spleen", "HP:0001748": "Polysplenia", "HP:0001750": "Single ventricle", "HP:0001751": "Abnormal vestibular function", "HP:0001756": "Vestibular hypofunction", "HP:0001757": "High-frequency sensorineural hearing impairment", "HP:0001760": "Abnormal foot morphology", "HP:0001761": "Pes cavus", "HP:0001762": "Talipes equinovarus", "HP:0001763": "Pes planus", "HP:0001765": "Hammertoe", "HP:0001769": "Broad foot", "HP:0001770": "Toe syndactyly", "HP:0001771": "Achilles tendon contracture", "HP:0001772": "Talipes equinovalgus", "HP:0001773": "Short foot", "HP:0001775": "Tarsal osteovalgus", "HP:0001776": "Bilateral talipes equinovarus", "HP:0001780": "Abnormal toe morphology", "HP:0001782": "Bulbous tips of toes", "HP:0001783": "Broad metatarsal", "HP:0001785": "Ankle swelling", "HP:0001786": "Narrow foot", "HP:0001787": "Abnormal delivery", "HP:0001788": "Premature rupture of membranes", "HP:0001789": "Hydrops fetalis", "HP:0001790": "Nonimmune hydrops fetalis", "HP:0001791": "Fetal ascites", "HP:0001792": "Small nail", "HP:0001795": "Hyperconvex nail", "HP:0001798": "Anonychia", "HP:0001799": "Short nail", "HP:0001800": "Hypoplastic toenails", "HP:0001802": "Absent toenail", "HP:0001803": "Nail pits", "HP:0001804": "Hypoplastic fingernail", "HP:0001805": "Onychogryposis", "HP:0001806": "Onycholysis", "HP:0001807": "Ridged nail", "HP:0001808": "Fragile nails", "HP:0001809": "Split nail", "HP:0001810": "Dystrophic toenail", "HP:0001812": "Hyperconvex fingernails", "HP:0001814": "Deep-set nails", "HP:0001816": "Thin nail", "HP:0001817": "Absent fingernail", "HP:0001818": "Paronychia", "HP:0001820": "Leukonychia", "HP:0001821": "Broad nail", "HP:0001822": "Hallux valgus", "HP:0001824": "Weight loss", "HP:0001827": "Genital tract atresia", "HP:0001829": "Foot polydactyly", "HP:0001830": "Postaxial foot polydactyly", "HP:0001831": "Short toe", "HP:0001832": "Abnormal metatarsal morphology", "HP:0001833": "Long foot", "HP:0001836": "Camptodactyly of toe", "HP:0001837": "Broad toe", "HP:0001838": "Rocker bottom foot", "HP:0001839": "Split foot", "HP:0001840": "Metatarsus adductus", "HP:0001841": "Preaxial foot polydactyly", "HP:0001842": "Foot acroosteolysis", "HP:0001844": "Abnormal hallux morphology", "HP:0001845": "Overlapping toe", "HP:0001847": "Long hallux", "HP:0001848": "Calcaneovalgus deformity", "HP:0001849": "Foot oligodactyly", "HP:0001850": "Abnormality of the tarsal bones", "HP:0001852": "Sandal gap", "HP:0001853": "Bifid distal phalanx of toe", "HP:0001854": "Podagra", "HP:0001857": "Short distal phalanx of toe", "HP:0001859": "Distal foot symphalangism", "HP:0001863": "Toe clinodactyly", "HP:0001864": "Clinodactyly of the 5th toe", "HP:0001868": "Autoamputation of foot", "HP:0001869": "Deep plantar creases", "HP:0001870": "Acroosteolysis of distal phalanges (feet)", "HP:0001871": "Abnormality of blood and blood-forming tissues", "HP:0001872": "Abnormality of thrombocytes", "HP:0001873": "Thrombocytopenia", "HP:0001874": "Abnormality of neutrophils", "HP:0001875": "Neutropenia", "HP:0001876": "Pancytopenia", "HP:0001877": "Abnormal erythrocyte morphology", "HP:0001878": "Hemolytic anemia", "HP:0001879": "Abnormal eosinophil morphology", "HP:0001880": "Eosinophilia", "HP:0001881": "Abnormal leukocyte morphology", "HP:0001882": "Leukopenia", "HP:0001883": "Talipes", "HP:0001884": "Talipes calcaneovalgus", "HP:0001885": "Short 2nd toe", "HP:0001886": "Foot osteomyelitis", "HP:0001888": "Lymphopenia", "HP:0001889": "Megaloblastic anemia", "HP:0001890": "Autoimmune hemolytic anemia", "HP:0001891": "Iron deficiency anemia", "HP:0001892": "Abnormal bleeding", "HP:0001894": "Thrombocytosis", "HP:0001895": "Normochromic anemia", "HP:0001896": "Reticulocytopenia", "HP:0001897": "Normocytic anemia", "HP:0001898": "Increased red blood cell mass", "HP:0001899": "Increased hematocrit", "HP:0001900": "Increased hemoglobin", "HP:0001901": "Polycythemia", "HP:0001902": "Giant platelets", "HP:0001903": "Anemia", "HP:0001904": "Neutropenia in presence of anti-neutropil antibodies", "HP:0001905": "Congenital thrombocytopenia", "HP:0001907": "Thromboembolism", "HP:0001908": "Hypoplastic anemia", "HP:0001909": "Leukemia", "HP:0001911": "Abnormal granulocyte morphology", "HP:0001912": "Abnormal basophil morphology", "HP:0001913": "Granulocytopenia", "HP:0001915": "Aplastic anemia", "HP:0001917": "Renal amyloidosis", "HP:0001919": "Acute kidney injury", "HP:0001920": "Renal artery stenosis", "HP:0001922": "Vacuolated lymphocytes", "HP:0001923": "Reticulocytosis", "HP:0001924": "Sideroblastic anemia", "HP:0001927": "Acanthocytosis", "HP:0001928": "Abnormality of coagulation", "HP:0001929": "Reduced factor XI activity", "HP:0001930": "Nonspherocytic hemolytic anemia", "HP:0001931": "Hypochromic anemia", "HP:0001933": "Subcutaneous hemorrhage", "HP:0001934": "Persistent bleeding after trauma", "HP:0001935": "Microcytic anemia", "HP:0001937": "Microangiopathic hemolytic anemia", "HP:0001939": "Abnormality of metabolism/homeostasis", "HP:0001941": "Acidosis", "HP:0001942": "Metabolic acidosis", "HP:0001943": "Hypoglycemia", "HP:0001944": "Dehydration", "HP:0001945": "Fever", "HP:0001946": "Ketosis", "HP:0001947": "Renal tubular acidosis", "HP:0001948": "Alkalosis", "HP:0001949": "Hypokalemic alkalosis", "HP:0001950": "Respiratory alkalosis", "HP:0001951": "Episodic ammonia intoxication", "HP:0001952": "Glucose intolerance", "HP:0001953": "Diabetic ketoacidosis", "HP:0001954": "Recurrent fever", "HP:0001955": "Unexplained fevers", "HP:0001956": "Truncal obesity", "HP:0001958": "Nonketotic hypoglycemia", "HP:0001959": "Polydipsia", "HP:0001960": "Hypokalemic metabolic alkalosis", "HP:0001961": "Hypoplastic heart", "HP:0001962": "Palpitations", "HP:0001963": "Abnormal speech discrimination", "HP:0001964": "Aplasia/Hypoplasia of metatarsal bones", "HP:0001965": "Abnormal scalp morphology", "HP:0001966": "Abnormal glomerular mesangium morphology", "HP:0001967": "Diffuse mesangial sclerosis", "HP:0001969": "Abnormal tubulointerstitial morphology", "HP:0001970": "Tubulointerstitial nephritis", "HP:0001971": "Hypersplenism", "HP:0001972": "Macrocytic anemia", "HP:0001973": "Autoimmune thrombocytopenia", "HP:0001974": "Leukocytosis", "HP:0001975": "Decreased platelet glycoprotein IIb-IIIa", "HP:0001976": "Reduced antithrombin III activity", "HP:0001977": "Abnormal thrombosis", "HP:0001978": "Extramedullary hematopoiesis", "HP:0001980": "Megaloblastic bone marrow", "HP:0001981": "Schistocytosis", "HP:0001982": "Sea-blue histiocytosis", "HP:0001983": "Reduced lymphocyte surface expression of CD43", "HP:0001984": "Intolerance to protein", "HP:0001985": "Hypoketotic hypoglycemia", "HP:0001986": "Hypertonic dehydration", "HP:0001987": "Hyperammonemia", "HP:0001988": "Recurrent hypoglycemia", "HP:0001989": "Fetal akinesia sequence", "HP:0001991": "Aplasia/Hypoplasia of toe", "HP:0001992": "Organic aciduria", "HP:0001993": "Ketoacidosis", "HP:0001994": "Renal Fanconi syndrome", "HP:0001995": "Hyperchloremic acidosis", "HP:0001996": "Chronic metabolic acidosis", "HP:0001997": "Gout", "HP:0001998": "Neonatal hypoglycemia", "HP:0001999": "Abnormal facial shape", "HP:0002000": "Short columella", "HP:0002002": "Deep philtrum", "HP:0002003": "Large forehead", "HP:0002006": "Facial cleft", "HP:0002007": "Frontal bossing", "HP:0002009": "Potter facies", "HP:0002010": "Narrow maxilla", "HP:0002011": "Morphological central nervous system abnormality", "HP:0002012": "Abnormality of the abdominal organs", "HP:0002013": "Vomiting", "HP:0002014": "Diarrhea", "HP:0002015": "Dysphagia", "HP:0002017": "Nausea and vomiting", "HP:0002018": "Nausea", "HP:0002019": "Constipation", "HP:0002020": "Gastroesophageal reflux", "HP:0002021": "Pyloric stenosis", "HP:0002023": "Anal atresia", "HP:0002024": "Malabsorption", "HP:0002025": "Anal stenosis", "HP:0002027": "Abdominal pain", "HP:0002028": "Chronic diarrhea", "HP:0002031": "Abnormal esophagus morphology", "HP:0002032": "Esophageal atresia", "HP:0002033": "Poor suck", "HP:0002034": "Abnormal rectum morphology", "HP:0002035": "Rectal prolapse", "HP:0002036": "Hiatus hernia", "HP:0002037": "Inflammation of the large intestine", "HP:0002038": "Protein avoidance", "HP:0002039": "Anorexia", "HP:0002040": "Esophageal varix", "HP:0002041": "Intractable diarrhea", "HP:0002043": "Esophageal stricture", "HP:0002044": "Zollinger-Ellison syndrome", "HP:0002045": "Hypothermia", "HP:0002046": "Heat intolerance", "HP:0002047": "Malignant hyperthermia", "HP:0002048": "Renal cortical atrophy", "HP:0002049": "Proximal renal tubular acidosis", "HP:0002050": "Macroorchidism, postpubertal", "HP:0002054": "Heavy supraorbital ridges", "HP:0002055": "Curved linear dimple below the lower lip", "HP:0002056": "Abnormality of the glabella", "HP:0002057": "Prominent glabella", "HP:0002058": "Myopathic facies", "HP:0002059": "Cerebral atrophy", "HP:0002060": "Abnormal cerebral morphology", "HP:0002061": "Lower limb spasticity", "HP:0002062": "Morphological abnormality of the pyramidal tract", "HP:0002063": "Rigidity", "HP:0002064": "Spastic gait", "HP:0002066": "Gait ataxia", "HP:0002067": "Bradykinesia", "HP:0002068": "Neuromuscular dysphagia", "HP:0002069": "Bilateral tonic-clonic seizure", "HP:0002070": "Limb ataxia", "HP:0002071": "Abnormality of extrapyramidal motor function", "HP:0002072": "Chorea", "HP:0002073": "Progressive cerebellar ataxia", "HP:0002074": "Increased neuronal autofluorescent lipopigment", "HP:0002075": "Dysdiadochokinesis", "HP:0002076": "Migraine", "HP:0002077": "Migraine with aura", "HP:0002078": "Truncal ataxia", "HP:0002079": "Hypoplasia of the corpus callosum", "HP:0002080": "Intention tremor", "HP:0002083": "Migraine without aura", "HP:0002084": "Encephalocele", "HP:0002085": "Occipital encephalocele", "HP:0002086": "Abnormality of the respiratory system", "HP:0002087": "Abnormality of the upper respiratory tract", "HP:0002088": "Abnormal lung morphology", "HP:0002089": "Pulmonary hypoplasia", "HP:0002090": "Pneumonia", "HP:0002091": "Restrictive ventilatory defect", "HP:0002092": "Pulmonary arterial hypertension", "HP:0002093": "Respiratory insufficiency", "HP:0002094": "Dyspnea", "HP:0002097": "Emphysema", "HP:0002098": "Respiratory distress", "HP:0002099": "Asthma", "HP:0002100": "Recurrent aspiration pneumonia", "HP:0002101": "Abnormal lung lobation", "HP:0002102": "Pleuritis", "HP:0002103": "Abnormal pleura morphology", "HP:0002104": "Apnea", "HP:0002105": "Hemoptysis", "HP:0002107": "Pneumothorax", "HP:0002108": "Spontaneous pneumothorax", "HP:0002110": "Bronchiectasis", "HP:0002113": "Pulmonary infiltrates", "HP:0002118": "Abnormal cerebral ventricle morphology", "HP:0002119": "Ventriculomegaly", "HP:0002120": "Cerebral cortical atrophy", "HP:0002121": "Generalized non-motor (absence) seizure", "HP:0002123": "Generalized myoclonic seizure", "HP:0002126": "Polymicrogyria", "HP:0002127": "Abnormal upper motor neuron morphology", "HP:0002131": "Episodic ataxia", "HP:0002132": "Porencephalic cyst", "HP:0002133": "Status epilepticus", "HP:0002134": "Abnormal basal ganglia morphology", "HP:0002135": "Basal ganglia calcification", "HP:0002136": "Broad-based gait", "HP:0002138": "Subarachnoid hemorrhage", "HP:0002139": "Arrhinencephaly", "HP:0002140": "Ischemic stroke", "HP:0002141": "Gait imbalance", "HP:0002143": "Abnormal spinal cord morphology", "HP:0002144": "Tethered cord", "HP:0002145": "Frontotemporal dementia", "HP:0002148": "Hypophosphatemia", "HP:0002149": "Hyperuricemia", "HP:0002150": "Hypercalciuria", "HP:0002151": "Increased serum lactate", "HP:0002152": "Hyperproteinemia", "HP:0002153": "Hyperkalemia", "HP:0002154": "Hyperglycinemia", "HP:0002155": "Hypertriglyceridemia", "HP:0002156": "Homocystinuria", "HP:0002157": "Azotemia", "HP:0002159": "Heparan sulfate excretion in urine", "HP:0002160": "Hyperhomocystinemia", "HP:0002161": "Hyperlysinemia", "HP:0002162": "Low posterior hairline", "HP:0002164": "Nail dysplasia", "HP:0002165": "Pterygium of nails", "HP:0002166": "Impaired vibration sensation in the lower limbs", "HP:0002167": "Abnormality of speech or vocalization", "HP:0002168": "Scanning speech", "HP:0002169": "Clonus", "HP:0002170": "Intracranial hemorrhage", "HP:0002171": "Gliosis", "HP:0002172": "Postural instability", "HP:0002173": "Hypoglycemic seizures", "HP:0002174": "Postural tremor", "HP:0002176": "Spinal cord compression", "HP:0002179": "Opisthotonus", "HP:0002180": "Neurodegeneration", "HP:0002181": "Cerebral edema", "HP:0002183": "Phonophobia", "HP:0002185": "Neurofibrillary tangles", "HP:0002186": "Apraxia", "HP:0002187": "Intellectual disability, profound", "HP:0002188": "Delayed CNS myelination", "HP:0002190": "Choroid plexus cyst", "HP:0002191": "Progressive spasticity", "HP:0002193": "Pseudobulbar behavioral symptoms", "HP:0002194": "Delayed gross motor development", "HP:0002195": "Dysgenesis of the cerebellar vermis", "HP:0002196": "Myelopathy", "HP:0002197": "Generalized-onset seizure", "HP:0002198": "Dilated fourth ventricle", "HP:0002199": "Hypocalcemic seizures", "HP:0002200": "Pseudobulbar signs", "HP:0002202": "Pleural effusion", "HP:0002203": "Respiratory paralysis", "HP:0002204": "Pulmonary embolism", "HP:0002205": "Recurrent respiratory infections", "HP:0002206": "Pulmonary fibrosis", "HP:0002207": "Diffuse reticular or finely nodular infiltrations", "HP:0002208": "Coarse hair", "HP:0002209": "Sparse scalp hair", "HP:0002211": "White forelock", "HP:0002212": "Curly hair", "HP:0002213": "Fine hair", "HP:0002215": "Sparse axillary hair", "HP:0002216": "Premature graying of hair", "HP:0002217": "Slow-growing hair", "HP:0002218": "Silver-gray hair", "HP:0002219": "Facial hypertrichosis", "HP:0002220": "Melanin pigment aggregation in hair shafts", "HP:0002221": "Absent axillary hair", "HP:0002223": "Absent eyebrow", "HP:0002224": "Woolly hair", "HP:0002225": "Sparse pubic hair", "HP:0002226": "White eyebrow", "HP:0002227": "White eyelashes", "HP:0002230": "Generalized hirsutism", "HP:0002231": "Sparse body hair", "HP:0002232": "Patchy alopecia", "HP:0002234": "Early balding", "HP:0002235": "Pili canaliculi", "HP:0002236": "Frontal upsweep of hair", "HP:0002239": "Gastrointestinal hemorrhage", "HP:0002240": "Hepatomegaly", "HP:0002242": "Abnormal intestine morphology", "HP:0002243": "Protein-losing enteropathy", "HP:0002244": "Abnormal small intestine morphology", "HP:0002245": "Meckel diverticulum", "HP:0002246": "Abnormal duodenum morphology", "HP:0002247": "Duodenal atresia", "HP:0002248": "Hematemesis", "HP:0002249": "Melena", "HP:0002250": "Abnormal large intestine morphology", "HP:0002251": "Aganglionic megacolon", "HP:0002253": "Colonic diverticula", "HP:0002254": "Intermittent diarrhea", "HP:0002256": "Small bowel diverticula", "HP:0002257": "Chronic rhinitis", "HP:0002263": "Exaggerated cupid's bow", "HP:0002265": "Large fleshy ears", "HP:0002266": "Focal clonic seizure", "HP:0002267": "Exaggerated startle response", "HP:0002268": "Paroxysmal dystonia", "HP:0002269": "Abnormality of neuronal migration", "HP:0002270": "Abnormality of the autonomic nervous system", "HP:0002273": "Tetraparesis", "HP:0002275": "Poor motor coordination", "HP:0002277": "Horner syndrome", "HP:0002280": "Enlarged cisterna magna", "HP:0002282": "Gray matter heterotopia", "HP:0002283": "Global brain atrophy", "HP:0002286": "Fair hair", "HP:0002287": "Progressive alopecia", "HP:0002289": "Alopecia universalis", "HP:0002290": "Poliosis", "HP:0002292": "Frontal balding", "HP:0002293": "Alopecia of scalp", "HP:0002296": "Progressive hypotrichosis", "HP:0002297": "Red hair", "HP:0002298": "Absent hair", "HP:0002299": "Brittle hair", "HP:0002300": "Mutism", "HP:0002301": "Hemiplegia", "HP:0002304": "Akinesia", "HP:0002305": "Athetosis", "HP:0002307": "Drooling", "HP:0002308": "Chiari malformation", "HP:0002310": "Orofacial dyskinesia", "HP:0002311": "Incoordination", "HP:0002312": "Clumsiness", "HP:0002313": "Spastic paraparesis", "HP:0002314": "Degeneration of the lateral corticospinal tracts", "HP:0002315": "Headache", "HP:0002317": "Unsteady gait", "HP:0002318": "Cervical myelopathy", "HP:0002321": "Vertigo", "HP:0002322": "Resting tremor", "HP:0002323": "Anencephaly", "HP:0002324": "Hydranencephaly", "HP:0002326": "Transient ischemic attack", "HP:0002329": "Drowsiness", "HP:0002330": "Paroxysmal drowsiness", "HP:0002331": "Recurrent paroxysmal headache", "HP:0002332": "Lack of peer relationships", "HP:0002333": "Motor deterioration", "HP:0002334": "Abnormal cerebellar vermis morphology", "HP:0002335": "Agenesis of cerebellar vermis", "HP:0002339": "Abnormal caudate nucleus morphology", "HP:0002340": "Caudate atrophy", "HP:0002341": "Cervical cord compression", "HP:0002342": "Intellectual disability, moderate", "HP:0002343": "Normal pressure hydrocephalus", "HP:0002344": "Progressive neurologic deterioration", "HP:0002345": "Action tremor", "HP:0002346": "Head tremor", "HP:0002349": "Focal aware seizure", "HP:0002350": "Cerebellar cyst", "HP:0002352": "Leukoencephalopathy", "HP:0002353": "EEG abnormality", "HP:0002354": "Memory impairment", "HP:0002355": "Difficulty walking", "HP:0002356": "Writer's cramp", "HP:0002359": "Frequent falls", "HP:0002360": "Sleep disturbance", "HP:0002361": "Psychomotor deterioration", "HP:0002362": "Shuffling gait", "HP:0002363": "Abnormal brainstem morphology", "HP:0002365": "Hypoplasia of the brainstem", "HP:0002366": "Abnormal lower motor neuron morphology", "HP:0002367": "Visual hallucinations", "HP:0002370": "Poor coordination", "HP:0002371": "Loss of speech", "HP:0002372": "Normal interictal EEG", "HP:0002373": "Febrile seizure (within the age range of 3 months to 6 years)", "HP:0002374": "Diminished movement", "HP:0002375": "Hypokinesia", "HP:0002376": "Developmental regression", "HP:0002378": "Hand tremor", "HP:0002380": "Fasciculations", "HP:0002381": "Aphasia", "HP:0002383": "Infectious encephalitis", "HP:0002384": "Focal impaired awareness seizure", "HP:0002385": "Paraparesis", "HP:0002389": "Cavum septum pellucidum", "HP:0002390": "Spinal arteriovenous malformation", "HP:0002392": "EEG with polyspike wave complexes", "HP:0002395": "Lower limb hyperreflexia", "HP:0002396": "Cogwheel rigidity", "HP:0002398": "Degeneration of anterior horn cells", "HP:0002401": "Stroke-like episode", "HP:0002403": "Positive Romberg sign", "HP:0002404": "Thickened superior cerebellar peduncle", "HP:0002406": "Limb dysmetria", "HP:0002408": "Cerebral arteriovenous malformation", "HP:0002410": "Aqueductal stenosis", "HP:0002411": "Myokymia", "HP:0002414": "Spina bifida", "HP:0002415": "Leukodystrophy", "HP:0002416": "Subependymal cysts", "HP:0002418": "Abnormal midbrain morphology", "HP:0002419": "Molar tooth sign on MRI", "HP:0002421": "Poor head control", "HP:0002423": "Long-tract signs", "HP:0002425": "Anarthria", "HP:0002427": "Expressive aphasia", "HP:0002435": "Meningocele", "HP:0002436": "Occipital meningocele", "HP:0002438": "Cerebellar malformation", "HP:0002439": "Frontolimbic dementia", "HP:0002442": "Dyscalculia", "HP:0002444": "Hypothalamic hamartoma", "HP:0002445": "Tetraplegia", "HP:0002446": "Astrocytosis", "HP:0002448": "Progressive encephalopathy", "HP:0002450": "Abnormal motor neuron morphology", "HP:0002451": "Limb dystonia", "HP:0002453": "Abnormal globus pallidus morphology", "HP:0002454": "Eye of the tiger anomaly of globus pallidus", "HP:0002457": "Abnormal head movements", "HP:0002460": "Distal muscle weakness", "HP:0002461": "Dense calcifications in the cerebellar dentate nucleus", "HP:0002463": "Language impairment", "HP:0002464": "Spastic dysarthria", "HP:0002465": "Poor speech", "HP:0002470": "Nonprogressive cerebellar ataxia", "HP:0002472": "Small cerebral cortex", "HP:0002474": "Expressive language delay", "HP:0002475": "Myelomeningocele", "HP:0002476": "Primitive reflex", "HP:0002478": "Progressive spastic quadriplegia", "HP:0002480": "Hepatic encephalopathy", "HP:0002483": "Bulbar signs", "HP:0002486": "Myotonia", "HP:0002487": "Hyperkinetic movements", "HP:0002488": "Acute leukemia", "HP:0002490": "Increased CSF lactate", "HP:0002491": "Spasticity of facial muscles", "HP:0002492": "Morphological abnormality of the corticospinal tract", "HP:0002493": "Upper motor neuron dysfunction", "HP:0002494": "Abnormal rapid eye movement sleep", "HP:0002495": "Impaired vibratory sensation", "HP:0002497": "Spastic ataxia", "HP:0002500": "Abnormal cerebral white matter morphology", "HP:0002501": "Spasticity of pharyngeal muscles", "HP:0002503": "Spinocerebellar tract degeneration", "HP:0002504": "Calcification of the small brain vessels", "HP:0002505": "Loss of ambulation", "HP:0002506": "Diffuse cerebral atrophy", "HP:0002507": "Semilobar holoprosencephaly", "HP:0002508": "Brainstem dysplasia", "HP:0002509": "Limb hypertonia", "HP:0002510": "Spastic tetraplegia", "HP:0002511": "Alzheimer disease", "HP:0002512": "Brain stem compression", "HP:0002514": "Cerebral calcification", "HP:0002515": "Waddling gait", "HP:0002516": "Increased intracranial pressure", "HP:0002518": "Abnormal periventricular white matter morphology", "HP:0002519": "Hypnagogic hallucinations", "HP:0002521": "Hypsarrhythmia", "HP:0002522": "Areflexia of lower limbs", "HP:0002524": "Cataplexy", "HP:0002526": "Deficit in nonword repetition", "HP:0002527": "Falls", "HP:0002528": "Granulovacuolar degeneration", "HP:0002529": "Neuronal loss in central nervous system", "HP:0002530": "Axial dystonia", "HP:0002533": "Abnormal posturing", "HP:0002536": "Abnormal cortical gyration", "HP:0002538": "Abnormal cerebral cortex morphology", "HP:0002539": "Cortical dysplasia", "HP:0002540": "Inability to walk", "HP:0002542": "Olivopontocerebellar atrophy", "HP:0002544": "Retrocollis", "HP:0002545": "Patchy demyelination of subcortical white matter", "HP:0002546": "Incomprehensible speech", "HP:0002548": "Parkinsonism with favorable response to dopaminergic medication", "HP:0002549": "Deficit in phonologic short-term memory", "HP:0002550": "Absent facial hair", "HP:0002552": "Trichodysplasia", "HP:0002553": "Highly arched eyebrow", "HP:0002555": "Absent pubic hair", "HP:0002557": "Hypoplastic nipples", "HP:0002558": "Supernumerary nipple", "HP:0002561": "Absent nipple", "HP:0002562": "Low-set nipples", "HP:0002563": "Constrictive pericarditis", "HP:0002566": "Intestinal malrotation", "HP:0002570": "Steatorrhea", "HP:0002571": "Achalasia", "HP:0002572": "Episodic vomiting", "HP:0002573": "Hematochezia", "HP:0002574": "Episodic abdominal pain", "HP:0002575": "Tracheoesophageal fistula", "HP:0002576": "Intussusception", "HP:0002577": "Abnormal stomach morphology", "HP:0002578": "Gastroparesis", "HP:0002579": "Gastrointestinal dysmotility", "HP:0002580": "Volvulus", "HP:0002582": "Atrophic gastritis", "HP:0002583": "Colitis", "HP:0002584": "Intestinal bleeding", "HP:0002585": "Abnormality of the peritoneum", "HP:0002586": "Peritonitis", "HP:0002587": "Projectile vomiting", "HP:0002588": "Duodenal ulcer", "HP:0002589": "Gastrointestinal atresia", "HP:0002590": "Paralytic ileus", "HP:0002591": "Polyphagia", "HP:0002592": "Gastric ulcer", "HP:0002593": "Intestinal lymphangiectasia", "HP:0002594": "Pancreatic hypoplasia", "HP:0002595": "Ileus", "HP:0002597": "Abnormality of the vasculature", "HP:0002599": "Head titubation", "HP:0002600": "Hyporeflexia of lower limbs", "HP:0002601": "Paresis of extensor muscles of the big toe", "HP:0002604": "Gastrointestinal telangiectasia", "HP:0002605": "Hepatic necrosis", "HP:0002607": "Bowel incontinence", "HP:0002608": "Celiac disease", "HP:0002611": "Cholestatic liver disease", "HP:0002612": "Congenital hepatic fibrosis", "HP:0002613": "Biliary cirrhosis", "HP:0002614": "Hepatic periportal necrosis", "HP:0002615": "Hypotension", "HP:0002616": "Aortic root aneurysm", "HP:0002617": "Vascular dilatation", "HP:0002619": "Varicose veins", "HP:0002621": "Atherosclerosis", "HP:0002623": "Overriding aorta", "HP:0002624": "Abnormal venous morphology", "HP:0002625": "Deep venous thrombosis", "HP:0002626": "Venous varicosities of celiac and mesenteric vessels", "HP:0002627": "Right aortic arch with mirror image branching", "HP:0002629": "Gastrointestinal arteriovenous malformation", "HP:0002630": "Fat malabsorption", "HP:0002632": "Low-to-normal blood pressure", "HP:0002633": "Vasculitis", "HP:0002634": "Arteriosclerosis", "HP:0002635": "Type IV atherosclerotic lesion", "HP:0002636": "Dilatation of an abdominal artery", "HP:0002637": "Cerebral ischemia", "HP:0002638": "Superficial thrombophlebitis", "HP:0002639": "Budd-Chiari syndrome", "HP:0002640": "Hypertension associated with pheochromocytoma", "HP:0002641": "Peripheral thrombosis", "HP:0002642": "Arteriovenous fistulas of celiac and mesenteric vessels", "HP:0002643": "Neonatal respiratory distress", "HP:0002644": "Abnormal pelvic girdle bone morphology", "HP:0002645": "Wormian bones", "HP:0002647": "Aortic dissection", "HP:0002650": "Scoliosis", "HP:0002651": "Spondyloepimetaphyseal dysplasia", "HP:0002652": "Skeletal dysplasia", "HP:0002653": "Bone pain", "HP:0002654": "Multiple epiphyseal dysplasia", "HP:0002655": "Spondyloepiphyseal dysplasia", "HP:0002656": "Epiphyseal dysplasia", "HP:0002657": "Spondylometaphyseal dysplasia", "HP:0002659": "Increased susceptibility to fractures", "HP:0002661": "Painless fractures due to injury", "HP:0002663": "Delayed epiphyseal ossification", "HP:0002664": "Neoplasm", "HP:0002665": "Lymphoma", "HP:0002666": "Pheochromocytoma", "HP:0002667": "Nephroblastoma", "HP:0002668": "Paraganglioma", "HP:0002669": "Osteosarcoma", "HP:0002671": "Basal cell carcinoma", "HP:0002672": "Gastrointestinal carcinoma", "HP:0002673": "Coxa valga", "HP:0002676": "Cloverleaf skull", "HP:0002677": "Small foramen magnum", "HP:0002678": "Skull asymmetry", "HP:0002679": "Abnormal sella turcica morphology", "HP:0002680": "J-shaped sella turcica", "HP:0002681": "Deformed sella turcica", "HP:0002682": "Broad skull", "HP:0002683": "Abnormal calvaria morphology", "HP:0002684": "Thickened calvaria", "HP:0002686": "Pregnancy history", "HP:0002687": "Abnormality of frontal sinus", "HP:0002688": "Absent frontal sinuses", "HP:0002689": "Absent paranasal sinuses", "HP:0002690": "Large sella turcica", "HP:0002691": "Platybasia", "HP:0002692": "Hypoplastic facial bones", "HP:0002693": "Abnormal skull base morphology", "HP:0002694": "Sclerosis of skull base", "HP:0002696": "Abnormal parietal bone morphology", "HP:0002697": "Parietal foramina", "HP:0002699": "Abnormal foramen magnum morphology", "HP:0002700": "Large foramen magnum", "HP:0002703": "Abnormality of skull ossification", "HP:0002705": "High, narrow palate", "HP:0002707": "Palate telangiectasia", "HP:0002708": "Prominent median palatal raphe", "HP:0002710": "Commissural lip pit", "HP:0002711": "Exaggerated median tongue furrow", "HP:0002714": "Downturned corners of mouth", "HP:0002715": "Abnormality of the immune system", "HP:0002716": "Lymphadenopathy", "HP:0002717": "Adrenal overactivity", "HP:0002718": "Recurrent bacterial infections", "HP:0002719": "Recurrent infections", "HP:0002720": "Decreased circulating IgA level", "HP:0002721": "Immunodeficiency", "HP:0002722": "Recurrent abscess formation", "HP:0002723": "Absence of bactericidal oxidative respiratory burst in phagocytes", "HP:0002724": "Recurrent Aspergillus infections", "HP:0002725": "Systemic lupus erythematosus", "HP:0002726": "Recurrent Staphylococcus aureus infections", "HP:0002728": "Chronic mucocutaneous candidiasis", "HP:0002729": "Follicular hyperplasia", "HP:0002730": "Chronic noninfectious lymphadenopathy", "HP:0002731": "Decreased lymphocyte apoptosis", "HP:0002732": "Lymph node hypoplasia", "HP:0002733": "Abnormal lymph node morphology", "HP:0002737": "Thick skull base", "HP:0002738": "Hypoplastic frontal sinuses", "HP:0002740": "Recurrent E. coli infections", "HP:0002741": "Recurrent Serratia marcescens infections", "HP:0002742": "Recurrent Klebsiella infections", "HP:0002743": "Recurrent enteroviral infections", "HP:0002744": "Bilateral cleft lip and palate", "HP:0002745": "Oral leukoplakia", "HP:0002747": "Respiratory insufficiency due to muscle weakness", "HP:0002748": "Rickets", "HP:0002749": "Osteomalacia", "HP:0002750": "Delayed skeletal maturation", "HP:0002751": "Kyphoscoliosis", "HP:0002752": "Sparse bone trabeculae", "HP:0002753": "Thin bony cortex", "HP:0002754": "Osteomyelitis", "HP:0002756": "Pathologic fracture", "HP:0002757": "Recurrent fractures", "HP:0002758": "Osteoarthritis", "HP:0002761": "Generalized joint laxity", "HP:0002762": "Multiple exostoses", "HP:0002763": "Abnormal cartilage morphology", "HP:0002764": "Stippled chondral calcification", "HP:0002766": "Relatively short spine", "HP:0002777": "Tracheal stenosis", "HP:0002778": "Abnormal tracheal morphology", "HP:0002779": "Tracheomalacia", "HP:0002780": "Bronchomalacia", "HP:0002781": "Upper airway obstruction", "HP:0002783": "Recurrent lower respiratory tract infections", "HP:0002786": "Tracheobronchomalacia", "HP:0002787": "Tracheal calcification", "HP:0002788": "Recurrent upper respiratory tract infections", "HP:0002789": "Tachypnea", "HP:0002790": "Neonatal breathing dysregulation", "HP:0002791": "Hypoventilation", "HP:0002792": "Reduced vital capacity", "HP:0002793": "Abnormal pattern of respiration", "HP:0002795": "Abnormal respiratory system physiology", "HP:0002797": "Osteolysis", "HP:0002803": "Congenital contracture", "HP:0002804": "Arthrogryposis multiplex congenita", "HP:0002805": "Accelerated bone age after puberty", "HP:0002808": "Kyphosis", "HP:0002810": "Dumbbell-shaped metaphyses", "HP:0002812": "Coxa vara", "HP:0002813": "Abnormality of limb bone morphology", "HP:0002814": "Abnormality of the lower limb", "HP:0002815": "Abnormality of the knee", "HP:0002816": "Genu recurvatum", "HP:0002817": "Abnormality of the upper limb", "HP:0002818": "Abnormal morphology of the radius", "HP:0002821": "Neuropathic arthropathy", "HP:0002822": "Hyperplasia of the femoral trochanters", "HP:0002823": "Abnormality of femur morphology", "HP:0002825": "Caudal appendage", "HP:0002826": "Halberd-shaped pelvis", "HP:0002827": "Hip dislocation", "HP:0002828": "Multiple joint contractures", "HP:0002829": "Arthralgia", "HP:0002831": "Long coccyx", "HP:0002832": "Calcific stippling", "HP:0002833": "Cystic angiomatosis of bone", "HP:0002834": "Flared femoral metaphysis", "HP:0002835": "Aspiration", "HP:0002836": "Bladder exstrophy", "HP:0002837": "Recurrent bronchitis", "HP:0002839": "Urinary bladder sphincter dysfunction", "HP:0002840": "Lymphadenitis", "HP:0002841": "Recurrent fungal infections", "HP:0002842": "Recurrent Burkholderia cepacia infections", "HP:0002843": "Abnormal T cell morphology", "HP:0002846": "Abnormal B cell morphology", "HP:0002847": "Impaired memory B cell generation", "HP:0002848": "Decreased specific anti-polysaccharide antibody level", "HP:0002849": "Absence of lymph node germinal center", "HP:0002850": "Decreased circulating total IgM", "HP:0002851": "Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells", "HP:0002853": "Increased proportion of HLA DR+ T cells", "HP:0002857": "Genu valgum", "HP:0002858": "Meningioma", "HP:0002859": "Rhabdomyosarcoma", "HP:0002860": "Squamous cell carcinoma", "HP:0002861": "Melanoma", "HP:0002862": "Bladder carcinoma", "HP:0002863": "Myelodysplasia", "HP:0002864": "Paraganglioma of head and neck", "HP:0002865": "Medullary thyroid carcinoma", "HP:0002866": "Hypoplastic iliac wing", "HP:0002867": "Abnormal ilium morphology", "HP:0002868": "Narrow iliac wing", "HP:0002869": "Flared iliac wing", "HP:0002870": "Obstructive sleep apnea", "HP:0002871": "Central apnea", "HP:0002872": "Apneic episodes precipitated by illness, fatigue, stress", "HP:0002875": "Exertional dyspnea", "HP:0002876": "Episodic tachypnea", "HP:0002877": "Nocturnal hypoventilation", "HP:0002878": "Respiratory failure", "HP:0002879": "Anisospondyly", "HP:0002882": "Sudden episodic apnea", "HP:0002883": "Hyperventilation", "HP:0002884": "Hepatoblastoma", "HP:0002885": "Medulloblastoma", "HP:0002886": "Vagal paraganglioma", "HP:0002888": "Ependymoma", "HP:0002890": "Thyroid carcinoma", "HP:0002891": "Uterine leiomyosarcoma", "HP:0002893": "Pituitary adenoma", "HP:0002894": "Neoplasm of the pancreas", "HP:0002895": "Papillary thyroid carcinoma", "HP:0002896": "Neoplasm of the liver", "HP:0002897": "Parathyroid adenoma", "HP:0002898": "Embryonal neoplasm", "HP:0002900": "Hypokalemia", "HP:0002901": "Hypocalcemia", "HP:0002902": "Hyponatremia", "HP:0002904": "Hyperbilirubinemia", "HP:0002905": "Hyperphosphatemia", "HP:0002907": "Microscopic hematuria", "HP:0002908": "Conjugated hyperbilirubinemia", "HP:0002909": "Generalized aminoaciduria", "HP:0002910": "Elevated hepatic transaminase", "HP:0002912": "Methylmalonic acidemia", "HP:0002913": "Myoglobinuria", "HP:0002914": "Hyperchloriduria", "HP:0002916": "Abnormality of chromosome segregation", "HP:0002917": "Hypomagnesemia", "HP:0002918": "Hypermagnesemia", "HP:0002919": "Ketonuria", "HP:0002920": "Decreased circulating ACTH level", "HP:0002921": "Abnormal cerebrospinal fluid morphology", "HP:0002922": "Increased CSF protein concentration", "HP:0002923": "Rheumatoid factor positive", "HP:0002925": "Elevated circulating thyroid-stimulating hormone concentration", "HP:0002926": "Abnormality of thyroid physiology", "HP:0002927": "Histidinuria", "HP:0002928": "Decreased activity of the pyruvate dehydrogenase complex", "HP:0002929": "Leydig cell insensitivity to gonadotropin", "HP:0002930": "Impaired sensitivity to thyroid hormone", "HP:0002932": "Aldehyde oxidase deficiency", "HP:0002933": "Ventral hernia", "HP:0002936": "Distal sensory impairment", "HP:0002937": "Hemivertebrae", "HP:0002938": "Lumbar hyperlordosis", "HP:0002942": "Thoracic kyphosis", "HP:0002943": "Thoracic scoliosis", "HP:0002944": "Thoracolumbar scoliosis", "HP:0002945": "Intervertebral space narrowing", "HP:0002946": "Supernumerary vertebrae", "HP:0002947": "Cervical kyphosis", "HP:0002948": "Vertebral fusion", "HP:0002949": "Fused cervical vertebrae", "HP:0002951": "Partial absence of cerebellar vermis", "HP:0002953": "Vertebral compression fracture", "HP:0002955": "Granulomatosis", "HP:0002958": "Immune dysregulation", "HP:0002959": "Impaired Ig class switch recombination", "HP:0002960": "Autoimmunity", "HP:0002961": "Dysgammaglobulinemia", "HP:0002963": "Abnormal delayed hypersensitivity skin test", "HP:0002965": "Cutaneous anergy", "HP:0002967": "Cubitus valgus", "HP:0002970": "Genu varum", "HP:0002971": "Absent microvilli on the surface of peripheral blood lymphocytes", "HP:0002972": "Reduced delayed hypersensitivity", "HP:0002973": "Abnormal forearm morphology", "HP:0002974": "Radioulnar synostosis", "HP:0002977": "Aplasia/Hypoplasia involving the central nervous system", "HP:0002979": "Bowing of the legs", "HP:0002980": "Femoral bowing", "HP:0002981": "Abnormality of the calf", "HP:0002982": "Tibial bowing", "HP:0002983": "Micromelia", "HP:0002984": "Hypoplasia of the radius", "HP:0002986": "Radial bowing", "HP:0002987": "Elbow flexion contracture", "HP:0002990": "Fibular aplasia", "HP:0002991": "Abnormality of fibula morphology", "HP:0002992": "Abnormality of tibia morphology", "HP:0002996": "Limited elbow movement", "HP:0002999": "Patellar dislocation", "HP:0003001": "Glomus jugular tumor", "HP:0003002": "Breast carcinoma", "HP:0003003": "Colon cancer", "HP:0003005": "Ganglioneuroma", "HP:0003006": "Neuroblastoma", "HP:0003009": "Enhanced neurotoxicity of vincristine", "HP:0003010": "Prolonged bleeding time", "HP:0003011": "Abnormality of the musculature", "HP:0003013": "Bulging epiphyses", "HP:0003015": "Flared metaphysis", "HP:0003016": "Metaphyseal widening", "HP:0003019": "Abnormality of the wrist", "HP:0003020": "Enlargement of the wrists", "HP:0003021": "Metaphyseal cupping", "HP:0003022": "Hypoplasia of the ulna", "HP:0003023": "Bowing of limbs due to multiple fractures", "HP:0003025": "Metaphyseal irregularity", "HP:0003026": "Short long bone", "HP:0003027": "Mesomelia", "HP:0003028": "Abnormality of the ankle", "HP:0003029": "Enlargement of the ankles", "HP:0003031": "Ulnar bowing", "HP:0003034": "Diaphyseal sclerosis", "HP:0003037": "Enlarged joints", "HP:0003038": "Fibular hypoplasia", "HP:0003040": "Arthropathy", "HP:0003041": "Humeroradial synostosis", "HP:0003042": "Elbow dislocation", "HP:0003043": "Abnormal shoulder morphology", "HP:0003044": "Shoulder flexion contracture", "HP:0003045": "Abnormal patella morphology", "HP:0003048": "Radial head subluxation", "HP:0003049": "Ulnar deviation of the wrist", "HP:0003051": "Enlarged metaphyses", "HP:0003053": "Epiphyseal deformities of tubular bones", "HP:0003057": "Tetraamelia", "HP:0003059": "Abnormality of the radioulnar joints", "HP:0003063": "Abnormality of the humerus", "HP:0003065": "Patellar hypoplasia", "HP:0003066": "Limited knee extension", "HP:0003067": "Madelung deformity", "HP:0003068": "Madelung-like forearm deformities", "HP:0003070": "Elbow ankylosis", "HP:0003071": "Flattened epiphysis", "HP:0003072": "Hypercalcemia", "HP:0003073": "Hypoalbuminemia", "HP:0003074": "Hyperglycemia", "HP:0003075": "Hypoproteinemia", "HP:0003076": "Glycosuria", "HP:0003077": "Hyperlipidemia", "HP:0003079": "Defective DNA repair after ultraviolet radiation damage", "HP:0003080": "Hydroxyprolinuria", "HP:0003081": "Increased urinary potassium", "HP:0003083": "Dislocated radial head", "HP:0003084": "Fractures of the long bones", "HP:0003085": "Long fibula", "HP:0003086": "Acromesomelia", "HP:0003088": "Premature osteoarthritis", "HP:0003089": "Hamstring contractures", "HP:0003090": "Hypoplasia of the capital femoral epiphysis", "HP:0003091": "Trophic limb changes", "HP:0003093": "Limited hip extension", "HP:0003095": "Septic arthritis", "HP:0003097": "Short femur", "HP:0003099": "Fibular overgrowth", "HP:0003100": "Slender long bone", "HP:0003102": "Increased carrying angle", "HP:0003103": "Abnormal cortical bone morphology", "HP:0003105": "Protuberances at ends of long bones", "HP:0003106": "Subperiosteal bone resorption", "HP:0003107": "Abnormal circulating cholesterol concentration", "HP:0003108": "Hyperglycinuria", "HP:0003109": "Hyperphosphaturia", "HP:0003110": "Abnormality of urine homeostasis", "HP:0003111": "Abnormal blood ion concentration", "HP:0003112": "Abnormal circulating amino acid concentration", "HP:0003113": "Hypochloremia", "HP:0003115": "Abnormal EKG", "HP:0003117": "Abnormal circulating hormone concentration", "HP:0003118": "Increased circulating cortisol level", "HP:0003119": "Abnormal circulating lipid concentration", "HP:0003121": "Limb joint contracture", "HP:0003124": "Hypercholesterolemia", "HP:0003125": "Reduced factor VIII activity", "HP:0003126": "Low-molecular-weight proteinuria", "HP:0003127": "Hypocalciuria", "HP:0003128": "Lactic acidosis", "HP:0003130": "Abnormal peripheral myelination", "HP:0003131": "Cystinuria", "HP:0003133": "Abnormality of the spinocerebellar tracts", "HP:0003134": "Abnormality of peripheral nerve conduction", "HP:0003137": "Prolinuria", "HP:0003138": "Increased blood urea nitrogen", "HP:0003139": "Panhypogammaglobulinemia", "HP:0003140": "T-wave inversion in the right precordial leads", "HP:0003141": "Increased LDL cholesterol concentration", "HP:0003142": "Excessive purine production", "HP:0003144": "Increased serum serotonin", "HP:0003145": "Decreased adenosylcobalamin", "HP:0003146": "Hypocholesterolemia", "HP:0003148": "Elevated serum acid phosphatase", "HP:0003149": "Hyperuricosuria", "HP:0003150": "Glutaric aciduria", "HP:0003153": "Cystathioninuria", "HP:0003154": "Increased circulating ACTH level", "HP:0003155": "Elevated circulating alkaline phosphatase concentration", "HP:0003158": "Hyposthenuria", "HP:0003159": "Hyperoxaluria", "HP:0003160": "Abnormal isoelectric focusing of serum transferrin", "HP:0003161": "4-Hydroxyphenylpyruvic aciduria", "HP:0003162": "Fasting hypoglycemia", "HP:0003163": "Elevated urinary delta-aminolevulinic acid", "HP:0003164": "Hypothalamic gonadotropin-releasing hormone deficiency", "HP:0003165": "Elevated circulating parathyroid hormone level", "HP:0003166": "Increased urinary taurine", "HP:0003167": "Carnosinuria", "HP:0003168": "Dibasicaminoaciduria", "HP:0003170": "Abnormal acetabulum morphology", "HP:0003172": "Abnormal pubic bone morphology", "HP:0003173": "Hypoplastic pubic bone", "HP:0003174": "Abnormal ischium morphology", "HP:0003175": "Hypoplastic ischia", "HP:0003177": "Squared iliac bones", "HP:0003179": "Protrusio acetabuli", "HP:0003180": "Flat acetabular roof", "HP:0003182": "Shallow acetabular fossae", "HP:0003183": "Wide pubic symphysis", "HP:0003184": "Decreased hip abduction", "HP:0003185": "Short greater sciatic notch", "HP:0003186": "Inverted nipples", "HP:0003187": "Breast hypoplasia", "HP:0003189": "Long nose", "HP:0003191": "Cleft ala nasi", "HP:0003193": "Allergic rhinitis", "HP:0003194": "Short nasal bridge", "HP:0003196": "Short nose", "HP:0003198": "Myopathy", "HP:0003199": "Decreased muscle mass", "HP:0003200": "Ragged-red muscle fibers", "HP:0003201": "Rhabdomyolysis", "HP:0003202": "Skeletal muscle atrophy", "HP:0003203": "Impaired oxidative burst", "HP:0003204": "Intracellular accumulation of autofluorescent lipopigment storage material", "HP:0003205": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "HP:0003206": "Decreased activity of NADPH oxidase", "HP:0003207": "Arterial calcification", "HP:0003208": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "HP:0003209": "Decreased pyruvate carboxylase activity", "HP:0003210": "Decreased methylmalonyl-CoA mutase activity", "HP:0003212": "Increased circulating IgE level", "HP:0003213": "Deficient excision of UV-induced pyrimidine dimers in DNA", "HP:0003214": "Prolonged G2 phase of cell cycle", "HP:0003215": "Dicarboxylic aciduria", "HP:0003216": "Generalized amyloid deposition", "HP:0003217": "Hyperglutaminemia", "HP:0003218": "Oroticaciduria", "HP:0003219": "Ethylmalonic aciduria", "HP:0003220": "Abnormality of chromosome stability", "HP:0003221": "Chromosomal breakage induced by crosslinking agents", "HP:0003223": "Decreased methylcobalamin", "HP:0003224": "Increased cellular sensitivity to UV light", "HP:0003225": "Reduced coagulation factor V activity", "HP:0003226": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "HP:0003228": "Hypernatremia", "HP:0003231": "Hypertyrosinemia", "HP:0003232": "Mitochondrial malic enzyme reduced", "HP:0003233": "Decreased HDL cholesterol concentration", "HP:0003234": "Decreased plasma carnitine", "HP:0003235": "Hypermethioninemia", "HP:0003236": "Elevated circulating creatine kinase concentration", "HP:0003237": "Increased circulating IgG level", "HP:0003238": "Hyperpepsinogenemia I", "HP:0003239": "Phosphoethanolaminuria", "HP:0003240": "Increased phosphoribosylpyrophosphate synthetase level", "HP:0003241": "External genital hypoplasia", "HP:0003244": "Penile hypospadias", "HP:0003246": "Prominent scrotal raphe", "HP:0003247": "Overgrowth of external genitalia", "HP:0003248": "Gonadal tissue inappropriate for external genitalia or chromosomal sex", "HP:0003249": "Genital ulcers", "HP:0003250": "Aplasia of the vagina", "HP:0003251": "Male infertility", "HP:0003252": "Anteriorly displaced genitalia", "HP:0003254": "Abnormality of DNA repair", "HP:0003256": "Abnormality of the coagulation cascade", "HP:0003258": "Glyoxalase deficiency", "HP:0003259": "Elevated circulating creatinine concentration", "HP:0003260": "Hydroxyprolinemia", "HP:0003261": "Increased circulating IgA level", "HP:0003262": "Smooth muscle antibody positivity", "HP:0003264": "Deficiency of N-acetylglucosamine-1-phosphotransferase", "HP:0003265": "Neonatal hyperbilirubinemia", "HP:0003267": "Reduced orotidine 5-prime phosphate decarboxylase level", "HP:0003268": "Argininuria", "HP:0003269": "Sudanophilic leukodystrophy", "HP:0003270": "Abdominal distention", "HP:0003271": "Visceromegaly", "HP:0003272": "Abnormal hip bone morphology", "HP:0003273": "Hip contracture", "HP:0003274": "Hypoplastic acetabulae", "HP:0003275": "Narrow pelvis bone", "HP:0003276": "Pelvic bone exostoses", "HP:0003277": "Constricted iliac wing", "HP:0003278": "Square pelvis bone", "HP:0003279": "Coxa magna", "HP:0003281": "Increased circulating ferritin concentration", "HP:0003282": "Low alkaline phosphatase", "HP:0003286": "Cystathioninemia", "HP:0003287": "Abnormality of mitochondrial metabolism", "HP:0003288": "Mitochondrial propionyl-CoA carboxylase defect", "HP:0003292": "Decreased serum leptin", "HP:0003296": "Hyperthreoninuria", "HP:0003297": "Hyperlysinuria", "HP:0003298": "Spina bifida occulta", "HP:0003300": "Ovoid vertebral bodies", "HP:0003301": "Irregular vertebral endplates", "HP:0003302": "Spondylolisthesis", "HP:0003304": "Spondylolysis", "HP:0003305": "Block vertebrae", "HP:0003306": "Spinal rigidity", "HP:0003307": "Hyperlordosis", "HP:0003308": "Cervical subluxation", "HP:0003309": "Ovoid thoracolumbar vertebrae", "HP:0003310": "Abnormality of the odontoid process", "HP:0003311": "Hypoplasia of the odontoid process", "HP:0003312": "Abnormal form of the vertebral bodies", "HP:0003316": "Butterfly vertebrae", "HP:0003318": "Cervical spine hypermobility", "HP:0003319": "Abnormality of the cervical spine", "HP:0003320": "C1-C2 subluxation", "HP:0003321": "Biconcave flattened vertebrae", "HP:0003323": "Progressive muscle weakness", "HP:0003324": "Generalized muscle weakness", "HP:0003325": "Limb-girdle muscle weakness", "HP:0003326": "Myalgia", "HP:0003327": "Axial muscle weakness", "HP:0003328": "Abnormal hairshaft morphology", "HP:0003329": "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes", "HP:0003330": "Abnormal bone structure", "HP:0003332": "Absent primary metaphyseal spongiosa", "HP:0003333": "Increased serum beta-hexosaminidase", "HP:0003334": "Elevated circulating catecholamine level", "HP:0003336": "Abnormal enchondral ossification", "HP:0003337": "Reduced prothrombin consumption", "HP:0003338": "Focal necrosis of right ventricular muscle cells", "HP:0003339": "Pyrimidine-responsive megaloblastic anemia", "HP:0003341": "Lamina lucida cleavage", "HP:0003343": "Reduced glutathione synthetase level", "HP:0003344": "3-Methylglutaric aciduria", "HP:0003345": "Elevated urinary norepinephrine", "HP:0003347": "Impaired lymphocyte transformation with phytohemagglutinin", "HP:0003348": "Hyperalaninemia", "HP:0003349": "Low cholesterol esterification rate", "HP:0003351": "Decreased circulating renin level", "HP:0003352": "Endopolyploidy on chromosome studies of bone marrow", "HP:0003353": "Propionyl-CoA carboxylase deficiency", "HP:0003354": "Hyperthreoninemia", "HP:0003355": "Aminoaciduria", "HP:0003357": "Thymic hormone decreased", "HP:0003358": "Elevated intracellular cystine", "HP:0003359": "Decreased urinary sulfate", "HP:0003361": "Tryptophanuria", "HP:0003362": "Increased VLDL cholesterol concentration", "HP:0003363": "Abdominal situs inversus", "HP:0003365": "Arthralgia of the hip", "HP:0003366": "Abnormal femoral neck/head morphology", "HP:0003367": "Abnormal femoral neck morphology", "HP:0003368": "Abnormal femoral head morphology", "HP:0003370": "Flat capital femoral epiphysis", "HP:0003371": "Enlargement of the proximal femoral epiphysis", "HP:0003375": "Narrow greater sciatic notch", "HP:0003376": "Steppage gait", "HP:0003378": "Axonal degeneration/regeneration", "HP:0003380": "Decreased number of peripheral myelinated nerve fibers", "HP:0003382": "Hypertrophic nerve changes", "HP:0003383": "Onion bulb formation", "HP:0003384": "Peripheral axonal atrophy", "HP:0003387": "Decreased number of large peripheral myelinated nerve fibers", "HP:0003388": "Easy fatigability", "HP:0003390": "Sensory axonal neuropathy", "HP:0003391": "Gowers sign", "HP:0003392": "First dorsal interossei muscle weakness", "HP:0003393": "Thenar muscle atrophy", "HP:0003394": "Muscle spasm", "HP:0003396": "Syringomyelia", "HP:0003397": "Generalized hypotonia due to defect at the neuromuscular junction", "HP:0003398": "Abnormal synaptic transmission at the neuromuscular junction", "HP:0003400": "Basal lamina onion bulb formation", "HP:0003401": "Paresthesia", "HP:0003402": "Decreased miniature endplate potentials", "HP:0003403": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "HP:0003405": "Diffuse axonal swelling", "HP:0003406": "Peripheral nerve compression", "HP:0003409": "Distal sensory impairment of all modalities", "HP:0003411": "Proximal femoral metaphyseal irregularity", "HP:0003413": "Atlantoaxial abnormality", "HP:0003414": "Atlantoaxial dislocation", "HP:0003416": "Spinal canal stenosis", "HP:0003417": "Coronal cleft vertebrae", "HP:0003418": "Back pain", "HP:0003419": "Low back pain", "HP:0003422": "Vertebral segmentation defect", "HP:0003423": "Thoracolumbar kyphoscoliosis", "HP:0003426": "First dorsal interossei muscle atrophy", "HP:0003427": "Thenar muscle weakness", "HP:0003429": "CNS hypomyelination", "HP:0003431": "Decreased motor nerve conduction velocity", "HP:0003434": "Sensory ataxic neuropathy", "HP:0003435": "Cold-induced hand cramps", "HP:0003436": "Prolonged miniature endplate currents", "HP:0003438": "Absent Achilles reflex", "HP:0003440": "Horizontal sacrum", "HP:0003443": "Decreased size of nerve terminals", "HP:0003444": "EMG: chronic denervation signs", "HP:0003445": "EMG: neuropathic changes", "HP:0003447": "Axonal loss", "HP:0003448": "Decreased sensory nerve conduction velocity", "HP:0003449": "Cold-induced muscle cramps", "HP:0003450": "Axonal regeneration", "HP:0003451": "Increased rate of premature chromosome condensation", "HP:0003452": "Increased serum iron", "HP:0003453": "Antineutrophil antibody positivity", "HP:0003454": "Platelet antibody positive", "HP:0003455": "Elevated circulating long chain fatty acid concentration", "HP:0003456": "Low urinary cyclic AMP response to PTH administration", "HP:0003457": "EMG abnormality", "HP:0003458": "EMG: myopathic abnormalities", "HP:0003459": "Polyclonal elevation of IgM", "HP:0003460": "Decreased circulating total IgA", "HP:0003461": "Increased urinary O-linked sialopeptides", "HP:0003462": "Elevated 8-dehydrocholesterol", "HP:0003463": "Increased extraneuronal autofluorescent lipopigment", "HP:0003465": "Elevated 8(9)-cholestenol", "HP:0003466": "Paradoxical increased cortisol secretion on dexamethasone suppression test", "HP:0003467": "Atlantoaxial instability", "HP:0003468": "Abnormal vertebral morphology", "HP:0003469": "Peripheral dysmyelination", "HP:0003470": "Paralysis", "HP:0003472": "Hypocalcemic tetany", "HP:0003473": "Fatigable weakness", "HP:0003474": "Somatic sensory dysfunction", "HP:0003477": "Peripheral axonal neuropathy", "HP:0003481": "Segmental peripheral demyelination/remyelination", "HP:0003482": "EMG: axonal abnormality", "HP:0003484": "Upper limb muscle weakness", "HP:0003487": "Babinski sign", "HP:0003489": "Acute episodes of neuropathic symptoms", "HP:0003491": "Elevated urine pyrophosphate", "HP:0003492": "High urinary gonadotropin level", "HP:0003493": "Antinuclear antibody positivity", "HP:0003495": "GM2-ganglioside accumulation", "HP:0003496": "Increased circulating IgM level", "HP:0003498": "Disproportionate short stature", "HP:0003502": "Mild short stature", "HP:0003508": "Proportionate short stature", "HP:0003510": "Severe short stature", "HP:0003513": "Reduced ratio of renal calcium clearance to creatinine clearance", "HP:0003514": "Deficiency or absence of cytochrome b(-245)", "HP:0003517": "Birth length greater than 97th percentile", "HP:0003521": "Disproportionate short-trunk short stature", "HP:0003524": "Decreased methionine synthase activity", "HP:0003526": "Orotic acid crystalluria", "HP:0003527": "Hyperprostaglandinuria", "HP:0003528": "Elevated calcitonin", "HP:0003529": "Parathormone-independent increased renal tubular calcium reabsorption", "HP:0003530": "Elevated circulating glutaric acid concentration", "HP:0003532": "Ornithinuria", "HP:0003533": "Reduced acetaldehyde dehydrogenase level", "HP:0003534": "Reduced xanthine dehydrogenase level", "HP:0003535": "3-Methylglutaconic aciduria", "HP:0003536": "Decreased fumarate hydratase activity", "HP:0003537": "Hypouricemia", "HP:0003538": "Increased iduronate sulfatase level", "HP:0003540": "Impaired platelet aggregation", "HP:0003541": "Urinary glycosaminoglycan excretion", "HP:0003542": "Increased serum pyruvate", "HP:0003546": "Exercise intolerance", "HP:0003547": "Shoulder girdle muscle weakness", "HP:0003548": "Subsarcolemmal accumulations of abnormally shaped mitochondria", "HP:0003549": "Abnormality of connective tissue", "HP:0003550": "Predominantly lower limb lymphedema", "HP:0003551": "Difficulty climbing stairs", "HP:0003552": "Muscle stiffness", "HP:0003554": "Type 2 muscle fiber atrophy", "HP:0003555": "Muscle fiber splitting", "HP:0003557": "Increased variability in muscle fiber diameter", "HP:0003558": "Viral infection-induced rhabdomyolysis", "HP:0003559": "Muscle hyperirritability", "HP:0003560": "Muscular dystrophy", "HP:0003561": "Birth length less than 3rd percentile", "HP:0003562": "Abnormal metaphyseal vascular invasion", "HP:0003563": "Decreased LDL cholesterol concentration", "HP:0003564": "Folate-dependent fragile site at Xq28", "HP:0003565": "Elevated erythrocyte sedimentation rate", "HP:0003566": "Increased serum prostaglandin E2", "HP:0003568": "Decreased glucosephosphate isomerase level", "HP:0003570": "Molybdenum cofactor deficiency", "HP:0003571": "Propionic acidemia", "HP:0003572": "Low plasma citrulline", "HP:0003573": "Increased total bilirubin", "HP:0003574": "Positive regitine blocking test", "HP:0003575": "Increased intracellular sodium", "HP:0003577": "Congenital onset", "HP:0003581": "Adult onset", "HP:0003584": "Late onset", "HP:0003587": "Insidious onset", "HP:0003593": "Infantile onset", "HP:0003596": "Middle age onset", "HP:0003606": "Absent urinary urothione", "HP:0003607": "4-hydroxyphenylacetic aciduria", "HP:0003609": "Foam cells with lamellar inclusion bodies", "HP:0003610": "Fibroblast metachromasia", "HP:0003612": "Positive ferric chloride test", "HP:0003613": "Antiphospholipid antibody positivity", "HP:0003614": "Trimethylaminuria", "HP:0003616": "Premature separation of centromeric heterochromatin", "HP:0003621": "Juvenile onset", "HP:0003623": "Neonatal onset", "HP:0003634": "Amyoplasia", "HP:0003635": "Loss of subcutaneous adipose tissue in limbs", "HP:0003637": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", "HP:0003639": "Elevated urinary epinephrine", "HP:0003640": "CNS foam cells", "HP:0003641": "Hemoglobinuria", "HP:0003642": "Type I transferrin isoform profile", "HP:0003643": "Sulfite oxidase deficiency", "HP:0003645": "Prolonged partial thromboplastin time", "HP:0003646": "Bicarbonaturia", "HP:0003647": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect", "HP:0003648": "Lacticaciduria", "HP:0003649": "Abnormality of glycoside metabolism", "HP:0003651": "Foam cells", "HP:0003652": "Recurrent myoglobinuria", "HP:0003653": "Cellular metachromasia", "HP:0003654": "Reduced dihydropyrimidine dehydrogenase level", "HP:0003655": "Reduced level of N-acetylglucosaminyltransferase II", "HP:0003656": "Decreased beta-glucocerebrosidase level", "HP:0003657": "Vascular granular osmiophilic material deposition", "HP:0003658": "Hypomethioninemia", "HP:0003665": "Amyotrophy of the musculature of the pelvis", "HP:0003674": "Onset", "HP:0003676": "Progressive", "HP:0003677": "Slowly progressive", "HP:0003678": "Rapidly progressive", "HP:0003679": "Pace of progression", "HP:0003680": "Nonprogressive", "HP:0003682": "Variable progression rate", "HP:0003687": "Centrally nucleated skeletal muscle fibers", "HP:0003688": "Cytochrome C oxidase-negative muscle fibers", "HP:0003689": "Multiple mitochondrial DNA deletions", "HP:0003690": "Limb muscle weakness", "HP:0003691": "Scapular winging", "HP:0003693": "Distal amyotrophy", "HP:0003694": "Late-onset proximal muscle weakness", "HP:0003696": "Absent epiphysis of the distal phalanx of the 5th finger", "HP:0003697": "Scapuloperoneal amyotrophy", "HP:0003698": "Difficulty standing", "HP:0003700": "Generalized amyotrophy", "HP:0003701": "Proximal muscle weakness", "HP:0003704": "Scapuloperoneal weakness", "HP:0003707": "Calf muscle pseudohypertrophy", "HP:0003710": "Exercise-induced muscle cramps", "HP:0003712": "Skeletal muscle hypertrophy", "HP:0003713": "Muscle fiber necrosis", "HP:0003715": "Myofibrillar myopathy", "HP:0003716": "Generalized muscular appearance from birth", "HP:0003717": "Minimal subcutaneous fat", "HP:0003719": "Muscle mounding", "HP:0003720": "Generalized muscle hypertrophy", "HP:0003722": "Neck flexor weakness", "HP:0003724": "Shoulder girdle muscle atrophy", "HP:0003725": "Firm muscles", "HP:0003729": "Enteroviral dermatomyositis syndrome", "HP:0003730": "EMG: myotonic runs", "HP:0003731": "Quadriceps muscle weakness", "HP:0003733": "Thigh hypertrophy", "HP:0003736": "Autophagic vacuoles", "HP:0003737": "Mitochondrial myopathy", "HP:0003738": "Exercise-induced myalgia", "HP:0003739": "Myoclonic spasms", "HP:0003740": "Myotonia with warm-up phenomenon", "HP:0003741": "Congenital muscular dystrophy", "HP:0003743": "Genetic anticipation", "HP:0003744": "Genetic anticipation with paternal anticipation bias", "HP:0003745": "Sporadic", "HP:0003749": "Pelvic girdle muscle weakness", "HP:0003750": "Increased muscle fatiguability", "HP:0003752": "Episodic flaccid weakness", "HP:0003755": "Type 1 fibers relatively smaller than type 2 fibers", "HP:0003756": "Skeletal myopathy", "HP:0003758": "Reduced subcutaneous adipose tissue", "HP:0003759": "Hypoplasia of lymphatic vessels", "HP:0003760": "Percussion-induced rapid rolling muscle contractions", "HP:0003761": "Calcinosis", "HP:0003762": "Uterus didelphys", "HP:0003763": "Bruxism", "HP:0003764": "Nevus", "HP:0003765": "Psoriasiform dermatitis", "HP:0003768": "Periodic paralysis", "HP:0003771": "Pulp calcification", "HP:0003774": "Stage 5 chronic kidney disease", "HP:0003777": "Pili torti", "HP:0003778": "Short mandibular rami", "HP:0003779": "Antegonial notching of mandible", "HP:0003781": "Excessive salivation", "HP:0003782": "Eunuchoid habitus", "HP:0003784": "Type 1 collagen overmodification", "HP:0003785": "Decreased CSF homovanillic acid concentration", "HP:0003787": "Type 1 and type 2 muscle fiber minicore regions", "HP:0003789": "Minicore myopathy", "HP:0003791": "Deposits immunoreactive to beta-amyloid protein", "HP:0003795": "Short middle phalanx of toe", "HP:0003796": "Irregular iliac crest", "HP:0003797": "Limb-girdle muscle atrophy", "HP:0003798": "Nemaline bodies", "HP:0003799": "Marked delay in bone age", "HP:0003800": "Muscle abnormality related to mitochondrial dysfunction", "HP:0003803": "Type 1 muscle fiber predominance", "HP:0003805": "Rimmed vacuoles", "HP:0003808": "Abnormal muscle tone", "HP:0003809": "Reduced intrathoracic adipose tissue", "HP:0003810": "Late-onset distal muscle weakness", "HP:0003811": "Neonatal death", "HP:0003812": "Phenotypic variability", "HP:0003819": "Death in childhood", "HP:0003826": "Stillbirth", "HP:0003828": "Variable expressivity", "HP:0003829": "Typified by incomplete penetrance", "HP:0003831": "Typified by age-related disease onset", "HP:0003832": "Abnormality of the tibial plateaux", "HP:0003833": "Laterally deficient tibial plateaux", "HP:0003834": "Shoulder dislocation", "HP:0003835": "Shoulder subluxation", "HP:0003836": "Stippled calcification of the shoulder", "HP:0003837": "Soft-tissue ossification around the shoulders", "HP:0003839": "Abnormality of upper limb epiphysis morphology", "HP:0003840": "Delayed upper limb epiphyseal ossification", "HP:0003841": "Fragmented epiphyses of the upper limbs", "HP:0003842": "Irregular epiphyses of the upper limbs", "HP:0003843": "Round epiphyses of the upper limbs", "HP:0003844": "Small epiphyses of the upper limbs", "HP:0003846": "Wide epiphyseal plates of the upper limbs", "HP:0003848": "Cupped metaphyses of the upper limbs", "HP:0003849": "Flared upper limb metaphysis", "HP:0003850": "Upper-limb metaphyseal irregularity", "HP:0003851": "Lytic defects in metaphyses of the upper limbs", "HP:0003852": "Normal density transverse bands in metaphyses of the upper limbs", "HP:0003853": "Sclerosis with transverse striations in metaphyses of the upper limbs", "HP:0003854": "Sclerosis of metaphyses of the upper limbs", "HP:0003855": "Spurred metaphyses of the upper limbs", "HP:0003856": "Upper limb metaphyseal widening", "HP:0003858": "Cortical diaphyseal irregularity of the upper limbs", "HP:0003859": "Cortical diaphyseal thickening of the upper limbs", "HP:0003860": "Diaphyseal sclerosis of the upper limbs", "HP:0003861": "Broad diaphyses of the upper limbs", "HP:0003862": "Absent humerus", "HP:0003863": "Angulated humerus", "HP:0003864": "Bifid humerus", "HP:0003865": "Bowed humerus", "HP:0003866": "Coarse humeral trabeculae", "HP:0003867": "Humeral cortical irregularity", "HP:0003868": "Humeral cortical thickening", "HP:0003869": "Humeral cortical thinning", "HP:0003870": "Crumpled humerus", "HP:0003871": "Deformed humerus", "HP:0003872": "Humeral exostoses", "HP:0003874": "Humerus varus", "HP:0003875": "Humeral lytic defects", "HP:0003876": "Osteoporotic humerus", "HP:0003877": "Oval transradiancy of humerus", "HP:0003878": "Periosteal new bone of humerus", "HP:0003879": "Humeral pseudarthrosis", "HP:0003880": "Sclerotic foci of the humerus", "HP:0003881": "Humeral sclerosis", "HP:0003882": "Slender humerus", "HP:0003883": "Tapered humerus", "HP:0003884": "Triangular humerus", "HP:0003885": "Undermodeled humerus", "HP:0003886": "Wide humerus", "HP:0003887": "Abnormal humeral head morphology", "HP:0003888": "Flattened humeral heads", "HP:0003889": "Abnormal deltoid tuberosity morphology", "HP:0003890": "Prominent deltoid tuberosities", "HP:0003891": "Abnormality of the humeral epiphysis", "HP:0003892": "Absent humeral epiphyseal ossification", "HP:0003893": "Advanced ossification of the humeral epiphysis", "HP:0003894": "Delayed humeral epiphyseal ossification", "HP:0003895": "Flattened humeral epiphyses", "HP:0003896": "Irregular humeral epiphyses", "HP:0003897": "Irregular ossification of the humeral epiphyses", "HP:0003898": "Large humeral epiphyses", "HP:0003899": "Round humeral epiphyses", "HP:0003900": "Small humeral epiphyses", "HP:0003901": "Stippled calcification of the humeral epiphyses", "HP:0003902": "Epiphyseal stippling of the humerus", "HP:0003903": "Broad humeral epiphyses", "HP:0003904": "Wide epiphyses of the upper limbs", "HP:0003905": "Abnormality of the humeral epiphyseal plate", "HP:0003906": "Broad humeral epiphyseal plate", "HP:0003907": "Abnormal humeral metaphysis morphology", "HP:0003908": "Corner fracture of metaphysis", "HP:0003909": "Cortical subperiosteal resorption of humeral metaphyses", "HP:0003910": "Enlarged humeral metaphyses", "HP:0003911": "Flared humeral metaphysis", "HP:0003912": "Frayed humeral metaphyses", "HP:0003913": "Humeral metaphyseal irregularity", "HP:0003914": "Irregular ossification of humeral metaphyses", "HP:0003915": "Lytic defects of the humeral metaphysis", "HP:0003916": "Normal-density transverse humeral bands", "HP:0003917": "Pointed humeral metaphysis", "HP:0003918": "Sclerotic humeral metaphysis", "HP:0003919": "Sclerotic humeral metaphysis with longitudinal striations", "HP:0003920": "Sloping humeral metaphysis", "HP:0003921": "Laterally sloping humeral metaphysis", "HP:0003922": "Spurred humeral metaphysis", "HP:0003923": "Square humeral metaphysis", "HP:0003924": "Stippled calcification of humeral metaphysis", "HP:0003926": "Abnormal humeral diaphysis morphology", "HP:0003927": "Cortical irregularity of humeral diaphysis", "HP:0003928": "Cortical thickening of humeral diaphysis", "HP:0003929": "Ground glass opacity of humeral diaphysis", "HP:0003930": "Lytic defects of humeral diaphysis", "HP:0003931": "Periosteal new bone of humeral diaphysis", "HP:0003932": "Sclerotic foci of humeral diaphysis", "HP:0003933": "Sclerosis of humeral diaphysis", "HP:0003934": "Slender humeral diaphysis", "HP:0003935": "Wide humeral diaphysis", "HP:0003938": "Synostosis involving the elbow", "HP:0003939": "Humeroulnar synostosis", "HP:0003940": "Osteoarthritis of the elbow", "HP:0003941": "Stippled calcification of the elbow", "HP:0003942": "Synovial chondromatosis of the elbow", "HP:0003943": "Abnormality of the joint spaces of the elbow", "HP:0003944": "Narrow joint spaces of the elbow", "HP:0003945": "Irregular articular surfaces of the elbow joints", "HP:0003946": "Abnormality of the epiphyses of the elbow", "HP:0003947": "Delayed elbow epiphyseal ossification", "HP:0003948": "Irregular epiphyses of the elbow", "HP:0003949": "Abnormal elbow metaphysis morphology", "HP:0003950": "Flared elbow metaphyses", "HP:0003951": "Distal humeral metaphyseal irregularity", "HP:0003952": "Sclerotic foci of metaphyses of the elbow", "HP:0003953": "Absent forearm bone", "HP:0003954": "Angulated forearm bones", "HP:0003955": "Bone-in-a-bone appearance of forearm", "HP:0003956": "Bowed forearm bones", "HP:0003957": "Cortical thickening of the forearm bones", "HP:0003958": "Cross-fusion of the forearm bones", "HP:0003959": "Deformed forearm bones", "HP:0003960": "Exostoses of the forearm bones", "HP:0003961": "Fractured forearm bones", "HP:0003963": "Lytic defects of the forearm bones", "HP:0003964": "Osteoporotic forearm bones", "HP:0003965": "Pseudarthrosis of the forearm bones", "HP:0003966": "Sclerotic foci in forearm bones", "HP:0003967": "Sclerotic forearm bones", "HP:0003969": "Slender forearm bones", "HP:0003970": "Undermodelled forearm bones", "HP:0003971": "Broad forearm bones", "HP:0003973": "Wide radioulnar joints", "HP:0003974": "Absent radius", "HP:0003976": "Constricted radius", "HP:0003977": "Deformed radius", "HP:0003978": "Fractured radius", "HP:0003979": "Lytic defects of the radius", "HP:0003980": "Pseudarthrosis of the radius", "HP:0003981": "Broad radius", "HP:0003982": "Aplasia of the ulna", "HP:0003984": "Posteriorly dislocated ulna", "HP:0003985": "Exostoses of the ulna", "HP:0003986": "Exostoses of the radius", "HP:0003987": "Fractured ulna", "HP:0003988": "Long ulna", "HP:0003989": "Notched ulna", "HP:0003990": "Pointed ulna", "HP:0003991": "Osteosclerosis of the ulna", "HP:0003992": "Slender ulna", "HP:0003993": "Broad ulna", "HP:0003994": "Dislocated wrist", "HP:0003995": "Abnormality of the radial head", "HP:0003996": "Flattened radial head", "HP:0003997": "Hypoplastic radial head", "HP:0003998": "Constricted radial neck", "HP:0003999": "Abnormality of radial epiphyses", "HP:0004000": "Cone-shaped distal radial epiphysis", "HP:0004001": "Medially deficient radial epiphyses", "HP:0004002": "Flattened radial epiphyses", "HP:0004003": "Medially flattened radial epiphyses", "HP:0004004": "Irregular radial epiphyses", "HP:0004005": "Large radial epiphyses", "HP:0004006": "Round radial epiphyses", "HP:0004007": "Sclerotic radial epiphyses", "HP:0004008": "Sloping radial epiphyses", "HP:0004009": "Medially sloping radial epiphyses", "HP:0004010": "Small radial epiphyses", "HP:0004012": "Premature fusion of the radial epiphyseal plates", "HP:0004013": "Medially fused radial epiphyseal plates", "HP:0004014": "Broad radial epiphyseal plate", "HP:0004015": "Abnormal radial metaphysis morphology", "HP:0004016": "Cupped radial metaphyses", "HP:0004017": "Exostoses of the radial metaphysis", "HP:0004018": "Flared radial metaphysis", "HP:0004019": "Radial metaphyseal irregularity", "HP:0004020": "Irregular ossification of the radial metaphysis", "HP:0004021": "Lytic defects of radial metaphysis", "HP:0004022": "Sclerotic radial metaphysis with longitudinal striations", "HP:0004023": "Sloping radial metaphysis", "HP:0004024": "Medially sloping radial metaphysis", "HP:0004025": "Spurred radial metaphysis", "HP:0004026": "Broad radial metaphysis", "HP:0004027": "Abnormality of radial diaphysis", "HP:0004028": "Spurs of radial diaphysis", "HP:0004029": "Lytic defects of radial diaphysis", "HP:0004030": "Patchy sclerosis of radial diaphysis", "HP:0004031": "Broad radial diaphysis", "HP:0004032": "Abnormal olecranon morphology", "HP:0004033": "Curved olecranon", "HP:0004034": "Irregular olecranon", "HP:0004035": "Abnormal ulnar styloid process morphology", "HP:0004036": "Long styloid process of ulna", "HP:0004037": "Abnormal ulnar epiphysis morphology", "HP:0004039": "Abnormal ulnar metaphysis morphology", "HP:0004040": "Corner fragments of ulnar metaphysis", "HP:0004041": "Cupped ulnar metaphysis", "HP:0004042": "Ulnar metaphyseal irregularity", "HP:0004043": "Lytic defects of ulnar metaphysis", "HP:0004044": "Pointed ulnar metaphysis", "HP:0004045": "Sloping ulnar metaphysis", "HP:0004046": "Spurred ulnar metaphysis", "HP:0004047": "Wide ulnar metaphysis", "HP:0004048": "Narrow joint spaces of wrist", "HP:0004049": "Decreased carpal angles of wrist", "HP:0004050": "Absent hand", "HP:0004051": "Advanced ossification of the hand bones", "HP:0004052": "Delayed ossification of the hand bones", "HP:0004053": "Dysharmonic maturation of the hand bones", "HP:0004054": "Sclerosis of hand bone", "HP:0004057": "Mitten deformity", "HP:0004058": "Hand monodactyly", "HP:0004059": "Radial club hand", "HP:0004060": "Trident hand", "HP:0004095": "Curved fingers", "HP:0004097": "Deviation of finger", "HP:0004099": "Macrodactyly", "HP:0004100": "Abnormal 2nd finger morphology", "HP:0004112": "Midline nasal groove", "HP:0004122": "Midline defect of the nose", "HP:0004132": "Dimple on nasal tip", "HP:0004150": "Abnormal 3rd finger morphology", "HP:0004172": "Abnormality of the middle phalanx of the 3rd finger", "HP:0004180": "Short distal phalanx of the 3rd finger", "HP:0004188": "Abnormal 4th finger morphology", "HP:0004195": "Osteolytic defects of the phalanges of the 4th finger", "HP:0004197": "Symphalangism of the 4th finger", "HP:0004207": "Abnormal 5th finger morphology", "HP:0004209": "Clinodactyly of the 5th finger", "HP:0004213": "Abnormal 5th finger phalanx morphology", "HP:0004214": "Curved phalanges of the 5th finger", "HP:0004216": "Osteolytic defects of the phalanges of the 5th finger", "HP:0004218": "Symphalangism of the 5th finger", "HP:0004219": "Abnormality of the middle phalanx of the 5th finger", "HP:0004220": "Short middle phalanx of the 5th finger", "HP:0004222": "Cone-shaped epiphysis of the distal phalanx of the 5th finger", "HP:0004223": "Ivory epiphysis of the distal phalanx of the 5th finger", "HP:0004224": "Abnormality of the epiphysis of the middle phalanx of the 5th finger", "HP:0004225": "Abnormality of the distal phalanx of the 5th finger", "HP:0004226": "Curved distal phalanx of the 5th finger", "HP:0004227": "Short distal phalanx of the 5th finger", "HP:0004230": "Subluxation of the proximal interphalangeal joint of the little finger", "HP:0004231": "Carpal bone aplasia", "HP:0004232": "Accessory carpal bones", "HP:0004233": "Advanced ossification of carpal bones", "HP:0004234": "Bone-in-a-bone appearance of carpal bones", "HP:0004235": "Comma-shaped carpal bones", "HP:0004236": "Irregular carpal bones", "HP:0004237": "Large carpal bones", "HP:0004238": "Lytic defects of carpal bones", "HP:0004239": "Proximally placed carpal bones", "HP:0004240": "Sclerotic foci within carpal bones", "HP:0004241": "Stippled calcification in carpal bones", "HP:0004242": "Broad carpal bones", "HP:0004243": "Abnormality of the scaphoid", "HP:0004244": "Accessory scaphoid", "HP:0004245": "Comma-shaped scaphoid", "HP:0004246": "Delayed ossification of the scaphoid", "HP:0004247": "Small scaphoid", "HP:0004248": "Abnormality of the lunate bone", "HP:0004249": "Accessory lunate", "HP:0004250": "Proximally placed lunate", "HP:0004251": "Lunate-triquetral fusion", "HP:0004252": "Abnormality of the trapezium", "HP:0004253": "Absent trapezium", "HP:0004254": "Delayed ossification of the trapezium", "HP:0004255": "Small trapezium", "HP:0004256": "Abnormality of the trapezoid bone", "HP:0004257": "Delayed ossification of the trapezoid bone", "HP:0004258": "Small trapezoid bone", "HP:0004259": "Abnormality of the hamate bone", "HP:0004260": "Large hamate bone", "HP:0004261": "Wide hamate bone", "HP:0004262": "Abnormality of the capitate bone", "HP:0004263": "Large capitate bone", "HP:0004264": "Narrow carpal joint spaces", "HP:0004267": "Narrow small joints of the hand", "HP:0004268": "Osteoarthritis of the small joints of the hand", "HP:0004269": "Subluxation of the small joints of the hand", "HP:0004271": "Cortical thickening of hand bones", "HP:0004272": "Cortical thinning of hand bones", "HP:0004273": "Cupped metaphyses of hand bones", "HP:0004274": "Deficient ossification of hand bones", "HP:0004275": "Duplication of hand bones", "HP:0004276": "Exostoses of hand bones", "HP:0004277": "Fractured hand bones", "HP:0004278": "Synostosis involving bones of the hand", "HP:0004279": "Short palm", "HP:0004280": "Irregular ossification of hand bones", "HP:0004281": "Irregular sclerosis of hand bones", "HP:0004283": "Narrow palm", "HP:0004284": "Notched hand bones", "HP:0004285": "Overmodelled hand bones", "HP:0004286": "Patchy sclerosis of hand bones", "HP:0004287": "Pointed hand bones", "HP:0004288": "Pseudoepiphyses of hand bones", "HP:0004289": "Sclerotic foci in hand bones", "HP:0004290": "Sclerosis of hand bones with transverse striations", "HP:0004291": "Stippled calcification of hand bones", "HP:0004292": "Undermodelled hand bones", "HP:0004293": "Synostosis of second metacarpal-trapezoid", "HP:0004294": "Subluxation of metacarpal phalangeal joints", "HP:0004295": "Abnormal gastric mucosa morphology", "HP:0004296": "Abnormal gastrointestinal vascular morphology", "HP:0004297": "Abnormality of the biliary system", "HP:0004298": "Abnormality of the abdominal wall", "HP:0004299": "Hernia of the abdominal wall", "HP:0004302": "Functional motor deficit", "HP:0004303": "Abnormal muscle fiber morphology", "HP:0004305": "Involuntary movements", "HP:0004306": "Abnormal endocardium morphology", "HP:0004307": "Abnormal anatomic location of the heart", "HP:0004308": "Ventricular arrhythmia", "HP:0004309": "Ventricular preexcitation", "HP:0004311": "Abnormal macrophage morphology", "HP:0004312": "Abnormal reticulocyte morphology", "HP:0004313": "Decreased circulating antibody level", "HP:0004315": "Decreased circulating IgG level", "HP:0004319": "Decreased circulating aldosterone level", "HP:0004320": "Vaginal fistula", "HP:0004321": "Bladder fistula", "HP:0004322": "Short stature", "HP:0004323": "Abnormality of body weight", "HP:0004324": "Increased body weight", "HP:0004325": "Decreased body weight", "HP:0004326": "Cachexia", "HP:0004327": "Abnormal vitreous humor morphology", "HP:0004328": "Abnormal anterior eye segment morphology", "HP:0004329": "Abnormal posterior eye segment morphology", "HP:0004330": "Increased skull ossification", "HP:0004331": "Decreased skull ossification", "HP:0004332": "Abnormal lymphocyte morphology", "HP:0004333": "Bone-marrow foam cells", "HP:0004334": "Dermal atrophy", "HP:0004336": "Myelin outfoldings", "HP:0004337": "Abnormality of amino acid metabolism", "HP:0004338": "Abnormal circulating aromatic amino acid concentration", "HP:0004339": "Abnormal circulating sulfur amino acid concentration", "HP:0004340": "Abnormality of vitamin B metabolism", "HP:0004341": "Abnormality of vitamin B12 metabolism", "HP:0004342": "Abnormality of galactoside metabolism", "HP:0004343": "Abnormal glycosphingolipid metabolism", "HP:0004344": "Abnormality of cerebrosidase metabolism", "HP:0004345": "Ganglioside accumulation", "HP:0004347": "Weakness of muscles of respiration", "HP:0004348": "Abnormality of bone mineral density", "HP:0004349": "Reduced bone mineral density", "HP:0004352": "Abnormal circulating purine concentration", "HP:0004353": "Abnormal circulating pyrimidine concentration", "HP:0004354": "Abnormal circulating carboxylic acid concentration", "HP:0004356": "Abnormality of lysosomal metabolism", "HP:0004357": "Abnormal circulating leucine concentration", "HP:0004358": "Abnormality of superoxide metabolism", "HP:0004359": "Abnormal circulating fatty-acid concentration", "HP:0004360": "Abnormality of acid-base homeostasis", "HP:0004361": "Abnormal circulating leptin concentration", "HP:0004362": "Abnormality of enteric ganglion morphology", "HP:0004363": "Abnormal circulating calcium concentration", "HP:0004364": "Abnormal circulating nitrogen compound concentration", "HP:0004365": "Abnormal circulating tryptophan concentration", "HP:0004366": "Abnormality of glycolysis", "HP:0004368": "Increased circulating purine concentration", "HP:0004369": "Decreased circulating purine concentration", "HP:0004370": "Abnormality of temperature regulation", "HP:0004371": "Abnormality of glycosaminoglycan metabolism", "HP:0004372": "Reduced consciousness/confusion", "HP:0004373": "Focal dystonia", "HP:0004374": "Hemiplegia/hemiparesis", "HP:0004375": "Neoplasm of the nervous system", "HP:0004376": "Neuroblastic tumor", "HP:0004377": "Hematological neoplasm", "HP:0004378": "Abnormality of the anus", "HP:0004379": "Abnormality of alkaline phosphatase level", "HP:0004380": "Aortic valve calcification", "HP:0004381": "Supravalvular aortic stenosis", "HP:0004382": "Mitral valve calcification", "HP:0004383": "Hypoplastic left heart", "HP:0004384": "Type I truncus arteriosus", "HP:0004385": "Protracted diarrhea", "HP:0004386": "Gastrointestinal inflammation", "HP:0004387": "Enterocolitis", "HP:0004388": "Microcolon", "HP:0004389": "Intestinal pseudo-obstruction", "HP:0004390": "Hamartomatous polyposis", "HP:0004392": "Prune belly", "HP:0004394": "Multiple gastric polyps", "HP:0004395": "Malnutrition", "HP:0004396": "Poor appetite", "HP:0004397": "Ectopic anus", "HP:0004398": "Peptic ulcer", "HP:0004399": "Congenital pyloric atresia", "HP:0004400": "Abnormality of the pylorus", "HP:0004401": "Meconium ileus", "HP:0004403": "Proximal esophageal atresia", "HP:0004404": "Abnormal nipple morphology", "HP:0004405": "Prominent nipples", "HP:0004406": "Spontaneous, recurrent epistaxis", "HP:0004407": "Bony paranasal bossing", "HP:0004408": "Abnormality of the sense of smell", "HP:0004409": "Hyposmia", "HP:0004411": "Deviated nasal septum", "HP:0004414": "Abnormality of the pulmonary artery", "HP:0004415": "Pulmonary artery stenosis", "HP:0004416": "Precocious atherosclerosis", "HP:0004417": "Intermittent claudication", "HP:0004418": "Thrombophlebitis", "HP:0004419": "Recurrent thrombophlebitis", "HP:0004420": "Arterial thrombosis", "HP:0004421": "Elevated systolic blood pressure", "HP:0004422": "Biparietal narrowing", "HP:0004423": "Cranium bifidum occultum", "HP:0004425": "Flat forehead", "HP:0004426": "Abnormal cheek morphology", "HP:0004428": "Elfin facies", "HP:0004429": "Recurrent viral infections", "HP:0004430": "Severe combined immunodeficiency", "HP:0004431": "Complement deficiency", "HP:0004432": "Agammaglobulinemia", "HP:0004433": "Secretory IgA deficiency", "HP:0004434": "Decreased circulating complement C8 concentration", "HP:0004437": "Cranial hyperostosis", "HP:0004438": "Hyperostosis frontalis interna", "HP:0004439": "Craniofacial dysostosis", "HP:0004440": "Coronal craniosynostosis", "HP:0004442": "Sagittal craniosynostosis", "HP:0004443": "Lambdoidal craniosynostosis", "HP:0004444": "Spherocytosis", "HP:0004445": "Elliptocytosis", "HP:0004446": "Stomatocytosis", "HP:0004447": "Poikilocytosis", "HP:0004448": "Fulminant hepatic failure", "HP:0004450": "Preauricular skin furrow", "HP:0004451": "Postauricular skin tag", "HP:0004452": "Abnormality of the middle ear ossicles", "HP:0004453": "Overfolding of the superior helices", "HP:0004454": "Abnormal middle ear reflexes", "HP:0004458": "Dilatated internal auditory canal", "HP:0004459": "Exostosis of the external auditory canal", "HP:0004461": "Congenital earlobe sinuses", "HP:0004463": "Absent brainstem auditory responses", "HP:0004464": "Postauricular pit", "HP:0004466": "Prolonged brainstem auditory evoked potentials", "HP:0004467": "Preauricular pit", "HP:0004468": "Anomalous tracheal cartilage", "HP:0004469": "Chronic bronchitis", "HP:0004470": "Atretic occipital cephalocele", "HP:0004471": "Aplasia cutis congenita over the scalp vertex", "HP:0004472": "Mandibular hyperostosis", "HP:0004474": "Persistent open anterior fontanelle", "HP:0004476": "Aplasia cutis congenita over parietal area", "HP:0004478": "Ethmoidal encephalocele", "HP:0004481": "Progressive macrocephaly", "HP:0004482": "Relative macrocephaly", "HP:0004484": "Craniofacial asymmetry", "HP:0004485": "Cessation of head growth", "HP:0004487": "Acrobrachycephaly", "HP:0004488": "Macrocephaly at birth", "HP:0004490": "Calvarial hyperostosis", "HP:0004491": "Large posterior fontanelle", "HP:0004492": "Widely patent fontanelles and sutures", "HP:0004493": "Craniofacial hyperostosis", "HP:0004499": "Chronic rhinitis due to narrow nasal airway", "HP:0004502": "Bilateral choanal atresia", "HP:0004510": "Pancreatic islet-cell hyperplasia", "HP:0004523": "Long eyebrows", "HP:0004524": "Temporal hypotrichosis", "HP:0004527": "Large clumps of pigment irregularly distributed along hair shaft", "HP:0004528": "Generalized hypotrichosis", "HP:0004529": "Atrophic, patchy alopecia", "HP:0004532": "Sacral hypertrichosis", "HP:0004535": "Anterior cervical hypertrichosis", "HP:0004540": "Congenital, generalized hypertrichosis", "HP:0004552": "Scarring alopecia of scalp", "HP:0004554": "Generalized hypertrichosis", "HP:0004557": "Anterior vertebral fusion", "HP:0004558": "Cervical platyspondyly", "HP:0004562": "Beaking of vertebral bodies T12-L3", "HP:0004563": "Increased spinal bone density", "HP:0004565": "Severe platyspondyly", "HP:0004566": "Pear-shaped vertebrae", "HP:0004568": "Beaking of vertebral bodies", "HP:0004570": "Increased vertebral height", "HP:0004571": "Widening of cervical spinal canal", "HP:0004573": "Anterior wedging of T11", "HP:0004575": "Fusion of midcervical facet joints", "HP:0004576": "Sclerotic vertebral endplates", "HP:0004580": "Anterior scalloping of vertebral bodies", "HP:0004581": "Increased anterior vertebral height", "HP:0004582": "Irregularity of vertebral bodies", "HP:0004586": "Biconcave vertebral bodies", "HP:0004589": "Dysplasia of second lumbar vertebra", "HP:0004590": "Hypoplastic sacrum", "HP:0004591": "Disc-like vertebral bodies", "HP:0004592": "Thoracic platyspondyly", "HP:0004594": "Hump-shaped mound of bone in central and posterior portions of vertebral endplate", "HP:0004598": "Supernumerary vertebral ossification centers", "HP:0004599": "Absent or minimally ossified vertebral bodies", "HP:0004601": "Spina bifida occulta at L5", "HP:0004602": "Cervical C2/C3 vertebral fusion", "HP:0004603": "Hyperconvex vertebral body endplates", "HP:0004605": "Absent vertebral body mineralization", "HP:0004606": "Unossified vertebral bodies", "HP:0004607": "Anterior beaking of lower thoracic vertebrae", "HP:0004608": "Anteriorly placed odontoid process", "HP:0004609": "Patchy distortion of vertebrae", "HP:0004610": "Lumbar spinal canal stenosis", "HP:0004611": "Anterior concavity of thoracic vertebrae", "HP:0004614": "Spina bifida occulta at S1", "HP:0004616": "Cleft vertebral arch", "HP:0004617": "Butterfly vertebral arch", "HP:0004618": "Sandwich appearance of vertebral bodies", "HP:0004619": "Lumbar kyphoscoliosis", "HP:0004621": "Enlarged vertebral pedicles", "HP:0004622": "Progressive intervertebral space narrowing", "HP:0004625": "Biconvex vertebral bodies", "HP:0004626": "Lumbar scoliosis", "HP:0004629": "Small cervical vertebral bodies", "HP:0004630": "Anterior beaking of thoracic vertebrae", "HP:0004631": "Decreased cervical spine flexion due to contractures of posterior cervical muscles", "HP:0004632": "Cervical segmentation defect", "HP:0004633": "Lower thoracic kyphosis", "HP:0004634": "Cuboid-shaped vertebral bodies", "HP:0004635": "Cervical C5/C6 vertebrae fusion", "HP:0004637": "Decreased cervical spine mobility", "HP:0004639": "Elevated amniotic fluid alpha-fetoprotein", "HP:0004646": "Hypoplasia of the nasal bone", "HP:0004660": "Hypoplasia of facial musculature", "HP:0004661": "Frontalis muscle weakness", "HP:0004664": "Facial midline hemangioma", "HP:0004673": "Decreased facial expression", "HP:0004676": "Prominent supraorbital arches in adult", "HP:0004679": "Large tarsal bones", "HP:0004681": "Deep longitudinal plantar crease", "HP:0004684": "Talipes valgus", "HP:0004686": "Short third metatarsal", "HP:0004688": "Irregular tarsal bones", "HP:0004689": "Short fourth metatarsal", "HP:0004690": "Thickened Achilles tendon", "HP:0004691": "2-3 toe syndactyly", "HP:0004692": "4-5 toe syndactyly", "HP:0004695": "Calcaneal epiphyseal stippling", "HP:0004696": "Talipes cavus equinovarus", "HP:0004699": "Osteoporotic metatarsal", "HP:0004704": "Short fifth metatarsal", "HP:0004712": "Renal malrotation", "HP:0004713": "Reversible renal failure", "HP:0004717": "Axial malrotation of the kidney", "HP:0004719": "Hyperechogenic kidneys", "HP:0004722": "Thickened glomerular basement membrane", "HP:0004724": "Calcium nephrolithiasis", "HP:0004727": "Impaired renal concentrating ability", "HP:0004729": "Acute tubulointerstitial nephritis", "HP:0004732": "Impaired renal uric acid clearance", "HP:0004734": "Renal cortical microcysts", "HP:0004736": "Crossed fused renal ectopia", "HP:0004737": "Global glomerulosclerosis", "HP:0004742": "Abnormal renal collecting system morphology", "HP:0004743": "Chronic tubulointerstitial nephritis", "HP:0004746": "Glomerular subendothelial electron-dense deposits", "HP:0004749": "Atrial flutter", "HP:0004751": "Paroxysmal ventricular tachycardia", "HP:0004752": "Congenital atrioventricular dissociation", "HP:0004754": "Permanent atrial fibrillation", "HP:0004755": "Supraventricular tachycardia", "HP:0004756": "Ventricular tachycardia", "HP:0004757": "Paroxysmal atrial fibrillation", "HP:0004758": "Effort-induced polymorphic ventricular tachycardia", "HP:0004761": "Post-angioplasty coronary artery restenosis", "HP:0004762": "Hypoplasia of right ventricle", "HP:0004763": "Paroxysmal supraventricular tachycardia", "HP:0004764": "Myxomatous mitral valve degeneration", "HP:0004768": "Sparse anterior scalp hair", "HP:0004771": "Premature graying of body hair", "HP:0004779": "Brittle scalp hair", "HP:0004780": "Elbow hypertrichosis", "HP:0004783": "Duodenal polyposis", "HP:0004784": "Juvenile gastrointestinal polyposis", "HP:0004785": "Malrotation of colon", "HP:0004786": "Jejunal diverticula", "HP:0004787": "Fulminant hepatitis", "HP:0004788": "Intestinal lymphedema", "HP:0004789": "Lactose intolerance", "HP:0004790": "Hypoplasia of the small intestine", "HP:0004791": "Esophageal ulceration", "HP:0004792": "Rectoperineal fistula", "HP:0004794": "Malrotation of small bowel", "HP:0004795": "Hamartomatous stomach polyps", "HP:0004796": "Gastrointestinal obstruction", "HP:0004797": "Multiple small bowel atresias", "HP:0004798": "Recurrent infection of the gastrointestinal tract", "HP:0004799": "Jejunoileal diverticula", "HP:0004800": "Duodenal diverticula", "HP:0004802": "Episodic hemolytic anemia", "HP:0004804": "Congenital hemolytic anemia", "HP:0004808": "Acute myeloid leukemia", "HP:0004809": "Neonatal alloimmune thrombocytopenia", "HP:0004810": "Congenital hypoplastic anemia", "HP:0004812": "B Acute Lymphoblastic Leukemia", "HP:0004813": "Post-transfusion thrombocytopenia", "HP:0004814": "Fava bean-induced hemolytic anemia", "HP:0004817": "Drug-sensitive hemolytic anemia", "HP:0004818": "Paroxysmal nocturnal hemoglobinuria", "HP:0004819": "Normocytic hypoplastic anemia", "HP:0004820": "Acute myelomonocytic leukemia", "HP:0004821": "Hypersegmentation of neutrophil nuclei", "HP:0004822": "Atypical elliptocytosis", "HP:0004823": "Anisopoikilocytosis", "HP:0004825": "Increased hemoglobin oxygen affinity", "HP:0004826": "Folate-unresponsive megaloblastic anemia", "HP:0004828": "Refractory anemia with ringed sideroblasts", "HP:0004831": "Recurrent thromboembolism", "HP:0004835": "Microspherocytosis", "HP:0004836": "Acute promyelocytic leukemia", "HP:0004839": "Pyropoikilocytosis", "HP:0004840": "Hypochromic microcytic anemia", "HP:0004841": "Reduced factor XII activity", "HP:0004844": "Coombs-positive hemolytic anemia", "HP:0004845": "Acute monocytic leukemia", "HP:0004846": "Prolonged bleeding after surgery", "HP:0004848": "Ph-positive acute lymphoblastic leukemia", "HP:0004850": "Recurrent deep vein thrombosis", "HP:0004851": "Folate-responsive megaloblastic anemia", "HP:0004852": "Reduced leukocyte alkaline phosphatase", "HP:0004854": "Intermittent thrombocytopenia", "HP:0004855": "Reduced protein S activity", "HP:0004856": "Normochromic microcytic anemia", "HP:0004857": "Hyperchromic macrocytic anemia", "HP:0004859": "Amegakaryocytic thrombocytopenia", "HP:0004860": "Thiamine-responsive megaloblastic anemia", "HP:0004861": "Refractory macrocytic anemia", "HP:0004863": "Compensated hemolytic anemia", "HP:0004864": "Refractory sideroblastic anemia", "HP:0004866": "Impaired ADP-induced platelet aggregation", "HP:0004870": "Chronic hemolytic anemia", "HP:0004871": "Perineal fistula", "HP:0004872": "Incisional hernia", "HP:0004875": "Neonatal inspiratory stridor", "HP:0004876": "Spontaneous neonatal pneumothorax", "HP:0004878": "Intercostal muscle weakness", "HP:0004879": "Intermittent hyperventilation", "HP:0004880": "Respiratory infections in early life", "HP:0004881": "Episodic hypoventilation", "HP:0004885": "Episodic respiratory distress", "HP:0004886": "Congenital laryngeal stridor", "HP:0004887": "Respiratory failure requiring assisted ventilation", "HP:0004889": "Intermittent episodes of respiratory insufficiency due to muscle weakness", "HP:0004890": "Elevated pulmonary artery pressure", "HP:0004891": "Recurrent infections due to aspiration", "HP:0004894": "Laryngotracheal stenosis", "HP:0004897": "Stress/infection-induced lactic acidosis", "HP:0004898": "Persistent lactic acidosis", "HP:0004900": "Severe lactic acidosis", "HP:0004901": "Exercise-induced lactic acidemia", "HP:0004902": "Congenital lactic acidosis", "HP:0004904": "Maturity-onset diabetes of the young", "HP:0004905": "Low levels of vitamin A", "HP:0004906": "Hypernatremic dehydration", "HP:0004909": "Hypokalemic hypochloremic metabolic alkalosis", "HP:0004910": "Bicarbonate-wasting renal tubular acidosis", "HP:0004911": "Episodic metabolic acidosis", "HP:0004912": "Hypophosphatemic rickets", "HP:0004913": "Intermittent lactic acidemia", "HP:0004914": "Recurrent infantile hypoglycemia", "HP:0004915": "Impairment of galactose metabolism", "HP:0004916": "Generalized distal tubular acidosis", "HP:0004918": "Hyperchloremic metabolic acidosis", "HP:0004919": "Galactose intolerance", "HP:0004920": "Phenylpyruvic acidemia", "HP:0004921": "Abnormal magnesium concentration", "HP:0004922": "Atypical hyperphenylalaninemia", "HP:0004923": "Hyperphenylalaninemia", "HP:0004924": "Abnormal oral glucose tolerance", "HP:0004925": "Chronic lactic acidosis", "HP:0004926": "Orthostatic hypotension due to autonomic dysfunction", "HP:0004927": "Pulmonary artery dilatation", "HP:0004930": "Abnormality of the pulmonary vasculature", "HP:0004931": "Arteriosclerosis of small cerebral arteries", "HP:0004933": "Ascending aortic dissection", "HP:0004934": "Vascular calcification", "HP:0004935": "Pulmonary artery atresia", "HP:0004936": "Venous thrombosis", "HP:0004937": "Pulmonary artery aneurysm", "HP:0004938": "Tortuous cerebral arteries", "HP:0004940": "Generalized arterial calcification", "HP:0004941": "Extrahepatic portal hypertension", "HP:0004942": "Aortic aneurysm", "HP:0004943": "Accelerated atherosclerosis", "HP:0004944": "Dilatation of the cerebral artery", "HP:0004945": "Extracranial internal carotid artery dissection", "HP:0004947": "Arteriovenous fistula", "HP:0004948": "Vascular tortuosity", "HP:0004950": "Peripheral arterial stenosis", "HP:0004952": "Pulmonary arteriovenous fistulas", "HP:0004955": "Generalized arterial tortuosity", "HP:0004959": "Descending thoracic aorta aneurysm", "HP:0004960": "Absent pulmonary artery", "HP:0004961": "Pulmonary artery sling", "HP:0004962": "Thoracic aorta calcification", "HP:0004963": "Calcification of the aorta", "HP:0004964": "Pulmonary arterial medial hypertrophy", "HP:0004966": "Medial calcification of large arteries", "HP:0004968": "Recurrent cerebral hemorrhage", "HP:0004969": "Peripheral pulmonary artery stenosis", "HP:0004970": "Ascending tubular aorta aneurysm", "HP:0004971": "Pulmonary artery hypoplasia", "HP:0004972": "Elevated mean arterial pressure", "HP:0004974": "Coarctation of abdominal aorta", "HP:0004975": "Erlenmeyer flask deformity of the femurs", "HP:0004976": "Knee dislocation", "HP:0004977": "Bilateral radial aplasia", "HP:0004979": "Metaphyseal sclerosis", "HP:0004980": "Metaphyseal rarefaction", "HP:0004981": "Prominent styloid process of ulna", "HP:0004987": "Mesomelic leg shortening", "HP:0004990": "Epiphyseal streaking", "HP:0004991": "Rhizomelic arm shortening", "HP:0004993": "Slender long bones with narrow diaphyses", "HP:0004997": "Multicentric ossification of proximal humeral epiphyses", "HP:0005001": "Recurrent patellar dislocation", "HP:0005003": "Aplasia/Hypoplasia of the capital femoral epiphysis", "HP:0005004": "Flattened proximal radial epiphyses", "HP:0005005": "Femoral bowing present at birth, straightening with time", "HP:0005008": "Large joint dislocations", "HP:0005009": "Dumbbell-shaped humerus", "HP:0005010": "Osteomyelitis leading to amputation due to slow healing fractures", "HP:0005011": "Mesomelic arm shortening", "HP:0005013": "Dysplastic distal radial epiphyses", "HP:0005017": "Polyarticular chondrocalcinosis", "HP:0005019": "Diaphyseal thickening", "HP:0005021": "Bilateral elbow dislocations", "HP:0005025": "Hypoplastic distal humeri", "HP:0005026": "Mesomelic/rhizomelic limb shortening", "HP:0005028": "Widened proximal tibial metaphyses", "HP:0005033": "Distal ulnar hypoplasia", "HP:0005035": "Shortening of all phalanges of the toes", "HP:0005036": "Unilateral ulnar hypoplasia", "HP:0005037": "Proximal radio-ulnar synostosis", "HP:0005039": "Multiple long-bone exostoses", "HP:0005041": "Irregular capital femoral epiphysis", "HP:0005042": "Irregular, rachitic-like metaphyses", "HP:0005043": "Proximal humeral metaphyseal irregularity", "HP:0005045": "Diaphyseal cortical sclerosis", "HP:0005048": "Synostosis of carpal bones", "HP:0005050": "Anterolateral radial head dislocation", "HP:0005054": "Metaphyseal spurs", "HP:0005059": "Arthralgia/arthritis", "HP:0005060": "Limited elbow flexion/extension", "HP:0005063": "Fragmented, irregular epiphyses", "HP:0005066": "Cone-shaped epiphyses fused within their metaphyses", "HP:0005067": "Proximal fibular overgrowth", "HP:0005068": "Absent styloid process of ulna", "HP:0005069": "Rhizo-meso-acromelic limb shortening", "HP:0005070": "Proximal radial head dislocation", "HP:0005072": "Hyperextensibility at wrists", "HP:0005084": "Anterior radial head dislocation", "HP:0005085": "Limited knee flexion/extension", "HP:0005086": "Knee osteoarthritis", "HP:0005089": "Abnormal metaphyseal trabeculation", "HP:0005090": "Lateral femoral bowing", "HP:0005092": "Streaky metaphyseal sclerosis", "HP:0005093": "Absent proximal radial epiphyses", "HP:0005096": "Distal femoral bowing", "HP:0005100": "Premature birth following premature rupture of fetal membranes", "HP:0005101": "High-frequency hearing impairment", "HP:0005102": "Cochlear degeneration", "HP:0005103": "Calcification of the auricular cartilage", "HP:0005104": "Hypoplastic nasal septum", "HP:0005105": "Abnormal nasal morphology", "HP:0005106": "Abnormality of the vertebral endplates", "HP:0005107": "Abnormal sacrum morphology", "HP:0005108": "Abnormal intervertebral disk morphology", "HP:0005109": "Abnormality of the Achilles tendon", "HP:0005110": "Atrial fibrillation", "HP:0005112": "Abdominal aortic aneurysm", "HP:0005113": "Aortic arch aneurysm", "HP:0005115": "Supraventricular arrhythmia", "HP:0005116": "Arterial tortuosity", "HP:0005117": "Elevated diastolic blood pressure", "HP:0005120": "Abnormal cardiac atrium morphology", "HP:0005121": "Posterior scalloping of vertebral bodies", "HP:0005129": "Congenital hypertrophy of left ventricle", "HP:0005132": "Pericardial constriction", "HP:0005133": "Right ventricular dilatation", "HP:0005134": "Absence of the pulmonary valve", "HP:0005135": "Abnormal T-wave", "HP:0005136": "Mitral annular calcification", "HP:0005143": "Anomalous origin of right pulmonary artery from ascending aorta", "HP:0005144": "Ventricular septal hypertrophy", "HP:0005145": "Coronary artery stenosis", "HP:0005146": "Cardiac valve calcification", "HP:0005147": "Bidirectional ventricular ectopy", "HP:0005148": "Pulmonary valve defects", "HP:0005150": "Abnormal atrioventricular conduction", "HP:0005151": "Preductal coarctation of the aorta", "HP:0005152": "Histiocytoid cardiomyopathy", "HP:0005155": "Ventricular escape rhythm", "HP:0005156": "Hypoplastic left atrium", "HP:0005157": "Concentric hypertrophic cardiomyopathy", "HP:0005160": "Total anomalous pulmonary venous return", "HP:0005162": "Abnormal left ventricular function", "HP:0005164": "Dysplastic pulmonary valve", "HP:0005165": "Shortened PR interval", "HP:0005168": "Elevated right atrial pressure", "HP:0005170": "Complete heart block with broad QRS complexes", "HP:0005172": "Left posterior fascicular block", "HP:0005174": "Membranous subvalvular aortic stenosis", "HP:0005176": "Dysplastic aortic valve", "HP:0005177": "Premature arteriosclerosis", "HP:0005178": "Complete heart block with narrow QRS complexes", "HP:0005180": "Tricuspid regurgitation", "HP:0005181": "Premature coronary artery atherosclerosis", "HP:0005182": "Bicuspid pulmonary valve", "HP:0005183": "Pericardial lymphangiectasia", "HP:0005184": "Prolonged QTc interval", "HP:0005185": "Global systolic dysfunction", "HP:0005186": "Synovial hypertrophy", "HP:0005187": "Progressive joint destruction", "HP:0005190": "Proximal finger joint hyperextensibility", "HP:0005191": "Congenital knee dislocation", "HP:0005193": "Restricted large joint movement", "HP:0005194": "Flattened metatarsal heads", "HP:0005195": "Polyarticular arthropathy", "HP:0005197": "Generalized morning stiffness", "HP:0005198": "Stiff interphalangeal joints", "HP:0005199": "Aplasia of the abdominal wall musculature", "HP:0005200": "Retroperitoneal fibrosis", "HP:0005201": "Anomalous splenoportal venous system", "HP:0005202": "Helicobacter pylori infection", "HP:0005203": "Spontaneous esophageal perforation", "HP:0005206": "Pancreatic pseudocyst", "HP:0005207": "Gastric hypertrophy", "HP:0005208": "Secretory diarrhea", "HP:0005209": "Intrahepatic bile duct cysts", "HP:0005210": "Hypoplastic colon", "HP:0005211": "Midgut malrotation", "HP:0005212": "Anal mucosal leukoplakia", "HP:0005213": "Pancreatic calcification", "HP:0005214": "Intestinal obstruction", "HP:0005215": "Frequent Giardia lamblia infestation", "HP:0005216": "Impaired mastication", "HP:0005217": "Duplication of internal organs", "HP:0005218": "Anoperineal fistula", "HP:0005219": "Absence of intrinsic factor", "HP:0005220": "Multiple intestinal neurofibromatosis", "HP:0005222": "Bowel diverticulosis", "HP:0005223": "Duplicated colon", "HP:0005224": "Rectal abscess", "HP:0005225": "Intestinal edema", "HP:0005227": "Adenomatous colonic polyposis", "HP:0005229": "Jejunoileal ulceration", "HP:0005230": "Biliary tract obstruction", "HP:0005231": "Chronic gastritis", "HP:0005232": "Pancreatic dysplasia", "HP:0005233": "Hypoplasia of the gallbladder", "HP:0005234": "Neonatal intestinal obstruction", "HP:0005235": "Jejunal atresia", "HP:0005236": "Chronic calcifying pancreatitis", "HP:0005237": "Degenerative liver disease", "HP:0005238": "Discrete intestinal polyps", "HP:0005240": "Esophageal obstruction", "HP:0005241": "Total intestinal aganglionosis", "HP:0005242": "Extrahepatic biliary duct atresia", "HP:0005243": "Partial abdominal muscle agenesis", "HP:0005244": "Gastrointestinal infarctions", "HP:0005245": "Intestinal hypoplasia", "HP:0005246": "Giant hypertrophic gastritis", "HP:0005247": "Hypoplasia of the abdominal wall musculature", "HP:0005248": "Intrahepatic biliary atresia", "HP:0005249": "Functional intestinal obstruction", "HP:0005250": "High intestinal obstruction", "HP:0005253": "Increased anterioposterior diameter of thorax", "HP:0005254": "Unilateral chest hypoplasia", "HP:0005255": "Absence of pectoralis minor muscle", "HP:0005256": "Unilateral absence of pectoralis major muscle", "HP:0005257": "Thoracic hypoplasia", "HP:0005258": "Pectoral muscle hypoplasia/aplasia", "HP:0005259": "Abnormal facility in opposing the shoulders", "HP:0005261": "Joint hemorrhage", "HP:0005262": "Abnormality of the synovia", "HP:0005263": "Gastritis", "HP:0005264": "Abnormality of the gallbladder", "HP:0005265": "Abnormal jejunum morphology", "HP:0005266": "Intestinal polyp", "HP:0005267": "Premature delivery because of cervical insufficiency or membrane fragility", "HP:0005268": "Miscarriage", "HP:0005272": "Prominent nasolabial fold", "HP:0005273": "Absent nasal septal cartilage", "HP:0005274": "Prominent nasal tip", "HP:0005275": "Cartilaginous ossification of nose", "HP:0005278": "Hypoplastic nasal tip", "HP:0005280": "Depressed nasal bridge", "HP:0005281": "Hypoplastic nasal bridge", "HP:0005285": "Absent nasal bridge", "HP:0005288": "Abnormal nostril morphology", "HP:0005289": "Abnormality of the nasolabial region", "HP:0005290": "Internal carotid artery hypoplasia", "HP:0005291": "Inflammatory arteriopathy", "HP:0005292": "Intimal thickening in the coronary arteries", "HP:0005293": "Venous insufficiency", "HP:0005294": "Arterial dissection", "HP:0005295": "Pseudocoarctation of the aorta", "HP:0005297": "Premature occlusive vascular stenosis", "HP:0005300": "Nodular inflammatory vasculitis", "HP:0005301": "Persistent left superior vena cava", "HP:0005302": "Carotid artery tortuosity", "HP:0005303": "Aortic arch calcification", "HP:0005304": "Hypoplastic pulmonary veins", "HP:0005305": "Cerebral venous thrombosis", "HP:0005306": "Capillary hemangioma", "HP:0005307": "Postural hypotension with compensatory tachycardia", "HP:0005308": "Pulmonary artery vasoconstriction", "HP:0005310": "Large vessel vasculitis", "HP:0005311": "Agenesis of pulmonary vessels", "HP:0005312": "Pulmonary aterial intimal fibrosis", "HP:0005313": "Arterial fibromuscular dysplasia", "HP:0005314": "Anomalous branches of internal carotid artery", "HP:0005316": "Peripheral pulmonary vessel aplasia", "HP:0005317": "Increased pulmonary vascular resistance", "HP:0005318": "Cerebral vasculitis", "HP:0005320": "Lack of facial subcutaneous fat", "HP:0005321": "Mandibulofacial dysostosis", "HP:0005322": "Prominent nasal septum", "HP:0005323": "Hemifacial hypertrophy", "HP:0005324": "Disturbance of facial expression", "HP:0005325": "Extension of hair growth on temples to lateral eyebrow", "HP:0005326": "Hypoplastic philtrum", "HP:0005327": "Loss of facial expression", "HP:0005328": "Progeroid facial appearance", "HP:0005329": "Fixed facial expression", "HP:0005332": "Recurrent mandibular subluxations", "HP:0005335": "Sleepy facial expression", "HP:0005336": "Forehead hyperpigmentation", "HP:0005338": "Sparse lateral eyebrow", "HP:0005339": "Abnormality of complement system", "HP:0005340": "Spastic/hyperactive bladder", "HP:0005341": "Autonomic bladder dysfunction", "HP:0005343": "Hypoplasia of the bladder", "HP:0005344": "Abnormal carotid artery morphology", "HP:0005345": "Abnormal vena cava morphology", "HP:0005346": "Abnormal facial expression", "HP:0005347": "Tracheal cartilaginous sleeve", "HP:0005348": "Inspiratory stridor", "HP:0005349": "Hypoplasia of the epiglottis", "HP:0005352": "Severe T-cell immunodeficiency", "HP:0005353": "Recurrent herpes", "HP:0005354": "Lack of T cell function", "HP:0005356": "Decreased circulating complement factor I concentration", "HP:0005357": "Defective B cell differentiation", "HP:0005359": "Aplasia of the thymus", "HP:0005360": "Susceptibility to chickenpox", "HP:0005363": "Humoral immunodeficiency", "HP:0005365": "Severe B lymphocytopenia", "HP:0005366": "Recurrent streptococcus pneumoniae infections", "HP:0005368": "Abnormality of humoral immunity", "HP:0005369": "Decreased circulating complement factor H concentration", "HP:0005372": "Abnormality of B cell physiology", "HP:0005374": "Cellular immunodeficiency", "HP:0005376": "Recurrent Haemophilus influenzae infections", "HP:0005381": "Recurrent meningococcal disease", "HP:0005384": "Defective B cell activation", "HP:0005386": "Recurrent protozoan infections", "HP:0005387": "Combined immunodeficiency", "HP:0005389": "Depletion of components of the alternative complement pathway", "HP:0005390": "Recurrent opportunistic infections", "HP:0005396": "Susceptibility to coronavirus 229e", "HP:0005400": "Reduction of neutrophil motility", "HP:0005401": "Recurrent candida infections", "HP:0005403": "T lymphocytopenia", "HP:0005404": "Increased B cell count", "HP:0005406": "Recurrent bacterial skin infections", "HP:0005407": "Decreased proportion of CD4-positive helper T cells", "HP:0005411": "Chronic intestinal candidiasis", "HP:0005413": "Increased alpha-globulin", "HP:0005415": "Decreased proportion of CD8-positive T cells", "HP:0005416": "Decreased circulating complement factor B concentration", "HP:0005419": "Decreased T cell activation", "HP:0005420": "Recurrent gram-negative bacterial infections", "HP:0005421": "Decreased circulating complement C3 concentration", "HP:0005422": "Absence of CD8-positive T cells", "HP:0005423": "Dysfunctional alternative complement pathway", "HP:0005424": "Absent specific antibody response", "HP:0005425": "Recurrent sinopulmonary infections", "HP:0005428": "Severe recurrent varicella", "HP:0005429": "Recurrent systemic pyogenic infections", "HP:0005430": "Recurrent Neisserial infections", "HP:0005432": "Transient hypogammaglobulinemia of infancy", "HP:0005435": "Impaired T cell function", "HP:0005437": "Recurrent infections in infancy and early childhood", "HP:0005439": "Maxillozygomatic hypoplasia", "HP:0005441": "Sclerotic cranial sutures", "HP:0005442": "Widely patent coronal suture", "HP:0005445": "Enlarged posterior fossa", "HP:0005446": "Obtuse angle of mandible", "HP:0005449": "Bridged sella turcica", "HP:0005450": "Calvarial osteosclerosis", "HP:0005451": "Decreased cranial base ossification", "HP:0005453": "Absent/hypoplastic paranasal sinuses", "HP:0005456": "Absent ethmoidal sinuses", "HP:0005458": "Premature closure of fontanelles", "HP:0005461": "Craniofacial disproportion", "HP:0005462": "Calcification of falx cerebri", "HP:0005463": "Elongated sella turcica", "HP:0005464": "Craniofacial osteosclerosis", "HP:0005465": "Facial hyperostosis", "HP:0005466": "Hypoplasia of the frontal bone", "HP:0005469": "Flat occiput", "HP:0005472": "Orbital craniosynostosis", "HP:0005473": "Fusion of middle ear ossicles", "HP:0005474": "Decreased calvarial ossification", "HP:0005476": "Widely patent sagittal suture", "HP:0005477": "Progressive sclerosis of skull base", "HP:0005478": "Prominent frontal sinuses", "HP:0005479": "Decreased circulating IgE", "HP:0005482": "Abnormality of the alternative complement pathway", "HP:0005483": "Abnormal epiglottis morphology", "HP:0005484": "Secondary microcephaly", "HP:0005486": "Small fontanelle", "HP:0005487": "Prominent metopic ridge", "HP:0005490": "Postnatal macrocephaly", "HP:0005494": "Premature posterior fontanelle closure", "HP:0005495": "Metopic suture patent to nasal root", "HP:0005498": "Midline skin dimples over anterior/posterior fontanelles", "HP:0005502": "Increased red cell osmotic fragility", "HP:0005505": "Refractory anemia", "HP:0005506": "Chronic myelogenous leukemia", "HP:0005507": "Hemoglobin Barts", "HP:0005508": "Monoclonal immunoglobulin M proteinemia", "HP:0005510": "Transient erythroblastopenia", "HP:0005511": "Heinz body anemia", "HP:0005512": "Impaired neutrophil killing of staphylococci", "HP:0005513": "Increased megakaryocyte count", "HP:0005517": "T-cell lymphoma/leukemia", "HP:0005518": "Increased mean corpuscular volume", "HP:0005520": "Chronic disseminated intravascular coagulation", "HP:0005521": "Disseminated intravascular coagulation", "HP:0005522": "Pyridoxine-responsive sideroblastic anemia", "HP:0005523": "Lymphoproliferative disorder", "HP:0005524": "Macrocytic hemolytic disease", "HP:0005525": "Spontaneous hemolytic crises", "HP:0005526": "Lymphoid leukemia", "HP:0005527": "Reduced kininogen activity", "HP:0005528": "Bone marrow hypocellularity", "HP:0005531": "Biphenotypic acute leukemia", "HP:0005532": "Macrocytic dyserythropoietic anemia", "HP:0005534": "Transient myeloproliferative syndrome", "HP:0005535": "Exercise-induced hemolysis", "HP:0005537": "Decreased mean platelet volume", "HP:0005539": "T cell chronic lymphocytic lymphoma/leukemia", "HP:0005540": "Red blood cell keratocytosis", "HP:0005541": "Congenital agranulocytosis", "HP:0005542": "Prolonged whole-blood clotting time", "HP:0005543": "Reduced protein C activity", "HP:0005546": "Increased red cell osmotic resistance", "HP:0005547": "Myeloproliferative disorder", "HP:0005548": "Megakaryocytopenia", "HP:0005550": "Chronic lymphatic leukemia", "HP:0005556": "Abnormality of the metopic suture", "HP:0005557": "Abnormal zygomatic arch morphology", "HP:0005558": "Chronic leukemia", "HP:0005559": "Abnormality of the kinin-kallikrein system", "HP:0005560": "Imbalanced hemoglobin synthesis", "HP:0005561": "Abnormality of bone marrow cell morphology", "HP:0005562": "Multiple renal cysts", "HP:0005563": "Decreased numbers of nephrons", "HP:0005564": "Absence of renal corticomedullary differentiation", "HP:0005565": "Reduced renal corticomedullary differentiation", "HP:0005567": "Renal magnesium wasting", "HP:0005571": "Increased renal tubular phosphate reabsorption", "HP:0005572": "Decreased renal tubular phosphate excretion", "HP:0005574": "Non-acidotic proximal tubulopathy", "HP:0005575": "Hemolytic-uremic syndrome", "HP:0005576": "Tubulointerstitial fibrosis", "HP:0005579": "Impaired renal ltubular reabsorption of chloride", "HP:0005580": "Duplication of renal pelvis", "HP:0005583": "Tubular basement membrane disintegration", "HP:0005584": "Renal cell carcinoma", "HP:0005585": "Spotty hyperpigmentation", "HP:0005586": "Hyperpigmentation in sun-exposed areas", "HP:0005587": "Profuse pigmented skin lesions", "HP:0005588": "Patchy palmoplantar hyperkeratosis", "HP:0005590": "Spotty hypopigmentation", "HP:0005592": "Giant melanosomes in melanocytes", "HP:0005593": "Macular hypopigmented whorls, streaks, and patches", "HP:0005595": "Generalized hyperkeratosis", "HP:0005597": "Congenital alopecia totalis", "HP:0005598": "Facial telangiectasia in butterfly midface distribution", "HP:0005599": "Hypopigmentation of hair", "HP:0005600": "Congenital giant melanocytic nevus", "HP:0005602": "Progressive vitiligo", "HP:0005603": "Numerous congenital melanocytic nevi", "HP:0005605": "Large cafe-au-lait macules with irregular margins", "HP:0005606": "Hyperpigmented nevi and streak", "HP:0005607": "Abnormal tracheobronchial morphology", "HP:0005608": "Bilobate gallbladder", "HP:0005609": "Gallbladder dysfunction", "HP:0005612": "Arthrogryposis-like hand anomaly", "HP:0005613": "Aplasia/hypoplasia of the femur", "HP:0005616": "Accelerated skeletal maturation", "HP:0005617": "Bilateral camptodactyly", "HP:0005619": "Thoracolumbar kyphosis", "HP:0005620": "Hypermobility of interphalangeal joints", "HP:0005621": "Trapezoidal vertebral body", "HP:0005622": "Broad long bones", "HP:0005623": "Absent ossification of calvaria", "HP:0005625": "Osteoporosis of vertebrae", "HP:0005626": "Posterior fusion of lumbosacral vertebrae", "HP:0005627": "Type D brachydactyly", "HP:0005632": "Absent forearm", "HP:0005638": "Decreased anterioposterior diameter of lumbar vertebral bodies", "HP:0005639": "Hyperextensible hand joints", "HP:0005640": "Abnormal vertebral segmentation and fusion", "HP:0005643": "Short 3rd toe", "HP:0005645": "Intervertebral disk calcification", "HP:0005648": "Bilateral ulnar hypoplasia", "HP:0005650": "2-5 finger cutaneous syndactyly", "HP:0005652": "Cortical sclerosis", "HP:0005653": "Moderate generalized osteoporosis", "HP:0005655": "Multiple digital exostoses", "HP:0005656": "Positional foot deformity", "HP:0005659": "Thoracic kyphoscoliosis", "HP:0005661": "Salmonella osteomyelitis", "HP:0005665": "Massively thickened long bone cortices", "HP:0005667": "Os odontoideum", "HP:0005671": "Bilateral intracerebral calcifications", "HP:0005676": "Rudimentary postaxial polydactyly of hands", "HP:0005678": "Anterior atlanto-occipital dislocation", "HP:0005679": "Dupuytren contracture", "HP:0005680": "Tongue-like lumbar vertebral deformities", "HP:0005681": "Juvenile rheumatoid arthritis", "HP:0005682": "Talocalcaneal synostosis", "HP:0005684": "Distal arthrogryposis", "HP:0005686": "Patchy osteosclerosis", "HP:0005687": "Deformed humeral heads", "HP:0005688": "Dysplastic distal thumb phalanges with a central hole", "HP:0005689": "Dermatoglyphic ridges abnormal", "HP:0005692": "Joint hyperflexibility", "HP:0005694": "Partial fusion of proximal row of carpal bones", "HP:0005696": "Postaxial polydactyly type A", "HP:0005700": "Increased bone density with cystic changes", "HP:0005701": "Multiple enchondromatosis", "HP:0005707": "Bilateral triphalangeal thumbs", "HP:0005709": "2-3 toe cutaneous syndactyly", "HP:0005715": "Flattened knee epiphyses", "HP:0005716": "Lethal skeletal dysplasia", "HP:0005720": "Shortening of all metacarpals", "HP:0005722": "Hyperextensible thumb", "HP:0005723": "Shoe-shaped sella turcica", "HP:0005725": "Nonopposable triphalangeal thumb", "HP:0005726": "Thumbs hypoplastic with bulbous tips", "HP:0005731": "Cortical irregularity", "HP:0005733": "Spinal stenosis with reduced interpedicular distance", "HP:0005736": "Short tibia", "HP:0005739": "Posterior subluxation of radial head", "HP:0005743": "Avascular necrosis of the capital femoral epiphysis", "HP:0005745": "Congenital foot contractures", "HP:0005746": "Osteosclerosis of the base of the skull", "HP:0005747": "Easily subluxated first metacarpophalangeal joints", "HP:0005750": "Lower-limb joint contracture", "HP:0005752": "Flattened moderately deformed vertebrae", "HP:0005756": "Neonatal epiphyseal stippling", "HP:0005758": "Basilar impression", "HP:0005759": "Small flat posterior fossa", "HP:0005764": "Polyarticular arthritis", "HP:0005765": "Sacral meningocele", "HP:0005766": "Disproportionate shortening of the tibia", "HP:0005767": "1-2 toe complete cutaneous syndactyly", "HP:0005768": "2-4 toe cutaneous syndactyly", "HP:0005769": "Fifth finger distal phalanx clinodactyly", "HP:0005772": "Aplasia/Hypoplasia of the tibia", "HP:0005773": "Short forearm", "HP:0005775": "Multiple skeletal anomalies", "HP:0005776": "Carpal bone malsegmentation", "HP:0005780": "Absent fourth finger distal interphalangeal crease", "HP:0005781": "Contractures of the large joints", "HP:0005787": "Lumbar platyspondyly", "HP:0005788": "Abnormal cervical myelogram", "HP:0005789": "Generalized osteosclerosis", "HP:0005790": "Short mandibular condyles", "HP:0005791": "Cortical thickening of long bone diaphyses", "HP:0005792": "Short humerus", "HP:0005793": "Shortening of all distal phalanges of the toes", "HP:0005798": "Posterior radial head dislocation", "HP:0005802": "Coalescence of tarsal bones", "HP:0005807": "Absent distal phalanges", "HP:0005815": "Supernumerary ribs", "HP:0005817": "Postaxial polysyndactyly of foot", "HP:0005819": "Short middle phalanx of finger", "HP:0005820": "Superior rib anomalies", "HP:0005824": "Clinodactyly of the 2nd toe", "HP:0005825": "Mixed sclerosis of humeral metaphyses", "HP:0005828": "Transient pulmonary infiltrates", "HP:0005829": "Maldevelopment of radioulnar joint", "HP:0005830": "Flexion contracture of toe", "HP:0005831": "Type B brachydactyly", "HP:0005832": "Dysharmonic delayed bone age", "HP:0005841": "Calcific stippling of infantile cartilaginous skeleton", "HP:0005844": "Rounded middle phalanx of finger", "HP:0005849": "Diffuse cerebral calcification", "HP:0005850": "Congenital talipes calcaneovalgus", "HP:0005852": "Limited elbow extension and supination", "HP:0005853": "Congenital foot contraction deformities", "HP:0005855": "Multiple prenatal fractures", "HP:0005856": "Ulnar radial head dislocation", "HP:0005857": "Cervical spina bifida", "HP:0005863": "Type E brachydactyly", "HP:0005864": "Pseudoarthrosis", "HP:0005866": "Opposable triphalangeal thumb", "HP:0005867": "4-5 metacarpal synostosis", "HP:0005868": "Metaphyseal enchondromatosis", "HP:0005871": "Metaphyseal chondrodysplasia", "HP:0005872": "Brachytelomesophalangy", "HP:0005873": "Polysyndactyly of hallux", "HP:0005875": "Increased dermatoglyphic whorls", "HP:0005876": "Progressive flexion contractures", "HP:0005877": "Multiple small vertebral fractures", "HP:0005878": "Enlarged sagittal diameter of the cervical canal", "HP:0005879": "Congenital finger flexion contractures", "HP:0005880": "Metacarpophalangeal synostosis", "HP:0005881": "Spinal instability", "HP:0005882": "Dermatoglyphic variants", "HP:0005885": "Absent ossification of cervical vertebral bodies", "HP:0005886": "Aphalangy of the hands", "HP:0005890": "Hyperostosis cranialis interna", "HP:0005891": "Progressive forearm bowing", "HP:0005892": "Proximal tibial and fibular fusion", "HP:0005894": "Double first metacarpals", "HP:0005895": "Radial deviation of thumb terminal phalanx", "HP:0005897": "Severe generalized osteoporosis", "HP:0005900": "Fifth metacarpal with ulnar notch", "HP:0005905": "Abnormal cervical curvature", "HP:0005906": "Delayed pneumatization of the mastoid process", "HP:0005910": "Rhomboid or triangular shaped 5th finger middle phalanx", "HP:0005912": "Biliary atresia", "HP:0005913": "Abnormal metacarpal epiphysis morphology", "HP:0005914": "Aplasia/Hypoplasia involving the metacarpal bones", "HP:0005916": "Abnormal metacarpal morphology", "HP:0005917": "Supernumerary metacarpal bones", "HP:0005918": "Abnormal finger phalanx morphology", "HP:0005920": "Abnormal epiphysis morphology of the phalanges of the hand", "HP:0005922": "Abnormal hand morphology", "HP:0005923": "Abnormal hand metaphysis morphology", "HP:0005924": "Abnormal hand epiphysis morphology", "HP:0005925": "Abnormal hand diaphysis morphology", "HP:0005926": "Abnormal hand cortical bone morphology", "HP:0005927": "Aplasia/hypoplasia involving bones of the hand", "HP:0005928": "Synostosis involving the fibula", "HP:0005929": "Synostosis involving the tibia", "HP:0005930": "Abnormal epiphysis morphology", "HP:0005932": "Abnormal renal corticomedullary differentiation", "HP:0005934": "Imperfect vocal cord adduction", "HP:0005938": "Abnormal respiratory motile cilium morphology", "HP:0005939": "Multiple bilateral pneumothoraces", "HP:0005941": "Intermittent hyperpnea at rest", "HP:0005942": "Desquamative interstitial pneumonitis", "HP:0005943": "Respiratory arrest", "HP:0005944": "Bilateral lung agenesis", "HP:0005945": "Laryngeal obstruction", "HP:0005946": "Ventilator dependence with inability to wean", "HP:0005947": "Decreased sensitivity to hypoxemia", "HP:0005948": "Multiple pulmonary cysts", "HP:0005949": "Apneic episodes in infancy", "HP:0005950": "Laryngeal web", "HP:0005951": "Progressive inspiratory stridor", "HP:0005954": "Pulmonary capillary hemangiomatosis", "HP:0005956": "Anteroposteriorly shortened larynx", "HP:0005957": "Breathing dysregulation", "HP:0005959": "Impaired gluconeogenesis", "HP:0005961": "Hypoargininemia", "HP:0005964": "Intermittent hypothermia", "HP:0005967": "Mixed respiratory and metabolic acidosis", "HP:0005968": "Temperature instability", "HP:0005972": "Respiratory acidosis", "HP:0005973": "Fructose intolerance", "HP:0005974": "Episodic ketoacidosis", "HP:0005976": "Hyperkalemic metabolic acidosis", "HP:0005977": "Hypochloremic metabolic alkalosis", "HP:0005978": "Type II diabetes mellitus", "HP:0005979": "Metabolic ketoacidosis", "HP:0005982": "Reduced phenylalanine hydroxylase level", "HP:0005984": "Elevated maternal serum alpha-fetoprotein", "HP:0005986": "Limitation of neck motion", "HP:0005987": "Multinodular goiter", "HP:0005988": "Congenital muscular torticollis", "HP:0005989": "Redundant neck skin", "HP:0005990": "Thyroid hypoplasia", "HP:0005991": "Limited neck flexion", "HP:0005994": "Nodular goiter", "HP:0005995": "Decreased adipose tissue around neck", "HP:0005997": "Neck joint contracture", "HP:0005999": "Ureteral atresia", "HP:0006000": "Ureteral obstruction", "HP:0006006": "Hypotrophy of the small hand muscles", "HP:0006008": "Unilateral brachydactyly", "HP:0006009": "Broad phalanx", "HP:0006011": "Cuboidal metacarpal", "HP:0006012": "Widened metacarpal shaft", "HP:0006014": "Abnormally shaped carpal bones", "HP:0006016": "Delayed phalangeal epiphyseal ossification", "HP:0006019": "Reduced proximal interphalangeal joint space", "HP:0006026": "Rounded epiphyses", "HP:0006028": "Metaphyseal cupping of metacarpals", "HP:0006035": "Cone-shaped epiphyses of phalanges 2 to 5", "HP:0006040": "Long second metacarpal", "HP:0006042": "Y-shaped metacarpals", "HP:0006045": "Short pointed phalanges", "HP:0006048": "Distal widening of metacarpals", "HP:0006051": "Metacarpal periosteal thickening", "HP:0006055": "Ulnar deviated club hands", "HP:0006059": "Cone-shaped metacarpal epiphyses", "HP:0006060": "Tombstone-shaped proximal phalanges", "HP:0006064": "Limited interphalangeal movement", "HP:0006067": "Multiple carpal ossification centers", "HP:0006070": "Metacarpophalangeal joint contracture", "HP:0006077": "Absent proximal finger flexion creases", "HP:0006086": "Thin metacarpal cortices", "HP:0006088": "1-5 finger complete cutaneous syndactyly", "HP:0006089": "Palmar hyperhidrosis", "HP:0006092": "Malaligned carpal bone", "HP:0006094": "Finger joint hypermobility", "HP:0006095": "Wide tufts of distal phalanges", "HP:0006097": "3-4 finger syndactyly", "HP:0006099": "Metacarpophalangeal joint hyperextensibility", "HP:0006101": "Finger syndactyly", "HP:0006106": "Absent trapezoid bone", "HP:0006107": "Fingerpad telangiectases", "HP:0006108": "Tapered metacarpals", "HP:0006109": "Absent phalangeal crease", "HP:0006110": "Shortening of all middle phalanges of the fingers", "HP:0006112": "Expanded phalanges with widened medullary cavities", "HP:0006114": "Multiple palmar creases", "HP:0006118": "Shortening of all distal phalanges of the fingers", "HP:0006119": "Proximal tapering of metacarpals", "HP:0006121": "Acral ulceration", "HP:0006127": "Long proximal phalanx of finger", "HP:0006129": "Drumstick terminal phalanges", "HP:0006134": "Enlarged metacarpal epiphyses", "HP:0006135": "Decreased finger mobility", "HP:0006136": "Bilateral postaxial polydactyly", "HP:0006140": "Premature fusion of phalangeal epiphyses", "HP:0006143": "Abnormal finger flexion crease", "HP:0006144": "Shortening of all proximal phalanges of the fingers", "HP:0006145": "Central Y-shaped metacarpal", "HP:0006146": "Broad metacarpal epiphyses", "HP:0006147": "Progressive fusion 2nd-5th pip joints", "HP:0006149": "Increased laxity of fingers", "HP:0006150": "Swan neck-like deformities of the fingers", "HP:0006152": "Proximal symphalangism of hands", "HP:0006153": "Disharmonious carpal bone", "HP:0006155": "Long phalanx of finger", "HP:0006156": "Ulnar deviation of thumb", "HP:0006157": "Prominent palmar flexion creases", "HP:0006159": "Mesoaxial hand polydactyly", "HP:0006160": "Irregular metacarpals", "HP:0006161": "Short metacarpals with rounded proximal ends", "HP:0006162": "Soft tissue swelling of interphalangeal joints", "HP:0006163": "Enlarged metacarpophalangeal joints", "HP:0006165": "Proportionate shortening of all digits", "HP:0006166": "Tubular metacarpal bones", "HP:0006167": "Prominent proximal interphalangeal joints", "HP:0006169": "Decreased mobility 3rd-5th fingers", "HP:0006170": "Chess-pawn distal phalanges", "HP:0006172": "Flattened, squared-off epiphyses of tubular bones", "HP:0006174": "Metacarpal diaphyseal endosteal sclerosis", "HP:0006175": "Proximal phalangeal periosteal thickening", "HP:0006176": "Two carpal ossification centers present at birth", "HP:0006179": "Pseudoepiphyses of second metacarpal", "HP:0006180": "Crowded carpal bones", "HP:0006184": "Decreased palmar creases", "HP:0006185": "Enlarged proximal interphalangeal joints", "HP:0006189": "Prominent interdigital folds", "HP:0006190": "Radially deviated wrists", "HP:0006191": "Deep palmar crease", "HP:0006192": "Tapered phalanx of finger", "HP:0006193": "Thimble-shaped middle phalanges of hand", "HP:0006200": "Widened distal phalanges", "HP:0006201": "Hypermobility of distal interphalangeal joints", "HP:0006202": "Osteolysis of scaphoids", "HP:0006203": "Decreased movement range in interphalangeal joints", "HP:0006205": "Irregular phalanges", "HP:0006206": "Hypersegmentation of proximal phalanx of second finger", "HP:0006207": "Partial fusion of carpals", "HP:0006208": "Metaphyseal cupping of proximal phalanges", "HP:0006209": "Partial-complete absence of 5th phalanges", "HP:0006210": "Postaxial oligodactyly", "HP:0006213": "Thin proximal phalanges with broad epiphyses of the hand", "HP:0006216": "Single interphalangeal crease of fifth finger", "HP:0006217": "Limited mobility of proximal interphalangeal joint", "HP:0006224": "Tapering pointed ends of distal finger phalanges", "HP:0006226": "Osteoarthritis of the first carpometacarpal joint", "HP:0006228": "Valgus hand deformity", "HP:0006230": "Unilateral oligodactyly", "HP:0006232": "Expanded metacarpals with widened medullary cavities", "HP:0006233": "Osteoarthritis of the distal interphalangeal joint", "HP:0006234": "Osteolysis involving tarsal bones", "HP:0006236": "Slender metacarpals", "HP:0006237": "Prominent interphalangeal joints", "HP:0006239": "Shortening of all middle phalanges of the toes", "HP:0006243": "Phalangeal dislocation", "HP:0006247": "Enlarged interphalangeal joints", "HP:0006248": "Limited wrist movement", "HP:0006251": "Limited wrist extension", "HP:0006252": "Interphalangeal joint erosions", "HP:0006253": "Swelling of proximal interphalangeal joints", "HP:0006254": "Elevated circulating alpha-fetoprotein concentration", "HP:0006256": "Abnormality of hand joint mobility", "HP:0006257": "Abnormality of carpal bone ossification", "HP:0006261": "Abnormal phalangeal joint morphology of the hand", "HP:0006262": "Aplasia/Hypoplasia of the 5th finger", "HP:0006263": "Abnormality of the epiphyses of the 2nd finger", "HP:0006264": "Aplasia/Hypoplasia of the 2nd finger", "HP:0006265": "Aplasia/Hypoplasia of fingers", "HP:0006266": "Small placenta", "HP:0006267": "Large placenta", "HP:0006268": "Fluctuating splenomegaly", "HP:0006270": "Hypoplastic spleen", "HP:0006273": "Pancreatic lymphangiectasis", "HP:0006274": "Reduced pancreatic beta cells", "HP:0006276": "Hyperechogenic pancreas", "HP:0006277": "Pancreatic hyperplasia", "HP:0006278": "Ectopic pancreatic tissue", "HP:0006279": "Beta-cell dysfunction", "HP:0006280": "Chronic pancreatitis", "HP:0006282": "Generalized hypoplasia of dental enamel", "HP:0006283": "Multiple unerupted teeth", "HP:0006285": "Enamel hypomineralization", "HP:0006286": "Yellow-brown discoloration of the teeth", "HP:0006288": "Advanced eruption of teeth", "HP:0006289": "Agenesis of central incisor", "HP:0006290": "Discolored lateral incisors", "HP:0006291": "Marked delay in eruption of permanent teeth", "HP:0006292": "Abnormality of dental eruption", "HP:0006293": "Agenesis of maxillary central incisor", "HP:0006297": "Enamel hypoplasia", "HP:0006298": "Prolonged bleeding after dental extraction", "HP:0006302": "Dagger-shaped pulp calcifications", "HP:0006304": "Widely-spaced incisors", "HP:0006308": "Atrophy of alveolar ridges", "HP:0006311": "Generalized microdontia", "HP:0006313": "Widely spaced primary teeth", "HP:0006315": "Solitary median maxillary central incisor", "HP:0006316": "Irregularly spaced teeth", "HP:0006321": "Multiple non-erupting secondary teeth", "HP:0006323": "Premature loss of primary teeth", "HP:0006326": "Buried teeth encased in mucopolysaccharide", "HP:0006329": "Alveolar process hypoplasia", "HP:0006330": "Rotated maxillary central incisors", "HP:0006332": "Supernumerary maxillary incisor", "HP:0006333": "Crowded maxillary incisors", "HP:0006334": "Hypoplasia of the primary teeth", "HP:0006335": "Persistence of primary teeth", "HP:0006336": "Short dental root", "HP:0006337": "Premature eruption of permanent teeth", "HP:0006338": "Malformation of mandibular premolar", "HP:0006339": "Conical mandibular incisor", "HP:0006342": "Peg-shaped maxillary lateral incisors", "HP:0006344": "Abnormality of primary molar morphology", "HP:0006346": "Screwdriver-shaped incisors", "HP:0006347": "Microdontia of primary teeth", "HP:0006349": "Agenesis of permanent teeth", "HP:0006350": "Pulp obliteration", "HP:0006352": "Failure of eruption of permanent teeth", "HP:0006353": "Hypoplasia of the tooth germ", "HP:0006355": "Agenesis of mandibular central incisor", "HP:0006357": "Premature loss of permanent teeth", "HP:0006358": "Shovel-shaped maxillary central incisors", "HP:0006361": "Irregular femoral epiphysis", "HP:0006362": "Varus deformity of humeral neck", "HP:0006366": "Adductor longus contractures", "HP:0006367": "Crumpled long bones", "HP:0006368": "Forearm reduction defects", "HP:0006369": "Irregular patellae", "HP:0006370": "Distal ulnar epiphyseal stippling", "HP:0006371": "Broad long bone diaphyses", "HP:0006375": "Dumbbell-shaped femur", "HP:0006376": "Limited elbow flexion", "HP:0006378": "Osteolysis of patellae", "HP:0006379": "Proximal tibial hypoplasia", "HP:0006380": "Knee flexion contracture", "HP:0006381": "Rudimentary fibula", "HP:0006383": "Progressive bowing of long bones", "HP:0006384": "Club-shaped distal femur", "HP:0006385": "Short lower limbs", "HP:0006386": "Hypoplastic distal radial epiphyses", "HP:0006387": "Wide distal femoral metaphysis", "HP:0006389": "Limited knee flexion", "HP:0006390": "Anterior tibial bowing", "HP:0006391": "Overtubulated long bones", "HP:0006392": "Increased density of long bones", "HP:0006394": "Limited pronation/supination of forearm", "HP:0006397": "Lateral displacement of patellae", "HP:0006398": "Flat distal femoral epiphysis", "HP:0006400": "Absent knee epiphyses", "HP:0006402": "Distal shortening of limbs", "HP:0006406": "Club-shaped proximal femur", "HP:0006407": "Irregular distal femoral epiphysis", "HP:0006408": "Distal tapering femur", "HP:0006409": "Progressive leg bowing", "HP:0006413": "Broad tibial metaphyses", "HP:0006414": "Distal tibial bowing", "HP:0006415": "Cortically dense long tubular bones", "HP:0006417": "Broad femoral metaphyses", "HP:0006420": "Asymmetric radial dysplasia", "HP:0006423": "Peg-like central prominence of distal tibial metaphyses", "HP:0006424": "Elongated radius", "HP:0006426": "Rudimentary to absent tibiae", "HP:0006429": "Broad femoral neck", "HP:0006431": "Proximal femoral metaphyseal abnormality", "HP:0006432": "Trapezoidal distal femoral condyles", "HP:0006433": "Radial dysplasia", "HP:0006434": "Hypoplasia of proximal radius", "HP:0006437": "Disproportionate prominence of the femoral medial condyle", "HP:0006438": "Enlargement of the distal femoral epiphysis", "HP:0006439": "Radioulnar dislocation", "HP:0006440": "Increased density of long bone diaphyses", "HP:0006441": "Lateral humeral condyle aplasia", "HP:0006442": "Hypoplasia of proximal fibula", "HP:0006443": "Patellar aplasia", "HP:0006446": "Dysplastic patella", "HP:0006449": "Distal radial epiphyseal osteolysis", "HP:0006450": "Multicentric ossification of proximal femoral epiphyses", "HP:0006453": "Lateral displacement of the femoral head", "HP:0006454": "Delayed patellar ossification", "HP:0006456": "Irregular proximal tibial epiphyses", "HP:0006459": "Dorsal subluxation of ulna", "HP:0006460": "Increased laxity of ankles", "HP:0006461": "Proximal femoral epiphysiolysis", "HP:0006462": "Generalized bone demineralization", "HP:0006463": "Rickets of the lower limbs", "HP:0006465": "Periosteal thickening of long tubular bones", "HP:0006466": "Ankle flexion contracture", "HP:0006467": "Limited shoulder movement", "HP:0006470": "Thin long bone diaphyses", "HP:0006471": "Fixed elbow flexion", "HP:0006473": "Anterior bowing of long bones", "HP:0006476": "Abnormality of the pancreatic islet cells", "HP:0006477": "Abnormality of the alveolar ridges", "HP:0006479": "Abnormal dental pulp morphology", "HP:0006480": "Premature loss of teeth", "HP:0006481": "Abnormality of primary teeth", "HP:0006482": "Abnormality of dental morphology", "HP:0006483": "Abnormal number of teeth", "HP:0006485": "Agenesis of incisor", "HP:0006486": "Abnormal dental root morphology", "HP:0006487": "Bowing of the long bones", "HP:0006488": "Bowing of the arm", "HP:0006489": "Abnormal femoral metaphysis morphology", "HP:0006490": "Abnormal lower-limb metaphysis morphology", "HP:0006491": "Abnormal tibial metaphysis morphology", "HP:0006492": "Aplasia/Hypoplasia of the fibula", "HP:0006493": "Aplasia/hypoplasia involving bones of the lower limbs", "HP:0006494": "Aplasia/Hypoplasia involving bones of the feet", "HP:0006495": "Aplasia/Hypoplasia of the ulna", "HP:0006496": "Aplasia/hypoplasia involving bones of the upper limbs", "HP:0006498": "Aplasia/Hypoplasia of the patella", "HP:0006499": "Abnormal femoral epiphysis morphology", "HP:0006500": "Abnormality of lower limb epiphysis morphology", "HP:0006501": "Aplasia/Hypoplasia of the radius", "HP:0006502": "Aplasia/Hypoplasia involving the carpal bones", "HP:0006503": "Aplasia/hypoplasia involving forearm bones", "HP:0006505": "Abnormal limb epiphysis morphology", "HP:0006507": "Aplasia/hypoplasia of the humerus", "HP:0006508": "Abnormality of tibial epiphyses", "HP:0006509": "Diverticulosis of trachea", "HP:0006510": "Chronic pulmonary obstruction", "HP:0006511": "Laryngeal stridor", "HP:0006514": "Intraalveolar nodular calcifications", "HP:0006515": "Interstitial pneumonitis", "HP:0006516": "Hypersensitivity pneumonitis", "HP:0006517": "Intraalveolar phospholipid accumulation", "HP:0006518": "Pulmonary venous occlusion", "HP:0006519": "Alveolar cell carcinoma", "HP:0006520": "Progressive pulmonary function impairment", "HP:0006521": "Pulmonary lymphangiectasia", "HP:0006522": "Repeated pneumothoraces", "HP:0006524": "Tracheobronchial leiomyomatosis", "HP:0006527": "Lymphocytic interstitial pneumonia", "HP:0006528": "Chronic lung disease", "HP:0006529": "Abnormal pulmonary lymphatics", "HP:0006530": "Abnormal pulmonary interstitial morphology", "HP:0006531": "Pleural lymphangiectasia", "HP:0006532": "Recurrent pneumonia", "HP:0006533": "Bronchodysplasia", "HP:0006535": "Recurrent intrapulmonary hemorrhage", "HP:0006536": "Airway obstruction", "HP:0006538": "Recurrent bronchopulmonary infections", "HP:0006539": "Bronchial cartilage hypoplasia", "HP:0006543": "Cardiorespiratory arrest", "HP:0006544": "Extrapulmonary sequestrum", "HP:0006548": "Pulmonary arteriovenous malformation", "HP:0006549": "Unilateral primary pulmonary dysgenesis", "HP:0006552": "Fibrocystic lung disease", "HP:0006554": "Acute hepatic failure", "HP:0006555": "Diffuse hepatic steatosis", "HP:0006557": "Polycystic liver disease", "HP:0006558": "Decreased mitochondrial complex III activity in liver tissue", "HP:0006559": "Hepatic calcification", "HP:0006560": "Biliary hyperplasia", "HP:0006561": "Lipid accumulation in hepatocytes", "HP:0006562": "Viral hepatitis", "HP:0006563": "Malformation of the hepatic ductal plate", "HP:0006564": "Fluctuating hepatomegaly", "HP:0006565": "Increased hepatocellular lipid droplets", "HP:0006566": "Neonatal cholestatic liver disease", "HP:0006568": "Increased hepatic glycogen content", "HP:0006571": "Reduced number of intrahepatic bile ducts", "HP:0006572": "Subacute progressive viral hepatitis", "HP:0006573": "Acute hepatic steatosis", "HP:0006574": "Hepatic arteriovenous malformation", "HP:0006575": "Intrahepatic cholestasis with episodic jaundice", "HP:0006576": "Hepatic vascular malformations", "HP:0006577": "Macronodular cirrhosis", "HP:0006579": "Prolonged neonatal jaundice", "HP:0006580": "Portal fibrosis", "HP:0006581": "Depletion of mitochondrial DNA in liver", "HP:0006582": "Reye syndrome-like episodes", "HP:0006583": "Fatal liver failure in infancy", "HP:0006584": "Small abnormally formed scapulae", "HP:0006585": "Congenital pseudoarthrosis of the clavicle", "HP:0006587": "Straight clavicles", "HP:0006589": "Flaring of lower rib cage", "HP:0006590": "Premature sternal synostosis", "HP:0006591": "Absent glenoid fossa", "HP:0006593": "Anomalous rib insertion to vertebrae", "HP:0006595": "Scapulohumeral synostosis", "HP:0006596": "Restricted chest movement", "HP:0006597": "Diaphragmatic paralysis", "HP:0006598": "Irregular ossification at anterior rib ends", "HP:0006599": "Medial widening of clavicles", "HP:0006600": "Progressive calcification of costochondral cartilage", "HP:0006603": "Flared, irregular rib ends", "HP:0006606": "Irregular chondrocostal junctions", "HP:0006607": "Precocious costochondral ossification", "HP:0006608": "Midclavicular hypoplasia", "HP:0006610": "Wide intermamillary distance", "HP:0006611": "Decreased number of sternal ossification centers", "HP:0006615": "Absent in utero rib ossification", "HP:0006619": "Anterior rib punctate calcifications", "HP:0006623": "Costochondral joint sclerosis", "HP:0006625": "Multifocal breast carcinoma", "HP:0006628": "Absent sternal ossification", "HP:0006631": "Hypoplastic distal segments of scapulae", "HP:0006633": "Glenoid fossa hypoplasia", "HP:0006634": "Osteosclerosis of ribs", "HP:0006637": "Sternal punctate calcifications", "HP:0006638": "Midclavicular aplasia", "HP:0006640": "Multiple rib fractures", "HP:0006641": "Prominent floating ribs", "HP:0006642": "Large sternal ossification centers", "HP:0006643": "Fused sternal ossification centers", "HP:0006644": "Thoracic dysplasia", "HP:0006645": "Thin clavicles", "HP:0006646": "Costal cartilage calcification", "HP:0006647": "Congenital microthorax", "HP:0006649": "Costochondral pain", "HP:0006650": "Thickening of the lateral border of the scapula", "HP:0006655": "Rib segmentation abnormalities", "HP:0006657": "Hypoplasia of first ribs", "HP:0006659": "Internally rotated shoulders", "HP:0006660": "Aplastic clavicle", "HP:0006665": "Coat hanger sign of ribs", "HP:0006668": "Twelfth rib hypoplasia", "HP:0006670": "Impaired myocardial contractility", "HP:0006671": "Paroxysmal atrial tachycardia", "HP:0006673": "Reduced systolic function", "HP:0006677": "Prolonged QRS complex", "HP:0006679": "Granulomatous coronary arteritis", "HP:0006681": "Absent atrioventricular node", "HP:0006682": "Premature ventricular contraction", "HP:0006683": "Abnormal ventricular filling", "HP:0006684": "Ventricular preexcitation with multiple accessory pathways", "HP:0006685": "Endocardial fibrosis", "HP:0006687": "Aortic tortuosity", "HP:0006688": "Paroxysmal tachycardia", "HP:0006689": "Bacterial endocarditis", "HP:0006690": "Myocardial calcification", "HP:0006691": "Pulmonic valve myxoma", "HP:0006692": "Short chordae tendineae of the tricuspid valve", "HP:0006693": "Myocardial steatosis", "HP:0006694": "Early progressive calcific cardiac valvular disease", "HP:0006695": "Atrioventricular canal defect", "HP:0006696": "Polymorphic and polytopic ventricular extrasystoles", "HP:0006698": "Dilatation of the ventricular cavity", "HP:0006699": "Premature atrial contractions", "HP:0006702": "Coronary artery dissection", "HP:0006703": "Aplasia/Hypoplasia of the lungs", "HP:0006704": "Abnormal coronary artery morphology", "HP:0006705": "Abnormal atrioventricular valve morphology", "HP:0006706": "Cystic liver disease", "HP:0006707": "Abnormality of the hepatic vasculature", "HP:0006709": "Aplasia/Hypoplasia of the nipples", "HP:0006710": "Aplasia/Hypoplasia of the clavicles", "HP:0006711": "Aplasia/Hypoplasia involving bones of the thorax", "HP:0006712": "Aplasia/Hypoplasia of the ribs", "HP:0006713": "Aplasia/Hypoplasia of the scapulae", "HP:0006714": "Aplasia/Hypoplasia of the sternum", "HP:0006715": "Glomus tympanicum paraganglioma", "HP:0006716": "Hereditary nonpolyposis colorectal carcinoma", "HP:0006717": "Peripheral neuroepithelioma", "HP:0006719": "Benign gastrointestinal tract tumors", "HP:0006721": "Acute lymphoblastic leukemia", "HP:0006722": "Small intestine carcinoid", "HP:0006723": "Intestinal carcinoid", "HP:0006725": "Pancreatic adenocarcinoma", "HP:0006727": "T-cell acute lymphoblastic leukemias", "HP:0006729": "Retroperitoneal chemodectomas", "HP:0006731": "Follicular thyroid carcinoma", "HP:0006732": "Papillary renal cell carcinoma type 2", "HP:0006733": "Acute megakaryocytic leukemia", "HP:0006735": "Renal cortical adenoma", "HP:0006737": "Extraadrenal pheochromocytoma", "HP:0006739": "Squamous cell carcinoma of the skin", "HP:0006740": "Transitional cell carcinoma of the bladder", "HP:0006742": "Congenital neuroblastoma", "HP:0006743": "Embryonal rhabdomyosarcoma", "HP:0006744": "Adrenocortical carcinoma", "HP:0006747": "Ganglioneuroblastoma", "HP:0006748": "Adrenal pheochromocytoma", "HP:0006749": "Malignant gastrointestinal tract tumors", "HP:0006751": "Paraspinal neurofibroma", "HP:0006753": "Neoplasm of the stomach", "HP:0006755": "Cutaneous leiomyosarcoma", "HP:0006756": "Diffuse leiomyomatosis", "HP:0006758": "Malignant genitourinary tract tumor", "HP:0006762": "Renal pelvic carcinoma", "HP:0006763": "Anal canal squamous carcinoma", "HP:0006765": "Chondrosarcoma", "HP:0006766": "Papillary renal cell carcinoma", "HP:0006767": "Pituitary prolactin cell adenoma", "HP:0006768": "Localized neuroblastoma", "HP:0006769": "Myxoid subcutaneous tumors", "HP:0006770": "Clear cell renal cell carcinoma", "HP:0006771": "Duodenal adenocarcinoma", "HP:0006772": "Renal angiomyolipoma", "HP:0006773": "Cutaneous angiolipomas", "HP:0006774": "Ovarian papillary adenocarcinoma", "HP:0006775": "Multiple myeloma", "HP:0006778": "Benign genitourinary tract neoplasm", "HP:0006779": "Alveolar rhabdomyosarcoma", "HP:0006780": "Parathyroid carcinoma", "HP:0006781": "Hurthle cell thyroid adenoma", "HP:0006782": "Malignant eosinophil proliferation", "HP:0006783": "Posterior pharyngeal cleft", "HP:0006784": "Paranasal sinus hypoplasia", "HP:0006785": "Limb-girdle muscular dystrophy", "HP:0006789": "Mitochondrial encephalopathy", "HP:0006790": "Cerebral cortex with spongiform changes", "HP:0006794": "Loss of ability to walk in first decade", "HP:0006799": "Basal ganglia cysts", "HP:0006801": "Hyperactive deep tendon reflexes", "HP:0006802": "Abnormal anterior horn cell morphology", "HP:0006803": "Vivid hallucinations", "HP:0006808": "Cerebral hypomyelination", "HP:0006812": "White mater abnormalities in the posterior periventricular region", "HP:0006813": "Focal hemiclonic seizure", "HP:0006817": "Aplasia/Hypoplasia of the cerebellar vermis", "HP:0006818": "4-layered lissencephaly", "HP:0006821": "Frontal polymicrogyria", "HP:0006824": "Cranial nerve paralysis", "HP:0006825": "Pallor of dorsal columns of the spinal cord", "HP:0006827": "Atrophy of the spinal cord", "HP:0006829": "Severe muscular hypotonia", "HP:0006834": "Developmental stagnation at onset of seizures", "HP:0006837": "Congenital Horner syndrome", "HP:0006844": "Absent patellar reflexes", "HP:0006846": "Acute encephalopathy", "HP:0006849": "Hypodysplasia of the corpus callosum", "HP:0006850": "Hypoplasia of the ventral pons", "HP:0006851": "Symmetric spinal nerve root neurofibromas", "HP:0006852": "Episodic generalized hypotonia", "HP:0006855": "Cerebellar vermis atrophy", "HP:0006858": "Impaired distal proprioception", "HP:0006859": "Posterior leukoencephalopathy", "HP:0006863": "Severe expressive language delay", "HP:0006865": "Sensorimotor polyneuropathy affecting arms more than legs", "HP:0006866": "Midline central nervous system lipomas", "HP:0006870": "Lobar holoprosencephaly", "HP:0006872": "Cerebral hypoplasia", "HP:0006873": "Symmetrical progressive peripheral demyelination", "HP:0006879": "Pontocerebellar atrophy", "HP:0006880": "Cerebellar hemangioblastoma", "HP:0006881": "Diffuse peripheral demyelination", "HP:0006882": "Severe hydrocephalus", "HP:0006886": "Impaired distal vibration sensation", "HP:0006887": "Intellectual disability, progressive", "HP:0006888": "Meningoencephalocele", "HP:0006889": "Intellectual disability, borderline", "HP:0006891": "Thick cerebral cortex", "HP:0006892": "Frontotemporal cerebral atrophy", "HP:0006894": "Hypoplastic olfactory lobes", "HP:0006895": "Lower limb hypertonia", "HP:0006896": "Hypnopompic hallucinations", "HP:0006897": "Abducens palsy", "HP:0006899": "Fusion of the cerebellar hemispheres", "HP:0006903": "Congenital peripheral neuropathy", "HP:0006904": "Late-onset spinocerebellar degeneration", "HP:0006906": "Congenital intracerebral calcification", "HP:0006913": "Frontal cortical atrophy", "HP:0006915": "Inability to walk by childhood/adolescence", "HP:0006916": "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material", "HP:0006918": "Diffuse cerebral sclerosis", "HP:0006919": "Abnormal aggressive, impulsive or violent behavior", "HP:0006921": "Axial muscle stiffness", "HP:0006926": "Metachromatic leukodystrophy variant", "HP:0006927": "Unilateral polymicrogyria", "HP:0006929": "Hypoglycemic encephalopathy", "HP:0006930": "Frontoparietal cortical dysplasia", "HP:0006931": "Pericallosal lipoma", "HP:0006932": "Transient psychotic episodes", "HP:0006934": "Congenital nystagmus", "HP:0006937": "Impaired distal tactile sensation", "HP:0006938": "Impaired vibration sensation at ankles", "HP:0006943": "Diffuse spongiform leukoencephalopathy", "HP:0006944": "Abolished vibration sense", "HP:0006946": "Recurrent meningitis", "HP:0006949": "Episodic peripheral neuropathy", "HP:0006951": "Retrocerebellar cyst", "HP:0006955": "Olivopontocerebellar hypoplasia", "HP:0006956": "Lateral ventricle dilatation", "HP:0006958": "Abnormal auditory evoked potentials", "HP:0006959": "Proximal spinal muscular atrophy", "HP:0006960": "Choroid plexus calcification", "HP:0006961": "Jerky head movements", "HP:0006962": "Gait instability, worse in the dark", "HP:0006964": "Cerebral cortical neurodegeneration", "HP:0006965": "Acute necrotizing encephalopathy", "HP:0006970": "Periventricular leukomalacia", "HP:0006976": "Necrotizing encephalopathy", "HP:0006977": "Deficit in grammar", "HP:0006978": "Dysmyelinating leukodystrophy", "HP:0006979": "Sleep-wake cycle disturbance", "HP:0006980": "Progressive leukoencephalopathy", "HP:0006986": "Upper limb spasticity", "HP:0006988": "Alobar holoprosencephaly", "HP:0006989": "Dysplastic corpus callosum", "HP:0006990": "Myelin-dependent gliosis", "HP:0006992": "Anterior basal encephalocele", "HP:0006994": "Diffuse leukoencephalopathy", "HP:0006999": "Basal ganglia gliosis", "HP:0007000": "Morning myoclonic jerks", "HP:0007001": "Loss of Purkinje cells in the cerebellar vermis", "HP:0007002": "Motor axonal neuropathy", "HP:0007006": "Dorsal column degeneration", "HP:0007007": "Cavitation of the basal ganglia", "HP:0007009": "Central nervous system degeneration", "HP:0007010": "Poor fine motor coordination", "HP:0007011": "Fourth cranial nerve palsy", "HP:0007015": "Poor gross motor coordination", "HP:0007016": "Corticospinal tract hypoplasia", "HP:0007017": "Progressive forgetfulness", "HP:0007018": "Attention deficit hyperactivity disorder", "HP:0007020": "Progressive spastic paraplegia", "HP:0007021": "Pain insensitivity", "HP:0007023": "Antenatal intracerebral hemorrhage", "HP:0007024": "Pseudobulbar paralysis", "HP:0007027": "Poorly formed metencephalon", "HP:0007029": "Cerebral berry aneurysm", "HP:0007030": "Nonprogressive encephalopathy", "HP:0007033": "Cerebellar dysplasia", "HP:0007034": "Generalized hyperreflexia", "HP:0007035": "Anterior encephalocele", "HP:0007036": "Hypoplasia of olfactory tract", "HP:0007039": "Symmetric lesions of the basal ganglia", "HP:0007041": "Chronic lymphocytic meningitis", "HP:0007042": "Focal white matter lesions", "HP:0007045": "Midline brain calcifications", "HP:0007047": "Atrophy of the dentate nucleus", "HP:0007048": "Large basal ganglia", "HP:0007052": "Multifocal cerebral white matter abnormalities", "HP:0007054": "Proximal hyperreflexia", "HP:0007057": "Poor hand-eye coordination", "HP:0007058": "Generalized cerebral atrophy/hypoplasia", "HP:0007063": "Aplasia of the inferior half of the cerebellar vermis", "HP:0007064": "Progressive language deterioration", "HP:0007065": "Disorganization of the anterior cerebellar vermis", "HP:0007066": "Proximal limb muscle stiffness", "HP:0007067": "Distal peripheral sensory neuropathy", "HP:0007068": "Inferior cerebellar vermis hypoplasia", "HP:0007069": "Profound static encephalopathy", "HP:0007074": "Thick corpus callosum", "HP:0007076": "Extrapyramidal muscular rigidity", "HP:0007078": "Decreased amplitude of sensory action potentials", "HP:0007081": "Late-onset muscular dystrophy", "HP:0007082": "Dilated third ventricle", "HP:0007083": "Hyperactive patellar reflex", "HP:0007086": "Social and occupational deterioration", "HP:0007089": "Facial-lingual fasciculations", "HP:0007096": "Hypoplasia of the optic tract", "HP:0007097": "Cranial nerve motor loss", "HP:0007098": "Paroxysmal choreoathetosis", "HP:0007099": "Chiari type I malformation", "HP:0007100": "Progressive ventriculomegaly", "HP:0007103": "Hypointensity of cerebral white matter on MRI", "HP:0007104": "Prolonged somatosensory evoked potentials", "HP:0007105": "Infantile encephalopathy", "HP:0007107": "Segmental peripheral demyelination", "HP:0007108": "Demyelinating peripheral neuropathy", "HP:0007109": "Periventricular cysts", "HP:0007110": "Central hypoventilation", "HP:0007111": "Chronic hepatic encephalopathy", "HP:0007112": "Temporal cortical atrophy", "HP:0007115": "Orbital encephalocele", "HP:0007117": "Corticospinal tract atrophy", "HP:0007123": "Subcortical dementia", "HP:0007126": "Proximal amyotrophy", "HP:0007129": "Cerebellar medulloblastoma", "HP:0007131": "Acute demyelinating polyneuropathy", "HP:0007132": "Pallidal degeneration", "HP:0007133": "Progressive peripheral neuropathy", "HP:0007141": "Sensorimotor neuropathy", "HP:0007146": "Bilateral basal ganglia lesions", "HP:0007149": "Distal upper limb amyotrophy", "HP:0007153": "Progressive extrapyramidal movement disorder", "HP:0007156": "Asymmetric limb muscle stiffness", "HP:0007158": "Progressive extrapyramidal muscular rigidity", "HP:0007159": "Fluctuations in consciousness", "HP:0007162": "Diffuse demyelination of the cerebral white matter", "HP:0007164": "Slowed slurred speech", "HP:0007165": "Periventricular heterotopia", "HP:0007166": "Paroxysmal dyskinesia", "HP:0007178": "Motor polyneuropathy", "HP:0007179": "Absent smooth pursuit", "HP:0007181": "Interosseus muscle atrophy", "HP:0007182": "Peripheral hypomyelination", "HP:0007183": "Focal T2 hyperintense basal ganglia lesion", "HP:0007185": "Loss of consciousness", "HP:0007187": "Focal lissencephaly", "HP:0007188": "Congenital facial diplegia", "HP:0007190": "Neuronal loss in the cerebral cortex", "HP:0007193": "Bilateral tonic-clonic seizure on awakening", "HP:0007199": "Progressive spastic paraparesis", "HP:0007200": "Episodic hypersomnia", "HP:0007201": "Cerebral artery atherosclerosis", "HP:0007204": "Diffuse white matter abnormalities", "HP:0007206": "Hemimegalencephaly", "HP:0007207": "Photosensitive tonic-clonic seizure", "HP:0007208": "Irregular myelin loops", "HP:0007209": "Facial paralysis", "HP:0007210": "Lower limb amyotrophy", "HP:0007215": "Periodic hyperkalemic paralysis", "HP:0007220": "Demyelinating motor neuropathy", "HP:0007221": "Progressive truncal ataxia", "HP:0007227": "Macrogyria", "HP:0007229": "Intracerebral periventricular calcifications", "HP:0007230": "Decreased distal sensory nerve action potential", "HP:0007232": "Spinocerebellar tract disease in lower limbs", "HP:0007233": "Clusters of axonal regeneration", "HP:0007236": "Recurrent subcortical infarcts", "HP:0007238": "Nonarteriosclerotic cerebral calcification", "HP:0007239": "Congenital encephalopathy", "HP:0007240": "Progressive gait ataxia", "HP:0007249": "Decreased number of small peripheral myelinated nerve fibers", "HP:0007250": "Recurrent external ophthalmoplegia", "HP:0007256": "Abnormal pyramidal sign", "HP:0007258": "Severe demyelination of the white matter", "HP:0007260": "Type II lissencephaly", "HP:0007262": "Symmetric peripheral demyelination", "HP:0007263": "Spinocerebellar atrophy", "HP:0007265": "Absent mesencephalon", "HP:0007266": "Cerebral dysmyelination", "HP:0007267": "Chronic axonal neuropathy", "HP:0007268": "Aprosencephaly", "HP:0007269": "Spinal muscular atrophy", "HP:0007270": "Atypical absence seizure", "HP:0007271": "Occipital myelomeningocele", "HP:0007272": "Progressive psychomotor deterioration", "HP:0007274": "Recurrent bacterial meningitis", "HP:0007277": "Paucity of anterior horn motor neurons", "HP:0007280": "Acute infantile spinal muscular atrophy", "HP:0007281": "Developmental stagnation", "HP:0007285": "Facial palsy secondary to cranial hyperostosis", "HP:0007286": "Horizontal jerk nystagmus", "HP:0007289": "Limb fasciculations", "HP:0007291": "Posterior fossa cyst", "HP:0007293": "Anterior sacral meningocele", "HP:0007295": "Chaotic rapid conjugate ocular movements", "HP:0007299": "Dysfunction of lateral corticospinal tracts", "HP:0007301": "Oromotor apraxia", "HP:0007302": "Bipolar affective disorder", "HP:0007305": "CNS demyelination", "HP:0007307": "Rapid neurologic deterioration", "HP:0007308": "Extrapyramidal dyskinesia", "HP:0007311": "Short stepped shuffling gait", "HP:0007313": "Cerebral degeneration", "HP:0007321": "Deep white matter hypodensities", "HP:0007325": "Generalized dystonia", "HP:0007326": "Progressive choreoathetosis", "HP:0007327": "Mixed demyelinating and axonal polyneuropathy", "HP:0007328": "Impaired pain sensation", "HP:0007330": "Frontal encephalocele", "HP:0007332": "Focal hemifacial clonic seizure", "HP:0007333": "Hypoplasia of the frontal lobes", "HP:0007334": "Bilateral tonic-clonic seizure with focal onset", "HP:0007335": "Recurrent encephalopathy", "HP:0007338": "Hypermetric saccades", "HP:0007340": "Lower limb muscle weakness", "HP:0007341": "Diffuse swelling of cerebral white matter", "HP:0007343": "Abnormal morphology of the limbic system", "HP:0007344": "Atrophy/Degeneration involving the spinal cord", "HP:0007346": "Subcortical white matter calcifications", "HP:0007348": "Hypoplasia of the pyramidal tract", "HP:0007350": "Hyperreflexia in upper limbs", "HP:0007351": "Upper limb postural tremor", "HP:0007352": "Cerebellar calcifications", "HP:0007354": "Amyotrophic lateral sclerosis", "HP:0007359": "Focal-onset seizure", "HP:0007360": "Aplasia/Hypoplasia of the cerebellum", "HP:0007361": "Abnormal pons morphology", "HP:0007362": "Aplasia/Hypoplasia of the brainstem", "HP:0007363": "Aplasia/Hypoplasia of the pyramidal tract", "HP:0007364": "Aplasia/Hypoplasia of the cerebrum", "HP:0007365": "Aplasia/Hypoplasia involving the corticospinal tracts", "HP:0007366": "Atrophy/Degeneration affecting the brainstem", "HP:0007367": "Atrophy/Degeneration affecting the central nervous system", "HP:0007369": "Atrophy/Degeneration affecting the cerebrum", "HP:0007370": "Aplasia/Hypoplasia of the corpus callosum", "HP:0007371": "Corpus callosum atrophy", "HP:0007372": "Atrophy/Degeneration involving the corticospinal tracts", "HP:0007373": "Motor neuron atrophy", "HP:0007374": "Atrophy/Degeneration involving the caudate nucleus", "HP:0007375": "Abnormal septum pellucidum morphology", "HP:0007376": "Abnormal choroid plexus morphology", "HP:0007377": "Abnormality of somatosensory evoked potentials", "HP:0007378": "Neoplasm of the gastrointestinal tract", "HP:0007379": "Neoplasm of the genitourinary tract", "HP:0007380": "Facial telangiectasia", "HP:0007381": "Congenital exfoliative erythroderma", "HP:0007383": "Congenital localized absence of skin", "HP:0007384": "Aberrant melanosome maturation", "HP:0007385": "Aplasia cutis congenita of scalp", "HP:0007387": "Hypoplastic sweat glands", "HP:0007390": "Hyperkeratosis with erythema", "HP:0007392": "Excessive wrinkled skin", "HP:0007394": "Prominent superficial blood vessels", "HP:0007395": "Postnatal-onset ichthyosiform erythroderma", "HP:0007396": "Early cutaneous photosensitivity", "HP:0007397": "Axillary apocrine gland hypoplasia", "HP:0007398": "Asymmetric, linear skin defects", "HP:0007400": "Irregular hyperpigmentation", "HP:0007401": "Macular atrophy", "HP:0007402": "Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines", "HP:0007403": "Hypertrophy of skin of soles", "HP:0007404": "Nonepidermolytic palmoplantar hyperkeratosis", "HP:0007406": "Hyperpigmentation of eyelids", "HP:0007407": "Excessive skin wrinkling on dorsum of hands and fingers", "HP:0007408": "Tegumentary leishmaniasis susceptibility", "HP:0007410": "Palmoplantar hyperhidrosis", "HP:0007411": "Hypoplastic-absent sebaceous glands", "HP:0007412": "Macular hyperpigmented dermopathy", "HP:0007413": "Nevus flammeus of the forehead", "HP:0007414": "Neonatal wrinkled skin of hands and feet", "HP:0007417": "Discoid lupus rash", "HP:0007418": "Alopecia totalis", "HP:0007420": "Spontaneous hematomas", "HP:0007421": "Telangiectases of the cheeks", "HP:0007425": "Hyperextensible skin of face", "HP:0007427": "Reticulated skin pigmentation", "HP:0007428": "Telangiectasia of the oral mucosa", "HP:0007429": "Few cafe-au-lait spots", "HP:0007430": "Generalized edema", "HP:0007431": "Congenital ichthyosiform erythroderma", "HP:0007432": "Intermittent generalized erythematous papular rash", "HP:0007434": "Plaque-like facial hemangioma", "HP:0007436": "Hair-nail ectodermal dysplasia", "HP:0007437": "Multiple cutaneous leiomyomas", "HP:0007438": "Mottled pigmentation of the trunk and proximal extremities", "HP:0007439": "Generalized keratosis follicularis", "HP:0007440": "Generalized hyperpigmentation", "HP:0007441": "Hyperpigmented/hypopigmented macules", "HP:0007443": "Partial albinism", "HP:0007446": "Palmoplantar blistering", "HP:0007447": "Diffuse palmoplantar hyperkeratosis", "HP:0007448": "Hyperkeratosis over edematous areas", "HP:0007449": "Confetti-like hypopigmented macules", "HP:0007450": "Increased groin pigmentation with raindrop depigmentation", "HP:0007451": "Ipsilateral lack of facial sweating", "HP:0007452": "Midface capillary hemangioma", "HP:0007453": "Flexural lichenification", "HP:0007455": "Adermatoglyphia", "HP:0007456": "Progressive reticulate hyperpigmentation", "HP:0007457": "Prominent veins on trunk", "HP:0007458": "Focal hyperextensible skin", "HP:0007459": "Generalized anhidrosis", "HP:0007460": "Autoamputation of digits", "HP:0007461": "Hemangiomatosis", "HP:0007462": "Bitot spots of the conjunctiva", "HP:0007464": "Sparse facial hair", "HP:0007465": "Honeycomb palmoplantar hyperkeratosis", "HP:0007466": "Midfrontal capillary hemangioma", "HP:0007468": "Perifollicular hyperkeratosis", "HP:0007469": "Palmoplantar cutis gyrata", "HP:0007470": "Periarticular subcutaneous nodules", "HP:0007471": "Axillary and groin hyperpigmentation and hypopigmentation", "HP:0007473": "Crusting erythematous dermatitis", "HP:0007475": "Congenital bullous ichthyosiform erythroderma", "HP:0007476": "Anhidrotic ectodermal dysplasia", "HP:0007477": "Abnormal dermatoglyphics", "HP:0007479": "Congenital nonbullous ichthyosiform erythroderma", "HP:0007480": "Decreased sweating due to autonomic dysfunction", "HP:0007481": "Hyperpigmented nevi", "HP:0007482": "Generalized papillary lesions", "HP:0007483": "Depigmentation/hyperpigmentation of skin", "HP:0007485": "Absence of subcutaneous fat", "HP:0007486": "Cavernous hemangioma of the face", "HP:0007488": "Diffuse skin atrophy", "HP:0007489": "Diffuse telangiectasia", "HP:0007490": "Linear arrays of macular hyperkeratoses in flexural areas", "HP:0007494": "Discrete 2 to 5-mm hyper- and hypopigmented macules", "HP:0007495": "Prematurely aged appearance", "HP:0007497": "Focal friction-related palmoplantar hyperkeratosis", "HP:0007499": "Recurrent staphylococcal infections", "HP:0007500": "Decreased number of sweat glands", "HP:0007501": "Streaks of hyperkeratosis along each finger onto the palm", "HP:0007502": "Follicular hyperkeratosis", "HP:0007503": "Generalized ichthyosis", "HP:0007504": "Diffuse slow skin atrophy", "HP:0007505": "Progressive hyperpigmentation", "HP:0007506": "Congenital absence of skin of limbs", "HP:0007508": "Punctate palmar hyperkeratosis", "HP:0007509": "Patchy hypo- and hyperpigmentation", "HP:0007510": "Focal dermal aplasia/hypoplasia", "HP:0007511": "Mottled pigmentation of photoexposed areas", "HP:0007513": "Generalized hypopigmentation", "HP:0007514": "Edema of the dorsum of hands", "HP:0007515": "Hypoplastic pilosebaceous units", "HP:0007516": "Redundant skin on fingers", "HP:0007517": "Palmoplantar cutis laxa", "HP:0007521": "Irregular hyperpigmentation of back", "HP:0007522": "Increased number of skin folds", "HP:0007524": "Atypical neurofibromatosis", "HP:0007525": "Yellow subcutaneous tissue covered by thin, scaly skin", "HP:0007526": "Hypopigmented skin patches on arms", "HP:0007529": "Hidrotic ectodermal dysplasia", "HP:0007530": "Punctate palmoplantar hyperkeratosis", "HP:0007534": "Congenital posterior occipital alopecia", "HP:0007535": "Hypopigmented streaks", "HP:0007536": "Aplasia cutis congenita of midline scalp vertex", "HP:0007537": "Severe photosensitivity", "HP:0007541": "Frontal cutaneous lipoma", "HP:0007542": "Absent pigmentation of the ventral chest", "HP:0007543": "Epidermal hyperkeratosis", "HP:0007544": "Piebaldism", "HP:0007545": "Congenital palmoplantar hyperkeratosis", "HP:0007546": "Linear hyperpigmentation", "HP:0007549": "Desquamation of skin soon after birth", "HP:0007550": "Hypohidrosis or hyperhidrosis", "HP:0007552": "Abnormal subcutaneous fat tissue distribution", "HP:0007553": "Congenital symmetrical palmoplantar keratosis", "HP:0007554": "Confetti hypopigmentation pattern of lower leg skin", "HP:0007556": "Plantar hyperkeratosis", "HP:0007559": "Localized epidermolytic hyperkeratosis", "HP:0007560": "Unusual dermatoglyphics", "HP:0007565": "Multiple cafe-au-lait spots", "HP:0007566": "Index finger dermatoglyphic radial loop", "HP:0007569": "Generalized seborrheic dermatitis", "HP:0007570": "Hyperkeratosis lenticularis perstans", "HP:0007572": "Hyperpigmented streaks", "HP:0007573": "Late onset atopic dermatitis", "HP:0007574": "Generalized bronze hyperpigmentation", "HP:0007576": "Palmar neurofibroma", "HP:0007581": "Mediosternal, longitudinal streak of hypopigmentation", "HP:0007583": "Telangiectasia macularis eruptiva perstans", "HP:0007585": "Skin fragility with non-scarring blistering", "HP:0007586": "Telangiectases producing 'marbled' skin", "HP:0007587": "Numerous pigmented freckles", "HP:0007588": "Reticular hyperpigmentation", "HP:0007589": "Aplasia cutis congenita on trunk or limbs", "HP:0007590": "Aplasia cutis congenita over posterior parietal area", "HP:0007592": "Aplasia/Hypoplastia of the eccrine sweat glands", "HP:0007595": "Redundant skin in infancy", "HP:0007596": "Painful subcutaneous lipomas", "HP:0007598": "Bilateral single transverse palmar creases", "HP:0007599": "Generalized reticulate brown pigmentation", "HP:0007601": "Midline facial capillary hemangioma", "HP:0007602": "Complex palmar dermatoglyphic pattern", "HP:0007603": "Freckles in sun-exposed areas", "HP:0007605": "Excessive wrinkling of palmar skin", "HP:0007606": "Multiple cutaneous malignancies", "HP:0007607": "Hypohidrotic ectodermal dysplasia", "HP:0007608": "Abnormal palmar dermal ridges", "HP:0007609": "Hypoproteinemic edema", "HP:0007610": "Blotching pigmentation of the skin", "HP:0007613": "Spinous keratoses of palms and soles", "HP:0007616": "Nevus flammeus nuchae", "HP:0007617": "Fine, reticulate skin pigmentation", "HP:0007618": "Subcutaneous calcification", "HP:0007620": "Cutaneous leiomyoma", "HP:0007621": "Telangiectasia of extensor surfaces", "HP:0007623": "Pigmentation anomalies of sun-exposed skin", "HP:0007626": "Mandibular osteomyelitis", "HP:0007627": "Mandibular condyle aplasia", "HP:0007628": "Mandibular condyle hypoplasia", "HP:0007633": "Bilateral microphthalmos", "HP:0007634": "Nonarteritic anterior ischemic optic neuropathy", "HP:0007641": "Dyschromatopsia", "HP:0007642": "Congenital stationary night blindness", "HP:0007643": "Peripheral tractional retinal detachment", "HP:0007646": "Absent lower eyelashes", "HP:0007647": "Congenital extraocular muscle anomaly", "HP:0007648": "Punctate cataract", "HP:0007649": "Congenital hypertrophy of retinal pigment epithelium", "HP:0007650": "Progressive ophthalmoplegia", "HP:0007651": "Ectropion of lower eyelids", "HP:0007655": "Eversion of lateral third of lower eyelids", "HP:0007656": "Lacrimal gland aplasia", "HP:0007657": "Diffuse nuclear cataract", "HP:0007658": "Large hyperpigmented retinal spots", "HP:0007661": "Abnormality of chorioretinal pigmentation", "HP:0007663": "Reduced visual acuity", "HP:0007665": "Curly eyelashes", "HP:0007667": "Peripheral cystoid retinal degeneration", "HP:0007668": "Impaired pursuit initiation and maintenance", "HP:0007670": "Abnormal vestibulo-ocular reflex", "HP:0007675": "Progressive night blindness", "HP:0007676": "Hypoplasia of the iris", "HP:0007677": "Vitelliform-like macular lesions", "HP:0007678": "Lacrimal duct stenosis", "HP:0007680": "Depigmented fundus", "HP:0007685": "Peripheral retinal avascularization", "HP:0007686": "Abnormal pupillary function", "HP:0007687": "Unilateral ptosis", "HP:0007688": "Undetectable light- and dark-adapted electroretinogram", "HP:0007690": "Map-dot-fingerprint corneal dystrophy", "HP:0007695": "Abnormal pupillary light reflex", "HP:0007697": "Hypoplasia of the lower eyelids", "HP:0007700": "Ocular anterior segment dysgenesis", "HP:0007703": "Abnormality of retinal pigmentation", "HP:0007704": "Paroxysmal involuntary eye movements", "HP:0007705": "Corneal degeneration", "HP:0007707": "Congenital aphakia", "HP:0007708": "Absent inner eyelashes", "HP:0007709": "Band-shaped corneal dystrophy", "HP:0007710": "Peripheral vitreous opacities", "HP:0007715": "Weak extraocular muscles", "HP:0007716": "Uveal melanoma", "HP:0007717": "Chronic irritative conjunctivitis", "HP:0007720": "Flat cornea", "HP:0007721": "Saccular conjunctival dilatations", "HP:0007722": "Retinal pigment epithelial atrophy", "HP:0007727": "Opacification of the corneal epithelium", "HP:0007728": "Congenital miosis", "HP:0007730": "Iris hypopigmentation", "HP:0007731": "Chorioretinal dysplasia", "HP:0007732": "Lacrimal gland hypoplasia", "HP:0007733": "Laterally curved eyebrow", "HP:0007734": "Enlarged lacrimal glands", "HP:0007737": "Bone spicule pigmentation of the retina", "HP:0007738": "Uncontrolled eye movements", "HP:0007740": "Long eyelashes in irregular rows", "HP:0007747": "Monocular horizontal nystagmus", "HP:0007750": "Hypoplasia of the fovea", "HP:0007754": "Macular dystrophy", "HP:0007755": "Juvenile epithelial corneal dystrophy", "HP:0007759": "Opacification of the corneal stroma", "HP:0007760": "Crystalline corneal dystrophy", "HP:0007761": "Pericentral scotoma", "HP:0007763": "Retinal telangiectasia", "HP:0007765": "Deep anterior chamber", "HP:0007766": "Optic disc hypoplasia", "HP:0007768": "Central retinal vessel vascular tortuosity", "HP:0007769": "Peripheral retinal degeneration", "HP:0007770": "Hypoplasia of the retina", "HP:0007772": "Impaired smooth pursuit", "HP:0007773": "Vitreoretinopathy", "HP:0007774": "Hypoplasia of the ciliary body", "HP:0007776": "Sparse lower eyelashes", "HP:0007777": "Chorioretinal scar", "HP:0007778": "Posterior retinal neovascularization", "HP:0007779": "Anterior segment of eye aplasia", "HP:0007780": "Cortical pulverulent cataract", "HP:0007787": "Posterior subcapsular cataract", "HP:0007791": "Patchy atrophy of the retinal pigment epithelium", "HP:0007792": "Microsaccadic pursuit", "HP:0007793": "Granular macular appearance", "HP:0007795": "Anterior cortical cataract", "HP:0007797": "Retinal vascular malformation", "HP:0007799": "Conjunctival whitish salt-like deposits", "HP:0007800": "Increased axial length of the globe", "HP:0007802": "Granular corneal dystrophy", "HP:0007803": "Monochromacy", "HP:0007807": "Optic nerve compression", "HP:0007809": "Punctate corneal dystrophy", "HP:0007811": "Horizontal pendular nystagmus", "HP:0007812": "Herpetiform corneal ulceration", "HP:0007813": "Nongranulomatous uveitis", "HP:0007814": "Retinal pigment epithelial mottling", "HP:0007815": "Abnormal distribution of retinal arterioles and venules", "HP:0007817": "Horizontal supranuclear gaze palsy", "HP:0007818": "Central heterochromia", "HP:0007819": "Presenile cataracts", "HP:0007820": "Lacrimal punctal atresia", "HP:0007822": "Central retinal exudate", "HP:0007824": "Total ophthalmoplegia", "HP:0007827": "Nodular corneal dystrophy", "HP:0007830": "Adult-onset night blindness", "HP:0007831": "Nonprogressive restrictive external ophthalmoplegia", "HP:0007832": "Pigmentation of the sclera", "HP:0007833": "Anterior chamber synechiae", "HP:0007834": "Progressive cataract", "HP:0007835": "S-shaped palpebral fissures", "HP:0007836": "Mosaic corneal dystrophy", "HP:0007838": "Progressive ptosis", "HP:0007840": "Long upper eyelashes", "HP:0007841": "Amyloid deposition in the vitreous humor", "HP:0007843": "Attenuation of retinal blood vessels", "HP:0007850": "Retinal vascular proliferation", "HP:0007854": "Glaucomatous visual field defect", "HP:0007856": "Punctate opacification of the cornea", "HP:0007858": "Chorioretinal lacunae", "HP:0007859": "Congenital horizontal nystagmus", "HP:0007862": "Retinal calcification", "HP:0007866": "Retinal infarction", "HP:0007867": "Restrictive partial external ophthalmoplegia", "HP:0007872": "Choroidal hemangioma", "HP:0007873": "Abnormally prominent line of Schwalbe", "HP:0007874": "Almond-shaped palpebral fissure", "HP:0007875": "Congenital blindness", "HP:0007879": "Allergic conjunctivitis", "HP:0007880": "Marginal corneal dystrophy", "HP:0007881": "Central corneal dystrophy", "HP:0007885": "Slowed horizontal saccades", "HP:0007886": "Absent extraocular muscles", "HP:0007889": "Iridescent posterior subcapsular cataract", "HP:0007892": "Hypoplasia of the lacrimal punctum", "HP:0007894": "Hypopigmentation of the fundus", "HP:0007898": "Exudative retinopathy", "HP:0007899": "Retinal nonattachment", "HP:0007900": "Hypoplastic lacrimal duct", "HP:0007902": "Vitreous hemorrhage", "HP:0007903": "Paravenous chorioretinal atrophy", "HP:0007905": "Abnormal iris vasculature", "HP:0007906": "Ocular hypertension", "HP:0007911": "Congenital bilateral ptosis", "HP:0007913": "Reticular retinal dystrophy", "HP:0007915": "Polymorphous posterior corneal dystrophy", "HP:0007917": "Tractional retinal detachment", "HP:0007922": "Hypermyelinated retinal nerve fibers", "HP:0007924": "Slow decrease in visual acuity", "HP:0007925": "Lacrimal duct aplasia", "HP:0007928": "Abnormal flash visual evoked potentials", "HP:0007929": "Peripheral retinal detachment", "HP:0007932": "Bilateral congenital mydriasis", "HP:0007933": "Broad lateral eyebrow", "HP:0007935": "Juvenile posterior subcapsular lenticular opacities", "HP:0007936": "Restrictive external ophthalmoplegia", "HP:0007937": "Reticular pigmentary degeneration", "HP:0007939": "Blue cone monochromacy", "HP:0007941": "Limited extraocular movements", "HP:0007942": "Internal ophthalmoplegia", "HP:0007943": "Congenital stapes ankylosis", "HP:0007944": "Intermittent microsaccadic pursuits", "HP:0007946": "Unilateral narrow palpebral fissure", "HP:0007947": "Pericentral retinitis pigmentosa", "HP:0007948": "Dense posterior cortical cataract", "HP:0007950": "Peripapillary chorioretinal atrophy", "HP:0007957": "Corneal opacity", "HP:0007958": "Optic atrophy from cranial nerve compression", "HP:0007962": "Speckled corneal dystrophy", "HP:0007963": "Pattern dystrophy of the retina", "HP:0007964": "Degenerative vitreoretinopathy", "HP:0007965": "Undetectable visual evoked potentials", "HP:0007968": "Remnants of the hyaloid vascular system", "HP:0007970": "Congenital ptosis", "HP:0007971": "Lamellar cataract", "HP:0007973": "Retinal dysplasia", "HP:0007975": "Hypometric horizontal saccades", "HP:0007976": "Cerulean cataract", "HP:0007979": "Gaze-evoked horizontal nystagmus", "HP:0007980": "Absent retinal pigment epithelium", "HP:0007984": "Electronegative electroretinogram", "HP:0007985": "Retinal arteriolar occlusion", "HP:0007986": "Increased retinal vascularity", "HP:0007987": "Progressive visual field defects", "HP:0007988": "Macular hypopigmentation", "HP:0007989": "Intraretinal exudate", "HP:0007990": "Hypoplastic iris stroma", "HP:0007992": "Lattice retinal degeneration", "HP:0007993": "Malformed lacrimal duct", "HP:0007994": "Peripheral visual field loss", "HP:0008000": "Decreased corneal reflex", "HP:0008001": "Foveal hyperpigmentation", "HP:0008002": "Abnormality of macular pigmentation", "HP:0008003": "Jerky ocular pursuit movements", "HP:0008007": "Primary congenital glaucoma", "HP:0008009": "Three rows of eyelashes", "HP:0008011": "Peripheral opacification of the cornea", "HP:0008014": "Central fundal arteriolar microaneurysms", "HP:0008019": "Superior lens subluxation", "HP:0008020": "Cone dystrophy", "HP:0008026": "Horizontal opticokinetic nystagmus", "HP:0008028": "Cystoid macular degeneration", "HP:0008030": "Retinal arteritis", "HP:0008031": "Posterior Y-sutural cataract", "HP:0008034": "Abnormal iris pigmentation", "HP:0008035": "Retinitis pigmentosa inversa", "HP:0008037": "Absent anterior chamber of the eye", "HP:0008038": "Aplastic/hypoplastic lacrimal glands", "HP:0008039": "Subepithelial corneal opacities", "HP:0008041": "Late onset congenital glaucoma", "HP:0008043": "Retinal arteriolar constriction", "HP:0008045": "Enlarged flash visual evoked potentials", "HP:0008046": "Abnormal retinal vascular morphology", "HP:0008047": "Abnormality of the vasculature of the eye", "HP:0008048": "Abnormal line of Schwalbe morphology", "HP:0008049": "Abnormality of the extraocular muscles", "HP:0008050": "Abnormality of the palpebral fissures", "HP:0008052": "Retinal fold", "HP:0008053": "Aplasia/Hypoplasia of the iris", "HP:0008054": "Abnormal morphology of the conjunctival vasculature", "HP:0008055": "Aplasia/Hypoplasia affecting the uvea", "HP:0008056": "Aplasia/Hypoplasia affecting the eye", "HP:0008057": "Aplasia/Hypoplasia affecting the fundus", "HP:0008058": "Aplasia/Hypoplasia of the optic nerve", "HP:0008059": "Aplasia/Hypoplasia of the macula", "HP:0008060": "Aplasia/Hypoplasia of the fovea", "HP:0008061": "Aplasia/Hypoplasia of the retina", "HP:0008062": "Aplasia/Hypoplasia affecting the anterior segment of the eye", "HP:0008063": "Aplasia/Hypoplasia of the lens", "HP:0008064": "Ichthyosis", "HP:0008065": "Aplasia/Hypoplasia of the skin", "HP:0008066": "Abnormal blistering of the skin", "HP:0008067": "Abnormally lax or hyperextensible skin", "HP:0008069": "Neoplasm of the skin", "HP:0008070": "Sparse hair", "HP:0008071": "Maternal hypertension", "HP:0008072": "Maternal virilization in pregnancy", "HP:0008073": "Low maternal circulating estriol concentration", "HP:0008074": "Metatarsal periosteal thickening", "HP:0008076": "Osteoporotic tarsals", "HP:0008078": "Thin metatarsal cortices", "HP:0008079": "Absent fifth metatarsal", "HP:0008080": "Hallux varus", "HP:0008081": "Pes valgus", "HP:0008082": "Medial deviation of the foot", "HP:0008083": "2nd-5th toe middle phalangeal hypoplasia", "HP:0008087": "Nonossified fifth metatarsal", "HP:0008089": "Abnormality of the fifth metatarsal bone", "HP:0008090": "Ankylosis of feet small joints", "HP:0008093": "Short 4th toe", "HP:0008094": "Widely spaced toes", "HP:0008095": "Osteolysis of talus", "HP:0008096": "Medially deviated second toe", "HP:0008097": "Partial fusion of tarsals", "HP:0008102": "Expanded metatarsals with widened medullary cavities", "HP:0008103": "Delayed tarsal ossification", "HP:0008107": "Plantar crease between first and second toes", "HP:0008108": "Advanced tarsal ossification", "HP:0008110": "Equinovarus deformity", "HP:0008111": "Broad distal hallux", "HP:0008112": "Plantar flexion contracture", "HP:0008113": "Multiple plantar creases", "HP:0008114": "Metatarsal diaphyseal endosteal sclerosis", "HP:0008115": "Clinodactyly of the 3rd toe", "HP:0008116": "Flexion limitation of toes", "HP:0008117": "Shortening of the talar neck", "HP:0008119": "Deformed tarsal bones", "HP:0008122": "Calcaneonavicular fusion", "HP:0008124": "Talipes calcaneovarus", "HP:0008125": "Second metatarsal posteriorly placed", "HP:0008127": "Bipartite calcaneus", "HP:0008131": "Tarsal stippling", "HP:0008132": "Medial rotation of the medial malleolus", "HP:0008133": "Distal tapering of metatarsals", "HP:0008134": "Irregular tarsal ossification", "HP:0008138": "Equinus calcaneus", "HP:0008141": "Dislocation of toes", "HP:0008142": "Delayed calcaneal ossification", "HP:0008144": "Flattening of the talar dome", "HP:0008148": "Impaired epinephrine-induced platelet aggregation", "HP:0008150": "Elevated serum transaminases during infections", "HP:0008151": "Prolonged prothrombin time", "HP:0008153": "Periodic hypokalemic paresis", "HP:0008155": "Mucopolysacchariduria", "HP:0008158": "Hyperapobetalipoproteinemia", "HP:0008160": "3-hydroxydicarboxylic aciduria", "HP:0008161": "Absent leukocyte alkaline phosphatase", "HP:0008162": "Asymptomatic hyperammonemia", "HP:0008163": "Decreased circulating cortisol level", "HP:0008165": "Decreased helper T cell proportion", "HP:0008166": "Decreased beta-galactosidase activity", "HP:0008167": "Very long chain fatty acid accumulation", "HP:0008169": "Reduced factor VII activity", "HP:0008176": "Neonatal unconjugated hyperbilirubinemia", "HP:0008178": "Abnormal cartilage matrix", "HP:0008179": "Decreased Arden ratio of electrooculogram", "HP:0008180": "Mildly elevated creatine kinase", "HP:0008181": "Abetalipoproteinemia", "HP:0008182": "Adrenocortical hypoplasia", "HP:0008185": "Precocious puberty in males", "HP:0008186": "Adrenocortical cytomegaly", "HP:0008187": "Absence of secondary sex characteristics", "HP:0008188": "Thyroid dysgenesis", "HP:0008189": "Insulin insensitivity", "HP:0008191": "Thyroid agenesis", "HP:0008193": "Primary gonadal insufficiency", "HP:0008194": "Multiple pancreatic beta-cell adenomas", "HP:0008197": "Absence of pubertal development", "HP:0008198": "Congenital hypoparathyroidism", "HP:0008200": "Primary hyperparathyroidism", "HP:0008202": "Reduced circulating prolactin concentration", "HP:0008204": "Precocious puberty with Sertoli cell tumor", "HP:0008205": "Insulin-dependent but ketosis-resistant diabetes", "HP:0008207": "Primary adrenal insufficiency", "HP:0008208": "Parathyroid hyperplasia", "HP:0008209": "Premature ovarian insufficiency", "HP:0008211": "Parathyroid agenesis", "HP:0008213": "Gonadotropin deficiency", "HP:0008214": "Decreased serum estradiol", "HP:0008216": "Adrenal gland dysgenesis", "HP:0008221": "Adrenal hyperplasia", "HP:0008222": "Female infertility", "HP:0008223": "Compensated hypothyroidism", "HP:0008225": "Thyroid follicular hyperplasia", "HP:0008226": "Androgen insufficiency", "HP:0008227": "Pituitary resistance to thyroid hormone", "HP:0008229": "Thyroid lymphangiectasia", "HP:0008231": "Macronodular adrenal hyperplasia", "HP:0008232": "Elevated circulating follicle stimulating hormone level", "HP:0008233": "Decreased circulating progesterone", "HP:0008236": "Isosexual precocious puberty", "HP:0008237": "Hypothalamic hypothyroidism", "HP:0008239": "Adrenal medullary hypoplasia", "HP:0008240": "Secondary growth hormone deficiency", "HP:0008242": "Pseudohypoaldosteronism", "HP:0008244": "Congenital adrenal hypoplasia", "HP:0008245": "Pituitary hypothyroidism", "HP:0008247": "Euthyroid hyperthyroxinemia", "HP:0008249": "Thyroid hyperplasia", "HP:0008251": "Congenital goiter", "HP:0008255": "Transient neonatal diabetes mellitus", "HP:0008256": "Adrenocortical adenoma", "HP:0008258": "Congenital adrenal hyperplasia", "HP:0008259": "Adrenocorticotropin receptor defect", "HP:0008261": "Pancreatic islet cell adenoma", "HP:0008263": "Thyroid defect in oxidation and organification of iodide", "HP:0008264": "Neutrophil inclusion bodies", "HP:0008265": "Mitochondrial lysine transport defect", "HP:0008269": "Increased red cell hemolysis by shear stress", "HP:0008271": "Abnormal cartilage collagen", "HP:0008272": "Renal tubular lysine transport defect", "HP:0008273": "Transient aminoaciduria", "HP:0008275": "Abnormal light-adapted electroretinogram", "HP:0008277": "Abnormal blood zinc concentration", "HP:0008278": "Cerebellar cortical atrophy", "HP:0008279": "Transient hyperlipidemia", "HP:0008281": "Acute hyperammonemia", "HP:0008282": "Unconjugated hyperbilirubinemia", "HP:0008283": "Fasting hyperinsulinemia", "HP:0008285": "Transient hypophosphatemia", "HP:0008288": "Nonketotic hyperglycinemia", "HP:0008290": "Partial complement factor H deficiency", "HP:0008291": "Pituitary corticotropic cell adenoma", "HP:0008293": "Long-chain dicarboxylic aciduria", "HP:0008297": "Transient hyperphenylalaninemia", "HP:0008301": "Dermatan sulfate excretion in urine", "HP:0008303": "Olivary degeneration", "HP:0008305": "Exercise-induced myoglobinuria", "HP:0008306": "Abnormal iron deposition in mitochondria", "HP:0008309": "Medium chain dicarboxylic aciduria", "HP:0008311": "Spinal cord posterior columns myelin loss", "HP:0008314": "Decreased activity of mitochondrial complex II", "HP:0008315": "Decreased plasma free carnitine", "HP:0008316": "Abnormal mitochondria in muscle tissue", "HP:0008318": "Elevated leukocyte alkaline phosphatase", "HP:0008320": "Impaired collagen-induced platelet aggregation", "HP:0008321": "Reduced factor X activity", "HP:0008322": "Abnormal mitochondrial morphology", "HP:0008323": "Abnormal light- and dark-adapted electroretinogram", "HP:0008326": "Reduced circulating vitamin B6 level", "HP:0008327": "Microscopic nephrocalcinosis", "HP:0008330": "Reduced von Willebrand factor activity", "HP:0008331": "Elevated creatine kinase after exercise", "HP:0008336": "Complex organic aciduria", "HP:0008338": "Partial functional complement factor D deficiency", "HP:0008339": "Diaminoaciduria", "HP:0008341": "Distal renal tubular acidosis", "HP:0008344": "Elevated circulating branched chain amino acid concentration", "HP:0008345": "Hypoplasia of the iris dilator muscle", "HP:0008346": "Increased red cell sickling tendency", "HP:0008347": "Decreased activity of mitochondrial complex IV", "HP:0008348": "Decreased circulating IgG2 level", "HP:0008352": "Impaired platelet adhesion", "HP:0008353": "Neutral hyperaminoaciduria", "HP:0008354": "Factor X activation deficiency", "HP:0008357": "Reduced factor XIII activity", "HP:0008358": "Hyperprolinemia", "HP:0008360": "Neonatal hypoproteinemia", "HP:0008361": "Corticospinal tract pallor", "HP:0008362": "Aplasia/Hypoplasia of the hallux", "HP:0008363": "Aplasia/Hypoplasia of the tarsal bones", "HP:0008364": "Abnormality of the calcaneus", "HP:0008365": "Abnormal talus morphology", "HP:0008366": "Foot joint contracture", "HP:0008368": "Tarsal synostosis", "HP:0008369": "Abnormal tarsal ossification", "HP:0008371": "Abnormal metatarsal ossification", "HP:0008372": "Abnormality of vitamin A metabolism", "HP:0008373": "Puberty and gonadal disorders", "HP:0008376": "Nasal, dysarthic speech", "HP:0008383": "Slow-growing nails", "HP:0008386": "Aplasia/Hypoplasia of the nails", "HP:0008388": "Abnormal toenail morphology", "HP:0008390": "Recurrent loss of toenails and fingernails", "HP:0008391": "Dystrophic fingernails", "HP:0008392": "Subungual hyperkeratosis", "HP:0008393": "Congenital curved nail of fourth toe", "HP:0008394": "Congenital onychodystrophy", "HP:0008396": "Chronic monilial nail infection", "HP:0008398": "Hypoplastic fifth fingernail", "HP:0008399": "Circumungual hyperkeratosis", "HP:0008400": "Onycholysis of distal fingernails", "HP:0008401": "Onychogryposis of toenails", "HP:0008402": "Ridged fingernail", "HP:0008404": "Nail dystrophy", "HP:0008407": "Hyperconvex thumb nails", "HP:0008410": "Subungual hyperkeratotic fragments", "HP:0008414": "Lumbar kyphosis in infancy", "HP:0008416": "Six lumbar vertebrae", "HP:0008417": "Vertebral hypoplasia", "HP:0008418": "Squared-off platyspondyly", "HP:0008419": "Intervertebral disc degeneration", "HP:0008420": "Punctate vertebral calcifications", "HP:0008421": "Tall lumbar vertebral bodies", "HP:0008422": "Vertebral wedging", "HP:0008423": "Spinal dysplasia", "HP:0008424": "Hypoplastic 5th lumbar vertebrae", "HP:0008425": "Cuboid-shaped thoracolumbar vertebral bodies", "HP:0008428": "Vertebral clefting", "HP:0008430": "Anterior beaking of lumbar vertebrae", "HP:0008432": "Anterior wedging of L1", "HP:0008433": "Reversed usual vertebral column curves", "HP:0008434": "Hypoplastic cervical vertebrae", "HP:0008435": "Absent in utero ossification of vertebral bodies", "HP:0008436": "Absent/hypoplastic coccyx", "HP:0008437": "Bifid thoracic vertebrae", "HP:0008438": "Vertebral arch anomaly", "HP:0008439": "Lumbar hemivertebrae", "HP:0008440": "C1-C2 vertebral abnormality", "HP:0008441": "Herniation of intervertebral nuclei", "HP:0008442": "Vertebral hyperostosis", "HP:0008443": "Neuropathic spinal arthropathy", "HP:0008444": "Posterior wedging of vertebral bodies", "HP:0008445": "Cervical spinal canal stenosis", "HP:0008447": "Hypoplastic coccygeal vertebrae", "HP:0008449": "Progressive cervical vertebral spine fusion", "HP:0008450": "Narrow vertebral interpedicular distance", "HP:0008451": "Posterior vertebral hypoplasia", "HP:0008452": "Wafer-thin platyspondyly", "HP:0008453": "Congenital kyphoscoliosis", "HP:0008454": "Lumbar kyphosis", "HP:0008455": "Dysplastic sacrum", "HP:0008456": "C2-C3 subluxation", "HP:0008457": "Caudal interpedicular narrowing", "HP:0008458": "Progressive congenital scoliosis", "HP:0008459": "Cervical vertebral agenesis", "HP:0008460": "Hypoplastic spinal processes", "HP:0008461": "Cervical vertebral facet hypoplasia", "HP:0008462": "Cervical instability", "HP:0008463": "Central vertebral hypoplasia", "HP:0008464": "Absent spinous processes of lower thoracic and lumbar vertebrae", "HP:0008465": "Absent vertebra", "HP:0008467": "Thoracic hemivertebrae", "HP:0008468": "Abnormal sacral segmentation", "HP:0008469": "Cervical vertebral dysplasia", "HP:0008470": "Lower thoracic interpediculate narrowness", "HP:0008472": "Prominent protruding coccyx", "HP:0008473": "Narrow anterio-posterior vertebral body diameter", "HP:0008475": "Hypoplastic sacral vertebrae", "HP:0008476": "Irregular sclerotic endplates", "HP:0008477": "Poorly ossified cervical vertebrae", "HP:0008478": "Scheuermann-like vertebral changes", "HP:0008479": "Hypoplastic vertebral bodies", "HP:0008480": "Cervical spondylosis", "HP:0008482": "Asymmetry of spinal facet joints", "HP:0008483": "Cervical vertebral bodies with decreased anteroposterior diameter", "HP:0008484": "Thoracolumbar interpediculate narrowness", "HP:0008486": "Lumbar interpedicular narrowing", "HP:0008488": "Anterior rounding of vertebral bodies", "HP:0008489": "Spondylolisthesis at L5-S1", "HP:0008490": "Sacral segmentation defect", "HP:0008491": "Premature anterior fontanel closure", "HP:0008494": "Inferior lens subluxation", "HP:0008496": "Multiple rows of eyelashes", "HP:0008497": "Congenital craniofacial dysostosis", "HP:0008498": "No permanent dentition", "HP:0008499": "High hypermetropia", "HP:0008501": "Median cleft lip and palate", "HP:0008504": "Moderate sensorineural hearing impairment", "HP:0008507": "Static ophthalmoparesis", "HP:0008509": "Aged leonine appearance", "HP:0008511": "Central posterior corneal opacity", "HP:0008513": "Bilateral conductive hearing impairment", "HP:0008515": "Aplasia/Hypoplasia of the vertebrae", "HP:0008516": "Abnormality of the vertebral spinous processes", "HP:0008517": "Aplasia/Hypoplasia of the sacrum", "HP:0008518": "Aplasia/Hypoplasia involving the vertebral column", "HP:0008519": "Abnormal coccyx morphology", "HP:0008523": "Posterior helix pit", "HP:0008527": "Congenital sensorineural hearing impairment", "HP:0008528": "Long hairs growing from helix of pinna", "HP:0008529": "Absence of acoustic reflex", "HP:0008537": "Cleft at the superior portion of the pinna", "HP:0008541": "Superiorly displaced ears", "HP:0008542": "Low-frequency hearing loss", "HP:0008544": "Abnormally folded helix", "HP:0008551": "Microtia", "HP:0008554": "Cochlear malformation", "HP:0008555": "Absent vestibular function", "HP:0008559": "Hypoplastic superior helix", "HP:0008568": "Vestibular areflexia", "HP:0008569": "Microtia, second degree", "HP:0008572": "External ear malformation", "HP:0008573": "Low-frequency sensorineural hearing impairment", "HP:0008577": "Underfolded helix", "HP:0008583": "Underfolded superior helices", "HP:0008586": "Hypoplasia of the cochlea", "HP:0008587": "Mild neurosensory hearing impairment", "HP:0008588": "Slit-like opening of the exterior auditory meatus", "HP:0008589": "Hypoplastic helices", "HP:0008591": "Congenital conductive hearing impairment", "HP:0008593": "Prominent antitragus", "HP:0008596": "Postlingual sensorineural hearing impairment", "HP:0008598": "Mild conductive hearing impairment", "HP:0008605": "Unilateral external ear deformity", "HP:0008606": "Supraauricular pit", "HP:0008607": "Progressive conductive hearing impairment", "HP:0008608": "Hypertrophic auricular cartilage", "HP:0008609": "Morphological abnormality of the middle ear", "HP:0008610": "Infantile sensorineural hearing impairment", "HP:0008615": "Adult onset sensorineural hearing impairment", "HP:0008619": "Bilateral sensorineural hearing impairment", "HP:0008625": "Severe sensorineural hearing impairment", "HP:0008628": "Abnormality of the stapes", "HP:0008629": "Pulsatile tinnitus", "HP:0008631": "Ureteral dysgenesis", "HP:0008633": "Agonadism", "HP:0008635": "Hypertrophy of the urinary bladder", "HP:0008636": "Lobular glomerulopathy", "HP:0008639": "Gonadal hypoplasia", "HP:0008640": "Congenital macroorchidism", "HP:0008643": "Nephroblastomatosis", "HP:0008647": "Pubertal developmental failure in females", "HP:0008648": "Anteriorly displaced urethral meatus", "HP:0008651": "Uric acid urolithiasis independent of gout", "HP:0008652": "Autonomic erectile dysfunction", "HP:0008653": "Crescentic glomerulonephritis", "HP:0008655": "Aplasia/Hypoplasia of the fallopian tube", "HP:0008656": "Incomplete male pseudohermaphroditism", "HP:0008659": "Multiple small medullary renal cysts", "HP:0008660": "Renotubular dysgenesis", "HP:0008661": "Urethral stenosis", "HP:0008663": "Renal sarcoma", "HP:0008664": "Urethral sphincter sclerosis", "HP:0008665": "Clitoral hypertrophy", "HP:0008666": "Impaired histidine renal tubular absorption", "HP:0008668": "Gonadal dysgenesis, male", "HP:0008669": "Abnormal spermatogenesis", "HP:0008670": "Partial vaginal septum", "HP:0008672": "Calcium oxalate nephrolithiasis", "HP:0008675": "Enlarged polycystic ovaries", "HP:0008676": "Congenital megaureter", "HP:0008677": "Congenital nephrotic syndrome", "HP:0008678": "Renal hypoplasia/aplasia", "HP:0008682": "Renal tubular epithelial necrosis", "HP:0008683": "Enlarged labia minora", "HP:0008684": "Aplasia/hypoplasia of the uterus", "HP:0008687": "Hypoplasia of the prostate", "HP:0008689": "Bilateral cryptorchidism", "HP:0008691": "Solitary bladder diverticulum", "HP:0008695": "Transient nephrotic syndrome", "HP:0008696": "Renal hamartoma", "HP:0008697": "Hypoplasia of the fallopian tube", "HP:0008702": "Absent internal genitalia", "HP:0008703": "Gonadal calcification", "HP:0008705": "Ureteral triplication", "HP:0008706": "Distal urethral duplication", "HP:0008707": "Absent scrotum", "HP:0008708": "Partial development of the penile shaft", "HP:0008711": "Benign prostatic hyperplasia", "HP:0008714": "Ureterovesical stenosis", "HP:0008715": "Testicular dysgenesis", "HP:0008716": "Urethrovaginal fistula", "HP:0008717": "Unilateral renal atrophy", "HP:0008718": "Unilateral renal dysplasia", "HP:0008720": "Primary testicular failure", "HP:0008722": "Urethral diverticulum", "HP:0008723": "Gonadal dysgenesis with female appearance, male", "HP:0008724": "Hypoplasia of the ovary", "HP:0008726": "Hypoplasia of the vagina", "HP:0008729": "Absence of labia majora", "HP:0008730": "Female external genitalia in individual with 46,XY karyotype", "HP:0008732": "Renal hypophosphatemia", "HP:0008733": "Dysplastic testes", "HP:0008734": "Decreased testicular size", "HP:0008736": "Hypoplasia of penis", "HP:0008738": "Partially duplicated kidney", "HP:0008739": "Labial pseudohypertrophy", "HP:0008740": "Longitudinal vaginal septum", "HP:0008742": "Prominent prostate median bar", "HP:0008743": "Coronal hypospadias", "HP:0008744": "Abnormal aryepiglottic fold morphology", "HP:0008747": "Cartilaginous ossification of larynx", "HP:0008749": "Laryngeal hypoplasia", "HP:0008750": "Laryngeal atresia", "HP:0008751": "Laryngeal cleft", "HP:0008752": "Laryngeal cartilage malformation", "HP:0008753": "Aplasia of the epiglottis", "HP:0008754": "Laryngeal calcification", "HP:0008755": "Laryngotracheomalacia", "HP:0008756": "Bowing of the vocal cords", "HP:0008757": "Unilateral vocal cord paralysis", "HP:0008760": "Violent behavior", "HP:0008762": "Repetitive compulsive behavior", "HP:0008763": "No social interaction", "HP:0008765": "Auditory hallucinations", "HP:0008767": "Self-mutilation of tongue and lips due to involuntary movements", "HP:0008768": "Inappropriate sexual behavior", "HP:0008770": "Obsessive-compulsive trait", "HP:0008771": "Aplasia/Hypoplasia of the ear", "HP:0008772": "Aplasia/Hypoplasia of the external ear", "HP:0008773": "Aplasia/Hypoplasia of the middle ear", "HP:0008774": "Aplasia/Hypoplasia of the inner ear", "HP:0008775": "Abnormal prostate morphology", "HP:0008776": "Abnormal renal artery morphology", "HP:0008777": "Abnormal vocal cord morphology", "HP:0008780": "Congenital bilateral hip dislocation", "HP:0008783": "Wide proximal femoral metaphysis", "HP:0008784": "Wide capital femoral epiphyses", "HP:0008785": "Delayed ossification of pubic rami", "HP:0008786": "Iliac crest serration", "HP:0008788": "Delayed pubic bone ossification", "HP:0008789": "Cone-shaped capital femoral epiphysis", "HP:0008794": "Dysplastic iliac wing", "HP:0008796": "Femoral retroversion", "HP:0008797": "Early ossification of capital femoral epiphyses", "HP:0008798": "Widened greater sciatic notch", "HP:0008800": "Limited hip movement", "HP:0008801": "Hypoplasia of the lesser trochanter", "HP:0008802": "Hypoplasia of the femoral head", "HP:0008804": "Broad femoral head", "HP:0008807": "Acetabular dysplasia", "HP:0008808": "High iliac wing", "HP:0008812": "Flattened femoral head", "HP:0008817": "Aplastic pubic bone", "HP:0008818": "Large iliac wing", "HP:0008819": "Narrow femoral neck", "HP:0008820": "Absent ossification of capital femoral epiphysis", "HP:0008821": "Hypoplastic inferior ilia", "HP:0008822": "Hypoplastic ischiopubic ramus", "HP:0008823": "Inferior pubic ramus hypoplasia", "HP:0008824": "Hypoplastic iliac body", "HP:0008826": "Dislocation of the femoral head", "HP:0008828": "Delayed proximal femoral epiphyseal ossification", "HP:0008829": "Delayed femoral head ossification", "HP:0008830": "Hypoplastic pubic ramus", "HP:0008833": "Irregular acetabular roof", "HP:0008835": "Multicentric femoral head ossification", "HP:0008838": "Stippled calcification proximal humeral epiphyses", "HP:0008839": "Hypoplastic pelvis", "HP:0008843": "Hip osteoarthritis", "HP:0008845": "Mesomelic short stature", "HP:0008846": "Severe intrauterine growth retardation", "HP:0008848": "Moderately short stature", "HP:0008850": "Severe postnatal growth retardation", "HP:0008855": "Moderate postnatal growth retardation", "HP:0008857": "Neonatal short-trunk short stature", "HP:0008866": "Failure to thrive secondary to recurrent infections", "HP:0008872": "Feeding difficulties in infancy", "HP:0008873": "Disproportionate short-limb short stature", "HP:0008883": "Mild intrauterine growth retardation", "HP:0008887": "Adipose tissue loss", "HP:0008890": "Severe short-limb dwarfism", "HP:0008897": "Postnatal growth retardation", "HP:0008905": "Rhizomelia", "HP:0008909": "Lethal short-limbed short stature", "HP:0008915": "Childhood-onset truncal obesity", "HP:0008921": "Neonatal short-limb short stature", "HP:0008922": "Childhood-onset short-trunk short stature", "HP:0008929": "Asymmetric short stature", "HP:0008935": "Generalized neonatal hypotonia", "HP:0008936": "Axial hypotonia", "HP:0008940": "Generalized lymphadenopathy", "HP:0008942": "Acute rhabdomyolysis", "HP:0008944": "Distal lower limb amyotrophy", "HP:0008945": "Loss of ability to walk in early childhood", "HP:0008946": "Pelvic girdle amyotrophy", "HP:0008947": "Infantile muscular hypotonia", "HP:0008948": "Proximal upper limb amyotrophy", "HP:0008952": "Shoulder muscle hypoplasia", "HP:0008953": "Pectoralis major hypoplasia", "HP:0008954": "Intrinsic hand muscle atrophy", "HP:0008955": "Progressive distal muscular atrophy", "HP:0008956": "Proximal lower limb amyotrophy", "HP:0008959": "Distal upper limb muscle weakness", "HP:0008962": "Calf muscle hypoplasia", "HP:0008963": "Tibialis muscle weakness", "HP:0008964": "Nonprogressive muscular atrophy", "HP:0008967": "Exercise-induced muscle stiffness", "HP:0008968": "Muscle hypertrophy of the lower extremities", "HP:0008969": "Leg muscle stiffness", "HP:0008970": "Scapulohumeral muscular dystrophy", "HP:0008972": "Decreased activity of mitochondrial respiratory chain", "HP:0008978": "Necrotizing myopathy", "HP:0008981": "Calf muscle hypertrophy", "HP:0008984": "Neck muscle hypoplasia", "HP:0008985": "Increased intramuscular fat", "HP:0008986": "Agenesis of the diaphragm", "HP:0008988": "Pelvic girdle muscle atrophy", "HP:0008991": "Exercise-induced leg cramps", "HP:0008993": "Increased intraabdominal fat", "HP:0008994": "Proximal muscle weakness in lower limbs", "HP:0008997": "Proximal muscle weakness in upper limbs", "HP:0008998": "Pectoralis hypoplasia", "HP:0009002": "Loss of truncal subcutaneous adipose tissue", "HP:0009003": "Increased subcutaneous truncal adipose tissue", "HP:0009004": "Hypoplasia of the musculature", "HP:0009005": "Weakness of the intrinsic hand muscles", "HP:0009007": "Biceps hypoplasia", "HP:0009011": "Hypoplasia of serratus anterior muscle", "HP:0009013": "Congenital absence of gluteal muscles", "HP:0009016": "Upper limb muscle hypoplasia", "HP:0009017": "Loss of gluteal subcutaneous adipose tissue", "HP:0009019": "Progressive loss of facial adipose tissue", "HP:0009020": "Exercise-induced muscle fatigue", "HP:0009023": "Abdominal wall muscle weakness", "HP:0009025": "Increased connective tissue", "HP:0009026": "Hypoplasia of latissimus dorsi muscle", "HP:0009027": "Foot dorsiflexor weakness", "HP:0009028": "Generalized weakness of limb muscles", "HP:0009031": "Amyotrophy of ankle musculature", "HP:0009037": "Segmental spinal muscular atrophy", "HP:0009045": "Exercise-induced rhabdomyolysis", "HP:0009046": "Difficulty running", "HP:0009049": "Peroneal muscle atrophy", "HP:0009050": "Quadriceps muscle atrophy", "HP:0009051": "Increased muscle glycogen content", "HP:0009053": "Distal lower limb muscle weakness", "HP:0009054": "Scapuloperoneal myopathy", "HP:0009055": "Generalized limb muscle atrophy", "HP:0009056": "Loss of subcutaneous adipose tissue from upper limbs", "HP:0009058": "Increased muscle lipid content", "HP:0009059": "Congenital generalized lipodystrophy", "HP:0009060": "Scapular muscle atrophy", "HP:0009062": "Infantile axial hypotonia", "HP:0009063": "Progressive distal muscle weakness", "HP:0009064": "Generalized lipodystrophy", "HP:0009067": "Progressive spinal muscular atrophy", "HP:0009069": "Lethal infantile mitochondrial myopathy", "HP:0009071": "Inflammatory myopathy", "HP:0009072": "Decreased Achilles reflex", "HP:0009073": "Progressive proximal muscle weakness", "HP:0009077": "Weakness of long finger extensor muscles", "HP:0009084": "Midline notch of upper alveolar ridge", "HP:0009085": "Alveolar ridge overgrowth", "HP:0009087": "Posteriorly placed tongue", "HP:0009088": "Speech articulation difficulties", "HP:0009092": "Progressive alveolar ridge hypertropy", "HP:0009094": "Cleft lower alveolar ridge", "HP:0009098": "Chronic oral candidiasis", "HP:0009099": "Median cleft palate", "HP:0009100": "Thick anterior alveolar ridges", "HP:0009101": "Submucous cleft lip", "HP:0009102": "Anterior open-bite malocclusion", "HP:0009103": "Aplasia/Hypoplasia involving the pelvis", "HP:0009104": "Aplasia/Hypoplasia of the pubic bone", "HP:0009105": "Abnormal ossification of the pubic bone", "HP:0009106": "Abnormal pelvis bone ossification", "HP:0009107": "Abnormal ossification involving the femoral head and neck", "HP:0009108": "Aplasia/Hypoplasia involving the femoral head and neck", "HP:0009109": "Denervation of the diaphragm", "HP:0009110": "Diaphragmatic eventration", "HP:0009112": "Aplasia of the left hemidiaphragm", "HP:0009113": "Diaphragmatic weakness", "HP:0009115": "Aplasia/hypoplasia involving the skeleton", "HP:0009116": "Aplasia/Hypoplasia involving bones of the skull", "HP:0009117": "Aplasia/Hypoplasia of the maxilla", "HP:0009118": "Aplasia/Hypoplasia of the mandible", "HP:0009119": "Aplasia/Hypoplasia of the frontal sinuses", "HP:0009120": "Aplasia/Hypoplasia involving the sinuses", "HP:0009121": "Abnormal axial skeleton morphology", "HP:0009122": "Aplasia/hypoplasia affecting bones of the axial skeleton", "HP:0009123": "Mixed hypo- and hyperpigmentation of the skin", "HP:0009124": "Abnormal adipose tissue morphology", "HP:0009125": "Lipodystrophy", "HP:0009126": "Increased adipose tissue", "HP:0009127": "Abnormality of the musculature of the limbs", "HP:0009128": "Aplasia/Hypoplasia involving the musculature of the extremities", "HP:0009129": "Upper limb amyotrophy", "HP:0009130": "Hand muscle atrophy", "HP:0009131": "Abnormality of the musculature of the thorax", "HP:0009132": "Abnormal tarsal bone mineral density", "HP:0009134": "Osteolysis involving bones of the feet", "HP:0009136": "Duplication involving bones of the feet", "HP:0009138": "Synostosis involving bones of the lower limbs", "HP:0009139": "Osteolysis involving bones of the lower limbs", "HP:0009140": "Synostosis involving bones of the feet", "HP:0009141": "Depletion of mitochondrial DNA in muscle tissue", "HP:0009142": "Duplication of bones involving the upper extremities", "HP:0009144": "Supernumerary bones of the axial skeleton", "HP:0009145": "Abnormal cerebral artery morphology", "HP:0009147": "Enlarged epiphysis of the distal phalanx of the 5th finger", "HP:0009148": "Small epiphysis of the distal phalanx of the 5th finger", "HP:0009149": "Triangular epiphysis of the distal phalanx of the 5th finger", "HP:0009150": "Abnormality of the proximal phalanx of the 5th finger", "HP:0009152": "Abnormality of the epiphyses of the 5th finger", "HP:0009153": "Abnormality of the epiphysis of the proximal phalanx of the 5th finger", "HP:0009154": "Triangular epiphysis of the proximal phalanx of the 5th finger", "HP:0009155": "Cone-shaped epiphysis of the proximal phalanx of the 5th finger", "HP:0009157": "Ivory epiphysis of the proximal phalanx of the 5th finger", "HP:0009158": "Enlarged epiphysis of the proximal phalanx of the 5th finger", "HP:0009159": "Small epiphysis of the proximal phalanx of the 5th finger", "HP:0009160": "Absent epiphysis of the proximal phalanx of the 5th finger", "HP:0009161": "Aplasia/Hypoplasia of the middle phalanx of the 5th finger", "HP:0009162": "Absent middle phalanx of 5th finger", "HP:0009164": "Abnormal calcification of the carpal bones", "HP:0009165": "Stippling of the epiphysis of the distal phalanx of the 5th finger", "HP:0009166": "Fragmentation of the epiphysis of the distal phalanx of the 5th finger", "HP:0009167": "Irregular epiphysis of the distal phalanx of the 5th finger", "HP:0009168": "Bullet-shaped middle phalanx of the 5th finger", "HP:0009169": "Broad middle phalanx of the 5th finger", "HP:0009170": "Osteolytic defects of the middle phalanx of the 5th finger", "HP:0009171": "Triangular epiphyses of the metacarpals", "HP:0009172": "Abnormal 4th finger phalanx morphology", "HP:0009173": "Curved middle phalanx of the 5th finger", "HP:0009174": "Abnormality of the epiphyses of the 4th finger", "HP:0009175": "Patchy sclerosis of the middle phalanx of the 5th finger", "HP:0009177": "Proximal/middle symphalangism of 5th finger", "HP:0009178": "Symphalangism of middle phalanx of 5th finger", "HP:0009179": "Deviation of the 5th finger", "HP:0009180": "Ulnar deviation of the 5th finger", "HP:0009182": "Triangular shaped middle phalanx of the 5th finger", "HP:0009183": "Joint contracture of the 5th finger", "HP:0009184": "Contracture of the distal interphalangeal joint of the 5th finger", "HP:0009185": "Contracture of the proximal interphalangeal joint of the 5th finger", "HP:0009186": "Contracture of the metacarpophalangeal joint of the 5th finger", "HP:0009187": "Bracket epiphysis of the distal phalanx of the 5th finger", "HP:0009188": "Pseudoepiphysis of the distal phalanx of the 5th finger", "HP:0009189": "Fragmentation of the metacarpal epiphyses", "HP:0009190": "Irregular epiphyses of the metacarpals", "HP:0009191": "Ivory epiphyses of the metacarpals", "HP:0009192": "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger", "HP:0009193": "Pseudoepiphyses of the metacarpals", "HP:0009194": "Small epiphyses of the metacarpals", "HP:0009195": "Epiphyseal stippling of the metacarpals", "HP:0009196": "Absent metacarpal epiphyses", "HP:0009197": "Bracket epiphysis of the proximal phalanx of the 5th finger", "HP:0009198": "Abnormality of the epiphysis of the distal phalanx of the 5th finger", "HP:0009199": "Irregular epiphysis of the proximal phalanx of the 5th finger", "HP:0009200": "Pseudoepiphysis of the proximal phalanx of the 5th finger", "HP:0009201": "Stippling of the epiphysis of the proximal phalanx of the 5th finger", "HP:0009202": "Fragmentation of the epiphysis of the proximal phalanx of the 5th finger", "HP:0009203": "Absent epiphysis of the middle phalanx of the 5th finger", "HP:0009204": "Bracket epiphysis of the middle phalanx of the 5th finger", "HP:0009205": "Cone-shaped epiphysis of the middle phalanx of the 5th finger", "HP:0009206": "Enlarged epiphysis of the middle phalanx of the 5th finger", "HP:0009207": "Fragmentation of the epiphysis of the middle phalanx of the 5th finger", "HP:0009208": "Irregular epiphysis of the middle phalanx of the 5th finger", "HP:0009209": "Ivory epiphysis of the middle phalanx of the 5th finger", "HP:0009210": "Pseudoepiphysis of the middle phalanx of the 5th finger", "HP:0009211": "Small epiphysis of the middle phalanx of the 5th finger", "HP:0009212": "Stippling of the epiphysis of the middle phalanx of the 5th finger", "HP:0009213": "Triangular epiphysis of the middle phalanx of the 5th finger", "HP:0009214": "Absent epiphysis of the middle phalanx of the 4th finger", "HP:0009215": "Bracket epiphysis of the middle phalanx of the 4th finger", "HP:0009216": "Cone-shaped epiphysis of the middle phalanx of the 4th finger", "HP:0009217": "Enlarged epiphysis of the middle phalanx of the 4th finger", "HP:0009218": "Fragmentation of the epiphysis of the middle phalanx of the 4th finger", "HP:0009219": "Irregular epiphysis of the middle phalanx of the 4th finger", "HP:0009220": "Ivory epiphysis of the middle phalanx of the 4th finger", "HP:0009221": "Pseudoepiphysis of the middle phalanx of the 4th finger", "HP:0009222": "Small epiphysis of the middle phalanx of the 4th finger", "HP:0009223": "Stippling of the epiphysis of the middle phalanx of the 4th finger", "HP:0009224": "Triangular epiphysis of the middle phalanx of the 4th finger", "HP:0009225": "Aplasia of the proximal phalanx of the 5th finger", "HP:0009226": "Short proximal phalanx of the 5th finger", "HP:0009227": "Broad proximal phalanx of the 5th finger", "HP:0009228": "Bullet-shaped proximal phalanx of the 5th finger", "HP:0009229": "Curved proximal phalanx of the 5th finger", "HP:0009230": "Osteolytic defects of the proximal phalanx of the 5th finger", "HP:0009231": "Patchy sclerosis of the proximal phalanx of the 5th finger", "HP:0009232": "Symphalangism affecting the proximal phalanx of the 5th finger", "HP:0009233": "Triangular shaped proximal phalanx of the 5th finger", "HP:0009234": "Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal", "HP:0009236": "Rhomboid or triangular shaped 5th finger proximal phalanx", "HP:0009237": "Short 5th finger", "HP:0009238": "Aplasia of the 5th finger", "HP:0009239": "Aplasia/Hypoplasia of the distal phalanx of the 5th finger", "HP:0009240": "Broad distal phalanx of the 5th finger", "HP:0009241": "Bullet-shaped distal phalanx of the 5th finger", "HP:0009242": "Osteolytic defects of the distal phalanx of the 5th finger", "HP:0009243": "Patchy sclerosis of the distal phalanx of the 5th finger", "HP:0009244": "Distal/middle symphalangism of 5th finger", "HP:0009245": "Triangular shaped distal phalanx of the 5th finger", "HP:0009246": "Aplasia of the distal phalanx of the 5th finger", "HP:0009247": "Abnormality of the epiphysis of the middle phalanx of the 4th finger", "HP:0009248": "Abnormality of the epiphysis of the proximal phalanx of the 4th finger", "HP:0009249": "Abnormality of the epiphysis of the distal phalanx of the 4th finger", "HP:0009250": "Absent epiphysis of the distal phalanx of the 4th finger", "HP:0009251": "Bracket epiphysis of the distal phalanx of the 4th finger", "HP:0009252": "Cone-shaped epiphysis of the distal phalanx of the 4th finger", "HP:0009253": "Enlarged epiphysis of the distal phalanx of the 4th finger", "HP:0009254": "Fragmentation of the epiphysis of the distal phalanx of the 4th finger", "HP:0009255": "Irregular epiphysis of the distal phalanx of the 4th finger", "HP:0009256": "Ivory epiphysis of the distal phalanx of the 4th finger", "HP:0009257": "Pseudoepiphysis of the distal phalanx of the 4th finger", "HP:0009258": "Small epiphysis of the distal phalanx of the 4th finger", "HP:0009259": "Stippling of the epiphysis of the distal phalanx of the 4th finger", "HP:0009260": "Triangular epiphysis of the distal phalanx of the 4th finger", "HP:0009261": "Absent epiphysis of the proximal phalanx of the 4th finger", "HP:0009262": "Bracket epiphysis of the proximal phalanx of the 4th finger", "HP:0009263": "Cone-shaped epiphysis of the proximal phalanx of the 4th finger", "HP:0009264": "Enlarged epiphysis of the proximal phalanx of the 4th finger", "HP:0009265": "Fragmentation of the epiphysis of the proximal phalanx of the 4th finger", "HP:0009266": "Irregular epiphysis of the proximal phalanx of the 4th finger", "HP:0009267": "Ivory epiphysis of the proximal phalanx of the 4th finger", "HP:0009268": "Pseudoepiphysis of the proximal phalanx of the 4th finger", "HP:0009269": "Small epiphysis of the proximal phalanx of the 4th finger", "HP:0009270": "Stippling of the epiphysis of the proximal phalanx of the 4th finger", "HP:0009271": "Triangular epiphysis of the proximal phalanx of the 4th finger", "HP:0009272": "Aplasia/Hypoplasia of the 4th finger", "HP:0009273": "Deviation of the 4th finger", "HP:0009274": "Joint contracture of the 4th finger", "HP:0009275": "Contracture of the distal interphalangeal joint of the 4th finger", "HP:0009276": "Contracture of the proximal interphalangeal joint of the 4th finger", "HP:0009277": "Contracture of the metacarpophalangeal joint of the 4th finger", "HP:0009278": "Ulnar deviation of the 4th finger", "HP:0009279": "Radial deviation of the 4th finger", "HP:0009280": "Short 4th finger", "HP:0009281": "Aplasia of the 4th finger", "HP:0009282": "Abnormality of the distal phalanx of the 4th finger", "HP:0009283": "Abnormality of the middle phalanx of the 4th finger", "HP:0009284": "Abnormality of the proximal phalanx of the 4th finger", "HP:0009285": "Curved phalanges of the 4th finger", "HP:0009286": "Curved distal phalanx of the 4th finger", "HP:0009287": "Curved middle phalanx of the 4th finger", "HP:0009288": "Curved proximal phalanx of the 4th finger", "HP:0009289": "Aplasia/Hypoplasia of the distal phalanx of the 4th finger", "HP:0009290": "Short distal phalanx of the 4th finger", "HP:0009291": "Aplasia of the distal phalanx of the 4th finger", "HP:0009292": "Broad distal phalanx of the 4th finger", "HP:0009293": "Broad middle phalanx of the 4th finger", "HP:0009294": "Absent middle phalanx of 4th finger", "HP:0009295": "Short middle phalanx of the 4th finger", "HP:0009296": "Bullet-shaped middle phalanx of the 4th finger", "HP:0009297": "Osteolytic defects of the middle phalanx of the 4th finger", "HP:0009298": "Aplasia of the proximal phalanx of the 4th finger", "HP:0009299": "Aplasia/Hypoplasia of the middle phalanx of the 4th finger", "HP:0009300": "Aplasia/Hypoplasia of the proximal phalanx of the 4th finger", "HP:0009301": "Short proximal phalanx of the 4th finger", "HP:0009302": "Bullet-shaped distal phalanx of the 4th finger", "HP:0009303": "Osteolytic defects of the distal phalanx of the 4th finger", "HP:0009304": "Patchy sclerosis of the distal phalanx of the 4th finger", "HP:0009305": "Distal/middle symphalangism of 4th finger", "HP:0009306": "Triangular shaped distal phalanx of the 4th finger", "HP:0009307": "Patchy sclerosis of the middle phalanx of the 4th finger", "HP:0009308": "Symphalangism of middle phalanx of 4th finger", "HP:0009309": "Triangular shaped middle phalanx of the 4th finger", "HP:0009310": "Broad proximal phalanx of the 4th finger", "HP:0009311": "Bullet-shaped proximal phalanx of the 4th finger", "HP:0009312": "Osteolytic defects of the proximal phalanx of the 4th finger", "HP:0009313": "Patchy sclerosis of the proximal phalanx of the 4th finger", "HP:0009314": "Symphalangism affecting the proximal phalanx of the 4th finger", "HP:0009315": "Triangular shaped proximal phalanx of the 4th finger", "HP:0009316": "Abnormal 3rd finger phalanx morphology", "HP:0009317": "Deviation of the 3rd finger", "HP:0009318": "Aplasia/Hypoplasia of the 3rd finger", "HP:0009319": "Joint contracture of the 3rd finger", "HP:0009320": "Abnormality of the epiphyses of the 3rd finger", "HP:0009321": "Absent epiphysis of the middle phalanx of the 3rd finger", "HP:0009322": "Bracket epiphysis of the middle phalanx of the 3rd finger", "HP:0009323": "Cone-shaped epiphysis of the middle phalanx of the 3rd finger", "HP:0009324": "Enlarged epiphysis of the middle phalanx of the 3rd finger", "HP:0009325": "Fragmentation of the epiphysis of the middle phalanx of the 3rd finger", "HP:0009326": "Irregular epiphysis of the middle phalanx of the 3rd finger", "HP:0009327": "Ivory epiphysis of the middle phalanx of the 3rd finger", "HP:0009328": "Pseudoepiphysis of the middle phalanx of the 3rd finger", "HP:0009329": "Small epiphysis of the middle phalanx of the 3rd finger", "HP:0009330": "Stippling of the epiphysis of the middle phalanx of the 3rd finger", "HP:0009331": "Triangular epiphysis of the middle phalanx of the 3rd finger", "HP:0009332": "Abnormality of the epiphysis of the distal phalanx of the 3rd finger", "HP:0009333": "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger", "HP:0009334": "Abnormality of the epiphysis of the middle phalanx of the 3rd finger", "HP:0009335": "Absent epiphysis of the distal phalanx of the 3rd finger", "HP:0009336": "Bracket epiphysis of the distal phalanx of the 3rd finger", "HP:0009337": "Cone-shaped epiphysis of the distal phalanx of the 3rd finger", "HP:0009338": "Enlarged epiphysis of the distal phalanx of the 3rd finger", "HP:0009339": "Fragmentation of the epiphysis of the distal phalanx of the 3rd finger", "HP:0009340": "Irregular epiphysis of the distal phalanx of the 3rd finger", "HP:0009341": "Ivory epiphysis of the distal phalanx of the 3rd finger", "HP:0009342": "Pseudoepiphysis of the distal phalanx of the 3rd finger", "HP:0009343": "Small epiphysis of the distal phalanx of the 3rd finger", "HP:0009344": "Stippling of the epiphysis of the distal phalanx of the 3rd finger", "HP:0009345": "Triangular epiphysis of the distal phalanx of the 3rd finger", "HP:0009346": "Absent epiphysis of the proximal phalanx of the 3rd finger", "HP:0009347": "Bracket epiphysis of the proximal phalanx of the 3rd finger", "HP:0009348": "Cone-shaped epiphysis of the proximal phalanx of the 3rd finger", "HP:0009349": "Enlarged epiphysis of the proximal phalanx of the 3rd finger", "HP:0009350": "Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger", "HP:0009351": "Irregular epiphysis of the proximal phalanx of the 3rd finger", "HP:0009352": "Ivory epiphysis of the proximal phalanx of the 3rd finger", "HP:0009353": "Pseudoepiphysis of the proximal phalanx of the 3rd finger", "HP:0009354": "Small epiphysis of the proximal phalanx of the 3rd finger", "HP:0009355": "Stippling of the epiphysis of the proximal phalanx of the 3rd finger", "HP:0009356": "Triangular epiphysis of the proximal phalanx of the 3rd finger", "HP:0009357": "Abnormality of the distal phalanx of the 3rd finger", "HP:0009358": "Abnormality of the proximal phalanx of the 3rd finger", "HP:0009370": "Type A brachydactyly", "HP:0009371": "Type A1 brachydactyly", "HP:0009372": "Type A2 brachydactyly", "HP:0009373": "Type C brachydactyly", "HP:0009374": "Broad phalanges of the 5th finger", "HP:0009375": "Bullet-shaped phalanges of the 5th finger", "HP:0009376": "Aplasia/Hypoplasia of the phalanges of the 5th finger", "HP:0009377": "Patchy sclerosis of 5th finger phalanx", "HP:0009378": "Triangular shaped phalanges of the 5th finger", "HP:0009379": "Rhomboid or triangular shaped 5th finger distal phalanx", "HP:0009380": "Aplasia of the fingers", "HP:0009381": "Short finger", "HP:0009382": "Absent epiphyses of the 5th finger", "HP:0009383": "Bracket epiphyses of the 5th finger", "HP:0009384": "Cone-shaped epiphyses of the 5th finger", "HP:0009385": "Enlarged epiphyses of the 5th finger", "HP:0009386": "Fragmentation of the epiphyses of the 5th finger", "HP:0009387": "Irregular epiphyses of the 5th finger", "HP:0009388": "Ivory epiphyses of the 5th finger", "HP:0009389": "Pseudoepiphyses of the 5th finger", "HP:0009390": "Small epiphyses of the 5th finger", "HP:0009391": "Stippling of the epiphyses of the 5th finger", "HP:0009392": "Triangular epiphyses of the 5th finger", "HP:0009393": "Absent epiphyses of the 4th finger", "HP:0009394": "Bracket epiphyses of the 4th finger", "HP:0009395": "Cone-shaped epiphyses of the 4th finger", "HP:0009396": "Enlarged epiphyses of the 4th finger", "HP:0009397": "Fragmentation of the epiphyses of the 4th finger", "HP:0009398": "Irregular epiphyses of the 4th finger", "HP:0009399": "Ivory epiphyses of the 4th finger", "HP:0009400": "Pseudoepiphyses of the 4th finger", "HP:0009401": "Small epiphyses of the 4th finger", "HP:0009402": "Stippling of the epiphyses of the 4th finger", "HP:0009403": "Triangular epiphyses of the 4th finger", "HP:0009404": "Broad phalanges of the 4th finger", "HP:0009405": "Bullet-shaped phalanges of the 4th finger", "HP:0009406": "Patchy sclerosis of 4th finger phalanx", "HP:0009407": "Triangular shaped phalanges of the 4th finger", "HP:0009408": "Aplasia/Hypoplasia of the phalanges of the 4th finger", "HP:0009410": "Absent epiphyses of the 3rd finger", "HP:0009411": "Bracket epiphyses of the 3rd finger", "HP:0009412": "Cone-shaped epiphyses of the 3rd finger", "HP:0009413": "Enlarged epiphyses of the 3rd finger", "HP:0009414": "Fragmentation of the epiphyses of the 3rd finger", "HP:0009415": "Irregular epiphyses of the 3rd finger", "HP:0009416": "Ivory epiphyses of the 3rd finger", "HP:0009417": "Pseudoepiphyses of the 3rd finger", "HP:0009418": "Small epiphyses of the 3rd finger", "HP:0009419": "Stippling of the epiphyses of the 3rd finger", "HP:0009420": "Triangular epiphyses of the 3rd finger", "HP:0009421": "Aplasia/Hypoplasia of the distal phalanx of the 3rd finger", "HP:0009422": "Broad distal phalanx of the 3rd finger", "HP:0009423": "Bullet-shaped distal phalanx of the 3rd finger", "HP:0009424": "Osteolytic defects of the distal phalanx of the 3rd finger", "HP:0009425": "Patchy sclerosis of the distal phalanx of the 3rd finger", "HP:0009426": "Distal/middle symphalangism of 3rd finger", "HP:0009427": "Triangular shaped distal phalanx of the 3rd finger", "HP:0009428": "Curved distal phalanx of the 3rd finger", "HP:0009429": "Aplasia of the distal phalanx of the 3rd finger", "HP:0009430": "Broad middle phalanx of the 3rd finger", "HP:0009431": "Bullet-shaped middle phalanx of the 3rd finger", "HP:0009432": "Curved middle phalanx of the 3rd finger", "HP:0009433": "Osteolytic defects of the middle phalanx of the 3rd finger", "HP:0009434": "Patchy sclerosis of the middle phalanx of the 3rd finger", "HP:0009435": "Symphalangism of middle phalanx of 3rd finger", "HP:0009436": "Triangular shaped middle phalanx of the 3rd finger", "HP:0009437": "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger", "HP:0009438": "Absent middle phalanx of 3rd finger", "HP:0009439": "Short middle phalanx of the 3rd finger", "HP:0009440": "Broad phalanges of the 3rd finger", "HP:0009441": "Bullet-shaped phalanges of the 3rd finger", "HP:0009442": "Curved phalanges of the 3rd finger", "HP:0009443": "Osteolytic defects of the phalanges of the 3rd finger", "HP:0009444": "Patchy sclerosis of 3rd finger phalanx", "HP:0009445": "Symphalangism of the 3rd finger", "HP:0009446": "Triangular shaped phalanges of the 3rd finger", "HP:0009447": "Aplasia/Hypoplasia of the phalanges of the 3rd finger", "HP:0009450": "Broad proximal phalanx of the 3rd finger", "HP:0009451": "Bullet-shaped proximal phalanx of the 3rd finger", "HP:0009452": "Curved proximal phalanx of the 3rd finger", "HP:0009453": "Osteolytic defects of the proximal phalanx of the 3rd finger", "HP:0009454": "Patchy sclerosis of the proximal phalanx of the 3rd finger", "HP:0009455": "Symphalangism affecting the proximal phalanx of the 3rd finger", "HP:0009456": "Triangular shaped proximal phalanx of the 3rd finger", "HP:0009457": "Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger", "HP:0009458": "Aplasia of the proximal phalanx of the 3rd finger", "HP:0009459": "Short proximal phalanx of the 3rd finger", "HP:0009460": "Aplasia of the 3rd finger", "HP:0009461": "Short 3rd finger", "HP:0009462": "Radial deviation of the 3rd finger", "HP:0009463": "Ulnar deviation of the 3rd finger", "HP:0009464": "Ulnar deviation of the 2nd finger", "HP:0009465": "Ulnar deviation of finger", "HP:0009466": "Radial deviation of finger", "HP:0009467": "Radial deviation of the 2nd finger", "HP:0009468": "Deviation of the 2nd finger", "HP:0009469": "Contracture of the distal interphalangeal joint of the 3rd finger", "HP:0009470": "Contracture of the metacarpophalangeal joint of the 3rd finger", "HP:0009471": "Contracture of the proximal interphalangeal joint of the 3rd finger", "HP:0009473": "Joint contracture of the hand", "HP:0009477": "Proximal/middle symphalangism of 4th finger", "HP:0009478": "Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal", "HP:0009482": "Proximal/middle symphalangism of 3rd finger", "HP:0009483": "Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal", "HP:0009484": "Deviation of the hand or of fingers of the hand", "HP:0009485": "Radial deviation of the hand or of fingers of the hand", "HP:0009486": "Radial deviation of the hand", "HP:0009487": "Ulnar deviation of the hand", "HP:0009488": "Absent epiphyses of the 2nd finger", "HP:0009489": "Bracket epiphyses of the 2nd finger", "HP:0009490": "Cone-shaped epiphyses of the 2nd finger", "HP:0009491": "Enlarged epiphyses of the 2nd finger", "HP:0009492": "Fragmentation of the epiphyses of the 2nd finger", "HP:0009493": "Irregular epiphyses of the 2nd finger", "HP:0009494": "Ivory epiphyses of the 2nd finger", "HP:0009495": "Pseudoepiphysis of the 2nd finger", "HP:0009496": "Small epiphyses of the 2nd finger", "HP:0009497": "Stippling of the epiphyses of the 2nd finger", "HP:0009498": "Triangular epiphyses of the 2nd finger", "HP:0009499": "Abnormality of the epiphysis of the distal phalanx of the 2nd finger", "HP:0009500": "Abnormality of the epiphysis of the middle phalanx of the 2nd finger", "HP:0009501": "Abnormality of the epiphysis of the proximal phalanx of the 2nd finger", "HP:0009502": "Absent epiphysis of the distal phalanx of the 2nd finger", "HP:0009503": "Bracket epiphysis of the distal phalanx of the 2nd finger", "HP:0009504": "Cone-shaped epiphysis of the distal phalanx of the 2nd finger", "HP:0009505": "Enlarged epiphysis of the distal phalanx of the 2nd finger", "HP:0009506": "Fragmentation of the epiphysis of the distal phalanx of the 2nd finger", "HP:0009507": "Irregular epiphysis of the distal phalanx of the 2nd finger", "HP:0009508": "Ivory epiphysis of the distal phalanx of the 2nd finger", "HP:0009509": "Pseudoepiphysis of the distal phalanx of the 2nd finger", "HP:0009510": "Small epiphysis of the distal phalanx of the 2nd finger", "HP:0009511": "Stippling of the epiphysis of the distal phalanx of the 2nd finger", "HP:0009512": "Triangular epiphysis of the distal phalanx of the 2nd finger", "HP:0009513": "Absent epiphysis of the middle phalanx of the 2nd finger", "HP:0009514": "Bracket epiphysis of the middle phalanx of the 2nd finger", "HP:0009515": "Cone-shaped epiphysis of the middle phalanx of the 2nd finger", "HP:0009516": "Enlarged epiphysis of the middle phalanx of the 2nd finger", "HP:0009517": "Fragmentation of the epiphysis of the middle phalanx of the 2nd finger", "HP:0009518": "Irregular epiphysis of the middle phalanx of the 2nd finger", "HP:0009519": "Ivory epiphysis of the middle phalanx of the 2nd finger", "HP:0009520": "Pseudoepiphysis of the middle phalanx of the 2nd finger", "HP:0009521": "Small epiphysis of the middle phalanx of the 2nd finger", "HP:0009522": "Stippling of the epiphysis of the middle phalanx of the 2nd finger", "HP:0009523": "Triangular epiphysis of the middle phalanx of the 2nd finger", "HP:0009524": "Absent epiphysis of the proximal phalanx of the 2nd finger", "HP:0009525": "Bracket epiphysis of the proximal phalanx of the 2nd finger", "HP:0009526": "Cone-shaped epiphysis of the proximal phalanx of the 2nd finger", "HP:0009527": "Enlarged epiphysis of the proximal phalanx of the 2nd finger", "HP:0009528": "Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger", "HP:0009529": "Irregular epiphysis of the proximal phalanx of the 2nd finger", "HP:0009530": "Ivory epiphysis of the proximal phalanx of the 2nd finger", "HP:0009531": "Pseudoepiphysis of the proximal phalanx of the 2nd finger", "HP:0009532": "Small epiphysis of the proximal phalanx of the 2nd finger", "HP:0009533": "Stippling of the epiphysis of the proximal phalanx of the 2nd finger", "HP:0009534": "Triangular epiphysis of the proximal phalanx of the 2nd finger", "HP:0009535": "Aplasia of the 2nd finger", "HP:0009536": "Short 2nd finger", "HP:0009537": "Flexion contracture of the 2nd finger", "HP:0009538": "Contracture of the distal interphalangeal joint of the 2nd finger", "HP:0009539": "Contracture of the metacarpophalangeal joint of the 2nd finger", "HP:0009540": "Contracture of the proximal interphalangeal joint of the 2nd finger", "HP:0009541": "Abnormality of the phalanges of the 2nd finger", "HP:0009542": "Abnormality of the distal phalanx of the 2nd finger", "HP:0009543": "Abnormality of the middle phalanx of the 2nd finger", "HP:0009544": "Abnormality of the proximal phalanx of the 2nd finger", "HP:0009545": "Symphalangism of the 2nd finger", "HP:0009546": "Triangular shaped phalanges of the 2nd finger", "HP:0009547": "Broad phalanges of the 2nd finger", "HP:0009548": "Bullet-shaped phalanges of the 2nd finger", "HP:0009549": "Curved phalanges of the 2nd finger", "HP:0009550": "Osteolytic defects of the phalanges of the 2nd finger", "HP:0009551": "Patchy sclerosis of 2nd finger phalanx", "HP:0009552": "Aplasia/Hypoplasia of the phalanges of the 2nd finger", "HP:0009553": "Abnormality of the hairline", "HP:0009554": "Preauricular hair displacement", "HP:0009555": "Hypoplasia of the pharynx", "HP:0009556": "Absent tibia", "HP:0009557": "Aplasia/Hypoplasia of the distal phalanx of the 2nd finger", "HP:0009558": "Broad distal phalanx of the 2nd finger", "HP:0009559": "Bullet-shaped distal phalanx of the 2nd finger", "HP:0009560": "Curved distal phalanx of the 2nd finger", "HP:0009561": "Osteolytic defects of the distal phalanx of the 2nd finger", "HP:0009562": "Patchy sclerosis of the distal phalanx of the 2nd finger", "HP:0009563": "Distal/middle symphalangism of 2nd finger", "HP:0009564": "Triangular shaped distal phalanx of the 2nd finger", "HP:0009565": "Aplasia of the distal phalanx of the 2nd finger", "HP:0009566": "Short distal phalanx of the 2nd finger", "HP:0009568": "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger", "HP:0009569": "Broad middle phalanx of the 2nd finger", "HP:0009570": "Bullet-shaped middle phalanx of the 2nd finger", "HP:0009571": "Curved middle phalanx of the 2nd finger", "HP:0009572": "Osteolytic defects of the middle phalanx of the 2nd finger", "HP:0009573": "Patchy sclerosis of the middle phalanx of the 2nd finger", "HP:0009574": "Symphalangism of middle phalanx of 2nd finger", "HP:0009575": "Triangular shaped middle phalanx of the 2nd finger", "HP:0009576": "Absent middle phalanx of 2nd finger", "HP:0009577": "Short middle phalanx of the 2nd finger", "HP:0009579": "Proximal/middle symphalangism of the 2nd finger", "HP:0009580": "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger", "HP:0009581": "Broad proximal phalanx of the 2nd finger", "HP:0009582": "Bullet-shaped proximal phalanx of the 2nd finger", "HP:0009583": "Curved proximal phalanx of the 2nd finger", "HP:0009584": "Osteolytic defects of the proximal phalanx of the 2nd finger", "HP:0009585": "Patchy sclerosis of the proximal phalanx of the 2nd finger", "HP:0009586": "Symphalangism affecting the proximal phalanx of the 2nd finger", "HP:0009587": "Triangular shaped proximal phalanx of the 2nd finger", "HP:0009588": "Vestibular schwannoma", "HP:0009589": "Bilateral vestibular schwannoma", "HP:0009590": "Unilateral vestibular schwannoma", "HP:0009591": "Abnormality of the vestibulocochlear nerve", "HP:0009592": "Astrocytoma", "HP:0009593": "Peripheral schwannoma", "HP:0009594": "Retinal hamartoma", "HP:0009595": "Occasional neurofibromas", "HP:0009596": "Aplasia of the proximal phalanx of the 2nd finger", "HP:0009597": "Short proximal phalanx of the 2nd finger", "HP:0009598": "Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal", "HP:0009599": "Abnormality of thumb epiphysis", "HP:0009600": "Contracture of thumb", "HP:0009601": "Aplasia/Hypoplasia of the thumb", "HP:0009602": "Abnormality of thumb phalanx", "HP:0009603": "Deviation of the thumb", "HP:0009606": "Complete duplication of distal phalanx of the thumb", "HP:0009608": "Complete duplication of proximal phalanx of the thumb", "HP:0009609": "Duplication of the 1st metacarpal", "HP:0009611": "Bifid distal phalanx of the thumb", "HP:0009612": "Duplication of the distal phalanx of the thumb", "HP:0009613": "Duplication of the proximal phalanx of the thumb", "HP:0009614": "Bifid proximal phalanx of the thumb", "HP:0009615": "Complete duplication of the first metacarpal", "HP:0009616": "Bifid first metacarpal", "HP:0009617": "Abnormality of the distal phalanx of the thumb", "HP:0009618": "Abnormality of the proximal phalanx of the thumb", "HP:0009622": "Distally placed thumb", "HP:0009623": "Proximal placement of thumb", "HP:0009624": "Carpometacarpal thumb joint contracture", "HP:0009625": "Metacarpophalangeal thumb joint contracture", "HP:0009626": "Interphalangeal thumb joint contracture", "HP:0009629": "Aplasia/Hypoplasia of the proximal phalanx of the thumb", "HP:0009630": "Broad proximal phalanx of the thumb", "HP:0009631": "Bullet-shaped proximal phalanx of the thumb", "HP:0009632": "Curved proximal phalanx of the thumb", "HP:0009633": "Osteolytic defect of the proximal phalanx of the thumb", "HP:0009634": "Patchy sclerosis of the proximal phalanx of the thumb", "HP:0009635": "Synostosis of thumb phalanx", "HP:0009636": "Triangular shaped proximal phalanx of the thumb", "HP:0009637": "Absent proximal phalanx of thumb", "HP:0009638": "Short proximal phalanx of thumb", "HP:0009640": "Synostosis of the proximal phalanx of the thumb with the 1st metacarpal", "HP:0009641": "Aplasia/Hypoplasia of the distal phalanx of the thumb", "HP:0009642": "Broad distal phalanx of the thumb", "HP:0009643": "Bullet-shaped distal phalanx of the thumb", "HP:0009644": "Curved distal phalanx of the thumb", "HP:0009645": "Osteolytic defect of the distal phalanx of the thumb", "HP:0009646": "Patchy sclerosis of the distal phalanx of the thumb", "HP:0009648": "Triangular shaped distal phalanx of the thumb", "HP:0009649": "Aplasia of the distal phalanx of the thumb", "HP:0009650": "Short distal phalanx of the thumb", "HP:0009652": "Bullet-shaped thumb phalanx", "HP:0009653": "Curved thumb phalanx", "HP:0009654": "Osteolytic defect of thumb phalanx", "HP:0009655": "Patchy sclerosis of thumb phalanx", "HP:0009656": "Symphalangism of the thumb", "HP:0009657": "Triangular shaped thumb phalanx", "HP:0009658": "Aplasia/Hypoplasia of the phalanges of the thumb", "HP:0009659": "Partial absence of thumb", "HP:0009660": "Short phalanx of the thumb", "HP:0009662": "Abnormality of the epiphysis of the distal phalanx of the thumb", "HP:0009663": "Abnormality of the epiphysis of the proximal phalanx of the thumb", "HP:0009664": "Absent epiphysis of the proximal phalanx of the thumb", "HP:0009665": "Bracket epiphysis of the proximal phalanx of the thumb", "HP:0009666": "Cone-shaped epiphysis of the proximal phalanx of the thumb", "HP:0009667": "Enlarged epiphysis of the proximal phalanx of the thumb", "HP:0009668": "Fragmentation of the epiphysis of the proximal phalanx of the thumb", "HP:0009669": "Irregular epiphysis of the proximal phalanx of the thumb", "HP:0009670": "Ivory epiphysis of the proximal phalanx of the thumb", "HP:0009671": "Pseudoepiphysis of the proximal phalanx of the thumb", "HP:0009672": "Small epiphysis of the proximal phalanx of the thumb", "HP:0009673": "Stippling of the epiphysis of the proximal phalanx of the thumb", "HP:0009674": "Triangular epiphysis of the proximal phalanx of the thumb", "HP:0009675": "Absent epiphysis of the distal phalanx of the thumb", "HP:0009676": "Bracket epiphysis of the distal phalanx of the thumb", "HP:0009677": "Cone-shaped epiphysis of the distal phalanx of the thumb", "HP:0009678": "Enlarged epiphysis of the distal phalanx of the thumb", "HP:0009679": "Fragmentation of the epiphysis of the distal phalanx of the thumb", "HP:0009680": "Irregular epiphysis of the distal phalanx of the thumb", "HP:0009681": "Ivory epiphysis of the distal phalanx of the thumb", "HP:0009682": "Pseudoepiphysis of the distal phalanx of the thumb", "HP:0009683": "Small epiphysis of the distal phalanx of the thumb", "HP:0009684": "Stippling of the epiphysis of the distal phalanx of the thumb", "HP:0009685": "Triangular epiphysis of the distal phalanx of the thumb", "HP:0009686": "Absent epiphyses of the thumb", "HP:0009687": "Bracket epiphyses of the thumb", "HP:0009688": "Cone-shaped epiphysis of the thumb", "HP:0009689": "Enlarged thumb epiphysis", "HP:0009690": "Fragmentation of thumb epiphysis", "HP:0009691": "Irregular thumb epiphysis", "HP:0009692": "Ivory epiphysis of the thumb", "HP:0009693": "Pseudoepiphysis of the thumb", "HP:0009694": "Small thumb epiphysis", "HP:0009695": "Stippling of thumb epiphysis", "HP:0009696": "Triangular epiphyses of the thumb", "HP:0009697": "Contracture of the distal interphalangeal joint of the fingers", "HP:0009699": "Osteolytic defects of the hand bones", "HP:0009700": "Finger symphalangism", "HP:0009701": "Metacarpal synostosis", "HP:0009702": "Carpal synostosis", "HP:0009703": "Synostosis involving the 1st metacarpal", "HP:0009704": "Chronic CSF lymphocytosis", "HP:0009705": "Synostosis involving the 2nd metacarpal", "HP:0009706": "Synostosis involving the 3rd metacarpal", "HP:0009707": "Synostosis involving the 4th metacarpal", "HP:0009708": "Synostosis involving the 5th metacarpal", "HP:0009709": "Increased CSF interferon alpha", "HP:0009710": "Chilblains", "HP:0009711": "Retinal capillary hemangioma", "HP:0009713": "Spinal hemangioblastoma", "HP:0009714": "Abnormal epididymis morphology", "HP:0009715": "Papillary cystadenoma of the epididymis", "HP:0009716": "Subependymal nodules", "HP:0009717": "Cortical tubers", "HP:0009718": "Subependymal giant-cell astrocytoma", "HP:0009719": "Hypomelanotic macule", "HP:0009720": "Adenoma sebaceum", "HP:0009721": "Shagreen patch", "HP:0009722": "Dental enamel pits", "HP:0009723": "Abnormality of the subungual region", "HP:0009724": "Subungual fibromas", "HP:0009725": "Bladder neoplasm", "HP:0009726": "Renal neoplasm", "HP:0009727": "Achromatic retinal patches", "HP:0009728": "Neoplasm of striated muscle", "HP:0009729": "Cardiac rhabdomyoma", "HP:0009730": "Rhabdomyoma", "HP:0009731": "Cerebral hamartoma", "HP:0009732": "Plexiform neurofibroma", "HP:0009733": "Glioma", "HP:0009734": "Optic nerve glioma", "HP:0009735": "Spinal neurofibroma", "HP:0009736": "Tibial pseudarthrosis", "HP:0009737": "Lisch nodules", "HP:0009738": "Abnormal antihelix morphology", "HP:0009739": "Hypoplasia of the antihelix", "HP:0009740": "Aplasia of the parotid gland", "HP:0009741": "Nephrosclerosis", "HP:0009742": "Stiff shoulders", "HP:0009743": "Distichiasis", "HP:0009744": "Abnormal spinal dura mater morphology", "HP:0009745": "Spinal arachnoid cyst", "HP:0009746": "Thick nasal septum", "HP:0009747": "Lumbosacral hirsutism", "HP:0009748": "Large earlobe", "HP:0009751": "Aplasia of the pectoralis major muscle", "HP:0009752": "Cleft in skull base", "HP:0009754": "Fibrous syngnathia", "HP:0009755": "Ankyloblepharon", "HP:0009756": "Popliteal pterygium", "HP:0009757": "Intercrural pterygium", "HP:0009758": "Pyramidal skinfold extending from the base to the top of the nails", "HP:0009759": "Neck pterygia", "HP:0009760": "Antecubital pterygium", "HP:0009761": "Anterior clefting of vertebral bodies", "HP:0009762": "Facial wrinkling", "HP:0009763": "Limb pain", "HP:0009765": "Low hanging columella", "HP:0009767": "Aplasia/Hypoplasia of the phalanges of the hand", "HP:0009768": "Broad phalanges of the hand", "HP:0009769": "Bullet-shaped phalanges of the hand", "HP:0009770": "Curved phalanges of the hand", "HP:0009771": "Osteolytic defects of the phalanges of the hand", "HP:0009772": "Patchy sclerosis of finger phalanx", "HP:0009773": "Symphalangism affecting the phalanges of the hand", "HP:0009774": "Triangular shaped phalanges of the hand", "HP:0009775": "Amniotic constriction ring", "HP:0009776": "Adactyly", "HP:0009777": "Absent thumb", "HP:0009778": "Short thumb", "HP:0009779": "3-4 toe syndactyly", "HP:0009780": "Iliac horns", "HP:0009781": "Lester's sign", "HP:0009782": "Aplasia/Hypoplasia of the biceps", "HP:0009783": "Biceps aplasia", "HP:0009784": "Aplasia/Hypoplasia of the triceps", "HP:0009785": "Triceps aplasia", "HP:0009786": "Aplasia/Hypoplasia of the musculature of the thigh", "HP:0009787": "Aplasia/Hypoplasia of the quadriceps", "HP:0009788": "Quadriceps aplasia", "HP:0009789": "Perianal abscess", "HP:0009790": "Hemisacrum", "HP:0009791": "Bifid sacrum", "HP:0009792": "Teratoma", "HP:0009793": "Presacral teratoma", "HP:0009794": "Branchial anomaly", "HP:0009795": "Branchial fistula", "HP:0009796": "Branchial cyst", "HP:0009797": "Cholesteatoma", "HP:0009798": "Euthyroid goiter", "HP:0009799": "Supernumerary spleens", "HP:0009800": "Maternal diabetes", "HP:0009802": "Aplasia of the phalanges of the hand", "HP:0009803": "Short phalanx of finger", "HP:0009804": "Tooth agenesis", "HP:0009805": "Low-output congestive heart failure", "HP:0009806": "Nephrogenic diabetes insipidus", "HP:0009808": "Anomaly of the upper limb diaphyses", "HP:0009809": "Abnormal upper limb metaphysis morphology", "HP:0009810": "Abnormality of upper limb joint", "HP:0009811": "Abnormality of the elbow", "HP:0009812": "Amelia involving the upper limbs", "HP:0009813": "Upper limb phocomelia", "HP:0009814": "Upper limb peromelia", "HP:0009815": "Aplasia/hypoplasia of the extremities", "HP:0009816": "Lower limb undergrowth", "HP:0009817": "Aplasia involving bones of the lower limbs", "HP:0009818": "Amelia involving the lower limbs", "HP:0009819": "Lower limb phocomelia", "HP:0009820": "Lower limb peromelia", "HP:0009821": "Forearm undergrowth", "HP:0009822": "Aplasia involving forearm bones", "HP:0009823": "Aplasia involving bones of the upper limbs", "HP:0009824": "Upper limb undergrowth", "HP:0009825": "Aplasia involving bones of the extremities", "HP:0009826": "Limb undergrowth", "HP:0009827": "Amelia", "HP:0009828": "Peromelia", "HP:0009829": "Phocomelia", "HP:0009830": "Peripheral neuropathy", "HP:0009831": "Mononeuropathy", "HP:0009832": "Abnormal distal phalanx morphology of finger", "HP:0009833": "Abnormal middle phalanx morphology of the hand", "HP:0009834": "Abnormal proximal phalanx morphology of the hand", "HP:0009835": "Aplasia/Hypoplasia of the distal phalanges of the hand", "HP:0009836": "Broad distal phalanx of finger", "HP:0009837": "Bullet-shaped distal phalanges of the hand", "HP:0009838": "Curved distal phalanges of the hand", "HP:0009839": "Osteolytic defects of the distal phalanges of the hand", "HP:0009840": "Patchy sclerosis of distal phalanx of finger", "HP:0009843": "Aplasia/Hypoplasia of the middle phalanges of the hand", "HP:0009844": "Broad middle phalanx of finger", "HP:0009845": "Bullet-shaped middle phalanges of the hand", "HP:0009846": "Curved middle phalanges of the hand", "HP:0009847": "Osteolytic defects of the middle phalanges of the hand", "HP:0009848": "Patchy sclerosis of middle phalanx of finger", "HP:0009849": "Symphalangism of middle phalanx of finger", "HP:0009850": "Triangular shaped middle phalanges of the hand", "HP:0009851": "Aplasia/Hypoplasia of the proximal phalanges of the hand", "HP:0009852": "Broad proximal phalanges of the hand", "HP:0009853": "Bullet-shaped proximal phalanges of the hand", "HP:0009854": "Curved proximal phalanges of the hand", "HP:0009855": "Osteolytic defects of the proximal phalanges of the hand", "HP:0009856": "Patchy sclerosis of proximal phalanx of finger", "HP:0009857": "Symphalangism affecting the proximal phalanges of the hand", "HP:0009858": "Triangular shaped proximal phalanges of the hand", "HP:0009875": "Triangular shaped distal phalanges of the hand", "HP:0009878": "Cerebellar ataxia associated with quadrupedal gait", "HP:0009879": "Simplified gyral pattern", "HP:0009880": "Broad distal phalanges of all fingers", "HP:0009881": "Aplasia of the distal phalanges of the hand", "HP:0009882": "Short distal phalanx of finger", "HP:0009883": "Duplication of the distal phalanx of hand", "HP:0009884": "Tapered distal phalanges of finger", "HP:0009886": "Trichorrhexis nodosa", "HP:0009887": "Abnormality of hair pigmentation", "HP:0009888": "Abnormality of secondary sexual hair", "HP:0009889": "Localized hirsutism", "HP:0009890": "High anterior hairline", "HP:0009891": "Underdeveloped supraorbital ridges", "HP:0009892": "Anotia", "HP:0009893": "Telangiectasia of the ear", "HP:0009894": "Thickened ears", "HP:0009895": "Abnormality of the crus of the helix", "HP:0009896": "Abnormal antitragus morphology", "HP:0009897": "Horizontal crus of helix", "HP:0009898": "Underdeveloped crus of the helix", "HP:0009899": "Prominent crus of helix", "HP:0009900": "Unilateral deafness", "HP:0009901": "Crumpled ear", "HP:0009902": "Cleft helix", "HP:0009903": "Conjunctival nodule", "HP:0009904": "Prominent ear helix", "HP:0009905": "Thin ear helix", "HP:0009906": "Aplasia/Hypoplasia of the earlobes", "HP:0009907": "Attached earlobe", "HP:0009908": "Anterior creases of earlobe", "HP:0009909": "Uplifted earlobe", "HP:0009910": "Aplasia of the middle ear ossicles", "HP:0009911": "Abnormal temporal bone morphology", "HP:0009912": "Abnormal tragus morphology", "HP:0009913": "Aplasia/Hypoplasia of the tragus", "HP:0009914": "Cyclopia", "HP:0009915": "Corneal asymmetry", "HP:0009916": "Anisocoria", "HP:0009917": "Persistent pupillary membrane", "HP:0009918": "Ectopia pupillae", "HP:0009919": "Retinoblastoma", "HP:0009920": "Nevus of Ota", "HP:0009921": "Duane anomaly", "HP:0009922": "Vascular remnant arising from the disc", "HP:0009924": "Aplasia/Hypoplasia involving the nose", "HP:0009926": "Epiphora", "HP:0009927": "Aplasia of the nose", "HP:0009928": "Thick nasal alae", "HP:0009929": "Abnormal columella morphology", "HP:0009930": "Asymmetry of the nares", "HP:0009931": "Enlarged naris", "HP:0009932": "Single naris", "HP:0009933": "Narrow naris", "HP:0009934": "Supernumerary naris", "HP:0009935": "Aplasia/Hypoplasia of the nasal septum", "HP:0009936": "Narrow nasal septum", "HP:0009937": "Facial hirsutism", "HP:0009938": "Sunken cheeks", "HP:0009939": "Mandibular aplasia", "HP:0009940": "Asymmetry of the mandible", "HP:0009941": "Asymmetry of the mouth", "HP:0009942": "Duplication of thumb phalanx", "HP:0009943": "Complete duplication of thumb phalanx", "HP:0009944": "Partial duplication of thumb phalanx", "HP:0009945": "Duplication of phalanx of 2nd finger", "HP:0009946": "Polydactyly affecting the 2nd finger", "HP:0009947": "Duplication of the proximal phalanx of the 2nd finger", "HP:0009948": "Duplication of the distal phalanx of the 2nd finger", "HP:0009949": "Duplication of the middle phalanx of the 2nd finger", "HP:0009950": "Complete duplication of the distal phalanx of the 2nd finger", "HP:0009951": "Partial duplication of the distal phalanx of the 2nd finger", "HP:0009952": "Complete duplication of the middle phalanx of the 2nd finger", "HP:0009953": "Partial duplication of the middle phalanx of the 2nd finger", "HP:0009954": "Complete duplication of the proximal phalanx of the 2nd finger", "HP:0009955": "Partial duplication of the proximal phalanx of the 2nd finger", "HP:0009956": "Partial duplication of the phalanges of the 2nd finger", "HP:0009957": "Complete duplication of the phalanges of the 2nd finger", "HP:0009958": "Polydactyly affecting the 3rd finger", "HP:0009959": "Duplication of phalanx of 3rd finger", "HP:0009960": "Complete duplication of the phalanges of the 3rd finger", "HP:0009961": "Partial duplication of the phalanges of the 3rd finger", "HP:0009962": "Duplication of the distal phalanx of the 3rd finger", "HP:0009963": "Duplication of the middle phalanx of the 3rd finger", "HP:0009964": "Duplication of the proximal phalanx of the 3rd finger", "HP:0009965": "Complete duplication of the distal phalanx of the 3rd finger", "HP:0009966": "Complete duplication of the middle phalanx of the 3rd finger", "HP:0009967": "Complete duplication of the proximal phalanx of the 3rd finger", "HP:0009968": "Partial duplication of the distal phalanx of the 3rd finger", "HP:0009969": "Partial duplication of the middle phalanx of the 3rd finger", "HP:0009970": "Partial duplication of the proximal phalanx of the 3rd finger", "HP:0009971": "Polydactyly affecting the 4th finger", "HP:0009972": "Duplication of phalanx of 4th finger", "HP:0009973": "Complete duplication of the phalanges of the 4th finger", "HP:0009974": "Partial duplication of the phalanges of the 4th finger", "HP:0009975": "Duplication of the distal phalanx of the 4th finger", "HP:0009976": "Duplication of the middle phalanx of the 4th finger", "HP:0009977": "Duplication of the proximal phalanx of the 4th finger", "HP:0009978": "Complete duplication of the distal phalanx of the 4th finger", "HP:0009979": "Complete duplication of the middle phalanx of the 4th finger", "HP:0009980": "Complete duplication of the proximal phalanx of the 4th finger", "HP:0009981": "Partial duplication of the distal phalanx of the 4th finger", "HP:0009982": "Partial duplication of the middle phalanx of the 4th finger", "HP:0009983": "Partial duplication of the proximal phalanx of the 4th finger", "HP:0009985": "Duplication of phalanx of 5th finger", "HP:0009986": "Complete duplication of the phalanges of the 5th finger", "HP:0009987": "Partial duplication of the phalanges of the 5th finger", "HP:0009988": "Duplication of the distal phalanx of the 5th finger", "HP:0009989": "Duplication of the middle phalanx of the 5th finger", "HP:0009990": "Duplication of the proximal phalanx of the 5th finger", "HP:0009991": "Complete duplication of the distal phalanx of the 5th finger", "HP:0009992": "Complete duplication of the middle phalanx of the 5th finger", "HP:0009993": "Complete duplication of the proximal phalanx of the 5th finger", "HP:0009994": "Partial duplication of the distal phalanx of the 5th finger", "HP:0009995": "Partial duplication of the middle phalanx of the 5th finger", "HP:0009996": "Partial duplication of the proximal phalanx of the 5th finger", "HP:0009997": "Duplication of phalanx of hand", "HP:0009998": "Complete duplication of phalanx of hand", "HP:0009999": "Partial duplication of the phalanx of hand", "HP:0010000": "Complete duplication of the proximal phalanges of the hand", "HP:0010001": "Complete duplication of the distal phalanges of the hand", "HP:0010002": "Complete duplication of the middle phalanges of the hand", "HP:0010003": "Partial duplication of the proximal phalanges of the hand", "HP:0010004": "Partial duplication of the distal phalanges of the hand", "HP:0010005": "Partial duplication of the middle phalanges of the hand", "HP:0010006": "Duplication of the proximal phalanx of hand", "HP:0010008": "Duplication of the middle phalanx of hand", "HP:0010009": "Abnormal 1st metacarpal morphology", "HP:0010010": "Abnormal 2nd metacarpal morphology", "HP:0010011": "Abnormal 3rd metacarpal morphology", "HP:0010012": "Abnormal 4th metacarpal morphology", "HP:0010013": "Abnormal 5th metacarpal morphology", "HP:0010014": "Abnormality of the epiphysis of the 1st metacarpal", "HP:0010015": "Absent epiphysis of the 1st metacarpal", "HP:0010016": "Bracket epiphysis of the 1st metacarpal", "HP:0010017": "Cone-shaped epiphysis of the 1st metacarpal", "HP:0010018": "Enlarged epiphysis of the 1st metacarpal", "HP:0010019": "Fragmentation of the epiphysis of the 1st metacarpal", "HP:0010020": "Irregular epiphysis of the 1st metacarpal", "HP:0010021": "Ivory epiphysis of the 1st metacarpal", "HP:0010022": "Pseudoepiphysis of the 1st metacarpal", "HP:0010023": "Small epiphysis of the 1st metacarpal", "HP:0010024": "Epiphyseal stippling of the first metacarpal", "HP:0010025": "Triangular epiphysis of the 1st metacarpal", "HP:0010026": "Aplasia/Hypoplasia of the 1st metacarpal", "HP:0010027": "Broad 1st metacarpal", "HP:0010028": "Bullet-shaped 1st metacarpal", "HP:0010029": "Curved 1st metacarpal", "HP:0010030": "Osteolytic defects of the 1st metacarpal", "HP:0010031": "Patchy sclerosis of the 1st metacarpal", "HP:0010033": "Triangular shaped 1st metacarpal", "HP:0010034": "Short 1st metacarpal", "HP:0010035": "Aplasia of the 1st metacarpal", "HP:0010036": "Aplasia/Hypoplasia of the 2nd metacarpal", "HP:0010037": "Aplasia of the 2nd metacarpal", "HP:0010038": "Short 2nd metacarpal", "HP:0010039": "Aplasia/Hypoplasia of the 3rd metacarpal", "HP:0010040": "Aplasia of the 3rd metacarpal", "HP:0010041": "Short 3rd metacarpal", "HP:0010042": "Aplasia/Hypoplasia of the 4th metacarpal", "HP:0010043": "Aplasia of the 4th metacarpal", "HP:0010044": "Short 4th metacarpal", "HP:0010045": "Aplasia/Hypoplasia of the 5th metacarpal", "HP:0010046": "Aplasia of the 5th metacarpal", "HP:0010047": "Short 5th metacarpal", "HP:0010048": "Aplasia of metacarpal bones", "HP:0010049": "Short metacarpal", "HP:0010051": "Deviation of the hallux", "HP:0010052": "Abnormal morphology of the proximal phalanx of the hallux", "HP:0010053": "Abnormality of the distal phalanx of the hallux", "HP:0010054": "Abnormality of the first metatarsal bone", "HP:0010055": "Broad hallux", "HP:0010056": "Abnormality of the epiphyses of the hallux", "HP:0010057": "Abnormal hallux phalanx morphology", "HP:0010058": "Aplasia/Hypoplasia of the phalanges of the hallux", "HP:0010059": "Broad hallux phalanx", "HP:0010060": "Bullet-shaped hallux phalanx", "HP:0010061": "Curved hallux phalanx", "HP:0010062": "Osteolytic defects of the phalanges of the hallux", "HP:0010063": "Patchy sclerosis of hallux phalanx", "HP:0010064": "Symphalangism affecting the phalanges of the hallux", "HP:0010065": "Triangular shaped phalanges of the hallux", "HP:0010066": "Duplication of phalanx of hallux", "HP:0010067": "Aplasia/hypoplasia of the 1st metatarsal", "HP:0010068": "Broad first metatarsal", "HP:0010069": "Bullet-shaped 1st metatarsal", "HP:0010070": "Curved 1st metatarsal", "HP:0010071": "Osteolytic defects of the 1st metatarsal", "HP:0010072": "Patchy sclerosis of the 1st metatarsal", "HP:0010073": "Synostosis involving the 1st metatarsal", "HP:0010074": "Triangular shaped 1st metatarsal", "HP:0010075": "Duplication of the 1st metatarsal", "HP:0010076": "Aplasia/Hypoplasia of the distal phalanx of the hallux", "HP:0010077": "Broad distal phalanx of the hallux", "HP:0010078": "Bullet-shaped distal phalanx of the hallux", "HP:0010079": "Curved distal phalanx of the hallux", "HP:0010080": "Osteolytic defects of the distal phalanx of the hallux", "HP:0010081": "Patchy sclerosis of the distal phalanx of the hallux", "HP:0010082": "Symphalangism affecting the distal phalanx of the hallux", "HP:0010083": "Triangular shaped distal phalanx of the hallux", "HP:0010084": "Duplication of the distal phalanx of the hallux", "HP:0010085": "Aplasia/Hypoplasia of the proximal phalanx of the hallux", "HP:0010086": "Broad proximal phalanx of the hallux", "HP:0010087": "Bullet-shaped proximal phalanx of the hallux", "HP:0010088": "Curved proximal phalanx of the hallux", "HP:0010089": "Osteolytic defects of the proximal phalanx of the hallux", "HP:0010090": "Patchy sclerosis of the proximal phalanx of the hallux", "HP:0010091": "Symphalangism affecting the proximal phalanx of the hallux", "HP:0010092": "Triangular shaped proximal phalanx of the hallux", "HP:0010093": "Duplication of the proximal phalanx of the hallux", "HP:0010094": "Complete duplication of the proximal phalanx of the hallux", "HP:0010095": "Partial duplication of the proximal phalanx of the hallux", "HP:0010096": "Complete duplication of the distal phalanx of the hallux", "HP:0010097": "Partial duplication of the distal phalanx of the hallux", "HP:0010098": "Complete duplication of the 1st metatarsal", "HP:0010099": "Partial duplication of the 1st metatarsal", "HP:0010100": "Complete duplication of hallux phalanx", "HP:0010101": "Partial duplication of the phalanges of the hallux", "HP:0010102": "Aplasia of the distal phalanx of the hallux", "HP:0010103": "Short distal phalanx of hallux", "HP:0010104": "Absent first metatarsal", "HP:0010105": "Short first metatarsal", "HP:0010106": "Aplasia of the proximal phalanx of the hallux", "HP:0010107": "Short proximal phalanx of hallux", "HP:0010109": "Short hallux", "HP:0010110": "Aplasia of the phalanges of the hallux", "HP:0010111": "Short phalanx of hallux", "HP:0010112": "Mesoaxial foot polydactyly", "HP:0010113": "Absent hallux epiphysis", "HP:0010114": "Bracket epiphyses of the hallux", "HP:0010115": "Cone-shaped epiphyses of the hallux", "HP:0010116": "Enlarged epiphyses of the hallux", "HP:0010117": "Fragmentation of the epiphyses of the hallux", "HP:0010118": "Irregular epiphyses of the hallux", "HP:0010119": "Ivory epiphyses of the hallux", "HP:0010120": "Pseudoepiphyses of the hallux", "HP:0010121": "Small epiphyses of the hallux", "HP:0010122": "Stippling of the epiphyses of the hallux", "HP:0010123": "Triangular epiphyses of the hallux", "HP:0010124": "Abnormality of the epiphysis of the distal phalanx of the hallux", "HP:0010125": "Abnormality of the epiphysis of the 1st metatarsal", "HP:0010126": "Abnormality of the epiphysis of the proximal phalanx of the hallux", "HP:0010127": "Absent epiphysis of the proximal phalanx of the hallux", "HP:0010128": "Bracket epiphysis of the proximal phalanx of the hallux", "HP:0010129": "Cone-shaped epiphysis of the proximal phalanx of the hallux", "HP:0010130": "Enlarged epiphysis of the proximal phalanx of the hallux", "HP:0010131": "Fragmentation of the epiphysis of the proximal phalanx of the hallux", "HP:0010132": "Irregular epiphysis of the proximal phalanx of the hallux", "HP:0010133": "Ivory epiphysis of the proximal phalanx of the hallux", "HP:0010134": "Pseudoepiphysis of the proximal phalanx of the hallux", "HP:0010135": "Small epiphysis of the proximal phalanx of the hallux", "HP:0010136": "Stippling of the epiphysis of the proximal phalanx of the hallux", "HP:0010137": "Triangular epiphysis of the proximal phalanx of the hallux", "HP:0010138": "Absent epiphysis of the distal phalanx of the hallux", "HP:0010139": "Bracket epiphysis of the distal phalanx of the hallux", "HP:0010140": "Cone-shaped epiphysis of the distal phalanx of the hallux", "HP:0010141": "Enlarged epiphysis of the distal phalanx of the hallux", "HP:0010142": "Fragmentation of the epiphysis of the distal phalanx of the hallux", "HP:0010143": "Irregular epiphysis of the distal phalanx of the hallux", "HP:0010144": "Ivory epiphysis of the distal phalanx of the hallux", "HP:0010145": "Pseudoepiphysis of the distal phalanx of the hallux", "HP:0010146": "Small epiphysis of the distal phalanx of the hallux", "HP:0010147": "Stippling of the epiphysis of the distal phalanx of the hallux", "HP:0010148": "Triangular epiphysis of the distal phalanx of the hallux", "HP:0010149": "Absent epiphysis of the 1st metatarsal", "HP:0010150": "Bracket epiphysis of the 1st metatarsal", "HP:0010151": "Cone-shaped epiphysis of the 1st metatarsal", "HP:0010152": "Enlarged epiphysis of the 1st metatarsal", "HP:0010153": "Fragmentation of the epiphysis of the 1st metatarsal", "HP:0010154": "Irregular epiphysis of the 1st metatarsal", "HP:0010155": "Ivory epiphysis of the 1st metatarsal", "HP:0010156": "Pseudoepiphysis of the 1st metatarsal", "HP:0010157": "Small epiphysis of the 1st metatarsal", "HP:0010158": "Stippling of the epiphysis of the 1st metatarsal", "HP:0010159": "Triangular epiphysis of the 1st metatarsal", "HP:0010160": "Abnormal toe epiphysis morphology", "HP:0010161": "Abnormal toe phalanx morphology", "HP:0010162": "Absent epiphyses of the toes", "HP:0010163": "Bracket epiphyses of the toes", "HP:0010164": "Cone-shaped epiphyses of the toes", "HP:0010165": "Enlarged epiphyses of the toes", "HP:0010166": "Fragmentation of the epiphyses of the toes", "HP:0010167": "Irregular epiphyses of the toes", "HP:0010168": "Ivory epiphyses of the toes", "HP:0010169": "Pseudoepiphyses of the toes", "HP:0010170": "Small epiphyses of the toes", "HP:0010171": "Epiphyseal stippling of toe phalanges", "HP:0010172": "Triangular epiphyses of the toes", "HP:0010173": "Aplasia/Hypoplasia of the phalanges of the toes", "HP:0010174": "Broad phalanx of the toes", "HP:0010175": "Bullet-shaped toe phalanx", "HP:0010176": "Curved toe phalanx", "HP:0010177": "Osteolytic defects of the phalanges of the toes", "HP:0010178": "Patchy sclerosis of toe phalanx", "HP:0010179": "Symphalangism affecting the phalanges of the toes", "HP:0010180": "Triangular shaped phalanges of the toes", "HP:0010181": "Duplication of phalanx of toe", "HP:0010182": "Abnormality of the distal phalanges of the toes", "HP:0010183": "Abnormality of the middle phalanges of the toes", "HP:0010184": "Abnormality of toe proximal phalanx", "HP:0010185": "Aplasia/Hypoplasia of the distal phalanges of the toes", "HP:0010186": "Broad distal phalanx of the toes", "HP:0010187": "Bullet-shaped distal toe phalanx", "HP:0010188": "Curved distal toe phalanx", "HP:0010189": "Osteolytic defects of the distal phalanges of the toes", "HP:0010190": "Patchy sclerosis of distal toe phalanx", "HP:0010191": "Symphalangism affecting the distal phalanges of the toes", "HP:0010192": "Triangular shaped distal phalanges of the toes", "HP:0010193": "Duplication of distal phalanx of toe", "HP:0010194": "Aplasia/Hypoplasia of the middle phalanges of the toes", "HP:0010195": "Broad middle phalanges of the toes", "HP:0010196": "Bullet-shaped middle toe phalanx", "HP:0010197": "Curved middle toe phalanx", "HP:0010198": "Osteolytic defects of the middle phalanges of the toes", "HP:0010199": "Patchy sclerosis of middle toe phalanx", "HP:0010200": "Symphalangism affecting the middle phalanges of the toes", "HP:0010201": "Triangular shaped middle phalanges of the toes", "HP:0010202": "Duplication of middle phalanx of toe", "HP:0010203": "Aplasia/hypoplasia of proximal toe phalanx", "HP:0010204": "Broad proximal phalanx of toe", "HP:0010205": "Bullet-shaped proximal toe phalanx", "HP:0010206": "Curved proximal toe phalanx", "HP:0010207": "Osteolytic defect of the proximal toe phalanx", "HP:0010208": "Patchy sclerosis of proximal toe phalanx", "HP:0010209": "Symphalangism affecting the proximal phalanges of the toes", "HP:0010210": "Triangular shaped proximal phalanges of the toes", "HP:0010211": "Duplication of proximal phalanx of toe", "HP:0010212": "Flexion contracture of the hallux", "HP:0010213": "Contracture of the tarsometatarsal joint of the hallux", "HP:0010214": "Contracture of the interphalangeal joint of the hallux", "HP:0010215": "Contractures of the metatarsophalangeal joint of the hallux", "HP:0010219": "Structural foot deformity", "HP:0010220": "Abnormality of the epiphysis of the 2nd metacarpal", "HP:0010222": "Abnormality of the epiphysis of the 3rd metacarpal", "HP:0010223": "Pseudoepiphysis of the 3rd metacarpal", "HP:0010224": "Abnormality of the epiphysis of the 4th metacarpal", "HP:0010225": "Pseudoepiphysis of the 4th metacarpal", "HP:0010226": "Abnormality of the epiphysis of the 5th metacarpal", "HP:0010227": "Pseudoepiphysis of the 5th metacarpal", "HP:0010228": "Absent epiphyses of the phalanges of the hand", "HP:0010229": "Bracket epiphyses of the phalanges of the hand", "HP:0010230": "Cone-shaped epiphyses of the phalanges of the hand", "HP:0010231": "Enlarged epiphyses of the phalanges of the hand", "HP:0010232": "Fragmentation of the epiphyses of the phalanges of the hand", "HP:0010233": "Irregular epiphyses of the phalanges of the hand", "HP:0010234": "Ivory epiphyses of the phalanges of the hand", "HP:0010235": "Pseudoepiphyses of the phalanges of the hand", "HP:0010236": "Small epiphyses of the phalanges of the hand", "HP:0010237": "Epiphyseal stippling of finger phalanges", "HP:0010238": "Triangular epiphyses of the phalanges of the hand", "HP:0010239": "Aplasia of the middle phalanx of the hand", "HP:0010241": "Short proximal phalanx of finger", "HP:0010242": "Aplasia of the proximal phalanges of the hand", "HP:0010243": "Abnormality of the epiphyses of the distal phalanx of finger", "HP:0010244": "Abnormality of the epiphyses of the middle phalanges of the hand", "HP:0010245": "Abnormality of the epiphyses of the proximal phalanges of the hand", "HP:0010246": "Absent epiphyses of the distal phalanges of the hand", "HP:0010247": "Bracket epiphyses of the distal phalanges of the hand", "HP:0010248": "Cone-shaped epiphyses of the distal phalanges of the hand", "HP:0010249": "Enlarged epiphyses of the distal phalanges of the hand", "HP:0010250": "Fragmentation of the epiphyses of the distal phalanges of the hand", "HP:0010251": "Irregular epiphyses of the distal phalanges of the hand", "HP:0010252": "Ivory epiphyses of the distal phalanges of the hand", "HP:0010253": "Pseudoepiphyses of the distal phalanges of the hand", "HP:0010254": "Small epiphyses of the distal phalanges of the hand", "HP:0010255": "Stippling of the epiphyses of the distal phalanges of the hand", "HP:0010256": "Triangular epiphyses of the distal phalanges of the hand", "HP:0010257": "Absent epiphyses of the middle phalanges of the hand", "HP:0010258": "Bracket epiphyses of the middle phalanges of the hand", "HP:0010259": "Cone-shaped epiphyses of the middle phalanges of the hand", "HP:0010260": "Enlarged epiphyses of the middle phalanges of the hand", "HP:0010261": "Fragmentation of the epiphyses of the middle phalanges of the hand", "HP:0010262": "Irregular epiphyses of the middle phalanges of the hand", "HP:0010263": "Ivory epiphyses of the middle phalanges of the hand", "HP:0010264": "Pseudoepiphyses of the middle phalanges of the hand", "HP:0010265": "Small epiphyses of the middle phalanges of the hand", "HP:0010266": "Stippling of the epiphyses of the middle phalanges of the hand", "HP:0010267": "Triangular epiphyses of the middle phalanges of the hand", "HP:0010268": "Absent epiphyses of the proximal phalanges of the hand", "HP:0010269": "Bracket epiphyses of the proximal phalanges of the hand", "HP:0010270": "Cone-shaped epiphyses of the proximal phalanges of the hand", "HP:0010271": "Enlarged epiphyses of the proximal phalanges of the hand", "HP:0010272": "Fragmentation of the epiphyses of the proximal phalanges of the hand", "HP:0010273": "Irregular epiphyses of the proximal phalanges of the hand", "HP:0010274": "Ivory epiphyses of the proximal phalanges of the hand", "HP:0010275": "Pseudoepiphyses of the proximal phalanges of the hand", "HP:0010276": "Small epiphyses of the proximal phalanges of the hand", "HP:0010277": "Stippling of the epiphyses of the proximal phalanges of the hand", "HP:0010278": "Triangular epiphyses of the proximal phalanges of the hand", "HP:0010280": "Stomatitis", "HP:0010281": "Cleft lower lip", "HP:0010282": "Thin lower lip vermilion", "HP:0010284": "Intra-oral hyperpigmentation", "HP:0010285": "Oral synechia", "HP:0010286": "Abnormal salivary gland morphology", "HP:0010287": "Abnormality of the submandibular glands", "HP:0010288": "Abnormality of the sublingual glands", "HP:0010289": "Cleft maxillary alveolar ridge", "HP:0010290": "Short hard palate", "HP:0010291": "Prominent palatine ridges", "HP:0010292": "Absent uvula", "HP:0010293": "Aplasia/Hypoplasia of the uvula", "HP:0010294": "Palate fistula", "HP:0010295": "Aplasia/Hypoplasia of the tongue", "HP:0010296": "Ankyloglossia", "HP:0010297": "Bifid tongue", "HP:0010298": "Smooth tongue", "HP:0010299": "Abnormal dentin morphology", "HP:0010300": "Abnormally low-pitched voice", "HP:0010301": "Spinal dysraphism", "HP:0010302": "Spinal cord tumor", "HP:0010303": "Abnormal spinal meningeal morphology", "HP:0010304": "Spinal meningeal diverticulum", "HP:0010305": "Absence of the sacrum", "HP:0010306": "Short thorax", "HP:0010307": "Stridor", "HP:0010308": "Asternia", "HP:0010309": "Bifid sternum", "HP:0010310": "Chylothorax", "HP:0010311": "Aplasia/Hypoplasia of the breasts", "HP:0010312": "Asymmetry of the breasts", "HP:0010313": "Breast hypertrophy", "HP:0010314": "Premature thelarche", "HP:0010315": "Aplasia/Hypoplasia of the diaphragm", "HP:0010316": "Ebstein anomaly of the tricuspid valve", "HP:0010317": "Scapular aplasia", "HP:0010318": "Aplasia/Hypoplasia of the abdominal wall musculature", "HP:0010319": "Abnormal second toe morphology", "HP:0010320": "Abnormal third toe morphology", "HP:0010321": "Abnormal fourth toe morphology", "HP:0010322": "Abnormal fifth toe morphology", "HP:0010323": "Abnormality of the epiphyses of the 2nd toe", "HP:0010324": "Abnormal morphology of phalanx of the 2nd toe", "HP:0010325": "Aplasia/Hypoplasia of the 2nd toe", "HP:0010326": "Deviation of the 2nd toe", "HP:0010327": "Flexion contracture of the 2nd toe", "HP:0010328": "Polydactyly affecting the 2nd toe", "HP:0010329": "Abnormality of the epiphyses of the 3rd toe", "HP:0010330": "Abnormality of the phalanges of the 3rd toe", "HP:0010331": "Aplasia/Hypoplasia of the 3rd toe", "HP:0010332": "Deviation of the 3rd toe", "HP:0010333": "Flexion contracture of 3rd toe", "HP:0010334": "Polydactyly affecting the 3rd toe", "HP:0010335": "Abnormality of the epiphyses of the 4th toe", "HP:0010336": "Abnormality of the phalanges of the 4th toe", "HP:0010337": "Aplasia/Hypoplasia of the 4th toe", "HP:0010338": "Deviation of the 4th toe", "HP:0010339": "Flexion contracture of the 4th toe", "HP:0010340": "Polydactyly affecting the 4th toe", "HP:0010341": "Abnormality of the epiphyses of the 5th toe", "HP:0010342": "Abnormality of the phalanges of the 5th toe", "HP:0010343": "Aplasia/Hypoplasia of the 5th toe", "HP:0010344": "Deviation of the 5th toe", "HP:0010345": "Flexion contracture of the 5th toe", "HP:0010347": "Aplasia/Hypoplasia of the phalanges of the 2nd toe", "HP:0010348": "Broad phalanges of the 2nd toe", "HP:0010349": "Bullet-shaped 2nd toe phalanx", "HP:0010350": "Curved 2nd toe phalanx", "HP:0010351": "Osteolytic defects of the phalanges of the 2nd toe", "HP:0010352": "Patchy sclerosis of 2nd toe phalanx", "HP:0010353": "Second toe symphalangism", "HP:0010354": "Triangular shaped phalanges of the 2nd toe", "HP:0010355": "Duplication of the phalanges of the 2nd toe", "HP:0010356": "Abnormality of the distal phalanx of the 2nd toe", "HP:0010357": "Abnormality of the middle phalanx of the 2nd toe", "HP:0010358": "Abnormal morphology of the proximal phalanx of the 2nd toe", "HP:0010359": "Aplasia/Hypoplasia of the phalanges of the 3rd toe", "HP:0010360": "Broad phalanges of the 3rd toe", "HP:0010361": "Bullet-shaped 3rd toe phalanx", "HP:0010362": "Curved 3rd toe phalanx", "HP:0010363": "Osteolytic defects of the phalanges of the 3rd toe", "HP:0010364": "Patchy sclerosis of 3rd toe phalanx", "HP:0010365": "Symphalangism affecting the phalanges of the 3rd toe", "HP:0010366": "Triangular shaped phalanges of the 3rd toe", "HP:0010367": "Duplication of phalanx of the 3rd toe", "HP:0010368": "Abnormality of the distal phalanx of the 3rd toe", "HP:0010369": "Abnormality of the middle phalanx of the 3rd toe", "HP:0010370": "Abnormal morphology of the proximal phalanx of the 3rd toe", "HP:0010371": "Aplasia/Hypoplasia of the phalanges of the 4th toe", "HP:0010372": "Broad phalanges of the 4th toe", "HP:0010373": "Bullet-shaped 4th toe phalanx", "HP:0010374": "Curved 4th toe phalanx", "HP:0010375": "Osteolytic defects of the phalanges of the 4th toe", "HP:0010376": "Patchy sclerosis of 4th toe phalanx", "HP:0010377": "Symphalangism affecting the phalanges of the 4th toe", "HP:0010378": "Triangular shaped phalanges of the 4th toe", "HP:0010379": "Duplication of phalanx of the 4th toe", "HP:0010380": "Abnormality of the distal phalanx of the 4th toe", "HP:0010381": "Abnormality of the middle phalanx of the 4th toe", "HP:0010382": "Abnormal morphology of the proximal phalanx of the 4th toe", "HP:0010383": "Aplasia/Hypoplasia of the phalanges of the 5th toe", "HP:0010384": "Broad phalanges of the 5th toe", "HP:0010385": "Bullet-shaped 5th toe phalanx", "HP:0010386": "Curved 5th toe phalanx", "HP:0010387": "Osteolytic defects of the phalanges of the 5th toe", "HP:0010388": "Patchy sclerosis of 5th toe phalanx", "HP:0010389": "Symphalangism affecting the phalanges of the 5th toe", "HP:0010390": "Triangular shaped phalanges of the 5th toe", "HP:0010391": "Duplication of the phalanges of the 5th toe", "HP:0010392": "Abnormality of the distal phalanx of the 5th toe", "HP:0010393": "Abnormality of the middle phalanx of the 5th toe", "HP:0010394": "Abnormal morphology of the proximal phalanx of the 5th toe", "HP:0010395": "Aplasia/hypoplasia of the proximal phalanx of the 2nd toe", "HP:0010396": "Broad proximal phalanx of the 2nd toe", "HP:0010397": "Bullet-shaped proximal phalanx of the 2nd toe", "HP:0010398": "Curved proximal phalanx of the 2nd toe", "HP:0010399": "Osteolytic defects of the proximal phalanx of the 2nd toe", "HP:0010400": "Patchy sclerosis of the proximal phalanx of the 2nd toe", "HP:0010401": "Symphalangism affecting the proximal phalanx of the 2nd toe", "HP:0010402": "Triangular shaped proximal phalanx of the 2nd toe", "HP:0010403": "Duplication of the proximal phalanx of the 2nd toe", "HP:0010404": "Aplasia/Hypoplasia of the middle phalanx of the 2nd toe", "HP:0010405": "Broad middle phalanx of the 2nd toe", "HP:0010406": "Bullet-shaped middle phalanx of the 2nd toe", "HP:0010407": "Curved middle phalanx of the 2nd toe", "HP:0010408": "Osteolytic defects of the middle phalanx of the 2nd toe", "HP:0010409": "Patchy sclerosis of the middle phalanx of the 2nd toe", "HP:0010410": "Symphalangism affecting the middle phalanx of the 2nd toe", "HP:0010411": "Triangular shaped middle phalanx of the 2nd toe", "HP:0010412": "Duplication of the middle phalanx of the 2nd toe", "HP:0010413": "Aplasia/Hypoplasia of the distal phalanx of the 2nd toe", "HP:0010414": "Broad distal phalanx of the 2nd toe", "HP:0010415": "Bullet-shaped distal phalanx of the 2nd toe", "HP:0010416": "Curved distal phalanx of the 2nd toe", "HP:0010417": "Osteolytic defects of the distal phalanx of the 2nd toe", "HP:0010418": "Patchy sclerosis of the distal phalanx of the 2nd toe", "HP:0010419": "Symphalangism affecting the distal phalanx of the 2nd toe", "HP:0010420": "Triangular shaped distal phalanx of the 2nd toe", "HP:0010421": "Duplication of the distal phalanx of the 2nd toe", "HP:0010422": "Complete duplication of the proximal phalanx of the 2nd toe", "HP:0010423": "Partial duplication of the proximal phalanx of the 2nd toe", "HP:0010424": "Complete duplication of the distal phalanx of the 2nd toe", "HP:0010425": "Partial duplication of the distal phalanx of the 2nd toe", "HP:0010426": "Complete duplication of the middle phalanx of the 2nd toe", "HP:0010427": "Partial duplication of the middle phalanx of the 2nd toe", "HP:0010428": "Partial duplication of phalanx of the 2nd toe", "HP:0010429": "Complete duplication of the phalanges of the 2nd toe", "HP:0010430": "Aplasia of the phalanges of the 2nd toe", "HP:0010431": "Short phalanx of the 2nd toe", "HP:0010432": "Absent distal phalanx of the 2nd toe", "HP:0010433": "Short distal phalanx of the 2nd toe", "HP:0010434": "Aplasia of the middle phalanx of the 2nd toe", "HP:0010435": "Short middle phalanx of the 2nd toe", "HP:0010436": "Aplasia of the proximal phalanx of the 2nd toe", "HP:0010437": "Short proximal phalanx of the 2nd toe", "HP:0010438": "Abnormal ventricular septum morphology", "HP:0010440": "Ectopic accesory toe-like appendage", "HP:0010441": "Ectopic accessory finger-like appendage", "HP:0010442": "Polydactyly", "HP:0010443": "Bifid femur", "HP:0010444": "Pulmonary insufficiency", "HP:0010445": "Primum atrial septal defect", "HP:0010446": "Tricuspid stenosis", "HP:0010447": "Anal fistula", "HP:0010448": "Colonic atresia", "HP:0010450": "Esophageal stenosis", "HP:0010451": "Aplasia/Hypoplasia of the spleen", "HP:0010452": "Ectopia of the spleen", "HP:0010453": "Pelvic bone asymmetry", "HP:0010454": "Acetabular spurs", "HP:0010455": "Steep acetabular roof", "HP:0010456": "Abnormal greater sciatic notch morphology", "HP:0010458": "Female pseudohermaphroditism", "HP:0010459": "True hermaphroditism", "HP:0010460": "Abnormality of the female genitalia", "HP:0010461": "Abnormality of the male genitalia", "HP:0010462": "Aplasia/Hypoplasia of the ovary", "HP:0010463": "Aplasia of the ovary", "HP:0010464": "Streak ovary", "HP:0010465": "Precocious puberty in females", "HP:0010468": "Aplasia/Hypoplasia of the testes", "HP:0010469": "Absent testis", "HP:0010470": "Supernumerary testes", "HP:0010471": "Oligosacchariduria", "HP:0010472": "Abnormal circulating porphyrin concentration", "HP:0010473": "Porphyrinuria", "HP:0010474": "Bladder stones", "HP:0010475": "Cloacal exstrophy", "HP:0010476": "Aplasia/Hypoplasia of the bladder", "HP:0010477": "Aplasia of the bladder", "HP:0010478": "Abnormality of the urachus", "HP:0010479": "Patent urachus", "HP:0010480": "Urethral fistula", "HP:0010481": "Urethral valve", "HP:0010482": "Acromelia of the upper limbs", "HP:0010483": "Amniotic constriction rings of arms", "HP:0010484": "Hypertrophy of the upper limb", "HP:0010485": "Hyperextensibility at elbow", "HP:0010486": "Abnormality of the hypothenar eminence", "HP:0010487": "Small hypothenar eminence", "HP:0010488": "Aplasia/Hypoplasia of the palmar creases", "HP:0010489": "Absent palmar crease", "HP:0010490": "Abnormality of the palmar creases", "HP:0010491": "Digital constriction ring", "HP:0010492": "Osseous finger syndactyly", "HP:0010493": "Long metacarpals", "HP:0010494": "Acromelia of the lower limbs", "HP:0010495": "Amniotic constriction rings of legs", "HP:0010496": "Hypertrophy of the lower limb", "HP:0010497": "Sirenomelia", "HP:0010498": "Bipartite patella", "HP:0010499": "Patellar subluxation", "HP:0010500": "Hyperextensibility of the knee", "HP:0010501": "Limitation of knee mobility", "HP:0010502": "Fibular bowing", "HP:0010503": "Fibular duplication", "HP:0010504": "Increased length of the tibia", "HP:0010505": "Limitation of movement at ankles", "HP:0010506": "Abnormal plantar dermatoglyphics", "HP:0010507": "Foot asymmetry", "HP:0010508": "Metatarsus valgus", "HP:0010509": "Aplasia of the tarsal bones", "HP:0010510": "Hypermobility of toe joints", "HP:0010511": "Long toe", "HP:0010512": "Adrenal calcification", "HP:0010513": "Pituitary calcification", "HP:0010514": "Hyperpituitarism", "HP:0010515": "Aplasia/Hypoplasia of the thymus", "HP:0010516": "Thymus hyperplasia", "HP:0010517": "Ectopic thymus tissue", "HP:0010518": "Thyroglossal cyst", "HP:0010519": "Increased fetal movement", "HP:0010521": "Gait apraxia", "HP:0010522": "Dyslexia", "HP:0010523": "Alexia", "HP:0010524": "Agnosia", "HP:0010525": "Finger agnosia", "HP:0010526": "Dysgraphia", "HP:0010527": "Astereognosia", "HP:0010528": "Prosopagnosia", "HP:0010529": "Echolalia", "HP:0010530": "Palatal tremor", "HP:0010531": "Spinal myoclonus", "HP:0010532": "Paroxysmal vertigo", "HP:0010533": "Spasmus nutans", "HP:0010534": "Transient global amnesia", "HP:0010535": "Sleep apnea", "HP:0010536": "Central sleep apnea", "HP:0010537": "Wide cranial sutures", "HP:0010538": "Small sella turcica", "HP:0010539": "Thin calvarium", "HP:0010540": "Advanced pneumatization of cranial sinuses", "HP:0010541": "Cutis gyrata of scalp", "HP:0010542": "Vestibular nystagmus", "HP:0010543": "Opsoclonus", "HP:0010544": "Vertical nystagmus", "HP:0010545": "Downbeat nystagmus", "HP:0010546": "Muscle fibrillation", "HP:0010547": "Muscle flaccidity", "HP:0010548": "Percussion myotonia", "HP:0010549": "Weakness due to upper motor neuron dysfunction", "HP:0010550": "Paraplegia", "HP:0010551": "Paraplegia/paraparesis", "HP:0010553": "Oculogyric crisis", "HP:0010554": "Cutaneous finger syndactyly", "HP:0010557": "Overlapping fingers", "HP:0010558": "Abnormality of the clivus", "HP:0010559": "Vertical clivus", "HP:0010560": "Undulate clavicles", "HP:0010561": "Undulate ribs", "HP:0010562": "Keloids", "HP:0010564": "Bifid epiglottis", "HP:0010565": "Aplasia/Hypoplasia of the Epiglottis", "HP:0010566": "Hamartoma", "HP:0010567": "Y-shaped metatarsals", "HP:0010568": "Hamartoma of the eye", "HP:0010569": "Elevated 7-dehydrocholesterol", "HP:0010570": "Low maternal circulating alpha-fetoprotein concentration", "HP:0010571": "Elevated circulating phytanic acid concentration", "HP:0010574": "Abnormality of the epiphysis of the femoral head", "HP:0010575": "Dysplasia of the femoral head", "HP:0010576": "Intracranial cystic lesion", "HP:0010577": "Absent epiphyses", "HP:0010578": "Bracket epiphyses", "HP:0010579": "Cone-shaped epiphysis", "HP:0010580": "Enlarged epiphyses", "HP:0010582": "Irregular epiphyses", "HP:0010583": "Ivory epiphyses", "HP:0010584": "Pseudoepiphyses", "HP:0010585": "Small epiphyses", "HP:0010587": "Triangular epiphyses", "HP:0010588": "Premature epimetaphyseal fusion", "HP:0010590": "Abnormality of the distal femoral epiphysis", "HP:0010591": "Abnormality of the proximal tibial epiphysis", "HP:0010592": "Abnormality of the distal tibial epiphysis", "HP:0010593": "Abnormal fibular epiphysis morphology", "HP:0010594": "Abnormality of the proximal fibular epiphysis", "HP:0010595": "Abnormality of the distal fibular epiphysis", "HP:0010596": "Abnormality of the proximal radial epiphysis", "HP:0010597": "Abnormality of the distal radial epiphysis", "HP:0010598": "Abnormality of the proximal humeral epiphysis", "HP:0010599": "Abnormality of the distal humeral epiphysis", "HP:0010600": "Abnormal distal ulnar epiphysis morphology", "HP:0010601": "Abnormal proximal ulnar epiphysis morphology", "HP:0010602": "Type 2 muscle fiber predominance", "HP:0010603": "Odontogenic keratocysts of the jaw", "HP:0010604": "Cyst of the eyelid", "HP:0010605": "Chalazion", "HP:0010606": "Hordeolum", "HP:0010607": "Hordeolum externum", "HP:0010608": "Hordeolum internum", "HP:0010609": "Skin tags", "HP:0010610": "Palmar pits", "HP:0010612": "Plantar pits", "HP:0010614": "Fibroma", "HP:0010615": "Angiofibromas", "HP:0010616": "Lung fibroma", "HP:0010617": "Cardiac fibroma", "HP:0010618": "Ovarian fibroma", "HP:0010619": "Fibroadenoma of the breast", "HP:0010620": "Malar prominence", "HP:0010621": "Cutaneous syndactyly of toes", "HP:0010622": "Neoplasm of the skeletal system", "HP:0010624": "Aplastic/hypoplastic toenail", "HP:0010625": "Anterior pituitary dysgenesis", "HP:0010626": "Anterior pituitary agenesis", "HP:0010627": "Anterior pituitary hypoplasia", "HP:0010628": "Facial palsy", "HP:0010629": "Abnormal morphology of the cortex of the humerus", "HP:0010630": "Abnormal metatarsal epiphysis morphology", "HP:0010631": "Abnormality of the epiphyses of the feet", "HP:0010632": "Total anosmia", "HP:0010633": "Partial anosmia", "HP:0010634": "Total hyposmia", "HP:0010635": "Partial hyposmia", "HP:0010636": "Schizencephaly", "HP:0010637": "Conjunctival amyloidosis", "HP:0010638": "Elevated alkaline phosphatase of hepatic origin", "HP:0010639": "Elevated alkaline phosphatase of bone origin", "HP:0010640": "Abnormality of the nasal cavity", "HP:0010641": "Abnormality of the midnasal cavity", "HP:0010643": "Midnasal atresia", "HP:0010644": "Midnasal stenosis", "HP:0010645": "Aplasia of the distal phalanges of the toes", "HP:0010646": "Cervical spine instability", "HP:0010647": "Abnormal elasticity of skin", "HP:0010648": "Dermal translucency", "HP:0010649": "Flat nasal alae", "HP:0010650": "Hypoplasia of the premaxilla", "HP:0010651": "Abnormal meningeal morphology", "HP:0010652": "Abnormal dura mater morphology", "HP:0010653": "Abnormality of the falx cerebri", "HP:0010654": "Aplasia of the falx cerebri", "HP:0010655": "Epiphyseal stippling", "HP:0010656": "Abnormal epiphyseal ossification", "HP:0010657": "Patchy reduction of bone mineral density", "HP:0010658": "Patchy changes of bone mineral density", "HP:0010659": "Patchy variation in bone mineral density", "HP:0010660": "Abnormal hand bone ossification", "HP:0010661": "Absence of the third cerebral ventricle", "HP:0010662": "Abnormality of the diencephalon", "HP:0010663": "Abnormality of thalamus morphology", "HP:0010664": "Fusion of the left and right thalami", "HP:0010665": "Bilateral coxa valga", "HP:0010666": "Hypoplasia of the anterior nasal spine", "HP:0010667": "Aplasia of the maxilla", "HP:0010668": "Abnormal zygomatic bone morphology", "HP:0010669": "Hypoplasia of the zygomatic bone", "HP:0010672": "Abnormality of the third metatarsal bone", "HP:0010674": "Abnormal curvature of the vertebral column", "HP:0010675": "Abnormal foot bone ossification", "HP:0010676": "Mechanical ileus", "HP:0010677": "Enuresis nocturna", "HP:0010678": "Enuresis diurna", "HP:0010679": "Elevated tissue non-specific alkaline phosphatase", "HP:0010680": "Elevated alkaline phosphatase of renal origin", "HP:0010681": "Elevated intestinal alkaline phosphatase", "HP:0010682": "Elevated placental alkaline phosphatase", "HP:0010683": "Low tissue non-specific alkaline phosphatase", "HP:0010684": "Low alkaline phosphatase of bone origin", "HP:0010685": "Low alkaline phosphatase of renal origin", "HP:0010686": "Low alkaline phosphatase of hepatic origin", "HP:0010687": "Low intestinal alkaline phosphatase", "HP:0010688": "Low placental alkaline phosphatase", "HP:0010689": "Mirror image polydactyly", "HP:0010690": "Mirror image hand polydactyly", "HP:0010691": "Mirror image foot polydactyly", "HP:0010692": "2-5 finger syndactyly", "HP:0010693": "Pulverulent cataract", "HP:0010694": "Lamellar pulverulent cataract", "HP:0010695": "Sutural cataract", "HP:0010696": "Polar cataract", "HP:0010697": "Anterior pyramidal cataract", "HP:0010698": "Nuclear pulverulent cataract", "HP:0010699": "Triangular nuclear cataract", "HP:0010701": "Abnormal immunoglobulin level", "HP:0010702": "Increased circulating antibody level", "HP:0010704": "1-2 finger syndactyly", "HP:0010705": "4-5 finger syndactyly", "HP:0010706": "1-3 finger syndactyly", "HP:0010707": "1-4 finger syndactyly", "HP:0010708": "1-5 finger syndactyly", "HP:0010709": "2-4 finger syndactyly", "HP:0010710": "3-5 finger syndactyly", "HP:0010711": "1-2 toe syndactyly", "HP:0010712": "1-4 toe syndactyly", "HP:0010713": "1-5 toe syndactyly", "HP:0010714": "2-4 toe syndactyly", "HP:0010715": "2-5 toe syndactyly", "HP:0010716": "3-5 toe syndactyly", "HP:0010717": "Osseous syndactyly of toes", "HP:0010719": "Abnormality of hair texture", "HP:0010720": "Abnormal hair pattern", "HP:0010721": "Abnormal hair whorl", "HP:0010722": "Asymmetry of the ears", "HP:0010723": "Cystic lesions of the pinnae", "HP:0010724": "Advanced pneumatization of the mastoid process", "HP:0010726": "Prominent corneal nerve fibers", "HP:0010727": "Spontaneous rupture of the globe", "HP:0010728": "Aplasia of the retina", "HP:0010729": "Cherry red spot of the macula", "HP:0010730": "Double eyebrow", "HP:0010731": "Extension of eyebrows towards upper eyelid", "HP:0010732": "Nodular changes affecting the eyelids", "HP:0010733": "Naevus flammeus of the eyelid", "HP:0010734": "Fibrous dysplasia of the bones", "HP:0010735": "Polyostotic fibrous dysplasia", "HP:0010736": "Monostotic fibrous dysplasia", "HP:0010739": "Osteopoikilosis", "HP:0010740": "Osteopathia striata", "HP:0010741": "Pedal edema", "HP:0010742": "Edema of the upper limbs", "HP:0010743": "Short metatarsal", "HP:0010744": "Absent metatarsal bone", "HP:0010745": "Aplasia of the phalanges of the toes", "HP:0010746": "Hypoplasia of the phalanges of the toes", "HP:0010747": "Medial flaring of the eyebrow", "HP:0010748": "Ectopic lacrimal punctum", "HP:0010749": "Blepharochalasis", "HP:0010750": "Dermatochalasis", "HP:0010751": "Dimple chin", "HP:0010752": "Cleft mandible", "HP:0010753": "Midline defect of mandible", "HP:0010754": "Abnormality of the temporomandibular joint", "HP:0010755": "Asymmetry of the maxilla", "HP:0010756": "Aplasia/Hypoplasia of the premaxilla", "HP:0010757": "Aplasia of the premaxilla", "HP:0010758": "Abnormality of the premaxilla", "HP:0010759": "Prominence of the premaxilla", "HP:0010760": "Absent toe", "HP:0010761": "Broad columella", "HP:0010762": "Chordoma", "HP:0010763": "Low insertion of columella", "HP:0010764": "Short eyelashes", "HP:0010765": "Palmar hyperkeratosis", "HP:0010766": "Ectopic calcification", "HP:0010767": "Sacrococcygeal pilonidal abnormality", "HP:0010769": "Pilonidal sinus", "HP:0010770": "Pilonidal fistula", "HP:0010771": "Pilonidal abscess", "HP:0010772": "Anomalous pulmonary venous return", "HP:0010773": "Partial anomalous pulmonary venous return", "HP:0010774": "Cor triatriatum", "HP:0010775": "Vascular ring", "HP:0010776": "Tracheobronchmegaly", "HP:0010777": "Bronchomegaly", "HP:0010778": "Tracheomegaly", "HP:0010779": "Large pelvis bone", "HP:0010780": "Hyperacusis", "HP:0010781": "Skin dimple", "HP:0010782": "Shoulder dimple", "HP:0010783": "Erythema", "HP:0010784": "Uterine neoplasm", "HP:0010785": "Gonadal neoplasm", "HP:0010786": "Urinary tract neoplasm", "HP:0010787": "Genital neoplasm", "HP:0010788": "Testicular neoplasm", "HP:0010789": "Abnormality of the Leydig cells", "HP:0010790": "Hyoplasia of the Leydig cells", "HP:0010791": "Hyperplasia of the Leydig cells", "HP:0010793": "Bifid nail", "HP:0010794": "Impaired visuospatial constructive cognition", "HP:0010795": "Cerebellar glioma", "HP:0010796": "Brainstem glioma", "HP:0010797": "Hemangioblastoma", "HP:0010798": "Lip freckle", "HP:0010799": "Pinealoma", "HP:0010800": "Absent cupid's bow", "HP:0010801": "Underdeveloped nasolabial fold", "HP:0010802": "Perioral hyperpigmentation", "HP:0010803": "Everted upper lip vermilion", "HP:0010804": "Tented upper lip vermilion", "HP:0010805": "Upturned corners of mouth", "HP:0010806": "U-Shaped upper lip vermilion", "HP:0010807": "Open bite", "HP:0010808": "Protruding tongue", "HP:0010809": "Broad uvula", "HP:0010810": "Long uvula", "HP:0010811": "Narrow uvula", "HP:0010812": "Short uvula", "HP:0010813": "Abnormal number of hair whorls", "HP:0010814": "Abnormal position of hair whorl", "HP:0010815": "Nevus sebaceous", "HP:0010816": "Epidermal nevus", "HP:0010817": "Linear nevus sebaceous", "HP:0010818": "Generalized tonic seizure", "HP:0010819": "Atonic seizure", "HP:0010820": "Focal emotional seizure with crying", "HP:0010821": "Focal emotional seizure with laughing", "HP:0010822": "Scintillating scotoma", "HP:0010823": "Ridged cranial sutures", "HP:0010824": "Abnormal fifth cranial nerve morphology", "HP:0010825": "Abnormality of the eleventh cranial nerve", "HP:0010826": "Abnormality of the twelfth cranial nerve", "HP:0010827": "Abnormality of the seventh cranial nerve", "HP:0010828": "Hemifacial spasm", "HP:0010829": "Impaired temperature sensation", "HP:0010830": "Impaired tactile sensation", "HP:0010831": "Impaired proprioception", "HP:0010832": "Abnormality of pain sensation", "HP:0010833": "Spontaneous pain sensation", "HP:0010834": "Trophic changes related to pain", "HP:0010835": "Dissociated sensory loss", "HP:0010836": "Abnormal circulating copper concentration", "HP:0010837": "Decreased circulating ceruloplasmin concentration", "HP:0010838": "High nonceruloplasmin-bound serum copper", "HP:0010839": "Increased urinary copper concentration", "HP:0010841": "Multifocal epileptiform discharges", "HP:0010843": "EEG with focal slow activity", "HP:0010844": "EEG with multifocal slow activity", "HP:0010845": "EEG with generalized slow activity", "HP:0010846": "EEG with persistent abnormal rhythmic activity", "HP:0010847": "EEG with spike-wave complexes (<2.5 Hz)", "HP:0010848": "EEG with spike-wave complexes (2.5-3.5 Hz)", "HP:0010849": "EEG with spike-wave complexes (>3.5 Hz)", "HP:0010850": "EEG with spike-wave complexes", "HP:0010851": "EEG with burst suppression", "HP:0010852": "EEG with photoparoxysmal response", "HP:0010853": "EEG with periodic lateralized epileptiform discharges", "HP:0010854": "EEG with generalized low amplitude activity", "HP:0010855": "EEG with localized low amplitude activity", "HP:0010856": "EEG with periodic complexes", "HP:0010857": "EEG with periodic abnormalities", "HP:0010858": "EEG with hyperventilation-induced epileptiform discharges", "HP:0010859": "Frank breech presentation", "HP:0010860": "Complete breech presentation", "HP:0010861": "Incomplete breech presentation", "HP:0010862": "Delayed fine motor development", "HP:0010863": "Receptive language delay", "HP:0010864": "Intellectual disability, severe", "HP:0010865": "Oppositional defiant disorder", "HP:0010866": "Abdominal wall defect", "HP:0010867": "Dyssynergia", "HP:0010868": "Ocular dyssynergia", "HP:0010869": "Asynergia", "HP:0010871": "Sensory ataxia", "HP:0010872": "T-wave inversion", "HP:0010873": "Cervical spinal cord atrophy", "HP:0010874": "Tendon xanthomatosis", "HP:0010875": "Chaddock reflex", "HP:0010876": "Abnormal circulating protein concentration", "HP:0010877": "Monocular strabismus", "HP:0010878": "Fetal cystic hygroma", "HP:0010879": "Postnatal cystic hygroma", "HP:0010880": "Increased nuchal translucency", "HP:0010881": "Abnormality of the umbilical cord", "HP:0010882": "Pulmonary valve atresia", "HP:0010883": "Aortic valve atresia", "HP:0010884": "Acromelia", "HP:0010885": "Avascular necrosis", "HP:0010886": "Osteochondritis dissecans", "HP:0010888": "Morbus Koehler", "HP:0010889": "Morbus Kienboeck", "HP:0010890": "Morbus Osgood-Schlatter", "HP:0010891": "Morbus Scheuermann", "HP:0010892": "Abnormal circulating branched chain amino acid concentration", "HP:0010893": "Abnormal circulating phenylalanine concentration", "HP:0010894": "Abnormal circulating serine family amino acid concentration", "HP:0010895": "Abnormal circulating glycine concentration", "HP:0010896": "Hypersarcosinemia", "HP:0010897": "Hypersarcosinuria", "HP:0010898": "Abnormal circulating sarcosine concentration", "HP:0010899": "Abnormal circulating aspartate family amino acid concentration", "HP:0010900": "Abnormal circulating threonine concentration", "HP:0010901": "Abnormal circulating methionine concentration", "HP:0010902": "Abnormal circulating glutamine family amino acid concentration", "HP:0010903": "Abnormal circulating glutamine concentration", "HP:0010904": "Abnormal circulating histidine concentration", "HP:0010906": "Hyperhistidinemia", "HP:0010907": "Abnormal circulating proline concentration", "HP:0010908": "Abnormal circulating lysine concentration", "HP:0010909": "Abnormal circulating arginine concentration", "HP:0010910": "Hypervalinemia", "HP:0010911": "Hyperleucinemia", "HP:0010912": "Abnormal circulating isoleucine concentration", "HP:0010913": "Hyperisoleucinemia", "HP:0010914": "Abnormal circulating valine concentration", "HP:0010915": "Abnormal circulating pyruvate family amino acid concentration", "HP:0010916": "Abnormal circulating alanine concentration", "HP:0010917": "Abnormal circulating tyrosine concentration", "HP:0010918": "Abnormal circulating cysteine concentration", "HP:0010919": "Abnormal circulating homocysteine concentration", "HP:0010920": "Zonular cataract", "HP:0010921": "Coralliform cataract", "HP:0010922": "Membranous cataract", "HP:0010923": "Anterior subcapsular cataract", "HP:0010924": "Posterior cortical cataract", "HP:0010925": "Nuclear punctate cataract", "HP:0010926": "Aculeiform cataract", "HP:0010927": "Abnormal blood inorganic cation concentration", "HP:0010929": "Abnormal blood cation concentration", "HP:0010930": "Abnormal blood monovalent inorganic cation concentration", "HP:0010931": "Abnormal blood sodium concentration", "HP:0010932": "Abnormal circulating nucleobase concentration", "HP:0010933": "Hyperxanthinemia", "HP:0010934": "Xanthinuria", "HP:0010935": "Abnormality of the upper urinary tract", "HP:0010936": "Abnormality of the lower urinary tract", "HP:0010937": "Abnormal nasal skeleton morphology", "HP:0010938": "Abnormal external nose morphology", "HP:0010939": "Abnormal nasal bone morphology", "HP:0010940": "Aplasia/Hypoplasia of the nasal bone", "HP:0010941": "Aplasia of the nasal bone", "HP:0010942": "Echogenic intracardiac focus", "HP:0010943": "Echogenic fetal bowel", "HP:0010944": "Abnormal renal pelvis morphology", "HP:0010945": "Fetal pyelectasis", "HP:0010946": "Dilatation of the renal pelvis", "HP:0010947": "Abnormality of ductus venosus blood flow", "HP:0010948": "Abnormal fetal cardiovascular morphology", "HP:0010949": "Abnormality of umbilical vein blood flow", "HP:0010950": "Abnormal fourth ventricle morphology", "HP:0010951": "Abnormal third ventricle morphology", "HP:0010952": "Mild fetal ventriculomegaly", "HP:0010953": "Noncommunicating hydrocephalus", "HP:0010954": "Hypoplastic right heart", "HP:0010955": "Dilatation of the bladder", "HP:0010956": "Fetal megacystis", "HP:0010957": "Congenital posterior urethral valve", "HP:0010958": "Bilateral renal agenesis", "HP:0010959": "Congenital pulmonary airway malformation", "HP:0010960": "Bronchopulmonary sequestration", "HP:0010961": "Intralobar sequestration", "HP:0010962": "Extralobar sequestration", "HP:0010963": "Absence of stomach bubble on fetal sonography", "HP:0010964": "Abnormal circulating long-chain fatty-acid concentration", "HP:0010965": "Abnormal circulating phytanic acid concentration", "HP:0010966": "Abnormal circulating fatty-acid anion concentration", "HP:0010967": "Abnormal circulating carnitine concentration", "HP:0010968": "Abnormality of liposaccharide metabolism", "HP:0010969": "Abnormality of glycolipid metabolism", "HP:0010970": "Blood group antigen abnormality", "HP:0010971": "Absence of Lutheran antigen on erythrocytes", "HP:0010972": "Anemia of inadequate production", "HP:0010974": "Abnormal myeloid leukocyte morphology", "HP:0010975": "Abnormal B cell count", "HP:0010976": "B lymphocytopenia", "HP:0010977": "Abnormal phagocytosis", "HP:0010978": "Abnormality of immune system physiology", "HP:0010979": "Abnormality of lipoprotein cholesterol concentration", "HP:0010980": "Hyperlipoproteinemia", "HP:0010981": "Hypolipoproteinemia", "HP:0010982": "Polygenic inheritance", "HP:0010983": "Oligogenic inheritance", "HP:0010984": "Digenic inheritance", "HP:0010987": "Abnormal cellular immune system morphology", "HP:0010988": "Abnormality of the extrinsic pathway", "HP:0010989": "Abnormality of the intrinsic pathway", "HP:0010990": "Abnormality of the common coagulation pathway", "HP:0010991": "Abnormal morphology of the abdominal musculature", "HP:0010992": "Stress urinary incontinence", "HP:0010993": "Abnormal cerebral subcortex morphology", "HP:0010994": "Abnormal corpus striatum morphology", "HP:0010995": "Abnormal circulating dicarboxylic acid concentration", "HP:0010996": "Abnormal circulating monocarboxylic acid concentration", "HP:0010997": "Chromosomal breakage induced by ionizing radiation", "HP:0010998": "Increased susceptibility to spontaneous sister chromatid exchange", "HP:0010999": "Aplasia of the optic tract", "HP:0011000": "Aplasia/Hypoplasia of the optic tract", "HP:0011001": "Increased bone mineral density", "HP:0011002": "Osteopetrosis", "HP:0011003": "High myopia", "HP:0011004": "Abnormal systemic arterial morphology", "HP:0011005": "Mixed cirrhosis", "HP:0011006": "Abnormal morphology of the musculature of the neck", "HP:0011008": "Temporal pattern", "HP:0011009": "Acute", "HP:0011010": "Chronic", "HP:0011011": "Subacute", "HP:0011012": "Abnormal circulating polysaccharide concentration", "HP:0011013": "Abnormal circulating carbohydrate concentration", "HP:0011014": "Abnormal glucose homeostasis", "HP:0011015": "Abnormal blood glucose concentration", "HP:0011017": "Abnormal cellular physiology", "HP:0011018": "Abnormality of the cell cycle", "HP:0011019": "Abnormality of chromosome condensation", "HP:0011020": "Abnormality of mucopolysaccharide metabolism", "HP:0011021": "Abnormality of circulating enzyme level", "HP:0011022": "Abnormal circulating unsaturated fatty acid concentration", "HP:0011023": "Abnormal circulating prostaglandin circulation", "HP:0011024": "Abnormality of the gastrointestinal tract", "HP:0011025": "Abnormal cardiovascular system physiology", "HP:0011026": "Aplasia/Hypoplasia of the vagina", "HP:0011027": "Abnormal fallopian tube morphology", "HP:0011028": "Abnormality of blood circulation", "HP:0011029": "Internal hemorrhage", "HP:0011030": "Abnormal blood transition element cation concentration", "HP:0011031": "Abnormality of iron homeostasis", "HP:0011032": "Abnormality of fluid regulation", "HP:0011033": "Impairment of fructose metabolism", "HP:0011034": "Amyloidosis", "HP:0011035": "Abnormal renal cortex morphology", "HP:0011036": "Abnormality of renal excretion", "HP:0011037": "Decreased urine output", "HP:0011038": "Abnormal renal tubular resorption", "HP:0011039": "Abnormal helix morphology", "HP:0011040": "Abnormal intrahepatic bile duct morphology", "HP:0011041": "Aplasia/Hypoplasia of the cervical spine", "HP:0011042": "Abnormal blood potassium concentration", "HP:0011043": "Abnormal circulating adrenocorticotropin concentration", "HP:0011044": "Abnormal number of permanent teeth", "HP:0011045": "Agenesis of permanent maxillary central incisor", "HP:0011046": "Agenesis of primary maxillary central incisor", "HP:0011047": "Agenesis of primary mandibular central incisor", "HP:0011048": "Agenesis of permanent mandibular central incisor", "HP:0011049": "Agenesis of primary maxillary lateral incisor", "HP:0011050": "Agenesis of permanent maxillary lateral incisor", "HP:0011051": "Agenesis of premolar", "HP:0011052": "Agenesis of maxillary premolar", "HP:0011053": "Agenesis of mandibular premolar", "HP:0011054": "Agenesis of molar", "HP:0011055": "Agenesis of permanent molar", "HP:0011056": "Agenesis of first permanent molar tooth", "HP:0011057": "Agenesis of second permanent molar", "HP:0011058": "Generalized periodontitis", "HP:0011059": "Localized periodontitis", "HP:0011060": "Dentinogenesis imperfecta limited to primary teeth", "HP:0011061": "Abnormality of dental structure", "HP:0011062": "Misalignment of incisors", "HP:0011063": "Abnormal incisor morphology", "HP:0011064": "Abnormal number of incisors", "HP:0011065": "Conical incisor", "HP:0011067": "Mesiodens", "HP:0011068": "Odontoma", "HP:0011069": "Supernumerary tooth", "HP:0011070": "Abnormal molar morphology", "HP:0011071": "Abnormality of permanent molar morphology", "HP:0011072": "Rootless teeth", "HP:0011073": "Abnormality of dental color", "HP:0011074": "Localized hypoplasia of dental enamel", "HP:0011075": "Green teeth", "HP:0011076": "Abnormality of premolar", "HP:0011077": "Abnormality of molar", "HP:0011078": "Abnormality of canine", "HP:0011079": "Impacted tooth", "HP:0011080": "Abnormal premolar morphology", "HP:0011081": "Incisor macrodontia", "HP:0011082": "Conical primary incisor", "HP:0011083": "Conical maxillary incisor", "HP:0011084": "Hypocalcification of dental enamel", "HP:0011085": "Hypomature dental enamel", "HP:0011086": "Dentinogenesis imperfecta of primary and permanent teeth", "HP:0011087": "Talon cusp", "HP:0011088": "Dens in dente", "HP:0011089": "Double tooth", "HP:0011090": "Fused teeth", "HP:0011091": "Gemination", "HP:0011092": "Mulberry molar", "HP:0011093": "Molarization of premolar", "HP:0011094": "Increased overbite", "HP:0011095": "Overjet", "HP:0011096": "Peripheral demyelination", "HP:0011097": "Epileptic spasm", "HP:0011098": "Speech apraxia", "HP:0011099": "Spastic hemiparesis", "HP:0011100": "Intestinal atresia", "HP:0011102": "Ileal atresia", "HP:0011103": "Abnormal left ventricular outflow tract morphology", "HP:0011104": "Abnormality of blood volume homeostasis", "HP:0011105": "Hypervolemia", "HP:0011106": "Hypovolemia", "HP:0011107": "Recurrent aphthous stomatitis", "HP:0011108": "Recurrent sinusitis", "HP:0011109": "Chronic sinusitis", "HP:0011110": "Recurrent tonsillitis", "HP:0011111": "Abnormality of immune serum protein physiology", "HP:0011112": "Abnormality of serum cytokine level", "HP:0011113": "Abnormality of cytokine secretion", "HP:0011114": "Defective production of NFKB1-dependent cytokines", "HP:0011115": "Abnormality of chemokine secretion", "HP:0011116": "Abnormality of interferon secretion", "HP:0011117": "Abnormality of interleukin secretion", "HP:0011118": "Abnormality of tumor necrosis factor secretion", "HP:0011119": "Abnormal nasal dorsum morphology", "HP:0011120": "Concave nasal ridge", "HP:0011121": "Abnormality of skin morphology", "HP:0011122": "Abnormality of skin physiology", "HP:0011123": "Inflammatory abnormality of the skin", "HP:0011124": "Abnormal epidermal morphology", "HP:0011125": "Abnormality of dermal melanosomes", "HP:0011126": "Nephroptosis", "HP:0011127": "Perioral eczema", "HP:0011128": "Acute esophageal necrosis", "HP:0011129": "Bilateral fetal pyelectasis", "HP:0011130": "Abnormal renal calyx morphology", "HP:0011131": "Perianal dermatitis", "HP:0011132": "Chronic furunculosis", "HP:0011133": "Increased sensitivity to ionizing radiation", "HP:0011134": "Low-grade fever", "HP:0011135": "Aplasia/Hypoplasia of the sweat glands", "HP:0011136": "Aplasia of the sweat glands", "HP:0011137": "Non-pruritic urticaria", "HP:0011138": "Abnormality of skin adnexa morphology", "HP:0011139": "Gastric duplication", "HP:0011140": "Gastrointestinal duplication", "HP:0011141": "Age-related cataract", "HP:0011142": "Age-related nuclear cataract", "HP:0011143": "Age-related cortical cataract", "HP:0011144": "Age-related posterior subcapsular cataract", "HP:0011145": "Symptomatic seizures", "HP:0011146": "Dialeptic seizure", "HP:0011147": "Typical absence seizure", "HP:0011149": "Absence seizure with eyelid myoclonia", "HP:0011150": "Myoclonic absence seizure", "HP:0011151": "Atypical absence status epilepticus", "HP:0011152": "Early onset absence seizures", "HP:0011153": "Focal motor seizure", "HP:0011154": "Focal autonomic seizure", "HP:0011157": "Focal sensory seizure", "HP:0011158": "Focal sensory seizure with auditory features", "HP:0011159": "Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "HP:0011160": "Focal sensory seizure with gustatory features", "HP:0011161": "Focal sensory seizure with olfactory features", "HP:0011163": "Focal sensory seizure with somatosensory features", "HP:0011165": "Focal sensory seizure with visual features", "HP:0011166": "Focal myoclonic seizure", "HP:0011167": "Focal tonic seizure", "HP:0011168": "Focal seizure with eyelid myoclonia", "HP:0011169": "Generalized clonic seizure", "HP:0011170": "Generalized myoclonic-atonic seizure", "HP:0011171": "Simple febrile seizure", "HP:0011172": "Complex febrile seizure", "HP:0011173": "Focal behavior arrest seizure", "HP:0011174": "Focal hyperkinetic seizure", "HP:0011175": "Focal motor seizure with version", "HP:0011176": "EEG with constitutional variants", "HP:0011177": "EEG with 4-5/second background activity", "HP:0011178": "Alpha-EEG", "HP:0011179": "Beta-EEG", "HP:0011180": "Partial beta-EEG", "HP:0011181": "Low voltage EEG", "HP:0011182": "Interictal epileptiform activity", "HP:0011183": "EEG with hyperventilation-induced focal epileptiform discharges", "HP:0011184": "EEG with hyperventilation-induced generalized epileptiform discharges", "HP:0011185": "EEG with focal epileptiform discharges", "HP:0011186": "Focal epileptiform discharges with limited propagation to contralateral hemisphere", "HP:0011187": "Focal EEG discharges with propagation to ipsilateral hemisphere", "HP:0011188": "Focal EEG discharges with secondary generalization", "HP:0011189": "Bilateral multifocal epileptiform discharges", "HP:0011190": "Uni- and bilateral multifocal epileptiform discharges", "HP:0011191": "Unilateral multifocal epileptiform discharges", "HP:0011192": "Polymorphic focal epileptiform discharges", "HP:0011193": "EEG with focal spikes", "HP:0011194": "EEG with series of focal spikes", "HP:0011195": "EEG with focal sharp slow waves", "HP:0011196": "EEG with focal sharp waves", "HP:0011197": "EEG with focal spike waves", "HP:0011198": "EEG with generalized epileptiform discharges", "HP:0011199": "EEG with generalized sharp slow waves", "HP:0011200": "EEG with generalized polymorphic epileptiform discharges", "HP:0011201": "EEG with changes in voltage", "HP:0011202": "EEG with diffuse acceleration", "HP:0011203": "EEG with abnormally slow frequencies", "HP:0011204": "EEG with continuous slow activity", "HP:0011205": "EEG with intermittent slow activity", "HP:0011206": "EEG with generalized slow activity grade 1", "HP:0011207": "EEG with generalized slow activity grade 2", "HP:0011208": "EEG with generalized slow activity grade 3", "HP:0011209": "EEG with generalized slow activity grade 4", "HP:0011210": "EEG with occipital slowing", "HP:0011211": "EEG with photoparoxysmal response grade I", "HP:0011212": "EEG with photoparoxysmal response grade II", "HP:0011213": "EEG with photoparoxysmal response grade III", "HP:0011214": "EEG with photoparoxysmal response grade IV", "HP:0011215": "Hemihypsarrhythmia", "HP:0011217": "Abnormal shape of the occiput", "HP:0011218": "Abnormal shape of the frontal region", "HP:0011219": "Short face", "HP:0011220": "Prominent forehead", "HP:0011221": "Vertical forehead creases", "HP:0011222": "Depressed glabella", "HP:0011223": "Metopic depression", "HP:0011224": "Ablepharon", "HP:0011225": "Epiblepharon", "HP:0011226": "Aplasia/Hypoplasia of the eyelid", "HP:0011227": "Elevated circulating C-reactive protein concentration", "HP:0011228": "Horizontal eyebrow", "HP:0011229": "Broad eyebrow", "HP:0011230": "Laterally extended eyebrow", "HP:0011231": "Prominent eyelashes", "HP:0011232": "Infra-orbital fold", "HP:0011233": "Antihelical shelf", "HP:0011234": "Absent antihelix", "HP:0011235": "Additional crus of antihelix", "HP:0011236": "Angulated antihelix", "HP:0011237": "Broad inferior crus of antihelix", "HP:0011238": "Prominent inferior crus of antihelix", "HP:0011239": "Underdeveloped inferior crus of antihelix", "HP:0011240": "Prominent stem of antihelix", "HP:0011241": "Serpiginous stem of antihelix", "HP:0011242": "Underdeveloped stem of antihelix", "HP:0011243": "Abnormality of inferior crus of antihelix", "HP:0011244": "Abnormality of stem of antihelix", "HP:0011245": "Abnormality of superior crus of antihelix", "HP:0011246": "Underdeveloped superior crus of antihelix", "HP:0011247": "Prominent superior crus of antihelix", "HP:0011248": "Everted antitragus", "HP:0011249": "Absent antitragus", "HP:0011250": "Bifid antitragus", "HP:0011251": "Underdeveloped antitragus", "HP:0011252": "Cryptotia", "HP:0011253": "Type I cryptotia", "HP:0011254": "Type II cryptotia", "HP:0011255": "Absent crus of helix", "HP:0011256": "Crus of helix connected to antihelix", "HP:0011257": "Serpiginous crus of helix", "HP:0011258": "Tragal bridge of crus of helix", "HP:0011259": "Expanded terminal portion of crus of helix", "HP:0011260": "Darwin notch of helix", "HP:0011261": "Darwin tubercle of helix", "HP:0011262": "Crimped helix", "HP:0011263": "Forward facing earlobe", "HP:0011264": "Discontinuous ascending root of helix", "HP:0011265": "Cleft earlobe", "HP:0011266": "Microtia, first degree", "HP:0011267": "Microtia, third degree", "HP:0011268": "Absent tragus", "HP:0011269": "Bifid tragus", "HP:0011270": "Duplicated tragus", "HP:0011271": "Prominent tragus", "HP:0011272": "Underdeveloped tragus", "HP:0011273": "Anisocytosis", "HP:0011274": "Recurrent mycobacterial infections", "HP:0011275": "Recurrent mycobacterium avium complex infections", "HP:0011276": "Vascular skin abnormality", "HP:0011277": "Abnormality of the urinary system physiology", "HP:0011278": "Intrapulmonary sequestration", "HP:0011279": "Abnormality of urine bicarbonate level", "HP:0011280": "Abnormality of urine calcium concentration", "HP:0011281": "Abnormality of urine catecholamine level", "HP:0011282": "Abnormal hindbrain morphology", "HP:0011283": "Abnormal metencephalon morphology", "HP:0011284": "Short-segment aganglionic megacolon", "HP:0011285": "Long-segment aganglionic megacolon", "HP:0011286": "Total colonic aganglionosis", "HP:0011287": "EEG with occipital sharp slow waves", "HP:0011288": "EEG with parietal sharp slow waves", "HP:0011289": "EEG with temporal sharp slow waves", "HP:0011290": "EEG with frontal sharp slow waves", "HP:0011291": "EEG with central sharp slow waves", "HP:0011292": "EEG with occipital sharp waves", "HP:0011293": "EEG with central sharp waves", "HP:0011294": "EEG with frontal sharp waves", "HP:0011295": "EEG with parietal sharp waves", "HP:0011296": "EEG with temporal sharp waves", "HP:0011297": "Abnormal digit morphology", "HP:0011298": "Prominent digit pad", "HP:0011299": "Partial absence of finger", "HP:0011300": "Broad fingertip", "HP:0011301": "Absent foot", "HP:0011302": "Long palm", "HP:0011303": "Convex contour of sole", "HP:0011304": "Broad thumb", "HP:0011305": "Partial absence of toe", "HP:0011307": "Splayed toes", "HP:0011308": "Slender toe", "HP:0011309": "Tapered toe", "HP:0011310": "Bridged palmar crease", "HP:0011311": "Sydney crease", "HP:0011312": "Fused nails", "HP:0011313": "Narrow nail", "HP:0011314": "Abnormal long bone morphology", "HP:0011315": "Unicoronal synostosis", "HP:0011316": "Left unicoronal synostosis", "HP:0011317": "Right unicoronal synostosis", "HP:0011318": "Bicoronal synostosis", "HP:0011319": "Bilambdoid synostosis", "HP:0011320": "Unilambdoid synostosis", "HP:0011321": "Left unilambdoid synostosis", "HP:0011322": "Right unilambdoid synostosis", "HP:0011323": "Cleft of chin", "HP:0011324": "Multiple suture craniosynostosis", "HP:0011325": "Pansynostosis", "HP:0011326": "Anterior plagiocephaly", "HP:0011327": "Posterior plagiocephaly", "HP:0011328": "Abnormality of fontanelles", "HP:0011329": "Abnormality of cranial sutures", "HP:0011330": "Metopic synostosis", "HP:0011331": "Hemifacial atrophy", "HP:0011332": "Hemifacial hypoplasia", "HP:0011333": "Asymmetric crying face", "HP:0011334": "Facial shape deformation", "HP:0011335": "Frontal hirsutism", "HP:0011336": "Bitemporal forceps marks", "HP:0011337": "Abnormality of mouth size", "HP:0011338": "Abnormality of mouth shape", "HP:0011339": "Abnormality of upper lip vermillion", "HP:0011340": "Incomplete cleft of the upper lip", "HP:0011341": "Long upper lip", "HP:0011342": "Mild global developmental delay", "HP:0011343": "Moderate global developmental delay", "HP:0011344": "Severe global developmental delay", "HP:0011345": "Moderate expressive language delay", "HP:0011346": "Mild expressive language delay", "HP:0011347": "Abnormality of ocular abduction", "HP:0011348": "Abnormal sixth cranial nerve morphology", "HP:0011350": "Mild receptive language delay", "HP:0011351": "Moderate receptive language delay", "HP:0011352": "Severe receptive language delay", "HP:0011353": "Arterial intimal fibrosis", "HP:0011354": "Generalized abnormality of skin", "HP:0011355": "Localized skin lesion", "HP:0011356": "Regional abnormality of skin", "HP:0011358": "Generalized hypopigmentation of hair", "HP:0011359": "Dry hair", "HP:0011360": "Acquired abnormal hair pattern", "HP:0011361": "Congenital abnormal hair pattern", "HP:0011362": "Abnormal hair quantity", "HP:0011363": "Abnormality of hair growth rate", "HP:0011364": "White hair", "HP:0011365": "Patchy hypopigmentation of hair", "HP:0011367": "Yellow nails", "HP:0011368": "Epidermal thickening", "HP:0011369": "Mongolian blue spot", "HP:0011370": "Recurrent cutaneous fungal infections", "HP:0011371": "Recurrent viral skin infections", "HP:0011372": "Aplasia of the inner ear", "HP:0011373": "Incomplete partition of the cochlea", "HP:0011374": "Incomplete partition of the cochlea type I", "HP:0011375": "Cochlear aplasia", "HP:0011376": "Morphological abnormality of the vestibule of the inner ear", "HP:0011377": "Aplasia of the vestibule", "HP:0011378": "Hypoplasia of the vestibule of the inner ear", "HP:0011379": "Dilated vestibule of the inner ear", "HP:0011380": "Morphological abnormality of the semicircular canal", "HP:0011381": "Aplasia of the semicircular canal", "HP:0011382": "Hypoplasia of the semicircular canal", "HP:0011383": "Enlarged semicircular canal", "HP:0011384": "Abnormality of the internal auditory canal", "HP:0011385": "Absent internal auditory canal", "HP:0011386": "Narrow internal auditory canal", "HP:0011387": "Enlarged vestibular aqueduct", "HP:0011388": "Enlarged cochlear aqueduct", "HP:0011389": "Functional abnormality of the inner ear", "HP:0011390": "Morphological abnormality of the inner ear", "HP:0011391": "Morphological abnormality of the nerves of the inner ear", "HP:0011392": "Abnormality of the vestibular nerve", "HP:0011393": "Aplasia of the vestibular nerve.", "HP:0011394": "Hypoplasia of the vestibular nerve", "HP:0011395": "Aplasia/Hypoplasia of the cochlea", "HP:0011396": "Abnormality of the cochlear nerve", "HP:0011397": "Abnormality of the dorsal column of the spinal cord", "HP:0011399": "Tibialis anterior muscle atrophy", "HP:0011400": "Abnormal CNS myelination", "HP:0011401": "Delayed peripheral myelination", "HP:0011402": "Demyelinating sensory neuropathy", "HP:0011403": "Abnormal umbilical cord blood vessel morphology", "HP:0011404": "Lethal short-trunk short stature", "HP:0011405": "Childhood onset short-limb short stature", "HP:0011406": "Infancy onset short-trunk short stature", "HP:0011407": "Proportionate tall stature", "HP:0011408": "Moderate intrauterine growth retardation", "HP:0011409": "Abnormal placental membrane morphology", "HP:0011410": "Caesarian section", "HP:0011411": "Forceps delivery", "HP:0011412": "Ventouse delivery", "HP:0011413": "Shoulder dystocia", "HP:0011414": "Hydropic placenta", "HP:0011415": "Calcified placenta", "HP:0011416": "Placental infarction", "HP:0011417": "Long umbilical cord", "HP:0011418": "Abnormal insertion of umbilical cord", "HP:0011419": "Placental abruption", "HP:0011420": "Age of death", "HP:0011421": "Death in adolescence", "HP:0011422": "Abnormal blood chloride concentration", "HP:0011423": "Hyperchloremia", "HP:0011424": "Increased serum zinc", "HP:0011425": "Fetal ultrasound soft marker", "HP:0011426": "Fetal choroid plexus cysts", "HP:0011427": "Enlarged fetal cisterna magna", "HP:0011428": "Short fetal femur length", "HP:0011429": "Short fetal humerus length", "HP:0011430": "Hypoplasia of fetal nasal bone", "HP:0011431": "Fetal fifth finger clinodactyly", "HP:0011432": "High maternal circulating alpha-fetoprotein concentration", "HP:0011433": "High maternal circulating chorionic gonadotropin concentration", "HP:0011434": "Low maternal circulating chorionic gonadotropin concentration", "HP:0011435": "Low maternal circulating PAPP-A concentration", "HP:0011436": "Abnormal maternal serum screening", "HP:0011437": "Maternal autoimmune disease", "HP:0011438": "Maternal teratogenic exposure", "HP:0011439": "Anesthetic-induced rhabdomylosis", "HP:0011440": "Alcohol-induced rhabdomyolysis", "HP:0011441": "Abnormal medulla oblongata morphology", "HP:0011442": "Abnormal central motor function", "HP:0011443": "Abnormality of coordination", "HP:0011444": "Decorticate rigidity", "HP:0011445": "Athetoid cerebral palsy", "HP:0011446": "Abnormality of higher mental function", "HP:0011447": "Hyposegmentation of neutrophil nuclei", "HP:0011448": "Ankle clonus", "HP:0011449": "Knee clonus", "HP:0011450": "Unusual CNS infection", "HP:0011451": "Primary microcephaly", "HP:0011452": "Functional abnormality of the middle ear", "HP:0011453": "Abnormality of the incus", "HP:0011454": "Abnormality of the malleus", "HP:0011455": "Absent malleus", "HP:0011456": "Absent stapes", "HP:0011457": "Loss of eyelashes", "HP:0011458": "Abdominal symptom", "HP:0011459": "Esophageal carcinoma", "HP:0011460": "Embryonal onset", "HP:0011461": "Fetal onset", "HP:0011462": "Young adult onset", "HP:0011463": "Childhood onset", "HP:0011464": "Aganglionosis of the small intestine", "HP:0011465": "Duodenal aganglionosis", "HP:0011466": "Aplasia/Hypoplasia of the gallbladder", "HP:0011467": "Absent gallbladder", "HP:0011468": "Facial tics", "HP:0011469": "Nasal regurgitation", "HP:0011470": "Nasogastric tube feeding in infancy", "HP:0011471": "Gastrostomy tube feeding in infancy", "HP:0011472": "Abnormality of small intestinal villus morphology", "HP:0011473": "Villous atrophy", "HP:0011474": "Childhood onset sensorineural hearing impairment", "HP:0011475": "Persistent stapedial artery", "HP:0011476": "Profound sensorineural hearing impairment", "HP:0011477": "Upbeat nystagmus", "HP:0011478": "True anophthalmia", "HP:0011479": "Abnormal lacrimal punctum morphology", "HP:0011480": "Unilateral microphthalmos", "HP:0011481": "Abnormal lacrimal duct morphology", "HP:0011482": "Abnormal lacrimal gland morphology", "HP:0011483": "Anterior synechiae of the anterior chamber", "HP:0011484": "Posterior synechiae of the anterior chamber", "HP:0011485": "Corneolenticular adhesion", "HP:0011486": "Abnormality of corneal thickness", "HP:0011487": "Increased corneal thickness", "HP:0011488": "Abnormal corneal endothelium morphology", "HP:0011489": "Abnormal migration of corneal endothelium", "HP:0011490": "Abnormal Descemet membrane morphology", "HP:0011491": "Reduced number of corneal endothelial cells", "HP:0011492": "Abnormal corneal stroma morphology", "HP:0011493": "Central opacification of the cornea", "HP:0011494": "Generalized opacification of the cornea", "HP:0011495": "Abnormal corneal epithelium morphology", "HP:0011496": "Corneal neovascularization", "HP:0011497": "Iris neovascularization", "HP:0011499": "Mydriasis", "HP:0011500": "Polycoria", "HP:0011501": "Anterior lenticonus", "HP:0011502": "Posterior lenticonus", "HP:0011503": "Aplasia of the fovea", "HP:0011504": "Bull's eye maculopathy", "HP:0011505": "Cystoid macular edema", "HP:0011506": "Choroidal neovascularization", "HP:0011507": "Macular flecks", "HP:0011508": "Macular hole", "HP:0011509": "Macular hyperpigmentation", "HP:0011510": "Drusen", "HP:0011511": "Macular schisis", "HP:0011512": "Hyperpigmentation of the fundus", "HP:0011513": "Retinal cavernous angioma", "HP:0011514": "Abnormality of binocular vision", "HP:0011515": "Abnormal stereopsis", "HP:0011516": "Achromatopsia", "HP:0011517": "Cone monochromacy", "HP:0011518": "Dichromacy", "HP:0011519": "Anomalous trichromacy", "HP:0011520": "Deuteranomaly", "HP:0011521": "Deuteranopia", "HP:0011522": "Protanopia", "HP:0011523": "Iris cyst", "HP:0011524": "Iris melanoma", "HP:0011525": "Iris nevus", "HP:0011526": "Abnormality of lens shape", "HP:0011527": "Lentiglobus", "HP:0011528": "Solitary congenital hypertrophy of retinal pigment epithelium", "HP:0011529": "Multiple bilateral congenital hypertrophy of retinal pigment epithelium", "HP:0011530": "Retinal hole", "HP:0011531": "Vitritis", "HP:0011532": "Subretinal exudate", "HP:0011533": "Snowflake vitreoretinal degeneration", "HP:0011534": "Abnormal spatial orientation of the cardiac segments", "HP:0011535": "Abnormal atrial arrangement", "HP:0011536": "Right atrial isomerism", "HP:0011537": "Left atrial isomerism", "HP:0011538": "Atrial situs inversus", "HP:0011539": "Atrial situs ambiguous", "HP:0011540": "Congenitally corrected transposition of the great arteries", "HP:0011541": "Criss-cross atrioventricular valves", "HP:0011542": "Criss-cross atrioventricular valves with superior-inferior ventricles", "HP:0011543": "Superior-inferior ventricles without criss-cross atrioventricular valves", "HP:0011544": "L-looping of the right ventricle", "HP:0011545": "Abnormal connection of the cardiac segments", "HP:0011546": "Abnormal atrioventricular connection", "HP:0011547": "Absent left sided atrioventricular connection", "HP:0011548": "Absent right sided atrioventricular connection", "HP:0011549": "Univentricular heart with absent left sided atrioventricular connection", "HP:0011550": "Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection", "HP:0011551": "Right sided atrium to left ventricle and absent left sided atrioventricular connection", "HP:0011552": "Ambiguous atrioventricular connection", "HP:0011553": "Discordant atrioventricular connection", "HP:0011554": "Double inlet atrioventricular connection", "HP:0011555": "Double inlet left ventricle", "HP:0011556": "Double inlet right ventricle", "HP:0011557": "Double inlet to single ventricle of indeterminate morphology", "HP:0011558": "Double inlet to single ventricle with common atrioventricular orifice", "HP:0011559": "Double inlet to single ventricle with two atrioventricular valves", "HP:0011560": "Mitral atresia", "HP:0011561": "Overriding atrioventricular valve", "HP:0011562": "Straddling atrioventricular valve", "HP:0011563": "Abnormal ventriculoarterial connection", "HP:0011564": "Mitral valve arcade", "HP:0011565": "Common atrium", "HP:0011566": "Cor triatriatum dexter", "HP:0011567": "Sinus venosus atrial septal defect", "HP:0011568": "Double orifice mitral valve", "HP:0011569": "Cleft anterior mitral valve leaflet", "HP:0011570": "Congenital mitral stenosis", "HP:0011571": "Parachute mitral valve", "HP:0011572": "Supramitral ring", "HP:0011573": "Hypoplastic tricuspid valve", "HP:0011574": "Imperforate atrioventricular valve", "HP:0011575": "Imperforate tricuspid valve", "HP:0011576": "Intermediate atrioventricular canal defect", "HP:0011577": "Partial atrioventricular canal defect", "HP:0011578": "Transitional atrioventricular canal defect", "HP:0011579": "Unbalanced atrioventricular canal defect", "HP:0011580": "Short chordae tendineae of the mitral valve", "HP:0011581": "Double outlet left ventricle", "HP:0011582": "Abdominal ectopia cordis", "HP:0011583": "Cervical ectopia cordis", "HP:0011584": "Thoracocervical ectopia cordis", "HP:0011585": "Thoracic ectopia cordis", "HP:0011586": "Thoracoabdominal ectopia cordis", "HP:0011587": "Abnormal branching pattern of the aortic arch", "HP:0011588": "Cervical aortic arch", "HP:0011589": "Common origin of the right brachiocephalic artery and left common carotid artery", "HP:0011590": "Double aortic arch", "HP:0011591": "Left aortic arch with cervical origin of the right subclavian artery", "HP:0011592": "Left aortic arch with isolated subclavian artery", "HP:0011593": "Left aortic arch with retroesophageal diverticulum of Kommerell", "HP:0011594": "Right aortic arch with retroesophageal diverticulum of Kommerell", "HP:0011595": "Left aortic arch with retroesophageal right subclavian artery", "HP:0011596": "Left aortic arch with right descending aorta and right ductus arteriosus", "HP:0011597": "Right aortic arch with left descending aorta and left ductus arteriosus", "HP:0011598": "Right aortic arch with retroesophageal left subclavian artery", "HP:0011599": "Mesocardia", "HP:0011600": "Abnormal direction of ventricular apex", "HP:0011601": "Rightward direction of ventricular apex", "HP:0011602": "Midline direction of ventricular apex", "HP:0011603": "Congenital malformation of the great arteries", "HP:0011604": "Aortopulmonary window", "HP:0011605": "Congenitally corrected transposition of the great arteries with ventricular septal defect", "HP:0011608": "Type II truncus arteriosus", "HP:0011609": "Type III truncus arteriosus", "HP:0011610": "Type IV truncus arteriosus", "HP:0011611": "Interrupted aortic arch", "HP:0011612": "Interrupted aortic arch type A", "HP:0011613": "Interrupted aortic arch type B", "HP:0011614": "Interrupted aortic arch type C", "HP:0011615": "Abnormal pulmonary situs morphology", "HP:0011616": "Pulmonary situs inversus", "HP:0011617": "Pulmonary situs ambiguus", "HP:0011618": "Pulmonary situs ambiguus with bilateral morphologic right lungs", "HP:0011619": "Pulmonary situs ambiguus with bilateral morphologic left lungs", "HP:0011620": "Abnormality of abdominal situs", "HP:0011621": "Gerbode ventricular septal defect", "HP:0011622": "Inlet ventricular septal defect", "HP:0011623": "Muscular ventricular septal defect", "HP:0011624": "Apical muscular ventricular septal defect", "HP:0011625": "Multiple muscular ventricular septal defects", "HP:0011626": "Scimitar anomaly", "HP:0011627": "Aorto-ventricular tunnel", "HP:0011628": "Congenital defect of the pericardium", "HP:0011629": "Total absence of the pericardium", "HP:0011630": "Complete diaphragmatic absence of pericardium", "HP:0011631": "Complete right sided absence of pericardium", "HP:0011632": "Partial right sided absence of pericardium", "HP:0011633": "Complete left sided absence of pericardium", "HP:0011634": "Partial left sided absence of pericardium", "HP:0011635": "Partial diaphragmatic absence of pericardium", "HP:0011636": "Abnormal coronary artery origin", "HP:0011637": "Anomalous origin of coronary artery from the pulmonary artery", "HP:0011638": "Anomalous origin of left coronary artery from the pulmonary artery", "HP:0011639": "Anomalous origin of right coronary artery from the pulmonary artery", "HP:0011640": "Single coronary artery origin", "HP:0011641": "Coronary artery fistula", "HP:0011642": "Abnormal coronary sinus morphology", "HP:0011643": "Coronary sinus atrial septal defect", "HP:0011644": "Coronary sinus diverticulum", "HP:0011645": "Dilatation of the sinus of Valsalva", "HP:0011646": "Juxtaductal coarctation of the aorta", "HP:0011647": "Postductal coarctation of the aorta", "HP:0011648": "Patent ductus arteriosus after birth at term", "HP:0011649": "Patent ductus arteriosus after premature birth", "HP:0011650": "Bilateral ductus arteriosus", "HP:0011651": "Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis", "HP:0011652": "Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis", "HP:0011653": "Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis", "HP:0011654": "Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis", "HP:0011655": "Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis", "HP:0011656": "Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis", "HP:0011657": "Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis", "HP:0011658": "Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis", "HP:0011659": "Tetralogy of Fallot with absent pulmonary valve", "HP:0011660": "Anomalous origin of one pulmonary artery from ascending aorta", "HP:0011661": "Anomalous origin of left pulmonary artery from ascending aorta", "HP:0011662": "Tricuspid atresia", "HP:0011663": "Right ventricular cardiomyopathy", "HP:0011664": "Left ventricular noncompaction cardiomyopathy", "HP:0011665": "Takotsubo cardiomyopathy", "HP:0011666": "Absent right superior vena cava", "HP:0011667": "Bilateral superior vena cava with bridging vein", "HP:0011668": "Bilateral superior vena cava with no bridging vein", "HP:0011669": "Left superior vena cava draining directly to the left atrium", "HP:0011670": "Left superior vena cava draining to coronary sinus", "HP:0011671": "Interrupted inferior vena cava with azygous continuation", "HP:0011672": "Cardiac myxoma", "HP:0011673": "Cardiac hemangioma", "HP:0011674": "Cardiac teratoma", "HP:0011675": "Arrhythmia", "HP:0011676": "Tetralogy of Fallot with absent subarterial conus", "HP:0011677": "Tetralogy of Fallot with atrioventricular canal defect", "HP:0011678": "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries", "HP:0011679": "Tetralogy of Fallot with pulmonary stenosis", "HP:0011680": "Single ventricle of indeterminate morphology", "HP:0011681": "Subarterial ventricular septal defect", "HP:0011682": "Perimembranous ventricular septal defect", "HP:0011683": "Restrictive ventricular septal defect", "HP:0011684": "Non-restrictive ventricular septal defect", "HP:0011685": "Infra-aortic superior vena cava", "HP:0011686": "Abnormal coronary artery course", "HP:0011687": "AV nodal tachycardia", "HP:0011688": "Supraventricular tachycardia with an accessory connection mediated pathway", "HP:0011689": "Supraventricular tachycardia with a concealed accessory connection", "HP:0011690": "Permanent junctional reciprocating tachycardia", "HP:0011691": "Supraventricular tachycardia with a concealed accessory pathway on the left free wall", "HP:0011692": "Supraventricular tachycardia with a concealed accessory pathway on the right free wall", "HP:0011693": "Supraventricular tachycardia with a concealed accessory pathway on the septum", "HP:0011694": "Supraventricular tachycardia with a manifest accessory pathway", "HP:0011695": "Cerebellar hemorrhage", "HP:0011696": "Supraventricular tachycardia with a manifest accessory pathway on the left free wall", "HP:0011697": "Supraventricular tachycardia with a manifest accessory pathway on the right free wall", "HP:0011698": "Supraventricular tachycardia with a manifest accessory pathway on the septum", "HP:0011699": "Atrial reentry tachycardia", "HP:0011700": "Automatic atrial tachycardia", "HP:0011701": "Multifocal atrial tachycardia", "HP:0011702": "Abnormal electrophysiology of sinoatrial node origin", "HP:0011703": "Sinus tachycardia", "HP:0011704": "Sick sinus syndrome", "HP:0011705": "First degree atrioventricular block", "HP:0011706": "Second degree atrioventricular block", "HP:0011707": "Mobitz I atrioventricular block", "HP:0011708": "Mobitz II atrioventricular block", "HP:0011709": "Atrioventricular dissociation", "HP:0011710": "Bundle branch block", "HP:0011711": "Left anterior fascicular block", "HP:0011712": "Right bundle branch block", "HP:0011713": "Left bundle branch block", "HP:0011714": "Libman-Sacks lesions", "HP:0011715": "Trifascicular block", "HP:0011716": "Junctional ectopic tachycardia", "HP:0011717": "Atrioventricular reentrant tachycardia", "HP:0011718": "Abnormality of the pulmonary veins", "HP:0011719": "Supracardiac total anomalous pulmonary venous connection", "HP:0011720": "Cardiac total anomalous pulmonary venous connection", "HP:0011721": "Infracardiac total anomalous pulmonary venous connection", "HP:0011722": "Mixed total anomalous pulmonary venous connection", "HP:0011723": "Congenital malformation of the right heart", "HP:0011724": "Uhl's anomaly", "HP:0011725": "Chaotic multifocal atrial tachycardia", "HP:0011726": "Persistent fetal circulation", "HP:0011727": "Peroneal muscle weakness", "HP:0011728": "Elbow clonus", "HP:0011729": "Abnormality of joint mobility", "HP:0011730": "Abnormal central sensory function", "HP:0011731": "Abnormality of circulating cortisol level", "HP:0011732": "Abnormality of adrenal morphology", "HP:0011733": "Abnormality of adrenal physiology", "HP:0011734": "Central adrenal insufficiency", "HP:0011735": "Adrenocorticotropin deficient adrenal insufficiency", "HP:0011736": "Primary hyperaldosteronism", "HP:0011737": "Corticotropin-releasing hormone deficient adrenal insufficiency", "HP:0011738": "Corticotropin-releasing hormone receptor defect", "HP:0011739": "Dexamethasone-suppressible primary hyperaldosteronism", "HP:0011740": "Glucocortocoid-insensitive primary hyperaldosteronism", "HP:0011741": "Secondary hyperaldosteronism", "HP:0011742": "Ectopic adrenal gland", "HP:0011743": "Adrenal gland agenesis", "HP:0011744": "Secondary hypercortisolism", "HP:0011745": "Non-secretory adrenocortical adenoma", "HP:0011746": "Secretory adrenocortical adenoma", "HP:0011747": "Abnormality of the anterior pituitary", "HP:0011748": "Adrenocorticotropic hormone deficiency", "HP:0011749": "Adrenocorticotropic hormone excess", "HP:0011750": "Neoplasm of the anterior pituitary", "HP:0011751": "Abnormality of the posterior pituitary", "HP:0011752": "Neoplasm of the posterior pituitary", "HP:0011753": "Posterior pituitary dysgenesis", "HP:0011754": "Pituicytoma", "HP:0011755": "Ectopic posterior pituitary", "HP:0011756": "Posterior pituitary agenesis", "HP:0011757": "Posterior pituitary hypoplasia", "HP:0011758": "Pituitary acidophilic stem cell adenoma", "HP:0011759": "Pituitary gonadotropic cell adenoma", "HP:0011760": "Pituitary growth hormone cell adenoma", "HP:0011761": "Pituitary null cell adenoma", "HP:0011762": "Pituitary thyrotropic cell adenoma", "HP:0011763": "Pituitary carcinoma", "HP:0011764": "Pituitary spindle cell oncocytoma", "HP:0011766": "Abnormality of the parathyroid morphology", "HP:0011767": "Abnormality of the parathyroid physiology", "HP:0011768": "Parathyroid dysgenesis", "HP:0011769": "Ectopic parathyroid", "HP:0011770": "Tertiary hyperparathyroidism", "HP:0011771": "Autoimmune hypoparathyroidism", "HP:0011772": "Abnormal thyroid morphology", "HP:0011773": "Uninodular goiter", "HP:0011774": "Thyroid follicular adenoma", "HP:0011775": "Thyroid macrofollicular adenoma", "HP:0011776": "Thyroid microfollicular adenoma", "HP:0011777": "Thyroid papillary adenoma", "HP:0011778": "Thyroid atypical adenoma", "HP:0011779": "Anaplastic thyroid carcinoma", "HP:0011780": "Thyroid hemiagenesis", "HP:0011781": "Thyroid C cell hyperplasia", "HP:0011782": "Thyroid crisis", "HP:0011783": "Thyrotoxicosis from ectopic thyroid tissue", "HP:0011784": "Thyrotoxicosis with diffuse goiter", "HP:0011785": "Thyrotoxicosis with toxic multinodular goiter", "HP:0011786": "Thyrotoxicosis with toxic single thyroid nodule", "HP:0011787": "Central hypothyroidism", "HP:0011788": "Increased circulating free T3", "HP:0011789": "Impaired sensitivity to thyroid stimulating hormone", "HP:0011790": "Activating thyroid-stimulating hormone receptor defect", "HP:0011791": "Inactivating thyroid-stimulating hormone receptor defect", "HP:0011792": "Neoplasm by histology", "HP:0011793": "Neoplasm by anatomical site", "HP:0011794": "Embryonal renal neoplasm", "HP:0011795": "Intralobar nephroblastomatosis", "HP:0011796": "Perilobar nephroblastomatosis", "HP:0011797": "Papillary renal cell carcinoma type 1", "HP:0011798": "Renal oncocytoma", "HP:0011799": "Abnormality of facial soft tissue", "HP:0011800": "Midface retrusion", "HP:0011801": "Enlargement of parotid gland", "HP:0011802": "Hamartoma of tongue", "HP:0011803": "Bifid nose", "HP:0011804": "Abnormal muscle physiology", "HP:0011805": "Abnormal skeletal muscle morphology", "HP:0011807": "Type 1 muscle fiber atrophy", "HP:0011808": "Decreased patellar reflex", "HP:0011809": "Paradoxical myotonia", "HP:0011810": "Impaired two-point discrimination", "HP:0011811": "Impaired touch localization", "HP:0011812": "Agraphesthesia", "HP:0011813": "Increased cerebral lipofuscin", "HP:0011814": "Increased urinary hypoxanthine", "HP:0011815": "Cephalocele", "HP:0011816": "Parietal encephalocele", "HP:0011817": "Basal encephalocele", "HP:0011818": "Nasofrontal encephalocele", "HP:0011819": "Submucous cleft soft palate", "HP:0011820": "Membranous choanal atresia", "HP:0011821": "Abnormal facial skeleton morphology", "HP:0011822": "Broad chin", "HP:0011823": "Chin with horizontal crease", "HP:0011824": "Chin with H-shaped crease", "HP:0011825": "Tented philtrum", "HP:0011826": "Philtrum with midline raphe", "HP:0011827": "Malaligned philtral ridges", "HP:0011828": "Midline sinus of philtrum", "HP:0011829": "Narrow philtrum", "HP:0011830": "Abnormal oral mucosa morphology", "HP:0011831": "Deviated nasal tip", "HP:0011832": "Narrow nasal tip", "HP:0011833": "Overhanging nasal tip", "HP:0011834": "Moyamoya phenomenon", "HP:0011835": "Absent scaphoid", "HP:0011836": "Delayed talus ossification", "HP:0011837": "Partial IgA deficiency", "HP:0011838": "Sclerodactyly", "HP:0011839": "Abnormal T cell count", "HP:0011840": "Abnormality of T cell physiology", "HP:0011841": "Ventricular flutter", "HP:0011842": "Abnormal skeletal morphology", "HP:0011843": "Abnormal musculoskeletal physiology", "HP:0011844": "Abnormal appendicular skeleton morphology", "HP:0011845": "Short second metatarsal", "HP:0011846": "Osteoblastoma", "HP:0011847": "Giant cell tumor of bone", "HP:0011848": "Abdominal colic", "HP:0011849": "Abnormal bone ossification", "HP:0011850": "Parotitis", "HP:0011851": "Hemopericardium", "HP:0011852": "Chylopericardium", "HP:0011853": "Serous pericardial effusion", "HP:0011854": "Hemoperitoneum", "HP:0011855": "Pharyngeal edema", "HP:0011856": "Pica", "HP:0011857": "Plasmacytoma", "HP:0011858": "Reduced factor IX activity", "HP:0011859": "Punctate keratitis", "HP:0011860": "Metaphyseal dappling", "HP:0011861": "Bilateral trilobed lung", "HP:0011862": "Abnormal bone collagen fibril morphology", "HP:0011863": "Abnormal sternal ossification", "HP:0011864": "Elevated plasma pyrophosphate", "HP:0011867": "Abnormal iliac wing morphology", "HP:0011868": "Sciatica", "HP:0011869": "Abnormal platelet function", "HP:0011870": "Impaired arachidonic acid-induced platelet aggregation", "HP:0011871": "Impaired ristocetin-induced platelet aggregation", "HP:0011872": "Impaired thrombin-induced platelet aggregation", "HP:0011873": "Abnormal platelet count", "HP:0011874": "Heparin-induced thrombocytopenia", "HP:0011875": "Abnormal platelet morphology", "HP:0011876": "Abnormal platelet volume", "HP:0011877": "Increased mean platelet volume", "HP:0011878": "Abnormal platelet membrane protein expression", "HP:0011879": "Decreased platelet glycoprotein Ib-IX-V", "HP:0011880": "Acute disseminated intravascular coagulation", "HP:0011881": "Decreased platelet glycoprotein VI", "HP:0011882": "Decreased platelet P2Y12 receptor", "HP:0011883": "Abnormal platelet granules", "HP:0011884": "Abnormal umbilical stump bleeding", "HP:0011885": "Hemorrhage of the eye", "HP:0011886": "Hyphema", "HP:0011887": "Choroid hemorrhage", "HP:0011888": "Bleeding requiring red cell transfusion", "HP:0011889": "Bleeding with minor or no trauma", "HP:0011890": "Prolonged bleeding following procedure", "HP:0011891": "Post-partum hemorrhage", "HP:0011892": "Low levels of vitamin K", "HP:0011893": "Abnormal leukocyte count", "HP:0011894": "Impaired thromboxane A2 agonist-induced platelet aggregation", "HP:0011895": "Anemia due to reduced life span of red cells", "HP:0011896": "Subconjunctival hemorrhage", "HP:0011897": "Neutrophilia", "HP:0011898": "Abnormality of circulating fibrinogen", "HP:0011899": "Hyperfibrinogenemia", "HP:0011900": "Hypofibrinogenemia", "HP:0011901": "Dysfibrinogenemia", "HP:0011902": "Abnormal hemoglobin", "HP:0011903": "HbH hemoglobin", "HP:0011904": "Persistence of hemoglobin F", "HP:0011905": "Reduced hemoglobin A", "HP:0011906": "Reduced beta/alpha synthesis ratio", "HP:0011907": "Reduced alpha/beta synthesis ratio", "HP:0011908": "Unilateral radial aplasia", "HP:0011909": "Flattened metacarpal heads", "HP:0011910": "Shortening of all phalanges of fingers", "HP:0011911": "Abnormal metacarpophalangeal joint morphology", "HP:0011912": "Abnormality of the glenoid fossa", "HP:0011913": "Lumbar hypertrichosis", "HP:0011914": "Thoracic hypertrichosis", "HP:0011915": "Cardiovascular calcification", "HP:0011916": "Toe extensor amyotrophy", "HP:0011917": "Short 5th toe", "HP:0011918": "Clinodactyly of the 4th toe", "HP:0011919": "Pleural empyema", "HP:0011920": "Transudative pleural effusion", "HP:0011921": "Exudative pleural effusion", "HP:0011922": "Abnormal activity of mitochondrial respiratory chain", "HP:0011923": "Decreased activity of mitochondrial complex I", "HP:0011924": "Decreased activity of mitochondrial complex III", "HP:0011925": "Decreased activity of mitochondrial ATP synthase complex", "HP:0011926": "Proximal placement of hallux", "HP:0011927": "Short digit", "HP:0011928": "Short proximal phalanx of toe", "HP:0011929": "Hypersegmentation of proximal phalanx of third finger", "HP:0011930": "Hyperextensible skin of chest", "HP:0011931": "Abnormal cerebellar peduncle morphology", "HP:0011932": "Abnormal superior cerebellar peduncle morphology", "HP:0011933": "Elongated superior cerebellar peduncle", "HP:0011934": "Dilatation of mesenteric artery", "HP:0011935": "Decreased urinary urate", "HP:0011936": "Decreased plasma total carnitine", "HP:0011937": "Hypoplastic fifth toenail", "HP:0011939": "3-4 finger cutaneous syndactyly", "HP:0011940": "Anterior wedging of T12", "HP:0011941": "Anterior wedging of L2", "HP:0011942": "Increased urinary sulfite", "HP:0011943": "Increased urinary thiosulfate", "HP:0011944": "Small vessel vasculitis", "HP:0011945": "Bronchiolitis obliterans organizing pneumonia", "HP:0011946": "Bronchiolitis obliterans", "HP:0011947": "Respiratory tract infection", "HP:0011948": "Recurrent acute respiratory tract infection", "HP:0011949": "Acute infectious pneumonia", "HP:0011950": "Bronchiolitis", "HP:0011951": "Aspiration pneumonia", "HP:0011952": "Acute aspiration pneumonia", "HP:0011953": "Pulmonary lymphoma", "HP:0011954": "Nodular regenerative hyperplasia of liver", "HP:0011955": "Hepatic granulomatosis", "HP:0011956": "Intestinal lymphoid nodular hyperplasia", "HP:0011957": "Abnormal pectoral muscle morphology", "HP:0011958": "Retinal perforation", "HP:0011959": "Unilateral hypoplasia of pectoralis major muscle", "HP:0011960": "Substantia nigra gliosis", "HP:0011961": "Non-obstructive azoospermia", "HP:0011962": "Obstructive azoospermia", "HP:0011963": "Pretesticular azoospermia", "HP:0011964": "Intermittent painful muscle spasms", "HP:0011965": "Abnormal circulating citrulline concentration", "HP:0011966": "Elevated plasma citrulline", "HP:0011967": "Decreased circulating copper concentration", "HP:0011968": "Feeding difficulties", "HP:0011969": "Elevated circulating luteinizing hormone level", "HP:0011970": "Cerebral amyloid angiopathy", "HP:0011971": "Dermatographic urticaria", "HP:0011972": "Hypoglycorrhachia", "HP:0011973": "Paroxysmal lethargy", "HP:0011974": "Myelofibrosis", "HP:0011975": "Aminoglycoside-induced hearing loss", "HP:0011976": "Elevated urinary catecholamines", "HP:0011977": "Elevated urinary homovanillic acid", "HP:0011978": "Elevated urinary vanillylmandelic acid", "HP:0011979": "Elevated urinary dopamine", "HP:0011980": "Cholesterol gallstones", "HP:0011981": "Pigment gallstones", "HP:0011982": "Black pigment gallstones", "HP:0011983": "Brown pigment gallstones", "HP:0011984": "Atretic gallbladder", "HP:0011985": "Acholic stools", "HP:0011986": "Ectopic ossification", "HP:0011987": "Ectopic ossification in muscle tissue", "HP:0011988": "Ectopic ossification in tendon tissue", "HP:0011989": "Ectopic ossification in ligament tissue", "HP:0011990": "Abnormality of neutrophil physiology", "HP:0011991": "Abnormal neutrophil count", "HP:0011992": "Abnormality of neutrophil morphology", "HP:0011993": "Impaired neutrophil bactericidal activity", "HP:0011994": "Abnormal atrial septum morphology", "HP:0011995": "Atrial septal dilatation", "HP:0011996": "Elevated coagulation factor V activity", "HP:0011997": "Postprandial hyperlactemia", "HP:0011998": "Postprandial hyperglycemia", "HP:0011999": "Paranoia", "HP:0012000": "EEG with generalized spikes", "HP:0012001": "EEG with generalized polyspikes", "HP:0012002": "Experiential epileptic aura", "HP:0012003": "Affective epileptic aura", "HP:0012004": "Focal cognitive seizure with deja vu/jamais vu", "HP:0012005": "Deja vu aura", "HP:0012006": "Jamais vu aura", "HP:0012007": "Focal cognitive seizure with hallucination", "HP:0012008": "Focal cognitive seizure with illusion", "HP:0012009": "EEG with central focal spike waves", "HP:0012010": "EEG with frontal focal spike waves", "HP:0012011": "EEG with occipital focal spike waves", "HP:0012012": "EEG with parietal focal spike waves", "HP:0012013": "EEG with temporal focal spike waves", "HP:0012014": "EEG with central focal spikes", "HP:0012015": "EEG with frontal focal spikes", "HP:0012016": "EEG with occipital focal spikes", "HP:0012017": "EEG with parietal focal spikes", "HP:0012018": "EEG with temporal focal spikes", "HP:0012019": "Lens luxation", "HP:0012020": "Right aortic arch", "HP:0012021": "Persistent patent ductus venosus", "HP:0012022": "Congenital portosystemic venous shunt", "HP:0012023": "Galactosuria", "HP:0012024": "Hypergalactosemia", "HP:0012025": "Abnormal circulating ornithine concentration", "HP:0012026": "Hyperornithinemia", "HP:0012027": "Laryngeal edema", "HP:0012028": "Hepatocellular adenoma", "HP:0012029": "Abnormal urine hormone level", "HP:0012030": "Increased urinary cortisol level", "HP:0012031": "Lipomatous tumor", "HP:0012032": "Lipoma", "HP:0012033": "Sacral lipoma", "HP:0012034": "Liposarcoma", "HP:0012035": "Steatocystoma multiplex", "HP:0012036": "Sternocleidomastoid amyotrophy", "HP:0012037": "Pectoralis amyotrophy", "HP:0012038": "Corneal guttata", "HP:0012039": "Descemet Membrane Folds", "HP:0012040": "Corneal stromal edema", "HP:0012041": "Decreased fertility in males", "HP:0012042": "Aspirin-induced asthma", "HP:0012043": "Pendular nystagmus", "HP:0012044": "Seesaw nystagmus", "HP:0012045": "Retinal flecks", "HP:0012046": "Areflexia of upper limbs", "HP:0012047": "Hemeralopia", "HP:0012048": "Oromandibular dystonia", "HP:0012049": "Laryngeal dystonia", "HP:0012050": "Anasarca", "HP:0012051": "Reactive hypoglycemia", "HP:0012052": "Low serum calcitriol", "HP:0012053": "Decreased circulating calcifediol concentration", "HP:0012054": "Choroidal melanoma", "HP:0012055": "Ciliary body melanoma", "HP:0012056": "Cutaneous melanoma", "HP:0012057": "Superficial spreading melanoma", "HP:0012058": "Nodular melanoma", "HP:0012059": "Lentigo maligna melanoma", "HP:0012060": "Acral lentiginous melanoma", "HP:0012061": "Urinary excretion of sialylated oligosaccharides", "HP:0012062": "Bone cyst", "HP:0012063": "Aneurysmal bone cyst", "HP:0012064": "Unicameral bone cyst", "HP:0012065": "Multiple bony cystic lesions", "HP:0012066": "Increased urinary disaccharide excretion", "HP:0012067": "Glycopeptiduria", "HP:0012068": "Aspartylglucosaminuria", "HP:0012069": "Keratan sulfate excretion in urine", "HP:0012070": "Chondroitin sulfate excretion in urine", "HP:0012071": "Abnormal circulating acetylcarnitine concentration", "HP:0012072": "Aciduria", "HP:0012073": "Abnormal urinary acylglycine profile", "HP:0012074": "Tonic pupil", "HP:0012075": "Personality disorder", "HP:0012076": "Borderline personality disorder", "HP:0012077": "Histrionic personality disorder", "HP:0012078": "Motor conduction block", "HP:0012079": "Abnormality of central motor conduction", "HP:0012080": "Cerebellar granular layer atrophy", "HP:0012081": "Enlarged cerebellum", "HP:0012082": "Cerebellar Purkinje layer atrophy", "HP:0012083": "Ubiquitin-positive cerebral inclusion bodies", "HP:0012084": "Abnormality of skeletal muscle fiber size", "HP:0012085": "Pyuria", "HP:0012086": "Abnormal urinary color", "HP:0012087": "Abnormal mitochondrial shape", "HP:0012088": "Abnormal urinary odor", "HP:0012089": "Arteritis", "HP:0012090": "Abnormal pancreas morphology", "HP:0012091": "Abnormality of pancreas physiology", "HP:0012092": "Abnormality of exocrine pancreas physiology", "HP:0012093": "Abnormality of endocrine pancreas physiology", "HP:0012094": "Abnormal pancreas size", "HP:0012095": "Multiple joint dislocation", "HP:0012096": "Intracranial epidermoid cyst", "HP:0012097": "Intracranial dermoid cyst", "HP:0012098": "Edema of the dorsum of feet", "HP:0012099": "Abnormality of circulating catecholamine level", "HP:0012100": "Abnormal circulating creatinine concentration", "HP:0012101": "Decreased serum creatinine", "HP:0012102": "Abnormal mitochondrial number", "HP:0012103": "Abnormality of the mitochondrion", "HP:0012104": "Parietal cortical atrophy", "HP:0012105": "Occipital cortical atrophy", "HP:0012106": "Rhizomelic leg shortening", "HP:0012107": "Increased fibular diameter", "HP:0012108": "Open angle glaucoma", "HP:0012109": "Angle closure glaucoma", "HP:0012110": "Hypoplasia of the pons", "HP:0012111": "Abnormality of circulating glucocorticoid level", "HP:0012112": "Abnormal circulating corticosterone level", "HP:0012113": "Abnormal circulating creatine concentration", "HP:0012114": "Endometrial carcinoma", "HP:0012115": "Hepatitis", "HP:0012116": "Abnormal circulating albumin concentration", "HP:0012117": "Hyperalbuminemia", "HP:0012118": "Laryngeal carcinoma", "HP:0012119": "Methemoglobinemia", "HP:0012120": "Methylmalonic aciduria", "HP:0012121": "Panuveitis", "HP:0012122": "Anterior uveitis", "HP:0012123": "Posterior uveitis", "HP:0012124": "Intermediate uveitis", "HP:0012125": "Prostate cancer", "HP:0012126": "Stomach cancer", "HP:0012127": "Uraciluria", "HP:0012128": "Basal ganglia necrosis", "HP:0012129": "Abnormality of bone marrow stromal cells", "HP:0012130": "Abnormal erythroid lineage cell morphology", "HP:0012131": "Abnormal number of erythroid precursors", "HP:0012132": "Erythroid hyperplasia", "HP:0012133": "Erythroid hypoplasia", "HP:0012134": "Dysplastic erythropoesis", "HP:0012135": "Abnormal granulocytopoietic cell morphology", "HP:0012136": "Dysplastic granulopoesis", "HP:0012137": "Abnormal number of granulocyte precursors", "HP:0012138": "Granulocytic hyperplasia", "HP:0012139": "Granulocytic hypoplasia", "HP:0012142": "Pancreatic squamous cell carcinoma", "HP:0012143": "Abnormal megakaryocyte morphology", "HP:0012144": "Abnormal monocyte morphology", "HP:0012145": "Abnormality of multiple cell lineages in the bone marrow", "HP:0012146": "Abnormality of von Willebrand factor", "HP:0012147": "Reduced quantity of Von Willebrand factor", "HP:0012148": "Multiple lineage myelodysplasia", "HP:0012149": "Bilineage myelodysplasia", "HP:0012150": "Single lineage myelodysplasia", "HP:0012151": "Hemothorax", "HP:0012152": "Foveoschisis", "HP:0012153": "Hypotriglyceridemia", "HP:0012154": "Anhedonia", "HP:0012155": "Decreased corneal sensation", "HP:0012156": "Hemophagocytosis", "HP:0012157": "Subcortical cerebral atrophy", "HP:0012158": "Carotid artery dissection", "HP:0012159": "Internal carotid artery dissection", "HP:0012160": "Intracranial internal carotid artery dissection", "HP:0012161": "External carotid artery dissection", "HP:0012162": "Common carotid artery dissection", "HP:0012163": "Carotid artery dilatation", "HP:0012164": "Asterixis", "HP:0012165": "Oligodactyly", "HP:0012166": "Skin-picking", "HP:0012167": "Hair-pulling", "HP:0012168": "Head-banging", "HP:0012169": "Self-biting", "HP:0012170": "Nail-biting", "HP:0012171": "Stereotypical hand wringing", "HP:0012172": "Stereotypical body rocking", "HP:0012173": "Orthostatic tachycardia", "HP:0012174": "Glioblastoma multiforme", "HP:0012175": "Resistance to activated protein C", "HP:0012176": "Abnormal natural killer cell morphology", "HP:0012177": "Abnormal natural killer cell physiology", "HP:0012178": "Reduced natural killer cell activity", "HP:0012179": "Craniofacial dystonia", "HP:0012180": "Cystic medial necrosis", "HP:0012181": "Entrapment neuropathy", "HP:0012182": "Oropharyngeal squamous cell carcinoma", "HP:0012183": "Hyperplastic colonic polyposis", "HP:0012184": "Increased HDL cholesterol concentration", "HP:0012185": "Constrictive median neuropathy", "HP:0012186": "Entrapment neuropathy of the ulnar nerve at elbow", "HP:0012187": "Increased erythrocyte protoporphyrin concentration", "HP:0012188": "Hyperemesis gravidarum", "HP:0012189": "Hodgkin lymphoma", "HP:0012190": "T-cell lymphoma", "HP:0012191": "B-cell lymphoma", "HP:0012192": "Cutaneous T-cell lymphoma", "HP:0012193": "Anaplastic large-cell lymphoma", "HP:0012194": "Episodic hemiplegia", "HP:0012195": "Irregular respiration", "HP:0012196": "Cheyne-Stokes respiration", "HP:0012197": "Insulinoma", "HP:0012198": "Juvenile colonic polyposis", "HP:0012199": "Cluster headache", "HP:0012200": "Abnormality of prothrombin", "HP:0012202": "Increased serum bile acid concentration", "HP:0012203": "Onychomycosis", "HP:0012204": "Recurrent vulvovaginal candidiasis", "HP:0012205": "Globozoospermia", "HP:0012206": "Abnormal sperm motility", "HP:0012207": "Reduced sperm motility", "HP:0012208": "Immotile sperm", "HP:0012209": "Juvenile myelomonocytic leukemia", "HP:0012210": "Abnormal renal morphology", "HP:0012211": "Abnormal renal physiology", "HP:0012212": "Abnormal glomerular filtration rate", "HP:0012213": "Decreased glomerular filtration rate", "HP:0012214": "Increased glomerular filtration rate", "HP:0012215": "Testicular microlithiasis", "HP:0012216": "Entrapment neuropathy of suprascapular nerve", "HP:0012217": "Increased urinary porphobilinogen", "HP:0012218": "Alveolar soft part sarcoma", "HP:0012219": "Erythema nodosum", "HP:0012220": "Non-caseating epithelioid cell granulomatosis", "HP:0012221": "Pretibial blistering", "HP:0012222": "Arachnoid hemangiomatosis", "HP:0012223": "Splenic rupture", "HP:0012224": "Circulating immune complexes", "HP:0012225": "Oligodontia of primary teeth", "HP:0012226": "Ovarian teratoma", "HP:0012227": "Urethral stricture", "HP:0012228": "Tension-type headache", "HP:0012229": "CSF pleocytosis", "HP:0012230": "Rhegmatogenous retinal detachment", "HP:0012231": "Exudative retinal detachment", "HP:0012232": "Shortened QT interval", "HP:0012233": "Intramuscular hematoma", "HP:0012234": "Agranulocytosis", "HP:0012235": "Drug-induced agranulocytosis", "HP:0012236": "Elevated sweat chloride", "HP:0012237": "Urocanic aciduria", "HP:0012238": "Increased circulating chylomicron concentration", "HP:0012239": "Atransferrinemia", "HP:0012240": "Increased intramyocellular lipid droplets", "HP:0012241": "Levator palpebrae superioris atrophy", "HP:0012242": "Superior rectus atrophy", "HP:0012243": "Abnormal reproductive system morphology", "HP:0012244": "Abnormal sex determination", "HP:0012245": "Sex reversal", "HP:0012246": "Oculomotor nerve palsy", "HP:0012247": "Specific anosmia", "HP:0012248": "Prolonged PR interval", "HP:0012249": "Abnormal ST segment", "HP:0012250": "ST segment depression", "HP:0012251": "ST segment elevation", "HP:0012252": "Abnormal respiratory system morphology", "HP:0012253": "Abnormal respiratory epithelium morphology", "HP:0012254": "Ewing sarcoma", "HP:0012255": "Dynein arm defect of respiratory motile cilia", "HP:0012256": "Absent outer dynein arms", "HP:0012257": "Absent inner dynein arms", "HP:0012258": "Abnormal axonemal organization of respiratory motile cilia", "HP:0012259": "Absent inner and outer dynein arms", "HP:0012260": "Abnormal central microtubular pair morphology of respiratory motile cilia", "HP:0012261": "Abnormal respiratory motile cilium physiology", "HP:0012262": "Abnormal ciliary motility", "HP:0012263": "Immotile cilia", "HP:0012264": "Absent central microtubular pair morphology of respiratory motile cilia", "HP:0012265": "Ciliary dyskinesia", "HP:0012266": "T-wave alternans", "HP:0012267": "Absent respiratory ciliary axoneme radial spokes", "HP:0012268": "Myxoid liposarcoma", "HP:0012269": "Abnormal muscle glycogen content", "HP:0012270": "Decreased muscle glycogen content", "HP:0012271": "Episodic upper airway obstruction", "HP:0012272": "J wave", "HP:0012273": "Increased carotid artery intimal medial thickness", "HP:0012274": "Autosomal dominant inheritance with paternal imprinting", "HP:0012275": "Autosomal dominant inheritance with maternal imprinting", "HP:0012276": "Digital flexor tenosynovitis", "HP:0012277": "Hypoglycinemia", "HP:0012278": "Abnormal circulating serine concentration", "HP:0012279": "Hyposerinemia", "HP:0012280": "Hepatic amyloidosis", "HP:0012281": "Chylous ascites", "HP:0012282": "Morbilliform rash", "HP:0012283": "Small distal femoral epiphysis", "HP:0012284": "Small proximal tibial epiphyses", "HP:0012285": "Abnormal hypothalamus physiology", "HP:0012286": "Abnormal hypothalamus morphology", "HP:0012287": "Hypothalamic luteinizing hormone-releasing hormone deficiency", "HP:0012288": "Neoplasm of head and neck", "HP:0012289": "Facial neoplasm", "HP:0012292": "Fusion of gums", "HP:0012293": "Abnormal genital pigmentation", "HP:0012294": "Abnormal occipital bone morphology", "HP:0012295": "Slender middle phalanx of finger", "HP:0012296": "Slender distal phalanx of finger", "HP:0012297": "Slender proximal phalanx of finger", "HP:0012298": "Long middle phalanx of finger", "HP:0012299": "Long distal phalanx of finger", "HP:0012300": "Ureteral agenesis", "HP:0012301": "Type II transferrin isoform profile", "HP:0012302": "Herpes simplex encephalitis", "HP:0012303": "Abnormal aortic arch morphology", "HP:0012304": "Hypoplastic aortic arch", "HP:0012305": "Coarctation of the descending aortic arch", "HP:0012306": "Abnormal rib ossification", "HP:0012307": "Spatulate ribs", "HP:0012308": "Decreased circulating complement C9 concentration", "HP:0012309": "Cutaneous amyloidosis", "HP:0012310": "Abnormal monocyte count", "HP:0012311": "Monocytosis", "HP:0012312": "Monocytopenia", "HP:0012313": "Heberden's node", "HP:0012314": "Bouchard's node", "HP:0012315": "Histiocytoma", "HP:0012316": "Fibrous tissue neoplasm", "HP:0012317": "Sacroiliac arthritis", "HP:0012318": "Occipital neuralgia", "HP:0012319": "Absent pigmentation of the abdomen", "HP:0012320": "Absent pigmentation of the limbs", "HP:0012321": "D-2-hydroxyglutaric aciduria", "HP:0012322": "Perifolliculitis", "HP:0012323": "Sleep myoclonus", "HP:0012324": "Myeloid leukemia", "HP:0012325": "Chronic myelomonocytic leukemia", "HP:0012326": "Abnormal celiac artery morphology", "HP:0012327": "Celiac artery compression", "HP:0012328": "Cementoma", "HP:0012329": "Tufted angioma", "HP:0012330": "Pyelonephritis", "HP:0012331": "Abnormal autonomic nervous system morphology", "HP:0012332": "Abnormal autonomic nervous system physiology", "HP:0012333": "Abnormal sudomotor regulation", "HP:0012334": "Extrahepatic cholestasis", "HP:0012335": "Abnormality of folate metabolism", "HP:0012337": "Abnormal homeostasis", "HP:0012338": "Abnormal energy expenditure", "HP:0012339": "Increased resting energy expenditure", "HP:0012340": "Decreased resting energy expenditure", "HP:0012341": "Microprolactinoma", "HP:0012342": "Macroprolactinoma", "HP:0012343": "Decreased circulating ferritin concentration", "HP:0012344": "Morphea", "HP:0012345": "Abnormal glycosylation", "HP:0012346": "Abnormal protein glycosylation", "HP:0012347": "Abnormal protein N-linked glycosylation", "HP:0012348": "Decreased galactosylation of N-linked protein glycosylation", "HP:0012349": "Abnormal sialylation of N-linked protein glycosylation", "HP:0012350": "Decreased sialylation of N-linked protein glycosylation", "HP:0012351": "Increased sialylation of N-linked protein glycosylation", "HP:0012352": "Abnormal fucosylation of protein N-linked glycosylation", "HP:0012353": "Decreased fucosylation of N-linked protein glycosylation", "HP:0012354": "Increased fucosylation of N-linked protein glycosylation", "HP:0012355": "Abnormal mannosylation of N-linked protein glycosylation", "HP:0012356": "Decreased mannosylation of N-linked protein glycosylation", "HP:0012357": "Increased mannosylation of N-linked protein glycosylation", "HP:0012358": "Abnormal protein O-linked glycosylation", "HP:0012359": "Abnormal fucosylation of O-linked protein glycosylation", "HP:0012360": "Decreased fucosylation of O-linked protein glycosylation", "HP:0012361": "Increased fucosylation of O-linked protein glycosylation", "HP:0012362": "Abnormal sialylation of O-linked protein glycosylation", "HP:0012363": "Decreased sialylation of O-linked protein glycosylation", "HP:0012364": "Decreased urinary potassium", "HP:0012365": "Hypophosphaturia", "HP:0012366": "Basilar invagination", "HP:0012367": "Extra fontanelles", "HP:0012368": "Flat face", "HP:0012370": "Prominence of the zygomatic bone", "HP:0012371": "Hyperplasia of midface", "HP:0012372": "Abnormal eye morphology", "HP:0012373": "Abnormal eye physiology", "HP:0012375": "Chemosis", "HP:0012376": "Microphakia", "HP:0012377": "Hemianopia", "HP:0012378": "Fatigue", "HP:0012379": "Abnormal circulating enzyme concentration or activity", "HP:0012380": "Reduced carnitine O-palmitoyltransferase level", "HP:0012381": "Delayed self-feeding during toddler years", "HP:0012382": "Left-to-right shunt", "HP:0012383": "Bidirectional shunt", "HP:0012384": "Rhinitis", "HP:0012385": "Camptodactyly", "HP:0012386": "Absent hallux", "HP:0012387": "Bronchitis", "HP:0012388": "Acute bronchitis", "HP:0012389": "Appendicular hypotonia", "HP:0012390": "Anal fissure", "HP:0012391": "Hyporeflexia of upper limbs", "HP:0012392": "Jaw hyporeflexia", "HP:0012393": "Allergy", "HP:0012394": "Iodine contrast allergy", "HP:0012395": "Seasonal allergy", "HP:0012396": "Biliary dyskinesia", "HP:0012397": "Aortic atherosclerotic lesion", "HP:0012398": "Peripheral edema", "HP:0012399": "Pressure ulcer", "HP:0012400": "Abnormal circulating aldolase concentration", "HP:0012401": "Abnormal urine alpha-ketoglutarate concentration", "HP:0012402": "Increased urine alpha-ketoglutarate concentration", "HP:0012403": "Decreased urine alpha-ketoglutarate concentration", "HP:0012404": "Abnormal urine citrate concentration", "HP:0012405": "Hypocitraturia", "HP:0012406": "Hypercitraturia", "HP:0012407": "Scissor gait", "HP:0012408": "Medullary nephrocalcinosis", "HP:0012409": "Cortical nephrocalcinosis", "HP:0012410": "Pure red cell aplasia", "HP:0012411": "Premature pubarche", "HP:0012412": "Premature adrenarche", "HP:0012413": "Notched primary central incisor", "HP:0012414": "Duodenal atrophy", "HP:0012415": "Abnormal blood gas level", "HP:0012416": "Hypercapnia", "HP:0012417": "Hypocapnia", "HP:0012418": "Hypoxemia", "HP:0012419": "Hyperoxemia", "HP:0012420": "Meconium stained amniotic fluid", "HP:0012421": "Congenital absence of foreskin", "HP:0012422": "Villous hypertrophy of choroid plexus", "HP:0012423": "Colonic inertia", "HP:0012424": "Chorioretinitis", "HP:0012425": "Stercoral ulcer", "HP:0012426": "Optic disc drusen", "HP:0012427": "Increased femoral anteversion", "HP:0012428": "Prominent calcaneus", "HP:0012429": "Aplasia/Hypoplasia of the cerebral white matter", "HP:0012430": "Cerebral white matter hypoplasia", "HP:0012431": "Episodic fatigue", "HP:0012432": "Chronic fatigue", "HP:0012433": "Abnormal social behavior", "HP:0012434": "Delayed social development", "HP:0012435": "Ventral shortening of foreskin", "HP:0012436": "Nonocclusive coronary artery atherosclerosis", "HP:0012437": "Abnormal gallbladder morphology", "HP:0012438": "Abnormal gallbladder physiology", "HP:0012439": "Abnormal biliary tract physiology", "HP:0012440": "Abnormal biliary tract morphology", "HP:0012441": "Sphincter of Oddi dyskinesia", "HP:0012442": "Gallbladder dyskinesia", "HP:0012443": "Abnormality of brain morphology", "HP:0012444": "Brain atrophy", "HP:0012446": "Decreased CSF 5-methyltetrahydrofolate concentration", "HP:0012447": "Abnormal myelination", "HP:0012448": "Delayed myelination", "HP:0012449": "Sacroiliac joint synovitis", "HP:0012450": "Chronic constipation", "HP:0012451": "Acute constipation", "HP:0012452": "Restless legs", "HP:0012453": "Bilateral wrist flexion contracture", "HP:0012454": "Unilateral wrist flexion contracture", "HP:0012456": "Medial arterial calcification", "HP:0012457": "Medial calcification of medium-sized arteries", "HP:0012458": "Medial calcification of small arteries", "HP:0012459": "Hypnic headache", "HP:0012460": "Dysmorphic inferior cerebellar vermis", "HP:0012461": "Bacteriuria", "HP:0012462": "Chin myoclonus", "HP:0012463": "Elevated transferrin saturation", "HP:0012464": "Decreased transferrin saturation", "HP:0012465": "Elevated hepatic iron concentration", "HP:0012466": "Chronic respiratory acidosis", "HP:0012467": "Acute respiratory acidosis", "HP:0012468": "Chronic acidosis", "HP:0012469": "Infantile spasms", "HP:0012470": "Setting-sun eye phenomenon", "HP:0012471": "Thick vermilion border", "HP:0012472": "Eclabion", "HP:0012473": "Tongue atrophy", "HP:0012474": "Carotid artery occlusion", "HP:0012475": "Decreased circulating level of specific antibody", "HP:0012476": "Decreased specific pneumococcal antibody level", "HP:0012477": "Vocal tremor", "HP:0012478": "Temporomandibular joint ankylosis", "HP:0012479": "Temporomandibular joint crepitus", "HP:0012480": "Abnormal cerebral vein morphology", "HP:0012481": "Cerebral venous angioma", "HP:0012482": "Frontal venous angioma", "HP:0012483": "Abnormal alpha granules", "HP:0012484": "Abnormal dense granules", "HP:0012485": "Abnormal surface-connected open canalicular system", "HP:0012486": "Myelitis", "HP:0012487": "Cerebellopontine angle arachnoid cyst", "HP:0012488": "Intraventricular arachnoid cyst", "HP:0012489": "Suprasellar arachnoid cyst", "HP:0012490": "Panniculitis", "HP:0012491": "Abnormal dense tubular system", "HP:0012492": "Cerebral artery stenosis", "HP:0012493": "Middle cerebral artery stenosis", "HP:0012494": "Anterior cerebral artery stenosis", "HP:0012495": "Posterior cerebral artery stenosis", "HP:0012496": "Reduced maximal inspiratory pressure", "HP:0012497": "Reduced maximal expiratory pressure", "HP:0012498": "Nuchal cord", "HP:0012499": "Descending aortic dissection", "HP:0012500": "Verrucous papule", "HP:0012501": "Abnormal brainstem white matter morphology", "HP:0012502": "Abnormality of the internal capsule", "HP:0012503": "Abnormality of the pituitary gland", "HP:0012504": "Abnormal size of pituitary gland", "HP:0012505": "Enlarged pituitary gland", "HP:0012506": "Small pituitary gland", "HP:0012507": "Weakness of orbicularis oculi muscle", "HP:0012508": "Metamorphopsia", "HP:0012509": "Reduced thyroxin-binding globulin", "HP:0012510": "Extra-axial cerebrospinal fluid accumulation", "HP:0012511": "Temporal optic disc pallor", "HP:0012512": "Diffuse optic disc pallor", "HP:0012513": "Upper limb pain", "HP:0012514": "Lower limb pain", "HP:0012515": "Hip flexor weakness", "HP:0012516": "Tetralogy of Fallot with pulmonary atresia", "HP:0012517": "Reduced catalase level", "HP:0012518": "Abnormal circle of Willis morphology", "HP:0012519": "Hypoplastic posterior communicating artery", "HP:0012520": "Dilation of Virchow-Robin spaces", "HP:0012521": "Optic nerve aplasia", "HP:0012522": "Spider hemangioma", "HP:0012523": "Oral aversion", "HP:0012524": "Abnormal platelet shape", "HP:0012525": "Abnormal alpha granule distribution", "HP:0012526": "Absence of alpha granules", "HP:0012527": "Abnormal alpha granule content", "HP:0012528": "Abnormal number of alpha granules", "HP:0012529": "Abnormal dense granule content", "HP:0012530": "Abnormal number of dense granules", "HP:0012531": "Pain", "HP:0012532": "Chronic pain", "HP:0012533": "Allodynia", "HP:0012534": "Dysesthesia", "HP:0012535": "Abnormal synaptic transmission", "HP:0012536": "Maternal anticardiolipin antibody positive", "HP:0012537": "Food intolerance", "HP:0012538": "Gluten intolerance", "HP:0012539": "Non-Hodgkin lymphoma", "HP:0012540": "Axillary epidermoid cyst", "HP:0012541": "Cephalohematoma", "HP:0012542": "Onychauxis", "HP:0012543": "Hemosiderinuria", "HP:0012544": "Elevated circulating aldolase concentration", "HP:0012545": "Reduced circulating aldolase concentration", "HP:0012546": "Skewed maternal X inactivation", "HP:0012547": "Abnormal involuntary eye movements", "HP:0012548": "Fatty replacement of skeletal muscle", "HP:0012549": "Conjunctival lipoma", "HP:0012550": "Colonic varices", "HP:0012551": "Absent neutrophil specific granules", "HP:0012552": "Increased neutrophil nuclear projections", "HP:0012553": "Hypoplastic thumbnail", "HP:0012554": "Absent thumbnail", "HP:0012555": "Absent nail of hallux", "HP:0012556": "Hyperbeta-alaninemia", "HP:0012557": "EEG with centrotemporal focal spike waves", "HP:0012558": "Abnormal T3/T4 ratio", "HP:0012559": "Increased T3/T4 ratio", "HP:0012560": "Decreased T3/T4 ratio", "HP:0012561": "Unicuspid aortic valve", "HP:0012562": "Premature epimetaphyseal fusion in hand", "HP:0012563": "Premature epimetaphyseal fusion in foot", "HP:0012564": "Premature epimetaphyseal fusion in tibia", "HP:0012565": "Premature epimetaphyseal fusion in fibula", "HP:0012566": "Premature epimetaphyseal fusion in radius", "HP:0012567": "Premature epimetaphyseal fusion in ulna", "HP:0012568": "Lower eyelid edema", "HP:0012569": "Delayed menarche", "HP:0012570": "Synovial sarcoma", "HP:0012571": "Ureter fissus", "HP:0012572": "Ureter duplex", "HP:0012573": "Global proximal tubulopathy", "HP:0012574": "Mesangial hypercellularity", "HP:0012575": "Abnormal nephron morphology", "HP:0012576": "Glomerular C3 deposition", "HP:0012577": "Thin glomerular basement membrane", "HP:0012578": "Membranous nephropathy", "HP:0012579": "Minimal change glomerulonephritis", "HP:0012580": "Calcium phosphate nephrolithiasis", "HP:0012581": "Simple renal cyst", "HP:0012582": "Bilateral renal dysplasia", "HP:0012583": "Unilateral renal hypoplasia", "HP:0012584": "Bilateral renal hypoplasia", "HP:0012585": "Renal atrophy", "HP:0012586": "Bilateral renal atrophy", "HP:0012587": "Macroscopic hematuria", "HP:0012588": "Steroid-resistant nephrotic syndrome", "HP:0012589": "Multidrug-resistant nephrotic syndrome", "HP:0012590": "Abnormal urine output", "HP:0012591": "Abnormal urinary electrolyte concentration", "HP:0012592": "Albuminuria", "HP:0012593": "Nephrotic range proteinuria", "HP:0012594": "Moderate albuminuria", "HP:0012595": "Mild proteinuria", "HP:0012596": "Moderate proteinuria", "HP:0012597": "Heavy proteinuria", "HP:0012598": "Abnormal urine potassium concentration", "HP:0012599": "Abnormal urine phosphate concentration", "HP:0012600": "Abnormal urine chloride concentration", "HP:0012601": "Hypochloriduria", "HP:0012602": "Renal chloride wasting", "HP:0012603": "Abnormal urine sodium concentration", "HP:0012604": "Hyponatriuria", "HP:0012605": "Hypernatriuria", "HP:0012606": "Renal sodium wasting", "HP:0012607": "Abnormal urine magnesium concentration", "HP:0012608": "Hypermagnesiuria", "HP:0012609": "Hypomagnesiuria", "HP:0012610": "Abnormality of urinary uric acid level", "HP:0012612": "Abnormal urinary sulfate concentration", "HP:0012613": "Increased urinary sulfate", "HP:0012614": "Abnormal urine cytology", "HP:0012615": "Cylindruria", "HP:0012616": "Leukocyte cylindruria", "HP:0012617": "Erythrocyte cylindruria", "HP:0012618": "Urachal cyst", "HP:0012619": "Multiple bladder diverticula", "HP:0012620": "Cloacal abnormality", "HP:0012621": "Persistent cloaca", "HP:0012622": "Chronic kidney disease", "HP:0012623": "Stage 1 chronic kidney disease", "HP:0012624": "Stage 2 chronic kidney disease", "HP:0012625": "Stage 3 chronic kidney disease", "HP:0012626": "Stage 4 chronic kidney disease", "HP:0012627": "Pseudoexfoliation", "HP:0012628": "Abnormal suspensory ligament of lens morphology", "HP:0012629": "Phakodonesis", "HP:0012630": "Abnormal trabecular meshwork morphology", "HP:0012631": "Pigment deposition in the trabecular meshwork", "HP:0012632": "Abnormal intraocular pressure", "HP:0012633": "Asymmetry of intraocular pressure", "HP:0012634": "Iris pigment dispersion", "HP:0012635": "Iris hypoperfusion", "HP:0012636": "Retinal vein occlusion", "HP:0012637": "Renal calcium wasting", "HP:0012638": "Abnormal nervous system physiology", "HP:0012639": "Abnormal nervous system morphology", "HP:0012640": "Abnormality of intracranial pressure", "HP:0012641": "Decreased intracranial pressure", "HP:0012642": "Cerebellar agenesis", "HP:0012643": "Foveal hypopigmentation", "HP:0012644": "Increased caudate lactate level", "HP:0012645": "Enlarged peripheral nerve", "HP:0012646": "Retractile testis", "HP:0012647": "Abnormal inflammatory response", "HP:0012648": "Decreased inflammatory response", "HP:0012649": "Increased inflammatory response", "HP:0012650": "Perisylvian polymicrogyria", "HP:0012651": "Abasia", "HP:0012652": "Exercise-induced asthma", "HP:0012653": "Status asthmaticus", "HP:0012654": "Abnormal CSF dopamine concentration", "HP:0012655": "Elevated CSF dopamine concentration", "HP:0012656": "Reduced CSF dopamine concentration", "HP:0012657": "Abnormal brain positron emission tomography", "HP:0012658": "Abnormal brain FDG positron emission tomography", "HP:0012659": "Prefrontal hypometabolism in FDG PET", "HP:0012660": "Thalamic hypometabolism in FDG PET", "HP:0012661": "Hypothalamic hypometabolism in FDG PET", "HP:0012662": "Parietal hypometabolism in FDG PET", "HP:0012663": "Mildly reduced left ventricular ejection fraction", "HP:0012664": "Reduced left ventricular ejection fraction", "HP:0012665": "Moderately reduced left ventricular ejection fraction", "HP:0012666": "Severely reduced left ventricular ejection fraction", "HP:0012667": "Regional left ventricular wall motion abnormality", "HP:0012668": "Vasovagal syncope", "HP:0012669": "Carotid sinus syncope", "HP:0012670": "Orthostatic syncope", "HP:0012671": "Abulia", "HP:0012672": "Akinetic mutism", "HP:0012673": "Aplasia of the upper vagina", "HP:0012674": "Aplasia of the lower vagina", "HP:0012675": "Iron accumulation in brain", "HP:0012676": "Copper accumulation in brain", "HP:0012678": "Iron accumulation in substantia nigra", "HP:0012679": "Widened interpedicular distance", "HP:0012680": "Abnormality of the pineal gland", "HP:0012681": "Abnormal pineal morphology", "HP:0012682": "Pineal gland calcification", "HP:0012683": "Pineal cyst", "HP:0012684": "Abnormal pineal volume", "HP:0012685": "Decreased pineal volume", "HP:0012686": "Increased pineal volume", "HP:0012687": "Agenesis of pineal gland", "HP:0012688": "Abnormality of pineal physiology", "HP:0012689": "Abnormal pineal melatonin secretion", "HP:0012690": "T2 hypointense thalamus", "HP:0012691": "Focal T2 hypointense thalamic lesion", "HP:0012692": "Focal T2 hyperintense thalamic lesion", "HP:0012693": "Abnormal thalamic size", "HP:0012694": "Enlarged thalamic volume", "HP:0012695": "Decreased thalamic volume", "HP:0012696": "Abnormal thalamic MRI signal intensity", "HP:0012697": "Small basal ganglia", "HP:0012698": "Cerebellar gliosis", "HP:0012699": "Anomaly of lower limb diaphyses", "HP:0012700": "Abnormal large intestine physiology", "HP:0012701": "Bowel urgency", "HP:0012702": "Tenesmus", "HP:0012703": "Abnormal subarachnoid space morphology", "HP:0012704": "Widened subarachnoid space", "HP:0012705": "Abnormal metabolic brain imaging by MRS", "HP:0012706": "Elevated brain choline level by MRS", "HP:0012707": "Elevated brain lactate level by MRS", "HP:0012708": "Reduced brain N-acetyl aspartate level by MRS", "HP:0012709": "Abnormal brain choline/creatine ratio by MRS", "HP:0012710": "Ingrown nail", "HP:0012711": "Delayed ossification of vertebral epiphysis", "HP:0012712": "Mild hearing impairment", "HP:0012713": "Moderate hearing impairment", "HP:0012714": "Severe hearing impairment", "HP:0012715": "Profound hearing impairment", "HP:0012716": "Moderate conductive hearing impairment", "HP:0012717": "Severe conductive hearing impairment", "HP:0012718": "Morphological abnormality of the gastrointestinal tract", "HP:0012719": "Functional abnormality of the gastrointestinal tract", "HP:0012720": "Neoplasm of the nose", "HP:0012721": "Venous malformation", "HP:0012722": "Heart block", "HP:0012723": "Sinoatrial block", "HP:0012724": "Upper eyelid edema", "HP:0012725": "Cutaneous syndactyly", "HP:0012726": "Episodic hypokalemia", "HP:0012727": "Thoracic aortic aneurysm", "HP:0012728": "Fusiform descending thoracic aortic aneurysm", "HP:0012729": "Saccular descending thoracic aortic aneurysm", "HP:0012730": "Aglossia", "HP:0012731": "Ectopic anterior pituitary gland", "HP:0012732": "Anorectal anomaly", "HP:0012733": "Macule", "HP:0012734": "Ketotic hypoglycemia", "HP:0012735": "Cough", "HP:0012736": "Profound global developmental delay", "HP:0012737": "Small intestinal polyp", "HP:0012738": "Agenesis of canine", "HP:0012739": "Agenesis of the small intestine", "HP:0012740": "Papilloma", "HP:0012741": "Unilateral cryptorchidism", "HP:0012742": "Thin fingernail", "HP:0012743": "Abdominal obesity", "HP:0012744": "Femoral aplasia", "HP:0012745": "Short palpebral fissure", "HP:0012746": "Thin toenail", "HP:0012747": "Abnormal brainstem MRI signal intensity", "HP:0012748": "Focal T2 hyperintense brainstem lesion", "HP:0012749": "Focal T2 hypointense brainstem lesion", "HP:0012750": "T2 hypointense brainstem", "HP:0012751": "Abnormal basal ganglia MRI signal intensity", "HP:0012752": "Focal T2 hypointense basal ganglia lesion", "HP:0012753": "T2 hypointense basal ganglia", "HP:0012754": "CNS hypermyelination", "HP:0012755": "Enlarged brainstem", "HP:0012756": "CSF polymorphonuclear pleocytosis", "HP:0012757": "Abnormal neuron morphology", "HP:0012758": "Neurodevelopmental delay", "HP:0012759": "Neurodevelopmental abnormality", "HP:0012760": "Reduced social reciprocity", "HP:0012761": "Absent mastoid", "HP:0012762": "Cerebral white matter atrophy", "HP:0012763": "Paroxysmal dyspnea", "HP:0012764": "Orthopnea", "HP:0012765": "Widened cerebellar subarachnoid space", "HP:0012766": "Widened cerebral subarachnoid space", "HP:0012767": "Abnormal placental size", "HP:0012768": "Neonatal asphyxia", "HP:0012769": "Abnormal arm span", "HP:0012770": "Reduced arm span", "HP:0012771": "Increased arm span", "HP:0012772": "Abnormal upper to lower segment ratio", "HP:0012773": "Reduced upper to lower segment ratio", "HP:0012774": "Increased upper to lower segment ratio", "HP:0012775": "Stellate iris", "HP:0012776": "Abnormal ciliary body morphology", "HP:0012777": "Retinal neoplasm", "HP:0012778": "Retinal astrocytic hamartoma", "HP:0012779": "Transient hearing impairment", "HP:0012780": "Neoplasm of the ear", "HP:0012781": "Mid-frequency hearing loss", "HP:0012782": "Perilobar nephrogenic rest", "HP:0012783": "Intralobar nephrogenic rest", "HP:0012784": "Perinephritis", "HP:0012785": "Flexion contracture of finger", "HP:0012786": "Recurrent cystitis", "HP:0012787": "Recurrent pyelonephritis", "HP:0012788": "Reticulate pigmentation of oral mucosa", "HP:0012789": "Hypoplasia of the calcaneus", "HP:0012790": "Abnormal intramembranous ossification", "HP:0012791": "Abnormal humeral ossification", "HP:0012792": "Absent ossification of thoracic vertebral bodies", "HP:0012793": "Kinked brainstem", "HP:0012794": "Periventricular white matter hypodensities", "HP:0012795": "Abnormal optic disc morphology", "HP:0012796": "Increased cup-to-disc ratio", "HP:0012797": "Lymphatic vessel neoplasm", "HP:0012798": "Pulmonary lymphangiomyomatosis", "HP:0012799": "Unilateral facial palsy", "HP:0012800": "Accessory cranial suture", "HP:0012801": "Narrow jaw", "HP:0012802": "Broad jaw", "HP:0012803": "Anisometropia", "HP:0012804": "Corneal ulceration", "HP:0012805": "Iris transillumination defect", "HP:0012806": "Proboscis", "HP:0012807": "High insertion of columella", "HP:0012808": "Abnormal nasal base norphology", "HP:0012809": "Narrow nasal base", "HP:0012810": "Wide nasal base", "HP:0012811": "Wide nasal ridge", "HP:0012812": "Fullness of paranasal tissue", "HP:0012813": "Unilateral breast hypoplasia", "HP:0012814": "Bilateral breast hypoplasia", "HP:0012815": "Hypoplastic female external genitalia", "HP:0012816": "Right ventricular noncompaction cardiomyopathy", "HP:0012817": "Noncompaction cardiomyopathy", "HP:0012818": "Biventricular noncompaction cardiomyopathy", "HP:0012819": "Myocarditis", "HP:0012820": "Bilateral vocal cord paralysis", "HP:0012821": "Unilateral vocal cord paresis", "HP:0012822": "Bilateral vocal cord paresis", "HP:0012823": "Clinical modifier", "HP:0012824": "Severity", "HP:0012825": "Mild", "HP:0012826": "Moderate", "HP:0012827": "Borderline", "HP:0012828": "Severe", "HP:0012829": "Profound", "HP:0012830": "Position", "HP:0012831": "Laterality", "HP:0012832": "Bilateral", "HP:0012833": "Unilateral", "HP:0012834": "Right", "HP:0012835": "Left", "HP:0012836": "Spatial pattern", "HP:0012837": "Generalized", "HP:0012838": "Localized", "HP:0012839": "Distal", "HP:0012840": "Proximal", "HP:0012841": "Retinal vascular tortuosity", "HP:0012842": "Skin appendage neoplasm", "HP:0012843": "Hair follicle neoplasm", "HP:0012844": "Trichilemmoma", "HP:0012845": "Single trichilemmoma", "HP:0012846": "Multiple trichilemmomata", "HP:0012847": "Epilepsia partialis continua", "HP:0012848": "Small intestinal stenosis", "HP:0012849": "Small intestinal bleeding", "HP:0012850": "Small intestinal dysmotility", "HP:0012851": "Colonic stenosis", "HP:0012852": "Hepatic bridging fibrosis", "HP:0012853": "Scrotal hypospadias", "HP:0012854": "Midshaft hypospadias", "HP:0012855": "Scrotal hyperpigmentation", "HP:0012856": "Abnormal scrotal rugation", "HP:0012857": "Increased scrotal rugation", "HP:0012858": "Decreased scrotal rugation", "HP:0012859": "Esophageal leukoplakia", "HP:0012860": "Testicular fibrosis", "HP:0012861": "Ovotestis", "HP:0012862": "Abnormal germ cell morphology", "HP:0012863": "Abnormal male germ cell morphology", "HP:0012864": "Abnormal sperm morphology", "HP:0012865": "Abnormal sperm head morphology", "HP:0012866": "Abnormal sperm neck morphology", "HP:0012867": "Abnormal sperm mid-piece morphology", "HP:0012868": "Abnormal sperm tail morphology", "HP:0012869": "Acephalic spermatozoa", "HP:0012870": "Vanishing testis", "HP:0012871": "Varicocele", "HP:0012872": "Abnormal vas deferens morphology", "HP:0012873": "Absent vas deferens", "HP:0012874": "Abnormal male reproductive system physiology", "HP:0012875": "Abnormal ejaculation", "HP:0012876": "Premature ejaculation", "HP:0012877": "Retrograde ejaculation", "HP:0012878": "Retarded ejaculation", "HP:0012879": "Anejaculation", "HP:0012880": "Abnormal labia minora morphology", "HP:0012881": "Abnormal labia majora morphology", "HP:0012882": "Hyperplastic labia majora", "HP:0012883": "Fallopian tube cyst", "HP:0012884": "Fallopian tube torsion", "HP:0012885": "Fallopian tube duplication", "HP:0012886": "Hemorrhagic ovarian cyst", "HP:0012887": "Ovarian serous cystadenoma", "HP:0012888": "Abnormal uterine cervix morphology", "HP:0012889": "Cervical endometriosis", "HP:0012890": "Posteriorly placed anus", "HP:0012891": "High posterior hairline", "HP:0012892": "Facial muscle hypertrophy", "HP:0012893": "Neck muscle hypertrophy", "HP:0012894": "Paraspinal muscle hypertrophy", "HP:0012895": "Scapular muscle hypertrophy", "HP:0012896": "Abnormal motor evoked potentials", "HP:0012897": "Abnormal upper-limb motor evoked potentials", "HP:0012898": "Abnormal lower-limb motor evoked potentials", "HP:0012899": "Handgrip myotonia", "HP:0012900": "Myotonia of the face", "HP:0012901": "Myotonia of the jaw", "HP:0012902": "Myotonia of the lower limb", "HP:0012903": "Myotonia of the upper limb", "HP:0012904": "Cold-sensitive myotonia", "HP:0012905": "Euryblepharon", "HP:0020006": "Ciliary body coloboma", "HP:0020034": "Diffuse", "HP:0020035": "Lower limb dysmetria", "HP:0020036": "Upper limb dysmetria", "HP:0020037": "Astasia", "HP:0020038": "Vertebrobasilar dolichoectasia", "HP:0020041": "Double elevator palsy", "HP:0020042": "Double depressor palsy", "HP:0020043": "Vertical incomitant strabismus", "HP:0020044": "Horizontal incomitant strabismus", "HP:0020045": "Esodeviation", "HP:0020046": "Accommodative esotropia", "HP:0020047": "Abnormal myeloid cell morphology", "HP:0020048": "Reduced bone-marrow pro-B cell count", "HP:0020049": "Exodeviation", "HP:0020050": "Anti-granulocyte-macrophage colony stimulating factor antibody positivity", "HP:0020054": "Abnormal erythrocyte physiology", "HP:0020058": "Abnormal red blood cell count", "HP:0020059": "Increased red blood cell count", "HP:0020060": "Decreased red blood cell count", "HP:0020061": "Abnormal hemoglobin concentration", "HP:0020062": "Decreased hemoglobin concentration", "HP:0020063": "Increased hemoglobin concentration", "HP:0020064": "Abnormal eosinophil count", "HP:0020071": "Viremia", "HP:0020072": "Persistent EBV viremia", "HP:0020073": "Hypopigmented macule", "HP:0020074": "Crystalluria", "HP:0020075": "Leucine crystalluria", "HP:0020076": "Wrist ganglion", "HP:0020077": "Carnitinuria", "HP:0020078": "Alaninuria", "HP:0020079": "Beta-alaninuria", "HP:0020080": "Erythrocyte inclusion bodies", "HP:0020081": "Pappenheimer bodies", "HP:0020082": "Heinz bodies", "HP:0020083": "Furuncle", "HP:0020084": "Carbuncle", "HP:0020085": "Infection following live vaccination", "HP:0020086": "BCGitis", "HP:0020087": "BCGosis", "HP:0020088": "Post-vaccination measles", "HP:0020089": "Post-vaccination rubella", "HP:0020090": "Post-vaccination polio", "HP:0020091": "Post-vaccination rotavirus infection", "HP:0020093": "Recurrent deep organ abscess formation", "HP:0020095": "Prolonged need of intravenous antibiotic therapy", "HP:0020096": "Recurrent streptococcal infections", "HP:0020097": "Infection due to encapsulated bacteria", "HP:0020099": "Severe norovirus infection", "HP:0020100": "Unusual fungal infection", "HP:0020101": "Invasive fungal infection", "HP:0020102": "Pneumocystis jirovecii pneumonia", "HP:0020103": "Invasive pulmonary aspergillosis", "HP:0020104": "Unusual protozoan infection", "HP:0020105": "Severe toxoplasmosis", "HP:0020106": "Severe giardiasis", "HP:0020107": "Unusual helminthic infection", "HP:0020108": "Unusual parasitic infection", "HP:0020110": "Bone fracture", "HP:0020111": "Abnormal CD4+CD25+ regulatory T cell proportion", "HP:0020112": "Increased proportion of CD4+CD25+ regulatory T cells", "HP:0020113": "Decreased proportion of CD4+CD25+ regulatory T cells", "HP:0020114": "Persistent human papillomavirus infection", "HP:0020117": "Hypoplastic dermoepidermal hemidesmosomes", "HP:0020118": "Radial artery aplasia", "HP:0020119": "Abnormal retinal nerve fiber layer morphology", "HP:0020120": "Retinal nerve fiber edema", "HP:0020121": "Conception by assisted reproductive technology", "HP:0020122": "Bite cells", "HP:0020123": "Tympanosclerosis", "HP:0020125": "Spontaneous conjunctival filtering bleb", "HP:0020126": "Prostate mass", "HP:0020127": "Periarticular soft-tissue mass", "HP:0020128": "Aplasia of the olfactory tract", "HP:0020129": "Abnormal urine protein level", "HP:0020130": "Increased urinary neutrophil gelatinase-associated lipocalin", "HP:0020131": "Abnormal tubular basement membrane morphology", "HP:0020132": "Thickening of the tubular basement membrane", "HP:0020133": "Podocyte hypertrophy", "HP:0020134": "Increased urine neutrophil count", "HP:0020135": "Myofibromatosis", "HP:0020136": "Anticardiolipin IgG antibody positivity", "HP:0020137": "Anticardiolipin IgM antibody positivity", "HP:0020138": "History of recent animal bite", "HP:0020139": "History of recent insect bite", "HP:0020140": "History of recent tick bite", "HP:0020141": "Blood pressure substantially higher in legs than arms", "HP:0020142": "Blood pressure substantially higher in arms than legs", "HP:0020143": "Tracheal duplication cyst", "HP:0020144": "Calcium phosphate crystalluria", "HP:0020145": "Calcium oxalate crystalluria", "HP:0020146": "Calcium carbonate crystalluria", "HP:0020147": "2-Methylbutyryl glycinuria", "HP:0020148": "Increased circulating mead acid level", "HP:0020149": "Elevated circulating succinate", "HP:0020150": "Elevated urinary uromodulin", "HP:0020151": "Anti-dsDNA antibody positivity", "HP:0020152": "Distal joint laxity", "HP:0020153": "Positive blood 1,3 beta glucan test", "HP:0020154": "Nevus comedonicus", "HP:0020155": "Abnormal oocyte morphology", "HP:0020156": "Abnormal zona pellucida morphology", "HP:0020157": "Thin zona pellucida", "HP:0020158": "Increased circulating adrenic acid concentration", "HP:0020159": "Reduced response to gonadotropin-releasing hormone stimulation test", "HP:0020160": "GM1-ganglioside accumulation", "HP:0020161": "Branch retinal artery occlusion", "HP:0020163": "Cilioretinal artery occlusion", "HP:0020164": "Ophthalmic artery occlusion", "HP:0020165": "Branch retinal vein occlusion", "HP:0020166": "Central retinal vein occlusion", "HP:0020167": "Hemiretinal vein occlusion", "HP:0020169": "Abnormal drug response", "HP:0020170": "Increased blood drug concentration", "HP:0020171": "Decreased blood drug concentration", "HP:0020172": "Adverse drug response", "HP:0020173": "Reduced drug efficacy", "HP:0020174": "Refractory drug response", "HP:0020175": "Reduced cholinesterase level", "HP:0020176": "Cholesterol crystalluria", "HP:0020177": "Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells", "HP:0020178": "Abnormal dendritic cell count", "HP:0020179": "Abnormal circulating haptoglobin concentration", "HP:0020180": "Elevated haptoglobin level", "HP:0020181": "Reduced haptoglobin level", "HP:0020182": "Abnormal circulating A-type atrial natriuretic peptide concentration", "HP:0020183": "Increased circulating A-type natriuretic peptide concentration", "HP:0020184": "Decreased circulating A-type natriuretic peptide concentration", "HP:0020185": "Superior cerebellar dysplasia", "HP:0020186": "Multilobulated spleen", "HP:0020187": "Thick pachygyria", "HP:0020188": "Anterior predominant pachygyria with 5-10 mm cortical thickness", "HP:0020189": "Posterior predominant thick cortex pachygyria", "HP:0020190": "Perisylvian predominant thick cortex pachygyria", "HP:0020191": "Anterior predominant thick cortex pachygyria", "HP:0020192": "Pachygyria with 5-10 mm cortical thickness", "HP:0020193": "Prolonged reptilase time", "HP:0020194": "IgA heavy chain paraproteinemia", "HP:0020195": "IgG heavy chain paraproteinemia", "HP:0020196": "IgM heavy chain paraproteinemia", "HP:0020197": "Increased circulating arachidonic acid concentration", "HP:0020198": "Abnormal circulating 18-hydroxycorticosterone level", "HP:0020199": "Decreased circulating 18-hydroxycortisone level", "HP:0020200": "Increased circulating 18-hydroxycortisone level", "HP:0020201": "Abnormal sarcomere morphology", "HP:0020202": "Abnormal Z disc morphology", "HP:0020203": "Z-band streaming", "HP:0020204": "Tubulointerstitial bacterial infiltration", "HP:0020205": "Tubulointerstitial fungal infiltration", "HP:0020206": "Simple ear", "HP:0020207": "Reflex seizure", "HP:0020208": "Eating-induced seizure", "HP:0020209": "Hot water-induced seizure", "HP:0020210": "Praxis-induced seizure", "HP:0020211": "Proprioceptive-induced seizure", "HP:0020212": "Reading-induced seizure", "HP:0020213": "Somatosensory-induced seizure", "HP:0020214": "Startle-induced seizure", "HP:0020215": "Thinking-induced seizure", "HP:0020216": "Visually-induced seizure", "HP:0020217": "Focal aware motor seizure", "HP:0020218": "Focal aware atonic seizure", "HP:0020219": "Motor seizure", "HP:0020220": "Focal atonic seizure", "HP:0020221": "Clonic seizure", "HP:0020222": "Hypohomocysteinemia", "HP:0020223": "Dermal sinus tract", "HP:0025004": "Hallux rigidus", "HP:0025005": "Thickening of glomerular capillary wall", "HP:0025006": "Abnormal glomerular capillary morphology", "HP:0025007": "Ectopic fovea", "HP:0025008": "Tracheal tug on inspiration", "HP:0025009": "Forward slanting upper incisors", "HP:0025010": "Foveal atrophy", "HP:0025011": "Pyriform aperture stenosis", "HP:0025012": "Status cribrosum", "HP:0025013": "Decerebrate rigidity", "HP:0025014": "Subcutaneous spheroids", "HP:0025015": "Abnormal vascular morphology", "HP:0025016": "Abnormal capillary morphology", "HP:0025017": "Capillary fragility", "HP:0025018": "Abnormal capillary physiology", "HP:0025019": "Arterial rupture", "HP:0025020": "Elevated prostate-specific antigen level", "HP:0025021": "Abnormal erythrocyte sedimentation rate", "HP:0025022": "Decreased erythrocyte sedimentation rate", "HP:0025023": "Rectal atresia", "HP:0025024": "Megarectum", "HP:0025025": "Rectovestibular fistula", "HP:0025026": "H-type rectovestibular fistula", "HP:0025027": "Osteoma cutis", "HP:0025028": "Abnormality of enteric nervous system morphology", "HP:0025029": "Abnormality of enteric neuron morphology", "HP:0025030": "Enteric neuronal degeneration", "HP:0025031": "Abnormality of the digestive system", "HP:0025032": "Abnormality of digestive system physiology", "HP:0025033": "Abnormality of digestive system morphology", "HP:0025034": "Abnormal morphology of erythroid progenitor cell", "HP:0025035": "Abnormal proerythroblast morphology", "HP:0025037": "Hypothalamic gliosis", "HP:0025038": "Intratesticular abscess", "HP:0025039": "Basal ganglia edema", "HP:0025040": "Thalamic edema", "HP:0025041": "Thalamic calcification", "HP:0025042": "Abnormality of mesenteric lymph nodes", "HP:0025043": "Enlarged mesenteric lymph node", "HP:0025044": "Lung abscess", "HP:0025045": "Abnormal brain lactate level by MRS", "HP:0025046": "Reduced brain lactate level by MRS", "HP:0025047": "Abnormal brain choline level by MRS", "HP:0025048": "Reduced brain choline level by MRS", "HP:0025049": "Abnormal brain creatine level by MRS", "HP:0025050": "Elevated brain creatine level by MRS", "HP:0025051": "Reduced brain creatine level by MRS", "HP:0025052": "Abnormal brain N-acetyl aspartate level by MRS", "HP:0025053": "Elevated brain N-acetyl aspartate level by MRS", "HP:0025057": "Abnormality of olfactory lobe morphology", "HP:0025058": "Hypothalamic atrophy", "HP:0025059": "Splenic abscess", "HP:0025060": "Multifocal splenic abscess", "HP:0025061": "Unifocal splenic abscess", "HP:0025062": "Geophagia", "HP:0025063": "Scaphoid abdomen", "HP:0025064": "Thalamic hemorrhage", "HP:0025065": "Abnormal mean corpuscular volume", "HP:0025066": "Decreased mean corpuscular volume", "HP:0025068": "Incomitant strabismus", "HP:0025069": "Concomitant strabismus", "HP:0025070": "Abnormal U wave", "HP:0025071": "U wave inversion", "HP:0025072": "Prominent U wave", "HP:0025073": "Exercise-induced U wave inversion", "HP:0025074": "Abnormal QRS complex", "HP:0025075": "Increased QRS voltage", "HP:0025076": "Abnormal QRS voltage", "HP:0025077": "Decreased QRS voltage", "HP:0025078": "Electrical alternans", "HP:0025079": "Pancreatic abscess", "HP:0025080": "Orthokeratotic hyperkeratosis", "HP:0025081": "Darier's sign", "HP:0025082": "Abnormal cutaneous elastic fiber morphology", "HP:0025083": "Elevated dermal desmosine content", "HP:0025084": "Folliculitis", "HP:0025085": "Bloody diarrhea", "HP:0025086": "Bloody mucoid diarrhea", "HP:0025087": "Delayed recoil upon stretching of skin", "HP:0025088": "Onychomadesis", "HP:0025089": "Feculent vomiting", "HP:0025090": "Abnormal large intestinal mucosa morphology", "HP:0025092": "Epidermal acanthosis", "HP:0025093": "Peripapillary exudate", "HP:0025094": "Disciform macular scar", "HP:0025095": "Sneeze", "HP:0025096": "Paroxysmal sneezing", "HP:0025097": "Eyelid myoclonus", "HP:0025098": "Dysgenesis of the hypothalamus", "HP:0025099": "Dysgenesis of the thalamus", "HP:0025100": "Abnormal hippocampus morphology", "HP:0025101": "Dysgenesis of the hippocampus", "HP:0025102": "Dysgenesis of the basal ganglia", "HP:0025103": "Umbilicated nodule", "HP:0025104": "Capillary malformation", "HP:0025105": "Nevus anemicus", "HP:0025106": "Nevus roseus", "HP:0025107": "Cutis marmorata telangiectatica congenita", "HP:0025108": "Angioma serpentinum", "HP:0025109": "Reduced red cell pyruvate kinase level", "HP:0025110": "Placoid macular lesion", "HP:0025112": "Auditory sensitivity", "HP:0025113": "Misophonia", "HP:0025114": "Hypergranulosis", "HP:0025115": "Civatte bodies", "HP:0025116": "Fetal distress", "HP:0025117": "Rete ridge flattening", "HP:0025118": "Lip discoloration", "HP:0025119": "Violet lip discoloration", "HP:0025122": "Sawtooth acanthosis", "HP:0025123": "White streaks/specks on enamel.", "HP:0025124": "Fragile teeth", "HP:0025125": "White lesion of the oral mucosa", "HP:0025126": "Oral hairy leukoplakia", "HP:0025127": "Actinic keratosis", "HP:0025128": "Reduced intraabdominal adipose tissue", "HP:0025129": "Abnormal small intestinal mucosa morphology", "HP:0025130": "Decreased small intestinal mucosa lactase level", "HP:0025131": "Finger swelling", "HP:0025132": "Abnormal circulating estrogen level", "HP:0025133": "Abnormal serum estradiol", "HP:0025134": "Increased serum estradiol", "HP:0025135": "Abnormal serum estriol", "HP:0025136": "Increased serum estriol", "HP:0025137": "Decreased serum estriol", "HP:0025138": "Abnormal serum estrone", "HP:0025139": "Increased serum estrone", "HP:0025140": "Decreased serum estrone", "HP:0025141": "Gingival calcification", "HP:0025142": "Constitutional symptom", "HP:0025143": "Chills", "HP:0025144": "Shivering", "HP:0025145": "Rigors", "HP:0025146": "Foveal degeneration", "HP:0025147": "Beaten bronze macular sheen", "HP:0025148": "Dark choroid", "HP:0025149": "Atrophic muscularis propria", "HP:0025150": "Hypoganglionosis", "HP:0025151": "Ganglioneuromatosis", "HP:0025152": "Poor visual behavior for age", "HP:0025153": "Transient", "HP:0025154": "Portosystemic collateral veins", "HP:0025155": "Abnormality of hepatobiliary system physiology", "HP:0025156": "Dependency on intravenous nutrition", "HP:0025157": "Increased urinary sedoheptulose", "HP:0025158": "Hyperautofluorescent retinal lesion", "HP:0025159": "Hypoautofluorescent retinal lesion", "HP:0025160": "Abnormal temper tantrums", "HP:0025161": "Frequent temper tantrums", "HP:0025162": "Severe temper tantrums", "HP:0025163": "Abnormality of optic chiasm morphology", "HP:0025164": "Increased number of elastic fibers in the dermis", "HP:0025165": "Clumping of elastic fibers in the dermis", "HP:0025166": "Thickened elastic fibers in the dermis", "HP:0025167": "Fragmented elastic fibers in the dermis", "HP:0025168": "Left ventricular diastolic dysfunction", "HP:0025169": "Left ventricular systolic dysfunction", "HP:0025170": "Neuronal/glioneuronal neoplasm of the central nervous system", "HP:0025171": "Rosette-forming glioneuronal tumor", "HP:0025172": "Smooth septal thickening on pulmonary HRCT", "HP:0025173": "Nodular septal thickening on pulmonary HRCT", "HP:0025174": "Irregular septal thickening on pulmonary HRCT", "HP:0025175": "Honeycomb lung", "HP:0025176": "Intralobular interstitial thickening", "HP:0025177": "Peribronchovascular interstitial thickening", "HP:0025178": "Subpleural interstitial thickening", "HP:0025179": "Ground-glass opacification", "HP:0025180": "Centrilobular ground-glass opacification on pulmonary HRCT", "HP:0025181": "Abdominal aseptic abscess", "HP:0025182": "Localized area of pendulous skin", "HP:0025186": "Marcus Gunn jaw winking synkinesis", "HP:0025188": "Retinal vasculitis", "HP:0025190": "Bilateral tonic-clonic seizure with generalized onset", "HP:0025192": "Subtentorial periventricular white matter hyperdensity", "HP:0025193": "Posterolateral diaphragmatic hernia", "HP:0025194": "Morgagni diaphragmatic hernia", "HP:0025195": "Central diaphragmatic hernia", "HP:0025196": "Increased total iron binding capacity", "HP:0025197": "Inclusion body fibromatosis", "HP:0025198": "Inflammatory cap polyp", "HP:0025200": "Muscle fiber actin filament accumulation", "HP:0025201": "Abnormal circulating apolipoprotein concentration", "HP:0025202": "Elevated circulating apolipoprotein A-IV concentration", "HP:0025203": "Caput medusae", "HP:0025204": "Triggered by", "HP:0025205": "Triggered by breast feeding", "HP:0025206": "Triggered by cold", "HP:0025207": "Triggered by dehydration", "HP:0025208": "Triggered by carbohydrate ingestion", "HP:0025209": "Triggered by fructose ingestion", "HP:0025210": "Triggered by glucose ingestion", "HP:0025211": "Triggered by ethanol ingestion", "HP:0025212": "Triggered by fasting", "HP:0025213": "Triggered by galactose ingestion", "HP:0025214": "Triggered by heat", "HP:0025215": "Triggered by febrile illness", "HP:0025216": "Triggered by heavy meal", "HP:0025217": "Triggered by high-fat diet", "HP:0025218": "Triggered by hyperventilation", "HP:0025219": "Triggered by vaccination", "HP:0025220": "Triggered by menstruation", "HP:0025221": "Triggered by pregnancy", "HP:0025222": "Triggered by sleep deprivation", "HP:0025223": "Triggered by smoking", "HP:0025224": "Triggered by sodium ingestion", "HP:0025225": "Triggered by sound", "HP:0025226": "Triggered by stress", "HP:0025227": "Triggered by excitement", "HP:0025228": "Triggered by sudden movement", "HP:0025229": "Triggered by vestibular stimulation", "HP:0025230": "Tendonitis", "HP:0025231": "Abnormal synovial bursa morphology", "HP:0025232": "Bursitis", "HP:0025233": "Sleep paralysis", "HP:0025234": "Parasomnia", "HP:0025235": "Non-rapid eye movement parasomnia", "HP:0025236": "Somnambulism", "HP:0025237": "Confusional arousal", "HP:0025238": "Foot pain", "HP:0025239": "Subhyaloid hemorrhage", "HP:0025240": "Preretinal hemorrhage", "HP:0025241": "Flame-shaped retinal hemorrhage", "HP:0025242": "Dot-and-blot retinal hemorrhage", "HP:0025243": "Subretinal hemorrhage", "HP:0025244": "Subretinal pigment epithelium hemorrhage", "HP:0025245": "Cutaneous cyst", "HP:0025246": "Trichilemmal cyst", "HP:0025247": "Dermoid cyst", "HP:0025248": "Eruptive vellus hair cyst", "HP:0025249": "Comedo", "HP:0025250": "Closed comedo", "HP:0025251": "Open comedo", "HP:0025252": "Geographic tongue", "HP:0025253": "Claustrophobia", "HP:0025254": "Ameliorated by", "HP:0025255": "Ameliorated by pregnancy", "HP:0025256": "Ameliorated by heat", "HP:0025257": "Ameliorated by carbohydrate ingestion", "HP:0025258": "Stiff neck", "HP:0025259": "Stiff elbow", "HP:0025260": "Stiff wrist", "HP:0025261": "Stiff finger", "HP:0025262": "Stiff hip", "HP:0025263": "Stiff knee", "HP:0025264": "Stiff ankle", "HP:0025265": "Stiff toe", "HP:0025267": "Snoring", "HP:0025268": "Stuttering", "HP:0025269": "Panic attack", "HP:0025270": "Abnormal esophagus physiology", "HP:0025271": "Esophageal spasms", "HP:0025272": "Melasma", "HP:0025273": "Achilles tendonitis", "HP:0025274": "Ovarian dermoid cyst", "HP:0025275": "Lateral", "HP:0025276": "Abnormality of skin adnexa physiology", "HP:0025277": "Gustatory sweating", "HP:0025278": "Cold-induced sweating", "HP:0025279": "Migratory", "HP:0025280": "Pain characteristic", "HP:0025281": "Sharp", "HP:0025282": "Dull", "HP:0025283": "Tender", "HP:0025284": "Sleep-interrupting", "HP:0025285": "Aggravated by", "HP:0025286": "Aggravated by activity", "HP:0025287": "Axial", "HP:0025289": "Cervical lymphadenopathy", "HP:0025290": "Upper-body predominance", "HP:0025291": "Lower-body predominance", "HP:0025292": "Acral", "HP:0025293": "Distributed along Blaschko lines", "HP:0025294": "Dermatomal", "HP:0025295": "Herpetiform", "HP:0025296": "Morbilliform", "HP:0025297": "Prolonged", "HP:0025300": "Malar rash", "HP:0025301": "Nocturnal", "HP:0025302": "Diurnal", "HP:0025303": "Episodic", "HP:0025304": "Periodic", "HP:0025305": "Quotidian", "HP:0025306": "Acute emergence over minutes", "HP:0025307": "Acute emergence over hours", "HP:0025308": "Acute emergence over days", "HP:0025309": "Abnormal pupil shape", "HP:0025310": "Oval pupil", "HP:0025311": "Anterior chamber cyst", "HP:0025312": "Esophoria", "HP:0025313": "Exophoria", "HP:0025314": "Choroidal nevus", "HP:0025315": "Exacerbated by head trauma", "HP:0025317": "Cubitus varus", "HP:0025318": "Ovarian carcinoma", "HP:0025319": "Rubeosis iridis", "HP:0025320": "Leakage of dye on fundus fluorescein angiography", "HP:0025321": "Copper accumulation in liver", "HP:0025322": "Venous occlusion", "HP:0025323": "Abnormal arterial physiology", "HP:0025324": "Arterial occlusion", "HP:0025325": "Sparse medial eyebrow", "HP:0025326": "Retinal arterial occlusion", "HP:0025327": "Decreased renal parenchymal thickness", "HP:0025328": "Antepartum hemorrhage", "HP:0025329": "Anti-glutamic acid decarboxylase antibody positivity", "HP:0025330": "Downgaze palsy", "HP:0025331": "Upgaze palsy", "HP:0025332": "Abnormality of foot cortical bone", "HP:0025333": "Cortical thinning of foot bones", "HP:0025334": "Triggered by emotion", "HP:0025335": "Delayed ability to stand", "HP:0025336": "Delayed ability to sit", "HP:0025337": "Red eye", "HP:0025338": "Circumlimbal hyperemia", "HP:0025339": "Superficial episcleral hyperemia", "HP:0025340": "Deep episcleral hyperemia", "HP:0025341": "Corneal keratic precipitates", "HP:0025342": "Central retinal artery occlusion", "HP:0025343": "Lupus anticoagulant", "HP:0025344": "Interlobular bile duct destruction", "HP:0025345": "Abnormality of circulating beta-2-microglobulin level", "HP:0025346": "Increased circulating beta-2-microglobulin level", "HP:0025347": "Decreased circulating beta-2-microglobulin level", "HP:0025348": "Abnormal corneal limbus morphology", "HP:0025349": "Limbal edema", "HP:0025350": "Giant conjunctival papillae", "HP:0025351": "Recurrent interdigital mycosis", "HP:0025352": "Typically de novo", "HP:0025353": "Anti-multiple nuclear dots antibody positivity", "HP:0025354": "Abnormal cellular phenotype", "HP:0025355": "Retinal arterial macroaneurysms", "HP:0025357": "Erratic myoclonus", "HP:0025358": "Uveal ectropion", "HP:0025359": "Polygonal renal calices", "HP:0025360": "Polycalycosis", "HP:0025361": "Abnormality of medullary pyramid morphology", "HP:0025362": "Renal medullary pyramid hypoplasia", "HP:0025363": "Glomerular endocapillary hypercellularity", "HP:0025364": "Glomerular extracapillary hypercellularity", "HP:0025367": "Trichoepithelioma", "HP:0025368": "Abnormal growth plate morphology", "HP:0025369": "Thick growth plates", "HP:0025370": "Abnormal ossification of the sacrum", "HP:0025371": "Delayed ossification of the sacrum", "HP:0025372": "Loud snoring", "HP:0025373": "Interictal EEG abnormality", "HP:0025374": "Duplicated odontoid process", "HP:0025375": "Orthotopic os odontoideum", "HP:0025376": "Hyperglutaminuria", "HP:0025377": "Triggered by exertion", "HP:0025379": "Anti-thyroid peroxidase antibody positivity", "HP:0025380": "Increased circulating androstenedione concentration", "HP:0025381": "Anti-pituitary antibody positivity", "HP:0025382": "Hypodipsia", "HP:0025383": "Dorsocervical fat pad", "HP:0025384": "Diet-resistant subcutaneous adipose tissue", "HP:0025385": "Diet-resistant subcutaneous adipose tissue below waist", "HP:0025386": "Bitemporal hollowing", "HP:0025387": "Pill-rolling tremor", "HP:0025388": "Thyroid nodule", "HP:0025389": "Pulmonary interstitial high-resolution computed tomography abnormality", "HP:0025390": "Reticular pattern on pulmonary HRCT", "HP:0025391": "Crazy paving pattern", "HP:0025392": "Nodular pattern on pulmonary HRCT", "HP:0025393": "Reticulonodular pattern on pulmonary HRCT", "HP:0025394": "Cystic pattern on pulmonary HRCT", "HP:0025395": "Combined cystic and ground-glass pattern on pulmonary HRCT", "HP:0025396": "Decreased attenuation pattern on pulmonary HRCT", "HP:0025397": "Mosaic attenuation pattern on pulmonary HRCT", "HP:0025398": "Nodular-perilymphatic pattern on pulmonary HRCT", "HP:0025399": "Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT", "HP:0025400": "Nodular-random pattern on pulmonary HRCT", "HP:0025401": "Staring gaze", "HP:0025402": "Square-wave jerks", "HP:0025403": "Stooped posture", "HP:0025404": "Abnormal visual fixation", "HP:0025405": "Visual fixation instability", "HP:0025406": "Asthenia", "HP:0025407": "Rectourethral fistula", "HP:0025408": "Abnormal spleen morphology", "HP:0025409": "Abnormal spleen physiology", "HP:0025410": "Splenogonadal fusion", "HP:0025413": "Fossa navicularis urethral stricture", "HP:0025414": "Pendulous urethral stricture", "HP:0025415": "Bulbar urethral stricture", "HP:0025416": "Vaginal stricture", "HP:0025417": "Patulous urethra", "HP:0025418": "Renal cortical necrosis", "HP:0025419": "Pulmonary pneumatocele", "HP:0025420": "Diffuse alveolar hemorrhage", "HP:0025421": "Pneumomediastinum", "HP:0025422": "Pleural cyst", "HP:0025423": "Abnormal larynx morphology", "HP:0025424": "Abnormal larynx physiology", "HP:0025425": "Laryngospasm", "HP:0025426": "Abnormal bronchus morphology", "HP:0025427": "Abnormal bronchus physiology", "HP:0025428": "Bronchospasm", "HP:0025429": "Abnormal cry", "HP:0025430": "High-pitched cry", "HP:0025431": "Staccato cry", "HP:0025432": "Acanthoma", "HP:0025433": "Decreased lecithin cholesterol acyl transferase level", "HP:0025434": "Reduced hemolytic complement activity", "HP:0025435": "Increased circulating lactate dehydrogenase concentration", "HP:0025436": "Elevated serum 11-deoxycortisol", "HP:0025437": "Macrocephalic sperm head", "HP:0025439": "Pharyngitis", "HP:0025440": "Warm reactive autoantibody positivity", "HP:0025441": "Achilles tendon calcification", "HP:0025443": "Abnormal cardiac atrial physiology", "HP:0025444": "Reduced amygdala volume", "HP:0025445": "Morphological abnormality of the papillary muscles", "HP:0025446": "Anomalous insertion of papillary muscle directly into anterior mitral leaflet", "HP:0025447": "Displacement of the papillary muscles", "HP:0025448": "Anterior displacement of the papillary muscles", "HP:0025449": "Apically displaced anterolateral papillary muscle", "HP:0025451": "Testicular adrenal rest tumor", "HP:0025452": "Pyoderma gangrenosum", "HP:0025453": "Delayed adrenarche", "HP:0025454": "Abnormal CSF metabolite concentration", "HP:0025455": "Decreased CSF 5-hydroxyindolacetic acid concentration", "HP:0025456": "Abnormal CSF protein concentration", "HP:0025457": "Decreased CSF protein concentration", "HP:0025458": "Decreased CSF albumin concentration", "HP:0025459": "Increased CSF/serum albumin ratio", "HP:0025460": "High myoinositol in brain by MRS", "HP:0025461": "Abnormal cell morphology", "HP:0025463": "Abnormality of redox activity", "HP:0025464": "Increased reactive oxygen species production", "HP:0025465": "Abnormal circulating beta globulin level", "HP:0025466": "Beta 2-microglobulinuria", "HP:0025469": "Anagen effluvium", "HP:0025470": "Telogen effluvium", "HP:0025471": "Congenital panfollicular nevus", "HP:0025472": "Recurrent plantar mycosis", "HP:0025473": "Hyperpigmented papule", "HP:0025474": "Erythematous plaque", "HP:0025475": "Erythematous macule", "HP:0025476": "Testicular lipomatosis", "HP:0025477": "Periarticular calcification", "HP:0025478": "Atrial standstill", "HP:0025479": "Self-neglect", "HP:0025480": "Lipomyelomeningocele", "HP:0025481": "Cervical hemivertebrae", "HP:0025482": "Positive perchlorate discharge test", "HP:0025483": "Abnormal circulating thyroglobulin level", "HP:0025484": "Increased circulating thyroglobulin level", "HP:0025485": "Vaginal adenosis", "HP:0025486": "Fused labia majora", "HP:0025487": "Abnormality of bladder morphology", "HP:0025488": "Detrusor sphincter dyssynergia", "HP:0025489": "Bladder duplication", "HP:0025490": "Myocardial bridging", "HP:0025491": "Venous stenosis", "HP:0025492": "Microcoria", "HP:0025493": "Palmoplantar erythema", "HP:0025494": "Coated aorta", "HP:0025495": "Descending aorta hypoplasia", "HP:0025496": "Abnormal coronary artery physiology", "HP:0025497": "Coronary artery spasm", "HP:0025498": "Aceruloplasminemia", "HP:0025499": "Class I obesity", "HP:0025500": "Class II obesity", "HP:0025501": "Class III obesity", "HP:0025502": "Overweight", "HP:0025503": "Anomalous coronary artery arising from the opposite sinus", "HP:0025505": "Anomalous origin of the circumflex artery from the right sinus of Valsalva", "HP:0025506": "Coronary artery sandwich anomaly", "HP:0025507": "Yellow papule", "HP:0025508": "Gottron's papules", "HP:0025509": "Piezogenic pedal papules", "HP:0025510": "Nevus spilus", "HP:0025511": "Nevus sebaceus", "HP:0025512": "Skin-colored papule", "HP:0025513": "Scleral rupture", "HP:0025514": "Morning glory anomaly", "HP:0025515": "Delayed thelarche", "HP:0025516": "Coronary-pulmonary artery fistula", "HP:0025517": "Hypoplastic hippocampus", "HP:0025518": "Visual gaze preference", "HP:0025519": "Multiple biliary hamartomas", "HP:0025520": "Calcinosis cutis", "HP:0025521": "Increased body fat percentage", "HP:0025522": "Elongated chordae tendinae of the mitral valve", "HP:0025523": "Abnormal morphology of the chordae tendinae of the mitral valve", "HP:0025524": "Palmoplantar scaling skin", "HP:0025525": "Scaling skin on fingertip", "HP:0025526": "Psoriasiform lesion", "HP:0025527": "Serpiginous cutaneous lesion", "HP:0025528": "Annular cutaneous lesion", "HP:0025529": "Hyperpigmented nodule", "HP:0025530": "Xanthomas of the palmar creases", "HP:0025531": "Harlequin phenomenon", "HP:0025532": "Positive pathergy test", "HP:0025533": "Peau d'orange", "HP:0025534": "Ocular melanocytosis", "HP:0025535": "Shawl sign", "HP:0025536": "V-sign", "HP:0025537": "Plantar edema", "HP:0025538": "Palmar edema", "HP:0025539": "Abnormal B cell subset distribution", "HP:0025540": "Abnormal T cell subset distribution", "HP:0025546": "Abnormal mean corpuscular hemoglobin concentration", "HP:0025547": "Decreased mean corpuscular hemoglobin concentration", "HP:0025548": "Increased mean corpuscular hemoglobin concentration", "HP:0025549": "Eccentric visual fixation", "HP:0025550": "Elevated circulating ribitol concentration", "HP:0025551": "Optic nerve misrouting", "HP:0025552": "Periorbital purpura", "HP:0025553": "Periorbital ecchymosis with tarsal plate sparing", "HP:0025554": "Yellow nodule", "HP:0025555": "Periungual teleangiectasia", "HP:0025558": "Lamellar cataract with riders", "HP:0025559": "Coronary cataract", "HP:0025560": "Anterior chamber cells", "HP:0025561": "Anterior chamber cells grade 1+", "HP:0025562": "Anterior chamber cells grade 0.5+", "HP:0025563": "Anterior chamber cells grade 0", "HP:0025564": "Anterior chamber cells grade 2+", "HP:0025565": "Anterior chamber cells grade 3+", "HP:0025566": "Anterior chamber cells grade 4+", "HP:0025567": "Central serous chorioretinopathy", "HP:0025568": "Abnormal morphology of the choroidal vasculature", "HP:0025569": "Polypoidal choroidal vasculopathy", "HP:0025570": "Choroidal vascular hyperpermeability", "HP:0025571": "Christmas tree cataract", "HP:0025572": "Punctal stenosis", "HP:0025573": "Mild myopia", "HP:0025574": "Macular hemorrhage", "HP:0025575": "Abnormal superior vena cava morphology", "HP:0025576": "Abnormal inferior vena cava morphology", "HP:0025578": "Aortic valve prolapse", "HP:0025579": "Abnormal left atrium morphology", "HP:0025580": "Abnormal right atrium morphology", "HP:0025581": "Foveal hemorrhage", "HP:0025582": "Submacular hemorrhage", "HP:0025583": "Tapetal-like fundal reflex", "HP:0025584": "Hypotropia", "HP:0025585": "Hyperphoria", "HP:0025586": "Hypertropia", "HP:0025587": "Hyperdeviation", "HP:0025588": "Hypodeviation", "HP:0025589": "Cyclodeviation", "HP:0025590": "Abnormal extraocular muscle physiology", "HP:0025591": "Abnormal superior oblique muscle physiology", "HP:0025592": "Superior oblique muscle weakness", "HP:0025593": "Superior oblique muscle restriction", "HP:0025594": "Superior oblique muscle overaction", "HP:0025595": "Superior oblique muscle underaction", "HP:0025596": "Abnormal inferior oblique muscle physiology", "HP:0025597": "Inferior oblique muscle restriction", "HP:0025598": "Inferior oblique muscle weakness", "HP:0025599": "Inferior oblique muscle overaction", "HP:0025600": "Abnormal inferior rectus muscle physiology", "HP:0025601": "Inferior rectus muscle weakness", "HP:0025602": "Inferior rectus muscle restriction", "HP:0025603": "Abnormal superior rectus muscle physiology", "HP:0025604": "Orbital schwannoma", "HP:0025605": "Lid lag on downgaze", "HP:0025606": "Abnormal medial rectus muscle physiology", "HP:0025607": "Upper eyelid entropion", "HP:0025608": "Cicatricial ectropion", "HP:0025609": "Anterior blepharitis", "HP:0025610": "Posterior blepharitis", "HP:0025611": "Epicanthus superciliaris", "HP:0025612": "Corneal astigmatism", "HP:0025613": "Focal emotional seizure", "HP:0025615": "Abscess", "HP:0025616": "Sterile abscess", "HP:0025617": "Abnormal plasma cell count", "HP:0025618": "Reduced plasma cell count", "HP:0025619": "Elevated plasma cell count", "HP:0025620": "Abnormal proportion of CD4+ central memory cells", "HP:0025623": "Abnormal proportion of CD4+ effector memory cells", "HP:0025624": "Reduced proportion of CD4+ effector memory T cells", "HP:0025625": "Elevated proportion of CD4+ effector memory T cells", "HP:0025626": "Increased circulating oleate level", "HP:0025627": "Increased circulating octadecanoate level", "HP:0025628": "Increased circulating myristoleate level", "HP:0025629": "Anti-myelin-associated glycoprotein antibody positivity", "HP:0025630": "Argininosuccinic aciduria", "HP:0025631": "Alpha-aminobutyric aciduria", "HP:0025632": "Reduced reactive oxygen species production in neutrophils", "HP:0025633": "Abnormal ureter morphology", "HP:0025634": "Abnormal ureter physiology", "HP:0025635": "Ureteral polyp", "HP:0025636": "Endometritis", "HP:0025637": "Vasospasm", "HP:0025638": "Elevated urinary N-butyrylglycine", "HP:0025639": "Increased urinary zinc level", "HP:0025640": "Abnormal urinary mineral level", "HP:0025641": "Elevated circulating glycolate concentration", "HP:0025643": "Tarlov cyst", "HP:0025644": "Fixation-off epileptiform discharges", "HP:0025646": "Bilateral polymicrogyria", "HP:0025647": "Steroid-sensitive nephrotic syndrome", "HP:0025648": "Steroid-sensitive nephrotic syndrome with infrequent relapses", "HP:0025649": "Steroid-sensitive nephrotic syndrome with frequent relapses", "HP:0025650": "Steroid-dependent nephrotic syndrome", "HP:0025652": "Abnormal placental adhesion into the uterine wall", "HP:0025653": "Placenta percreta", "HP:0025654": "Placenta acreta", "HP:0025655": "Placenta increta", "HP:0025656": "Prenatal double bubble sign", "HP:0025657": "Abnormal umbilical blood flow measurement", "HP:0025659": "Decreased circulating creatine kinase concentration", "HP:0025660": "Chiari type II malformation", "HP:0025661": "Chiari type III malformation", "HP:0025662": "Abnormal fetal skeletal morphology", "HP:0025663": "Reduced fetal femur/foot length ratio", "HP:0025664": "Moderate to late preterm birth", "HP:0025665": "Extremely preterm birth", "HP:0025666": "Very preterm birth", "HP:0025667": "Fetal neck anomaly", "HP:0025668": "Abnormal neck morphology", "HP:0025669": "Abnormal neck physiology", "HP:0025670": "Syntelencephaly", "HP:0025671": "Fetal pericardial effusion", "HP:0025672": "Fetal skin edema", "HP:0025673": "Loculated ascites", "HP:0025674": "Meconium pseudocyst", "HP:0025675": "Premature closure of the ductus arteriosus", "HP:0025676": "Fetal pleural effusion", "HP:0025677": "Fetal chylothorax", "HP:0025678": "Fetal hydrothorax", "HP:0025679": "Diskitis", "HP:0025680": "Compound muscle action potential amplitude facilitation", "HP:0025681": "Distal clavicular thinning", "HP:0025682": "Crouch gait", "HP:0025683": "Abnormal amyloid beta 42 peptide CSF concentration", "HP:0025684": "Decreased amyloid beta 42 peptide CSF concentration", "HP:0025685": "Increased amyloid beta 42 peptide CSF concentration", "HP:0025686": "Abnormal amyloid beta 40 peptide CSF concentration", "HP:0025687": "Increased amyloid beta 40 peptide CSF concentration", "HP:0025688": "Abnormal amyloid beta peptide CSF concentration", "HP:0025689": "Extra-abdominal umbilical vein varix", "HP:0025690": "Fetal intra-abdominal umbilical vein varix", "HP:0025691": "Impaired fasting glucose", "HP:0025692": "Atelencephaly", "HP:0025693": "Pituitary macroadenoma", "HP:0025694": "Pituitary microadenoma", "HP:0025695": "Mucus plug", "HP:0025696": "Airway casts", "HP:0025697": "Fibrin casts", "HP:0025698": "Mucin casts", "HP:0025699": "Perisylvian FDG hypermetabolism", "HP:0025700": "Anhydramnios", "HP:0025701": "Distended jugular lymphatic sacs", "HP:0025702": "Type 1 schizencephaly", "HP:0025703": "Type 2 schizencephaly", "HP:0025704": "Type 3 schizencephaly", "HP:0025705": "Abnormal fetal nasal bone visualization", "HP:0025706": "Absent fetal nasal bone", "HP:0025707": "Hypoplastic nasal bone", "HP:0025708": "Early young adult onset", "HP:0025709": "Intermediate young adult onset", "HP:0025710": "Late young adult onset", "HP:0025711": "Convergence-retraction nystagmus", "HP:0025712": "Spontaneous chorioamniotic separation", "HP:0025713": "Neurite dystrophy", "HP:0025714": "Cerebral cortical microinfarct", "HP:0025715": "Abnormal umbilical artery doppler waveform during pregnancy", "HP:0025716": "Fetal anemia", "HP:0025717": "Skeletal muscle autophagosome accumulation", "HP:0025718": "Skeletal muscle hyperechogenicity", "HP:0025719": "Maternal vascular malperfusion", "HP:0025720": "Limited horizontal extraocular movement", "HP:0025721": "Limited vertical extraocular movement", "HP:0025722": "Cerebral infarct", "HP:0025723": "Abnormal fetal skin morphology", "HP:0025724": "Caseous vernix-like desquamation", "HP:0025725": "Type 1 congenital pulmonary airway malformation", "HP:0025726": "Type 2 congenital pulmonary airway malformation", "HP:0025727": "Type 3 congenital pulmonary airway malformation", "HP:0025728": "Periventricular pseudocyst", "HP:0025729": "Fetal vascular malperfusion", "HP:0025730": "Foramen ovale aneurysm", "HP:0030000": "EMG: repetitive nerve stimulation abnormality", "HP:0030001": "Lagophthalmos", "HP:0030002": "Nocturnal lagophthalmos", "HP:0030003": "Paralytic lagophthalmos", "HP:0030004": "Cicatricial lagophthalmos", "HP:0030005": "Capillary leak", "HP:0030006": "Single fiber EMG abnormality", "HP:0030007": "EMG: positive sharp waves", "HP:0030008": "Cervical agenesis", "HP:0030009": "Cervical insufficiency", "HP:0030010": "Hydrometrocolpos", "HP:0030011": "Imperforate hymen", "HP:0030012": "Abnormal female reproductive system physiology", "HP:0030014": "Female sexual dysfunction", "HP:0030015": "Female anorgasmia", "HP:0030016": "Dyspareunia", "HP:0030017": "Vaginismus", "HP:0030018": "Decreased female libido", "HP:0030019": "Increased female libido", "HP:0030021": "Auricular tag", "HP:0030022": "Question mark ear", "HP:0030023": "Quelprud nodule", "HP:0030024": "Pretragal ectopia", "HP:0030025": "Auricular pit", "HP:0030026": "Squared superior portion of helix", "HP:0030027": "Abnormal nasal cartilage morphology", "HP:0030028": "Absent nasal cartilage", "HP:0030029": "Splayed fingers", "HP:0030030": "Absent ray", "HP:0030031": "Small toe", "HP:0030032": "Partial absence of foot", "HP:0030033": "Small finger", "HP:0030034": "Glomerular basement membrane lamellation", "HP:0030035": "Struvite nephrolithiasis", "HP:0030036": "Isothenuria", "HP:0030037": "Bifid ureter", "HP:0030038": "Enchondroma", "HP:0030039": "Fused thoracic vertebrae", "HP:0030040": "Fused lumbar vertebrae", "HP:0030041": "Schmorl's node", "HP:0030042": "Incomplete ossification of pubis", "HP:0030043": "Hip subluxation", "HP:0030044": "Flexion contracture of digit", "HP:0030045": "Serpentine fibula", "HP:0030046": "Hypoglycosylation of alpha-dystroglycan", "HP:0030047": "Abnormal lateral ventricle morphology", "HP:0030048": "Colpocephaly", "HP:0030049": "Brain abscess", "HP:0030050": "Narcolepsy", "HP:0030051": "Tip-toe gait", "HP:0030052": "Inguinal freckling", "HP:0030053": "Stiff skin", "HP:0030054": "Perifollicular fibrosis", "HP:0030055": "Hyperconvex toenail", "HP:0030056": "Uncombable hair", "HP:0030057": "Autoimmune antibody positivity", "HP:0030058": "Sickled erythrocytes", "HP:0030059": "Mitochondrial depletion", "HP:0030060": "Nervous tissue neoplasm", "HP:0030061": "Neuroectodermal neoplasm", "HP:0030062": "Craniopharyngioma", "HP:0030063": "Neuroepithelial neoplasm", "HP:0030064": "Neurocytoma", "HP:0030065": "Primitive neuroectodermal tumor", "HP:0030066": "Ependymoblastoma", "HP:0030067": "Peripheral primitive neuroectodermal neoplasm", "HP:0030068": "Olfactory esthesioneuroblastoma", "HP:0030069": "Primary central nervous system lymphoma", "HP:0030070": "Central primitive neuroectodermal tumor", "HP:0030071": "Medulloepithelioma", "HP:0030072": "Paranasal sinus neoplasm", "HP:0030074": "Chemodectoma", "HP:0030075": "Ductal carcinoma in situ", "HP:0030076": "Lobular carcinoma in situ", "HP:0030077": "Bronchial neoplasm", "HP:0030078": "Lung adenocarcinoma", "HP:0030079": "Cervix cancer", "HP:0030080": "Burkitt lymphoma", "HP:0030081": "Punctate periventricular T2 hyperintense foci", "HP:0030082": "Abnormal drinking behavior", "HP:0030083": "Salt craving", "HP:0030084": "Clinodactyly", "HP:0030085": "Abnormal CSF lactate concentration", "HP:0030086": "Reduced CSF lactate", "HP:0030087": "Abnormal circulating testosterone concentration", "HP:0030088": "Increased serum testosterone level", "HP:0030089": "Abnormal muscle fiber protein expression", "HP:0030090": "Abnormal muscle fiber merosin expression", "HP:0030091": "Absent muscle fiber merosin", "HP:0030092": "Reduced muscle fiber merosin", "HP:0030093": "Abnormal muscle fiber laminin beta 1", "HP:0030094": "Reduced muscle fiber laminin beta 1", "HP:0030095": "Reduced muscle collagen VI", "HP:0030096": "Abnormal muscle fiber dystrophin expression", "HP:0030097": "Absent muscle dystrophin expression", "HP:0030098": "Reduced muscle dystrophin expression", "HP:0030099": "Reduced muscle fiber alpha dystroglycan", "HP:0030100": "Abnormal muscle fiber alpha sarcoglycan", "HP:0030101": "Absent muscle fiber alpha sarcoglycan", "HP:0030102": "Reduced muscle fiber alpha sarcoglycan", "HP:0030103": "Abnormal muscle fiber beta sarcoglycan", "HP:0030104": "Abnormal muscle fiber gamma sarcoglycan", "HP:0030105": "Abnormal muscle fiber delta sarcoglycan", "HP:0030106": "Absent muscle fiber beta sarcoglycan", "HP:0030107": "Reduced muscle fiber beta sarcoglycan", "HP:0030108": "Reduced muscle fiber gamma sarcoglycan", "HP:0030109": "Absent muscle fiber gamma sarcoglycan", "HP:0030110": "Absent muscle fiber delta sarcoglycan", "HP:0030111": "Reduced muscle fiber delta sarcoglycan", "HP:0030112": "Abnormal muscle fiber alpha dystroglycan", "HP:0030113": "Abnormal muscle fiber dysferlin", "HP:0030114": "Absent muscle fiber dysferlin", "HP:0030115": "Reduced muscle fiber dysferlin", "HP:0030116": "Abnormal muscle fiber emerin", "HP:0030117": "Absent muscle fiber emerin", "HP:0030118": "Reduced muscle fiber emerin", "HP:0030119": "Abnormal muscle fiber calpain-3", "HP:0030120": "Absent muscle fiber calpain-3", "HP:0030121": "Reduced muscle fiber calpain-3", "HP:0030122": "Reduced muscle fiber perlecan", "HP:0030123": "Abnormal muscle fiber lamin A/C", "HP:0030124": "Reduced muscle fiber lamin A/C", "HP:0030125": "Sacralization of the fifth lumbar vertebra", "HP:0030126": "Abnormal endometrium morphology", "HP:0030127": "Endometriosis", "HP:0030129": "Impaired ristocetin cofactor assay activity", "HP:0030130": "Impaired von Willebrand factor collagen binding activity", "HP:0030131": "Abnormal von Willebrand factor multimer distribution", "HP:0030132": "Absence of large von Willebrand factor multimers", "HP:0030133": "Abnormal presence of ultra-large von Willebrand factor multimers", "HP:0030134": "Total absence von Willebrand factor multimers", "HP:0030135": "Absence of intermediate von Willebrand factor multimers", "HP:0030136": "Enhanced ristocetin cofactor assay activity", "HP:0030137": "Prolonged bleeding following circumcision", "HP:0030138": "Excessive bleeding from superficial cuts", "HP:0030139": "Excessive bleeding after a venipuncture", "HP:0030140": "Oral cavity bleeding", "HP:0030141": "Abnormality of the posterior hairline", "HP:0030142": "Abnormal bowel sounds", "HP:0030143": "Hyperactive bowel sounds", "HP:0030144": "Hypoactive bowel sounds", "HP:0030145": "Lack of bowel sounds", "HP:0030146": "Abnormal liver parenchyma morphology", "HP:0030147": "Truncal titubation", "HP:0030148": "Heart murmur", "HP:0030149": "Cardiogenic shock", "HP:0030150": "Plasmacytosis", "HP:0030151": "Cholangitis", "HP:0030153": "Cholangiocarcinoma", "HP:0030154": "Gallbladder perforation", "HP:0030155": "Scrotal pain", "HP:0030156": "Bence Jones Proteinuria", "HP:0030157": "Flank pain", "HP:0030158": "Cervical ectropion", "HP:0030159": "Cervical polyp", "HP:0030160": "Cervicitis", "HP:0030161": "Vaginal pruritus", "HP:0030162": "Glomerulomegaly", "HP:0030163": "Abnormal vascular physiology", "HP:0030164": "Jaw claudication", "HP:0030165": "Temporal artery tortuosity", "HP:0030166": "Night sweats", "HP:0030167": "Antimitochondrial antibody positivity", "HP:0030168": "Dilated superficial abdominal veins", "HP:0030169": "Gastric varix", "HP:0030170": "Cystic artery pseudoaneurysm", "HP:0030171": "Perirenal hematoma", "HP:0030172": "Peripheral amyelination", "HP:0030173": "Peripheral hypermyelination", "HP:0030174": "Increased peripheral myelin thickness", "HP:0030175": "Myelin tomacula", "HP:0030176": "Asymmetric peripheral demyelination", "HP:0030177": "Abnormality of peripheral nervous system electrophysiology", "HP:0030178": "Abnormality of central nervous system electrophysiology", "HP:0030179": "Abnormal peripheral action potential amplitude", "HP:0030180": "Oppenheim reflex", "HP:0030181": "Gordon reflex", "HP:0030182": "Tetraplegia/tetraparesis", "HP:0030183": "Impaired visually enhanced vestibulo-ocular reflex", "HP:0030185": "Isometric tremor", "HP:0030186": "Kinetic tremor", "HP:0030187": "Titubation", "HP:0030188": "Tremor by anatomical site", "HP:0030190": "Oral motor hypotonia", "HP:0030191": "Abnormal peripheral nervous system synaptic transmission", "HP:0030192": "Fatigable weakness of bulbar muscles", "HP:0030193": "Fatigable weakness of chewing muscles", "HP:0030194": "Fatigable weakness of speech muscles", "HP:0030195": "Fatigable weakness of swallowing muscles", "HP:0030196": "Fatigable weakness of respiratory muscles", "HP:0030197": "Fatigable weakness of skeletal muscles", "HP:0030198": "Fatigable weakness of distal limb muscles", "HP:0030199": "Fatigable weakness of neck muscles", "HP:0030200": "Fatiguable weakness of proximal limb muscles", "HP:0030201": "Response to drugs acting on neuromuscular transmission", "HP:0030202": "Favorable response of weakness to acetylcholine esterase inhibitors", "HP:0030203": "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors", "HP:0030205": "Increased jitter at single fiber EMG", "HP:0030206": "EMG: incremental response of compound muscle action potential to repetitive nerve stimulation", "HP:0030207": "Paradoxical respiration", "HP:0030208": "Anti-acetylcholine receptor antibody positivity", "HP:0030209": "Calcium channel antibody positivity", "HP:0030210": "Anti-muscle-specific tyrosine kinase antibody", "HP:0030211": "Slow pupillary light response", "HP:0030212": "Collectionism", "HP:0030213": "Emotional blunting", "HP:0030214": "Hypersexuality", "HP:0030215": "Inappropriate crying", "HP:0030216": "Inertia", "HP:0030217": "Limb apraxia", "HP:0030218": "Punding", "HP:0030219": "Semantic dementia", "HP:0030220": "Socially inappropriate behavior", "HP:0030221": "Sweet craving", "HP:0030222": "Visual agnosia", "HP:0030223": "Manifestations of perseverative thought or action", "HP:0030224": "Abnormal muscle fiber desmin", "HP:0030225": "Accumulation of muscle fiber desmin", "HP:0030226": "Abnormal muscle fiber myotilin", "HP:0030227": "Accumulation of muscle fiber myotilin", "HP:0030228": "Abnormal muscle fiber valosin-containing protein", "HP:0030229": "Accumulation of muscle fiber valosin-containing protein", "HP:0030230": "Central core regions in muscle fibers", "HP:0030231": "Glycogen accumulation in muscle fiber lysosomes", "HP:0030232": "Increased sarcoplasmic glycogen", "HP:0030233": "Bethlem sign", "HP:0030234": "Highly elevated creatine kinase", "HP:0030235": "Extremely elevated creatine kinase", "HP:0030236": "Abnormality of muscle size", "HP:0030237": "Hand muscle weakness", "HP:0030239": "Hypoplasia of the upper arm musculature", "HP:0030241": "Hypoplasia of deltoid muscle", "HP:0030242": "Portal vein thrombosis", "HP:0030243": "Hepatic vein thrombosis", "HP:0030244": "Maternal fever in pregnancy", "HP:0030245": "Intrapartum fever", "HP:0030246": "Maternal first trimester fever", "HP:0030247": "Splanchnic vein thrombosis", "HP:0030248": "Mesenteric venous thrombosis", "HP:0030249": "Enanthema", "HP:0030250": "Pulmonary granulomatosis", "HP:0030251": "Absence of memory B cells", "HP:0030252": "Absent circulating B cells", "HP:0030253": "Defective T cell proliferation", "HP:0030254": "Nail bed hemorrhage", "HP:0030255": "Large intestinal polyposis", "HP:0030256": "Small intestinal polyposis", "HP:0030257": "Freckled genitalia", "HP:0030258": "Hyperpigmented genitalia", "HP:0030259": "Hypopigmented genitalia", "HP:0030260": "Microphallus", "HP:0030261": "Absent penis", "HP:0030262": "Narrow penis", "HP:0030263": "Torsion of the penis", "HP:0030264": "Webbed penis", "HP:0030265": "Wide penis", "HP:0030267": "Calcification of the interosseus membrane of the forearm", "HP:0030268": "Hyperplastic callus formation", "HP:0030269": "Increased circulating insulin-like growth factor 1 concentration", "HP:0030270": "Elevated red cell adenosine deaminase level", "HP:0030271": "Reduced erythrocyte 2,3-diphosphoglycerate concentration", "HP:0030272": "Abnormal erythrocyte enzyme level", "HP:0030273": "Reduced red cell adenosine deaminase level", "HP:0030274": "Accessory scrotum", "HP:0030275": "Ectopic scrotum", "HP:0030277": "Abnormal vertebral pedicle morphology", "HP:0030278": "Hypoplastic vertebral pedicle", "HP:0030279": "Hypoplastic L5 vertebral pedicle", "HP:0030280": "Rib gap", "HP:0030281": "Cervical C3/C4 vertebral fusion", "HP:0030282": "Posterior rib gap", "HP:0030283": "Partial absence of the septum pellucidum", "HP:0030284": "Triangular tongue", "HP:0030285": "Splayed superior cerebellar peduncle", "HP:0030286": "Atrophic superior cerebellar peduncle", "HP:0030289": "Flattened femoral epiphysis", "HP:0030290": "Unossified sacrum", "HP:0030291": "Lower-limb metaphyseal irregularity", "HP:0030292": "Tibial metaphyseal irregularity", "HP:0030293": "Fibular metaphyseal irregularity", "HP:0030294": "Metaphyseal chondromatosis of tibia", "HP:0030295": "Metaphyseal chondromatosis of femur", "HP:0030296": "Metaphyseal chondromatosis of radius", "HP:0030297": "Metaphyseal chondromatosis of ulna", "HP:0030298": "Metaphyseal chondromatosis of humerus", "HP:0030299": "Distal femoral metaphyseal abnormality", "HP:0030300": "10 pairs of ribs", "HP:0030301": "Abnormality of the anterior commissure", "HP:0030302": "Agenesis of the anterior commissure", "HP:0030303": "Hypoplastic anterior commissure", "HP:0030304": "Abnormal number of vertebrae", "HP:0030305": "Decreased number of vertebrae", "HP:0030306": "11 thoracic vertebrae", "HP:0030307": "Flared lower limb metaphysis", "HP:0030308": "Flared distal tibial metaphysis", "HP:0030309": "Flared distal fibular metaphysis", "HP:0030310": "Upper extremity joint dislocation", "HP:0030311": "Lower extremity joint dislocation", "HP:0030312": "Obliteration of the calvarial diploe", "HP:0030313": "Abnormal periosteum morphology", "HP:0030314": "Periostosis", "HP:0030318": "Angular cheilitis", "HP:0030319": "Weakness of facial musculature", "HP:0030320": "Increased intervertebral space", "HP:0030321": "Abnormal vertebral artery morphology", "HP:0030322": "Vertebral artery hypoplasia", "HP:0030323": "Unilateral vertebral artery hypoplasia", "HP:0030324": "Bilateral vertebral artery hypoplasia", "HP:0030325": "Cervicomedullary schisis", "HP:0030326": "Abnormal macrophage count", "HP:0030327": "Abnormal osteoclast count", "HP:0030328": "Decreased osteoclast count", "HP:0030329": "Retinal thinning", "HP:0030330": "Multinucleated giant chondrocytes in epiphyseal cartilage", "HP:0030331": "Impaired stimulus-induced skin wrinkling", "HP:0030333": "Abnormal alpha-beta T cell morphology", "HP:0030334": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology", "HP:0030335": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count", "HP:0030336": "Absence of CD4-positive, CD25-positive regulatory T cells", "HP:0030337": "Elevated CD4-positive, CD25-positive regulatory T cell count", "HP:0030338": "Abnormal circulating gonadotropin concentration", "HP:0030339": "Decreased circulating gonadotropin concentration", "HP:0030341": "Decreased circulating follicle stimulating hormone concentration", "HP:0030344": "Decreased circulating luteinizing hormone level", "HP:0030345": "Abnormal circulating luteinizing hormone concentration", "HP:0030346": "Abnormal circulating follicle-stimulating hormone concentration", "HP:0030347": "Abnormal circulating androgen level", "HP:0030348": "Increased circulating androgen concentration", "HP:0030349": "Decreased circulating androgen concentration", "HP:0030350": "Erythematous papule", "HP:0030351": "Urticarial plaque", "HP:0030352": "Abnormal serum insulin-like growth factor 1 level", "HP:0030353": "Decreased serum insulin-like growth factor 1", "HP:0030354": "Abnormal circulating interferon concentration", "HP:0030355": "Abnormal circulating interferon-gamma concentration", "HP:0030356": "Increased circulating interferon-gamma concentration", "HP:0030357": "Small cell lung carcinoma", "HP:0030358": "Non-small cell lung carcinoma", "HP:0030359": "Squamous cell lung carcinoma", "HP:0030360": "Large cell lung carcinoma", "HP:0030361": "Abnormal circulating eicosanoid concentration", "HP:0030362": "Reduced muscle carnitine level", "HP:0030363": "Primary Caesarian section", "HP:0030364": "Secondary Caesarian section", "HP:0030365": "Vaginal birth after Caesarian", "HP:0030366": "Delivery by Odon device", "HP:0030367": "Finger hyperphalangy", "HP:0030368": "Hyperphalangy of the 2nd finger", "HP:0030369": "Induced vaginal delivery", "HP:0030370": "Abnormal proportion of naive B cells", "HP:0030371": "Increased proportion of naive B cells", "HP:0030372": "Decreased proportion of naive B cells", "HP:0030373": "Abnormal proportion of memory B cells", "HP:0030374": "Decreased proportion of memory B cells", "HP:0030375": "Increased proportion of memory B cells", "HP:0030376": "Abnormal proportion of immature B cells", "HP:0030377": "Increased proportion of immature B cells", "HP:0030378": "Decreased proportion of immature B cells", "HP:0030379": "Abnormal proportion of transitional B cells", "HP:0030380": "Decreased proportion of transitional B cells", "HP:0030381": "Increased proportion of transitional B cells", "HP:0030383": "Abnormal proportion of marginal zone B cells", "HP:0030384": "Decreased proportion of marginal zone B cells", "HP:0030385": "Increased proportion of marginal zone B cells", "HP:0030386": "Abnormal proportion of class-switched memory B cells", "HP:0030387": "Increased proportion of class-switched memory B cells", "HP:0030388": "Decreased proportion of class-switched memory B cells", "HP:0030389": "Abnormal circulating thromboxane concentration", "HP:0030390": "Reduced circulating leukotriene C4 concentration", "HP:0030391": "Spoken word recognition deficit", "HP:0030392": "Choroid plexus carcinoma", "HP:0030393": "Endolymphatic sac tumor", "HP:0030394": "Fallopian tube carcinoma", "HP:0030396": "Abnormal platelet granule secretion", "HP:0030397": "Abnormal platelet dense granule secretion", "HP:0030398": "Abnormal platelet ATP dense granule secretion", "HP:0030399": "Abnormal platelet alpha granule secretion", "HP:0030400": "Abnormal platelet lysosome secretion", "HP:0030401": "Abnormal platelet dense granule ATP/ADP ratio", "HP:0030402": "Abnormal platelet aggregation", "HP:0030403": "Spontaneous platelet aggregation", "HP:0030404": "Glucagonoma", "HP:0030405": "Pancreatic endocrine tumor", "HP:0030406": "Primary peritoneal carcinoma", "HP:0030407": "Pineocytoma", "HP:0030408": "Pineoblastoma", "HP:0030409": "Renal transitional cell carcinoma", "HP:0030410": "Sebaceous gland carcinoma", "HP:0030411": "Jejunal adenocarcinoma", "HP:0030412": "Ileal adenocarcinoma", "HP:0030413": "Squamous cell carcinoma of the tongue", "HP:0030414": "Verrucous cell carcinoma of the tongue", "HP:0030415": "Sarcomatoid carcinoma of the tongue", "HP:0030416": "Vulvar neoplasm", "HP:0030417": "Squamous cell carcinoma of the vulva", "HP:0030418": "Vulvar melanoma", "HP:0030419": "Bartholin gland carcinoma", "HP:0030420": "Vulvar adenocarcinoma", "HP:0030421": "Epididymal neoplasm", "HP:0030423": "Splenic cyst", "HP:0030424": "Epididymal cyst", "HP:0030425": "Calcified ovarian cyst", "HP:0030426": "Ossifying fibroma", "HP:0030427": "Ossifying fibroma of the jaw", "HP:0030428": "Cutaneous myxoma", "HP:0030429": "Juvenile nasopharyngeal angiofibroma", "HP:0030430": "Neuroma", "HP:0030431": "Osteochondroma", "HP:0030432": "Chondroblastoma", "HP:0030433": "Osteoid osteoma", "HP:0030434": "Pilomatrixoma", "HP:0030436": "Fibrofolliculoma", "HP:0030437": "Anal canal neoplasm", "HP:0030438": "Anal canal squamous cell carcinoma", "HP:0030439": "Anal canal adenocarcinoma", "HP:0030440": "Anal margin neoplasm", "HP:0030441": "Anal margin Paget's disease", "HP:0030442": "Anal margin squamous cell carcinoma", "HP:0030443": "Anal margin basal cell carcinoma", "HP:0030444": "Anal margin melanoma", "HP:0030445": "Pulmonary carcinoid tumor", "HP:0030446": "Atypical pulmonary carcinoid tumor", "HP:0030447": "Merkel cell skin cancer", "HP:0030448": "Soft tissue sarcoma", "HP:0030449": "Therapeutic abortion", "HP:0030450": "Neoplasm of the autonomic nervous system", "HP:0030451": "Mesenteric cyst", "HP:0030452": "Chylolymphatic mesenteric cyst", "HP:0030453": "Abnormal visual electrophysiology", "HP:0030454": "Abnormal electrooculogram", "HP:0030455": "Abnormality of pattern visual evoked potentials", "HP:0030456": "Abnormality of pattern onset/offset visual evoked potentials", "HP:0030457": "Abnormal amplitude of pattern onset/offset visual evoked potentials", "HP:0030458": "Abnormal timing of pattern onset/offset visual evoked potentials", "HP:0030460": "Abnormal timing of pattern reversal visual evoked potentials", "HP:0030461": "Abnormal timing of flash visual evoked potentials", "HP:0030462": "Abnormal amplitude of flash visual evoked potentials", "HP:0030463": "Asymmetrical distribution of flash visual evoked potentials", "HP:0030464": "Asymmetrical distribution of pattern reversal visual evoked potentials", "HP:0030465": "Undetectable light-adapted electroretinogram", "HP:0030466": "Abnormal full-field electroretinogram", "HP:0030467": "Abnormal pattern electroretinogram", "HP:0030468": "Abnormal multifocal electroretinogram", "HP:0030469": "Abnormal dark-adapted electroretinogram", "HP:0030470": "Abnormal dark-adapted bright flash electroretinogram", "HP:0030471": "Abnormal dark-adapted dim flash electroretinogram", "HP:0030472": "Abnormal light-adapted single flash electroretinogram", "HP:0030473": "Abnormal light-adapted flicker electroretinogram", "HP:0030474": "Undetectable dark-adapted electroretinogram", "HP:0030475": "Abnormal timing of dark-adapted dim flash electroretinogram", "HP:0030476": "Abnormal amplitude of dark-adapted dim flash electroretinogram", "HP:0030477": "Abnormal timing of dark-adapted bright flash electroretinogram", "HP:0030478": "Abnormal amplitude of dark-adapted bright flash electroretinogram", "HP:0030479": "Abnormal amplitude of light-adapted flicker electroretinogram", "HP:0030480": "Abnormal timing of light-adapted flicker electroretinogram", "HP:0030481": "Abnormal amplitude of light-adapted single flash electroretinogram", "HP:0030482": "Abnormal timing of light-adapted single flash electroretinogram", "HP:0030483": "Reduced amplitude of dark-adapted bright flash electroretinogram a-wave", "HP:0030484": "Supernormal dark-adapted bright flash electroretinogram b-wave", "HP:0030485": "Abnormal amplitude of pattern electroretinogram", "HP:0030486": "Abnormal timing of pattern electroretinogram", "HP:0030487": "Abnormal P50/N95 ratio of pattern electroretinogram", "HP:0030488": "Abnormal central response of multifocal electroretinogram", "HP:0030489": "Abnormal paracentral response of multifocal electroretinogram", "HP:0030490": "Exudative vitreoretinopathy", "HP:0030491": "Choriocapillaris atrophy", "HP:0030493": "Abnormality of foveal pigmentation", "HP:0030494": "Macular microaneurysm/hemorrhage", "HP:0030495": "Abnormality morphology of the macular vasculature", "HP:0030496": "Macular exudate", "HP:0030497": "Macular cotton wool spot", "HP:0030498": "Macular thickening", "HP:0030499": "Macular drusen", "HP:0030500": "Yellow/white lesions of the macula", "HP:0030501": "Macular crystals", "HP:0030502": "Retinoschisis", "HP:0030503": "Macular telangiectasia", "HP:0030504": "Grouped congenital hypertrophy of retinal pigment epithelium", "HP:0030505": "Nummular pigmentation of the fundus", "HP:0030506": "Yellow/white lesions of the retina", "HP:0030507": "Retinal crystals", "HP:0030508": "Retinal cavernous hemangioma", "HP:0030509": "Retinal racemose hemangioma", "HP:0030510": "Combined hamartoma of the retinal pigment epithelium and retina", "HP:0030511": "Bradyopsia", "HP:0030512": "Difficulty adjusting to changes in luminance", "HP:0030513": "Difficulty adjusting from light to dark", "HP:0030514": "Difficulty adjusting from dark to light", "HP:0030515": "Moderately reduced visual acuity", "HP:0030516": "Homonymous hemianopia", "HP:0030517": "Heteronymous hemianopia", "HP:0030518": "Congruous homonymous hemianopia", "HP:0030519": "Congruous heteronymous hemianopia", "HP:0030520": "Binasal hemianopia", "HP:0030521": "Bitemporal hemianopia", "HP:0030522": "Mild constriction of peripheral visual field", "HP:0030525": "Moderate constriction of peripheral visual field", "HP:0030526": "Severe constriction of peripheral visual field", "HP:0030527": "Very severe constriction of peripheral visual field", "HP:0030528": "Paracentral scotoma", "HP:0030529": "Ring scotoma", "HP:0030530": "Arcuate scotoma", "HP:0030531": "Altitudinal visual field defect", "HP:0030532": "Visual acuity test abnormality", "HP:0030533": "Abnormal unaided visual acuity test", "HP:0030534": "Abnormal best corrected visual acuity test", "HP:0030535": "Abnormal pinhole visual acuity test", "HP:0030536": "Unaided visual acuity 0.1 LogMAR", "HP:0030537": "Unaided visual acuity 0.2 LogMAR", "HP:0030538": "Unaided visual acuity 0.3 LogMAR", "HP:0030539": "Unaided visual acuity 0.4 LogMAR", "HP:0030540": "Unaided visual acuity 0.5 LogMAR", "HP:0030541": "Unaided visual acuity 0.6 LogMAR", "HP:0030542": "Unaided visual acuity 0.7 LogMAR", "HP:0030543": "Unaided visual acuity 0.8 LogMAR", "HP:0030544": "Unaided visual acuity 0.9 LogMAR", "HP:0030545": "Unaided visual acuity 1.0 LogMAR", "HP:0030546": "Unaided visual acuity 1.1 LogMAR", "HP:0030547": "Unaided visual acuity 1.2 LogMAR", "HP:0030548": "Unaided visual acuity 1.3 LogMAR", "HP:0030549": "Unaided visual acuity 2.0 LogMAR", "HP:0030550": "Unaided visual acuity 3.0 LogMAR", "HP:0030551": "Visual acuity light perception with projection", "HP:0030552": "Visual acuity light perception without projection", "HP:0030553": "Visual acuity no light perception", "HP:0030554": "Best corrected visual acuity 0.1 LogMAR", "HP:0030555": "Best corrected visual acuity 0.2 LogMAR", "HP:0030556": "Best corrected visual acuity 0.3 LogMAR", "HP:0030557": "Best corrected visual acuity 0.4 LogMAR", "HP:0030558": "Best corrected visual acuity 0.5 LogMAR", "HP:0030559": "Best corrected visual acuity 0.7 LogMAR", "HP:0030560": "Best corrected visual acuity 0.6 LogMAR", "HP:0030561": "Best corrected visual acuity 0.8 LogMAR", "HP:0030562": "Best corrected visual acuity 0.9 LogMAR", "HP:0030563": "Best corrected visual acuity 1.0 LogMAR", "HP:0030564": "Best corrected visual acuity 1.1 LogMAR", "HP:0030565": "Best corrected visual acuity 1.2 LogMAR", "HP:0030566": "Best corrected visual acuity 1.3 LogMAR", "HP:0030567": "Best corrected visual acuity 2.0 LogMAR", "HP:0030568": "Best corrected visual acuity 3.0 LogMAR", "HP:0030569": "Pinhole visual acuity 0.1 LogMAR", "HP:0030570": "Pinhole visual acuity 0.2 LogMAR", "HP:0030571": "Pinhole visual acuity 0.3 LogMAR", "HP:0030572": "Pinhole visual acuity 0.4 LogMAR", "HP:0030573": "Pinhole visual acuity 0.5 LogMAR", "HP:0030574": "Pinhole visual acuity 0.6 LogMAR", "HP:0030575": "Pinhole visual acuity 0.7 LogMAR", "HP:0030576": "Pinhole visual acuity 0.8 LogMAR", "HP:0030577": "Pinhole visual acuity 0.9 LogMAR", "HP:0030578": "Pinhole visual acuity 1.0 LogMAR", "HP:0030579": "Pinhole visual acuity 1.1 LogMAR", "HP:0030580": "Pinhole visual acuity 1.2 LogMAR", "HP:0030581": "Pinhole visual acuity 1.3 LogMAR", "HP:0030582": "Pinhole visual acuity 2.0 LogMAR", "HP:0030583": "Pinhole visual acuity 3.0 LogMAR", "HP:0030584": "Color vision test abnormality", "HP:0030585": "Red desaturation", "HP:0030586": "Abnormal Ishihara plate test", "HP:0030587": "Abnormal Hardy-Rand-Rittler plate test", "HP:0030588": "Abnormal visual field test", "HP:0030589": "Abnormal confrontational visual field test", "HP:0030590": "Abnormal Amsler grid test", "HP:0030591": "Abnormal kinetic perimetry test", "HP:0030592": "Abnormal static perimetry test", "HP:0030593": "Abnormal manual kinetic perimetry test", "HP:0030594": "Abnormal automated kinetic perimetry test", "HP:0030595": "Abnormal static automated perimetry test", "HP:0030596": "Abnormal Humphrey SITA 30-2 perimetry test", "HP:0030597": "Abnormal Humphrey SITA 24-2 perimetry test", "HP:0030598": "Abnormal Humphrey SITA 10-2 perimetry test", "HP:0030599": "Abnormal Esterman grid perimetry test", "HP:0030601": "Abnormal posterior segment imaging", "HP:0030602": "Abnormal fundus autofluorescence imaging", "HP:0030603": "Abnormal optical coherence tomography", "HP:0030604": "Abnormal fundus fluorescein angiography", "HP:0030605": "Abnormal indocyanine green angiography", "HP:0030606": "Abnormal OCT-measured macular thickness", "HP:0030607": "Reduced OCT-measured macular thickness", "HP:0030608": "Increased OCT-measured macular thickness", "HP:0030609": "Photoreceptor layer loss on macular OCT", "HP:0030610": "Photoreceptor outer segment loss on macular OCT", "HP:0030611": "Retinal pigment epithelial loss on macular OCT", "HP:0030612": "Abnormal retinal morphology on macular OCT", "HP:0030613": "Abnormal foveal morphology on macular OCT", "HP:0030614": "Foveal photoreceptor layer loss on macular OCT", "HP:0030615": "Foveal photoreceptor outer segment loss on macular OCT", "HP:0030616": "Foveal retinal pigment epithelial loss on macular OCT", "HP:0030617": "Abnormal OCT-measured foveal thickness", "HP:0030618": "Increased OCT-measured foveal thickness", "HP:0030619": "Reduced OCT-measured foveal thickness", "HP:0030620": "Inner retinal layer loss on macular OCT", "HP:0030621": "Foveal inner retinal layer loss on macular OCT", "HP:0030622": "Abnormal foveal pit on macular OCT", "HP:0030623": "Intraretinal hyporeflective spaces on macular OCT", "HP:0030624": "Subretinal hyporeflective spaces on macular OCT", "HP:0030625": "Hyporeflective spaces on macular OCT", "HP:0030626": "Foveal intraretinal hyporeflective spaces on macular OCT", "HP:0030627": "Foveal hyporeflective spaces on macular OCT", "HP:0030628": "Foveal subretinal hyporeflective spaces on macular OCT", "HP:0030629": "Perifoveal ring of hyperautofluorescence", "HP:0030630": "Irregular central macular autofluorescence", "HP:0030631": "Hyperautofluorescent macular lesion", "HP:0030632": "Hypoautofluorescent macular lesion", "HP:0030633": "Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence", "HP:0030634": "Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence", "HP:0030635": "Retinal dystrophy with early macular involvement", "HP:0030636": "Occult macular dystrophy", "HP:0030637": "Congenital stationary cone dysfunction", "HP:0030638": "Congenital stationary night blindness with normal fundus", "HP:0030639": "Congenital stationary night blindness with abnormal fundus", "HP:0030640": "Complete congenital stationary night blindness", "HP:0030641": "Incomplete congenital stationary night blindness", "HP:0030642": "Fundus albipunctatus", "HP:0030643": "Vitelliform-like retinal lesions", "HP:0030644": "Blind-spot enlargment", "HP:0030645": "Central", "HP:0030646": "Peripheral", "HP:0030647": "Paracentral", "HP:0030648": "Midperipheral", "HP:0030649": "Pericentral", "HP:0030650": "Focal", "HP:0030651": "Multifocal", "HP:0030652": "Vitreous haze", "HP:0030654": "Umbilical cord cyst", "HP:0030655": "Umbilical cord knot", "HP:0030656": "Umbilical vein varix", "HP:0030657": "Umbilical cord hematoma", "HP:0030658": "Marginal umbilical cord insertion", "HP:0030659": "Velamentous cord insertion", "HP:0030660": "Furcate cord insertion", "HP:0030661": "Vitreous snowballs", "HP:0030662": "Vitreous inflammatory cells", "HP:0030663": "Optically empty vitreous", "HP:0030664": "Beevor's sign", "HP:0030665": "Rubral tremor", "HP:0030666": "Retinal neovascularization", "HP:0030667": "Peripheral retinal neovascularization", "HP:0030668": "Periorbital dermoid cyst", "HP:0030669": "Abnormal ocular adnexa morphology", "HP:0030670": "Hamartoma of the orbital region", "HP:0030671": "Abnormal common tendinous ring morphology", "HP:0030672": "Asteroid hyalosis", "HP:0030673": "Erosive vitreoretinopathy", "HP:0030674": "Antenatal onset", "HP:0030675": "Contracture of proximal interphalangeal joints of 2nd-5th fingers", "HP:0030676": "Satyr ear", "HP:0030677": "Mozart ear", "HP:0030679": "Ash-leaf spot", "HP:0030680": "Abnormality of cardiovascular system morphology", "HP:0030681": "Abnormal morphology of myocardial trabeculae", "HP:0030682": "Left ventricular noncompaction", "HP:0030683": "Vaginitis", "HP:0030684": "Abnormal adiponectin level", "HP:0030685": "Decreased adiponectin level", "HP:0030686": "Increased adiponectin level", "HP:0030687": "Abnormal glucagon level", "HP:0030688": "Increased glucagon level", "HP:0030689": "Decreased glucagon level", "HP:0030690": "Gingival cleft", "HP:0030691": "Divergence nystagmus", "HP:0030692": "Brain neoplasm", "HP:0030693": "Supratentorial neoplasm", "HP:0030694": "Pineal parenchymal cell neoplasm", "HP:0030706": "Ranula", "HP:0030707": "Unilateral lung agenesis", "HP:0030708": "Myeloschisis", "HP:0030709": "Myelocystocele", "HP:0030710": "Lipomeningocele", "HP:0030711": "Hydrocolpos", "HP:0030712": "Uterine synechiae", "HP:0030713": "Vein of Galen aneurysmal malformation", "HP:0030714": "Subchorionic thrombohematoma", "HP:0030715": "Bronchial atresia", "HP:0030716": "Acrania", "HP:0030717": "Meconium peritonitis", "HP:0030718": "Right atrial enlargement", "HP:0030719": "Unguarded tricuspid valve", "HP:0030720": "Subchorionic septal cyst", "HP:0030721": "Tetraphocomelia", "HP:0030722": "Ectopic liver", "HP:0030723": "Congenital megalourethra", "HP:0030724": "Central nervous system cyst", "HP:0030725": "Neurenteric cyst", "HP:0030726": "Spinal neurenteric cyst", "HP:0030727": "Intracranial neurenteric cyst", "HP:0030728": "Meromelia", "HP:0030729": "Frontoethmoidal meningocele", "HP:0030730": "Parietal meningocele", "HP:0030731": "Carcinoma", "HP:0030732": "Dysplastic tricuspid valve", "HP:0030733": "Vesicoallantoic abdominal wall defect", "HP:0030735": "Ureterovesical junction obstruction", "HP:0030736": "Sacrococcygeal teratoma", "HP:0030737": "Altman type I sacrococcygeal teratoma", "HP:0030738": "Altman type II sacrococcygeal teratoma", "HP:0030739": "Altman type III sacrococcygeal teratoma", "HP:0030740": "Anomalous muscle bundle of the right ventricle", "HP:0030741": "Mediastinal teratoma", "HP:0030742": "Glial remnants posterior to lens", "HP:0030743": "Glial remnants anterior to the optic disc", "HP:0030744": "Hyaloid vascular remnant and retrolental mass", "HP:0030745": "Dilatation of the ductus arteriosus", "HP:0030746": "Intraventricular hemorrhage", "HP:0030747": "Preterm intraventricular hemorrhage", "HP:0030748": "Grade I preterm intraventricular hemorrhage", "HP:0030749": "Grade II preterm intraventricular hemorrhage", "HP:0030750": "Grade III preterm intraventricular hemorrhage", "HP:0030751": "Grade IV preterm intraventricular hemorrhage", "HP:0030752": "Dacryocystocele", "HP:0030753": "Intrauterine fetal demise of one twin after midgestation", "HP:0030754": "Allantoic cyst", "HP:0030755": "Craniofacial teratoma", "HP:0030756": "Erythrodontia", "HP:0030757": "Tooth abscess", "HP:0030758": "Periapical tooth abscess", "HP:0030759": "Adipocyte hypertrophy", "HP:0030760": "Renal fibrosis", "HP:0030762": "Mesangiolysis", "HP:0030763": "Amniotic Sheet", "HP:0030764": "Ochronosis", "HP:0030765": "Sleep terror", "HP:0030766": "Ear pain", "HP:0030767": "Epignathus", "HP:0030769": "Exencephaly", "HP:0030770": "Craniorachischisis", "HP:0030771": "Mallet finger", "HP:0030772": "Proximal femoral focal deficiency", "HP:0030773": "Internuclear ophthalmoplegia", "HP:0030774": "Mitochondrial swelling", "HP:0030775": "Modic type vertebral endplate changes", "HP:0030776": "Modic type I vertebral endplate changes", "HP:0030777": "Modic type II vertebral endplate changes", "HP:0030778": "Modic type III vertebral endplate changes", "HP:0030779": "Ethmocephaly", "HP:0030780": "Abnormality of the protein C anticoagulant pathway", "HP:0030781": "Increased circulating free fatty acid level", "HP:0030782": "Abnormal circulating interleukin concentration", "HP:0030783": "Increased circulating interleukin 6 concentration", "HP:0030784": "Anomic aphasia", "HP:0030785": "Mediastinal cystic lymphangioma", "HP:0030786": "Photopsia", "HP:0030787": "Cerumen abnormality", "HP:0030788": "Impacted cerumen", "HP:0030789": "Excessive cerumen", "HP:0030790": "Abnormal cerumen color", "HP:0030791": "Abnormal jaw morphology", "HP:0030792": "Jaw neoplasm", "HP:0030793": "Jaw swelling", "HP:0030794": "Abnormal circulating C-peptide concentration", "HP:0030795": "Reduced C-peptide level", "HP:0030796": "Increased C-peptide level", "HP:0030797": "Reduced volume of central subdivision of bed nucleus of stria terminalis", "HP:0030798": "Abnormality of the bed nucleus of stria terminalis", "HP:0030799": "Scaphocephaly", "HP:0030800": "Abnormal visual accommodation", "HP:0030801": "Reduced visual accommodation", "HP:0030802": "Lower eyelid retraction", "HP:0030803": "Platonychia", "HP:0030804": "Trachyonychia", "HP:0030805": "Absent lunula", "HP:0030806": "Fast-growing nails", "HP:0030807": "Abnormal nail growth", "HP:0030808": "Ragged cuticle", "HP:0030809": "Abnormal tongue morphology", "HP:0030810": "Abnormal tongue physiology", "HP:0030811": "Tongue pain", "HP:0030812": "Enlarged tonsils", "HP:0030813": "Absent tonsils", "HP:0030814": "Orange discolored tonsils", "HP:0030815": "Lipoma of the tongue", "HP:0030816": "Gingival recession", "HP:0030817": "Beaked nails", "HP:0030818": "Central nail canal", "HP:0030819": "Ski jump nail", "HP:0030820": "Hooded eyelid", "HP:0030821": "Hooded lower eyelid", "HP:0030822": "Hooded upper eyelid", "HP:0030823": "Scleral thickening", "HP:0030824": "Mizuo phenomenon", "HP:0030825": "Absent foveal reflex", "HP:0030826": "Eyelid fasciculation", "HP:0030828": "Wheezing", "HP:0030829": "Abnormal breath sound", "HP:0030830": "Crackles", "HP:0030831": "Rhonchi", "HP:0030832": "Vitreous strands", "HP:0030833": "Neck pain", "HP:0030834": "Shoulder pain", "HP:0030835": "Elbow pain", "HP:0030836": "Wrist pain", "HP:0030837": "Finger pain", "HP:0030838": "Hip pain", "HP:0030839": "Knee pain", "HP:0030840": "Ankle pain", "HP:0030841": "Toe pain", "HP:0030842": "Choking episodes", "HP:0030843": "Cardiac amyloidosis", "HP:0030844": "Undetectable pattern electroretinogram", "HP:0030845": "Heliotrope rash of eyelid", "HP:0030846": "Abnormality of venous physiology", "HP:0030847": "Abnormal jugular venous pressure", "HP:0030848": "Elevated jugular venous pressure", "HP:0030849": "Hepatojugular reflux", "HP:0030850": "Abnormal pulse pressure", "HP:0030851": "Low pulse pressure", "HP:0030852": "High pulse pressure", "HP:0030853": "Heterotaxy", "HP:0030854": "Scleral staphyloma", "HP:0030855": "Anterior staphyloma", "HP:0030856": "Posterior staphyloma", "HP:0030857": "Eye movement-induced pain", "HP:0030858": "Addictive behavior", "HP:0030859": "Anti-topoisomerase I antibody positivity", "HP:0030860": "Abnormal CSF amyloid concentration", "HP:0030861": "Decreased CSF amyloid concentration", "HP:0030862": "Elevated CSF amyloid concentration", "HP:0030863": "Nasal flaring", "HP:0030864": "Intercostal retractions", "HP:0030865": "Large elbow", "HP:0030866": "Large knee", "HP:0030867": "Vertical orbital dystopia", "HP:0030868": "Monorchism", "HP:0030869": "Anorchism", "HP:0030870": "Abnormality of spinal facet joint", "HP:0030871": "Facet joint arthrosis", "HP:0030872": "Abnormal cardiac ventricular function", "HP:0030873": "Anti-centromere antibody positivity", "HP:0030874": "Oxygen desaturation on exertion", "HP:0030875": "Abnormality of pulmonary circulation", "HP:0030876": "Increased pulmonary capillary wedge pressure", "HP:0030877": "Reduced FEV1/FVC ratio", "HP:0030878": "Abnormality on pulmonary function testing", "HP:0030879": "Interlobular septal thickening", "HP:0030880": "Raynaud phenomenon", "HP:0030881": "Shoulder impingement", "HP:0030882": "Coronary artery aneurysm", "HP:0030883": "Femoroacetabular impingement", "HP:0030884": "Gastrojejunal tube feeding in infancy", "HP:0030885": "Recurrent parasitic infections", "HP:0030886": "Abnormal lymphocyte apoptosis", "HP:0030887": "Increased lymphocyte apoptosis", "HP:0030888": "C3 nephritic factor positivity", "HP:0030889": "Congenital shortened small intestine", "HP:0030890": "Hyperintensity of cerebral white matter on MRI", "HP:0030891": "Periventricular white matter hyperintensities", "HP:0030892": "Deep cerebral white matter hyperintensities", "HP:0030893": "Abnormal response to short acting pulmonary vasodilator", "HP:0030894": "Insufficient response to short acting pulmonary vasodilator", "HP:0030895": "Abnormal gastrointestinal motility", "HP:0030896": "Abnormal gastrointestinal transit time", "HP:0030897": "Decreased intestinal transit time", "HP:0030898": "Pruritis on abdomen", "HP:0030899": "Pruritis on hand", "HP:0030900": "Pruritus on foot", "HP:0030901": "Pruritis on breast", "HP:0030902": "Palmomental reflex", "HP:0030903": "Grasp reflex", "HP:0030904": "Glabellar reflex", "HP:0030905": "Snout reflex", "HP:0030906": "Suck reflex", "HP:0030907": "Thunderclap headache", "HP:0030908": "Liver kidney microsome type 1 antibody positivity", "HP:0030909": "Anti-liver cytosolic antigen type 1 antibody positivity", "HP:0030911": "Bifid clitoris", "HP:0030912": "Duplicated clitoris", "HP:0030913": "Exaggerated rugosity of the labia majora", "HP:0030914": "Abnormal peristalsis", "HP:0030915": "Cerebellar edema", "HP:0030917": "Low APGAR score", "HP:0030918": "Low 1-minute APGAR score", "HP:0030919": "Low 5-minute APGAR score", "HP:0030920": "5-minute APGAR score of 0", "HP:0030921": "5-minute APGAR score of 1", "HP:0030922": "5-minute APGAR score of 2", "HP:0030923": "5-minute APGAR score of 3", "HP:0030924": "5-minute APGAR score of 4", "HP:0030925": "5-minute APGAR score of 5", "HP:0030926": "5-minute APGAR score of 6", "HP:0030927": "1-minute APGAR score of 0", "HP:0030928": "1-minute APGAR score of 1", "HP:0030929": "1-minute APGAR score of 2", "HP:0030930": "1-minute APGAR score of 3", "HP:0030931": "1-minute APGAR score of 4", "HP:0030932": "1-minute APGAR score of 5", "HP:0030933": "1-minute APGAR score of 6", "HP:0030934": "Oral erythroplakia", "HP:0030935": "Abnormality of intestinal smooth muscle morphology", "HP:0030936": "Abnormal layering of muscularis propria", "HP:0030937": "Fibrotic muscularis propria", "HP:0030938": "Enteric intraneuronal nuclear inclusion bodies", "HP:0030939": "Palpebral thickening", "HP:0030943": "Vulvodynia", "HP:0030946": "Conjunctival papillae", "HP:0030947": "Conjunctival follicles", "HP:0030948": "Elevated gamma-glutamyltransferase level", "HP:0030949": "Glomerular deposits", "HP:0030950": "Pulmonary venous hypertension", "HP:0030951": "Skeletal muscle fibrosis", "HP:0030952": "Birdshot retinochoroidopathy", "HP:0030953": "Conjunctival hyperemia", "HP:0030955": "Alcoholism", "HP:0030956": "Abnormality of cardiovascular system electrophysiology", "HP:0030957": "Ventricular septal aneurysm", "HP:0030958": "Membranous ventricular septal aneurysm", "HP:0030959": "Muscular ventricular septal aneurysm", "HP:0030961": "Microspherophakia", "HP:0030962": "Abnormal morphology of the great vessels", "HP:0030964": "Abnormal aortic physiology", "HP:0030965": "Aortic stiffness", "HP:0030966": "Abnormal pulmonary artery morphology", "HP:0030967": "Abnormal pulmonary artery physiology", "HP:0030968": "Abnormal pulmonary vein morphology", "HP:0030969": "Abnormal pulmonary vein physiology", "HP:0030970": "Abnormal vena cava physiology", "HP:0030972": "Abnormal systemic blood pressure", "HP:0030973": "Postexertional symptom exacerbation", "HP:0030974": "Cryptozoospermia", "HP:0030975": "Pontine tegmental cap", "HP:0030976": "Abnormal factor VIII activity", "HP:0030977": "Increased factor VIII activity", "HP:0030978": "Decreased CSF/serum albumin ratio", "HP:0030979": "Dilatation of large choroidal vessels", "HP:0030980": "Reduced brain glutamine level by MRS", "HP:0030981": "Abnormal CSF/serum albumin ratio", "HP:0030983": "Ovarian thecoma", "HP:0030984": "Abnormal serum bile acid concentration", "HP:0030985": "Decreased serum bile acid concentration", "HP:0030986": "Biliary epithelial hyperplasia", "HP:0030987": "Suppurative cholangitis", "HP:0030988": "Granulomatous cholangitis", "HP:0030989": "Lymphoid cholangitis", "HP:0030990": "Pleomorphic cholangitis", "HP:0030991": "Sclerosing cholangitis", "HP:0030992": "Abnormal pancreatic duct morphology", "HP:0030993": "Duplication of pancreatic duct", "HP:0030994": "Pancreas divisum", "HP:0030995": "Peritoneal effusion", "HP:0030996": "Megaduodenum", "HP:0030997": "Atretic vas deferens", "HP:0030998": "Cerebrospinal fluid rhinorrhoea", "HP:0030999": "Abnormal vestibular saccule morphology", "HP:0031000": "Vestibular saccular degeneration", "HP:0031001": "Minifascicle formation", "HP:0031002": "Neuritis", "HP:0031003": "Polyneuritis", "HP:0031004": "Hemiareflexia", "HP:0031006": "Acroparesthesia", "HP:0031007": "Orofacial action-specific dystonia induced by speech", "HP:0031008": "Lingual dystonia", "HP:0031009": "Ainhum", "HP:0031010": "Hyperphalangy of the 3rd finger", "HP:0031011": "Fatty streak", "HP:0031012": "Thin-cap fibroatheroma", "HP:0031013": "Ankylosis", "HP:0031014": "Arteria lusoria", "HP:0031015": "Intrahepatic portal vein sclerosis", "HP:0031016": "Alternating radiolucent and radiodense metaphyseal lines", "HP:0031017": "Swiss cheese atrial septal defect", "HP:0031018": "Eccrine syringofibroadenoma", "HP:0031019": "Pyknotic bone marrow neutrophils", "HP:0031020": "Bone marrow hypercellularity", "HP:0031021": "Squamous Papilloma", "HP:0031022": "Oropharyngeal squamous papilloma", "HP:0031023": "Multiple mucosal neuromas", "HP:0031024": "Cylindroma", "HP:0031025": "Gastric leiomyosarcoma", "HP:0031026": "Snail-like ilia", "HP:0031027": "Internal notch of the femoral head", "HP:0031028": "Lactescent serum", "HP:0031029": "Elevated carcinoembryonic antigen level", "HP:0031030": "Elevated carcinoma antigen 125 level", "HP:0031031": "Abnormal retinol-binding protein level", "HP:0031032": "Decreased retinol-binding protein level", "HP:0031033": "Impaired urinary acidification", "HP:0031034": "Abnormal insulin like growth factor binding protein acid labile subunit level", "HP:0031035": "Chronic infection", "HP:0031036": "Reduced growth-hormone binding protein level", "HP:0031037": "Reduced insulin-like factor 3 level", "HP:0031038": "Spermatogenesis maturation arrest", "HP:0031039": "Early spermatogenesis maturation arrest", "HP:0031040": "Late spermatogenesis maturation arrest", "HP:0031041": "Obstruction of the superior vena cava", "HP:0031042": "Strawberry tongue", "HP:0031043": "Type A4 brachydactyly", "HP:0031044": "Type A5 brachydactyly", "HP:0031045": "Acral blistering", "HP:0031046": "Absent soft palate", "HP:0031047": "Paraproteinemia", "HP:0031048": "Light-chain paraproteinemia", "HP:0031049": "Heavy-chain paraproteinemia", "HP:0031050": "Whole-immunoglobulin paraproteinemia", "HP:0031051": "Tarsal sclerosis", "HP:0031052": "Elevated vascular endothelial growth factor level", "HP:0031053": "Coarctation in the transverse aortic arch", "HP:0031054": "Long segment coarctation of the aorta", "HP:0031055": "Abnormal branching pattern of left aortic arch", "HP:0031056": "Fusiform cerebral aneurysm", "HP:0031057": "Skin fissure", "HP:0031058": "Impairment of activities of daily living", "HP:0031059": "Impaired ability to bathe oneself", "HP:0031060": "Impaired ability to dress oneself", "HP:0031061": "Impaired toileting ability", "HP:0031062": "Impaired transferring ability", "HP:0031063": "Impaired feeding ability", "HP:0031064": "Impaired continence", "HP:0031065": "Abnormal ovarian morphology", "HP:0031066": "Abnormal ovarian physiology", "HP:0031067": "Empty ovarian follicle", "HP:0031069": "Abnormal femoral torsion", "HP:0031071": "Abnormal endocrine morphology", "HP:0031072": "Abnormal endocrine physiology", "HP:0031073": "Abnormal response to endocrine stimulation test", "HP:0031074": "Abnormal response to ACTH stimulation test", "HP:0031075": "Abnormal response to insulin tolerance test", "HP:0031076": "Impaired cortisol response to insulin stimulation test", "HP:0031077": "Abnormal response to corticotropin releasing hormone stimulation test", "HP:0031078": "Impaired cortisol response to corticotropin releasing hormone stimulation test", "HP:0031079": "Impaired growth-hormone response to insulin stimulation test", "HP:0031080": "Abnormal response to glucagon stimulation test", "HP:0031081": "Impaired cortisol response to glucagon stimulation test", "HP:0031082": "Impaired growth-hormone response to glucagon stimulation test", "HP:0031083": "Abnormal response to human chorionic gonadotrophin stimulation test", "HP:0031084": "Excessive insulin response to glucagon test", "HP:0031085": "Decreased prealbumin level", "HP:0031086": "Ectopic ovary", "HP:0031087": "Absent pubertal growth spurt", "HP:0031088": "Vaginal dryness", "HP:0031089": "Palatal edema", "HP:0031090": "Finger dactylitis", "HP:0031091": "Toe dactylitis", "HP:0031092": "Spindle-shaped finger", "HP:0031093": "Abnormal breast morphology", "HP:0031094": "Abnormal breast physiology", "HP:0031095": "Abnormal humerus morphology", "HP:0031096": "Delayed vertebral ossification", "HP:0031097": "Abnormal thyroid-stimulating hormone level", "HP:0031098": "Decreased thyroid-stimulating hormone level", "HP:0031099": "Abnormal circulating inhibin level", "HP:0031100": "Decreased inhibin B level", "HP:0031101": "Abnormal circulating antimullerian hormone concentration", "HP:0031102": "Increased circulating antimullerian hormone concentration", "HP:0031103": "Decreased cirrculating antimullerian hormone circulation", "HP:0031104": "Insulin receptor antibody positivity", "HP:0031105": "Abnormal uterus morphology", "HP:0031106": "T-shaped uterus", "HP:0031107": "Decreased fibular diameter", "HP:0031108": "Triceps weakness", "HP:0031109": "Agalactia", "HP:0031110": "Twin-to-twin transfusion", "HP:0031111": "Cutaneous hamartoma", "HP:0031117": "Purely bicuspid aortic valve", "HP:0031118": "Single raphe bicuspid aortic valve", "HP:0031119": "Bicuspid aortic valve with right-left cusp fusion", "HP:0031120": "Bicuspid aortic valve with right-noncoronary cusp fusion", "HP:0031121": "Bicuspid aortic valve with left-noncoronary cusp fusion", "HP:0031122": "Two-raphe bicuspid aortic valve", "HP:0031123": "Recurrent gastroenteritis", "HP:0031124": "Decreased platelet thromboxane A2 receptor", "HP:0031125": "Decreased platelet alpha-2A-adrenergic receptor", "HP:0031126": "Impaired clot retraction", "HP:0031127": "Impaired convulxin-induced platelet aggregation", "HP:0031128": "Impaired collagen-related peptide-induced platelet aggregation", "HP:0031129": "Impaired phorbol myristate acetate-induced platelet aggregation", "HP:0031130": "Impaired calcium ionophore-induced platelet aggregation", "HP:0031131": "Abnormal platelet phosphatidylserine exposure", "HP:0031132": "Impaired annexin V binding to platelet phosphatidylserine", "HP:0031133": "Increased annexin V binding to platelet phosphatidylserine", "HP:0031134": "Cor triatrium sinister", "HP:0031135": "Triggered by physical trauma", "HP:0031136": "Decreased acrosin in sperm head", "HP:0031137": "Storage in hepatocytes", "HP:0031138": "Abnormal B-type natriuretic peptide concentration", "HP:0031139": "Frog-leg posture", "HP:0031140": "Abnormal liver sonography", "HP:0031141": "Increased hepatic echogenicity", "HP:0031142": "Abnormal hepatic echogenicity", "HP:0031143": "Decreased hepatic echogenicity", "HP:0031144": "Coarsened hepatic echotexture", "HP:0031145": "Starry sky appearance on hepatic sonography", "HP:0031146": "Impaired oral bolus formation", "HP:0031150": "Vitreomacular adhesion", "HP:0031151": "Vitreomacular traction", "HP:0031152": "Full-thickness macular hole", "HP:0031153": "Membranous vitreous appearance", "HP:0031154": "Beaded vitreous appearance", "HP:0031155": "Increased Arden ratio of electrooculogram", "HP:0031156": "Decreased platelet glycoprotein Ib", "HP:0031157": "Carotid cavernous fistula", "HP:0031158": "Widened atrophic scar", "HP:0031159": "Thinning of Descemet membrane", "HP:0031160": "Myelokathexis", "HP:0031161": "Reduced brain glutamate level by MRS", "HP:0031162": "Impaired oropharyngeal swallow response", "HP:0031163": "Low femoral bone density", "HP:0031164": "Growth arrest lines", "HP:0031165": "Multifocal seizures", "HP:0031166": "Eyelid myokymia", "HP:0031167": "Triggered by ingestion of potassium-rich food", "HP:0031169": "Postterm pregnancy", "HP:0031170": "Female fetal virilization", "HP:0031171": "Femoral spur", "HP:0031172": "Sectoral retinitis pigmentosa", "HP:0031173": "Tibial spur", "HP:0031174": "Double-layered patella", "HP:0031175": "Absent cervical vertebra", "HP:0031176": "Absent thoracic vertebra", "HP:0031177": "Finger flexor weakness", "HP:0031178": "Fixed head retroflexion", "HP:0031179": "Nuchal rigidity", "HP:0031180": "Erythema migrans", "HP:0031181": "Necrolytic migratory erythema", "HP:0031185": "Increased circulating NT-proBNP concentration", "HP:0031186": "Abnormal circulating deoxycorticosterone level", "HP:0031187": "Abnormal circulating pregnenolone concentration", "HP:0031188": "Genital edema", "HP:0031189": "Wrist drop", "HP:0031190": "Superficial dermal perivascular inflammatory infiltrate", "HP:0031191": "Deep dermal perivascular inflammatory infiltrate", "HP:0031192": "Abnormal morphology of left ventricular trabeculae", "HP:0031193": "Abnormal morphology of right ventricular trabeculae", "HP:0031194": "Increased density of left ventricular trabeculae", "HP:0031195": "Apical hypertrabeculation of the left ventricle", "HP:0031196": "Thin myocardium compact layer", "HP:0031197": "Cellular urinary casts", "HP:0031198": "Renal tubular epithelial cell casts", "HP:0031199": "Acellular urinary casts", "HP:0031200": "Hyaline casts", "HP:0031201": "Granular casts", "HP:0031202": "Waxy casts", "HP:0031203": "Fatty casts", "HP:0031204": "Bacterial cell casts", "HP:0031205": "Reduced lysosomal acid lipase activity", "HP:0031206": "Striatal T2 hyperintensity", "HP:0031207": "Hepatic hemangioma", "HP:0031208": "Increased pituitary glycoprotein hormone alpha subunit level", "HP:0031209": "Decreased circulating lipoprotein lipase concentration", "HP:0031210": "Abnormal circulating hyaluronic acid concentration", "HP:0031211": "Elevated cholesterol ester level", "HP:0031212": "Abnormal circulating progesterone level", "HP:0031213": "Elevated circulating 17-hydroxyprogesterone concentration", "HP:0031214": "Decreased circulating dehydroepiandrosterone concentration", "HP:0031215": "Decreased circulating dehydroepiandrosterone-sulfate concentration", "HP:0031216": "Increased circulating progesterone", "HP:0031217": "Hot flashes", "HP:0031218": "Inappropriate antidiuretic hormone secretion", "HP:0031219": "Reduced radioactive iodine uptake", "HP:0031220": "Increased radioactive iodine uptake", "HP:0031221": "Abnormal radioactive iodine uptake test result", "HP:0031222": "Increased circulating thyroxine-binding globulin level", "HP:0031223": "Focal pancreatic islet hyperplasia", "HP:0031224": "Diffuse pancreatic islet hyperplasia", "HP:0031225": "Intrapulmonary shunt", "HP:0031226": "Perinephric fluid collection", "HP:0031227": "Nasopharyngeal teratoma", "HP:0031228": "Abnormal incisura morphology", "HP:0031229": "Increased incisura length", "HP:0031230": "Decreased incisura length", "HP:0031231": "Narrow incisura width", "HP:0031232": "Increased incisura width", "HP:0031233": "Horizontal inferior border of scapula", "HP:0031234": "Neutrophilic infiltration of the skin", "HP:0031235": "Predominantly epidermal neutrophilic infiltrate", "HP:0031236": "Predominantly dermal neutrophilic infiltrate", "HP:0031237": "Internally nucleated skeletal muscle fibers", "HP:0031238": "Necklace skeletal muscle fibers", "HP:0031239": "Extrafoveal choroidal neovascularization", "HP:0031240": "Juxtafoveal choroidal neovascularization", "HP:0031241": "Subfoveal choroidal neovascularization", "HP:0031242": "Decreased circulating chylomicron concentration", "HP:0031243": "Decreased VLDL cholesterol concentration", "HP:0031244": "Swollen lip", "HP:0031245": "Productive cough", "HP:0031246": "Nonproductive cough", "HP:0031247": "Whooping cough", "HP:0031248": "Palmar pruritus", "HP:0031249": "Parageusia", "HP:0031250": "Lip fissure", "HP:0031251": "Abnormal subclavian artery morphology", "HP:0031252": "Dilated left subclavian artery", "HP:0031253": "Anomalous origin of left subclavian artery", "HP:0031254": "Thalamic arteriovenous malformation", "HP:0031255": "Hypothalamic arteriovenous malformation", "HP:0031256": "Optic nerve arteriovenous malformation", "HP:0031257": "Arteriovenous malformation of the maxilla", "HP:0031258": "Delirium", "HP:0031259": "Oophoritis", "HP:0031260": "Triangular tibia", "HP:0031261": "Bladder polyp", "HP:0031263": "Abnormal renal corpuscle morphology", "HP:0031264": "Abnormal Bowman capsule morphology", "HP:0031265": "Abnormal glomerular visceral epithelial cell morphology", "HP:0031266": "Podocyte foot process effacement", "HP:0031267": "Abnormal CD69 upregulation upon TCR activation", "HP:0031268": "Decreased CD69 upregulation upon TCR activation", "HP:0031269": "Abnormal CD25 upregulation upon TCR activation", "HP:0031270": "Decreased CD25 upregulation upon TCR activation", "HP:0031271": "Absent ankle pulse", "HP:0031272": "Pulmonary arterial atherosclerosis", "HP:0031273": "Shock", "HP:0031274": "Hypovolemic shock", "HP:0031275": "Distributive shock", "HP:0031276": "Obstructive shock", "HP:0031278": "Abnormal thoracic duct morphology", "HP:0031279": "Abnormal response to gonadotropin-releasing hormone stimulation test", "HP:0031280": "Increased LH response to gonadotropin-releasing hormone stimulation test", "HP:0031281": "Sialadenitis", "HP:0031282": "Malalignment of the great toenail", "HP:0031283": "Tufted hairs", "HP:0031284": "Flushing", "HP:0031285": "Abnormal perifollicular morphology", "HP:0031286": "Perifollicular erythema", "HP:0031287": "Seborrheic keratosis", "HP:0031288": "Cobblestone-like hyperkeratosis", "HP:0031289": "White papule", "HP:0031290": "Tuberous xanthoma", "HP:0031291": "Ichthyosis follicularis", "HP:0031292": "Cutaneous abscess", "HP:0031293": "Digital pitting scar", "HP:0031294": "Hypoplastic right atrium", "HP:0031295": "Left atrial enlargement", "HP:0031296": "Atrial septal hypertrophy", "HP:0031297": "Unroofed coronary sinus", "HP:0031298": "Coronary sinus enlargement", "HP:0031299": "Elevated left atrial pressure", "HP:0031300": "Abnormal circulating properdin level", "HP:0031301": "Peripheral arterial calcification", "HP:0031302": "Lower extremity peripheral arterial calcification", "HP:0031303": "Femoral arterial calcification", "HP:0031304": "Iliac arterial calcification", "HP:0031305": "Tibial arterial calcification", "HP:0031306": "Intracranial arterial calcification", "HP:0031307": "Internal carotid artery calcification", "HP:0031308": "Vertebral artery calcification", "HP:0031309": "Cerebral artery calcification", "HP:0031310": "Basilar artery calcification", "HP:0031311": "Middle cerebral artery calcification", "HP:0031313": "Abdominal aortic calcification", "HP:0031314": "Carotid artery calcification", "HP:0031315": "External carotid artery calcification", "HP:0031316": "Abnormal ventricular myocardium morphology", "HP:0031317": "Fatty replacement of ventricular myocardial tissue", "HP:0031318": "Myofiber disarray", "HP:0031319": "Cardiomyocyte hypertrophy", "HP:0031320": "Cardiomyocyte mitochondrial proliferation", "HP:0031321": "Myocardial immune cell infiltration", "HP:0031322": "Myocardial lymphocytic infiltration", "HP:0031323": "Myocardial eosinophilic infiltration", "HP:0031324": "Myocardial multinucleated giant cells", "HP:0031325": "Myocardial granulomatous infiltrates", "HP:0031326": "Monoclonal light chain cardiac amyloidosis", "HP:0031327": "Transthyretin cardiac amyloidosis", "HP:0031328": "Perivascular cardiac fibrosis", "HP:0031329": "Interstitial cardiac fibrosis", "HP:0031330": "Perivascular myocardial immune cell infiltration", "HP:0031331": "Abnormal cardiomyocyte morphology", "HP:0031332": "Cardiomyocyte degeneration", "HP:0031333": "Myocardial sarcomeric disarray", "HP:0031334": "Cardiomyocyte inclusion bodies", "HP:0031335": "Abnormal cardiomyocyte mitochondrial morphology", "HP:0031336": "Intranuclear cardiomyocyte mitochondria", "HP:0031337": "Abnormal cardiomyocyte connexin43 staining", "HP:0031338": "Abnormal cardiomyocyte plakoglobin staining", "HP:0031339": "Abnormal cardiomyocyte dystrophin staining", "HP:0031340": "Abnormal lysosomal morphology", "HP:0031341": "Gastric arteriovenous malformation", "HP:0031342": "Duodenal arteriovenous malformation", "HP:0031343": "Jejunal arteriovenous malformation", "HP:0031344": "Pelvic arteriovenous malformation", "HP:0031345": "Colonic arteriovenous malformation", "HP:0031346": "Rectal arteriovenous malformation", "HP:0031347": "Uterine arteriovenous malformation", "HP:0031348": "Dextrotransposition of the great arteries", "HP:0031349": "Levotransposition of the great arteries", "HP:0031350": "Cardiac sarcoma", "HP:0031351": "Calcified amorphous tumor of the heart", "HP:0031352": "Chest tightness", "HP:0031353": "Otitis media with effusion", "HP:0031354": "Sleep onset insomnia", "HP:0031355": "Maintenance insomnia", "HP:0031356": "Terminal insomnia", "HP:0031357": "Glomeruloid hemangioma", "HP:0031358": "Vegetative state", "HP:0031359": "Cutaneous sclerotic plaque", "HP:0031360": "Yellow skin plaque", "HP:0031361": "Zebra bodies", "HP:0031363": "Palpable purpura", "HP:0031364": "Ecchymosis", "HP:0031365": "Macular purpura", "HP:0031366": "Palate neoplasm", "HP:0031367": "Metaphyseal striations", "HP:0031368": "Intestinal perforation", "HP:0031369": "Colon perforation", "HP:0031370": "Small intestinal perforation", "HP:0031371": "Rectal perforation", "HP:0031372": "Cold paresis", "HP:0031373": "Stiff tongue", "HP:0031374": "Ankle weakness", "HP:0031375": "Refractory", "HP:0031377": "Abnormal cell proliferation", "HP:0031378": "Abnormal lymphocyte proliferation", "HP:0031379": "Abnormal T cell proliferation", "HP:0031380": "Abnormal B cell proliferation", "HP:0031381": "Decreased lymphocyte proliferation in response to mitogen", "HP:0031382": "Decreased lymphocyte proliferation in response to anti-CD3", "HP:0031383": "Abnormal lymphocyte surface marker expression", "HP:0031384": "Reduced T cell CD40 expression", "HP:0031385": "Megakaryocyte nucleus hypolobulation", "HP:0031386": "Increased micromegakaryocyte count", "HP:0031387": "Increased multinucleated megakaryocyte count", "HP:0031388": "Megakaryocyte nucleus hyperlobulation", "HP:0031389": "Abnormal MHC II surface expression", "HP:0031390": "Reduced MHC II surface expression", "HP:0031391": "Elevated MHC II surface expression", "HP:0031392": "Abnormal proportion of CD4-positive T cells", "HP:0031393": "Abnormal proportion of CD8-positive T cells", "HP:0031394": "Abnormal CD4:CD8 ratio", "HP:0031396": "Abnormal proportion of naive T cells", "HP:0031397": "Decreased proportion of naive T cells", "HP:0031398": "Increased proportion of naive T cells", "HP:0031399": "Abnormal proportion of double-negative alpha-beta regulatory T cell", "HP:0031401": "Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells", "HP:0031402": "Reduced antigen-specific T cell proliferation", "HP:0031403": "Impaired pathogen-specific CD8 cytoxicity", "HP:0031404": "Impaired antigen-specific response", "HP:0031405": "Poroma", "HP:0031406": "Abnormal cytokine signaling", "HP:0031407": "Impaired cytokine signaling", "HP:0031408": "Increased proportion of CD25+ mast cells", "HP:0031409": "Abnormal lymphocyte physiology", "HP:0031410": "Abnormal distribution of CD56 bright/dim natural killer cells", "HP:0031411": "Abnormal chromosome morphology", "HP:0031412": "Abnormal telomere morphology", "HP:0031413": "Short telomere length", "HP:0031414": "High serum calcifediol", "HP:0031415": "High serum calcitriol", "HP:0031416": "Abnormal nasal mucus secretion", "HP:0031417": "Rhinorrhea", "HP:0031418": "Increased body mass index", "HP:0031419": "Reduced sex -hormone binding protein level", "HP:0031420": "Small yellow foveal lesion with surrounding gray zone", "HP:0031421": "Small superior frontal cortex", "HP:0031422": "Abnormal cerebellar cortex morphology", "HP:0031423": "Small cerebellar cortex", "HP:0031424": "Abnormal circulating beta-C-terminal telopeptide concentration", "HP:0031425": "Increased circulating beta-C-terminal telopeptide concentration", "HP:0031426": "Decreased circulating beta-C-terminal telopeptide concentration", "HP:0031427": "Abnormal circulating osteocalcin level", "HP:0031428": "Increased circulating osteocalcin level", "HP:0031429": "Decreased circulating osteocalcin level", "HP:0031430": "Oligoclonal T cell expansion", "HP:0031431": "Persistent repetition of words or sounds", "HP:0031432": "Atypical repetitive behaviors", "HP:0031433": "Alexithymia", "HP:0031434": "Abnormal prosody", "HP:0031435": "Monotonic speech", "HP:0031436": "Singsong Intonation", "HP:0031437": "Pregnancy exposure", "HP:0031438": "Abnormal sex hormone-binding globulin level", "HP:0031439": "Abnormal angiostatin level", "HP:0031441": "Abnormal tricuspid valve annulus morphology", "HP:0031442": "Abnormal tricuspid chordae tendinae morphology", "HP:0031443": "Abnormal tricuspid valve leaflet morphology", "HP:0031444": "Dilatation of the tricuspid annulus", "HP:0031445": "Oral mucosa nodule", "HP:0031446": "Erosion of oral mucosa", "HP:0031447": "Penile freckling", "HP:0031448": "Herpetiform vesicles", "HP:0031449": "Perineal hemangioma", "HP:0031450": "Polycyclic", "HP:0031451": "Lower extremity subcutanous fat hypertrophy", "HP:0031452": "Lichenoid skin lesion", "HP:0031453": "Oral lichenoid lesion", "HP:0031454": "Apocrine hidrocystoma", "HP:0031455": "Presacral ganglioneuroma", "HP:0031456": "Ectopic pregnancy", "HP:0031457": "Pulmonary opacity", "HP:0031458": "Adenoiditis", "HP:0031459": "Soft tissue neoplasm", "HP:0031460": "Benign muscle neoplasm", "HP:0031461": "Intramuscular Myxoma", "HP:0031462": "Musculotendinous retraction", "HP:0031463": "Esophageal squamous papilloma", "HP:0031464": "Genital blistering", "HP:0031465": "Abnormal vasa vasorum morphology", "HP:0031466": "Impairment in personality functioning", "HP:0031467": "Negative affectivity", "HP:0031468": "Separation insecurity", "HP:0031469": "Low self esteem", "HP:0031472": "Risk taking", "HP:0031473": "Hostility", "HP:0031474": "Pulmonary chondroma", "HP:0031475": "Status epilepticus without prominent motor symptoms", "HP:0031476": "Abnormal buccal mucosa cell morphology", "HP:0031478": "Abnormal mitral valve annulus morphology", "HP:0031479": "Dilatation of the mitral annulus", "HP:0031480": "Abnormal mitral valve leaflet morphology", "HP:0031481": "Abnormal mitral valve physiology", "HP:0031482": "Abnormal regional left ventricular contraction", "HP:0031483": "Reduced contraction of the left ventricular apex", "HP:0031484": "Cold-induced hemolysis", "HP:0031485": "Subperiosteal bone formation", "HP:0031486": "Vascular malformation of the lip", "HP:0031487": "Capillary malformation of the lip", "HP:0031488": "Arteriovenous malformation of the lip", "HP:0031489": "Venous malformation of the lip", "HP:0031490": "Hemangioma of the lip", "HP:0031491": "Continuous spike and waves during slow sleep", "HP:0031492": "Epithelial neoplasm", "HP:0031493": "Glandular cell neoplasm", "HP:0031494": "Ovarian mucinous tumor", "HP:0031495": "Mucinous neoplasm", "HP:0031496": "Mucinous cystic neoplasm of the pancreas", "HP:0031497": "Mucinous colorectal carcinoma", "HP:0031498": "Mucinous gastric carcinoma", "HP:0031499": "Appendiceal mucinous neoplasm", "HP:0031500": "Abdominal mass", "HP:0031501": "Pelvic mass", "HP:0031502": "Trophoblastic tumor", "HP:0031503": "Night gasping", "HP:0031504": "Foamy urine", "HP:0031505": "Abnormal circulating T4 concentration", "HP:0031506": "Increased circulating T4 concentration", "HP:0031507": "Decreased circulating T4 concentration", "HP:0031508": "Abnormal circulating thyroid hormone concentration", "HP:0031509": "Dry nipple", "HP:0031510": "Linear earlobe crease", "HP:0031511": "Diagonal earlobe crease", "HP:0031512": "Abnormal cutaneous collagen fibril morphology", "HP:0031513": "Luse bodies", "HP:0031514": "Increased proportion of exhausted T cells", "HP:0031515": "Abnormal meiosis", "HP:0031516": "Oocyte arrest at metaphase I", "HP:0031517": "Verruciform xanthoma", "HP:0031518": "Absent posterior alpha rhythm", "HP:0031519": "Cauliflower deformity of dermal collagen fibrils", "HP:0031520": "Groin pain", "HP:0031521": "Vaginal clear cell adenocarcinoma", "HP:0031522": "Cervical clear cell adenocarcinoma", "HP:0031523": "Salivary gland oncocytoma", "HP:0031524": "Ampulla of Vater carcinoma", "HP:0031525": "Keratoacanthoma", "HP:0031526": "Subretinal fluid", "HP:0031527": "Intraretinal fluid", "HP:0031528": "Subretinal deposits", "HP:0031529": "Focal subretinal deposits", "HP:0031530": "Multifocal subretinal deposits", "HP:0031531": "Sub-RPE deposits", "HP:0031532": "Focal sub-RPE deposits", "HP:0031533": "Multifocal sub-RPE deposits", "HP:0031534": "Passive dorsiflexion of the 5th finger more than 90 degrees", "HP:0031535": "Increased theta frequency activity in EEG", "HP:0031536": "Separate origin of the left anterior descending and left circumflex artery", "HP:0031537": "Anomalous origin of the left circumflex artery from the right coronary artery", "HP:0031538": "Abnormal dermoepidermal junction morphology", "HP:0031539": "Linear IgA deposits along the epidermal basement membrane zone", "HP:0031540": "Linear IgG deposits along the epidermal basement membrane zone", "HP:0031541": "Linear C3 deposits along the epidermal basement membrane zone", "HP:0031542": "Myelin-like whorls in vacuolated fibers", "HP:0031544": "Elevated circulating palmitoleylcarnitine concentration", "HP:0031545": "Abnormally low T cell receptor excision circle level", "HP:0031546": "Cardiac conduction abnormality", "HP:0031547": "Abnormal QT interval", "HP:0031548": "Follicular infundibulum tumor", "HP:0031549": "Lymphocytoma cutis", "HP:0031550": "Abnormal flow cytometry test result", "HP:0031551": "Reduced cell surface marker level", "HP:0031552": "Reduced fibroblast surface marker level", "HP:0031553": "Reduced granulocyte surface marker level", "HP:0031554": "Reduced granulocyte CD55 level", "HP:0031555": "Reduced granulocyte CD59 level", "HP:0031556": "Reduced granulocyte CD16 level", "HP:0031557": "Reduced fibroblast CD55 level", "HP:0031558": "Reduced fibroblast CD59 level", "HP:0031559": "Reduced fibroblast CD16 level", "HP:0031560": "Coronary cameral fistula", "HP:0031561": "Coronary cameral fistula to right ventricle", "HP:0031562": "Balanced double aortic arch", "HP:0031563": "Coronary arteriovenous fistula", "HP:0031564": "Bronchial isomerism", "HP:0031565": "Abdominal situs ambiguus", "HP:0031566": "Abnormal pulmonary valve cusp morphology", "HP:0031567": "Abnormal aortic valve cusp morphology", "HP:0031568": "Thickened aortic valve cusp", "HP:0031569": "Absent aortic valve cusps", "HP:0031570": "Tessier number 0 facial cleft", "HP:0031571": "Paramedian facial cleft", "HP:0031572": "Tessier number 1 facial cleft", "HP:0031573": "Tessier number 2 facial cleft", "HP:0031574": "Orbital cleft", "HP:0031575": "Tessier number 3 facial cleft", "HP:0031576": "Tessier number 4 facial cleft", "HP:0031577": "Tessier number 5 facial cleft", "HP:0031578": "Tessier number 6 facial cleft", "HP:0031579": "Tessier number 7 facial cleft", "HP:0031580": "Tessier number 8 facial cleft", "HP:0031581": "Tessier number 9 facial cleft", "HP:0031582": "Tessier number 10 facial cleft", "HP:0031583": "Tessier number 11 facial cleft", "HP:0031584": "Tessier number 12 facial cleft", "HP:0031585": "Tessier number 13 facial cleft", "HP:0031586": "Tessier number 14 facial cleft", "HP:0031587": "Tessier number 30 facial cleft", "HP:0031588": "Unhappy demeanor", "HP:0031589": "Suicidal ideation", "HP:0031590": "Asthenopia", "HP:0031591": "Enlarged Eustachian valve", "HP:0031592": "Situs inversus with levocardia", "HP:0031593": "Abnormal PR interval", "HP:0031594": "PR segment depression", "HP:0031595": "Abnormal P wave", "HP:0031596": "Abnormal PR segment", "HP:0031597": "PR segment elevation", "HP:0031598": "Notched P wave", "HP:0031599": "P mitrale", "HP:0031600": "P wave inversion", "HP:0031601": "P pulmonale", "HP:0031602": "Abnormal mucociliary clearance", "HP:0031603": "Impaired nasal mucociliary clearance", "HP:0031604": "Agenesis of the carotid canal", "HP:0031605": "Abnormality of fundus pigmentation", "HP:0031606": "Retinal cotton wool spot", "HP:0031607": "Pelvic organ prolapse", "HP:0031609": "Geographic atrophy", "HP:0031610": "Recurrent shoulder dislocation", "HP:0031611": "Sub-inner limiting membrane hemorrhage", "HP:0031613": "Inferior chorioretinal coloboma", "HP:0031614": "Inferior retinal coloboma", "HP:0031615": "Hypopyon", "HP:0031616": "Anterior chamber flare", "HP:0031618": "Anterior chamber flare grade 1+", "HP:0031619": "Anterior chamber flare grade 2+", "HP:0031620": "Anterior chamber flare grade 3+", "HP:0031621": "Anterior chamber flare grade 4+", "HP:0031622": "Brown anomaly", "HP:0031623": "Brow ptosis", "HP:0031624": "Moderate myopia", "HP:0031625": "Pseudoaneurysm", "HP:0031626": "Coronary ostial atresia", "HP:0031627": "Globus pallidus calcification", "HP:0031628": "Aborted sudden cardiac death", "HP:0031629": "Impaired tandem gait", "HP:0031630": "Abnormal subpleural morphology", "HP:0031631": "Subpleural honeycombing", "HP:0031632": "Anomalous origin of the right subclavian artery from the descending aorta", "HP:0031633": "Isolation of the left subclavian artery", "HP:0031634": "Anomalous origin of the left common carotid artery from the main pulmonary artery", "HP:0031635": "Anomalous origin of the left common carotid artery from the brachiocephalic artery", "HP:0031636": "Anomalous origin of the right common carotid artery from the aorta", "HP:0031637": "Right coronary artery ostial atresia", "HP:0031638": "Anomalous origin of the left anterior descending artery from the pulmonary artery", "HP:0031639": "Absent left main coronary artery", "HP:0031640": "Abnormal radial artery morphology", "HP:0031643": "Fusiform ascending tubular aorta aneurysm", "HP:0031644": "Fusiform abdominal aortic aneurysm", "HP:0031645": "Saccular abdominal aortic aneurysm", "HP:0031646": "Fusiform aortic arch aneurysm", "HP:0031647": "Saccular aortic arch aneurysm", "HP:0031648": "Penetrating aortic ulcer", "HP:0031649": "Aortic rupture", "HP:0031650": "Abnormal atrioventricular valve physiology", "HP:0031651": "Abnormal tricuspid valve physiology", "HP:0031652": "Abnormal aortic valve physiology", "HP:0031653": "Abnormal heart valve physiology", "HP:0031654": "Abnormal pulmonary valve physiology", "HP:0031655": "Quadricuspid aortic valve", "HP:0031656": "Systolic anterior motion of the mitral valve", "HP:0031657": "Abnormal heart sound", "HP:0031658": "Third heart sound", "HP:0031659": "Fourth heart sound", "HP:0031660": "Loud first heart sound", "HP:0031661": "Abnormal second heart sound", "HP:0031662": "Fixed splitting of the second heart sound", "HP:0031663": "Paradoxical splitting of the second heart sound", "HP:0031664": "Systolic heart murmur", "HP:0031665": "Midsystolic murmur", "HP:0031666": "Late systolic murmur", "HP:0031667": "Holosystolic murmur", "HP:0031668": "Diastolic heart murmur", "HP:0031669": "Middiastolic murmur", "HP:0031670": "Continuous heart murmur", "HP:0031671": "Typical atrial flutter", "HP:0031672": "Reverse typical atrial flutter", "HP:0031673": "Orthodromic atrioventricular reentrant tachycardia", "HP:0031674": "Antidromic atrioventricular reentrant tachycardia", "HP:0031675": "Fascicular left ventricular tachycardia", "HP:0031676": "Monomorphic ventricular tachycardia", "HP:0031677": "Polymorphic ventricular tachycardia", "HP:0031678": "Atherosclerotic lesion", "HP:0031679": "Type I atherosclerotic lesion", "HP:0031680": "Type II atherosclerotic lesion", "HP:0031681": "Type III atherosclerotic lesion", "HP:0031682": "Type V atherosclerotic lesion", "HP:0031683": "Type VI atherosclerotic lesion", "HP:0031684": "Renal artery atherosclerosis", "HP:0031685": "Abnormal stool composition", "HP:0031686": "Increased stool alpha1-antitrypsin concentration", "HP:0031687": "Abnormally loud pulmonic component of the second heart sound", "HP:0031688": "Erythroid dysplasia", "HP:0031689": "Megakaryocyte dysplasia", "HP:0031690": "Opportunistic infection", "HP:0031691": "Severe viral infection", "HP:0031692": "Severe cytomegalovirus infection", "HP:0031693": "Severe Epstein Barr virus infection", "HP:0031694": "Severe adenovirus infection", "HP:0031695": "Severe parainfluenza infection", "HP:0031696": "Disseminated viral infection", "HP:0031697": "Disseminated infection with live vaccine virus", "HP:0031699": "Disseminated cryptosporidium infection", "HP:0031700": "Invasive parasitic infection", "HP:0031701": "Anterior chamber inflammatory cells", "HP:0031702": "Anterior chamber red blood cells", "HP:0031703": "Abnormal ear morphology", "HP:0031704": "Abnormal ear physiology", "HP:0031705": "Compensatory head posture", "HP:0031706": "Compensatory chin depression", "HP:0031707": "Compensatory face turn to the right", "HP:0031708": "Compensatory face turn to the left", "HP:0031709": "Compensatory head tilt to the right shoulder", "HP:0031710": "Compensatory head tilt to the left shoulder", "HP:0031711": "Asymmetric abdominal aortic aneurysm", "HP:0031713": "Constant exotropia", "HP:0031714": "Distance exotropia", "HP:0031715": "Near exotropia", "HP:0031716": "Cyclic exotropia", "HP:0031717": "Alternating exotropia", "HP:0031718": "Consecutive exotropia", "HP:0031719": "True distance exotropia", "HP:0031720": "Simulated distance exotropia", "HP:0031721": "Sensory exotropia", "HP:0031722": "Near esotropia", "HP:0031723": "Secondary esotropia", "HP:0031724": "Microtropia", "HP:0031725": "Hypophoria", "HP:0031726": "Incyclotropia", "HP:0031727": "Excyclotropia", "HP:0031728": "Mild hypermetropia", "HP:0031729": "Moderate hypermetropia", "HP:0031730": "Axial myopia", "HP:0031731": "Increased tear production", "HP:0031732": "Increased basal tear production", "HP:0031733": "Reflex tearing", "HP:0031734": "Lacrimal pump failure", "HP:0031736": "Involutional entropion", "HP:0031737": "Cicatricial entropion", "HP:0031738": "Mechanical entropion", "HP:0031739": "Abnormal oblique muscle physiology", "HP:0031740": "Abnormal horizontal rectus muscle physiology", "HP:0031741": "Inferior oblique muscle underaction", "HP:0031742": "Inferior rectus muscle underaction", "HP:0031743": "Inferior rectus muscle overaction", "HP:0031744": "Superior rectus muscle weakness", "HP:0031745": "Superior rectus muscle overaction", "HP:0031746": "Superior rectus muscle restriction", "HP:0031747": "Superior rectus muscle underaction", "HP:0031748": "Abnormal vertical rectus muscle physiology", "HP:0031749": "Abnormal lateral rectus muscle physiology", "HP:0031750": "Lateral rectus muscle weakness", "HP:0031751": "Lateral rectus muscle underaction", "HP:0031752": "Lateral rectus muscle overaction", "HP:0031753": "Medial rectus muscle weakness", "HP:0031754": "Medial rectus muscle overaction", "HP:0031755": "Abnormal rectus muscle physiology", "HP:0031756": "Medial rectus muscle underaction", "HP:0031757": "Medial rectus muscle restriction", "HP:0031758": "Lateral rectus muscle restriction", "HP:0031759": "Basic constant esotropia", "HP:0031760": "Non-accomodative esotropia", "HP:0031761": "Infantile constant esotropia", "HP:0031762": "Distance esotropia", "HP:0031763": "Cyclic esotropia", "HP:0031764": "Fully accomodative esotropia", "HP:0031765": "Partially accomodative esotropia", "HP:0031766": "Convergence excess esotropia", "HP:0031767": "Consecutive esotropia", "HP:0031768": "Parafoveal fixation", "HP:0031769": "Peripheral fixation", "HP:0031770": "Epicanthus palpebralis", "HP:0031771": "Epicanthus tarsalis", "HP:0031772": "Abnormal posterior circulating artery morphology", "HP:0031773": "Posterior communicating artery aneurysm", "HP:0031774": "Posterior communicating artery infundibulum", "HP:0031775": "Neurogenic strabismus", "HP:0031776": "Cyclotropia", "HP:0031777": "Cyclophoria", "HP:0031778": "Incyclophoria", "HP:0031779": "Excyclophoria", "HP:0031780": "Eosinophilic ascites", "HP:0031781": "Microtropia with identity", "HP:0031782": "Microtropia without identity", "HP:0031783": "Absent coronary sinus", "HP:0031784": "Abnormal ascending aorta morphology", "HP:0031785": "Abnormal eyelid movement", "HP:0031786": "Cogan lid twitch", "HP:0031787": "Oblique astigmatism", "HP:0031788": "With the rule astigmatism", "HP:0031789": "Against the rule astigmatism", "HP:0031790": "Mixed astigmatism", "HP:0031791": "Lenticular astigmatism", "HP:0031792": "Irregular astigmatism", "HP:0031793": "Increased serum leptin", "HP:0031794": "Decreased circulating glycerol level", "HP:0031795": "Abnormal circulating glycerol level", "HP:0031796": "Recurrent", "HP:0031797": "Clinical course", "HP:0031798": "Elevated circulating apolipoprotein B concentration", "HP:0031799": "Decreased circulating apolipoprotein A-I concentration", "HP:0031800": "Elevated circulating apolipoprotein A-II concentration", "HP:0031801": "Vocal cord dysfunction", "HP:0031803": "Fundus hemorrhage", "HP:0031804": "Premacular hemorrhage", "HP:0031805": "Intraretinal hemorrhage", "HP:0031806": "Abnormal basophil count", "HP:0031807": "Increased basophil count", "HP:0031808": "Decreased basophil count", "HP:0031809": "Archibald's sign", "HP:0031810": "Anti-ganglioside antibody positivity", "HP:0031811": "Bilirubinuria", "HP:0031812": "Nitrituria", "HP:0031813": "Colonic eosinophilia", "HP:0031814": "Palilalia", "HP:0031815": "Abnormal oral physiology", "HP:0031816": "Abnormal oral morphology", "HP:0031817": "Decreased circulating parathyroid hormone level", "HP:0031818": "Abnormal waist to hip ratio", "HP:0031819": "Increased waist to hip ratio", "HP:0031820": "Decreased waist to hip ratio", "HP:0031821": "Abnormal hypoxanthine-guanine phosphoribosyltransferase level", "HP:0031822": "Elevated hypoxanthine-guanine phosphoribosyltransferase level", "HP:0031823": "Reduced hypoxanthine-guanine phosphoribosyltransferase level", "HP:0031824": "Hepatic mastocytosis", "HP:0031825": "Freezing of gait", "HP:0031826": "Abnormal reflex", "HP:0031827": "Absent abdominal reflex", "HP:0031828": "Abnormal superficial reflex", "HP:0031829": "Absent cremaster reflex", "HP:0031830": "Pinguecula", "HP:0031831": "Decreased serum zinc", "HP:0031832": "Hypermetric downward saccades", "HP:0031833": "Hypometric upward saccades", "HP:0031834": "Aortopulmonary collateral arteries", "HP:0031835": "Abnormal superoxide dismutase level", "HP:0031836": "Increased superoxide dismutase level", "HP:0031837": "Decreased superoxide dismutase level", "HP:0031838": "Presence of xenobiotic", "HP:0031840": "Urine xenobiotic", "HP:0031841": "Positive urine methadone test", "HP:0031842": "Lymphangiectasis", "HP:0031843": "Bradyphrenia", "HP:0031844": "Euphoria", "HP:0031845": "Abnormal libido", "HP:0031846": "Femur fracture", "HP:0031847": "Difficulty walking backward", "HP:0031848": "Cock-walk gait", "HP:0031849": "Sleep-wake inversion", "HP:0031850": "Abnormal hematocrit", "HP:0031851": "Reduced hematocrit", "HP:0031853": "Isomerism", "HP:0031854": "Left Isomerism", "HP:0031855": "Right isomerism", "HP:0031856": "Hobby horse gait", "HP:0031857": "Ineffective esophageal peristalsis", "HP:0031858": "Esophageal furrows", "HP:0031860": "Abnormal heart rate variability", "HP:0031861": "Decreased heart rate variability", "HP:0031862": "Increased heart rate variability", "HP:0031863": "Bloodstream infectious agent", "HP:0031864": "Bacteremia", "HP:0031865": "Abnormal liver physiology", "HP:0031866": "Clasp-knife sign", "HP:0031867": "Neck hypertonia", "HP:0031868": "Optic ataxia", "HP:0031869": "Recurrent joint dislocation", "HP:0031870": "Phosphohydroxylysinuria", "HP:0031871": "Abnormal Langerhans cell morphology", "HP:0031872": "Absent Birbeck granules in Langerhans cells", "HP:0031873": "Early chronotype", "HP:0031874": "Late chronotype", "HP:0031875": "Abnormal circulating hepcidin concentration", "HP:0031876": "Decreased circulating hepcidin concentration", "HP:0031877": "Elevated circulating hepcidin concentration", "HP:0031878": "Acromicria", "HP:0031879": "Abnormal eyelid physiology", "HP:0031880": "Eyelid laxity", "HP:0031881": "Decreased tear drainage", "HP:0031882": "Agyria", "HP:0031883": "Increased proinsulin:insulin ratio", "HP:0031884": "Abnormal CSF glucose concentration", "HP:0031885": "Hyperglycorrhachia", "HP:0031886": "Abnormal LDL cholesterol concentration", "HP:0031887": "Abnormal chylomicron concentration", "HP:0031888": "Abnormal HDL cholesterol concentration", "HP:0031889": "Abnormal VLDL cholesterol concentration", "HP:0031890": "Increased urine urobilinogen", "HP:0031891": "Decreased eosinophil count", "HP:0031898": "Rouleaux formation", "HP:0031899": "Abnormal coagulation factor V activity", "HP:0031901": "Elevated total serum tryptase", "HP:0031903": "Abnormal circulating selenium concentration", "HP:0031904": "Abnormal total hemolytic complement activity", "HP:0031905": "Increased total hemolytic complement activity", "HP:0031906": "Decreased total hemolytic complement activity", "HP:0031907": "Anti-mitochondrial M2 antibody positivity", "HP:0031908": "Micrographia", "HP:0031909": "Unicornuate uterus", "HP:0031910": "Abnormal cranial nerve physiology", "HP:0031911": "Abnormal fifth cranial nerve physiology", "HP:0031912": "Trigeminal anesthesia", "HP:0031913": "Rhombencephalosynapsis", "HP:0031914": "Fluctuating", "HP:0031915": "Stable", "HP:0031917": "Digital ulcer", "HP:0031918": "Ovarian sex cord-stromal tumor", "HP:0031919": "Juvenile type ovarian granulosa cell tumor", "HP:0031920": "Malignant ovarian granulosa cell tumor", "HP:0031921": "Gastrocnemius myalgia", "HP:0031922": "Renal artery duplication", "HP:0031923": "Hematocolpos", "HP:0031924": "Rope sign", "HP:0031925": "Rosette", "HP:0031926": "Homer Wright rosette", "HP:0031927": "Flexner-Wintersteiner rosette", "HP:0031928": "True ependymal rosette", "HP:0031929": "Perivascular pseudorosette", "HP:0031930": "Neurocytic rosette", "HP:0031931": "Ocular flutter", "HP:0031932": "Aorto-left ventricular tunnel", "HP:0031933": "Aorto-right ventricular tunnel", "HP:0031934": "Abnormal descending aorta morphology", "HP:0031935": "Ascending aorta hypoplasia", "HP:0031936": "Delayed ability to walk", "HP:0031937": "Tachylalia", "HP:0031938": "Abnormal conus terminalis morphology", "HP:0031939": "Conus terminalis arteriovenous malformation", "HP:0031941": "Abnormal portal venous system morphology", "HP:0031942": "Congenital absence of portal vein", "HP:0031943": "Akathisia", "HP:0031944": "Pleural thickening", "HP:0031945": "Elevated circulating N,N-dimethylglycine concentration", "HP:0031946": "Elevated urinary N,N-dimethylglycine level", "HP:0031947": "Tongue tremor", "HP:0031948": "Snowball lesion of corpus callosum", "HP:0031949": "Recurrent bacterial upper respiratory tract infections", "HP:0031950": "Usual interstitial pneumonia", "HP:0031951": "Nocturnal seizures", "HP:0031952": "Neurogenic claudication", "HP:0031953": "Cautious gait", "HP:0031954": "Dystonic gait", "HP:0031955": "Antalgic gait", "HP:0031956": "Elevated circulating aspartate aminotransferase concentration", "HP:0031957": "Spastic hemiparetic gait", "HP:0031958": "Spastic paraparetic gait", "HP:0031959": "Leg dystonia", "HP:0031960": "Arm dystonia", "HP:0031961": "Abnormal serum anion gap", "HP:0031962": "Elevated serum anion gap", "HP:0031963": "Decreased serum anion gap", "HP:0031964": "Elevated circulating alanine aminotransferase concentration", "HP:0031965": "Increased RBC distribution width", "HP:0031967": "Cloudy urine", "HP:0031969": "Reduced blood urea nitrogen", "HP:0031970": "Abnormal blood urea nitrogen concentration", "HP:0031971": "Subaortic ventricular septal bulge", "HP:0031972": "Presyncope", "HP:0031973": "Increased vertical cup-to-disc ratio", "HP:0031974": "Increased vertical cup-to-disc ratio - 0.6", "HP:0031975": "Increased vertical cup-to-disc ratio - 0.7", "HP:0031976": "Increased vertical cup-to-disc ratio - 0.8", "HP:0031977": "Increased vertical cup-to-disc ratio - 0.9", "HP:0031978": "Increased vertical cup-to-disc ratio - 1.0", "HP:0031979": "Abnormal urine carbohydrate level", "HP:0031980": "Abnormal urine carboxylic acid level", "HP:0031981": "Elevated urine glycolate", "HP:0031982": "Abnormal putamen morphology", "HP:0031983": "Abnormal pulmonary thoracic imaging finding", "HP:0031984": "Esophageal food impaction", "HP:0031985": "Esophageal exudate", "HP:0031986": "Polyminimyoclonus", "HP:0031987": "Diminished ability to concentrate", "HP:0031989": "Perioral spasm", "HP:0031990": "Chvostek sign", "HP:0031991": "Increased urinary excretion of galactosyl hydroxylysine", "HP:0031992": "Apical hypertrophic cardiomyopathy", "HP:0031993": "Hoffmann sign", "HP:0031994": "Bronchial breath sound", "HP:0031995": "Squawks", "HP:0031996": "Inspiratory crackles", "HP:0031997": "Early inspiratory crackles", "HP:0031998": "Late inspiratory crackles", "HP:0031999": "Expiratory crackles", "HP:0032000": "Pleural rub", "HP:0032001": "Pink urine", "HP:0032002": "Orange urine", "HP:0032003": "Green urine", "HP:0032004": "Pruritus vulvae", "HP:0032005": "Hemidystonia", "HP:0032006": "Lip tremor", "HP:0032007": "Maceration", "HP:0032008": "Pulmonary fat embolism", "HP:0032009": "Infantile constant exotropia", "HP:0032010": "Basic constant exotropia", "HP:0032011": "Heterophoria", "HP:0032012": "Heterotropia", "HP:0032013": "Hypermetric horizontal saccades", "HP:0032014": "Dysmetric vertical saccades", "HP:0032015": "Dysmetric horizontal saccades", "HP:0032016": "Abnormal sputum", "HP:0032017": "Sputum eosinophilia", "HP:0032018": "Multiple mononeuropathy", "HP:0032019": "Muscle eosinophilia", "HP:0032020": "Eosinophilic bladder infiltration", "HP:0032021": "Eosinophilic liver infiltration", "HP:0032022": "Eosinophilic dermal infiltration", "HP:0032023": "Eosinophilic gallbladder infiltration", "HP:0032024": "Ileal ulcer", "HP:0032025": "Reduced serum alpha-1-antitrypsin", "HP:0032026": "Anetoderma", "HP:0032027": "Retinal dots", "HP:0032028": "Macular dots", "HP:0032029": "Floppy eyelid", "HP:0032030": "Lateral canthal tendon laxity", "HP:0032031": "Medial canthal tendon laxity", "HP:0032032": "Horizontal eyelid laxity", "HP:0032033": "Vertical eyelid laxity", "HP:0032034": "Upper eyelid laxity", "HP:0032035": "Lower eyelid laxity", "HP:0032036": "Reduced contrast sensitivity", "HP:0032037": "Mildly reduced visual acuity", "HP:0032039": "Abnormality of the ocular adnexa", "HP:0032040": "Abnormal ocular adnexa physiology", "HP:0032041": "Vocal cord polyp", "HP:0032043": "Odynophagia", "HP:0032044": "Decreased vigilance", "HP:0032045": "Hypoplastic carotid canal", "HP:0032046": "Focal cortical dysplasia", "HP:0032047": "Focal cortical dysplasia type I", "HP:0032048": "Focal cortical dysplasia type Ia", "HP:0032049": "Focal cortical dysplasia type Ib", "HP:0032050": "Focal cortical dysplasia type Ic", "HP:0032051": "Focal cortical dysplasia type II", "HP:0032052": "Focal cortical dysplasia type IIa", "HP:0032053": "Focal cortical dysplasia type IIb", "HP:0032054": "Focal cortical dysplasia type III", "HP:0032055": "Focal cortical dysplasia type IIIa", "HP:0032056": "Focal cortical dysplasia type IIIb", "HP:0032057": "Focal cortical dysplasia type IIIc", "HP:0032058": "Focal cortical dysplasia type IIId", "HP:0032059": "Mild malformation of cortical development", "HP:0032060": "Epithelioid hemangioma", "HP:0032061": "Hypereosinophilia", "HP:0032062": "Mallory-Weiss tear", "HP:0032063": "Ankle joint effusion", "HP:0032064": "Gastrointestinal eosinophilia", "HP:0032065": "Abnormal serum bicarbonate concentration", "HP:0032066": "Decreased serum bicarbonate concentration", "HP:0032067": "Elevated serum bicarbonate concentration", "HP:0032068": "Increased urinary mucus", "HP:0032069": "Anti-thyroglobulin antibody positivity", "HP:0032070": "Leptomeningeal enhancement", "HP:0032071": "Eosinophilic pneumonia", "HP:0032072": "Popliteal synovial cyst", "HP:0032073": "Aplasia of the fallopian tube", "HP:0032075": "Splenopancreatic fusion", "HP:0032076": "Abnormal male urethral meatus morphology", "HP:0032077": "Male urethral meatus stenosis", "HP:0032078": "Angel-shaped phalanx", "HP:0032079": "Medial degeneration", "HP:0032081": "Intralamellar mucoid extracellular matrix accumulation", "HP:0032082": "Translamellar mucoid extracellular matrix accumulation", "HP:0032083": "Aortic elastic fiber fragmentation", "HP:0032084": "Aortic elastic fiber thinning", "HP:0032085": "Aortic elastic fiber disorganization", "HP:0032086": "Aortic smooth muscle cell nuclei loss", "HP:0032087": "Aortic laminar medial collapse", "HP:0032088": "Aortic smooth muscle cell disorganization", "HP:0032089": "Aortic medial fibrosis", "HP:0032090": "Intralamellar aortic medial fibrosis", "HP:0032091": "Translamellar aortic medial fibrosis", "HP:0032092": "Left ventricular outflow tract obstruction", "HP:0032094": "Increased circulating surfactant protein level", "HP:0032096": "Abnormal manganese concentration", "HP:0032097": "Hypermanganesemia", "HP:0032098": "Hypomanganesemia", "HP:0032099": "Perioral radial furrowing", "HP:0032100": "Abnormal doll's eye reflex", "HP:0032101": "Unusual infection", "HP:0032102": "Wilson sign", "HP:0032104": "Saccadic oscillation", "HP:0032105": "Macrosaccadic oscillations", "HP:0032106": "Conjunctival icterus", "HP:0032107": "Limbal stem cell deficiency", "HP:0032108": "Mildly reduced contrast sensitivity", "HP:0032109": "Moderately reduced contrast sensitivity", "HP:0032110": "Severely reduced contrast sensitivity", "HP:0032111": "Abnormal Vistech contrast sensitivity test", "HP:0032112": "Abnormal Pelli Robson contrast sensitivity chart test", "HP:0032113": "Semidominant inheritance", "HP:0032114": "Saccadic intrusion", "HP:0032116": "Macrosquare-wave jerks", "HP:0032118": "Retinitis", "HP:0032120": "Abnormal peripheral nervous system physiology", "HP:0032121": "Froment sign", "HP:0032122": "Very low visual acuity", "HP:0032123": "Ultra-low vision", "HP:0032124": "Abnormal proportion of unswitched memory B cells", "HP:0032125": "Increased proportion of unswitched memory B cells", "HP:0032126": "Decreased proportion of unswitched memory B cells", "HP:0032127": "Abnormal plasmablast proportion", "HP:0032128": "Increased proportion of plasmablasts", "HP:0032129": "Decreased proportion of plasmablasts", "HP:0032130": "Mycobacterium abscessus abscessus infection", "HP:0032131": "Cervical dysplasia", "HP:0032132": "Decreased circulating total IgG", "HP:0032133": "Transient decreased circulating total IgG", "HP:0032134": "Chronic decreased circulating total IgG", "HP:0032135": "Decreased circulating IgG subclass level", "HP:0032136": "Decreased circulating IgG1 level", "HP:0032137": "Decreased circulating IgG3 level", "HP:0032138": "Decreased circulating IgG4 level", "HP:0032139": "Reduced isohemagglutinin level", "HP:0032140": "Decreased specific antibody response to vaccination", "HP:0032141": "Precordial pain", "HP:0032142": "Fetor hepaticus", "HP:0032143": "Burning mouth", "HP:0032144": "Coffee ground vomitus", "HP:0032145": "Sural nerve atrophy", "HP:0032146": "HbC hemoglobin", "HP:0032147": "Erythromelalgia", "HP:0032148": "Episodic pain", "HP:0032149": "Breakthrough pain", "HP:0032150": "Paroxysmal rectal pain", "HP:0032151": "Episodic eosinophilia", "HP:0032152": "Keratosis pilaris", "HP:0032153": "Joint subluxation", "HP:0032154": "Aphthous ulcer", "HP:0032155": "Abdominal cramps", "HP:0032156": "Skin detachment", "HP:0032157": "Recurrent genital herpes", "HP:0032158": "Unusual infection by anatomical site", "HP:0032159": "Fungal meningitis", "HP:0032160": "Cryptococcal meningitis", "HP:0032161": "Coccidioidal meningitis", "HP:0032162": "Unusual skin infection", "HP:0032163": "Molluscum contagiosum", "HP:0032164": "Increased blood folate concentration", "HP:0032165": "Placental mesenchymal dysplasia", "HP:0032166": "Unusual gastrointestinal infection", "HP:0032167": "Clostridium difficile enteritis", "HP:0032168": "Clostridium difficile colitis", "HP:0032169": "Severe infection", "HP:0032170": "Severe varicella zoster infection", "HP:0032171": "Bladder pain", "HP:0032172": "Air crescent sign", "HP:0032173": "Continuous diaphragm sign", "HP:0032174": "Tree-in-bud pattern", "HP:0032175": "Signet ring sign", "HP:0032176": "Apical pulmonary opacity", "HP:0032177": "Parenchymal consolidation", "HP:0032178": "Flaky paint dermatosis", "HP:0032179": "Abnormal circulating globulin concentration", "HP:0032180": "Abnormal circulating metabolite concentration", "HP:0032181": "Anomalous hepatic venous drainage into the left atrium", "HP:0032182": "Abnormal proportion of memory T cells", "HP:0032183": "Decreased proportion of memory T cells", "HP:0032184": "Increased proportion of memory T cells", "HP:0032185": "Disseminated molluscum contagiosum", "HP:0032186": "Anal neoplasm", "HP:0032187": "Anal intraepithelial neoplasia", "HP:0032188": "Cellular hypersensitivity to mitomycin C", "HP:0032189": "Cellular hypersensitivity to diepoxybutane", "HP:0032190": "Abnormal meniscus morphology", "HP:0032191": "Torn meniscus", "HP:0032192": "Hydatidiform mole", "HP:0032193": "Decreased low-density lipoprotein particle size", "HP:0032195": "Abnormal S wave", "HP:0032196": "Prominent S wave in lead I", "HP:0032197": "Deep S wave in lead V5", "HP:0032198": "Decreased prothrombin time", "HP:0032199": "Abnormal prothrombin time", "HP:0032200": "Perivascular fibrosis", "HP:0032201": "Rotator cuff tear", "HP:0032202": "Vulvar intraepithelial neoplasia", "HP:0032203": "Lymphoid nodular hyperplasia", "HP:0032204": "Chronic active Epstein-Barr virus infection", "HP:0032205": "Increased circulating galectin-3 level", "HP:0032208": "Increased urinary type 1 collagen N-terminal telopeptide level", "HP:0032209": "Abnormal circulating free T3 concentration", "HP:0032210": "Decreased circulating free T3", "HP:0032211": "Increased urinary epithelial cell count", "HP:0032212": "Increased urinary squamous epithelial cell count", "HP:0032213": "Increased urinary renal tubular epithelial cell count", "HP:0032214": "Increased urinary transitional epithelial cell count", "HP:0032215": "Disseminated cutaneous warts", "HP:0032216": "Lymphocytic infiltration of the colorectal mucosa", "HP:0032217": "Indurated nodule", "HP:0032218": "Decreased proportion of CD4-positive T cells", "HP:0032219": "Increased proportion of CD4-positive T cells", "HP:0032220": "Interface hepatitis", "HP:0032221": "Periportal emperipolesis", "HP:0032222": "Serrated intestinal polyps", "HP:0032223": "Blood group", "HP:0032224": "ABO blood group", "HP:0032225": "Perifollicular fibroma", "HP:0032226": "Abnormal sebaceous gland morphology", "HP:0032227": "Sebaceous hyperplasia", "HP:0032228": "Trichodiscoma", "HP:0032229": "Perinuclear antineutrophil antibody positivity", "HP:0032230": "Cytoplasmic antineutrophil antibody positivity", "HP:0032231": "Hypochromia", "HP:0032232": "Increased circulating creatine kinase MB isoform", "HP:0032233": "Increased circulating creatine kinase BB isoform", "HP:0032234": "Increased circulating creatine kinase MM isoform", "HP:0032235": "Anti-La/SS-B antibody positivity", "HP:0032236": "Increased circulating immature neutrophil count", "HP:0032237": "Increased circulating myelocyte count", "HP:0032238": "Increased circulating metamyelocyte count", "HP:0032239": "Increased circulating band cell count", "HP:0032240": "Elevated circulating E selectin level", "HP:0032241": "Cervical neoplasm", "HP:0032242": "Cervical intraepithelial neoplasia", "HP:0032243": "Abnormal tissue metabolite concentration", "HP:0032244": "Decreased serum thromboxane B2", "HP:0032245": "Abnormal metabolism", "HP:0032247": "Persistent CMV viremia", "HP:0032248": "Persistent viremia", "HP:0032249": "Coccidioidomycosis", "HP:0032250": "Acinetobacter infection", "HP:0032251": "Abnormal immune system morphology", "HP:0032252": "Granuloma", "HP:0032253": "Eosinophilic granuloma", "HP:0032254": "Increased circulating copper concentration", "HP:0032255": "Opportunistic fungal infection", "HP:0032256": "Histoplasmosis", "HP:0032257": "Disseminated histoplasmosis", "HP:0032258": "Pulmonary histoplasmosis", "HP:0032259": "Chronic tinea infection", "HP:0032260": "Opportunistic bacterial infection", "HP:0032261": "Nontuberculous mycobacterial pulmonary infection", "HP:0032262": "Pulmonary tuberculosis", "HP:0032263": "Increased blood pressure", "HP:0032264": "Anti-NMDA receptor antibody positivity", "HP:0032265": "CSF autoimmune antibody positivity", "HP:0032266": "CSF anti-NMDA receptor antibody positivity", "HP:0032267": "Empty delta sign", "HP:0032268": "Dural tail sign", "HP:0032269": "Lemon sign", "HP:0032270": "Optic nerve tram-track sign", "HP:0032271": "Extrapulmonary tuberculosis", "HP:0032272": "Elevated urinary N-acetylaspartic acid level", "HP:0032273": "Increased circulating N-acetylaspartic acid concentration", "HP:0032274": "Increased CSF N-acetylaspartic acid concentration", "HP:0032275": "Recurrent shingles", "HP:0032276": "Prominent subcalcaneal fat pad", "HP:0032277": "Lozenge-shaped umbilicus", "HP:0032278": "2-hydroxyglutarate aciduria", "HP:0032281": "Abnormal base excess", "HP:0032282": "Contact dermatitis", "HP:0032283": "Disseminated nontuberculous mycobacterial infection", "HP:0032284": "Ultra-low vision with retained motion projection", "HP:0032285": "Ultra-low vision with retained light projection", "HP:0032286": "Ultra-low vision with retained light perception", "HP:0032287": "Ultra-low vision with no light perception", "HP:0032288": "Polyclonal elevation of circulating IgG", "HP:0032289": "Oligoclonal elevation of circulating IgG", "HP:0032290": "Monoclonal elevation of IgG", "HP:0032291": "Monoclonal elevation of intact IgG", "HP:0032292": "Monoclonal elevation of IgG light chain", "HP:0032293": "Monoclonal elevation of IgG heavy chain", "HP:0032294": "Monoclonal elevation of IgG kappa chain", "HP:0032295": "Monoclonal elevation of IgG lambda chain", "HP:0032296": "Increased circulating IgG subclass", "HP:0032297": "Increased circulating IgG3 level", "HP:0032298": "Increased circulating IgG1 level", "HP:0032299": "Increased circulating IgG2 level", "HP:0032300": "Increased circulating IgG4 level", "HP:0032301": "Genital warts", "HP:0032302": "Kappa Bence Jones proteinuria", "HP:0032303": "Lambda Bence Jones proteinuria", "HP:0032304": "Abnormal circulating mannose-binding protein concentration", "HP:0032305": "Decreased circulating mannose-binding protein concentration", "HP:0032306": "Increased circulating mannose-binding protein concentration", "HP:0032308": "Increased circulating procalcitonin concentration", "HP:0032309": "Abnormal granulocyte count", "HP:0032310": "Granulocytosis", "HP:0032311": "Increased circulating globulin level", "HP:0032312": "Decreased circulating globulin level", "HP:0032313": "Frontotemporal hypertrichosis", "HP:0032314": "Abnormal areolar morphology", "HP:0032315": "Areolar fullness", "HP:0032316": "Family history", "HP:0032317": "Family history of cancer", "HP:0032318": "Family history of heart disease", "HP:0032319": "Health status", "HP:0032320": "Affected", "HP:0032321": "Unaffected", "HP:0032322": "Healthy", "HP:0032323": "Periodic fever", "HP:0032324": "Non-periodic recurrent fever", "HP:0032325": "Lacunar stroke", "HP:0032326": "Methicillin-resistant Staphylococcus aureus infection", "HP:0032327": "Interhemispheric cyst", "HP:0032328": "Temporomandibular joint adhesion", "HP:0032329": "Increased urinary 11-deoxycortisol level", "HP:0032330": "Increased urinary 11-deoxycorticosterone level", "HP:0032331": "Increased urinary 11-deoxytetrahydrocorticosterone level", "HP:0032332": "Oligoclonal elevation of circulating IgM", "HP:0032333": "Polyclonal elevation of circulating IgA", "HP:0032334": "Oligoclonal elevation of circulating IgA", "HP:0032335": "Monoclonal elevation of circulating IgA", "HP:0032336": "Increased circulating specific IgE antibody", "HP:0032337": "Monoclonal elevation of circulating IgE", "HP:0032338": "Oligoclonal elevation of circulating IgE", "HP:0032339": "Polyclonal elevation of circulating IgE", "HP:0032341": "Reduced forced vital capacity", "HP:0032342": "Reduced forced expiratory volume in one second", "HP:0032344": "Upslanting toenail", "HP:0032345": "Elevated cancer Ag 19-9 level", "HP:0032346": "Cutaneous lichen amyloidosis", "HP:0032347": "Cutaneous macular amyloidosis", "HP:0032348": "Cutaneous nodular amyloidosis", "HP:0032349": "Serinuria", "HP:0032350": "Sulfocysteinuria", "HP:0032351": "Phenylalaninuria", "HP:0032352": "Methioninuria", "HP:0032353": "Leucinuria", "HP:0032355": "Decreased peak expiratory flow", "HP:0032356": "Decreased pre-bronchodilator forced vital capacity", "HP:0032357": "Decreased post-bronchodilator forced vital capacity", "HP:0032358": "Decreased post-bronchodilator forced expiratory volume in one second", "HP:0032359": "Decreased forced expiratory flow 25-75%", "HP:0032360": "Decreased pre-bronchodilator forced expiratory flow 25-75%", "HP:0032361": "Decreased post-bronchodilator forced expiratory flow 25-75%", "HP:0032362": "Increased circulating corticosterone level", "HP:0032363": "Decreased circulating corticosterone level", "HP:0032365": "Exacerbated by aspirin ingestion", "HP:0032366": "Positive direct antiglobulin test", "HP:0032367": "Abnormal growth hormone level", "HP:0032368": "Acidemia", "HP:0032369": "Alkalemia", "HP:0032370": "Blood group A", "HP:0032371": "Isoleucinuria", "HP:0032372": "Increased peripheral blast count", "HP:0032373": "Duffy blood group", "HP:0032374": "Duffy Fya positivity", "HP:0032375": "Duffy Fyb positivity", "HP:0032376": "Anti-beta 2 glycoprotein I antibody positivity", "HP:0032377": "Increased urinary orosomucoid", "HP:0032378": "Immediate-type hypersensitivity drug reaction", "HP:0032379": "Polymorphous light eruption", "HP:0032381": "Hydroa vacciniforme", "HP:0032382": "Uniparental disomy", "HP:0032383": "Uniparental heterodisomy", "HP:0032384": "Uniparental isodisomy", "HP:0032385": "Abnormal circulating transferrin concentration", "HP:0032386": "Elevated circulating transferrin concentration", "HP:0032387": "Reduced circulating transferrin concentration", "HP:0032388": "Periventricular nodular heterotopia", "HP:0032389": "Periventricular laminar heterotopia", "HP:0032390": "Periventricular ribbonlike heterotopia", "HP:0032391": "Subcortical heterotopia", "HP:0032392": "Nodular subcortical heterotopia in peritrigonal regions", "HP:0032393": "Diffuse ribbon-like subcortical heterotopia", "HP:0032394": "Mesial parasagittal subcortical heterotopia", "HP:0032395": "Curvilinear subcortical heterotopia", "HP:0032396": "Transmantle columnar heterotopia", "HP:0032397": "Citrullinuria", "HP:0032398": "Dysgyria", "HP:0032399": "Dysgyria with normal cortical thickness", "HP:0032400": "Dysgyria with thickened cortex", "HP:0032401": "Aspartic aciduria", "HP:0032403": "Asparaginuria", "HP:0032404": "Testicular mass", "HP:0032405": "Increased urinary phosphoserine level", "HP:0032406": "Unilateral perisylvian polymicrogyria", "HP:0032407": "Bilateral perisylvian polymicrogyria", "HP:0032408": "Breast mass", "HP:0032409": "Subcortical band heterotopia", "HP:0032410": "Bilateral generalized polymicrogyria", "HP:0032411": "Posterior predominant subcortical band heterotopia", "HP:0032412": "Anterior predominant subcortical band heterotopia", "HP:0032413": "Diffuse subcortical band heterotopia", "HP:0032414": "Hydroxylysinuria", "HP:0032415": "Parasagittal parieto-occipital polymicrogyria", "HP:0032416": "Retinal microaneurysm", "HP:0032417": "Periglomerular fibrosis", "HP:0032418": "Abnormal HDL subfraction concentration", "HP:0032419": "Abnormal HDL2a concentration", "HP:0032420": "Increased HDL2a concentration", "HP:0032421": "Decreased HDL2a concentration", "HP:0032422": "Abnormal HDL2b concentration", "HP:0032423": "Decreased HDL2b concentration", "HP:0032424": "Increased HDL2b concentration", "HP:0032425": "Abnormal HDL3a concentration", "HP:0032426": "Abnormal HDL3b concentration", "HP:0032427": "Abnormal HDL3c concentration", "HP:0032428": "Increased HDL3a concentration", "HP:0032429": "Decreased HDL3a concentration", "HP:0032430": "Increased HDL3b concentration", "HP:0032431": "Decreased HDL3b concentration", "HP:0032432": "Increased HDL3c concentration", "HP:0032433": "Decreased HDL3c concentration", "HP:0032434": "Delayed umbilical cord separation", "HP:0032435": "Neonatal omphalitis", "HP:0032436": "Abnormal circulating C-reactive protein concentration", "HP:0032437": "Reduced circulating C-reactive protein concecntration", "HP:0032438": "Platelet anisocytosis", "HP:0032439": "Airborn particle hypersensitivity", "HP:0032440": "Blood group B", "HP:0032441": "Blood group AB", "HP:0032442": "Blood group O", "HP:0032443": "Past medical history", "HP:0032444": "Status post organ transplantation", "HP:0032445": "Pulmonary cyst", "HP:0032446": "Pulmonary bulla", "HP:0032447": "Pulmonary bleb", "HP:0032448": "Achlorhydria", "HP:0032449": "Abnormal dermoepidermal hemidesmosome morphology", "HP:0032450": "Positive blood arsenic test", "HP:0032451": "Oral melanotic macule", "HP:0032452": "Oral melanoacanthoma", "HP:0032453": "Abnormal lip pigmentation", "HP:0032454": "Labial melanotic macule", "HP:0032455": "Reduced granulocyte CD18 level", "HP:0032456": "Unlayered lissencephaly", "HP:0032457": "2-3-layered lissencephaly", "HP:0032458": "Narrowing of medullary canal", "HP:0032459": "Abnormal phosphoribosylpyrophosphate synthetase level", "HP:0032460": "Decreased phosphoribosylpyrophosphate synthetase level", "HP:0032462": "Increased circulating palmitate level", "HP:0032463": "Reduced circulating fibronectin level", "HP:0032464": "Ureteral hypoplasia", "HP:0032465": "Bladder trabeculation", "HP:0032466": "Aplasia of the olfactory bulb", "HP:0032467": "Past obstetric history", "HP:0032468": "History of stillbirth", "HP:0032469": "Anti-asialoglycoprotein receptor antibody positivity", "HP:0032470": "Monilethrix", "HP:0032471": "Focal polymicrogyria", "HP:0032472": "Abnormal urine urobilinogen level", "HP:0032473": "Decreased urine urobilinogen", "HP:0032475": "6-layered lissencephaly", "HP:0032476": "Abnormal circulating vitamin B6 level", "HP:0032477": "Elevated circulating vitamin B6 level", "HP:0032478": "Lateral spinal meningocele", "HP:0032479": "Preimplantation lethality", "HP:0032480": "Beta-aminoisobutyric aciduria", "HP:0032481": "Abnormal pituitary glycoprotein hormone alpha subunit level", "HP:0032482": "Decreased pituitary glycoprotein hormone alpha subunit level", "HP:0032484": "Elevated fecal sodium", "HP:0032485": "Abnormal fecal osmolality", "HP:0032486": "Elevated fecal osmolality", "HP:0032487": "Reduced fecal osmolality", "HP:0032488": "Abnormal fecal pH", "HP:0032489": "Elevated fecal pH", "HP:0032490": "Decreased fecal pH", "HP:0032491": "Increased circulating argininosuccinic acid", "HP:0032492": "Anti-myelin oligodendrocyte glycoprotein antibody positivity", "HP:0032493": "Increased circulating trypsinogen", "HP:0032495": "Abnormal terminal:vellus ratio", "HP:0032496": "Elevated terminal:vellus ratio", "HP:0032497": "Reduced terminal:vellus ratio", "HP:0032499": "Giant neutrophil granules", "HP:0032500": "Exacerbated by tobacco use", "HP:0032501": "Exacerbated by contraceptive medication", "HP:0032502": "Exacerbated by barbiturate medication", "HP:0032503": "Ameliorated by ethanol ingestion", "HP:0032504": "Lhermitte's sign", "HP:0032505": "Hydrophobia", "HP:0032506": "Alien limb phenomenon", "HP:0032507": "Labiomental fasciculations", "HP:0032508": "Polyembolokoilamania", "HP:0032509": "Onychotillomania", "HP:0032510": "Tendon pain", "HP:0032511": "Superiorly positioned umbilicus", "HP:0032513": "Four-vessel umbilical cord", "HP:0032514": "Duplicated lacrimal punctum", "HP:0032515": "Deep dermatophytosis", "HP:0032516": "Invasive dermatophyte infection", "HP:0032517": "Majocchi's granuloma", "HP:0032518": "Disseminated dermatophytosis", "HP:0032519": "Increased Burr cell count", "HP:0032520": "Masseter muscular weakness", "HP:0032521": "Self hugging", "HP:0032522": "Ameliorated by immunosuppresion", "HP:0032523": "Tendon thickening", "HP:0032524": "Long thumb", "HP:0032525": "Aggravated by acetylcholinesterase inhibitor", "HP:0032526": "Ameliorated by acetylcholinesterase inhibitor", "HP:0032527": "Inferiorly positioned umbilicus", "HP:0032528": "Elevated urinary 4-hydroxybutyric acid", "HP:0032530": "Decreased succinic semialdehyde dehydrogenase level", "HP:0032531": "Elevated CSF gamma-aminobutyric acid concentration", "HP:0032532": "Elevated CSF 4-hydroxybutyric acid concentration", "HP:0032533": "Elevated circulating acetone concentration", "HP:0032534": "Exacerbated by methylxanthine ingestion", "HP:0032535": "Cervical (neck)", "HP:0032536": "Increased number of lymph nodes", "HP:0032537": "Delayed fracture healing", "HP:0032538": "Pretibial dimple", "HP:0032539": "Joint extensor surface localization", "HP:0032540": "Joint flexor surface localization", "HP:0032541": "Knuckle pad", "HP:0032542": "Exacerbated by pregnancy", "HP:0032543": "Lithoptysis", "HP:0032544": "Predominant small joint localization", "HP:0032545": "Abdominal rigidity", "HP:0032546": "Abdominal guarding", "HP:0032547": "Low intraocular pressure", "HP:0032548": "Increased placental thickness", "HP:0032549": "Persistent asymmetrical tonic neck reflex", "HP:0032550": "Howell-Jolly bodies", "HP:0032551": "Hemorrhoids", "HP:0032552": "Abnormal pulse", "HP:0032553": "Weak pulse", "HP:0032554": "Absent pulse", "HP:0032555": "Bounding pulse", "HP:0032556": "Circumoral cyanosis", "HP:0032557": "History of bone marrow transplant", "HP:0032558": "Absent sperm flagella", "HP:0032559": "Short sperm flagella", "HP:0032560": "Coiled sperm flagella", "HP:0032561": "Microcephalic sperm head", "HP:0032562": "Tapered sperm head", "HP:0032563": "Dacryocytosis", "HP:0032564": "Ileitis", "HP:0032565": "Vaginal mucosal ulceration", "HP:0032566": "Oval macrocytosis", "HP:0032567": "Lipiduria", "HP:0032568": "Urinary mulberry cells", "HP:0032569": "Temporal bossing", "HP:0032570": "Pontine ischemic lacunes", "HP:0032571": "Increased oocyte death", "HP:0032572": "Abnormal urinary nucleobase concentration", "HP:0032573": "Elevated urinary cytidine", "HP:0032574": "Elevated urinary uridine level", "HP:0032575": "Decreased circulating 12-HETE", "HP:0032576": "Intracellular accumulation of Dol-PP-GlcNAc2Man5", "HP:0032577": "Clonal T cell receptor rearrangement", "HP:0032578": "Third ventricle colloid cyst", "HP:0032579": "Vascular hamartoma", "HP:0032580": "Abnormal bulbus cordis morphology", "HP:0032581": "Abnormal renal insterstitial morphology", "HP:0032582": "Renal interstitial foam cells", "HP:0032583": "Renal glomerular foam cells", "HP:0032584": "Renal interstitial neutrophil infiltration", "HP:0032585": "Renal interstitial eosinophil infiltration", "HP:0032586": "Renal interstitial plasma cell infiltration", "HP:0032587": "Renal interstitial calcium oxalate", "HP:0032588": "Hand apraxia", "HP:0032589": "Renal lymphocytic tubulitis", "HP:0032590": "Renal neutrophilic tubulitis", "HP:0032591": "Renal interstitial hemosiderin", "HP:0032592": "Aplasia of the right hemidiaphragm", "HP:0032593": "Myoglobin casts", "HP:0032594": "Renal tubular basement membrane denudation", "HP:0032595": "Renal tubular epithelial cell detachment", "HP:0032596": "Renal tubular epithelial cell cytoplasmic vacuolization", "HP:0032597": "Renal tubular epithelial cell sloughing", "HP:0032598": "Blebbing of apical cytoplasm of renal tubular epithelial cells", "HP:0032599": "Abnormal renal tubular epithelial morphology", "HP:0032600": "Renal tubular epithelial cell hyaline droplets", "HP:0032601": "Multinucleation of renal tubular epithelial cells", "HP:0032602": "Prominent nucleoli of renal tubular epithelial cells", "HP:0032603": "Renal tubular epithelial cell simplification", "HP:0032604": "Renal tubular epithelial cell mitosis", "HP:0032605": "High renal tubular epithelial cell N/C ratio", "HP:0032606": "Renal tubular epithelial lipofuscin", "HP:0032607": "Renal tubular epithelial cell swelling", "HP:0032608": "Thyroidization-type tubular atrophy", "HP:0032609": "Endocrine-type tubular atrophy", "HP:0032610": "Tubulointerstitial mycobacterial infiltration", "HP:0032611": "Renal tubular epithelial cell hemosiderin", "HP:0032612": "Triphalangeal hallux", "HP:0032613": "Renal interstitial amyloid deposits", "HP:0032614": "Renal glomerular amyloid deposition", "HP:0032615": "Abnormal diffusion weighted cerebral MRI morphology", "HP:0032616": "Renal interstitial immunoglobulin deposits", "HP:0032617": "Renal interstitial hemorrhage", "HP:0032618": "Renal necrosis", "HP:0032619": "Perinephric abscess", "HP:0032620": "Intrarenal abscess", "HP:0032621": "Hyperchromasia of renal tubular epithelial cells", "HP:0032622": "Tubular luminal dilatation", "HP:0032623": "Renal intratubular casts", "HP:0032624": "Intratubular bilirubin casts", "HP:0032625": "Intratubular erythrocyte cast", "HP:0032626": "Intratubular vancomycin casts", "HP:0032627": "Intratubular leukocyte casts", "HP:0032628": "Renal intratubular crystals", "HP:0032629": "Intratubular dihydroxyadenuria crystals", "HP:0032630": "Intratubular light-chain casts", "HP:0032631": "Intratubular hemoglobin casts", "HP:0032632": "Renal papillary necrosis", "HP:0032633": "Intratubular hyaline casts", "HP:0032634": "Intratubular myoglobin cast", "HP:0032635": "Tubulointerstitial microganismal infiltration", "HP:0032636": "Tubulointerstitial viral infiltration", "HP:0032637": "Renal interstitial edema", "HP:0032638": "Elevated urine mevalonic acid level", "HP:0032639": "Elevated leukocyte cystine", "HP:0032640": "Elevated circulating CCL18 level", "HP:0032641": "Renal interstitial granulomas", "HP:0032642": "Renal interstitial necrotizing granulomas", "HP:0032643": "Renal interstitial non-necrotizing granulomas", "HP:0032644": "Renal interstitial deposits", "HP:0032645": "Renal interstitial mononuclear cell infiltration", "HP:0032646": "Renal interstitial xanthogranulomatous inflammation", "HP:0032647": "Renal tubular epithelial cell apoptosis", "HP:0032648": "Tubularization of Bowman capsule", "HP:0032649": "Skewfoot", "HP:0032650": "Elevated CSF glial fibrillary acidic protein concentration", "HP:0032651": "Elevated CSF chitinase-3-like protein 1 concentration", "HP:0032652": "Elevated CSF chitotriosidase 1 concentration", "HP:0032653": "Elevated lactate:pyruvate ratio", "HP:0032654": "Impaired flow-mediated arterial dilatation", "HP:0032655": "Decreased adipose tissue tocopherol level", "HP:0032656": "Febrile status epilepticus", "HP:0032657": "Elevated circulating lyso-globotriaosylsphingosine concentration", "HP:0032658": "Status epilepticus with prominent motor symptoms", "HP:0032659": "Non-convulsive status epilepticus with coma", "HP:0032660": "Convulsive status epilepticus", "HP:0032661": "Generalized convulsive status epilepticus", "HP:0032662": "Focal-onset seizure evolving into bilateral convulsive status epilepticus", "HP:0032663": "Focal motor status epilepticus", "HP:0032664": "Adversive status epilepticus", "HP:0032665": "Repeated focal motor seizures", "HP:0032666": "Hyperkinetic status epilepticus", "HP:0032667": "Myoclonic status epilepticus", "HP:0032668": "Myoclonic status epilepticus without coma", "HP:0032669": "Myoclonic status epilepticus with coma", "HP:0032670": "Tonic status epilepticus", "HP:0032671": "Non-convulsive status epilepticus without coma", "HP:0032672": "Autonomic status epilepticus", "HP:0032673": "Focal non-convulsive status epilepticus without coma", "HP:0032674": "Cutaneous wound", "HP:0032675": "Acute cutaneous wound", "HP:0032676": "Chronic cutaneous wound", "HP:0032677": "Generalized-onset motor seizure", "HP:0032678": "Eyelid myoclonia seizure", "HP:0032679": "Focal non-motor seizure", "HP:0032680": "Focal cognitive seizure", "HP:0032681": "Focal aware cognitive seizure", "HP:0032682": "Focal aware non-motor seizure", "HP:0032684": "Focal aware cognitive seizure with auditory agnosia", "HP:0032685": "Focal cognitive seizure with auditory agnosia", "HP:0032686": "Focal aware cognitive seizure with memory impairment", "HP:0032687": "Focal cognitive seizure with memory impairment", "HP:0032688": "Focal aware cognitive seizure with dissociation", "HP:0032689": "Focal cognitive seizure with dissociation", "HP:0032690": "Focal aware cognitive seizure with dyscalculia/acalculia", "HP:0032691": "Focal cognitive seizure with dyscalculia/acalculia", "HP:0032692": "Focal cognitive seizure with forced thinking", "HP:0032693": "Focal cognitive seizure with neglect", "HP:0032694": "Focal cognitive seizure with dyslexia/alexia", "HP:0032696": "Focal cognitive seizure with receptive dysphasia/aphasia", "HP:0032698": "Focal cognitive seizure with conduction dysphasia/aphasia", "HP:0032699": "Focal cognitive seizure with dysgraphia/agraphia", "HP:0032700": "Focal cognitive seizure with left-right confusion", "HP:0032701": "Focal cognitive seizure with anomia", "HP:0032702": "Focal cognitive seizure with expressive dysphasia/aphasia", "HP:0032704": "Focal aware cognitive seizure with illusion", "HP:0032705": "Focal aware cognitive seizure with forced thinking", "HP:0032706": "Focal aware cognitive seizure with left-right confusion", "HP:0032707": "Focal aware cognitive seizure with dyslexia/alexia", "HP:0032708": "Focal aware cognitive seizure with anomia", "HP:0032709": "Focal aware cognitive seizure with dysgraphia/agraphia", "HP:0032710": "Focal aware cognitive seizure with receptive dysphasia/aphasia", "HP:0032711": "Focal aware clonic seizure", "HP:0032712": "Focal impaired awareness motor seizure", "HP:0032713": "Focal impaired awareness motor seizure with version", "HP:0032714": "Focal impaired awareness bilateral motor seizure", "HP:0032715": "Focal bilateral motor seizure", "HP:0032716": "Focal impaired awareness non-motor seizure", "HP:0032717": "Focal impaired awareness motor seizure with dystonia", "HP:0032718": "Focal motor seizure with dystonia", "HP:0032719": "Focal impaired awareness motor seizure with dysarthria/anarthria", "HP:0032720": "Focal motor seizure with dysarthria/anarthria", "HP:0032721": "Focal motor seizure with paresis/paralysis", "HP:0032722": "Focal aware tonic seizure", "HP:0032723": "Focal aware motor seizure with dystonia", "HP:0032724": "Focal impaired awareness tonic seizure", "HP:0032725": "Focal impaired awareness clonic seizure", "HP:0032726": "Focal impaired awareness hyperkinetic seizure", "HP:0032727": "Focal emotional seizure with agitation", "HP:0032728": "Focal impaired awareness atonic seizure", "HP:0032729": "Focal emotional seizure with pleasure", "HP:0032730": "Focal impaired awareness myoclonic seizure", "HP:0032731": "Focal aware hyperkinetic seizure", "HP:0032732": "Focal aware motor seizure with paresis/paralysis", "HP:0032733": "Focal aware motor seizure with dysarthria/anarthria", "HP:0032734": "Focal aware emotional seizure", "HP:0032735": "Focal aware emotional seizure with anger", "HP:0032736": "Focal emotional seizure with anger", "HP:0032737": "Focal emotional seizure with paranoia", "HP:0032738": "Focal aware emotional seizure with fear/anxiety/panic", "HP:0032739": "Focal emotional seizure with fear/anxiety/panic", "HP:0032740": "Focal aware autonomic seizure", "HP:0032741": "Focal aware emotional seizure with paranoia", "HP:0032742": "Focal aware emotional seizure with pleasure", "HP:0032743": "Focal aware emotional seizure with crying", "HP:0032744": "Focal aware emotional seizure with agitation", "HP:0032745": "Focal aware emotional seizure with laughing", "HP:0032746": "Focal impaired awareness emotional seizure", "HP:0032747": "Focal impaired awareness emotional seizure with pleasure", "HP:0032748": "Focal impaired awareness emotional seizure with anger", "HP:0032749": "Focal impaired awareness emotional seizure with paranoia", "HP:0032750": "Focal impaired awareness emotional seizure with laughing", "HP:0032751": "Focal impaired awareness emotional seizure with crying", "HP:0032752": "Focal impaired awareness emotional seizure with fear/anxiety/panic", "HP:0032753": "Focal impaired awareness emotional seizure with agitation", "HP:0032754": "Focal aware sensory seizure", "HP:0032755": "Focal impaired awareness autonomic seizure", "HP:0032756": "Focal impaired awareness cognitive seizure", "HP:0032757": "Focal aware hemiclonic seizure", "HP:0032758": "Focal aware myoclonic seizure", "HP:0032759": "Focal sensory seizure with vestibular features", "HP:0032760": "Focal sensory seizure with hot-cold sensations", "HP:0032761": "Focal aware autonomic seizure with pallor/flushing", "HP:0032762": "Focal autonomic seizure with pallor/flushing", "HP:0032763": "Focal autonomic seizure with pupillary dilation/constriction", "HP:0032764": "Focal autonomic seizure with erection", "HP:0032765": "Focal autonomic seizure with urge to urinate/defecate", "HP:0032766": "Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration", "HP:0032767": "Focal autonomic seizure with piloerection", "HP:0032768": "Focal aware autonomic seizure with pupillary dilation/constriction", "HP:0032769": "Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration", "HP:0032770": "Focal aware autonomic seizure with erection", "HP:0032771": "Focal autonomic seizure with lacrimation", "HP:0032772": "Focal impaired awareness autonomic seizure with piloerection", "HP:0032773": "Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "HP:0032774": "Focal impaired awareness autonomic seizure with urge to urinate/defecate", "HP:0032775": "Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration", "HP:0032776": "Focal aware autonomic seizure with lacrimation", "HP:0032777": "Focal impaired awareness autonomic seizure with pallor/flushing", "HP:0032778": "Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "HP:0032779": "Focal impaired awareness autonomic seizure with pupillary dilation/constriction", "HP:0032780": "Focal impaired awareness autonomic seizure with erection", "HP:0032781": "Focal aware autonomic seizure with urge to urinate/defecate", "HP:0032782": "Focal impaired awareness autonomic seizure with lacrimation", "HP:0032783": "Focal aware autonomic seizure with piloerection", "HP:0032784": "Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "HP:0032785": "Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "HP:0032786": "Migrating focal seizure", "HP:0032787": "Focal impaired awareness sensory seizure", "HP:0032788": "Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "HP:0032789": "Focal aware behavior arrest seizure", "HP:0032790": "Focal impaired awareness behavior arrest seizure", "HP:0032791": "Focal impaired awareness cognitive seizure with anomia", "HP:0032792": "Tonic seizure", "HP:0032793": "Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia", "HP:0032794": "Myoclonic seizure", "HP:0032795": "Generalized myoclonic-tonic-clonic seizure", "HP:0032796": "Focal impaired awareness cognitive seizure with left-right confusion", "HP:0032797": "Focal aware sensory seizure with olfactory features", "HP:0032798": "Focal impaired awareness cognitive seizure with neglect", "HP:0032799": "Focal impaired awareness hemiclonic seizure", "HP:0032800": "Focal aware sensory seizure with vestibular features", "HP:0032801": "Focal impaired awareness cognitive seizure with memory impairment", "HP:0032802": "Focal impaired awareness cognitive seizure with dyscalculia/acalculia", "HP:0032803": "Focal impaired awareness cognitive seizure with dysgraphia/agraphia", "HP:0032804": "Focal impaired awareness sensory seizure with olfactory features", "HP:0032805": "Focal impaired awareness sensory seizure with vestibular features", "HP:0032806": "Focal impaired awareness sensory seizure with visual features", "HP:0032807": "Neonatal seizure", "HP:0032808": "Neonatal seizure with electrographic correlate", "HP:0032809": "Neonatal electro-clinical seizure", "HP:0032810": "Focal sensory seizure with cephalic sensation", "HP:0032811": "Neonatal electrographic only seizure", "HP:0032812": "Neonatal electro-clinical non-motor seizure", "HP:0032813": "Neonatal electro-clinical motor seizure", "HP:0032814": "Neonatal electro-clinical clonic seizure", "HP:0032815": "Neonatal electro-clinical myoclonic seizure", "HP:0032816": "Neonatal multifocal myoclonic seizure", "HP:0032817": "Neonatal focal myoclonic seizure", "HP:0032818": "Neonatal focal clonic seizure", "HP:0032819": "Neonatal bilateral clonic seizure", "HP:0032820": "Neonatal multifocal clonic seizure", "HP:0032821": "Neonatal electro-clinical tonic seizure", "HP:0032822": "Neonatal electro-clinical autonomic seizure", "HP:0032823": "Neonatal electro-clinical seizure with behavior arrest", "HP:0032824": "Neonatal focal tonic seizure", "HP:0032825": "Neonatal electro-clinical sequential seizure", "HP:0032826": "Focal neonatal sequential seizure", "HP:0032827": "Multifocal neonatal sequential seizure", "HP:0032828": "Neonatal bilateral symmetric tonic seizure", "HP:0032829": "Neonatal electro-clinical motor seizure with automatism", "HP:0032830": "Neonatal seizure with bilateral asymmetric automatism", "HP:0032831": "Neonatal bilateral asymmetric tonic seizure", "HP:0032832": "Neonatal bilateral asymmetric myoclonic seizure", "HP:0032833": "Neonatal epileptic spasm", "HP:0032834": "Neonatal seizure with unilateral automatism", "HP:0032835": "Neonatal seizure with bilateral symmetric automatism", "HP:0032836": "Neonatal bilateral symmetric myoclonic seizure", "HP:0032837": "Bilateral asymmetric neonatal sequential seizure", "HP:0032838": "Neonatal unilateral epileptic spasm", "HP:0032839": "Bilateral symmetric neonatal sequential seizure", "HP:0032840": "Neonatal bilateral symmetric epileptic spasm", "HP:0032841": "Neonatal bilateral asymmetric epileptic spasm", "HP:0032842": "Generalized-onset epileptic spasm", "HP:0032843": "Focal-onset epileptic spasm", "HP:0032844": "Focal impaired awareness epileptic spasm", "HP:0032845": "Focal aware epileptic spasm", "HP:0032846": "Focal motor seizure with negative myoclonus", "HP:0032847": "Focal impaired awareness hemifacial clonic seizure", "HP:0032848": "Focal aware cognitive seizure with neglect", "HP:0032849": "Aphasic status epilepticus", "HP:0032850": "Focal aware cognitive seizure with expressive dysphasia/aphasia", "HP:0032851": "Focal aware sensory seizure with visual features", "HP:0032852": "Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia", "HP:0032853": "Focal impaired awareness sensory seizure with hot-cold sensations", "HP:0032854": "Focal aware hemifacial clonic seizure", "HP:0032855": "Photosensitive myoclonic-tonic-clonic seizure", "HP:0032856": "Focal aware bilateral motor seizure", "HP:0032857": "Focal aware motor seizure with negative myoclonus", "HP:0032858": "Focal impaired awareness motor seizure with negative myoclonus", "HP:0032859": "Focal impaired awareness motor seizure with paresis/paralysis", "HP:0032860": "Generalized non-convulsive status epilepticus without coma", "HP:0032861": "Focal non-convulsive status epilepticus with impairment of consciousness", "HP:0032862": "Status epilepticus with ictal paresis", "HP:0032863": "Typical absence status epilepticus", "HP:0032864": "Focal aware sensory seizure with auditory features", "HP:0032865": "Myoclonic absence status epilepticus", "HP:0032866": "Oculoclonic status epilepticus", "HP:0032867": "Refractory status epilepticus", "HP:0032868": "Super-refractory status epilepticus", "HP:0032869": "Focal non-convulsive status epilepticus without impairment of consciousness", "HP:0032870": "Focal impaired awareness cognitive seizure with dyslexia/alexia", "HP:0032871": "Focal aware cognitive seizure with hallucination", "HP:0032872": "Focal impaired awareness cognitive seizure with illusion", "HP:0032873": "Focal aware sensory seizure with cephalic sensation", "HP:0032874": "Focal impaired awareness cognitive seizure with auditory agnosia", "HP:0032876": "Focal aware cognitive seizure with conduction dysphasia/aphasia", "HP:0032877": "Focal aware sensory seizure with hot-cold sensations", "HP:0032878": "Focal impaired awareness sensory seizure with cephalic sensation", "HP:0032879": "Focal impaired awareness seizure with dissociation at onset", "HP:0032880": "Focal impaired awareness sensory seizure with auditory features", "HP:0032882": "Focal impaired awareness cognitive seizure with deja vu/jamais vu", "HP:0032883": "Focal aware cognitive seizure with deja vu/jamais vu", "HP:0032884": "Focal aware sensory seizure with somatosensory features", "HP:0032885": "Focal impaired awareness cognitive seizure with hallucination", "HP:0032886": "Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia", "HP:0032887": "Generalized atonic seizure", "HP:0032888": "Focal impaired awareness cognitive seizure with forced thinking", "HP:0032889": "Focal aware sensory seizure with gustatory features", "HP:0032890": "Focal impaired awareness sensory seizure with somatosensory features", "HP:0032891": "Focal aware motor seizure with version", "HP:0032892": "Infection-related seizure", "HP:0032893": "Gastroenteritis-related afebrile seizure", "HP:0032894": "Seizure precipitated by febrile infection", "HP:0032895": "Febrile seizure outside the age of 3 months to 6 years", "HP:0032896": "Music-induced seizure", "HP:0032897": "Focal impaired awareness sensory seizure with gustatory features", "HP:0032898": "Focal automatism seizure", "HP:0032899": "Focal orofacial automatism seizure", "HP:0032900": "Focal manual automatism seizure", "HP:0032901": "Focal pedal automatism seizure", "HP:0032902": "Focal perseverative automatism seizure", "HP:0032903": "Focal vocal automatism seizure", "HP:0032904": "Focal verbal automatism seizure", "HP:0032905": "Focal sexual automatism seizure", "HP:0032906": "Focal head nodding automatism seizure", "HP:0032907": "Focal undressing automatism seizure", "HP:0032908": "Focal aware undressing automatism seizure", "HP:0032909": "Focal impaired awareness automatism seizure", "HP:0032910": "Focal aware automatism seizure", "HP:0032911": "Focal aware orofacial automatism seizure", "HP:0032912": "Focal aware manual automatism seizure", "HP:0032913": "Focal aware pedal automatism seizure", "HP:0032914": "Focal aware perseverative automatism seizure", "HP:0032915": "Focal aware vocal automatism seizure", "HP:0032916": "Focal aware verbal automatism seizure", "HP:0032917": "Focal aware sexual automatism seizure", "HP:0032918": "Focal impaired awareness orofacial automatism seizure", "HP:0032919": "Focal aware head nodding automatism seizure", "HP:0032920": "Focal impaired awareness manual automatism seizure", "HP:0032921": "Focal impaired awareness pedal automatism seizure", "HP:0032922": "Focal impaired awareness perseverative automatism seizure", "HP:0032923": "Focal impaired awareness vocal automatism seizure", "HP:0032924": "Focal impaired awareness verbal automatism seizure", "HP:0032925": "Focal impaired awareness sexual automatism seizure", "HP:0032926": "Focal impaired awareness head nodding automatism seizure", "HP:0032927": "Focal impaired awareness undressing automatism seizure", "HP:0032928": "Elevated CSF neurofilament light chain concentration", "HP:0032929": "Abnormal chondrocyte morphology", "HP:0032930": "Lacunar halos around chondrocytes", "HP:0032932": "Increased circulating pancreatic triacylglycerol lipase level", "HP:0032933": "Airway hyperresponsiveness", "HP:0032934": "Spontaneous cerebrospinal fluid leak", "HP:0032935": "Posterior crocodile shagreen of the cornea", "HP:0032936": "Intrusion symptom", "HP:0032937": "Recurrent, involuntary and intrusive distressing memories", "HP:0032938": "Recurrent trauma-related distressing dreams", "HP:0032939": "Physiological reactivity to cues", "HP:0032940": "Dissociative reaction", "HP:0032941": "Intense psychological distress to cues", "HP:0032942": "Avoidance of stimuli associated with traumatic event", "HP:0032943": "Abnormal urine pH", "HP:0032944": "Alkaline urine", "HP:0032945": "Renal interstitial inflammation", "HP:0032946": "Renal cortical interstitial inflammation", "HP:0032947": "Renal medullary interstitial inflammation", "HP:0032948": "Renal interstitial fibrosis", "HP:0032949": "Renal interstitial calcium phosphate deposits", "HP:0032950": "Abnormal renal tubular lumen morphology", "HP:0032951": "Renal tubular viral cytopathic changes", "HP:0032952": "Usual-type tubular atrophy", "HP:0032953": "Renal tubular cytomegalovirus inclusions", "HP:0032954": "Renal tubular adenovirus inclusions", "HP:0032955": "Renal tubular polyoma virus inclusions", "HP:0032956": "Renal tubular herpes simplex virus inclusions", "HP:0032957": "Dysmorphic hematuria", "HP:0032958": "Urinary oval fat bodies", "HP:0032959": "Intratubular calcium oxalate casts", "HP:0032960": "Intratubular calcium phosphate casts", "HP:0032961": "Magnesium ammonium phosphate crystalluria", "HP:0032962": "Tubular microcystic change", "HP:0032963": "Complex renal cyst", "HP:0032964": "Uric acid crystalluria", "HP:0032965": "Interstitial emphysema", "HP:0032966": "Centrilobular emphysema", "HP:0032967": "Panacinar emphysema", "HP:0032968": "Expiratory air trapping", "HP:0032969": "Traction bronchiectasis", "HP:0032970": "Traction bronchiolectasis", "HP:0032971": "Computed tomographic halo sign", "HP:0032972": "Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT", "HP:0032973": "Abnormal bronchoalveolar lavage fluid morphology", "HP:0032974": "Abnormal cellular composition of bronchoalveolar fluid", "HP:0032975": "Abnormal bronchoalveolar fluid protein level", "HP:0032976": "Elevated bronchoalveolar lavage fluid lymphocyte proportion", "HP:0032977": "Elevated bronchoalveolar lavage fluid neutrophil proportion", "HP:0032978": "Lipid-laden macrophages in bronchoalveolar fluid", "HP:0032979": "Hemosiderin-laden macrophages in bronchoalveolar fluid", "HP:0032980": "Absent bronchoalveolar surfactant-protein C", "HP:0032981": "Absent bronchoalveolar dimeric surfactant-protein B", "HP:0032983": "Atoll sign", "HP:0032984": "Abnormal alveolar macrophage morphology", "HP:0032985": "Dust particle inclusion in alveolar macrophages", "HP:0032986": "Smoker-inclusions in alveolar macrophages", "HP:0032987": "Elevated bronchoalveolar lavage fluid eosinophil proportion", "HP:0032988": "Persistent head lag", "HP:0032989": "Delayed ability to roll over", "HP:0032990": "Localized pulmonary hemorrhage", "HP:0032991": "Abnormal pulmonary fissure morphology", "HP:0032992": "Abnormal pulmonary fissure architecture", "HP:0032993": "Abnormal pulmonary fissure count", "HP:0032994": "Supernumerary pulmonary fissure", "HP:0032995": "Decreased pulmonary fissure count", "HP:0032996": "Abnormal cystatin C level", "HP:0032997": "Decreased cystatin C level", "HP:0032998": "Increased cystatin C level", "HP:0032999": "Increased fecal porphyrin", "HP:0033000": "Subglottic laryngitis", "HP:0033001": "Laryngeal papilloma", "HP:0033002": "Bronchial papilloma", "HP:0033003": "Tracheal papilloma", "HP:0033004": "Palmar warts", "HP:0033005": "Plantar warts", "HP:0033006": "Diffuse alveolar damage", "HP:0033007": "Architectural distortion of the lung", "HP:0033008": "Increased Z-disc width", "HP:0033009": "Increased fecal coproporphyrin 1", "HP:0033010": "Increased fecal coproporphyrin 3", "HP:0033011": "Platystencephaly", "HP:0033012": "Abnormal salivary metabolite concentration", "HP:0033013": "Abnormal salivary cortisol level", "HP:0033014": "Decreased salivary cortisol level", "HP:0033015": "Increased salivary cortisol level", "HP:0033016": "Chronic decreased circulating IgD", "HP:0033017": "Transient decreased circulating IgD", "HP:0033018": "Chronic absent circulating IgD", "HP:0033019": "Male reproductive system neoplasm", "HP:0033020": "Female reproductive system neoplasm", "HP:0033021": "Transient decreased circulating IgE", "HP:0033022": "Chronic decreased circulating IgE", "HP:0033023": "Chronic absent circulating IgE", "HP:0033024": "Transient decreased circulating IgA", "HP:0033025": "Chronic absent circulating total IgG", "HP:0033026": "White oral mucosal macule", "HP:0033027": "Retinal peau d'orange", "HP:0033028": "Anti-U1 ribonucleoprotein antibody positivity", "HP:0033030": "Anti-glomerular basement membrane-antibody positivity", "HP:0033031": "Hyperpyrexia", "HP:0033032": "Triggered by an abusive adult", "HP:0033033": "Anti-MDA5 antibody positivity", "HP:0033034": "Anti-citrullinated protein antibody positivity", "HP:0033035": "Abnormal Schwann cell morphology", "HP:0033036": "Decreased nasal nitric oxide", "HP:0033037": "Migratory arthritis", "HP:0033038": "Anti-RNA-polymerase-III-autoantibody positivity", "HP:0033039": "Increased circulating precipitin level", "HP:0033040": "Anti-Sm antibody positivity", "HP:0033041": "Cytokine storm", "HP:0033042": "Abnormal chorion morphology", "HP:0033043": "Edematous chorionic villi", "HP:0033044": "Motor regression", "HP:0033045": "Bipedal edema", "HP:0033046": "Michaelis-Gutmann bodies", "HP:0033047": "Body ache", "HP:0033048": "Substantia nigra hypointensity on susceptibility-weighted imaging", "HP:0033049": "Globus pallidus hypointensity on susceptibility-weighted imaging", "HP:0033050": "Pharyngalgia", "HP:0033051": "Impaired executive functioning", "HP:0033052": "Psychogenic non-epileptic seizure", "HP:0033053": "Pseudoseizure", "HP:0033054": "Myoclonic tremor", "HP:0033055": "Impaired ability to plan", "HP:0033056": "Impaired ability to organize", "HP:0033057": "Decreased circulating terminal complement component concentration", "HP:0033058": "Decreased circulating complement C7 concentration", "HP:0033059": "Decreased circulating complement C6 concentration", "HP:0033060": "Decreased circulating complement C5 concentration", "HP:0033061": "Increased factor IX activity", "HP:0033062": "Abnormal factor IX activity", "HP:0033063": "Shortened sleep cycle", "HP:0033064": "Renal interstitial globotriaosylceramide inclusions", "HP:0033065": "Mild albuminuria", "HP:0033066": "Severe albuminuria", "HP:0033067": "Cystine crystalluria", "HP:0033068": "Medication crystalluria", "HP:0033069": "Renal interstitial IgG4+ plasma cell infiltration", "HP:0033070": "Impaired self monitoring", "HP:0033071": "Impaired task monitoring", "HP:0033072": "Abnormal macroscopic urine appearance", "HP:0033073": "Urate tophus", "HP:0033074": "Steroid-responsive anemia", "HP:0033075": "Inappropriately normal thyroid-stimulating hormone level", "HP:0033076": "Abnormal circulating free T4 concentration", "HP:0033077": "Increased circulating free T4 concentration", "HP:0033078": "Decreased circulating free T4 concentration", "HP:0033079": "Aplasia/Hypoplasia of the thyroid gland", "HP:0033080": "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test", "HP:0033081": "Absent TSH response to thyrotrophin-releasing hormone stimulation test", "HP:0033082": "Reduced TSH response to thyrotrophin-releasing hormone stimulation test", "HP:0033083": "Increased circulating farnesol concentration", "HP:0033084": "Abnormal antral follicle count", "HP:0033085": "Reduced antral follicle count", "HP:0033086": "Increased antral follicle count", "HP:0033087": "Quotidian fever", "HP:0033088": "Valinuria", "HP:0033089": "Branched-chain aminoaciduria", "HP:0033090": "Increased aromatic amino acid level in urine", "HP:0033091": "Tyrosinuria", "HP:0033092": "Increased urine succinate level", "HP:0033093": "Increased glutamine family amino acid level in urine", "HP:0033094": "Increased urine glutamate level", "HP:0033095": "Increased sulfur amino acid level in urine", "HP:0033096": "Increased aspartate family amino acid level in urine", "HP:0033097": "Increased urine proteinogenic amino acid derivative level", "HP:0033098": "Increased urinary non-proteinogenic amino acid level", "HP:0033099": "Increased serine family amino acid in urine", "HP:0033100": "Increased proteinogenic amino acid level in urine", "HP:0033101": "Elevated urine aconitic acid level", "HP:0033102": "Monkey wrench femoral neck", "HP:0033103": "Elevated circulating CHI3L1 level", "HP:0033104": "Inappropriate absence of fever", "HP:0033105": "Interhypothalamic adhesion", "HP:0033106": "Elevated circulating D-dimer concentration", "HP:0033107": "Abnormal circulating proteinogenic amino acid concentration", "HP:0033108": "Abnormal circulating proteinogenic amino acid derivative concentration", "HP:0033109": "Abnormal circulating non-proteinogenic amino acid concentration", "HP:0033110": "Elevated circulating alpha-aminobutyric acid concentration", "HP:0033111": "3-hydroxyisovaleric aciduria", "HP:0033112": "Elevated circulating apolipoprotein C-III concentration", "HP:0033113": "Gallop rhythm", "HP:0033114": "Quadruple gallop rhythm", "HP:0033115": "Elevated circulating tenascin-C level", "HP:0033116": "Duodenal gastric metaplasia", "HP:0033117": "Duodenitis", "HP:0033118": "Abnormal right ventricular function", "HP:0033119": "Elevated right ventricular systolic pressure", "HP:0033120": "Nummular eczema", "HP:0033121": "Barking cough", "HP:0033122": "Absent P wave", "HP:0033123": "Elevated circulating osteopontin level", "HP:0033124": "Increased serum sorbitol concentration", "HP:0033125": "Follicular lymphoma", "HP:0033126": "Cutaneous necrosis", "HP:0033127": "Abnormality of the musculoskeletal system", "HP:0033128": "Delayed ability to crawl", "HP:0033129": "Abnormal shoulder physiology", "HP:0033130": "Abnormal renal echogenicity", "HP:0033131": "Renal medullary hyperechogenicity", "HP:0033132": "Renal cortical hyperechogenicity", "HP:0033133": "Renal cortical hypoechogeneity", "HP:0033134": "Abdominal adhesions", "HP:0033135": "Hepatic infarction", "HP:0033136": "Lymph node abscess", "HP:0033137": "Abnormal pulmonary alveolar system morphology", "HP:0033138": "Right atrial thrombus", "HP:0033139": "Elevated circulating uracil concentration", "HP:0033140": "Blake's pouch cyst", "HP:0033141": "Severe SARS-CoV-2 infection", "HP:0033142": "Long nasal bridge", "HP:0033143": "Jejunitis", "HP:0033144": "Abnormal circulating ceruloplasmin concentration", "HP:0033145": "Increased circulating ceruloplasmin concentration", "HP:0033146": "Elevated circulating methylsuccinic acid concentration", "HP:0033147": "Abnormal circulating short-chain fatty-acid concentration", "HP:0033148": "Increased circulating isovaleric acid concentration", "HP:0033149": "Intrahepatic bile duct dilatation", "HP:0033150": "Anorectal abscess", "HP:0033151": "Abnormal pharynx morphology", "HP:0033152": "Abnormal pharynx physiology", "HP:0033153": "Elevated circulating dodecenoylcarnitine concentration", "HP:0033154": "Elevated circulating deoxypyridinoline concentration", "HP:0033155": "Elevated circulating L-alloisoleucine concentration", "HP:0033156": "Elevated urine L-alloisoleucine level", "HP:0033157": "Elevated circulating 3-methylhistidine concentration", "HP:0033158": "Reduced respiratory ciliary beating frequency", "HP:0033159": "Reduced urinary inosine level", "HP:0033160": "Decreased urinary guanosine level", "HP:0033161": "Abnormal urinary purine level", "HP:0033162": "Abnormal urinary pyrimidine level", "HP:0033163": "Small intestinal bacterial overgrowth", "HP:0033164": "Focal active colitis", "HP:0033165": "Necrotizing enterocolitis", "HP:0033166": "Recurrent viral upper respiratory tract infections", "HP:0033167": "Neutrophilic urticarial dermatosis", "HP:0033168": "Reduced mevalonate kinase activity", "HP:0033169": "Reduced total lung capacity", "HP:0033170": "Abnormal skinfold thickness measurement", "HP:0033171": "Abnormal triceps skinfold thickness", "HP:0033172": "Increased triceps skinfold thickness", "HP:0033173": "Milky appearance of bronchoalveolar lavage fluid", "HP:0033174": "Bloody bronchoalveolar lavage fluid", "HP:0033175": "Elevated circulating 5-oxoproline concentration", "HP:0033176": "Submandibular lymph node enlargement", "HP:0033177": "Elevated circulating suberic acid concentration", "HP:0033178": "Increased circulating interleukin 8 concentration", "HP:0033179": "Elevated circulating aconitic acid concentration", "HP:0033180": "Torsion of appendix of testis", "HP:0033181": "Spinal epidural abscess", "HP:0033182": "Increased circulating cathepsin D level", "HP:0033183": "Bilobed right lung", "HP:0033184": "Triggered by infection", "HP:0033185": "Triggered by EBV infection", "HP:0033186": "Misalignment of the pulmonary veins", "HP:0033187": "Hyperimidodipeptiduria", "HP:0033188": "Cystic acne", "HP:0033189": "Radiculomegaly", "HP:0033190": "Hypertrichotic hyperpigmented patch", "HP:0033191": "Increased circulating selenium concentration", "HP:0033192": "Decreased circulating selenium concentration", "HP:0033193": "Ballooning hepatocyte degeneration", "HP:0033194": "Perioral erythema", "HP:0033195": "Perianal erythema", "HP:0033196": "Portal inflammation", "HP:0033197": "Hepatic lobular inflammation", "HP:0033198": "Triggered by viral infection", "HP:0033199": "Increased circulating interleukin 10 concentration", "HP:0033200": "Triceps hyporeflexia", "HP:0033201": "Biceps hyporeflexia", "HP:0033202": "Brachioradialis hyporeflexia", "HP:0033203": "Brachioradialis hyperreflexia", "HP:0033204": "Triceps hyperreflexia", "HP:0033205": "Biceps hyperreflexia", "HP:0033206": "Hyperactive Achilles reflex", "HP:0033207": "Increased proportion autoreactive unresponsive CD21-/low B cells", "HP:0033208": "Alveolar capillary dysplasia", "HP:0033209": "Acinar dysplasia", "HP:0033210": "Congenital alveolar dysplasia", "HP:0033211": "Decreased total iron binding capacity", "HP:0033212": "Abnormal total iron binding capacity", "HP:0033213": "Elevated urine suberic acid level", "HP:0033214": "Recurrent viral pneumonia", "HP:0033215": "Obliterative abnormality of the renal glomerulus", "HP:0033216": "Glomerular hyalinosis", "HP:0033217": "Perihilar glomerular hyalinosis", "HP:0033218": "Glomerular hyalinosis at the tubular pole", "HP:0033219": "Glomerular hyalinosis away from the vascular and tubular poles", "HP:0033220": "2-ethylhydracylic aciduria", "HP:0033221": "Increased CD4:CD8 ratio", "HP:0033222": "Decreased CD4:CD8 ratio", "HP:0033223": "Abnormal glomerular parietal epithelial cell morphology", "HP:0033224": "Glomerular parietal epithelial cell hyperplasia", "HP:0033225": "Glomerular parietal epithelial cell hypertrophy", "HP:0033226": "Bowman capsular hyaline drops", "HP:0033227": "Glomerular synechial adhesion", "HP:0033228": "Triceps areflexia", "HP:0033229": "Brachioradialis areflexia", "HP:0033230": "Biceps areflexia", "HP:0033231": "Abnormal glomerular mesangial cellularity", "HP:0033232": "Abnormal glomerular mesangial matrix morphology", "HP:0033233": "Paramesangial deposits", "HP:0033234": "Mesangial hyaline deposition", "HP:0033235": "Difficulty descending stairs", "HP:0033236": "Cognitive fatigue", "HP:0033237": "Visceral epithelial cell detachment", "HP:0033238": "Podocyte microvillous transformation", "HP:0033239": "Visceral epithelial cell capping", "HP:0033240": "Elevated RV/TLC ratio", "HP:0033241": "Polyalveolar lobe", "HP:0033242": "Horseshoe lung", "HP:0033243": "Pulmonary necrosis", "HP:0033244": "Glycogen accumulation in pulmonary interstitial cells", "HP:0033245": "Abnormal alveolar type II pneumocyte morphology", "HP:0033246": "Type II pneumocyte hypertrophy", "HP:0033247": "Pulmonary amyloidosis", "HP:0033248": "Multiple pulmonary interstitial hyalinized nodules", "HP:0033249": "Focal substantia nigra T2 hyperintensity", "HP:0033250": "Nailfold capillary tortuosity", "HP:0033251": "Elevated residual volume", "HP:0033252": "Palmar hyperlinearity", "HP:0033253": "Reduced circulating interferon gamma concentration", "HP:0033254": "Anorectal stricture", "HP:0033255": "Congenital lobar overinflation", "HP:0033256": "Pancolitis", "HP:0033257": "Delayed ability to walk with support", "HP:0033258": "Sudden unexpected death in epilepsy", "HP:0033259": "Non-motor seizure", "HP:0033260": "Livedo racemosa", "HP:0033261": "Renal artery aneurysm", "HP:0033262": "Transphyseal fracture of the distal humerus", "HP:0033263": "Absent platelet dense granules", "HP:0033264": "Enlarged platelet dense granules", "HP:0033265": "Podocyte myelin figures", "HP:0033266": "Glomerular pseudocrescent", "HP:0033267": "Abnormal glomerular capillary lumen morphology", "HP:0033268": "Deflation of the glomerular tuft", "HP:0033269": "Glomerular capillary collapse", "HP:0033270": "Glomerular capillary congestion", "HP:0033271": "Glomerular capillary microaneurysm", "HP:0033272": "Abnormal glomerular endothelial cell morphology", "HP:0033273": "Loss of glomerular endothelial cell fenestration", "HP:0033274": "Glomerular endotheliosis", "HP:0033275": "Glomerular endothelial tubuloreticular inclusion", "HP:0033277": "Glomerular fibrinoid necrosis", "HP:0033278": "Reduced CD95-induced lymphocyte apoptosis", "HP:0033279": "Enterocutaneous fistula", "HP:0033280": "Paratracheal lymphadenopathy", "HP:0033281": "Circulating nucleated red blood cells", "HP:0033282": "Abnormal glomerular basement membrane morphology", "HP:0033283": "Segmentally thickened glomerular basement membrane", "HP:0033284": "Diffusely thickened glomerular basement membrane", "HP:0033285": "Thickened glomerular basement membranes with no electron dense deposits", "HP:0033286": "Thickened glomerular basement membranes with electron dense deposits", "HP:0033287": "Glomerular basement membrane lucencies", "HP:0033288": "Glomerular basement membrane spikes", "HP:0033289": "Glomerular basement membrane wrinkling", "HP:0033290": "Glomerular subendothelial widening", "HP:0033291": "Glomerular karyhorrhectic debris", "HP:0033292": "Glomerular fibrin thrombus", "HP:0033293": "Glomerular hyaline pseudothrombus", "HP:0033294": "Glomerular lipoprotein thrombus", "HP:0033295": "Mesangial Immune complex deposition", "HP:0033296": "Binucleated visceral epithelial cells", "HP:0033297": "Multinucleated visceral epithelial cells", "HP:0033298": "Abnormal circulating complement factor H related protein 1 concentration", "HP:0033299": "Reduced circulating complement factor H related protein 1 concentration", "HP:0033300": "Increased circulating complement factor H related protein 1 concentration", "HP:0033301": "Elevated circulating 1-methylhistidine concentration", "HP:0033302": "Elevated circulating 4-hydroxyphenylacetic acid concentration", "HP:0033303": "Elevated urinary monocarboxylic acid level", "HP:0033305": "Abnormal circulating fetuin A concentration", "HP:0033306": "Decreased circulating fetuin A concentration", "HP:0033307": "Increased circulating fetuin A concentration", "HP:0033308": "Patellar overgrowth", "HP:0033309": "Ileoileal intussusception", "HP:0033310": "Osmotic diarrhea", "HP:0033311": "Abdominal aortic dissection", "HP:0033312": "Abnormal Bowman space morphology", "HP:0033313": "Urinary space collagenization", "HP:0033314": "Visceral epithelial cell hyperplasia", "HP:0033315": "Visceral epithelial hyaline droplets", "HP:0033316": "Glomerular crescent formation", "HP:0033317": "Cellular crescent", "HP:0033318": "Fibrocellular crescent", "HP:0033319": "Fibrous crescent", "HP:0033320": "Mesangial cell loss", "HP:0033321": "Glomerular obsolescence", "HP:0033322": "Glomerular capillary wall duplication without cellular interposition", "HP:0033323": "Glomerular capillary wall duplication with cellular interposition", "HP:0033324": "Elevated circulating homovanillic acid concentration", "HP:0033325": "Elevated circulating sebacic acid concentration", "HP:0033326": "Elevated circulating hydroxyphenlyllactic acid concentration", "HP:0033327": "Nail psoriasis", "HP:0033328": "Type II pneumocyte hyperplasia", "HP:0033329": "Abnormal postural reflex", "HP:0033330": "Impaired neck-righting reflex", "HP:0033331": "Acute phase response", "HP:0033332": "Elevated circulating amyloid A", "HP:0033333": "Jaw contracture", "HP:0033334": "Abnormal embryonic development", "HP:0033335": "Abnormal preimplantation embryonic development", "HP:0033336": "Zygotic cleavage failure", "HP:0033337": "Abnormal gametogenesis", "HP:0033338": "Abnormal female meiosis", "HP:0033339": "Increased circulating inosine concentration", "HP:0033340": "Increased circulating guanosine concentration", "HP:0033341": "Elevated circulating sitosterol concentration", "HP:0033342": "Anti-aquaporin 4 antibody positivity", "HP:0033343": "Mucoid diarrhea", "HP:0033344": "Pleural cobblestoning", "HP:0033345": "Neuralgia", "HP:0033346": "Psychic epileptic aura", "HP:0033347": "Cognitive epileptic aura", "HP:0033348": "Epileptic aura", "HP:0033349": "Seizure cluster", "HP:0033350": "Elevated forced expiratory volume in one second", "HP:0033351": "Candida esophagitis", "HP:0033352": "Pulmonary hypertensive crisis", "HP:0033353": "Abnormal blood vessel morphology", "HP:0033354": "Abnormal urine metabolite level", "HP:0033355": "Increased urine deoxypyridinoline level", "HP:0033356": "Elevated circulating o-phosphoserine concentration", "HP:0033357": "Limited head rotation", "HP:0033358": "Abnormal urine osmolality", "HP:0033359": "Hyperosthenuria", "HP:0033360": "Impaired ability to shift attention", "HP:0033361": "Nasal ulcer", "HP:0033362": "Recurrent coughing spasms", "HP:0033363": "Hyaline membranes", "HP:0033364": "Lipoid pneumonia", "HP:0033365": "Endogenous lipoid pneumonia", "HP:0033366": "Exogenous lipoid pneumonia", "HP:0033367": "Orthodeoxia", "HP:0033368": "Platypnea", "HP:0033369": "Cavitating leukodystrophy", "HP:0033370": "Bronchial telangiectasia", "HP:0033371": "Bronchocentric granulomatosis", "HP:0033372": "Abnormal KCO", "HP:0033373": "Increased KCO", "HP:0033374": "Decreased KCO", "HP:0033375": "Anthracosis", "HP:0033376": "Alveolar septal thickening", "HP:0033377": "Increased airway neuroendocrine cells", "HP:0033378": "Increased airway neuroepithelial bodies", "HP:0033379": "Bilateral superior vena cava", "HP:0033380": "Nasal chondritis", "HP:0033381": "Elevated circulating stearoylcarnitine concentration", "HP:0033382": "Elevated circulating palmitoylcarnitine concentration", "HP:0033383": "Decreased compound muscle action potential amplitude", "HP:0033384": "Elevated urinary collagen degradation products", "HP:0033385": "Elevated urine pyridinoline level", "HP:0033386": "Abnormal circulating collagen degradation product concentration", "HP:0033387": "Elevated circulating pyridinoline concentration", "HP:0033388": "Abnormal bronchial artery morphology", "HP:0033389": "Bronchopulmonary anastomosis", "HP:0033390": "Bronchial artery dilatation", "HP:0033391": "Bronchial artery hypertrophy", "HP:0033392": "Perivascular pre-capillary pulmonary artery inflammation", "HP:0033393": "Irregularly shaped sperm tail", "HP:0033394": "Anti-carbonic anhydrase II antibody positivity", "HP:0033395": "Antilactoferrin antibody positivity", "HP:0033396": "Glomerular extracapillary fibrin", "HP:0033397": "Bowman-space proteinaceous debris", "HP:0033398": "Pleural plaque", "HP:0033399": "Persistent fever", "HP:0033400": "Acute abdomen", "HP:0033401": "Tissue ischemia", "HP:0033402": "Digital ischemia", "HP:0033403": "Testicular ischemia", "HP:0033404": "Intestinal ischemia", "HP:0033405": "Abnormal circulating organic amino compound concentration", "HP:0033406": "Elevated circulating o-phosphoethanolamine concentration", "HP:0033407": "Elevated urine acetoacetic acid level", "HP:0033408": "Elevated circulating acetoacetic acid concentration", "HP:0033409": "Elevated urinary 2-hydroxybutyric acid", "HP:0033410": "Elevated circulating cartilage oligomeric matrix protein concentration", "HP:0033411": "Lower extremity akinesia", "HP:0033412": "Upper extremity akinesia", "HP:0033413": "Upper extremity hypokinesia", "HP:0033414": "Lower extremity hypokinesia", "HP:0033415": "Cardiac tamponade", "HP:0033416": "Hip adductor weakness", "HP:0033417": "Elevated circulating hydroxybutyric acid concentration", "HP:0033418": "Elevated circulating 2-hydroxybutyric acid concentration", "HP:0033419": "Elevated circulating 3-hydroxybutyric acid concentration", "HP:0033420": "Pulmonary arterial plexiform lesion", "HP:0033421": "Pulmonary artery intimal thickening", "HP:0033422": "Pulmonary artery adventitial fibrosis", "HP:0033423": "Pulmonary arterial hypertension with positive acute response to NO challenge", "HP:0033424": "Pulmonary arterial hypertension with lack of acute response to NO challenge", "HP:0033425": "Periungual erythema", "HP:0033426": "Pulmonary air embolism", "HP:0033427": "Pulmonary capillary angioectasia", "HP:0033428": "Systemic autoinflammation", "HP:0033429": "Neuroinflammation", "HP:0033430": "Non-infectious meningitis", "HP:0033431": "Cytomegalovirus colitis", "HP:0033432": "Opportunistic viral infection", "HP:0033433": "Ileocecal ulcer", "HP:0033434": "Nasal septum perforation", "HP:0033435": "Abnormal circulating keto acid concentration", "HP:0033436": "Elevated circulating 3-methyl-2-oxovaleric acid concentration", "HP:0033437": "Elevated circulating 4-methyl-2-oxopentanoic acid concentration", "HP:0033438": "Elevated circulating myoglobin concentration", "HP:0033439": "Elevated circulating decenoylcarnitine concentration", "HP:0033440": "Elevated circulating octenoylcarnitine concentration", "HP:0033441": "Elevated circulating hexanoylcarnitine concentration", "HP:0033442": "Elevated circulating glutarylcarnitine concentration", "HP:0033443": "Elevated circulating propionylcarnitine concentration", "HP:0033444": "Elevated circulating dodecanoylcarnitine concentration", "HP:0033445": "Reduced circulating acylcarnitine concentration", "HP:0033446": "Elevated circulating butyrylcarnitine concentration", "HP:0033447": "Elevated circulating isovalerylcarnitine concentration", "HP:0033448": "Increased mid-arm muscle circumference", "HP:0033449": "Decreased mid-arm muscle circumference", "HP:0033450": "Abnormal circulating prealbumin concentration", "HP:0033451": "Increased circulating prealbumin concentration", "HP:0033452": "Decreased circulating prealbumin concentration", "HP:0033453": "Limited neck extension", "HP:0033454": "Tube feeding", "HP:0033456": "Elevated urine keto acid level", "HP:0033457": "Elevated urine 3-methyl-2-oxovaleric acid level", "HP:0033458": "Elevated urine 4-methyl-2-oxopentanoic acid level", "HP:0033459": "Decreased circulating apolipoprotein concentration", "HP:0033460": "Increased circulating apolipoprotein circulation", "HP:0033461": "Elevated circulating 3-hydroxylinoleylcarnitine concentration", "HP:0033462": "Elevated circulating oleylcarnitine concentration", "HP:0033464": "Elevated circulating 3-hydroxypalmitoleylcarnitine concentration", "HP:0033465": "Elevated circulating tetradecanoylcarnitine concentration", "HP:0033466": "Weak grip", "HP:0033467": "Low 10-minute APGAR score", "HP:0033468": "10-minute APGAR score of 0", "HP:0033469": "10-minute APGAR score of 1", "HP:0033470": "10-minute APGAR score of 2", "HP:0033471": "10-minute APGAR score of 3", "HP:0033472": "10-minute APGAR score of 4", "HP:0033473": "10-minute APGAR score of 5", "HP:0033474": "10-minute APGAR score of 6", "HP:0033475": "Limited shoulder abduction", "HP:0033476": "Extractable nuclear antigen positivity", "HP:0033477": "Abnormal circulating lipoprotein lipase concentration", "HP:0033478": "Increased circulating lipoprotein lipase concentration", "HP:0033479": "Abnormal circulating bilirubin concentration", "HP:0033480": "Hypobilirubinemia", "HP:0033481": "Limited lateral neck flexion", "HP:0033482": "Limited shoulder flexion", "HP:0033483": "Podocyte infolding", "HP:0033484": "Elevated circulating linoleylcarnitine concentration", "HP:0033485": "Glomerular basement membrane disruption", "HP:0033486": "Abnormal glomerular basement membrane texture", "HP:0033487": "Glomerular basement membranes powdery deposit", "HP:0033488": "Glomerular endocapillary leukocyte hypercellularity", "HP:0033489": "Glomerular endocapillary neutrophil hypercellularity", "HP:0033490": "Glomerular endocapillary foam-cell hypercellularity", "HP:0033491": "Global mesangial sclerosis", "HP:0033492": "Podocyte cytoskeletal condensation", "HP:0033493": "Mesangial matrix expansion", "HP:0033494": "Glomerular basement membrane amyloid spicule", "HP:0033495": "Segmental glomerulosclerosis", "HP:0033496": "Perihilar segmental glomerulosclerosis", "HP:0033497": "Tip variant segmental glomerulosclerosis", "HP:0033498": "Segmental glomerulosclerosis away from the vascular and tubular poles", "HP:0033499": "Glomerular basement membrane electron dense deposits", "HP:0033500": "Subendothelial glomerular basement membrane electron dense deposits", "HP:0033501": "Subepithelial glomerular basement membrane electron dense deposits", "HP:0033502": "Abnormal esterified to free carnitine ratio", "HP:0033503": "Elevated CSF fumarate concentration", "HP:0033504": "Elevated circulating fumarate concentration", "HP:0033505": "Livedo reticularis", "HP:0033506": "Increased esterified to free carnitine ratio", "HP:0033507": "Decreased esterified to free carnitine ratio", "HP:0033508": "EBV meningitis", "HP:0033509": "EBV encephalitis", "HP:0033510": "Cutaneous horn", "HP:0033511": "Drug addiction", "HP:0033512": "Stimulant addiction", "HP:0033513": "Cocaine addiction", "HP:0033514": "Amphetamine addiction", "HP:0033515": "Opioid addiction", "HP:0033516": "Benzodiazepine addiction", "HP:0033517": "Heroin addiction", "HP:0033518": "Methylphenidate addiction", "HP:0033519": "Methamphetamine addiction", "HP:0033520": "Paradoxical embolism", "HP:0033521": "Nasal dryness", "HP:0033522": "Cerebral cavernous malformation", "HP:0033523": "Abnormal sperm principal piece morphology", "HP:0033524": "Abnormal sperm axoneme morphology", "HP:0033525": "Absent sperm axoneme central pair complex", "HP:0033526": "Limited ankle dorsiflexion", "HP:0033527": "Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio", "HP:0033528": "Abnormal cardiac output", "HP:0033529": "Abnormal cardiac index", "HP:0033530": "Increased cardiac index", "HP:0033531": "Decreased cardiac index", "HP:0033532": "Decreased cardiac output", "HP:0033533": "Increased cardiac output", "HP:0033534": "Increased circulating brain natriuretic peptide concentration", "HP:0033535": "Reduced platelet dense granules", "HP:0033536": "Reduced platelet alpha granules", "HP:0033537": "Mosaic pulmonary attenuation pattern", "HP:0033538": "Aortic annulus calcification", "HP:0033539": "Bilateral apical pulmonary fibrosis", "HP:0033540": "Reversible airflow obstruction", "HP:0033541": "Irreversible airflow obstruction", "HP:0033542": "Bronchial wall thickening", "HP:0033543": "Nicotine addiction", "HP:0033544": "Mesangial fibril deposition", "HP:0033545": "Mesangial fibrillary deposits", "HP:0033546": "Mesangial microfibril deposition", "HP:0033547": "Mesangial immunotactoid deposits", "HP:0033548": "Mesangial amyloid deposition", "HP:0033549": "Nodular mesangiosclerosis", "HP:0033550": "Necrotizing pulmonary granulomatosis", "HP:0033551": "Non-necrotizing pulmonary granulomatosis", "HP:0033552": "Chronic villitis", "HP:0033553": "Septic embolism", "HP:0033554": "Anti-Mi2 antibody positivity", "HP:0033555": "Anti-Ro/SS-A antibody positivity", "HP:0033556": "Anti-nucleoporin 62 antibody positivity", "HP:0033557": "Anti-proteinase 3 antibody positivity", "HP:0033558": "Anti-histone antibody positivity", "HP:0033559": "Anti-myeloperoxidase antibody positivity", "HP:0033560": "Anti-PM-Scl antibody positivity", "HP:0033561": "Anti-bactericidal/permeability-increasing protein antibody positivity", "HP:0033562": "Anti-glycoprotein-210 antibody positivity", "HP:0033563": "Anti-tissue transglutaminase antibody positivity", "HP:0033564": "Stasis dermatitis", "HP:0033565": "Anti-epidermal transglutaminase antibody positivity", "HP:0033566": "Abnormal ventricular axis", "HP:0033567": "Right axis deviation", "HP:0033568": "Left axis deviation", "HP:0033569": "Extreme axis deviation", "HP:0033570": "Indeterminate ventricular axis", "HP:0033571": "Peripheral lung neovascularity", "HP:0033572": "Anti-H1 antibody positivity", "HP:0033573": "Anti-H4 antibody positivity", "HP:0033574": "Anti-H3 antibody positivity", "HP:0033575": "Anti-H2A antibody positivity", "HP:0033576": "Anti-H2B antibody positivity", "HP:0033577": "In situ pulmonary artery thrombosis", "HP:0033578": "Pre-capillary pulmonary hypertension", "HP:0033579": "Decreased growth hormone responses to growth hormone-releasing hormone challenge", "HP:0033580": "Compound motor action potential abnormality", "HP:0033581": "Absent peripheral lymph nodes in presence of infection", "HP:0033582": "Pulmonary interstitial lymphocyte infiltration", "HP:0033583": "Follicular bronchiolitis", "HP:0033584": "Nonspecific interstitial pneumonia", "HP:0033585": "Fibrotic non-specific interstitial pneumonia", "HP:0033586": "Cellular non-specific interstitial pneumonia", "HP:0033587": "Vulvar abscess", "HP:0033588": "Labial adhesion", "HP:0033589": "Flatulence", "HP:0033590": "Inguinal abscess", "HP:0033591": "Staghorn calculus", "HP:0033592": "Anti-H3-H4 antibody positivity", "HP:0033593": "Anti-H2A-H2B antibody positivity", "HP:0033594": "Elevated urinary 7-biopterin level", "HP:0033595": "Elevated circulating globotriaosylceramide concentration", "HP:0033596": "Elevated urinary 3-methylcrotonylglycine level", "HP:0033597": "Decreased mucosal sucrase-isomaltase activity", "HP:0033598": "Fibrillar glomerular subepithelial deposits", "HP:0033599": "Glomerular amyloid subepithelial deposits", "HP:0033600": "Fibrillary glomerular subepithelial deposits", "HP:0033601": "Glomerular subepithelial immune-complex deposits", "HP:0033602": "Glomerular hyaline subepithelial deposits", "HP:0033603": "Glomerular subepithelial deposits", "HP:0033604": "Glomerular capillary wire loop deposits", "HP:0033605": "Pustular rash", "HP:0033606": "Bone marrow maturation arrest", "HP:0033607": "Bone marrow arrest at the promyelocytic stage", "HP:0033608": "Pulmonary nodule", "HP:0033609": "Solid pulmonary nodule", "HP:0033610": "Subsolid pulmonary nodule", "HP:0033611": "Part-solid pulmonary nodule", "HP:0033612": "Pure ground-glass pulmonary nodule", "HP:0033613": "Perifissural pulmonary nodule", "HP:0033614": "Tracheal bronchus", "HP:0033615": "Displaced tracheal bronchus", "HP:0033616": "Accessory cardiac bronchus", "HP:0033617": "Supernumerary tracheal bronchus", "HP:0033618": "Displaced lobar tracheal bronchus", "HP:0033619": "Typical perifissural nodule", "HP:0033620": "Atypical perifissural nodule", "HP:0033621": "Bronchial diverticula", "HP:0033622": "Migratory erythematous plaque", "HP:0033623": "Birth history", "HP:0033624": "History of congenital CMV infection", "HP:0033625": "Emotional insecurity", "HP:0033626": "Increased non-HDL cholesterol concentration", "HP:0033627": "Increased urine harderoporphyrin level", "HP:0033628": "Bowel irritability", "HP:0033629": "IgG4 autoimmune antibody positivity", "HP:0033630": "Brain fog", "HP:0033631": "Spondylitis", "HP:0033632": "Abnormal alveolar volume", "HP:0033633": "Decreased alveolar volume", "HP:0033634": "Increased alveolar volume", "HP:0033635": "Post-capillary pulmonary hypertension", "HP:0033636": "Combined pre- and post-capillary pulmonary hypertension", "HP:0033637": "Anti-endomysial antibody positivity", "HP:0033638": "Intralobular septal thickening", "HP:0033639": "Septic pulmonary embolism", "HP:0033640": "Acetabular erosions", "HP:0033641": "Aortic valve leaflet calcification", "HP:0033642": "Mitral valve leaflet calcification", "HP:0033643": "Increased circulating very long-chain fatty acid concentration", "HP:0033644": "Elevated circulating erythropoietin concentration", "HP:0033645": "Midline brainstem cleft", "HP:0033646": "Absent hippocampal commissure", "HP:0033647": "Silhouette sign", "HP:0033648": "Pulmonary pseudocavity", "HP:0033649": "Paraseptal emphysema", "HP:0033650": "Pulmonary parenchymal band", "HP:0033651": "Pulmonary mycetoma", "HP:0033652": "Broncholith", "HP:0033653": "Bronchocele", "HP:0033654": "Beaded septum sign", "HP:0033655": "Pulmonary cavity", "HP:0033656": "Juxtaphrenic peak", "HP:0033657": "Linear atelectasis", "HP:0033658": "Rounded atelectasis", "HP:0033660": "Hand paresthesia", "HP:0033661": "Air crescent", "HP:0033662": "Air bronchogram", "HP:0033663": "Air trapping", "HP:0033664": "Ganglioglioma", "HP:0033665": "Diminished health-related quality of life", "HP:0033666": "Diminished physical functioning", "HP:0033667": "Diminished mental health", "HP:0033668": "Abnormal amygdala morphology", "HP:0033669": "Enlarged amygdala", "HP:0033670": "Organizing pneumonia", "HP:0033671": "Pulmonary oligemia", "HP:0033672": "Positive carpal Tinel sign", "HP:0033673": "Positive Phalen test", "HP:0033674": "Pulmonary blood flow redistribution", "HP:0033675": "Frailty", "HP:0033676": "Posttraumatic stress symptom", "HP:0033677": "Acute respiratory distress syndrome", "HP:0033678": "Acute coronary syndrome", "HP:0033679": "Abnormal red nucleus morphology", "HP:0033680": "Pilocytic astrocytoma", "HP:0033681": "Oligodendroglioma", "HP:0033682": "Pleomorphic xanthoastrocytoma", "HP:0033683": "Jaw hyperreflexia", "HP:0033684": "Abnormal muscle fiber-type distribution", "HP:0033685": "Fiber type grouping", "HP:0033686": "Mitochondrial hypertrophy", "HP:0033687": "Short term memory impairment", "HP:0033688": "Long term memory impairment", "HP:0033689": "Anterograde memory impairment", "HP:0033690": "Retrograde memory impairment", "HP:0033691": "Procedural memory loss", "HP:0033692": "Declarative memory loss", "HP:0033693": "Phantosmia", "HP:0033694": "Tactile hallucination", "HP:0033695": "Occupational disability", "HP:0033696": "Pseudo-chilblain", "HP:0033697": "Vesicular eruption", "HP:0033698": "Monomorphic vesicular eruption", "HP:0033699": "Polymorphic vesicular eruption", "HP:0033700": "Papulovesicular eruption", "HP:0033701": "Cortical sclerosis of the iliac wing", "HP:0033702": "Subpleural curvilinear line", "HP:0033703": "Dysembryoplastic neuroepithelial tumor", "HP:0033704": "Elevated urinary homogentisic acid", "HP:0033705": "Tearfulness", "HP:0033706": "Progressive massive fibrosis", "HP:0033707": "Perioral hyperkeratosis", "HP:0033708": "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity", "HP:0033709": "Increased sputum production", "HP:0033710": "Rest dyspnea", "HP:0033711": "Pulmonary interstitial thickening", "HP:0033712": "Repeated implantation failure", "HP:0033713": "Anti-signal recognition particle antibody positivity", "HP:0033714": "Multiple meningiomas", "HP:0033715": "Hippocampal sclerosis", "HP:0033716": "EEG with frontal epileptiform discharges", "HP:0033717": "EEG with temporal epileptiform discharges", "HP:0033718": "EEG with central epileptiform discharges", "HP:0033719": "EEG with parietal epileptiform discharges", "HP:0033720": "EEG with occipital epileptiform discharges", "HP:0033721": "EEG with centrotemporal epileptiform discharges", "HP:0033722": "Autonomic epileptic aura", "HP:0033723": "Abnormal cerebral venous sinus morphology", "HP:0033724": "Cerebral venous sinus thrombosis", "HP:0033725": "Thin corpus callosum", "HP:0033726": "Lupus nephritis", "HP:0033727": "Diffuse lupus nephritis", "HP:0033728": "Mesangial proliferative lupus nephritis", "HP:0033729": "Minimal mesangial lupus nephritis", "HP:0033730": "Membranous lupus nephritis", "HP:0033731": "Focal lupus nephritis", "HP:0033732": "Advanced sclerotic lupus nephritis", "HP:0033733": "Low-grade vesicoureteral reflux", "HP:0033734": "High-grade vesicoureteral reflux", "HP:0033735": "Grade I vesicoureteral reflux", "HP:0033736": "Grade II vesicoureteral reflux", "HP:0033737": "Grade III vesicoureteral reflux", "HP:0033738": "Primary vesicoureteral reflux", "HP:0033739": "Secondary vesicoureteral reflux", "HP:0033740": "Grade V vesicoureteral reflux", "HP:0033741": "Grade IV vesicoureteral reflux", "HP:0033742": "Intrarenal reflux", "HP:0033743": "Macular agenesis", "HP:0033744": "Global cerebellar dysplasia", "HP:0033745": "Dysplasia of the superior cerebellar vermis", "HP:0033746": "Intrascapular pain", "HP:0033747": "Abnormal exteroceptive sensation", "HP:0033748": "Hypoesthesia", "HP:0033749": "Abnormal functional residual capacity", "HP:0033750": "Reduced functional residual capacity", "HP:0033751": "Elevated functional residual capacity", "HP:0033752": "Abnormal residual volume", "HP:0033753": "Reduced residual volume", "HP:0033754": "Abnormal left ventricular end-diastolic volume", "HP:0033755": "Increased left ventricular end-diastolic volume", "HP:0033756": "Decreased left ventricular end-diastolic volume", "HP:0033757": "Pancreatic steatosis", "HP:0033758": "Labial abscess", "HP:0033759": "Impaired renal tubular reabsorption of magnesium", "HP:0033760": "Decreased maximal oxygen uptake", "HP:0033761": "Xanthogranulomatous pyelonephritis", "HP:0033762": "Middle cerebral artery stroke", "HP:0033763": "Death in adulthood", "HP:0033764": "Death in middle age", "HP:0033765": "Death in late adulthood", "HP:0033766": "Polymelia", "HP:0033767": "Abnormal single motor unit action potential", "HP:0033768": "Penile thrush", "HP:0033769": "Fundic gland polyposis", "HP:0033770": "Gastric adenocarcinoma", "HP:0033771": "Pleuritic chest pain", "HP:0033772": "Abnormal RV/TLC ratio", "HP:0033773": "Decreased RV/TLC ratio", "HP:0033774": "Impaired renal tubular reabsorption of uric acid", "HP:0033775": "Pulmonary imaging sign", "HP:0033776": "Enamel pearls", "HP:0033777": "Supernumerary cusp", "HP:0033778": "Leung cusp", "HP:0033779": "Barrel-shaped tooth", "HP:0033780": "Bulbous tooth", "HP:0033781": "Tapered tooth", "HP:0033782": "Semilunar tooth", "HP:0033783": "Molar incisor malformation", "HP:0033784": "Dentin dysplasia", "HP:0033785": "Enamel agenesis", "HP:0033786": "Hypomature enamel", "HP:0033787": "Cementum hypoplasia", "HP:0033788": "Cementum overgrowth", "HP:0033789": "Triggered by cheese ingestion", "HP:0033790": "Thistle tube shaped pulp", "HP:0033791": "Tooth ankylosis", "HP:0033792": "Cross bite", "HP:0033793": "Triggered by food ingestion", "HP:0033794": "Acral overgrowth", "HP:0033795": "Growth without growth hormone", "HP:0033796": "Abnormal leukocyte physiology", "HP:0033797": "Leukocyte migration defect", "HP:0033798": "Impaired leukocyte adhesion", "HP:0033799": "Abnormal circulating sex hormone concentration", "HP:0033800": "Blistering by anatomical location", "HP:0033801": "Blistering by histological location", "HP:0033802": "Intra-epidermal blistering", "HP:0033803": "Sub-lamina densa cleavage", "HP:0033804": "Subepidermal blistering", "HP:0033805": "Non-necrotizing granuloma", "HP:0033806": "Abnormal epidermis stratum granulosum morphology", "HP:0033807": "Absent keratohyalin granules", "HP:0033808": "Spermatocele", "HP:0033809": "Increased circulating 17 hydroxypregnenolone concentration", "HP:0033810": "Decreased circulating dihydrotestosterone concentration", "HP:0033811": "Abnormal circulating androstenedione concentration", "HP:0033812": "Decreased circulating androstenedione concentration", "HP:0033813": "Perilobular", "HP:0033814": "Paraseptal", "HP:0033815": "Bronchocentric", "HP:0033816": "Centrilobular", "HP:0033817": "Miliary", "HP:0033818": "Reticular", "HP:0033819": "Perilymphatic", "HP:0033820": "Apical", "HP:0033821": "Pulmonary mass", "HP:0033822": "Mass on thoracic imaging", "HP:0033823": "Mediastinal mass", "HP:0033824": "Pleural mass", "HP:0033825": "Superior mediastinal mass", "HP:0033826": "Inferior mediastinal mass", "HP:0033827": "Anterior mediastinal mass", "HP:0033828": "Middle mediastinal mass", "HP:0033829": "Posterior mediastinal mass", "HP:0033830": "Hyperdense pulmonary mass", "HP:0033831": "Cavitating pulmonary mass", "HP:0033832": "Livedo", "HP:0033833": "Elevated circulating soluble CD25 concentration", "HP:0033834": "Malaise", "HP:0033835": "Abnormal renal vascular morphology", "HP:0033836": "Abnormal intrarenal artery morphology", "HP:0033837": "Abnormal arcuate artery morphology", "HP:0033838": "Dysphoria", "HP:0033839": "Testicular pain", "HP:0033840": "Postmenopausal bleeding", "HP:0033841": "Ocular pruritus", "HP:0033842": "Early satiety", "HP:0033843": "Postprandial fullness", "HP:0033844": "Tachyphrenia", "HP:0033845": "Sense of impending doom", "HP:0033846": "Spinal hypomyelination", "HP:0033847": "Phantageusia", "HP:0033848": "Receptive aphasia", "HP:0033849": "Bilingual aphasia", "HP:0033850": "Coldness", "HP:0033851": "Oculomotor synkinesis", "HP:0033852": "Abnormal intrarenal vein morphology", "HP:0033853": "Abnormal arcuate vein morphology", "HP:0033854": "Abnormal interlobular vein morphology", "HP:0033855": "Abnormal interlobular vein lumen morphology", "HP:0033856": "Cholesterol emboli within interlobular vein lumen", "HP:0033857": "Intraluminal thrombi within interlobular veins", "HP:0033858": "Organized thrombi within interlobular vein lumen", "HP:0033859": "Abnormal peritubular capillary morphology", "HP:0033860": "Abnormal cortical peritubular capillary morphology", "HP:0033861": "Multilamellation of cortical peritubular capillary basement membranes", "HP:0033862": "Cortical peritubular capillaritis", "HP:0033863": "Abnormal cortical peritubular capillary lumen morphology", "HP:0033864": "Abnormal medullary peritubular capillary morphology", "HP:0033865": "Medullary peritubular capillaritis", "HP:0033866": "Medullary peritubular capillary erythrocyte congestion", "HP:0033867": "Multilamellation of medullary peritubular capillary basement membranes", "HP:0033868": "Abnormal medullary peritubular capillary lumen morphology", "HP:0033869": "Medullary peritubular capillary lumen cholesterol emboli", "HP:0033870": "Medullary peritubular capillary intraluminal thrombi", "HP:0033871": "Medullary peritubular capillary lumen organized thrombi", "HP:0033872": "Cortical peritubular capillary lumen cholesterol emboli", "HP:0033873": "Cortical peritubular capillary intraluminal thrombi", "HP:0033874": "Cortical peritubular capillary lumen organized thrombi", "HP:0033875": "Abnormal arcuate vein lumen morphology", "HP:0033876": "Arcuate vein lumen cholesterol emboli", "HP:0033877": "Arcuate vein intraluminal thrombi", "HP:0033878": "Arcuate vein lumen organized thrombi", "HP:0033879": "Abnormal arcuate vein intima/media morphology", "HP:0033880": "Arcuate vein intimal mucoid edema", "HP:0033881": "Arcuate vein intimal/medial myxomatous degeneration", "HP:0033882": "Arcuate vein intima/medial amyloidosis", "HP:0033883": "Abnormal cortical radial artery morphology", "HP:0033884": "Abnormal cortical radial artery lumen morphology", "HP:0033885": "Cortical radial artery lumen cholesterol emboli", "HP:0033886": "Abnormal arcuate artery intima/media morphology", "HP:0033887": "Cortical radial artery intimal/medial amyloidosis", "HP:0033888": "Abnormal cortical radial artery intima/media morphology", "HP:0033889": "Abnormal renal arteriole morphology", "HP:0033890": "Abnormal renal arteriole lumen morphology", "HP:0033891": "Renal arteriolar lumen cholesterol emboli", "HP:0033892": "Abnormal renal arteriole intima/media morphology", "HP:0033893": "Renal arteriolar lumen organized thrombi", "HP:0033894": "Renal arteriolar intraluminal thrombi", "HP:0033895": "Abnormal renal arteriole endothelium morphology", "HP:0033896": "Abnormal arcuate artery lumen morphology", "HP:0033897": "Arcuate artery lumen cholesterol emboli", "HP:0033898": "Arcuate artery intraluminal thrombi", "HP:0033899": "Arcuate artery lumen organized thrombi", "HP:0033900": "Renal arteriole intima/media amyloidosis", "HP:0033901": "Abnormal arcuate artery endothelium morphology", "HP:0033902": "Arcuate artery endotheliosis", "HP:0033903": "Arcuate artery endoarterial hypercellularity", "HP:0033904": "Renal arteriole intima/media hyalinosis", "HP:0033905": "Arcuate artery intima/media arteriosclerosis", "HP:0033906": "Renal intimal/medial arteriolitis", "HP:0033907": "Renal arteriole intima/media arteriolosclerosis", "HP:0033908": "Renal arteriole medial atrophy", "HP:0033909": "Arcuate vein medial hypertrophy", "HP:0033910": "Arcuate vein medial atrophy", "HP:0033911": "Cortical radial artery medial hypertrophy", "HP:0033912": "Cortical radial artery medial atrophy", "HP:0033913": "Cortical radial artery medial/intimal arteriitis", "HP:0033914": "Arcuate artery intima/media amyloidosis", "HP:0033915": "Arcuate artery intimal mucoid edema", "HP:0033916": "Medial/intimal arcuate venosclerosis", "HP:0033917": "Arcuate intimal/medial venulitis", "HP:0033918": "Renal arteriole medial hypertrophy", "HP:0033919": "Medial/intimal arcuate venulitis", "HP:0033920": "Renal arteriole intima/media storage material accumulation", "HP:0033921": "Renal arteriole endoarterial hypercellularity", "HP:0033922": "Renal arteriole leukocytic endoarterial hypercellularity", "HP:0033923": "Renal arteriole foam cell endoarterial hypercellularity", "HP:0033924": "Renal arteriole neutrophil endoarterial hypercellularity", "HP:0033925": "Renal arteriole lymphocyte endoarterial hypercellularity", "HP:0033926": "Renal arteriole intimal/medial multilamellation", "HP:0033927": "Arcuate artery endoarterial leukocyte hypercellularity", "HP:0033928": "Arcuate artery endoarterial foam cell hypercellularity", "HP:0033929": "Arcuate artery endoarterial neutrophil hypercellularity", "HP:0033930": "Arcuate artery endoarterial lymphocyte hypercellularity", "HP:0033931": "Arcuate artery intima/media necrosis", "HP:0033932": "Arcuate artery intima/media coagulative necrosis", "HP:0033933": "Arcuate artery intima/media liquefactive necrosis", "HP:0033934": "Arcuate vein intimal/medial storage material accumulation", "HP:0033935": "Cortical radial artery intima/media necrosis", "HP:0033936": "Cortical radial artery intima/media liquefactive necrosis", "HP:0033937": "Cortical radial artery intima/media coagulative necrosis", "HP:0033938": "Renal arteriole intima/media necrosis", "HP:0033939": "Renal arteriole intima/media liquefactive necrosis", "HP:0033940": "Renal arteriole intima/media coagulative necrosis", "HP:0033941": "Granulomatous arteriolitis of the arteriolar intima/media", "HP:0033942": "Arcuate vein medial/intimal necrosis", "HP:0033943": "Arcuate vein medial/intimal coagulative necrosis", "HP:0033944": "Arcuate vein medial/intimal liquefactive necrosis", "HP:0033945": "Arcuate intimal/medial granulomatous venulitis", "HP:0033946": "Arcuate vein intima/media crystal accumulation", "HP:0033947": "Renal arteriole intima/media crystal accumulation", "HP:0033948": "Arcuate artery intima/media arteriitis", "HP:0033949": "Arcuate artery intima/media granulomatous arteriitis", "HP:0033950": "Cortical radial artery intraluminal thrombi", "HP:0033951": "Cortical radial artery intraluminal organized thrombi", "HP:0033952": "Abnormal cortical radial artery endothelium morphology", "HP:0033953": "Cortical radial artery endotheliosis", "HP:0033954": "Cortical radial artery hypercellularity", "HP:0033955": "Cortical radial artery leukocyte hypercellularity", "HP:0033956": "Cortical radial artery lymphocyte hypercellularity", "HP:0033957": "Cortical radial artery neutrophil hypercellularity", "HP:0033958": "Cortical radial artery foam cell hypercellularity", "HP:0033959": "Cortical radial artery intima/media arteriosclerosis", "HP:0033960": "Cortical radial artery intimal mucoid edema", "HP:0033961": "Cortical radial artery intima/media multilamellation", "HP:0033962": "Cortical radial artery medial/intimal granulomatous arteriitis", "HP:0033963": "Abnormal interlobular vein intima/media morphology", "HP:0033964": "Interlobular intima/media venosclerosis", "HP:0033965": "Interlobular vein intimal mucoid edema", "HP:0033966": "Interlobular vein intima/media amyloidosis", "HP:0033967": "Interlobular vein intima/media venulitis", "HP:0033968": "Interlobular vein intima/media granulomatous venulitis", "HP:0033969": "Interlobular vein intima/media necrosis", "HP:0033970": "Interlobular vein intima/media liquefactive necrosis", "HP:0033971": "Interlobular vein intima/media coagulative necrosis", "HP:0033972": "Interlobular vein medial atrophy", "HP:0033973": "Interlobular vein medial hypertrophy", "HP:0033974": "Interlobular vein intima/media multilamellation", "HP:0033975": "Absent second fingernail", "HP:0033976": "Volar fingernail", "HP:0033977": "Talar aplasia", "HP:0033978": "Reduced beta-hexosaminidase activity", "HP:0033979": "Excessive dynamic airway collapse", "HP:0033980": "Paroxysmal tonic upgaze", "HP:0033981": "Vertebral artery tortuosity", "HP:0033982": "Celiac artery dissection", "HP:0033983": "Decreased circulating apolipoprotein C-II concentration", "HP:0033984": "Increased urinary 8-oxo-7,8-dihydroguanosine level", "HP:0033985": "Elongated femoral neck", "HP:0033986": "Tortuous lymphatic vessels", "HP:0033987": "Phosphaturic mesenchymal tumor", "HP:0033988": "Amygdala microinfarct", "HP:0033989": "Hippocampal microinfarct", "HP:0033990": "Cartilaginous tracheobronchomalacia", "HP:0033991": "Vasa previa", "HP:0033992": "Chronotropic incompetence", "HP:0033993": "Viral encephalitis", "HP:0033994": "Dependency on parenteral nutrition", "HP:0033995": "Microvillus inclusions", "HP:0033996": "Microvillar PAS-positive secretory granules", "HP:0033997": "Perinuclear cardiomyocyte vacuolization", "HP:0033998": "Single-lobed right lung", "HP:0033999": "Bronchial hemorrhage", "HP:0034000": "Tracheal hemorrhage", "HP:0034001": "Anti-Complement factor H antibody positivity", "HP:0034002": "Anti-phospholipase A2 receptor antibody positivity", "HP:0034003": "Broad medial eyebrow", "HP:0034004": "Parosmia", "HP:0034005": "Decreased dendritic spine number", "HP:0034006": "Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio", "HP:0034007": "Posterior atrophy of corpus callosum", "HP:0034008": "Opto-chiasmatic atrophy", "HP:0034009": "Pelvic lipomatosis", "HP:0034010": "Increased megakaryocyte colony forming unit count", "HP:0034011": "Reduced progressive sperm motility", "HP:0034012": "Palmoplantar hypohidrosis", "HP:0034013": "Curvilinear pericallosal lipoma", "HP:0034014": "Tubulonodular pericallosal lipoma", "HP:0034015": "Cavitating pulmonary nodule", "HP:0034016": "Anti-HLA antibody positivity", "HP:0034017": "Anti-class I HLA antibody positivity", "HP:0034018": "Anti-class II HLA antibody positivity", "HP:0034019": "Anti-HLA-A antibody positivity", "HP:0034020": "Anti-HLA-A IgG1 antibody positivity", "HP:0034021": "Anti-HLA-A IgG3 antibody positivity", "HP:0034022": "Anti-HLA-B antibody positivity", "HP:0034023": "Anti-HLA-B IgG1 antibody positivity", "HP:0034024": "Anti-HLA-B IgG3 antibody positivity", "HP:0034025": "Abnormal circulating GABA concentration", "HP:0034026": "Elevated circulating sacchoropine concentration", "HP:0034027": "Abnormal urinary non-proteinogenic amino acid level", "HP:0034028": "Saccharopinuria", "HP:0034029": "Hepatic foam cells", "HP:0034030": "Lip cyanosis", "HP:0034031": "Facial cyanosis", "HP:0034032": "Central cyanosis", "HP:0034033": "Peripheral cyanosis", "HP:0034034": "Differential cyanosis", "HP:0034035": "Pharyngeal exudate", "HP:0034036": "Pseudo-chilblains on toes", "HP:0034037": "Pseudo-chilblains on fingers", "HP:0034038": "Silent hypoxemia", "HP:0034039": "Ventricular couplet", "HP:0034040": "Bidirectional ventricular tachycardia", "HP:0034041": "Ventricular ectopy", "HP:0034042": "Dorsal hirsutism", "HP:0034043": "Increased fecal bile acid", "HP:0034044": "Trident pelvis", "HP:0034045": "Angulated muscle fibers", "HP:0034046": "Mandibular osteolysis", "HP:0034047": "Rib osteolysis", "HP:0034048": "Decreased circulating chenodeoxycholic acid concentration", "HP:0034049": "Elevated urinary prostaglandin E2 level", "HP:0034050": "Elevated urinary prostaglandin E2 metabolite level", "HP:0034051": "Hypoplastic anterior limbs of the internal capsule", "HP:0034052": "Impaired toe-walking ability", "HP:0034053": "Decreased acid ceramidase activity", "HP:0034054": "Probst bundles", "HP:0034055": "Anti-side-chain cleavage enzyme antibody positivity", "HP:0034056": "Increased fecal calprotectin level", "HP:0034057": "Fetal anomaly", "HP:0034058": "Abnormal fetal morphology", "HP:0034059": "Abnormal fetal physiology", "HP:0034060": "Triggered by fava bean ingestion", "HP:0034061": "Anti-steroid 17alpha-hydroxylase antibody positivity", "HP:0034062": "Anti-insulin antibody positivity", "HP:0034063": "Anti-islet antigen-2 antibody positivity", "HP:0034064": "Anti-salivary protein antibody positivity", "HP:0034065": "Anti-Zinc transporter 8 antibody positivity", "HP:0034066": "Anti-carbonic anhydrase VI antibody positivity", "HP:0034067": "Tonofilament clumping", "HP:0034068": "Anti-plasminogen binding peptide antibody positivity", "HP:0034069": "Anti-parotid secretory protein antibody positivity", "HP:0034070": "Anti-enterocyte antibody positivity", "HP:0034071": "Anti-21-hydroxylase antibody positivity", "HP:0034072": "Abnormal fetal long-bone echogenicity", "HP:0034073": "Reduced fetal long bone echogenicity", "HP:0034074": "Increased fetal long bone echogenicity", "HP:0034075": "Decreased circulating apolipoprotein B concentration", "HP:0034076": "Anti-ribosome Po antibody positivity", "HP:0034077": "Anti-complement component C1q antibody positivity", "HP:0034078": "Anti-centromere protein A antibody positivity", "HP:0034079": "Anti-centromere protein B antibody positivity", "HP:0034080": "Anti-U3 RNP antibody positivity", "HP:0034081": "Anti-Th/To antibody positivity", "HP:0034082": "Anti-bicaudal D2 antibody positivity", "HP:0034083": "Anti-nucleolus-organizing region antibody positivity", "HP:0034084": "Anti-phosphatidyl ethanolamine antibody positivity", "HP:0034085": "Anti-PM-Scl100 antibody positivity", "HP:0034086": "Anti-PM-Scl75 antibody positivity", "HP:0034087": "Anti-U11/U12 RNP antibody positivity", "HP:0034088": "Anti-Ku antibody positivity", "HP:0034089": "Anti-B23 antibody positivity", "HP:0034090": "Anti-RuvBL1/2 antibody positivity", "HP:0034091": "Anti-platelet derived growth factor receptor", "HP:0034092": "Anti-cyclic citrullinated peptide antibody positivity", "HP:0034093": "Anti-Ro52/TRIM21 antibody positivity", "HP:0034094": "Anti-angiotensin receptor type-1 antibody positivity", "HP:0034095": "Anti-endothelin-1 type A receptor antibody positivity", "HP:0034096": "Anti-phosphatidic acid antibody positivity", "HP:0034097": "Anti-phosphatidyl choline antibody positivity", "HP:0034098": "Anti-phosphatidyl glycerol antibody positivity", "HP:0034099": "Anti-phosphatidyl inositol antibody positivity", "HP:0034100": "Anti-phosphatidyl serine antibody positivity", "HP:0034101": "Anti-annexin-V antibody positivity", "HP:0034102": "Anti-sphingolipid antibody positivity", "HP:0034103": "Anti-GM1 antibody positivity", "HP:0034104": "Anti-neutrophil elastase antibody positivity", "HP:0034105": "Anti-transcription intermediary factor-1gamma antibody positivity", "HP:0034106": "Anti-Su antigen/argonaute 2 antibody positivity", "HP:0034107": "Anti-p53 antibody positivity", "HP:0034108": "Anti-Y-box protein-1 antibody positivity", "HP:0034109": "Anti-GW182 antibody positivity", "HP:0034110": "Anti-Gerbich phenotype 1 antibody positivity", "HP:0034111": "Anti-MIT3 antibody positivity", "HP:0034112": "Anti-GM1 IgG antibody positivity", "HP:0034114": "Anti-hexokinase-1 antibody positivity", "HP:0034115": "Anti-Kelch like protein 12 antibody positivity", "HP:0034116": "Anti-thyrotropin receptor antibody", "HP:0034117": "Anti-angiotensin-converting enzyme 2 antibody positivity", "HP:0034118": "Anti-GM1 IgM antibody positivity", "HP:0034119": "Anti-GD1a IgG antibody positivity", "HP:0034120": "Anti-GD1a IgM antibody positivity", "HP:0034121": "Anti-GD1a antibody positivity", "HP:0034122": "Anti-GQ1b antibody positivity", "HP:0034123": "Anti-GQ1b IgM antibody positivity", "HP:0034124": "Anti-GD1b antibody positivity", "HP:0034125": "Anti-GD1b IgM antibody positivity", "HP:0034126": "Anti-GD1b IgG antibody positivity", "HP:0034127": "Anti-GQ1b IgG antibody positivity", "HP:0034128": "Anti-GT1a antibody positivity", "HP:0034129": "Anti-GT1a IgM antibody positivity", "HP:0034130": "Anti-GT1a IgG antibody positivity", "HP:0034131": "Anti-GT1b antibody positivity", "HP:0034132": "Anti-GM2 antibody positivity", "HP:0034133": "Anti-GM3 antibody positivity", "HP:0034134": "Anti-GM4 antibody positivity", "HP:0034135": "Anti-neurofascin-155 antibody positivity", "HP:0034136": "Anti-neurofascin 186 antibody positivity", "HP:0034137": "Anti-contactin-1 antibody positivity", "HP:0034138": "Anti-contactin-associated protein 1 antibody positivity", "HP:0034139": "Anti-SUMO-activating enzyme antibody positivity", "HP:0034140": "Anti-SUMO-activating enzyme subunit 1 antibody positivity", "HP:0034141": "Anti-SUMO-activating enzyme subunit 2 antibody positivity", "HP:0034142": "Anti-nuclear matrix protein-2 antibody positivity", "HP:0034143": "Anti-threonyl-tRNA synthetase antibody positivity", "HP:0034144": "Anti-hY-RNA complex antibody positivity", "HP:0034145": "Anti-alanyl-tRNA synthetase antibody positivity", "HP:0034146": "Anti-glycyl tRNA-synthetase antibody positivity", "HP:0034147": "Anti-aminoacyl-tRNA synthetase antibody positivity", "HP:0034148": "Anti-isoleucyl tRNA-synthetase antibody positivity", "HP:0034149": "Anti-phenylalanyl tRNA synthetase antibody positivity", "HP:0034150": "Anti-tyrosyl-tRNA synthetase antibody positivity", "HP:0034151": "Anti-asparaginyl-tRNA synthetase antibody positivity", "HP:0034152": "Anti-histidyl tRNA synthetase antibody positivity", "HP:0034153": "Anti-cytosolic-5-nucleotidase-1A antibody positivity", "HP:0034154": "Anti-Ki antibody positivity", "HP:0034155": "Anti-sp100 antibody positivity", "HP:0034156": "Anti-beta-2-Glycoprotein I IgG antibody positivity", "HP:0034157": "Anti-beta-2-Glycoprotein I IgM antibody positivity", "HP:0034158": "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity", "HP:0034159": "Paget disease of bone", "HP:0034160": "Abnormal circulating interleukin 9 concentration", "HP:0034161": "Reduced circulating interleukin 9 concentration", "HP:0034162": "Abnormal circulating interleukin 10 concentration", "HP:0034163": "Reduced circulating interleukin 10 concentration", "HP:0034164": "Abnormal circulating interleukin 21 concentration", "HP:0034165": "Reduced circulating interleukin 21 concentration", "HP:0034166": "Increased circulating interleukin 21 concentration", "HP:0034167": "Abnormal circulating interleukin 22 concentration", "HP:0034168": "Reduced circulating interleukin 22 concentration", "HP:0034169": "Increased circulating interleukin 22 concentration", "HP:0034170": "Abnormal circulating interleukin 23 concentration", "HP:0034171": "Reduced circulating interleukin 23 concentration", "HP:0034172": "Increased circulating interleukin 23 concentration", "HP:0034173": "Abnormal circulating interleukin 27 concentration", "HP:0034174": "Reduced circulating interleukin 27 concentration", "HP:0034175": "Increased circulating interleukin 27 concentration", "HP:0034176": "Abnormal circulating interleukin 17A concentration", "HP:0034177": "Reduced circulating interleukin 17A concentration", "HP:0034178": "Increased circulating interleukin 17A concentration", "HP:0034179": "Vertebral artery aneurysm", "HP:0034180": "Fusion of the caudate and putamen", "HP:0034181": "Aplasia/Hypoplasia of the liver", "HP:0034182": "Segmental hypoplasia of liver", "HP:0034183": "Spastic triplegia", "HP:0034184": "Increased insulin like growth factor binding protein acid labile subunit concentration", "HP:0034185": "Median pseudocleft lip", "HP:0034186": "Patella alta", "HP:0034187": "Clavicular pseudarthrosis", "HP:0034188": "Midline liver", "HP:0034189": "Anti-thyroid-stimulating hormone receptor antibody positivity", "HP:0034190": "Abnormal fetal cardiovascular physiology", "HP:0034191": "Elevated fetal middle cerebral artery peak systolic velocity", "HP:0034192": "Pulmonary thromboembolism", "HP:0034193": "Stratum basale cleavage", "HP:0034194": "Suprabasal cleavage", "HP:0034195": "Triggered by muscle relaxant", "HP:0034196": "Ductus venosus agenesis", "HP:0034197": "Third trimester onset", "HP:0034198": "Second trimester onset", "HP:0034199": "Late first trimester onset", "HP:0034200": "Abnormal CSF homovanillic acid concentration", "HP:0034201": "Increased CSF homovanillic acid concentration", "HP:0034202": "Abnormal iduronate sulfatase concentration", "HP:0034203": "Decreased iduronate sulfatase level", "HP:0034204": "Decreased circulating C1-esterase inhibitor concentration", "HP:0034205": "Iniencephaly", "HP:0034206": "Abnormal fetal central nervous system morphology", "HP:0034207": "Abnormal fetal gastrointestinal system morphology", "HP:0034208": "Fetal intracranial hemorrhage", "HP:0034209": "Fetal subependymal hemorrhage", "HP:0034210": "Fetal intraventricular hemorrhage", "HP:0034211": "Fetal cerebral parenchymal hemorrhage", "HP:0034212": "Fetal extra-axial hemorrhage", "HP:0034213": "Fetal posterior fossa hemorrhage", "HP:0034214": "Fetal intraventricular hemorrhage without ventriculomegaly", "HP:0034215": "Fetal cerebellar hemisphere hemorrhage", "HP:0034216": "Fetal cerebellar vermis hemorrhage", "HP:0034217": "Sonographic non-visualized fetal bladder", "HP:0034218": "Fetal intraventricular hemorrhage with ventriculomegaly", "HP:0034219": "Fetal intraventricular hemorrhage with periventricular hemorrhage", "HP:0034220": "Temporal lobe megalencephaly", "HP:0034221": "Abnormal temporal lobe morphology", "HP:0034222": "Temporal lobe dysplasia", "HP:0034223": "Elevated umbilical artery pulsatility", "HP:0034224": "Absent end-diastolic umbilical artery flow", "HP:0034225": "Reversed end-diastolic umbilical artery flow", "HP:0034226": "Champagne cork sign", "HP:0034227": "Aortic isthmus hypoplasia", "HP:0034228": "Proximal aortic arch hypoplasia", "HP:0034229": "Distal aortic arch hypoplasia", "HP:0034230": "Inferior crossed fused renal ectopia", "HP:0034231": "Sigmoid kidney", "HP:0034232": "Unilateral lump kidney", "HP:0034233": "Disc kidney", "HP:0034234": "L-shaped kidney", "HP:0034235": "Superior crossed-fused renal ectopia", "HP:0034236": "Apnea of prematurity", "HP:0034237": "Open neural tube defect", "HP:0034238": "Closed neural tube defect", "HP:0034239": "Renal vein thrombosis", "HP:0034240": "Fetal neck mass", "HP:0034241": "Prenatal death", "HP:0034242": "Abnormal fetal genitourinary system morphology", "HP:0034243": "Abnormal fetal pulmonary morphology", "HP:0034244": "Gastric pseudomass", "HP:0034245": "Fetal head anomaly", "HP:0034246": "Fetal scalp mass", "HP:0034247": "Fetal lower urinary tract obstruction", "HP:0034248": "Increased fetal lens echogenicity", "HP:0034249": "Severe influenza infection", "HP:0034250": "Fetal nuchal edema", "HP:0034251": "Abnormal corneal reflex", "HP:0034252": "Absent corneal reflex", "HP:0034253": "Eosinophil nuclear hypersegmentation", "HP:0034254": "Face of the giant panda sign", "HP:0034255": "Colovesical fistula", "HP:0034256": "Absent dermoepidermal hemidesmosomes", "HP:0034257": "C4 nephritic factor positivity", "HP:0034258": "Aplasia/Hypoplasia of the midbrain", "HP:0034259": "Hypoplasia of the midbrain", "HP:0034260": "Aplastic zygomatic arch", "HP:0034261": "Aplasia/Hypoplasia of facial bones", "HP:0034262": "Absent lanugo", "HP:0034263": "Abnormal vaginal bleeding", "HP:0034264": "Postcoital vaginal bleeding", "HP:0034265": "Mastalgia", "HP:0034266": "Vaginal bleeding during sex", "HP:0034267": "Pelvic pain", "HP:0034268": "Abnormal vaginal physiology", "HP:0034269": "Abnormal vaginal discharge", "HP:0034270": "Serrated incisors", "HP:0034271": "Copper beaten skull", "HP:0034272": "Perifoveal hypoautofluorescence", "HP:0034273": "Premature sagging cheeks", "HP:0034274": "Gastrointestinal ulcer", "HP:0034275": "Verrucous epidermal nevus", "HP:0034276": "Elevated circulating thymidine concentration", "HP:0034277": "Elevated circulating deoxyuridine concentration", "HP:0034278": "Multinucleated erythroblast", "HP:0034279": "2,8-dihydroxyadenine crystalluria", "HP:0034280": "Target cells", "HP:0034281": "Phalangeal cone-shaped epiphyses", "HP:0034282": "Subcutaneous ossification", "HP:0034283": "Increased fecal protoporphyrin concentration", "HP:0034284": "Recurrent gingivitis", "HP:0034285": "Enteroviral encephalitis", "HP:0034286": "Pneumocystis carinii pneumonia", "HP:0034287": "Afibrinogenemia", "HP:0034288": "Elevated circulating reverse T3 concentration", "HP:0034289": "Elevated circulating rT3/T3 ratio", "HP:0034290": "Elevated circulating tiglylglycine concentration", "HP:0034291": "Elevated circulating creatine concentration", "HP:0034292": "Reduced circulating creatine concentration", "HP:0034293": "Temporal lobe calcification", "HP:0034294": "Ductal bile plugs", "HP:0034295": "Reduced cerebral white matter volume", "HP:0034296": "Elevated urine 3,5,6-trichloro-2-pyridinol level", "HP:0034297": "Elevated circulating tetracosanoic acid concentration", "HP:0034298": "Elevated circulating hexacosanoic acid concentration", "HP:0034299": "Sertoli cell-only phenotype", "HP:0034300": "Decreased acid sphingomyelinase activity", "HP:0034301": "Congenital pouch colon", "HP:0034302": "Megalopapilla", "HP:0034303": "Notched T wave", "HP:0034304": "Epsilon wave", "HP:0034305": "2:1 atrioventricular block", "HP:0034306": "Ventricular bigeminy", "HP:0034307": "Elevated left ventricular end-diastolic diameter", "HP:0034308": "Prolonged P wave", "HP:0034309": "Multiflagellar spermatozoa", "HP:0034310": "Post-vaccination yellow fever", "HP:0034311": "Hypoplastic optic chiasm", "HP:0034312": "Nocturnal hypoxemia", "HP:0034313": "Hyperdynamic left ventricular ejection fraction", "HP:0034314": "Abnormal left ventricular ejection fraction", "HP:0034315": "Chronic cough", "HP:0034316": "Thinning of the substantia nigra pars compacta", "HP:0034317": "Unusual viral infection", "HP:0034318": "Unusual virus reactivation", "HP:0034319": "CNS vasculitis with reactivation of varicella-zoster virus", "HP:0034320": "Muscle fiber intracytoplasmic reducing inclusion bodies", "HP:0034321": "Elevated circulating guanidinoacetic acid concentration", "HP:0034322": "Reduced galactocerebrosidase activity", "HP:0034323": "Reduced circulating growth hormone concentration", "HP:0034324": "Brachiocephalic artery aneurysm", "HP:0034325": "Common carotid artery aneurysm", "HP:0034326": "Adenomyosis", "HP:0034327": "Posterior corneal stroma punctiform multicolored opacities", "HP:0034328": "Fibro-obliterative bile-duct lesion", "HP:0034329": "Dysplastic megalencephaly", "HP:0034330": "Regional right ventricular hypokinesis", "HP:0034331": "McConnell sign", "HP:0034332": "Cognitive regression", "HP:0034333": "Increased circulating hypoxanthine concentration", "HP:0034335": "Inheritance modifier", "HP:0034336": "Splenic infarction", "HP:0034337": "Claw hand deformity", "HP:0034338": "Imprinted", "HP:0034339": "Pseudoautosomal inheritance", "HP:0034340": "Pseudoautosomal dominant inheritance", "HP:0034341": "Pseudoautosomal recessive inheritance", "HP:0034342": "Trapezius muscle aplasia", "HP:0034343": "Requires heterozygosity", "HP:0034344": "Female-limited expression", "HP:0034345": "Mendelian inheritance", "HP:0034346": "Nesidioblastosis", "HP:0034347": "Greater auricular nerve thickening", "HP:0034348": "Subpulmonary stenosis", "HP:0034349": "Supravalvar pulmonary stenosis", "HP:0034350": "Valvular pulmonary stenosis", "HP:0034351": "Neuromyotonia", "HP:0034352": "Bile duct polyp", "HP:0034353": "Appendicular spasticity", "HP:0034354": "Trichoschisis", "HP:0034355": "White cerebellum sign", "HP:0034356": "Impaired renal tubular reabsorption of low molecular weight protein", "HP:0034357": "Impaired renal tubular reabsorption of glucose", "HP:0034358": "Impaired renal tubular reabsorption of sodium", "HP:0034359": "Impaired renal tubular reabsorption of phosphate", "HP:0034360": "Action myoclonus", "HP:0034361": "Redundant umbilical skin", "HP:0034362": "Dull foveal reflex", "HP:0034363": "Corneal pterygium", "HP:0034364": "Fibrofatty replacement of right ventricular myocardium", "HP:0034365": "Elevated circulating alpha-aminoadipic semialdehyde concentration", "HP:0034366": "Fracture blister", "HP:0034367": "Decreased beta-mannosidase activity", "HP:0034368": "Urolithiasis", "HP:0034369": "Decreased level of coenzyme Q10 in skeletal muscle", "HP:0034370": "Abnormal muscle tissue metabolite concentration", "HP:0034371": "Reduced circulating prekallikrein concentration", "HP:0034372": "Internal tibial torsion", "HP:0034373": "External tibial torsion", "HP:0034374": "Trident acetabulum", "HP:0034375": "Spherophakia", "HP:0034376": "Atrioventricular valve regurgitation", "HP:0034377": "Single atrioventricular valve regurgitation", "HP:0034378": "Urethrovesical occlusion", "HP:0034380": "Juvenile type testicular granulosa cell tumor", "HP:0034381": "Central nervous system axonal spheroid", "HP:0034382": "Disease remission", "HP:0034383": "Elevated circulating biliverdin concentration", "HP:0034384": "Elevated circulating insulin:C-peptide ratio", "HP:0034385": "Abnormal left ventricular endsystolic diameter", "HP:0034386": "Reduced left ventricular endsystolic diameter", "HP:0034387": "Bacterial encephalitis", "HP:0034388": "Hilar lymph node enlargement", "HP:0034389": "Pulmonary vein varix", "HP:0034390": "Decreased CSF glycine concentration", "HP:0034391": "Elbow contracture", "HP:0034392": "Joint contracture", "HP:0034393": "Elbow extension contracture", "HP:0034394": "Forearm supination contracture", "HP:0034395": "Forearm pronation contracture", "HP:0034396": "Hippocampal malrotation", "HP:0034397": "Claw toe deformity", "HP:0034398": "Toe deformity", "HP:0034399": "Prolonged central motor conduction time", "HP:0034400": "Circumferential skin creases on extremities", "HP:0034401": "Atypical teratoid/rhabdoid tumor", "HP:0034402": "Rhabdoid tumor of the kidney", "HP:0034403": "Subcutaneous panniculitis-like T-cell lymphoma", "HP:0034404": "Fungal hyphae in sputum", "HP:0034405": "Enlarged tectum", "HP:0034406": "Elevated CSF angiotensin-converting enzyme concentration", "HP:0034407": "Reduced circulating 3-ketoacyl-CoA thiolase concentration", "HP:0034408": "Solitary angiokeratoma", "HP:0034409": "Fordyce angiokeratoma", "HP:0034410": "Angiokeratoma circumscriptum naeviforme", "HP:0034411": "Angiokeratoma of Mibelli", "HP:0034412": "Laryngeal mass", "HP:0034413": "Palate mass", "HP:0034414": "Thick oral frenulum", "HP:0034415": "Tooth avulsion", "HP:0034416": "Torn oral frenulum", "HP:0034417": "Intraoral laceration", "HP:0034418": "Erythematous oral mucosa", "HP:0034419": "Mitral chordae tendinae rupture", "HP:0034420": "History of cardiovascular procedure", "HP:0034421": "Ejection click", "HP:0034422": "Cryofibrinogenemia", "HP:0034423": "triggered by allergens", "HP:0034424": "Clicking tinnitus", "HP:0034425": "Reduced hair sulfur content", "HP:0034426": "Chromhidrosis", "HP:0034427": "Purulent eye discharge", "HP:0034428": "Megaloblepharon", "HP:0034429": "Bacteria in cerebrospinal fluid", "HP:0034430": "Abnormal joint physiology", "HP:0034431": "Joint crepitus", "HP:0034432": "Intertriginous distribution", "HP:0034433": "Distributed along skin tension lines", "HP:0034434": "Abnormal communication", "HP:0034435": "Abnormal eye contact", "HP:0034436": "Gaze avoidance", "HP:0034437": "Excessive eye contact", "HP:0034438": "Balanitis", "HP:0034439": "Instep location", "HP:0034440": "Ameliorated by ultraviolet light exposure", "HP:0034441": "Decreased circulating aspartic acid concentration", "HP:0034442": "Abnormal circulating erythropoietin concentration", "HP:0034443": "Reduced circulating erythropoietin concentration", "HP:0034444": "Abnormal gamma-glutamyltransferase level", "HP:0034445": "Reduced gamma-glutamyltransferase level", "HP:0034446": "Elevated circulating histamine concentration", "HP:0034447": "Increased circulating interleukin 18 concentration", "HP:0034448": "Abnormal phytanic acid:pristanic acid ratio", "HP:0034449": "Increased phytanic acid:pristanic acid ratio", "HP:0034450": "Decreased phytanic acid:pristanic acid ratio", "HP:0034451": "Rectovesical fistula", "HP:0034452": "Rectoureteral fistula", "HP:0034453": "Hypoplastic umbilicus", "HP:0034454": "Arachnoid granulation", "HP:0034455": "Increased CSF taurine concentration", "HP:0034456": "Elevated circulating glutathione concentration", "HP:0034457": "Hawkinsinuria", "HP:0034458": "Elevated urinary phenylpyruvic acid level", "HP:0034459": "Ameliorated by lumbar puncture", "HP:0034460": "Increased CSF uracil concentration", "HP:0034461": "Elevated urine kynurenine level", "HP:0034462": "Increased CSF L-alloisoleucine concentration", "HP:0034463": "Hydroxylysinemia", "HP:0034464": "Homocitrullinuria", "HP:0034465": "2-hydroxyadipic aciduria", "HP:0034466": "Homoargininuria", "HP:0034467": "Increased urinary cysteine level", "HP:0034468": "Gastric xanthoma", "HP:0034469": "Decreased stool elastase level", "HP:0034470": "Elevated stool chloride content", "HP:0034471": "Increased fecal coproporphyrin III:coproporphyrin I ratio", "HP:0034472": "Increased fecal harderoporphyrin", "HP:0034473": "Increased fecal heptacarboxylporphyrin", "HP:0034474": "Increased fecal pentacarboxylporphyrin", "HP:0034475": "Increased fecal isocoproporphyrin", "HP:0034476": "Positive fecal Clostridium botulinum test", "HP:0034477": "Perihepatic adhesions", "HP:0034478": "Dilated vas deferens", "HP:0034479": "Enlarged epididymis", "HP:0034480": "Absent epididymidis", "HP:0034481": "Atypical gestures", "HP:0034482": "Abnormal spinal cord physiology", "HP:0034483": "Bone marrow vacuolated lymphocytes", "HP:0034484": "Spinal cord calcifications", "HP:0034485": "Neuroepithelial cyst", "HP:0034486": "Reduced circulating interleukin 7 concentration", "HP:0034487": "Increased circulating interleukin 12 concentration", "HP:0034488": "Increased circulating interleukin 13 concentration", "HP:0034489": "Increased circulating interleukin 2 concentration", "HP:0034490": "Increased circulating interleukin 4 concentration", "HP:0034491": "Increased circulating interleukin 5 concentration", "HP:0034492": "Salpingitis", "HP:0034493": "Tubo-ovarian abscess", "HP:0034494": "Opacified paranasal sinuses", "HP:0034495": "Elevated brain glutamine level by MRS", "HP:0034496": "Abnormal brain glutamine level by MRS", "HP:0034497": "Increased urinary hexanoic acid level", "HP:0034498": "Hepatic focal nodular hyperplasia", "HP:0034499": "Increased bone marrow iron", "HP:0034500": "Glenoid fracture", "HP:0034501": "Widened mediastinum", "HP:0034502": "Narrow mediastinum", "HP:0034503": "Ovarian torsion", "HP:0034504": "Septate gallbladder", "HP:0034505": "Gallbladder wall thickening", "HP:0034506": "Gallbladder enlargement", "HP:0034507": "Gallbladder mass", "HP:0034508": "Fingerprint bodies", "HP:0034509": "Spheroid bodies", "HP:0034510": "Abnormal muscle tissue enzyme activity", "HP:0034511": "Reduced muscle aconitase activity", "HP:0034512": "Transitional-cell carcinoma of the ureter", "HP:0034513": "Increased circulating Interferon-alpha concentration", "HP:0034514": "Liver hamartoma", "HP:0034515": "Ameloblastoma", "HP:0034516": "Ameliorated by ketogenic diet", "HP:0034517": "Pretibial hyperpigmentation", "HP:0034518": "Gingival fragility", "HP:0034519": "Muscle fiber fuchsinophilic inclusion bodies", "HP:0034520": "Esophageal myenteric plexus degeneration", "HP:0034521": "Periorificial hyperkeratosis", "HP:0034522": "Eosinophilic lymph node infiltration", "HP:0034523": "Blood parasite", "HP:0034524": "Bloodstream trypomastigotes", "HP:0034525": "Adamantinoma", "HP:0034526": "Abnormal enzyme activity in muscle tissue", "HP:0034527": "Reduced muscle phosphoglycerate kinase activity", "HP:0034528": "Reduced fibroblast type III procollagen synthesis", "HP:0034529": "Reduced muscle myoadenylate deaminase activity", "HP:0034530": "Bent long bone", "HP:0034531": "Tracheal rupture", "HP:0034532": "Increased myocardial glycogen content", "HP:0034533": "Triggered by monoamine oxidase inhibitor", "HP:0034534": "Triggered by serotonin reuptake inhibitor", "HP:0034535": "Ameliorated by acetazolamide", "HP:0034536": "Ameliorated by exposure to medication", "HP:0034537": "Ameliorated by vitamin B12", "HP:0034538": "Ameliorated by thiamine", "HP:0034539": "Ameliorated by dantrolene", "HP:0034540": "Ameliorated by biotin", "HP:0034541": "Reduced bone-marrow megakaryocyte size", "HP:0034542": "Hairshafts with longitudinal grooves", "HP:0034543": "Mycobacterium bacteremia", "HP:0034544": "Decreased delta-aminolevulinate dehydratase activity", "HP:0034545": "Elevated circulating pancreatic secretory trypsin inhibitor activity", "HP:0034546": "Presence of uterus in 46,XY individual", "HP:0034547": "Intraluminal meconium calcification", "HP:0034548": "Portal vein hypoplasia", "HP:0034549": "Adrenal leiomyoma", "HP:0034550": "Small intestinal lymphoplasmacytic infiltrate", "HP:0034551": "Triggered by neuroleptic medication", "HP:0034552": "Abnormal peroxisomal morphology", "HP:0034553": "Absence of peroxisomes", "HP:0034554": "Paucity of peroxisomes", "HP:0034555": "Reduced sulfide:quinone oxidoreductase activity", "HP:0034556": "Deficit at segmental level", "HP:0034557": "Rhabdoid tumor", "HP:0034558": "Rhabdoid tumor of the ovary", "HP:0034559": "Cardiac rhabdoid tumor", "HP:0034560": "Malignant rhabdoid tumor of the bladder", "HP:0034561": "Malignant rhabdoid tumor of liver", "HP:0034562": "Malignant rhabdoid tumor of muscle", "HP:0034563": "Neck teratoma", "HP:0034564": "Kidney teratoma", "HP:0034565": "Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level", "HP:0034566": "Aplasia of posterior communicating artery", "HP:0034567": "Optic pit", "HP:0034568": "Ameliorated by naloxone", "HP:0034569": "Ameliorated by pyridoxal phosphate", "HP:0034570": "Thickened intrahepatic portal venules", "HP:0034571": "Ovarian fibrosis", "HP:0034572": "Pigment incontinence", "HP:0034573": "Abnormal epidermal protein expression", "HP:0034574": "Reduced epidermal keratin 10 protein expression", "HP:0034575": "Reduced epidermal collagen IV protein expression", "HP:0034576": "Reduced epidermal bullous pemphigoid antigen 1 protein expression", "HP:0034577": "Reduced epidermal collagen VII protein expression", "HP:0034578": "Reduced epidermal collagen XVII protein expression", "HP:0034579": "Reduced epidermal integrin alpha6beta4 protein expression", "HP:0034580": "Reduced epidermal plectin protein expression", "HP:0034581": "Bloodstream Trypanosoma cruzi", "HP:0034582": "Abnormal lymph node cell composition", "HP:0034583": "Lipid-laden lymph node macrophages", "HP:0034584": "Abnormal pancreatic acinus morphology", "HP:0034585": "Cochlear nerve hypoplasia", "HP:0034586": "Glutathionuria", "HP:0034587": "Nevus psiloliparus", "HP:0034588": "Crypt hyperplasia", "HP:0034589": "Increased circulating dehydroepiandrosterone-sulfate concentration", "HP:0034590": "Abnormal circulating thyroxine-binding globulin concentration", "HP:0034591": "Decreased circulating thyroxine-binding globulin concentration", "HP:0034592": "Elevated circulating beta-aminoisobutyric acid concentration", "HP:0034593": "Elevated circulating dihydrouracil concentration", "HP:0034594": "Elevated circulating dihydrothymine concentration", "HP:0034595": "Elevated circulating N-carbamyl-beta-alanine concentration", "HP:0034596": "Elevated ciculating 5-hydroxymethyluracil concentration", "HP:0034597": "Decreased CSF creatinine concentration", "HP:0034598": "Elevated urinary creatine level", "HP:0034599": "Decreased circulating biotin concentration", "HP:0034600": "Elevated circulating thrombopoietin concentration", "HP:0034601": "Decreased circulating C1q concentration", "HP:0034602": "Decreased circulating apolipoprotein A-II concentration", "HP:0034603": "Elevated circulating CA19-9 concentration", "HP:0034604": "Elevated circulating DOPA concentration", "HP:0034605": "Elevated CSF DOPA concentration", "HP:0034606": "Elevated circulating porphyrin concentration", "HP:0034607": "Decreased circulating 17-hydroxyprogesterone concentration", "HP:0034608": "Decreased circulating transcobalamin II concentration", "HP:0034609": "Polychromasia", "HP:0034610": "Decreased circulating myo-inositol concentration", "HP:0034611": "Elevated circulating arabitol concentration", "HP:0034612": "Elevated urine arabitol level", "HP:0034613": "Elevated urine erythritol level", "HP:0034614": "Elevated circulating erythritol concentration", "HP:0034615": "Reduced circulating matrix metalloproteinase 2 concentration", "HP:0034616": "Abnormal circulating coenzyme concentration", "HP:0034617": "Elevated circulating S-adenosyl methionine concentration", "HP:0034618": "Abnormal circulating membrane cofactor protein concentration", "HP:0034619": "Decreased circulating membrane cofactor protein concentration", "HP:0034620": "Elevated circulating membrane cofactor protein concentration", "HP:0034621": "Hepatic xanthomatosis", "HP:0034622": "Adrenal xanthomatosis", "HP:0034623": "Splenic xanthomatosis", "HP:0034624": "Spinal cord xanthomatosis", "HP:0034625": "Brain xanthomatosis", "HP:0034626": "Pulmonary xanthomatosis", "HP:0034627": "Bone marrow xanthomatosis", "HP:0034628": "Lymph node xanthomatosis", "HP:0034629": "Xanthoma of bone", "HP:0034630": "Ameliorated by folinic acid", "HP:0034631": "Triggered by succinylcholine anesthetic", "HP:0034632": "Exogenous androgen exposure", "HP:0034633": "Reduced muscle enolase activity", "HP:0034634": "Dopamine antagonist exposure", "HP:0034635": "Muscle fiber granulofilamentous inclusion bodies", "HP:0034636": "Bone marrow myeloid vacuolization", "HP:0034637": "Pulmonary cylindroma", "HP:0034638": "Colonic fibrinopurulent exudate", "HP:0034639": "Bloodstream microfilaria", "HP:0034640": "Skin infectious agent", "HP:0034641": "Dermal microfilaria", "HP:0034642": "Dermal papillary IgA deposition", "HP:0034643": "Dermal immune complex deposition", "HP:0034644": "Abnormal liver metabolite concentration", "HP:0034645": "Hepatic polyglucosan accumulation", "HP:0034646": "Urinary bladder neurofibroma", "HP:0034647": "Synovial granuloma", "HP:0034648": "Elevated urine fumaric acid level", "HP:0034649": "Elevated urine N-acetylaspartic acid level", "HP:0034650": "Elevated urine suberylglycine level", "HP:0034651": "Elevated urine phenylpropionylglycine level", "HP:0034652": "Elevated urine octenedioic acid level", "HP:0034653": "Monocarboxylic aciduria", "HP:0034654": "Elevated urine octanoic acid level", "HP:0034655": "Elevated urine glutaconic acid level", "HP:0034656": "Elevated urine 3-hydroxyglutaric level", "HP:0034657": "Elevated urine malonic acid level", "HP:0034658": "Elevated urine propionylglycine level", "HP:0034659": "Elevated urine tiglylglycine level", "HP:0034660": "Elevated urine 2-methylacetoacetic acid level", "HP:0034661": "Elevated urine 3-hydroxypropionic acid level", "HP:0034662": "Elevated urine 2-methylcitric acid level", "HP:0034663": "Elevated urine 4-hydroxyisovaleric acid level", "HP:0034664": "Elevated urine 2-hydroxy-3-methylvaleric acid level", "HP:0034665": "Shoulder contracture", "HP:0034666": "Shoulder extension contracture", "HP:0034667": "Thumb extension contracture", "HP:0034668": "Tongue myxoma", "HP:0034669": "Abnormal knee morphology", "HP:0034670": "Abnormal knee physiology", "HP:0034671": "Knee contracture", "HP:0034672": "Knee extension contracture", "HP:0034673": "Abnormal ankle morphology", "HP:0034674": "Abnormal ankle physiology", "HP:0034675": "Toe joint contracture", "HP:0034676": "Extension contracture of toe", "HP:0034677": "Ankle contracture", "HP:0034678": "Forefoot pronation contracture", "HP:0034679": "Forefoot supination contracture", "HP:0034680": "Forefoot adduction contracture", "HP:0034681": "Finger joint contracture", "HP:0034682": "Extension contracture of finger", "HP:0034683": "Reduced muscle telethonin level", "HP:0034684": "Abnormal enzyme concentration or activity", "HP:0034685": "Abnormal liver enzyme activity or concentration", "HP:0034686": "Reduced hepatic urocanase activity", "HP:0034687": "Impaired cerebroside sulfate hydrolysis", "HP:0034688": "Reduced peroxisomal glutaryl-CoA oxidase activity", "HP:0034689": "Reduced sterol 27-hydroxylase activity", "HP:0034690": "Reduced short-chain acyl-CoA dehydrogenase activity", "HP:0034691": "Reduced 3-phosphoglycerate dehydrogenase activity", "HP:0034692": "Elongated mitochondria", "HP:0034693": "Reduced hepatic methionine adenosyltransferase activity", "HP:0034694": "Substantia nigra dopaminergic neuron loss", "HP:0034696": "Intramuscular lipoma", "HP:0034697": "Cutaneous telangiectasia", "HP:0034698": "Abnormal aromatase activity", "HP:0034699": "Elevated aromatase activity", "HP:0034700": "Reduced aromatase activity", "HP:0034701": "Corneal amyloidosis", "HP:0034702": "Abnormal keratinocyte morphology", "HP:0034703": "Keratinocyte vacuolization", "HP:0034704": "Parotid gland adenocarcinoma", "HP:0034705": "Pulmonary vasculitis", "HP:0034706": "Reduced hepatic D-glycerate kinase activity", "HP:0034707": "Lymph-node hemophagocytosis", "HP:0034708": "Superior pubic ramus hypoplasia", "HP:0034709": "Uterine adenofibroma", "HP:0034710": "Pulmonary hamartoma", "HP:0034711": "Peripheral axonal distension", "HP:0034712": "Decreased alpha-mannosidase activity", "HP:0034713": "Abnormal hepatocyte morphology", "HP:0034714": "Hepatic melanin-like lysosomal pigmentation", "HP:0034715": "Reduced uroporphyrinogen decarboxylase activity", "HP:0034716": "Reduced heme oxygenase activity", "HP:0034717": "Cerebral cortex swollen achromatic neurons", "HP:0034718": "Vacuolated hepatocytes", "HP:0034719": "Lack of oocyte pronucleus formation", "HP:0034720": "Self-healing squamous epithelioma", "HP:0034721": "Elevated circulating pristanic acid concentration", "HP:0034722": "Sarcoplasmic bodies", "HP:0034723": "Elevated CSF hydroxyproline concentration", "HP:0034724": "Reduced CSF cystine concentration", "HP:0034725": "Abnormal beta-mannosidase activity", "HP:0034726": "Elevated beta-mannosidase activity", "HP:0034727": "Reduced alpha-L-fucosidase activity", "HP:0034728": "Abnormal alpha-L-fucosidase activity", "HP:0034729": "Elevated alpha-L-fucosidase activity", "HP:0034730": "Elevated circulating S-adenosyl-L-homocysteine concentration", "HP:0034731": "Elevated circulating S-adenosyl-L-methionine concentration", "HP:0034732": "Exercise-triggered malignant hyperthermia", "HP:0034733": "Anesthesic-triggered malignant hyperthermia", "HP:0034734": "Elevated CSF argininosuccinic acid concentration", "HP:0034735": "Elevated CSF aspartylglucosamine concentration", "HP:0034736": "Elevated circulating alpha-oxoadipic acid concentration", "HP:0034737": "Abnormal erythrocyte metabolite concentration", "HP:0034738": "Reduced erythrocyte glutathione concentration", "HP:0034739": "Elevated CSF sarcosine concentration", "HP:0034740": "Reduced CSF methionine concentration", "HP:0034741": "Elevated circulating homoarginine concentration", "HP:0034742": "Elevated urinary formiminoglutamic acid level", "HP:0034743": "Elevated CSF proline concentration", "HP:0034744": "Elevated urinary S-sulfocysteine level", "HP:0034745": "Elevated circulating S-sulfocysteine concentration", "HP:0034746": "Sertoli cell hyperplasia", "HP:0034747": "CSF infectious agent", "HP:0034748": "CSF mycobacteria", "HP:0034749": "Fungal bloodstream infection", "HP:0034750": "Supraclavicular lymphadenopathy", "HP:0034751": "Inguinal lymphadenopathy", "HP:0034752": "Axillary lymphadenopathy", "HP:0034753": "Positive Murphy sign", "HP:0034754": "Bilious emesis", "HP:0034755": "Ameliorated by NSAID", "HP:0034756": "Maternal exposure history", "HP:0034757": "Maternal barbiturate exposure", "HP:0034758": "Maternal narcotic exposure", "HP:0034759": "Ameliorated by ethosuximide", "HP:0034760": "Reduced epidermal extracellular matrix protein 1 protein expression", "HP:0034761": "Neurofibroma by anatomical location", "HP:0034762": "Tongue neurofibroma", "HP:0034763": "Cardiac neurofibroma", "HP:0034764": "Gastric neurofibroma", "HP:0034765": "Renal neurofibroma", "HP:0034766": "Muscle fiber polyglucosan inclusion bodies", "HP:0034767": "Abnormal rete ridge morphology", "HP:0034768": "Rete ridge elongation", "HP:0034769": "Pulmonary Langerhans cell histiocytosis", "HP:0034770": "Lumbar hypolordosis", "HP:0034771": "Battle sign", "HP:0034772": "Decreased skull base length", "HP:0034773": "Oscillopsia", "HP:0034774": "Decreased blink rate", "HP:0034775": "Abnormal blink rate", "HP:0034776": "Elevated blink rate", "HP:0034777": "Purulent sputum", "HP:0034778": "Maternal hyperthyroidism", "HP:0034779": "Perineal", "HP:0034780": "Gadolinium exposure", "HP:0034781": "Purulent parotid gland drainage", "HP:0040004": "Abnormality of corneal shape", "HP:0040006": "Mortality/Aging", "HP:0040007": "Absent pigmentation of chest", "HP:0040008": "Aplasia of facial bones", "HP:0040009": "Hyperparakeratosis", "HP:0040010": "Small posterior fossa", "HP:0040011": "Flat posterior fossa", "HP:0040012": "Chromosome breakage", "HP:0040013": "Decreased mitochondrial number", "HP:0040014": "Increased mitochondrial number", "HP:0040015": "Increased activity of mitochondrial respiratory chain", "HP:0040016": "Prominent coccyx", "HP:0040017": "Protruding coccyx", "HP:0040018": "Clinodactyly of hallux", "HP:0040019": "Finger clinodactyly", "HP:0040020": "Radial deviation of the 5th finger", "HP:0040022": "Clinodactyly of the 2nd finger", "HP:0040023": "Clinodactyly of the thumb", "HP:0040024": "Clinodactyly of the 3rd finger", "HP:0040025": "Clinodactyly of the 4th finger", "HP:0040030": "Chorioretinal hypopigmentation", "HP:0040031": "Chorioretinal hyperpigmentation", "HP:0040032": "Hypoplasia of the upper eyelids", "HP:0040033": "Aplasia/Hypoplasia of the fifth metatarsal bone", "HP:0040034": "Abnormality of the second metatarsal bone", "HP:0040035": "Abnormality of the fourth metatarsal bone", "HP:0040036": "Onychogryposis of fingernail", "HP:0040039": "Onycholysis of fingernails", "HP:0040040": "Toenail onycholysis", "HP:0040042": "Aplasia of the eccrine sweat glands", "HP:0040043": "Hypoplasia of the eccrine sweat glands", "HP:0040044": "Hypoplasia of the diaphragm", "HP:0040045": "Abnormal hemidiaphragm morphology", "HP:0040046": "Abnormal left hemidiaphragm morphology", "HP:0040047": "Abnormal right hemidiaphragm morphology", "HP:0040049": "Macular edema", "HP:0040050": "Sparse upper eyelashes", "HP:0040051": "Abnormality of upper eyelashes", "HP:0040052": "Abnormality of lower eyelashes", "HP:0040053": "Long lower eyelashes", "HP:0040054": "Short upper eyelashes", "HP:0040055": "Short lower eyelashes", "HP:0040056": "Absent upper eyelashes", "HP:0040057": "Abnormality of nasal hair", "HP:0040059": "Calcification of ribs", "HP:0040061": "Osteosclerosis of the radius", "HP:0040062": "Slender radius", "HP:0040063": "Decreased adipose tissue", "HP:0040064": "Abnormality of limbs", "HP:0040068": "Abnormality of limb bone", "HP:0040069": "Abnormal lower limb bone morphology", "HP:0040070": "Abnormal upper limb bone morphology", "HP:0040071": "Abnormal morphology of ulna", "HP:0040072": "Abnormal forearm bone morphology", "HP:0040075": "Hypopituitarism", "HP:0040078": "Axonal degeneration", "HP:0040079": "Irregular dentition", "HP:0040080": "Anteverted ears", "HP:0040081": "Abnormal circulating creatine kinase concentration", "HP:0040082": "Happy demeanor", "HP:0040084": "Abnormal circulating renin", "HP:0040085": "Abnormal circulating aldosterone", "HP:0040086": "Abnormal prolactin level", "HP:0040087": "Abnormal blood folate concentration", "HP:0040088": "Abnormal lymphocyte count", "HP:0040089": "Abnormal natural killer cell count", "HP:0040090": "Abnormality of the tympanic membrane", "HP:0040091": "Asymmetry of the size of ears", "HP:0040092": "Asymmetry of the shape of the ears", "HP:0040093": "Asymmetry of the position of the ears", "HP:0040095": "Neoplasm of the outer ear", "HP:0040096": "Neoplasm of the inner ear", "HP:0040097": "Neoplasm of the ceruminal gland", "HP:0040098": "Basalioma of the outer ear", "HP:0040099": "Abnormality of the round window", "HP:0040100": "Abnormality of the vestibular window", "HP:0040101": "Cutaneous atresia of the external auditory canal", "HP:0040102": "Osseous atresia of the external auditory canal", "HP:0040103": "Cutaneous stenosis of the external auditory canal", "HP:0040104": "Osseous stenosis of the external auditory canal", "HP:0040106": "Morphological abnormality of the lateral semicircular canal", "HP:0040107": "Morphological abnormality of the posterior semicircular canal", "HP:0040108": "Morphological abnormality of the anterior semicircular canal", "HP:0040109": "Morphological abnormality of the utricle", "HP:0040110": "Morphological abnormality of the saccule", "HP:0040112": "Abnormal number of tubercles", "HP:0040113": "Old-aged sensorineural hearing impairment", "HP:0040114": "Absence of the reflex of the tensor tympani muscle", "HP:0040115": "Abnormal Eustachian tube morphology", "HP:0040116": "Aplasia of the Eustachian tube", "HP:0040117": "Atresia of the Eustachian tube", "HP:0040118": "Stenosis of the Eustachian tube", "HP:0040119": "Unilateral conductive hearing impairment", "HP:0040120": "Abnormality of the reflex of the tensor tympani muscle", "HP:0040121": "Abnormality of the acoustic reflex", "HP:0040122": "Impairment of the the acoustic reflex", "HP:0040123": "Impairment of the reflex of the tensor tympani muscle", "HP:0040126": "Abnormal vitamin B12 level", "HP:0040127": "Abnormal sweat homeostasis", "HP:0040128": "Abnormal sweat electrolytes", "HP:0040129": "Abnormal nerve conduction velocity", "HP:0040130": "Abnormal serum iron concentration", "HP:0040131": "Abnormal motor nerve conduction velocity", "HP:0040132": "Abnormal sensory nerve conduction velocity", "HP:0040133": "Abnormal circulating ferritin concentration", "HP:0040134": "Abnormal hepatic iron concentration", "HP:0040135": "Abnormal transferrin saturation", "HP:0040137": "Comedonal acne", "HP:0040138": "Mucinous histiocytosis", "HP:0040139": "Lipogranulomatosis", "HP:0040140": "Degeneration of the striatum", "HP:0040141": "Tardive dyskinesia", "HP:0040142": "Reduced 5-oxoprolinase level", "HP:0040143": "Dystopic os odontoideum", "HP:0040144": "L-2-hydroxyglutaric aciduria", "HP:0040145": "Dicarboxylic acidemia", "HP:0040146": "D-2-hydroxyglutaric acidemia", "HP:0040147": "L-2-hydroxyglutaric acidemia", "HP:0040148": "Cortical myoclonus", "HP:0040149": "Woolly scalp hair", "HP:0040150": "Epiblepharon of upper lid", "HP:0040151": "Epiblepharon of lower lid", "HP:0040154": "Acne inversa", "HP:0040155": "Elevated urinary 3-hydroxybutyric acid", "HP:0040156": "Elevated urinary carboxylic acid", "HP:0040157": "Abnormal intermamillary distance", "HP:0040158": "Short intermamillary distance", "HP:0040159": "Abnormal spaced incisors", "HP:0040160": "Generalized osteoporosis", "HP:0040161": "Localized osteoporosis", "HP:0040162": "Orthokeratosis", "HP:0040163": "Abnormal pelvis bone morphology", "HP:0040164": "Lipomas of eyelids", "HP:0040165": "Periostitis", "HP:0040167": "Facial papilloma", "HP:0040169": "Loose anagen hair", "HP:0040170": "Abnormality of hair growth", "HP:0040171": "Decreased serum testosterone concentration", "HP:0040172": "Abnormality of occipitofrontalis muscle", "HP:0040173": "Abnormality of the tongue muscle", "HP:0040174": "Abnormality of extrinsic muscle of tongue", "HP:0040175": "Platelet-activating factor acetylhydrolase deficiency", "HP:0040176": "Abnormal circulating phospholipid concentration", "HP:0040177": "Abnormal level of platelet-activating factor", "HP:0040178": "Increased level of platelet-activating factor", "HP:0040179": "Decreased level of platelet-activating factor", "HP:0040181": "Chapped lip", "HP:0040182": "Inappropriate sinus tachycardia", "HP:0040183": "Encopresis", "HP:0040184": "Oral bleeding", "HP:0040185": "Macrothrombocytopenia", "HP:0040186": "Maculopapular exanthema", "HP:0040187": "Neonatal sepsis", "HP:0040188": "Osteochondrosis", "HP:0040189": "Scaling skin", "HP:0040190": "White scaling skin", "HP:0040191": "Rectus femoris muscle atrophy", "HP:0040192": "APUdoma", "HP:0040194": "Increased head circumference", "HP:0040195": "Decreased head circumference", "HP:0040196": "Mild microcephaly", "HP:0040197": "Encephalomalacia", "HP:0040198": "Non-medullary thyroid carcinoma", "HP:0040200": "Motor impersistence", "HP:0040201": "Simultanapraxia", "HP:0040202": "Abnormal consumption behavior", "HP:0040203": "Abnormal CSF neopterin concentration", "HP:0040204": "Elevated CSF neopterin level", "HP:0040205": "Decreased CSF neopterin level", "HP:0040206": "Abnormal circulating neopterin concentration", "HP:0040207": "Abnormal CSF biopterin concentration", "HP:0040208": "Elevated CSF biopterin level", "HP:0040209": "Decreased CSF biopterin level", "HP:0040210": "Abnormal circulating biopterin concentration", "HP:0040211": "Abnormal skin morphology of the palm", "HP:0040212": "Risus sardonicus", "HP:0040213": "Hypopnea", "HP:0040214": "Abnormal circulating insulin concentration", "HP:0040216": "Hypoinsulinemia", "HP:0040217": "Elevated hemoglobin A1c", "HP:0040218": "Reduced natural killer cell count", "HP:0040219": "Absent natural killer cells", "HP:0040220": "Abnormal size of the dental root", "HP:0040221": "Hypoplasia of the dental root", "HP:0040222": "Maternal thrombophilia", "HP:0040223": "Pulmonary hemorrhage", "HP:0040224": "Abnormality of fibrinolysis", "HP:0040225": "Decrease in high molecular weight von Willebrand factor Multimers", "HP:0040226": "Decreased level of heparin co-factor II", "HP:0040227": "Decreased level of histidine-rich glycoprotein", "HP:0040228": "Decreased level of plasminogen", "HP:0040229": "Decreased level of thrombomodulin", "HP:0040230": "Decreased level of tissue plasminogen activator", "HP:0040231": "Abnormal onset of bleeding", "HP:0040232": "Delayed onset bleeding", "HP:0040233": "Factor XIII subunit A deficiency", "HP:0040234": "Factor XIII subunit B deficiency", "HP:0040235": "Leukocyte inclusion bodies", "HP:0040236": "Hyperfibrinolysis", "HP:0040237": "Impaired binding of factor VIII to VWF", "HP:0040238": "Impaired neutrophil chemotaxis", "HP:0040239": "Increased plasma vitamin K epoxide after vitamin K supplementation", "HP:0040240": "Increased ratio of VWF propeptide to VWF antigen", "HP:0040241": "Increased RIPA", "HP:0040242": "Muscle hemorrhage", "HP:0040243": "Prolonged euglobulin clot lysis time", "HP:0040244": "Prolonged Russell's viper venom time", "HP:0040245": "Reduced alpha-2-antiplasmin activity", "HP:0040246": "Reduced antithrombin antigen", "HP:0040247": "Reduced euglobulin clot lysis time", "HP:0040248": "Reduced plasminogen activator inhibitor 1 activity", "HP:0040249": "Reduced plasminogen activator inhibitor 1 antigen", "HP:0040250": "Reduced prothrombin antigen", "HP:0040251": "Hand dimple", "HP:0040252": "Abnormal size of the clitoris", "HP:0040253": "Increased size of the clitoris", "HP:0040254": "Decreased size of the clitoris", "HP:0040255": "Aplasia/Hypoplasia of the clitoris", "HP:0040256": "Aplastic/Hypoplastic nasopharyngeal adenoids", "HP:0040257": "Abnormal size of nasopharyngeal adenoids", "HP:0040258": "Hypoplastic nasopharyngeal adenoids", "HP:0040259": "Aplastic nasopharyngeal adenoids", "HP:0040260": "Decreased size of nasopharyngeal adenoids", "HP:0040261": "Increased size of nasopharyngeal adenoids", "HP:0040262": "Glue ear", "HP:0040263": "Jaw ankylosis", "HP:0040264": "Jaw pain", "HP:0040265": "Upper limb muscle hypertrophy", "HP:0040266": "Proximal upper limb muscle hypertrophy", "HP:0040267": "Distal upper limb muscle hypertrophy", "HP:0040268": "Recurrent infections of the middle ear", "HP:0040269": "Blocked Eustachian tube", "HP:0040270": "Impaired glucose tolerance", "HP:0040272": "Hyperintensity of MRI T2 signal of the spinal cord", "HP:0040273": "Adenocarcinoma of the intestines", "HP:0040274": "Adenocarcinoma of the small intestine", "HP:0040275": "Adenocarcinoma of the large intestine", "HP:0040276": "Adenocarcinoma of the colon", "HP:0040277": "Neoplasm of the pituitary gland", "HP:0040278": "Prolactinoma", "HP:0040279": "Frequency", "HP:0040280": "Obligate", "HP:0040281": "Very frequent", "HP:0040282": "Frequent", "HP:0040283": "Occasional", "HP:0040284": "Very rare", "HP:0040285": "Excluded", "HP:0040286": "Abnormal axial muscle morphology", "HP:0040287": "Axial muscle atrophy", "HP:0040288": "Nasogastric tube feeding", "HP:0040289": "Cyclic neutropenia", "HP:0040291": "Skeletal muscle steatosis", "HP:0040292": "Left hemiplegia", "HP:0040293": "Right hemiplegia", "HP:0040294": "Duplicated tongue", "HP:0040295": "Duplication of the upper lip", "HP:0040296": "Abnormal location of the eyebrow", "HP:0040297": "Preauricular cyst", "HP:0040298": "Hyperplasia of the endometrium", "HP:0040299": "Decreased circulating free fatty acid level", "HP:0040300": "Abnormal circulating free fatty acid concentration", "HP:0040301": "Increased urinary glycerol", "HP:0040302": "Hyperglycerolemia", "HP:0040303": "Decreased serum iron", "HP:0040304": "Duplication of the sella turcica", "HP:0040305": "Increased male libido", "HP:0040306": "Decreased male libido", "HP:0040307": "Male sexual dysfunction", "HP:0040308": "Male anorgasmia", "HP:0040309": "Increased size of the mandible", "HP:0040310": "Sterile arthritis", "HP:0040311": "Symmetric polyarthritis", "HP:0040312": "Temporomandibular arthritis", "HP:0040313": "Oligoarthritis", "HP:0040314": "Blind vagina", "HP:0040315": "Tongue edema", "HP:0040317": "Blue urine", "HP:0040318": "Red urine", "HP:0040319": "Dark urine", "HP:0040320": "Red-brown urine", "HP:0040321": "Dark yellow urine", "HP:0040322": "Purple urine", "HP:0040323": "Erythema of the eyelids", "HP:0040324": "Heliotrope rash", "HP:0040325": "Bull's eye rash", "HP:0040326": "Hypoplasia of the olfactory bulb", "HP:0040327": "Abnormal morphology of the olfactory bulb", "HP:0040328": "Focal hyperintensity of cerebral white matter on MRI", "HP:0040329": "Multifocal hyperintensity of cerebral white matter on MRI", "HP:0040330": "Confluent hyperintensity of cerebral white matter on MRI", "HP:0040331": "Focal hypointensity of cerebral white matter on MRI", "HP:0040332": "Multifocal hypointensity of cerebral white matter on MRI", "HP:0040333": "Confluent hypointensity of cerebral white matter on MRI", "HP:0040334": "Purulent rhinitis", "HP:0041042": "Absent neutrophil lactoferrin", "HP:0041043": "Neutrophil nuclear clefts", "HP:0041044": "Low neutrophil alkaline phosphatase", "HP:0041045": "Increased neutrophil mitochondria", "HP:0041046": "Increased neutrophil ribosomes", "HP:0041047": "Bladder outlet obstruction", "HP:0041048": "Decreased expression of GPI-anchored proteins on the cell surface", "HP:0041049": "Starch intolerance", "HP:0041050": "Renal tubular cyst", "HP:0041051": "Ageusia", "HP:0041052": "Agenesis of putamen", "HP:0041055": "Fractured humerus", "HP:0041056": "Hot cross bun sign", "HP:0041057": "Transient decreased circulating IgG4", "HP:0041058": "Chronic decreased circulating IgG4", "HP:0041059": "Chronic (near) absent circulating IgG4", "HP:0041060": "Chronic partially decreased circulating IgG4", "HP:0041061": "Fractured calcaneus", "HP:0041062": "Transient decreased circulating IgG2", "HP:0041063": "Chronic decreased cirulating IgG2", "HP:0041064": "Fractured knee", "HP:0041065": "Chronic (near) absent circulating IgG2", "HP:0041066": "Chronic partially decreased circulating IgG2", "HP:0041067": "Transient decreased circulating IgG1", "HP:0041068": "Chronic decreased circulating IgG1", "HP:0041069": "Chronic (near) absent circulating IgG1", "HP:0041070": "Chronic partially decreased circulating IgG1", "HP:0041071": "Transient decreased circulating IgG3", "HP:0041072": "Chronic decreased circulating IgG3", "HP:0041073": "Fractured thoracic vertebra", "HP:0041074": "Chronic (near) absent circulating IgG3", "HP:0041075": "Chronic partially decreased circulating IgG3", "HP:0041076": "Abnormal immunoglobulin level in body fluid", "HP:0041077": "Increased immunoglobulin level in body fluid", "HP:0041078": "Decreased immunoglobulin level in body fluid", "HP:0041079": "Decreased body fat percentage", "HP:0041080": "Abnormal proportion of exhausted T cells", "HP:0041081": "Fractured lower leg", "HP:0041082": "Fractured skull", "HP:0041083": "Fractured phalanx", "HP:0041084": "Compression-fractured thoracic vertebra", "HP:0041085": "Compression-fractured vertebra", "HP:0041086": "Compression-fractured cervical vertebra", "HP:0041087": "Compression-fractured lumbar vertebra", "HP:0041088": "Avulsion fractured humerus", "HP:0041089": "Avulsion fractured tibia", "HP:0041091": "Avulsion fractured epiphysis of femur", "HP:0041092": "Emotional hypersensitivity", "HP:0041093": "Beau's lines", "HP:0041094": "Complete tracheal ring", "HP:0041095": "Decreased middle cerebral artery pulsatility index", "HP:0041114": "Fractured metaphysis of femur", "HP:0041115": "Fractured right clavicle", "HP:0041116": "Fractured left clavicle", "HP:0041117": "Fractured lower limb segment", "HP:0041118": "Fractured upper limb segment", "HP:0041119": "Fractured metacarpus skeleton", "HP:0041121": "Fractured epiphysis of fifth metacarpal bone", "HP:0041143": "Fractured tibia", "HP:0041144": "Fractured clavicle bone", "HP:0041145": "Fractured acetabular part of hip bone", "HP:0041146": "Fractured coccyx", "HP:0041147": "Fractured epiphysis", "HP:0041149": "Fractured navicular bone of pes", "HP:0041150": "Fractured cuboid bone", "HP:0041152": "Fractured sternoclavicular joint", "HP:0041153": "Fractured ankle", "HP:0041154": "Fractured elbow joint", "HP:0041155": "Fractured mandible", "HP:0041156": "Fractured orbit of skull", "HP:0041157": "Fractured larynx", "HP:0041159": "Fractured rib", "HP:0041162": "Metatarsal fracture", "HP:0041163": "Fractured manual digit", "HP:0041164": "Fractured talus", "HP:0041165": "Fractured maxilla", "HP:0041166": "Fractured vertebra", "HP:0041167": "Fractured cervical vertebra", "HP:0041168": "Fractured lumbar vertebra", "HP:0041172": "Fractured fused sacrum", "HP:0041173": "Fractured metacarpophalangeal joint", "HP:0041174": "Fractured distal phalanx of manus", "HP:0041175": "Fractured middle phalanx of pes", "HP:0041176": "Fractured distal phalanx of manual digit 2", "HP:0041177": "Fractured distal phalanx of manual digit 3", "HP:0041178": "Fractured distal phalanx of manual digit 4", "HP:0041179": "Fractured distal phalanx of manual digit 5", "HP:0041180": "Fractured distal phalanx of pedal digit 1", "HP:0041181": "Fractured distal phalanx of pedal digit 3", "HP:0041182": "Fractured middle phalanx of manual digit 2", "HP:0041183": "Fractured middle phalanx of manual digit 3", "HP:0041184": "Fractured middle phalanx of manual digit 4", "HP:0041185": "Fractured middle phalanx of manual digit 5", "HP:0041186": "Fractured middle phalanx of pedal digit 3", "HP:0041187": "Fractured proximal phalanx of pedal digit 1", "HP:0041188": "Fractured proximal phalanx of manual digit 1", "HP:0041189": "Fractured epiphysis of femur", "HP:0041190": "Fractured epiphysis of second metacarpal bone", "HP:0041191": "Fractured epiphysis of third metacarpal bone", "HP:0041192": "Fractured epiphysis of fourth metacarpal bone", "HP:0041193": "Fractured epiphysis of first metatarsal bone", "HP:0041194": "Fractured epiphysis of second metatarsal bone", "HP:0041195": "Fractured epiphysis of third metatarsal bone", "HP:0041196": "Fractured distal epiphysis of radius", "HP:0041197": "Fractured proximal epiphysis of first metacarpal bone", "HP:0041198": "Fractured proximal epiphysis of middle phalanx of manual digit 3", "HP:0041199": "Fractured interphalangeal joint", "HP:0041200": "Fractured sternal end of clavicle", "HP:0041209": "Fractured epiphysis of middle phalanx of manus", "HP:0041210": "Fractured lateral malleolus of fibula", "HP:0041211": "Fractured proximal phalanx of digit 2", "HP:0041212": "Fractured proximal phalanx of digit 3", "HP:0041213": "Fractured proximal phalanx of digit 4", "HP:0041214": "Fractured proximal phalanx of digit 5", "HP:0041215": "Fractured fused metatarsal bones 2-4", "HP:0041216": "Fractured distal epiphysis of distal phalanx of manual digit 1", "HP:0041217": "Fractured shoulder", "HP:0041218": "Fractured distal phalanx", "HP:0041219": "Fractured elbow", "HP:0041220": "Fractured facial bone", "HP:0041221": "Fractured head of femur", "HP:0041222": "Fractured fibula", "HP:0041223": "Fractured metatarsal bone of digit 5", "HP:0041224": "Fractured manual digit bone", "HP:0041225": "Fractured metacarpal bone of digit 1", "HP:0041226": "Fractured distal tarsal bone", "HP:0041227": "Fractured distal tarsal bone 2", "HP:0041228": "Fractured distal tarsal bone 3", "HP:0041230": "Fractured metatarsal bone of digit 4", "HP:0041231": "Fractured metatarsal bone of digit 1", "HP:0041233": "Fractured ilium", "HP:0041234": "Fractured bone of jaw", "HP:0041235": "Fractured hindlimb bone", "HP:0041236": "Fractured middle phalanx of manus", "HP:0041237": "Fractured patella", "HP:0041239": "Fractured manual digit 1 phalanx", "HP:0041240": "Fractured phalanx of pes", "HP:0041241": "Fractured phalanx of manus", "HP:0041243": "Fractured proximal phalanx of manus", "HP:0041244": "Fractured scapula", "HP:0041245": "Fractured shoulder bone", "HP:0041246": "Fractured sternum", "HP:0041247": "Fractured tarsal bone", "HP:0041248": "Fractured carpal bone", "HP:0041249": "Fractured nose", "HP:0045001": "Abnormal ossification of the trapezium", "HP:0045002": "Absent ossification of the trapezium", "HP:0045003": "Abnormal ossification of the scaphoid", "HP:0045004": "Abnormal ossification of the trapezoid bone", "HP:0045005": "Neural tube defect", "HP:0045006": "Aplasia of lymphatic vessels", "HP:0045007": "Abnormal substantia nigra morphology", "HP:0045008": "Abnormal shape of the radius", "HP:0045010": "Abnormal peripheral nerve morphology by anatomical site", "HP:0045011": "Decreased urine bicarbonate concentration", "HP:0045012": "Decreased urinary catecholamine concentration", "HP:0045014": "Hypolipidemia", "HP:0045017": "Congenital malformation of the left heart", "HP:0045018": "Partial duplication of eyebrows", "HP:0045025": "Narrow palpebral fissure", "HP:0045026": "Abnormal mediastinum morphology", "HP:0045027": "Abnormality of the thoracic cavity", "HP:0045028": "Microlissencephaly", "HP:0045029": "Eosinophilic fasciitis", "HP:0045034": "Elevated urinary aminoisobutyric acid", "HP:0045035": "Decreased urinary copper concentration", "HP:0045036": "Abnormal urinary copper concentration", "HP:0045037": "Abnormality of jaw muscles", "HP:0045038": "Gastric lymphoma", "HP:0045039": "Osteolysis involving bones of the upper limbs", "HP:0045040": "Abnormal lactate dehydrogenase level", "HP:0045041": "Reduced lactate dehydrogenase B level", "HP:0045042": "Decreased circulating complement C4 concentration", "HP:0045043": "Decreased circulating complement C4a concentration", "HP:0045044": "Decreased circulating complement C4b concentration", "HP:0045045": "Elevated circulating acylcarnitine concentration", "HP:0045046": "Reduced insulin like growth factor binding protein acid labile subunit concentration", "HP:0045047": "HbS hemoglobin", "HP:0045048": "Increased HbA2 hemoglobin", "HP:0045049": "Abnormal DLCO", "HP:0045050": "Increased DLCO", "HP:0045051": "Decreased DLCO", "HP:0045052": "Abnormality of the brachial nerve plexus", "HP:0045053": "Abnormality of the lumbosacral nerve plexus", "HP:0045054": "Brachial plexus neuropathy", "HP:0045055": "Tiger tail banding", "HP:0045056": "Abnormal circulating alpha-fetoprotein concentration", "HP:0045057": "Decreased circulating alpha-fetoprotein concentration", "HP:0045058": "Abnormality of the testis size", "HP:0045059": "Hyperkeratotic papule", "HP:0045060": "Aplasia/hypoplasia involving bones of the extremities", "HP:0045061": "Decreased carnitine level in liver", "HP:0045063": "Increased PIVKA-II", "HP:0045073": "Serositis", "HP:0045074": "Thin eyebrow", "HP:0045075": "Sparse eyebrow", "HP:0045079": "Distal femoral metaphyseal irregularity", "HP:0045080": "Decreased proportion of CD3-positive T cells", "HP:0045081": "Abnormality of body mass index", "HP:0045082": "Decreased body mass index", "HP:0045084": "Limb myoclonus", "HP:0045085": "Atrophy of masseter muscle", "HP:0045086": "Knee joint hypermobility", "HP:0045087": "Hip joint hypermobility", "HP:0045088": "Clinical relevance", "HP:0045089": "Distinctive finding", "HP:0045090": "Minor finding", "HP:0046502": "Anorgasmia", "HP:0046503": "Increased libido", "HP:0046504": "Decreased libido", "HP:0046505": "Hand pain", "HP:0046506": "Pain in head and neck region", "HP:0046507": "Bradypnea", "HP:0046508": "Abnormal cervical spine morphology", "HP:0100000": "Early onset of sexual maturation", "HP:0100001": "Malignant mesothelioma", "HP:0100002": "Pleural mesothelioma", "HP:0100003": "Peritoneal mesothelioma", "HP:0100004": "Pericardial mesothelioma", "HP:0100005": "Testicular mesothelioma", "HP:0100006": "Neoplasm of the central nervous system", "HP:0100007": "Neoplasm of the peripheral nervous system", "HP:0100008": "Schwannoma", "HP:0100009": "Intracranial meningioma", "HP:0100010": "Spinal meningioma", "HP:0100011": "Scleral schwannoma", "HP:0100012": "Neoplasm of the eye", "HP:0100013": "Neoplasm of the breast", "HP:0100014": "Epiretinal membrane", "HP:0100015": "Stahl ear", "HP:0100016": "Abnormality of mesentery morphology", "HP:0100017": "Capsular cataract", "HP:0100018": "Nuclear cataract", "HP:0100019": "Cortical cataract", "HP:0100020": "Posterior capsular cataract", "HP:0100021": "Cerebral palsy", "HP:0100022": "Abnormality of movement", "HP:0100023": "Recurrent hand flapping", "HP:0100024": "Conspicuously happy disposition", "HP:0100025": "Overfriendliness", "HP:0100026": "Arteriovenous malformation", "HP:0100027": "Recurrent pancreatitis", "HP:0100028": "Ectopic thyroid", "HP:0100029": "Lingual thyroid", "HP:0100030": "Accessory ectopic thyroid tissue", "HP:0100031": "Neoplasm of the thyroid gland", "HP:0100033": "Tics", "HP:0100034": "Motor tics", "HP:0100035": "Phonic tics", "HP:0100036": "Pseudo-fractures", "HP:0100037": "Abnormality of the scalp hair", "HP:0100038": "Slow-growing scalp hair", "HP:0100039": "Thickened cortex of bones", "HP:0100040": "Broad 2nd toe", "HP:0100041": "Broad 3rd toe", "HP:0100042": "Broad 4th toe", "HP:0100043": "Broad 5th toe", "HP:0100044": "Absent epiphyses of the 2nd toe", "HP:0100045": "Bracket epiphyses of the 2nd toe", "HP:0100046": "Cone-shaped epiphyses of the 2nd toe", "HP:0100047": "Enlarged epiphyses of the 2nd toe", "HP:0100048": "Fragmentation of the epiphyses of the 2nd toe", "HP:0100049": "Irregular epiphyses of the 2nd toe", "HP:0100050": "Ivory epiphyses of the 2nd toe", "HP:0100051": "Pseudoepiphyses of the 2nd toe", "HP:0100052": "Small epiphyses of the 2nd toe", "HP:0100053": "Stippling of the epiphyses of the 2nd toe", "HP:0100054": "Triangular epiphyses of the 2nd toe", "HP:0100055": "Absent epiphyses of the 3rd toe", "HP:0100056": "Bracket epiphyses of the 3rd toe", "HP:0100057": "Cone-shaped epiphyses of the 3rd toe", "HP:0100058": "Enlarged epiphyses of the 3rd toe", "HP:0100059": "Fragmentation of the epiphyses of the 3rd toe", "HP:0100060": "Irregular epiphyses of the 3rd toe", "HP:0100061": "Ivory epiphyses of the 3rd toe", "HP:0100062": "Pseudoepiphyses of the 3rd toe", "HP:0100063": "Small epiphyses of the 3rd toe", "HP:0100064": "Stippling of the epiphyses of the 3rd toe", "HP:0100065": "Triangular epiphyses of the 3rd toe", "HP:0100066": "Absent epiphyses of the 4th toe", "HP:0100067": "Bracket epiphyses of the 4th toe", "HP:0100068": "Cone-shaped epiphyses of the 4th toe", "HP:0100069": "Enlarged epiphyses of the 4th toe", "HP:0100070": "Fragmentation of the epiphyses of the 4th toe", "HP:0100071": "Irregular epiphyses of the 4th toe", "HP:0100072": "Ivory epiphyses of the 4th toe", "HP:0100073": "Pseudoepiphyses of the 4th toe", "HP:0100074": "Small epiphyses of the 4th toe", "HP:0100075": "Stippling of the epiphyses of the 4th toe", "HP:0100076": "Triangular epiphyses of the 4th toe", "HP:0100077": "Absent epiphyses of the 5th toe", "HP:0100078": "Bracket epiphyses of the 5th toe", "HP:0100079": "Cone-shaped epiphyses of the 5th toe", "HP:0100080": "Enlarged epiphyses of the 5th toe", "HP:0100081": "Fragmentation of the epiphyses of the 5th toe", "HP:0100082": "Irregular epiphyses of the 5th toe", "HP:0100083": "Ivory epiphyses of the 5th toe", "HP:0100084": "Pseudoepiphyses of the 5th toe", "HP:0100085": "Small epiphyses of the 5th toe", "HP:0100086": "Stippling of the epiphyses of the 5th toe", "HP:0100087": "Triangular epiphyses of the 5th toe", "HP:0100088": "Abnormality of the epiphysis of the distal phalanx of the 2nd toe", "HP:0100089": "Abnormality of the epiphysis of the middle phalanx of the 2nd toe", "HP:0100090": "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe", "HP:0100091": "Abnormality of the epiphysis of the distal phalanx of the 3rd toe", "HP:0100092": "Abnormality of the epiphysis of the middle phalanx of the 3rd toe", "HP:0100093": "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe", "HP:0100094": "Abnormality of the epiphysis of the distal phalanx of the 4th toe", "HP:0100095": "Abnormality of the epiphysis of the middle phalanx of the 4th toe", "HP:0100096": "Abnormality of the epiphysis of the proximal phalanx of the 4th toe", "HP:0100097": "Abnormality of the epiphysis of the distal phalanx of the 5th toe", "HP:0100098": "Abnormality of the epiphysis of the middle phalanx of the 5th toe", "HP:0100099": "Abnormality of the epiphysis of the proximal phalanx of the 5th toe", "HP:0100100": "Absent epiphysis of the distal phalanx of the 2nd toe", "HP:0100101": "Bracket epiphysis of the distal phalanx of the 2nd toe", "HP:0100102": "Cone-shaped epiphysis of the distal phalanx of the 2nd toe", "HP:0100103": "Enlarged epiphysis of the distal phalanx of the 2nd toe", "HP:0100104": "Fragmentation of the epiphysis of the distal phalanx of the 2nd toe", "HP:0100105": "Irregular epiphysis of the distal phalanx of the 2nd toe", "HP:0100106": "Ivory epiphysis of the distal phalanx of the 2nd toe", "HP:0100107": "Pseudoepiphysis of the distal phalanx of the 2nd toe", "HP:0100108": "Small epiphysis of the distal phalanx of the 2nd toe", "HP:0100109": "Stippling of the epiphysis of the distal phalanx of the 2nd toe", "HP:0100110": "Triangular epiphysis of the distal phalanx of the 2nd toe", "HP:0100111": "Absent epiphysis of the middle phalanx of the 2nd toe", "HP:0100112": "Bracket epiphysis of the middle phalanx of the 2nd toe", "HP:0100113": "Cone-shaped epiphysis of the middle phalanx of the 2nd toe", "HP:0100114": "Enlarged epiphysis of the middle phalanx of the 2nd toe", "HP:0100115": "Fragmentation of the epiphysis of the middle phalanx of the 2nd toe", "HP:0100116": "Irregular epiphysis of the middle phalanx of the 2nd toe", "HP:0100117": "Ivory epiphysis of the middle phalanx of the 2nd toe", "HP:0100118": "Pseudoepiphysis of the middle phalanx of the 2nd toe", "HP:0100119": "Small epiphysis of the middle phalanx of the 2nd toe", "HP:0100120": "Stippling of the epiphysis of the middle phalanx of the 2nd toe", "HP:0100121": "Triangular epiphysis of the middle phalanx of the 2nd toe", "HP:0100122": "Absent epiphysis of the proximal phalanx of the 2nd toe", "HP:0100123": "Bracket epiphysis of the proximal phalanx of the 2nd toe", "HP:0100124": "Cone-shaped epiphysis of the proximal phalanx of the 2nd toe", "HP:0100125": "Enlarged epiphysis of the proximal phalanx of the 2nd toe", "HP:0100126": "Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe", "HP:0100127": "Irregular epiphysis of the proximal phalanx of the 2nd toe", "HP:0100128": "Ivory epiphysis of the proximal phalanx of the 2nd toe", "HP:0100129": "Pseudoepiphysis of the proximal phalanx of the 2nd toe", "HP:0100130": "Small epiphysis of the proximal phalanx of the 2nd toe", "HP:0100131": "Stippling of the epiphysis of the proximal phalanx of the 2nd toe", "HP:0100132": "Triangular epiphysis of the proximal phalanx of the 2nd toe", "HP:0100133": "Abnormality of the pubic hair", "HP:0100134": "Abnormality of the axillary hair", "HP:0100135": "Absent epiphysis of the distal phalanx of the 3rd toe", "HP:0100136": "Bracket epiphysis of the distal phalanx of the 3rd toe", "HP:0100137": "Cone-shaped epiphysis of the distal phalanx of the 3rd toe", "HP:0100138": "Enlarged epiphysis of the distal phalanx of the 3rd toe", "HP:0100139": "Fragmentation of the epiphysis of the distal phalanx of the 3rd toe", "HP:0100140": "Irregular epiphysis of the distal phalanx of the 3rd toe", "HP:0100141": "Ivory epiphysis of the distal phalanx of the 3rd toe", "HP:0100142": "Pseudoepiphysis of the distal phalanx of the 3rd toe", "HP:0100143": "Small epiphysis of the distal phalanx of the 3rd toe", "HP:0100144": "Stippling of the epiphysis of the distal phalanx of the 3rd toe", "HP:0100145": "Triangular epiphysis of the distal phalanx of the 3rd toe", "HP:0100146": "Absent epiphysis of the middle phalanx of the 3rd toe", "HP:0100147": "Bracket epiphysis of the middle phalanx of the 3rd toe", "HP:0100148": "Cone-shaped epiphysis of the middle phalanx of the 3rd toe", "HP:0100149": "Enlarged epiphysis of the middle phalanx of the 3rd toe", "HP:0100150": "Fragmentation of the epiphysis of the middle phalanx of the 3rd toe", "HP:0100151": "Irregular epiphysis of the middle phalanx of the 3rd toe", "HP:0100152": "Ivory epiphysis of the middle phalanx of the 3rd toe", "HP:0100153": "Pseudoepiphysis of the middle phalanx of the 3rd toe", "HP:0100154": "Small epiphysis of the middle phalanx of the 3rd toe", "HP:0100155": "Stippling of the epiphysis of the middle phalanx of the 3rd toe", "HP:0100156": "Triangular epiphysis of the middle phalanx of the 3rd toe", "HP:0100157": "Absent epiphysis of the proximal phalanx of the 3rd toe", "HP:0100158": "Bracket epiphysis of the proximal phalanx of the 3rd toe", "HP:0100159": "Cone-shaped epiphysis of the proximal phalanx of the 3rd toe", "HP:0100160": "Enlarged epiphysis of the proximal phalanx of the 3rd toe", "HP:0100161": "Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe", "HP:0100162": "Irregular epiphysis of the proximal phalanx of the 3rd toe", "HP:0100163": "Ivory epiphysis of the proximal phalanx of the 3rd toe", "HP:0100164": "Pseudoepiphysis of the proximal phalanx of the 3rd toe", "HP:0100165": "Small epiphysis of the proximal phalanx of the 3rd toe", "HP:0100166": "Stippling of the epiphysis of the proximal phalanx of the 3rd toe", "HP:0100167": "Triangular epiphysis of the proximal phalanx of the 3rd toe", "HP:0100168": "Fragmented epiphyses", "HP:0100169": "Absent epiphysis of the distal phalanx of the 4th toe", "HP:0100170": "Bracket epiphysis of the distal phalanx of the 4th toe", "HP:0100171": "Cone-shaped epiphysis of the distal phalanx of the 4th toe", "HP:0100172": "Enlarged epiphysis of the distal phalanx of the 4th toe", "HP:0100173": "Fragmentation of the epiphysis of the distal phalanx of the 4th toe", "HP:0100174": "Irregular epiphysis of the distal phalanx of the 4th toe", "HP:0100175": "Ivory epiphysis of the distal phalanx of the 4th toe", "HP:0100176": "Pseudoepiphysis of the distal phalanx of the 4th toe", "HP:0100177": "Small epiphysis of the distal phalanx of the 4th toe", "HP:0100178": "Stippling of the epiphysis of the distal phalanx of the 4th toe", "HP:0100179": "Triangular epiphysis of the distal phalanx of the 4th toe", "HP:0100180": "Absent epiphysis of the middle phalanx of the 4th toe", "HP:0100181": "Bracket epiphysis of the middle phalanx of the 4th toe", "HP:0100182": "Cone-shaped epiphysis of the middle phalanx of the 4th toe", "HP:0100183": "Enlarged epiphysis of the middle phalanx of the 4th toe", "HP:0100184": "Fragmentation of the epiphysis of the middle phalanx of the 4th toe", "HP:0100185": "Irregular epiphysis of the middle phalanx of the 4th toe", "HP:0100186": "Ivory epiphysis of the middle phalanx of the 4th toe", "HP:0100187": "Pseudoepiphysis of the middle phalanx of the 4th toe", "HP:0100188": "Small epiphysis of the middle phalanx of the 4th toe", "HP:0100189": "Stippling of the epiphysis of the middle phalanx of the 4th toe", "HP:0100190": "Triangular epiphysis of the middle phalanx of the 4th toe", "HP:0100191": "Absent epiphysis of the proximal phalanx of the 4th toe", "HP:0100192": "Bracket epiphysis of the proximal phalanx of the 4th toe", "HP:0100193": "Cone-shaped epiphysis of the proximal phalanx of the 4th toe", "HP:0100194": "Enlarged epiphysis of the proximal phalanx of the 4th toe", "HP:0100195": "Fragmentation of the epiphysis of the proximal phalanx of the 4th toe", "HP:0100196": "Irregular epiphysis of the proximal phalanx of the 4th toe", "HP:0100197": "Ivory epiphysis of the proximal phalanx of the 4th toe", "HP:0100198": "Pseudoepiphysis of the proximal phalanx of the 4th toe", "HP:0100199": "Small epiphysis of the proximal phalanx of the 4th toe", "HP:0100200": "Stippling of the epiphysis of the proximal phalanx of the 4th toe", "HP:0100201": "Triangular epiphysis of the proximal phalanx of the 4th toe", "HP:0100202": "Absent epiphysis of the distal phalanx of the 5th toe", "HP:0100203": "Bracket epiphysis of the distal phalanx of the 5th toe", "HP:0100204": "Cone-shaped epiphysis of the distal phalanx of the 5th toe", "HP:0100205": "Enlarged epiphysis of the distal phalanx of the 5th toe", "HP:0100206": "Fragmentation of the epiphysis of the distal phalanx of the 5th toe", "HP:0100207": "Irregular epiphysis of the distal phalanx of the 5th toe", "HP:0100208": "Ivory epiphysis of the distal phalanx of the 5th toe", "HP:0100209": "Pseudoepiphysis of the distal phalanx of the 5th toe", "HP:0100210": "Small epiphysis of the distal phalanx of the 5th toe", "HP:0100211": "Stippling of the epiphysis of the distal phalanx of the 5th toe", "HP:0100212": "Triangular epiphysis of the distal phalanx of the 5th toe", "HP:0100213": "Absent epiphysis of the middle phalanx of the 5th toe", "HP:0100214": "Bracket epiphysis of the middle phalanx of the 5th toe", "HP:0100215": "Cone-shaped epiphysis of the middle phalanx of the 5th toe", "HP:0100216": "Enlarged epiphysis of the middle phalanx of the 5th toe", "HP:0100217": "Fragmentation of the epiphysis of the middle phalanx of the 5th toe", "HP:0100218": "Irregular epiphysis of the middle phalanx of the 5th toe", "HP:0100219": "Ivory epiphysis of the middle phalanx of the 5th toe", "HP:0100220": "Pseudoepiphysis of the middle phalanx of the 5th toe", "HP:0100221": "Small epiphysis of the middle phalanx of the 5th toe", "HP:0100222": "Stippling of the epiphysis of the middle phalanx of the 5th toe", "HP:0100223": "Triangular epiphysis of the middle phalanx of the 5th toe", "HP:0100224": "Absent epiphysis of the proximal phalanx of the 5th toe", "HP:0100225": "Bracket epiphysis of the proximal phalanx of the 5th toe", "HP:0100226": "Cone-shaped epiphysis of the proximal phalanx of the 5th toe", "HP:0100227": "Enlarged epiphysis of the proximal phalanx of the 5th toe", "HP:0100228": "Fragmentation of the epiphysis of the proximal phalanx of the 5th toe", "HP:0100229": "Irregular epiphysis of the proximal phalanx of the 5th toe", "HP:0100230": "Ivory epiphysis of the proximal phalanx of the 5th toe", "HP:0100231": "Pseudoepiphysis of the proximal phalanx of the 5th toe", "HP:0100232": "Small epiphysis of the proximal phalanx of the 5th toe", "HP:0100233": "Stippling of the epiphysis of the proximal phalanx of the 5th toe", "HP:0100234": "Triangular epiphysis of the proximal phalanx of the 5th toe", "HP:0100235": "Synostosis involving bones of the toes", "HP:0100237": "Proximal foot symphalangism", "HP:0100238": "Synostosis involving bones of the upper limbs", "HP:0100240": "Synostosis of joints", "HP:0100241": "Ectopic respiratory mucosa", "HP:0100242": "Sarcoma", "HP:0100243": "Leiomyosarcoma", "HP:0100244": "Fibrosarcoma", "HP:0100245": "Desmoid tumors", "HP:0100246": "Osteoma", "HP:0100247": "Recurrent singultus", "HP:0100248": "Hemiballismus", "HP:0100249": "Calcification of muscles", "HP:0100250": "Meningeal calcification", "HP:0100251": "Multiple central nervous system lipomas", "HP:0100252": "Diaphyseal dysplasia", "HP:0100253": "Abnormality of the medullary cavity of the long bones", "HP:0100254": "Stenosis of the medullary cavity of the long bones", "HP:0100255": "Metaphyseal dysplasia", "HP:0100256": "Senile plaques", "HP:0100257": "Ectrodactyly", "HP:0100258": "Preaxial polydactyly", "HP:0100259": "Postaxial polydactyly", "HP:0100260": "Mesoaxial polydactyly", "HP:0100261": "Abnormal tendon morphology", "HP:0100262": "Synostosis involving digits", "HP:0100263": "Distal symphalangism", "HP:0100264": "Proximal symphalangism", "HP:0100265": "Synostosis of metacarpals/metatarsals", "HP:0100266": "Synostosis of carpals/tarsals", "HP:0100267": "Lip pit", "HP:0100268": "Upper lip pit", "HP:0100269": "Paramedian lip pit", "HP:0100270": "Abnormality of dorsoventral patterning of the limbs", "HP:0100271": "Hyponasal speech", "HP:0100272": "Branchial sinus", "HP:0100273": "Neoplasm of the colon", "HP:0100274": "Gustatory lacrimation", "HP:0100275": "Diffuse cerebellar atrophy", "HP:0100276": "Skin pit", "HP:0100277": "Periauricular skin pits", "HP:0100279": "Ulcerative colitis", "HP:0100280": "Crohn's disease", "HP:0100281": "Chronic colitis", "HP:0100282": "Acute colitis", "HP:0100283": "EMG: continuous motor unit activity at rest", "HP:0100284": "EMG: myotonic discharges", "HP:0100285": "EMG: impaired neuromuscular transmission", "HP:0100287": "EMG: slow motor conduction", "HP:0100288": "EMG: myokymic discharges", "HP:0100289": "Abnormality of pattern reversal visual evoked potentials", "HP:0100290": "Abnormality of peripheral somatosensory evoked potentials", "HP:0100291": "Abnormality of central somatosensory evoked potentials", "HP:0100292": "Amyloidosis of peripheral nerves", "HP:0100293": "Hypertrophied muscle fibers", "HP:0100295": "Muscle fiber atrophy", "HP:0100296": "Perifascicular muscle fiber atrophy", "HP:0100297": "Increased endomysial connective tissue", "HP:0100298": "Motheaten muscle fibers", "HP:0100299": "Muscle fiber inclusion bodies", "HP:0100300": "Desmin bodies", "HP:0100301": "Muscle fiber tubular inclusions", "HP:0100302": "Muscle fiber tubuloreticular inclusions", "HP:0100303": "Muscle fiber cytoplasmatic inclusion bodies", "HP:0100304": "Muscle fiber intranuclear inclusion bodies", "HP:0100305": "Ring fibers", "HP:0100306": "Muscle fiber hyaline bodies", "HP:0100307": "Cerebellar hemisphere hypoplasia", "HP:0100308": "Cerebral cortical hemiatrophy", "HP:0100309": "Subdural hemorrhage", "HP:0100310": "Epidural hemorrhage", "HP:0100311": "Cerebral ventricular adhesions", "HP:0100312": "Cerebral germinoma", "HP:0100313": "Cerebral granulomatosis", "HP:0100314": "Cerebral inclusion bodies", "HP:0100315": "Lewy bodies", "HP:0100316": "Hirano bodies", "HP:0100317": "Argyrophilic inclusion bodies", "HP:0100318": "Lafora bodies", "HP:0100319": "Cerebral hyaline bodies", "HP:0100320": "Rosenthal fibers", "HP:0100321": "Abnormal dentate nucleus morphology", "HP:0100322": "Aplasia of the pyramidal tract", "HP:0100323": "Juvenile aseptic necrosis", "HP:0100324": "Scleroderma", "HP:0100326": "Immunologic hypersensitivity", "HP:0100327": "Cow milk allergy", "HP:0100328": "Carpometacarpal synostosis", "HP:0100329": "Tarsometatarsal synostosis", "HP:0100333": "Unilateral cleft lip", "HP:0100334": "Unilateral cleft palate", "HP:0100335": "Non-midline cleft lip", "HP:0100336": "Bilateral cleft lip", "HP:0100337": "Bilateral cleft palate", "HP:0100338": "Non-midline cleft palate", "HP:0100339": "Abnormality of the os naviculare pedis", "HP:0100340": "Fibular deviation of the 4th toe", "HP:0100341": "Tibial deviation of the 4th toe", "HP:0100342": "Fibular deviation of the 3rd toe", "HP:0100343": "Tibial deviation of the 3rd toe", "HP:0100344": "Fibular deviation of the 2nd toe", "HP:0100345": "Tibial deviation of the 2nd toe", "HP:0100346": "Fibular deviation of the 5th toe", "HP:0100347": "Tibial deviation of the 5th toe", "HP:0100348": "Contracture of the proximal interphalangeal joint of the 2nd toe", "HP:0100349": "Contracture of the proximal interphalangeal joint of the 3rd toe", "HP:0100350": "Contracture of the proximal interphalangeal joint of the 4th toe", "HP:0100351": "Contractures of the proximal interphalangeal joint of the 5th toe", "HP:0100352": "Contracture of the distal interphalangeal joint of the 2nd toe", "HP:0100353": "Contracture of the distal interphalangeal joint of the 3rd toe", "HP:0100354": "Contracture of the distal interphalangeal joint of the 4th toe", "HP:0100355": "Contractures of the distal interphalangeal joint of the 5th toe", "HP:0100356": "Contracture of the metatarsophalangeal joint of the 2nd toe", "HP:0100357": "Contracture of the metatarsophalangeal joint of the 3rd toe", "HP:0100358": "Contracture of the metatarsophalangeal joint of the 4th toe", "HP:0100359": "Contracture of the metatarsophalangeal joint of the 5th toe", "HP:0100360": "Upper-limb joint contracture", "HP:0100362": "Aplasia of the phalanges of the 3rd toe", "HP:0100363": "Aplasia of the phalanges of the 4th toe", "HP:0100364": "Aplasia of the phalanges of the 5th toe", "HP:0100366": "Short phalanx of the 3rd toe", "HP:0100367": "Short phalanx of the 4th toe", "HP:0100368": "Short phalanx of the 5th toe", "HP:0100369": "Aplasia/Hypoplasia of the distal phalanx of the 3rd toe", "HP:0100370": "Aplasia/Hypoplasia of the distal phalanx of the 4th toe", "HP:0100371": "Aplasia/Hypoplasia of the distal phalanx of the 5th toe", "HP:0100372": "Aplasia/Hypoplasia of the middle phalanx of the 3rd toe", "HP:0100373": "Aplasia/Hypoplasia of the middle phalanx of the 4th toe", "HP:0100374": "Aplasia/Hypoplasia of the middle phalanx of the 5th toe", "HP:0100375": "Aplasia/hypoplasia of the proximal phalanx of the 3rd toe", "HP:0100376": "Aplasia/hypoplasia of the proximal phalanx of the 4th toe", "HP:0100377": "Aplasia/hypoplasia of the proximal phalanx of the 5th toe", "HP:0100378": "Absent distal phalanx of the 3rd toe", "HP:0100379": "Aplasia of the distal phalanx of the 4th toe", "HP:0100380": "Aplasia of the distal phalanx of the 5th toe", "HP:0100381": "Absent middle phalanx of the 3rd toe", "HP:0100382": "Aplasia of the middle phalanx of the 4th toe", "HP:0100383": "Aplasia of the middle phalanx of the 5th toe", "HP:0100384": "Absent proximal phalanx of the 3rd toe", "HP:0100385": "Aplasia of the proximal phalanx of the 4th toe", "HP:0100386": "Aplasia of the proximal phalanx of the 5th toe", "HP:0100387": "Aplasia of the middle phalanges of the toes", "HP:0100388": "Aplasia of the proximal phalanges of the toes", "HP:0100389": "Short distal phalanx of the 3rd toe", "HP:0100390": "Short distal phalanx of the 4th toe", "HP:0100391": "Short distal phalanx of the 5th toe", "HP:0100392": "Short middle phalanx of the 3rd toe", "HP:0100393": "Short middle phalanx of the 4th toe", "HP:0100394": "Short middle phalanx of the 5th toe", "HP:0100395": "Short proximal phalanx of the 3rd toe", "HP:0100396": "Short proximal phalanx of the 4th toe", "HP:0100397": "Short proximal phalanx of the 5th toe", "HP:0100398": "Duplication of the distal phalanx of the 3rd toe", "HP:0100399": "Duplication of the distal phalanx of the 4th toe", "HP:0100400": "Duplication of the distal phalanx of the 5th toe", "HP:0100401": "Duplication of the middle phalanx of the 3rd toe", "HP:0100402": "Duplication of the middle phalanx of the 4th toe", "HP:0100403": "Duplication of the middle phalanx of the 5th toe", "HP:0100404": "Duplication of the proximal phalanx of the 3rd toe", "HP:0100405": "Duplication of the proximal phalanx of the 4th toe", "HP:0100406": "Duplication of the proximal phalanx of the 5th toe", "HP:0100407": "Complete duplication of the distal phalanx of the 3rd toe", "HP:0100408": "Complete duplication of the distal phalanx of the 4th toe", "HP:0100409": "Complete duplication of the distal phalanx of the 5th toe", "HP:0100410": "Complete duplication of the middle phalanx of the 3rd toe", "HP:0100411": "Complete duplication of the middle phalanx of the 4th toe", "HP:0100412": "Complete duplication of the middle phalanx of the 5th toe", "HP:0100413": "Complete duplication of the proximal phalanx of the 3rd toe", "HP:0100414": "Complete duplication of the proximal phalanx of the 4th toe", "HP:0100415": "Complete duplication of the proximal phalanx of the 5th toe", "HP:0100416": "Partial duplication of the distal phalanx of the 3rd toe", "HP:0100417": "Partial duplication of the distal phalanx of the 4th toe", "HP:0100418": "Partial duplication of the distal phalanx of the 5th toe", "HP:0100419": "Partial duplication of the middle phalanx of the 3rd toe", "HP:0100420": "Partial duplication of the middle phalanx of the 4th toe", "HP:0100421": "Partial duplication of the middle phalanx of the 5th toe", "HP:0100422": "Partial duplication of the proximal phalanx of the 3rd toe", "HP:0100423": "Partial duplication of the proximal phalanx of the 4th toe", "HP:0100424": "Partial duplication of the proximal phalanx of the 5th toe", "HP:0100425": "Broad middle phalanx of the 3rd toe", "HP:0100426": "Broad middle phalanx of the 4th toe", "HP:0100427": "Broad middle phalanx of the 5th toe", "HP:0100428": "Broad proximal phalanx of the 3rd toe", "HP:0100429": "Broad proximal phalanx of the 4th toe", "HP:0100430": "Broad proximal phalanx of the 5th toe", "HP:0100431": "Broad distal phalanx of the 3rd toe", "HP:0100432": "Broad distal phalanx of the 4th toe", "HP:0100433": "Broad distal phalanx of the 5th toe", "HP:0100434": "Bullet-shaped middle phalanx of the 3rd toe", "HP:0100435": "Bullet-shaped middle phalanx of the 4th toe", "HP:0100436": "Bullet-shaped middle phalanx of the 5th toe", "HP:0100437": "Bullet-shaped proximal phalanx of the 3rd toe", "HP:0100438": "Bullet-shaped proximal phalanx of the 4th toe", "HP:0100439": "Bullet-shaped proximal phalanx of the 5th toe", "HP:0100440": "Bullet-shaped distal phalanx of the 3rd toe", "HP:0100441": "Bullet-shaped distal phalanx of the 4th toe", "HP:0100442": "Bullet-shaped distal phalanx of the 5th toe", "HP:0100443": "Curved middle phalanx of the 3rd toe", "HP:0100444": "Curved middle phalanx of the 4th toe", "HP:0100445": "Curved middle phalanx of the 5th toe", "HP:0100446": "Curved proximal phalanx of the 3rd toe", "HP:0100447": "Curved proximal phalanx of the 4th toe", "HP:0100448": "Curved proximal phalanx of the 5th toe", "HP:0100449": "Curved distal phalanx of the 3rd toe", "HP:0100450": "Curved distal phalanx of the 4th toe", "HP:0100451": "Curved distal phalanx of the 5th toe", "HP:0100452": "Osteolytic defects of the middle phalanx of the 3rd toe", "HP:0100453": "Osteolytic defects of the middle phalanx of the 4th toe", "HP:0100454": "Osteolytic defects of the middle phalanx of the 5th toe", "HP:0100455": "Osteolytic defects of the proximal phalanx of the 3rd toe", "HP:0100456": "Osteolytic defects of the proximal phalanx of the 4th toe", "HP:0100457": "Osteolytic defects of the proximal phalanx of the 5th toe", "HP:0100458": "Osteolytic defects of the distal phalanx of the 3rd toe", "HP:0100459": "Osteolytic defects of the distal phalanx of the 4th toe", "HP:0100460": "Osteolytic defects of the distal phalanx of the 5th toe", "HP:0100461": "Patchy sclerosis of the middle phalanx of the 3rd toe", "HP:0100462": "Patchy sclerosis of the middle phalanx of the 4th toe", "HP:0100463": "Patchy sclerosis of the middle phalanx of the 5th toe", "HP:0100464": "Patchy sclerosis of the proximal phalanx of the 3rd toe", "HP:0100465": "Patchy sclerosis of the proximal phalanx of the 4th toe", "HP:0100466": "Patchy sclerosis of the proximal phalanx of the 5th toe", "HP:0100467": "Patchy sclerosis of the distal phalanx of the 3rd toe", "HP:0100468": "Patchy sclerosis of the distal phalanx of the 4th toe", "HP:0100469": "Patchy sclerosis of the distal phalanx of the 5th toe", "HP:0100470": "Symphalangism affecting the middle phalanx of the 3rd toe", "HP:0100471": "Symphalangism affecting the middle phalanx of the 4th toe", "HP:0100472": "Symphalangism affecting the middle phalanx of the 5th toe", "HP:0100473": "Symphalangism affecting the proximal phalanx of the 3rd toe", "HP:0100474": "Symphalangism affecting the proximal phalanx of the 4th toe", "HP:0100475": "Symphalangism affecting the proximal phalanx of the 5th toe", "HP:0100476": "Symphalangism affecting the distal phalanx of the 3rd toe", "HP:0100477": "Symphalangism affecting the distal phalanx of the 4th toe", "HP:0100478": "Symphalangism affecting the distal phalanx of the 5th toe", "HP:0100480": "Proximal/middle symphalangism of 3rd toe", "HP:0100481": "Proximal/middle symphalangism of 4th toe", "HP:0100482": "Proximal/middle symphalangism of 5th toe", "HP:0100483": "Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal", "HP:0100484": "Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal", "HP:0100485": "Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal", "HP:0100486": "Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal", "HP:0100487": "Triangular shaped distal phalanx of the 5th toe", "HP:0100488": "Synostosis of the proximal phalanx of the hallux with the 1st metatarsal", "HP:0100489": "Proximal/middle symphalangism of 2nd toe", "HP:0100490": "Camptodactyly of finger", "HP:0100491": "Abnormality of lower limb joint", "HP:0100493": "Hypoammonemia", "HP:0100494": "Abnormal mast cell morphology", "HP:0100495": "Mastocytosis", "HP:0100496": "Abnormality of the vitamin B3 metabolism", "HP:0100497": "Vitamin B3 deficiency", "HP:0100498": "Deviation of toes", "HP:0100499": "Tibial deviation of toes", "HP:0100500": "Fibular deviation of toes", "HP:0100501": "Recurrent bronchiolitis", "HP:0100502": "Vitamin B12 deficiency", "HP:0100503": "Low levels of vitamin B1", "HP:0100504": "Low levels of vitamin B2", "HP:0100505": "Low levels of vitamin B5", "HP:0100506": "Low levels of vitamin B8", "HP:0100507": "Reduced blood folate concentration", "HP:0100508": "Abnormality of vitamin metabolism", "HP:0100509": "Abnormality of vitamin C metabolism", "HP:0100510": "Low levels of vitamin C", "HP:0100511": "Abnormality of vitamin D metabolism", "HP:0100512": "Low levels of vitamin D", "HP:0100513": "Low levels of vitamin E", "HP:0100514": "Abnormality of vitamin E metabolism", "HP:0100515": "Pollakisuria", "HP:0100516": "Neoplasm of the ureter", "HP:0100517": "Neoplasm of the urethra", "HP:0100518": "Dysuria", "HP:0100519": "Anuria", "HP:0100520": "Oliguria", "HP:0100521": "Neoplasm of the thymus", "HP:0100522": "Thymoma", "HP:0100523": "Liver abscess", "HP:0100524": "Limb duplication", "HP:0100525": "Urachus fistula", "HP:0100526": "Neoplasm of the lung", "HP:0100527": "Neoplasia of the pleura", "HP:0100528": "Pleuropulmonary blastoma", "HP:0100529": "Abnormal blood phosphate concentration", "HP:0100530": "Abnormal calcium-phosphate regulating hormone level", "HP:0100531": "Wind-swept deformity of the knees", "HP:0100532": "Scleritis", "HP:0100533": "Inflammatory abnormality of the eye", "HP:0100534": "Episcleritis", "HP:0100535": "Tibiofibular diastasis", "HP:0100536": "Abnormality of the fascia", "HP:0100537": "Fasciitis", "HP:0100538": "Abnormality of the supraorbital ridges", "HP:0100539": "Periorbital edema", "HP:0100540": "Palpebral edema", "HP:0100541": "Femoral hernia", "HP:0100542": "Abnormal localization of kidney", "HP:0100543": "Cognitive impairment", "HP:0100544": "Neoplasm of the heart", "HP:0100545": "Arterial stenosis", "HP:0100546": "Carotid artery stenosis", "HP:0100547": "Abnormal forebrain morphology", "HP:0100548": "Exstrophy", "HP:0100550": "Tendon rupture", "HP:0100551": "Neoplasm of the trachea", "HP:0100552": "Neoplasm of the tracheobronchial system", "HP:0100553": "Hemihypertrophy of lower limb", "HP:0100554": "Hemihypertrophy of upper limb", "HP:0100555": "Asymmetric growth", "HP:0100556": "Hemiatrophy", "HP:0100557": "Hemiatrophy of lower limb", "HP:0100558": "Hemiatrophy of upper limb", "HP:0100559": "Lower limb asymmetry", "HP:0100560": "Upper limb asymmetry", "HP:0100561": "Spinal cord lesion", "HP:0100562": "Diplomyelia", "HP:0100563": "Diastomatomyelia", "HP:0100564": "Triplomyelia", "HP:0100565": "Hydromyelia", "HP:0100566": "Amyelia", "HP:0100568": "Neoplasm of the endocrine system", "HP:0100569": "Abnormally ossified vertebrae", "HP:0100570": "Carcinoid tumor", "HP:0100571": "Cardiac diverticulum", "HP:0100572": "Fibrous cardiac diverticulum", "HP:0100573": "Muscular cardiac diverticulum", "HP:0100574": "Biliary tract neoplasm", "HP:0100575": "Neoplasm of the gallbladder", "HP:0100576": "Amaurosis fugax", "HP:0100577": "Urinary bladder inflammation", "HP:0100578": "Lipoatrophy", "HP:0100579": "Mucosal telangiectasiae", "HP:0100580": "Barrett esophagus", "HP:0100581": "Dilatation of renal calices", "HP:0100582": "Nasal polyposis", "HP:0100583": "Corneal perforation", "HP:0100584": "Endocarditis", "HP:0100585": "Telangiectasia of the skin", "HP:0100586": "Sterile pyuria", "HP:0100587": "Abnormal preputium morphology", "HP:0100588": "Paraphimosis", "HP:0100589": "Urogenital fistula", "HP:0100590": "Rectal fistula", "HP:0100592": "Peritoneal abscess", "HP:0100593": "Calcification of cartilage", "HP:0100594": "Esophageal web", "HP:0100595": "Camptocormia", "HP:0100596": "Absent nares", "HP:0100598": "Pulmonary edema", "HP:0100599": "Bifid penis", "HP:0100600": "Penoscrotal transposition", "HP:0100601": "Eclampsia", "HP:0100602": "Preeclampsia", "HP:0100603": "Toxemia of pregnancy", "HP:0100604": "Neoplasm of the lip", "HP:0100605": "Neoplasm of the larynx", "HP:0100606": "Neoplasm of the respiratory system", "HP:0100607": "Dysmenorrhea", "HP:0100608": "Metrorrhagia", "HP:0100610": "Maternal hyperphenylalaninemia", "HP:0100611": "Multiple glomerular cysts", "HP:0100612": "Odontogenic neoplasm", "HP:0100613": "Death in early adulthood", "HP:0100614": "Myositis", "HP:0100615": "Ovarian neoplasm", "HP:0100616": "Testicular teratoma", "HP:0100617": "Testicular seminoma", "HP:0100618": "Leydig cell neoplasia", "HP:0100619": "Sertoli cell neoplasm", "HP:0100620": "Germinoma", "HP:0100621": "Dysgerminoma", "HP:0100622": "Maternal seizure", "HP:0100623": "Abnormal corpus cavernosum morphology", "HP:0100624": "Corpus cavernosum sclerosis", "HP:0100625": "Enlarged thorax", "HP:0100626": "Chronic hepatic failure", "HP:0100627": "Displacement of the urethral meatus", "HP:0100628": "Esophageal diverticulum", "HP:0100629": "Midline facial cleft", "HP:0100630": "Neoplasia of the nasopharynx", "HP:0100631": "Neoplasm of the adrenal gland", "HP:0100632": "Pulmonary sequestration", "HP:0100633": "Esophagitis", "HP:0100634": "Neuroendocrine neoplasm", "HP:0100635": "Carotid paraganglioma", "HP:0100636": "Pulmonary paraglioma", "HP:0100638": "Neoplasm of the pharynx", "HP:0100639": "Erectile dysfunction", "HP:0100640": "Laryngeal cyst", "HP:0100641": "Neoplasm of the adrenal cortex", "HP:0100642": "Neoplasm of the adrenal medulla", "HP:0100643": "Abnormality of nail color", "HP:0100644": "Melanonychia", "HP:0100645": "Cystocele", "HP:0100646": "Thyroiditis", "HP:0100647": "Graves disease", "HP:0100648": "Neoplasm of the tongue", "HP:0100649": "Neoplasm of the oral cavity", "HP:0100650": "Vaginal neoplasm", "HP:0100651": "Type I diabetes mellitus", "HP:0100653": "Optic neuritis", "HP:0100654": "Retrobulbar optic neuritis", "HP:0100656": "Thoracoabdominal wall defect", "HP:0100657": "Thoracoabdominal eventration", "HP:0100658": "Cellulitis", "HP:0100659": "Abnormal cerebral vascular morphology", "HP:0100660": "Dyskinesia", "HP:0100661": "Trigeminal neuralgia", "HP:0100662": "Chondritis", "HP:0100663": "Synotia", "HP:0100665": "Angioedema", "HP:0100668": "Intestinal duplication", "HP:0100669": "Abnormal pigmentation of the oral mucosa", "HP:0100670": "Coarse metaphyseal trabecularization", "HP:0100671": "Abnormal trabecular bone morphology", "HP:0100672": "Vaginal hernia", "HP:0100673": "Vaginal hydrocele", "HP:0100674": "Vaginal hematocele", "HP:0100675": "Vaginal pyocele", "HP:0100676": "Vaginal lymphocele", "HP:0100677": "Vulval varicose vein", "HP:0100678": "Premature skin wrinkling", "HP:0100679": "Lack of skin elasticity", "HP:0100681": "Esophageal duplication", "HP:0100682": "Tracheal atresia", "HP:0100684": "Salivary gland neoplasm", "HP:0100685": "Abnormal Sharpey fiber morphology", "HP:0100686": "Enthesitis", "HP:0100687": "Polyotia", "HP:0100689": "Decreased corneal thickness", "HP:0100690": "Mosaic central corneal dystrophy", "HP:0100691": "Abnormality of the curvature of the cornea", "HP:0100692": "Increased corneal curvature", "HP:0100693": "Iridodonesis", "HP:0100694": "Tibial torsion", "HP:0100695": "Lipedema", "HP:0100697": "Neurofibrosarcoma", "HP:0100698": "Subcutaneous neurofibroma", "HP:0100699": "Scarring", "HP:0100700": "Abnormal arachnoid mater morphology", "HP:0100701": "Abnormal pia mater", "HP:0100702": "Arachnoid cyst", "HP:0100703": "Tongue thrusting", "HP:0100704": "Cerebral visual impairment", "HP:0100705": "Abnormal glial cell morphology", "HP:0100706": "Abnormal oligodendroglia morphology", "HP:0100707": "Abnormal astrocyte morphology", "HP:0100708": "Abnormal microglia morphology", "HP:0100709": "Reduction of oligodendroglia", "HP:0100710": "Impulsivity", "HP:0100711": "Abnormal thoracic spine morphology", "HP:0100712": "Abnormal lumbar spine morphology", "HP:0100716": "Self-injurious behavior", "HP:0100717": "Abnormal cementum morphology", "HP:0100718": "Uterine rupture", "HP:0100719": "Lens coloboma", "HP:0100720": "Hypoplasia of the ear cartilage", "HP:0100721": "Mediastinal lymphadenopathy", "HP:0100723": "Gastrointestinal stroma tumor", "HP:0100724": "Hypercoagulability", "HP:0100725": "Lichenification", "HP:0100726": "Kaposi's sarcoma", "HP:0100727": "Histiocytosis", "HP:0100728": "Germ cell neoplasia", "HP:0100729": "Large face", "HP:0100730": "Bronchogenic cyst", "HP:0100731": "Transverse facial cleft", "HP:0100732": "Pancreatic fibrosis", "HP:0100733": "Neoplasm of the parathyroid gland", "HP:0100734": "Abnormality of vertebral epiphysis morphology", "HP:0100735": "Hypertensive crisis", "HP:0100736": "Abnormal soft palate morphology", "HP:0100737": "Abnormal hard palate morphology", "HP:0100738": "Abnormal eating behavior", "HP:0100739": "Bulimia", "HP:0100742": "Vascular neoplasm", "HP:0100743": "Neoplasm of the rectum", "HP:0100744": "Abnormality of the humeroradial joint", "HP:0100745": "Abnormality of the humeroulnar joint", "HP:0100746": "Macrodactyly of finger", "HP:0100747": "Macrodactyly of toe", "HP:0100748": "Muscular edema", "HP:0100749": "Chest pain", "HP:0100750": "Atelectasis", "HP:0100751": "Esophageal neoplasm", "HP:0100752": "Abnormal liver lobulation", "HP:0100753": "Schizophrenia", "HP:0100754": "Mania", "HP:0100755": "Abnormality of salivation", "HP:0100757": "Pancreatoblastoma", "HP:0100758": "Gangrene", "HP:0100759": "Clubbing of fingers", "HP:0100760": "Clubbing of toes", "HP:0100761": "Visceral angiomatosis", "HP:0100762": "Hemobilia", "HP:0100763": "Abnormality of the lymphatic system", "HP:0100764": "Lymphangioma", "HP:0100765": "Abnormality of the tonsils", "HP:0100766": "Abnormal lymphatic vessel morphology", "HP:0100767": "Abnormal placenta morphology", "HP:0100768": "Choriocarcinoma", "HP:0100769": "Synovitis", "HP:0100770": "Hyperperistalsis", "HP:0100771": "Hypoperistalsis", "HP:0100773": "Cartilage destruction", "HP:0100774": "Hyperostosis", "HP:0100775": "Dural ectasia", "HP:0100776": "Recurrent pharyngitis", "HP:0100777": "Exostoses", "HP:0100778": "Cryoglobulinemia", "HP:0100779": "Urogenital sinus anomaly", "HP:0100780": "Conjunctival hamartoma", "HP:0100781": "Abnormal sacroiliac joint morphology", "HP:0100783": "Breast aplasia", "HP:0100784": "Peripheral arteriovenous fistula", "HP:0100785": "Insomnia", "HP:0100786": "Hypersomnia", "HP:0100787": "Prostate neoplasm", "HP:0100788": "Fused lips", "HP:0100789": "Torus palatinus", "HP:0100790": "Hernia", "HP:0100792": "Acantholysis", "HP:0100795": "Abnormally straight spine", "HP:0100796": "Orchitis", "HP:0100797": "Toenail dysplasia", "HP:0100798": "Fingernail dysplasia", "HP:0100799": "Neoplasm of the middle ear", "HP:0100800": "Aplasia/Hypoplasia of the pancreas", "HP:0100801": "Pancreatic aplasia", "HP:0100802": "Malposition of the stomach", "HP:0100803": "Abnormality of the periungual region", "HP:0100804": "Ungual fibroma", "HP:0100806": "Sepsis", "HP:0100807": "Long fingers", "HP:0100808": "Gastric diverticulum", "HP:0100809": "Scalp tenderness", "HP:0100810": "Pointed helix", "HP:0100811": "Aplasia/Hypoplasia of the colon", "HP:0100812": "Halitosis", "HP:0100813": "Testicular torsion", "HP:0100814": "Blue nevus", "HP:0100816": "Lip hyperpigmentation", "HP:0100817": "Renovascular hypertension", "HP:0100818": "Long thorax", "HP:0100819": "Intestinal fistula", "HP:0100820": "Glomerulopathy", "HP:0100821": "Urethrocele", "HP:0100822": "Rectocele", "HP:0100823": "Genital hernia", "HP:0100825": "Cheilitis", "HP:0100826": "Neoplasm of the nail", "HP:0100827": "Lymphocytosis", "HP:0100828": "Increased T cell count", "HP:0100829": "Galactorrhea", "HP:0100830": "Round ear", "HP:0100831": "Abnormality of vitamin K metabolism", "HP:0100832": "Vitreous floaters", "HP:0100833": "Neoplasm of the small intestine", "HP:0100834": "Neoplasm of the large intestine", "HP:0100835": "Benign neoplasm of the central nervous system", "HP:0100836": "Malignant neoplasm of the central nervous system", "HP:0100837": "Atrophodermia vermiculata", "HP:0100838": "Recurrent cutaneous abscess formation", "HP:0100839": "Hepatic agenesis", "HP:0100840": "Aplasia/Hypoplasia of the eyebrow", "HP:0100841": "Microgastria", "HP:0100842": "Septo-optic dysplasia", "HP:0100844": "Pancreatic fistula", "HP:0100845": "Anaphylactic shock", "HP:0100847": "Palmoplantar pustulosis", "HP:0100848": "Neoplasm of the male external genitalia", "HP:0100849": "Neoplasm of the scrotum", "HP:0100850": "Neoplasm of the penis", "HP:0100851": "Abnormal emotion/affect behavior", "HP:0100852": "Abnormal fear/anxiety-related behavior", "HP:0100853": "Hypoplastic areola", "HP:0100854": "Aplasia of the musculature", "HP:0100855": "Triceps hypoplasia", "HP:0100856": "Poorly ossified vertebrae", "HP:0100857": "Flat sella turcica", "HP:0100858": "Dilatation of celiac artery", "HP:0100859": "Dilatation of superior mesenteric artery", "HP:0100860": "Dilatation of Inferior mesenteric artery", "HP:0100861": "Sclerotic vertebral body", "HP:0100862": "Aplasia of the femoral head", "HP:0100863": "Aplasia of the femoral neck", "HP:0100864": "Short femoral neck", "HP:0100865": "Broad ischia", "HP:0100866": "Short iliac bones", "HP:0100867": "Duodenal stenosis", "HP:0100869": "Palmar telangiectasia", "HP:0100870": "Plantar telangiectasia", "HP:0100871": "Abnormal palm morphology", "HP:0100872": "Abnormality of the plantar skin of foot", "HP:0100874": "Thick hair", "HP:0100875": "Hemimacroglossia", "HP:0100876": "Infra-orbital crease", "HP:0100877": "Renal diverticulum", "HP:0100878": "Enlarged uterus", "HP:0100879": "Enlarged ovaries", "HP:0100880": "Nephrogenic rest", "HP:0100881": "Congenital mesoblastic nephroma", "HP:0100882": "Fibrous hamartoma", "HP:0100883": "Chorangioma", "HP:0100884": "Compensatory scoliosis", "HP:0100885": "Lateral venous anomaly", "HP:0100886": "Abnormality of globe location", "HP:0100887": "Abnormality of globe size", "HP:0100888": "Interdigital loops", "HP:0100889": "Abnormality of the ductus choledochus", "HP:0100890": "Cyst of the ductus choledochus", "HP:0100891": "Bifid xiphoid process", "HP:0100892": "Abnormality of the xiphoid process", "HP:0100893": "Prominent xiphoid process", "HP:0100894": "Broad xiphoid process", "HP:0100896": "Rectal polyposis", "HP:0100898": "Connective tissue nevi", "HP:0100899": "Sclerosis of finger phalanx", "HP:0100900": "Sclerosis of the distal phalanx of the 2nd finger", "HP:0100901": "Sclerosis of the distal phalanx of the 3rd finger", "HP:0100902": "Sclerosis of the distal phalanx of the 4th finger", "HP:0100903": "Sclerosis of the distal phalanx of the 5th finger", "HP:0100904": "Sclerosis of the middle phalanx of the 2nd finger", "HP:0100905": "Sclerosis of the middle phalanx of the 3rd finger", "HP:0100906": "Sclerosis of the middle phalanx of the 4th finger", "HP:0100907": "Sclerosis of the middle phalanx of the 5th finger", "HP:0100908": "Sclerosis of the proximal phalanx of the 2nd finger", "HP:0100909": "Sclerosis of the proximal phalanx of the 3rd finger", "HP:0100910": "Sclerosis of the proximal phalanx of the 4th finger", "HP:0100911": "Sclerosis of the proximal phalanx of the 5th finger", "HP:0100912": "Sclerosis of the distal phalanx of the thumb", "HP:0100913": "Sclerosis of the proximal phalanx of the thumb", "HP:0100914": "Sclerosis of the 1st metacarpal", "HP:0100915": "Sclerosis of distal finger phalanx", "HP:0100916": "Sclerosis of middle finger phalanx", "HP:0100917": "Sclerosis of proximal finger phalanx", "HP:0100918": "Sclerosis of 2nd finger phalanx", "HP:0100919": "Sclerosis of 3rd finger phalanx", "HP:0100920": "Sclerosis of 4th finger phalanx", "HP:0100921": "Sclerosis of 5th finger phalanx", "HP:0100922": "Sclerosis of thumb phalanx", "HP:0100923": "Clavicular sclerosis", "HP:0100924": "Sclerosis of toe phalanx", "HP:0100925": "Sclerosis of foot bone", "HP:0100926": "Sclerosis of 2nd toe phalanx", "HP:0100927": "Sclerosis of 3rd toe phalanx", "HP:0100928": "Sclerosis of 4th toe phalanx", "HP:0100929": "Sclerosis of 5th toe phalanx", "HP:0100930": "Sclerosis of hallux phalanx", "HP:0100931": "Sclerosis of the proximal phalanx of the 2nd toe", "HP:0100932": "Sclerosis of the proximal phalanx of the 3rd toe", "HP:0100933": "Sclerosis of the proximal phalanx of the 4th toe", "HP:0100934": "Sclerosis of the proximal phalanx of the 5th toe", "HP:0100935": "Sclerosis of the middle phalanx of the 2nd toe", "HP:0100936": "Sclerosis of the middle phalanx of the 3rd toe", "HP:0100937": "Sclerosis of the middle phalanx of the 4th toe", "HP:0100938": "Sclerosis of the middle phalanx of the 5th toe", "HP:0100939": "Sclerosis of the distal phalanx of the 2nd toe", "HP:0100940": "Sclerosis of the distal phalanx of the 3rd toe", "HP:0100941": "Sclerosis of the distal phalanx of the 4th toe", "HP:0100942": "Sclerosis of the distal phalanx of the 5th toe", "HP:0100943": "Sclerosis of the proximal phalanx of the hallux", "HP:0100944": "Sclerosis of the distal phalanx of the hallux", "HP:0100945": "Sclerosis of the 1st metatarsal", "HP:0100946": "Sclerosis of proximal toe phalanx", "HP:0100947": "Sclerosis of middle toe phalanx", "HP:0100948": "Sclerosis of distal toe phalanx", "HP:0100950": "Decreased 3-hydroxyacyl-CoA dehydrogenase level", "HP:0100951": "Enlarged fossa interpeduncularis", "HP:0100952": "Enlarged sylvian cistern", "HP:0100953": "Enlarged interhemispheric fissure", "HP:0100954": "Open operculum", "HP:0100955": "Giant cell granuloma of mandible", "HP:0100957": "Abnormal renal medulla morphology", "HP:0100958": "Narrow foramen obturatorium", "HP:0100959": "Dense metaphyseal bands", "HP:0100960": "Lateral ventricular asymmetry", "HP:0100961": "Enlarged hippocampus", "HP:0100962": "Shyness", "HP:0100963": "Hyperesthesia", "HP:0200000": "Dysharmonic bone age", "HP:0200001": "Dysharmonic accelerated bone age", "HP:0200003": "Splayed epiphyses", "HP:0200005": "Abnormal shape of the palpebral fissure", "HP:0200006": "Slanting of the palpebral fissure", "HP:0200007": "Abnormal size of the palpebral fissures", "HP:0200008": "Intestinal polyposis", "HP:0200011": "Abnormal length of corpus callosum", "HP:0200012": "Short corpus callosum", "HP:0200013": "Neoplasm of fatty tissue", "HP:0200015": "Symmetric great toe depigmentation", "HP:0200016": "Acrokeratosis", "HP:0200017": "Cerebral white matter agenesis", "HP:0200018": "Protanomaly", "HP:0200020": "Corneal erosion", "HP:0200021": "Down-sloping shoulders", "HP:0200022": "Choroid plexus papilloma", "HP:0200023": "Priapism", "HP:0200024": "Premature chromatid separation", "HP:0200025": "Mandibular pain", "HP:0200026": "Ocular pain", "HP:0200028": "Pretibial myxedema", "HP:0200029": "Vasculitis in the skin", "HP:0200030": "Punctate vasculitis skin lesions", "HP:0200032": "Kayser-Fleischer ring", "HP:0200034": "Papule", "HP:0200035": "Skin plaque", "HP:0200036": "Skin nodule", "HP:0200037": "Skin vesicle", "HP:0200039": "Pustule", "HP:0200040": "Epidermoid cyst", "HP:0200041": "Skin erosion", "HP:0200042": "Skin ulcer", "HP:0200043": "Verrucae", "HP:0200044": "Porokeratosis", "HP:0200046": "Cat cry", "HP:0200047": "Chondritis of pinna", "HP:0200048": "Cyanotic episode", "HP:0200049": "Upper limb hypertonia", "HP:0200050": "Bracket metacarpal epiphyses", "HP:0200053": "Hemihypotrophy of lower limb", "HP:0200054": "Foot monodactyly", "HP:0200055": "Small hand", "HP:0200056": "Macular scar", "HP:0200057": "Marcus Gunn pupil", "HP:0200058": "Angiosarcoma", "HP:0200059": "Metastatic angiosarcoma", "HP:0200063": "Colorectal polyposis", "HP:0200064": "Asymmetry of iris pigmentation", "HP:0200065": "Chorioretinal degeneration", "HP:0200066": "Ribbonlike corneal degeneration", "HP:0200067": "Recurrent spontaneous abortion", "HP:0200068": "Nonprogressive visual loss", "HP:0200070": "Peripheral retinal atrophy", "HP:0200071": "Peripheral vitreoretinal degeneration", "HP:0200072": "Episodic quadriplegia", "HP:0200073": "Respiratory insufficiency due to defective ciliary clearance", "HP:0200083": "Severe limb shortening", "HP:0200084": "Giant cell hepatitis", "HP:0200085": "Limb tremor", "HP:0200094": "Frontal open bite", "HP:0200096": "Triangular-shaped open mouth", "HP:0200097": "Oral mucosal blisters", "HP:0200098": "Absent skin pigmentation", "HP:0200101": "Decreased/absent ankle reflexes", "HP:0200102": "Sparse or absent eyelashes", "HP:0200104": "Absent fifth fingernail", "HP:0200105": "Absent fifth toenail", "HP:0200106": "Absent/shortened dynein arms", "HP:0200107": "Shortened inner dynein arms", "HP:0200108": "Shortened outer dynein arms", "HP:0200109": "Absent/shortened outer dynein arms", "HP:0200111": "Absent stapes head", "HP:0200113": "Aphalangy of hands and feet", "HP:0200114": "Metabolic alkalosis", "HP:0200116": "Distal ileal atresia", "HP:0200117": "Recurrent upper and lower respiratory tract infections", "HP:0200118": "Malabsorption of Vitamin B12", "HP:0200119": "Acute hepatitis", "HP:0200120": "Chronic active hepatitis", "HP:0200122": "Atypical or prolonged hepatitis", "HP:0200123": "Chronic hepatitis", "HP:0200124": "Chronic hepatitis due to cryptosporidium infection", "HP:0200125": "Mitochondrial respiratory chain defects", "HP:0200127": "Atrial cardiomyopathy", "HP:0200128": "Biventricular hypertrophy", "HP:0200133": "Lumbosacral meningocele", "HP:0200134": "Epileptic encephalopathy", "HP:0200136": "Oral-pharyngeal dysphagia", "HP:0200138": "Bilateral choanal atresia/stenosis", "HP:0200141": "Small, conical teeth", "HP:0200143": "Megaloblastic erythroid hyperplasia", "HP:0200146": "Mucoid extracellular matrix accumulation", "HP:0200147": "Neuronal loss in basal ganglia", "HP:0200148": "Abnormal liver function tests during pregnancy", "HP:0200149": "CSF lymphocytic pleiocytosis", "HP:0200150": "Increased serum bile acid concentration during pregnancy", "HP:0200151": "Cutaneous mastocytosis", "HP:0200153": "Agenesis of lateral incisor", "HP:0200154": "Agenesis of mandibular lateral incisor", "HP:0200158": "Agenesis of permanent mandibular lateral incisor", "HP:0200159": "Agenesis of primary mandibular lateral incisor", "HP:0200160": "Agenesis of maxillary incisor", "HP:0200161": "Agenesis of mandibular incisor", "HP:0400000": "Tall chin", "HP:0400001": "Chin with vertical crease", "HP:0400002": "Extra concha fold", "HP:0400003": "Focal absence of the external ear", "HP:0400004": "Long ear", "HP:0400005": "Short ear", "HP:0400007": "Polymenorrhea", "HP:0400008": "Menometrorrhagia", "HP:0410000": "Abnormal vomer morphology", "HP:0410005": "Cleft hard palate", "HP:0410006": "Abnormality of ophthalmic artery", "HP:0410008": "Abnormality of the peripheral nervous system", "HP:0410009": "Abnormality of the somatic nervous system", "HP:0410010": "Abnormality of somatic nerve plexus", "HP:0410011": "Abnormality of masticatory muscle", "HP:0410012": "Abnormal mouth floor morphology", "HP:0410013": "Abnormality of the submandibular region", "HP:0410014": "Abnormal ganglion morphology", "HP:0410015": "Abnormal peripheral nervous system ganglion morphology", "HP:0410016": "Abnormal cranial ganglion morphology", "HP:0410017": "Otitis externa", "HP:0410018": "Recurrent ear infections", "HP:0410019": "Epigastric pain", "HP:0410020": "Fish odor", "HP:0410021": "Musty odor", "HP:0410022": "Vaginal fish odor", "HP:0410023": "Abnormal distribution of cell junction proteins in buccal mucosal cells", "HP:0410026": "Abnormal periodontium morphology", "HP:0410027": "Alveolar bone loss around teeth", "HP:0410028": "Recurrent oral herpes", "HP:0410030": "Cleft lip", "HP:0410031": "Submucous cleft of soft and hard palate", "HP:0410033": "Unilateral alveolar cleft of maxilla", "HP:0410034": "Bilateral alveolar cleft of maxilla", "HP:0410035": "Abnormal T cell activation", "HP:0410042": "Abnormal liver morphology", "HP:0410043": "Abnormal neural tube morphology", "HP:0410049": "Abnormal radial ray morphology", "HP:0410050": "Decreased level of 1,5 anhydroglucitol in serum", "HP:0410051": "Increased level of 3-hydroxy-3-methylglutaric acid in urine", "HP:0410052": "Increased level of allantoin in serum", "HP:0410053": "Elevated circulating gamma-aminobutyric acid concentration", "HP:0410054": "Decreased circulating GABA concentration", "HP:0410055": "Decreased level of erythritol in urine", "HP:0410056": "Decreased CSF erythritol concentration", "HP:0410057": "Increased level of D-threitol in plasma", "HP:0410058": "Increased level of D-threitol in CSF", "HP:0410059": "Increased level of D-threitol in urine", "HP:0410060": "Decreased level of D-mannose in urine", "HP:0410061": "Increased level of galactitol in plasma", "HP:0410062": "Increased level of galactitol in urine", "HP:0410063": "Increased level of galactonate in red blood cells", "HP:0410064": "Increased level of galactitol in red blood cells", "HP:0410065": "Increased level of hippuric acid in blood", "HP:0410066": "Increased level of hippuric acid in urine", "HP:0410067": "Increased level of L-fucose in urine", "HP:0410069": "Increased level of propylene glycol in blood", "HP:0410070": "Increased level of ribitol in urine", "HP:0410071": "Increased level of ribitol in CSF", "HP:0410072": "Increased level of ribose in urine", "HP:0410073": "Increased level of ribose in CSF", "HP:0410074": "Increased level of xylitol in urine", "HP:0410075": "Increased level of xylitol in CSF", "HP:0410132": "Increased level of L-pyroglutamic acid in urine", "HP:0410133": "Chronic idiopathic urticaria", "HP:0410134": "Physical urticaria", "HP:0410135": "Cold urticaria", "HP:0410136": "Aquagenic urticaria", "HP:0410137": "Solar urticaria", "HP:0410138": "Vibratory urticaria", "HP:0410139": "Exercise induced anaphylaxis", "HP:0410144": "Abnormal circulating biotinidase concentration", "HP:0410145": "Decreased circulating biotinidase concentration", "HP:0410146": "Elevated circulating biotinidase concentration", "HP:0410147": "Eosinophilic infiltration in the stomach mucosa", "HP:0410148": "Idiopathic anaphylaxis", "HP:0410149": "Drug-induced anaphylaxis", "HP:0410151": "Eosinophilic infiltration of the esophagus", "HP:0410152": "Eosinophilic microabscess formation in the esophagus", "HP:0410153": "Increased level of methylsuccinic acid in urine", "HP:0410154": "Increased level of myristic acid in serum", "HP:0410156": "Increased level of N-acetylneuraminic acid in urine", "HP:0410157": "Increased level of N-acetylneuraminic acid in fibroblasts", "HP:0410166": "Defective interstrand cross-link repair", "HP:0410167": "Abnormal morphology of the chest musculature", "HP:0410168": "Abnormality of the back musculature", "HP:0410169": "Abnormal morphology of the shoulder musculature", "HP:0410170": "Hippocampal atrophy", "HP:0410171": "Increased cotinine level", "HP:0410172": "Blood xenobiotic", "HP:0410173": "Increased circulating troponin I concentration", "HP:0410174": "Increased circulating troponin T concentration", "HP:0410175": "Hyperketonemia", "HP:0410176": "Abnormal circulating glucose-6-phosphate dehydrogenase concentration", "HP:0410177": "Abnormal glucose-6-phosphate dehydrogenase level in blood", "HP:0410178": "Increased glucose-6-phosphate dehydrogenase level in blood", "HP:0410179": "Decreased glucose-6-phosphate dehydrogenase level in blood", "HP:0410180": "Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot", "HP:0410181": "Increased glucose-6-phosphate dehydrogenase level in dried blood spot", "HP:0410182": "Decreased glucose-6-phosphate dehydrogenase level in dried blood spot", "HP:0410183": "Abnormal glucose-6-phosphate dehydrogenase level in leukocytes", "HP:0410184": "Abnormal glucose-6-phosphate dehydrogenase level in red blood cells", "HP:0410185": "Abnormal glucose-6-phosphate dehydrogenase level in tissue", "HP:0410186": "Increased glucose-6-phosphate dehydrogenase level in tissue", "HP:0410187": "Decreased glucose-6-phosphate dehydrogenase level in tissue", "HP:0410188": "Decreased glucose-6-phosphate dehydrogenase level in red blood cells", "HP:0410189": "Increased glucose-6-phosphate dehydrogenase level in red blood cells", "HP:0410190": "Decreased glucose-6-phosphate dehydrogenase level in leukocytes", "HP:0410191": "Increased glucose-6-phosphate dehydrogenase level in leukocytes", "HP:0410192": "Abnormal uridine diphosphate glucose-4-epimerase level", "HP:0410193": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", "HP:0410194": "Increased uridine diphosphate glucose-4-epimerase level in plasma", "HP:0410195": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", "HP:0410196": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", "HP:0410197": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", "HP:0410198": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", "HP:0410199": "Increased CSF urate concentration", "HP:0410200": "Positive meconium barbiturate test", "HP:0410201": "Positive hair barbiturate test", "HP:0410202": "Positive stool barbiturate test", "HP:0410203": "Positive gastric fluid barbiturate test", "HP:0410204": "Increased intestinal transit time", "HP:0410205": "Abnormal circulating nicotinurate concentration", "HP:0410206": "Increased circulating nicotinurate level", "HP:0410207": "Positive methadone plasma/serum test", "HP:0410208": "Positive plasma/serum cotinine test", "HP:0410209": "Folate deficiency in CSF", "HP:0410210": "Abnormal cord blood measurement", "HP:0410211": "Abnormal blood gas level in cord blood", "HP:0410212": "Hyperoxemia in cord blood", "HP:0410213": "Hypoxemia in cord blood", "HP:0410214": "Hypercapnia in cord blood", "HP:0410215": "Hypocapnia in cord blood", "HP:0410216": "Abnormal blood 5-methyltetrahydrofolate level", "HP:0410217": "Reduced blood 5-methyltetrahydrofolate level", "HP:0410218": "Hypoplasia of maxilla relative to mandible", "HP:0410219": "Hypoplasia of mandible relative to maxilla", "HP:0410220": "Increased anti-dairy protein IgE antibody level", "HP:0410221": "Increased anti-animal protein IgE antibody level", "HP:0410222": "Increased anti-seafood IgE antibody level", "HP:0410223": "Increased anti-dust mite IgE antibody level", "HP:0410224": "Increased anti-bacteria IgE antibody level", "HP:0410225": "Increased anti-drug IgE antibody level", "HP:0410226": "Increased anti-feather IgE antibody level", "HP:0410227": "Increased anti-food allergen IgE antibody level", "HP:0410228": "Increased anti-plant based food allergen IgE antibody level", "HP:0410229": "Increased anti-gluten IgE antibody level", "HP:0410230": "Increased anti-nut food product IgE antibody level", "HP:0410231": "Increased anti-egg IgE antibody level", "HP:0410232": "Increased anti-fungi IgE antibody level", "HP:0410233": "Increased anti-meat allergen IgE antibody level", "HP:0410234": "Increased anti-parasite IgE antibody level", "HP:0410235": "Increased anti-insect IgE antibody level", "HP:0410236": "Increased anti-venom IgE antibody level", "HP:0410238": "Increased anti-plant product IgE antibody level", "HP:0410239": "Positive urine norcotinine test", "HP:0410240": "Abnormal circulating IgA level", "HP:0410241": "Abnormal circulating IgE level", "HP:0410242": "Abnormal circulating IgG level", "HP:0410243": "Abnormal circulating IgM level", "HP:0410244": "Abnormal circulating IgD level", "HP:0410245": "Decreased circulating IgD", "HP:0410246": "Increased circulating IgD level", "HP:0410247": "Increased anti-animal dander IgE antibody level", "HP:0410248": "Increased anti-house dust mite IgE antibody level", "HP:0410249": "Increased anti-alpha-gal IgE antibody level", "HP:0410251": "Abnormal L-selectin shedding", "HP:0410252": "Chronic neutropenia", "HP:0410253": "Myeloid maturation arrest", "HP:0410254": "Cyclic neutropenia in myeloid maturation arrest in bone marrow", "HP:0410255": "Transient neutropenia", "HP:0410256": "Infection associated neutropenia", "HP:0410257": "Neutrophilia in presence of infection", "HP:0410258": "Neutrophilia in absence of infection", "HP:0410259": "Hepatopulmonary fusion", "HP:0410260": "Asymmetrical gluteal crease", "HP:0410261": "Wide space between 4th and 5th toe", "HP:0410262": "Lower cranial nerve dysfunction", "HP:0410263": "Brain imaging abnormality", "HP:0410264": "Subglottic hemangioma", "HP:0410265": "Supraglottic hemangioma", "HP:0410266": "Visceral hemangioma", "HP:0410267": "Intestinal hemangioma", "HP:0410268": "Spleen hemangioma", "HP:0410269": "Labial hemangioma", "HP:0410270": "Esophageal hemangioma", "HP:0410271": "Laryngeal hemangioma", "HP:0410272": "Vulvar hemangioma", "HP:0410273": "Retropharyngeal hemangioma", "HP:0410274": "Paraspinal hemangioma", "HP:0410275": "Lumbosacral hemangioma", "HP:0410276": "Supraumbilical raphe", "HP:0410277": "Sternal pit", "HP:0410278": "Pituitary gland cyst", "HP:0410279": "Atrophic pituitary gland", "HP:0410280": "Pediatric onset", "HP:0410281": "Dyspepsia", "HP:0410282": "Abnormal circulating amylase concentration", "HP:0410283": "Positive blood acetaminophen test", "HP:0410284": "Positive norpropoxyphene blood test", "HP:0410285": "Positive meconium methadone test", "HP:0410286": "Positive blood molindone test", "HP:0410287": "Intrathoracic hemangioma", "HP:0410288": "Hyperamylasemia", "HP:0410289": "Hypoamylasemia", "HP:0410290": "Positive urine norpropoxyphene test", "HP:0410291": "Negativism", "HP:0410292": "Abnormal isohemagglutinin level", "HP:0410293": "Absent isohemagglutinin level", "HP:0410294": "Decreased specific antibody response to protein vaccine", "HP:0410295": "Complete or near-complete absence of specific antibody response to tetanus vaccine", "HP:0410296": "Complete or near-complete absence of specific antibody response to hepatitis B vaccine", "HP:0410297": "Partial absence of specific antibody response to tetanus vaccine", "HP:0410298": "Partial absence of specific antibody response to hepatitis B vaccine", "HP:0410299": "Decreased specific antibody response to polysaccharide vaccine", "HP:0410300": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine", "HP:0410301": "Partial absence of specific antibody response to unconjugated pneumococcus vaccine", "HP:0410302": "Decreased specific antibody response to protein-conjugated polysaccharide vaccine", "HP:0410303": "Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "HP:0410304": "Complete or near-complete absence of specific antibody response to meningococcus vaccine", "HP:0410305": "Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "HP:0410306": "Partial absence of specific antibody response to meningococcus vaccine", "HP:0410307": "Positive stool methadone test", "HP:0410308": "Decreased specific antibody response to infection", "HP:0410309": "Alpha-aminoadipic aciduria", "HP:0410310": "Abnormality of neutrophil morphology in CSF", "HP:0410311": "Hyposegmentation of neutrophil nuclei in CSF", "HP:0410312": "Hypersegmentation of neutrophil nuclei in CSF", "HP:0410313": "Abnormal urinary 1-methylhistidine concentration", "HP:0410314": "Decreased urinary 1-methylhistidine", "HP:0410315": "Increased urinary 1-methylhistidine", "HP:0410316": "Abnormal urinary 3-methylhistidine level", "HP:0410317": "Increased urinary 3-methylhistidine", "HP:0410318": "Decreased urinary 3-methylhistidine", "HP:0410319": "Alpha-gal allergy", "HP:0410320": "Animal protein allergy", "HP:0410321": "Animal dander allergy", "HP:0410322": "Bacteria allergy", "HP:0410323": "Drug allergy", "HP:0410324": "Dust mite allergy", "HP:0410326": "Feather allergy", "HP:0410327": "Dairy allergy", "HP:0410328": "Egg allergy", "HP:0410329": "Gluten allergy", "HP:0410330": "Meat allergen allergy", "HP:0410331": "Nut food product allergy", "HP:0410332": "Plant based food allergy", "HP:0410333": "Seafood allergy", "HP:0410334": "Fungi allergy", "HP:0410335": "Insect allergy", "HP:0410336": "Venom allergy", "HP:0410337": "Parasite allergy", "HP:0410338": "Plant product allergy", "HP:0410339": "Insect bite allergy", "HP:0410340": "Focal epithelial hyperplasia of oral mucosa", "HP:0410341": "Abnormal circulating heparan sulfate level", "HP:0410342": "Increased circulating heparan sulfate level", "HP:0410343": "Decreased circulating heparan sulfate level", "HP:0410344": "Shortened O-fucosylated glycan on properdin", "HP:0410345": "Increased urinary polyhexose", "HP:0410346": "Increased urinary galactosylated oligosaccharide", "HP:0410347": "Increased urinary high-mannose-type oligosaccharide", "HP:0410348": "Increased urinary multiantennary sialylated oligosaccharide", "HP:0410349": "Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level", "HP:0410350": "Increased urinary fucosylated oligosaccharide", "HP:0410351": "Abnormal complex N-glycan level", "HP:0410352": "Increased complex N-glycan level", "HP:0410353": "Decreased complex N-glycan level", "HP:0410354": "Increased sialylated N-glycan level", "HP:0410355": "Decreased sialylated N-glycan level", "HP:0410356": "Abnormal high-mannose N-glycan level", "HP:0410357": "Increased high-mannose N-glycan level", "HP:0410358": "Decreased high-mannose N-glycan level", "HP:0410359": "Abnormal core 1 O-glycan level", "HP:0410360": "Increased core 1 O-glycan level", "HP:0410361": "Decreased core 1 O-glycan level", "HP:0410362": "Decreased O-mannosyl glycans on alpha-dystroglycan", "HP:0410363": "Increased monosialylated core 1 O-glycan level", "HP:0410364": "Decreased monosialylated core 1 O-glycan level", "HP:0410365": "Increased disialylated core 1 O-glycan level", "HP:0410366": "Increased globoside Gb4 level", "HP:0410367": "Increased hepatitis A virus antibody level", "HP:0410368": "Increased globoside Gb3 level", "HP:0410369": "Increased hepatitis B virus antibody level", "HP:0410370": "Absence of ganglioside GM3", "HP:0410371": "Increased hepatitis C virus antibody level", "HP:0410372": "Increased Tn-antigen level", "HP:0410373": "Abnormal proportion of naive CD4 T cells", "HP:0410374": "Abnormal proportion of naive CD8 T cells", "HP:0410375": "Increased proportion of naive CD4 T cells", "HP:0410376": "Increased proportion of naive CD8 T cells", "HP:0410377": "Decreased proportion of naive CD8 T cells", "HP:0410378": "Decreased proportion of naive CD4 T cells", "HP:0410379": "Abnormal proportion of CD4-positive, alpha-beta memory T cells", "HP:0410380": "Abnormal proportion of CD8-positive, alpha-beta memory T cells", "HP:0410381": "Abnormal proportion of central memory CD4-positive, alpha-beta T cells", "HP:0410383": "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells", "HP:0410384": "Abnormal proportion of central memory CD8-positive, alpha-beta T cells", "HP:0410385": "Decreased proportion of CD8-positive, alpha-beta memory T cells", "HP:0410386": "Decreased proportion of CD4-positive, alpha-beta memory T cells", "HP:0410388": "Decreased proportion of central memory CD4-positive, alpha-beta T cells", "HP:0410389": "Decreased proportion of central memory CD8-positive, alpha-beta T cells", "HP:0410390": "Decreased proportion of effector memory CD8-positive, alpha-beta T cells", "HP:0410391": "Increased proportion of CD4-positive, alpha-beta memory T cells", "HP:0410392": "Increased proportion of CD8-positive, alpha-beta memory T cells", "HP:0410393": "Increased proportion of central memory CD4-positive, alpha-beta T cells", "HP:0410394": "Increased proportion of effector memory CD4-positive, alpha-beta T cells", "HP:0410395": "Increased proportion of effector memory CD8-positive, alpha-beta T cells", "HP:0410396": "Increased proportion of central memory CD8-positive, alpha-beta T cells", "HP:0410397": "Bronchiolectasis", "HP:0410399": "Positive blood lead test", "HP:0410400": "Absent sebaceous glands", "HP:0410401": "Worse in evening", "HP:0430000": "Abnormal frontal bone morphology", "HP:0430002": "Abnormal lacrimal bone morphology", "HP:0430003": "Abnormal palatine bone morphology", "HP:0430004": "Frontomalar faciosynostosis", "HP:0430005": "Abnormal ethmoid bone morphology", "HP:0430006": "Ectopic cilia of eyelid", "HP:0430007": "Symblepharon", "HP:0430008": "Accessory eyelid", "HP:0430009": "Hypoplasia of eyelid", "HP:0430010": "Microblepharia", "HP:0430011": "Defect of palpebral conjunctiva", "HP:0430012": "Incomplete ossification of palatine bone", "HP:0430013": "Absent palatine bone ossification", "HP:0430014": "Abnormality of musculature of soft palate", "HP:0430015": "Abnormal morphology of musculature of pharynx", "HP:0430016": "Abnormality of tensor veli palatini muscle", "HP:0430017": "Abnormality of uvular muscle", "HP:0430018": "Abnormality of nasal musculature", "HP:0430019": "Abnormality of muscle of facial expression", "HP:0430020": "Abnormality of levator labii superioris alaeque nasi muscle", "HP:0430021": "Abnormal common carotid artery morphology", "HP:0430022": "Abnormality of the sphenoid sinus", "HP:0430023": "Abnormality of the maxillary sinus", "HP:0430024": "Abnormality of external jugular vein", "HP:0430025": "Bilateral facial palsy", "HP:0430028": "Hyperplasia of the maxilla", "HP:0430029": "Hyperplasia of the premaxilla", "HP:0500001": "Body odor", "HP:0500005": "Anal pain", "HP:0500006": "Urethritis", "HP:0500007": "Iris flocculi", "HP:0500008": "Cornea verticillata", "HP:0500009": "Dysplastic gangliocytoma of the cerebellum", "HP:0500011": "Moon facies", "HP:0500012": "Abnormal gonadotropin-releasing hormone concentration", "HP:0500013": "Lack of gonadotropin-releasing hormone pulsatility", "HP:0500015": "Abnormal cardiac test", "HP:0500016": "Abnormal cardiac MRI", "HP:0500017": "Abnormal cardiac catheterization", "HP:0500018": "Abnormal cardiac exercise stress test", "HP:0500019": "Abnormal resting energy expenditure from metabolic cart test", "HP:0500020": "Abnormal cardiac biomarker test", "HP:0500021": "Reduced brain gamma-aminobutyric acid level by MRS", "HP:0500022": "Abnormal circulating dehydroepiandrosterone concentration", "HP:0500023": "Shoulder muscle aplasia", "HP:0500024": "Aplasia of the musculature of the pelvis", "HP:0500026": "Hypoplasia of the musculature of the pelvis", "HP:0500027": "Aplastic colon", "HP:0500028": "Cotton wool plaques", "HP:0500030": "Abnormal hepatic glycogen storage", "HP:0500031": "Sclerosis of the carpal bones", "HP:0500032": "Abnormal neuron branching", "HP:0500033": "Abnormal natural killer subset distribution", "HP:0500034": "Nasolacrimal sac obstruction", "HP:0500035": "Nasolacrimal sac granuloma", "HP:0500036": "Nasolacrimal sac papilloma", "HP:0500037": "Nasolacrimal sac epithelial papillary carcinoma", "HP:0500039": "Conjunctival cicatrization", "HP:0500040": "Dermolipoma of the conjunctiva", "HP:0500041": "Myopic astigmatism", "HP:0500042": "Latent hypermetropia", "HP:0500043": "Eyelid retraction", "HP:0500044": "Upper eyelid retraction", "HP:0500045": "Collier's sign", "HP:0500046": "Seborrhoeic blepharitis", "HP:0500047": "Nasolacrimal sac lymphoma", "HP:0500048": "Delayed canalization of nasolacrimal duct", "HP:0500049": "Retinopathy of prematurity", "HP:0500050": "Retinopathy of prematurity stage 1", "HP:0500051": "Retinopathy of prematurity stage 2", "HP:0500052": "Retinopathy of prematurity stage 3", "HP:0500053": "Retinopathy of prematurity stage 4", "HP:0500054": "Retinopathy of prematurity stage 4a", "HP:0500055": "Retinopathy of prematurity stage 4b", "HP:0500056": "Retinopathy of prematurity stage 5", "HP:0500057": "Retinopathy of prematurity stage 5a", "HP:0500058": "Retinopathy of prematurity stage 5b", "HP:0500059": "Retinopathy of prematurity zone I", "HP:0500060": "Retinopathy of prematurity zone II", "HP:0500061": "Retinopathy of prematurity zone III", "HP:0500062": "Retinopathy of prematurity plus", "HP:0500063": "Retinopathy of prematurity pre-plus", "HP:0500064": "Retinopathy of prematurity threshold", "HP:0500065": "Retinopathy of prematurity prethreshold", "HP:0500066": "Latent myopia", "HP:0500069": "Paralytic ectropion", "HP:0500070": "Conjunctival dermolipoma", "HP:0500072": "Absolute eccentric fixation", "HP:0500073": "Abnormal ocular alignment", "HP:0500074": "Dissociated vertical deviation", "HP:0500075": "Dissociated horizontal deviation", "HP:0500076": "Alternating hypertropia", "HP:0500077": "Alternating hyperphoria", "HP:0500078": "Alternating hypotropia", "HP:0500079": "Alternating hypophoria", "HP:0500081": "Pseudophakia", "HP:0500086": "Optic nerve gray crescent", "HP:0500087": "Peripapillary atrophy", "HP:0500088": "Foveal depigmentation", "HP:0500089": "Optic nerve sheath meningioma", "HP:0500090": "Periocular capillary hemangioma", "HP:0500091": "Lymphangioma of the orbit", "HP:0500092": "Orbital rhabdomyosarcoma", "HP:0500093": "Food allergy", "HP:0500094": "Latex allergy", "HP:0500095": "Food-induced anaphylaxis", "HP:0500096": "Venom-induced anaphylaxis", "HP:0500097": "Stool xenobiotic", "HP:0500098": "Meconium xenobiotic", "HP:0500099": "Hair xenobiotic", "HP:0500100": "Plasma/serum xenobiotic", "HP:0500101": "Gastric fluid xenobiotic", "HP:0500104": "Decreased diastolic blood pressure", "HP:0500105": "Decreased systolic blood pressure", "HP:0500106": "Isolated systolic hypertension", "HP:0500107": "Isolated diastolic hypotension", "HP:0500108": "Positive urine cocaine test", "HP:0500109": "Positive urine barbiturate test", "HP:0500110": "Positive urine cannabinoid test", "HP:0500111": "Positive urine benzodiazepines test", "HP:0500112": "Positive urine amphetamine test", "HP:0500113": "Positive urine opioid test", "HP:0500114": "Abnormal stool urobilinogen concentration", "HP:0500115": "Increased stool urobilinogen concentration", "HP:0500116": "Positive blood barbiturate test", "HP:0500117": "Abnormal CSF urate concentration", "HP:0500132": "Hypovalinemia", "HP:0500133": "Hypotyrosinemia", "HP:0500134": "Hypertryptophanemia", "HP:0500135": "Hypotryptophanemia", "HP:0500136": "Hypothreoninemia", "HP:0500138": "Hyperserinemia", "HP:0500139": "Hypoprolinemia", "HP:0500140": "Decreased circulating hydroxyproline concentration", "HP:0500141": "Hypophenylalaninemia", "HP:0500142": "Hypolysinemia", "HP:0500143": "Hypoleucinemia", "HP:0500144": "Hypoisoleucinemia", "HP:0500145": "Hypohistidinemia", "HP:0500147": "Hypoglutaminemia", "HP:0500148": "Abnormal circulating glutamate concentration", "HP:0500149": "Hyperglutamatemia", "HP:0500150": "Hypoglutamatemia", "HP:0500151": "Hypercystinemia", "HP:0500152": "Hypocystinemia", "HP:0500153": "Hyperargininemia", "HP:0500154": "Hypoalaninemia", "HP:0500155": "Abnormal circulating asparagine concentration", "HP:0500156": "Hyperasparaginemia", "HP:0500157": "Hypoasparaginemia", "HP:0500158": "Abnormal circulating aspartic acid concentration", "HP:0500159": "Increased circulating aspartic acid concentration", "HP:0500160": "Abnormal circulating carnosine concentration", "HP:0500161": "Increased level of carnosine in blood", "HP:0500162": "Decreased level of carnosine in blood", "HP:0500163": "Hypoornithinemia", "HP:0500164": "Abnormal blood carbon dioxide level", "HP:0500165": "Abnormal blood oxygen level", "HP:0500166": "Abnormal circulating gastrin concentration", "HP:0500167": "Hypergastrinemia", "HP:0500170": "Abnormal concentration of acylcarnitine in the urine", "HP:0500173": "Reflex asystolic syncope", "HP:0500180": "Abnormal circulating amino sulfonic acid concentration", "HP:0500181": "Hypertaurinemia", "HP:0500182": "Hypotaurinemia", "HP:0500183": "Abnormal CSF carboxylic acid concentration", "HP:0500184": "Abnormal CSF amino acid concentration", "HP:0500185": "Abnormal CSF branched chain amino acid concentration", "HP:0500186": "Abnormal CSF valine concentration", "HP:0500187": "Increased CSF valine concentration", "HP:0500188": "Decreased CSF valine concentration", "HP:0500189": "Abnormal CSF leucine concentration", "HP:0500190": "Decreased CSF leucine concentration", "HP:0500191": "Increased CSF leucine concentration", "HP:0500192": "Abnormal CSF isoleucine concentration", "HP:0500193": "Increased CSF isoleucine concentration", "HP:0500194": "Decreased CSF isoleucine concentration", "HP:0500195": "Abnormal CSF glutamine family amino acid concentration", "HP:0500196": "Abnormal CSF glutamine concentration", "HP:0500197": "Increased CSF glutamine concentration", "HP:0500198": "Decreased CSF glutamine concentration", "HP:0500199": "Abnormal CSF glutamate concentration", "HP:0500200": "Increased CSF glutamate concentration", "HP:0500201": "Decreased CSF glutamate concentration", "HP:0500202": "Abnormal CSF arginine concentration", "HP:0500203": "Increased CSF arginine concentration", "HP:0500204": "Decreased CSF arginine concentration", "HP:0500205": "Abnormal CSF aspartate family amino acid concentration", "HP:0500206": "Abnormal CSF lysine concentration", "HP:0500207": "Decreased CSF lysine concentration", "HP:0500208": "Increased CSF lysine concentration", "HP:0500209": "Abnormal CSF methionine concentration", "HP:0500210": "Increased CSF methionine concentration", "HP:0500211": "Abnormal CSF threonine concentration", "HP:0500212": "Increased CSF threonine concentration", "HP:0500213": "Decreased CSF threonine concentration", "HP:0500214": "Abnormal CSF aromatic amino acid concentration", "HP:0500215": "Abnormal CSF phenylalanine concentration", "HP:0500216": "Abnormal CSF aspartate concentration", "HP:0500217": "Increased CSF aspartate concentration", "HP:0500218": "Abnormal CSF tryptophan concentration", "HP:0500219": "Abnormal CSF tyrosine concentration", "HP:0500220": "Increased CSF tyrosine concentration", "HP:0500221": "Decreased CSF tyrosine concentration", "HP:0500222": "Increased CSF tryptophan concentration", "HP:0500223": "Increased CSF phenylalanine concentration", "HP:0500224": "Decreased CSF phenylalanine concentration", "HP:0500225": "Abnormal CSF serine family amino acid concentration", "HP:0500226": "Abnormal CSF serine concentration", "HP:0500227": "Increased CSF serine concentration", "HP:0500228": "Decreased CSF serine concentration", "HP:0500229": "Abnormal CSF glycine concentration", "HP:0500230": "Increased CSF glycine concentration", "HP:0500231": "Abnormal CSF pyruvate family amino acid concentration", "HP:0500232": "Abnormal CSF alanine concentration", "HP:0500233": "Increased CSF alanine concentration", "HP:0500234": "Decreased CSF alanine concentration", "HP:0500235": "Abnormal CSF histidine concentration", "HP:0500236": "Increased CSF histidine concentration", "HP:0500237": "Decreased CSF histidine concentration", "HP:0500238": "Abnormal CSF albumin concentration", "HP:0500239": "Increased CSF albumin concentration", "HP:0500240": "Abnormal CSF carnosine concentration", "HP:0500241": "Abnormal CSF homocarnosine concentration", "HP:0500242": "Increased CSF homocarnosine concentration", "HP:0500243": "Abnormal CSF ornithine concentration", "HP:0500244": "Increased CSF ornithine concentration", "HP:0500245": "Abnormal CSF citrulline concentration", "HP:0500246": "Increased CSF citrulline concentration", "HP:0500247": "Abnormal CSF alpha-aminobutyrate concentration", "HP:0500248": "Increased CSF alpha-aminobutyrate concentration", "HP:0500249": "Abnormal circulating ethanolamine concentration", "HP:0500250": "Increased circulating ethanolamine concentration", "HP:0500251": "Abnormal urine sebacic acid concentration", "HP:0500252": "Increased urine sebacic acid concentration", "HP:0500253": "Increased level of gamma-aminobutyric acid in urine", "HP:0500254": "Abnormal urine hexanoylglycine concentration", "HP:0500255": "Increased level of hexanoylglycine in urine", "HP:0500256": "Abnormal urine isobutyrylglycine concentration", "HP:0500257": "Increased urine isobutyrylglycine concentration", "HP:0500258": "Abnormal carbon dioxide level in cord blood", "HP:0500259": "Abnormal oxygen level in cord blood", "HP:0500260": "Triggered by head trauma", "HP:0500261": "Triggered by anesthetics", "HP:0500262": "Atrichia", "HP:0500263": "Abnormal helper T cell proportion", "HP:0500264": "Increased helper T cell proportion", "HP:0500265": "Increased proportion of CD8-positive, alpha-beta TEMRA T cells", "HP:0500266": "Decreased proportion of CD8-positive, alpha-beta TEMRA T cells", "HP:0500267": "Abnormal proportion of CD4-positive helper T cells", "HP:0500269": "Abnormal proportion of gamma-delta T cells", "HP:0500270": "Increased proportion of gamma-delta T cells", "HP:0500271": "Decreased proportion of gamma-delta T cells", "HP:0500272": "Abnormal proportion of immature gamma-delta T cells", "HP:0500273": "Increased proportion of immature gamma-delta T cells", "HP:0500274": "Decreased proportion of immature gamma-delta T cells", "HP:0550003": "Proximal scleroderma", "HP:0550004": "Verruca plana", "HP:0550005": "Bilateral basilar pulmonary fibrosis", "HP:3000002": "Abnormal inner ear epithelium morphology", "HP:3000003": "Abnormal mandibular ramus morphology", "HP:3000004": "Abnormality of frontalis muscle belly", "HP:3000005": "Abnormality of masseter muscle", "HP:3000006": "Abnormality of medial pterygoid muscle", "HP:3000007": "Abnormality of mentalis muscle", "HP:3000008": "Abnormality of mylohyoid muscle", "HP:3000009": "Abnormality of nasalis muscle", "HP:3000010": "Abnormality of orbicularis oris muscle", "HP:3000011": "Abnormality of palatoglossus muscle", "HP:3000012": "Abnormality of palatopharyngeus muscle", "HP:3000013": "Abnormal platysma muscle morphology", "HP:3000014": "Abnormality of procerus muscle", "HP:3000015": "Abnormality of risorius muscle", "HP:3000016": "Abnormality of styloglossus muscle", "HP:3000017": "Abnormality of temporalis muscle", "HP:3000018": "Abnormality of zygomaticus major muscle", "HP:3000019": "Abnormal buccal mucosa morphology", "HP:3000020": "Abnormality of zygomaticus minor muscle", "HP:3000021": "Abnormal buccal fat pad morphology", "HP:3000022": "Abnormality of cartilage of external ear", "HP:3000023": "Abnormality of angular artery", "HP:3000024": "Abnormal facial artery morphology", "HP:3000025": "Abnormality of ciliary ganglion", "HP:3000027": "Abnormality of buccinator muscle", "HP:3000028": "Abnormality of depressor anguli oris muscle", "HP:3000029": "Abnormality of depressor labii inferioris", "HP:3000030": "Abnormal morphology of bony orbit of skull", "HP:3000031": "Abnormality of anterior ethmoidal artery", "HP:3000032": "Abnormality of central retinal artery", "HP:3000033": "Abnormal nasopharyngeal adenoid morphology", "HP:3000034": "Abnormality nasal septum cartilage morphology", "HP:3000035": "Abnormality of cervical plexus", "HP:3000036": "Abnormal head blood vessel morphology", "HP:3000037": "Abnormal neck blood vessel morphology", "HP:3000038": "Abnormal cricoid cartilage morphology", "HP:3000039": "Abnormality of dorsal nasal artery", "HP:3000040": "Abnormality of ethmoid sinus", "HP:3000041": "Abnormality of external carotid artery", "HP:3000042": "Abnormal jugular vein morphology", "HP:3000043": "Abnormal facial vein morphology", "HP:3000044": "Abnormality of frontal process of maxilla", "HP:3000045": "Abnormality of genioglossus muscle", "HP:3000046": "Abnormal geniohyoid muscle morphology", "HP:3000047": "Abnormal glossopharyngeal nerve morphology", "HP:3000048": "Abnormal great auricular nerve morphology", "HP:3000049": "Abnormal greater palatine artery morphology", "HP:3000050": "Abnormal odontoid tissue morphology", "HP:3000051": "Abnormal hyoglossus muscle morphology", "HP:3000052": "Abnormal hyoid bone morphology", "HP:3000053": "Abnormal hypopharynx morphology", "HP:3000054": "Abnormal inferior alveolar artery morphology", "HP:3000055": "Abnormality of inferior alveolar nerve", "HP:3000056": "Abnormality of artery of lower lip", "HP:3000057": "Abnormality of inferior oblique extraocular muscle", "HP:3000058": "Abnormality of inferior rectus extraocular muscle", "HP:3000059": "Abnormal inferior thyroid vein morphology", "HP:3000060": "Abnormal infraorbital artery morphology", "HP:3000061": "Abnormality of infra-orbital nerve", "HP:3000062": "Abnormal internal carotid artery morphology", "HP:3000063": "Abnormality of internal jugular vein", "HP:3000064": "Abnormality of intrinsic muscle of tongue", "HP:3000065": "Abnormal lacrimal artery morphology", "HP:3000066": "Abnormal lacrimal sac morphology", "HP:3000067": "Abnormal lateral cricoarytenoid muscle morphology", "HP:3000068": "Abnormality of lateral pterygoid muscle", "HP:3000069": "Abnormality of lateral rectus extra-ocular muscle", "HP:3000070": "Abnormality of levator anguli oris", "HP:3000071": "Abnormality of levator labii superioris", "HP:3000072": "Abnormal levator palpebrae superioris morphology", "HP:3000073": "Abnormality of levator veli palatini muscle", "HP:3000074": "Abnormal lingual artery morphology", "HP:3000075": "Abnormal lingual nerve morphology", "HP:3000076": "Abnormality of lingual tonsil", "HP:3000077": "Abnormal mandible condylar process morphology", "HP:3000078": "Abnormal mandible coronoid process morphology", "HP:3000079": "Abnormal mandibular symphysis morphology", "HP:4000001": "Abnormal cardiac magnetic resonance imaging finding", "HP:4000003": "Elevated myocardial native T2", "HP:4000004": "Myocardial late gadolinium enhancement", "HP:4000005": "Pericardial late gadolinium enhancement", "HP:4000006": "Elevated myocardial native T1", "HP:4000007": "Bronchoconstriction", "HP:4000008": "Formation of multiple pronuclei during fertilization", "HP:4000009": "Kinesiophobia", "HP:4000010": "Impaired renal tubular reabsorption of bicarbonate", "HP:4000011": "History of congenital HPV infection", "HP:4000012": "Necrotizing ileitis", "HP:4000013": "Anti-desmoglein-1 antibody positivity", "HP:4000014": "Anti-desmoglein-3 antibody positivity", "HP:4000015": "Anti-envoplakin antibody positivity", "HP:4000016": "Anti-periplakin antibody positivity", "HP:4000017": "Anti-desmoplakin I antibody positivity", "HP:4000018": "Anti-desmoplakin II antibody positivity", "HP:4000019": "Anti-BP230 antibody positivity", "HP:4000020": "Anti-BP180 antibody positivity", "HP:4000021": "Anti-laminin 332 antibody positivity", "HP:4000022": "Anti-laminin 6 antibody positivity", "HP:4000023": "Anti-laminin gamma1 antibody positivity", "HP:4000024": "Anti-laminin antibody positivity", "HP:4000025": "Anti-integrin antibody positivity", "HP:4000026": "Anti-transglutaminase 6 antibody", "HP:4000027": "anti-LAD-1 antibody positivity", "HP:4000028": "Anti-LABD97 antibody positivity", "HP:4000029": "Antigliadin antibody positivity", "HP:4000030": "Anti-reticulin antibody positivity", "HP:4000031": "Anti-type VII collagen antibody", "HP:4000032": "False perception of self-motion", "HP:4000033": "Non-spinning vertigo", "HP:4000034": "Infection-associated lymphopenia", "HP:4000035": "Primary obstructive megaureter", "HP:4000036": "Encysted hydrocele of the cord", "HP:4000037": "Congenital hydrocele", "HP:4000038": "Infantile hydrocele", "HP:4000039": "Reduced proportion of mucosal-associated invariant T cells", "HP:4000040": "Puerpural onset", "HP:4000041": "AA amyloidosis", "HP:4000042": "Fracture type", "HP:4000043": "Greenstick fracture", "HP:4000044": "Transverse fracture", "HP:4000045": "Spiral fracture", "HP:4000046": "Oblique fracture", "HP:4000047": "Compression fracture", "HP:4000048": "Comminuted fracture", "HP:4000049": "Segmental fracture", "HP:4000050": "Open fracture", "HP:4000051": "Closed fracture", "HP:4000052": "Avulsion fracture", "HP:4000053": "Displaced fracture", "HP:4000054": "Exanthem", "HP:4000055": "Intestinal inflammation", "HP:4000056": "Abnormal apoptosis", "HP:4000057": "Decreased FasL-mediated apoptosis", "HP:4000058": "Glomerular proteinuria", "HP:4000059": "Abnormal lung development", "HP:4000060": "Abnormal pulmonary alveolar system development", "HP:4000061": "Pancreatic alpha-cell hyperplasia", "HP:4000062": "3-4 metacarpal synostosis", "HP:4000066": "Abnormal iliac artery morphology", "HP:4000067": "Iliac artery aneurysm", "HP:4000068": "Abnormal interest", "HP:4000069": "Persistent preoccupation with parts of objects or unusual objects", "HP:4000070": "Fixated interests", "HP:4000072": "Abnormal language feature", "HP:4000073": "Pronoun reversal", "HP:4000074": "Idiosyncratic language", "HP:4000075": "Reduced frequency of facial expressions", "HP:4000076": "Use of another person's body to communicate", "HP:4000077": "Fixated interest with abnormal focus", "HP:4000078": "Fixated interest with abnormal intensity", "HP:4000079": "Sensory seeking", "HP:4000080": "Reduced social initiation", "HP:4000081": "Reduced production of gestures", "HP:4000082": "Reduced collaborative play", "HP:4000083": "Reduced interest in peers", "HP:4000084": "Reduced sharing of interests", "HP:4000085": "Reduced object sharing", "HP:4000087": "Abnormal communicative facial expressions", "HP:4000088": "Facial expressions that do not match the context", "HP:4000089": "Abnormal quality of facial expression", "HP:4000090": "Abnormal gesture use", "HP:4000092": "Poor conversational reciprocity", "HP:4000093": "Ectopic tooth eruption", "HP:4000094": "Corpus cavernosum hypoplasia", "HP:4000095": "Elevated circulating thymine concentration", "HP:4000100": "Positive lactose hydrogen breath test", "HP:4000101": "Triggered by exposure to medication", "HP:4000102": "Triggered by allopurinol", "HP:4000103": "Ameliorated by oral zinc supplementation", "HP:4000104": "Curved dental root", "HP:4000105": "Abnormal four chamber view of the fetal heart", "HP:4000106": "Spleen hamartoma", "HP:4000107": "Positive lupus band test", "HP:4000108": "Bone marrow erythroid vacuolization", "HP:4000109": "Triggered by electromagnetic field", "HP:4000110": "Exposure history", "HP:4000111": "Asbestos exposure", "HP:4000112": "Medication history", "HP:4000113": "Aminoglycoside exposure", "HP:4000114": "Statin exposure", "HP:4000115": "Potassium-sparing diuretic exposure", "HP:4000116": "Carbamazepine exposure", "HP:4000117": "Valproate exposure", "HP:4000118": "Hydralazine exposure", "HP:4000119": "Calcium channel blocker exposure", "HP:4000120": "Triggered by nickel", "HP:4000121": "Triggered by poison ivy, poson oak, or sumac", "HP:4000122": "History of exclusive breast feeding", "HP:4000123": "Nutrition history", "HP:4000124": "High dietary oxalate intake", "HP:4000125": "Recent honey ingestion", "HP:4000126": "Raw egg-white ingestion", "HP:4000127": "Aggravated by sodium channel blocking agents", "HP:4000128": "Nitric oxide addiction", "HP:4000129": "Recent blood transfusion", "HP:4000130": "Ameliorated by colchicine", "HP:4000131": "Ameliorated by vitamin D", "HP:4000132": "Aggravated by phenytoin", "HP:4000133": "Triggered by angiotensin-converting enzyme inhibitor", "HP:4000134": "Prostaglandin E1 exposure", "HP:4000135": "5-fluorouracil exposure", "HP:4000136": "6-mercaptopurine exposure", "HP:4000137": "Isoniazid exposure", "HP:4000138": "Absent cavum septum pellucidum", "HP:4000139": "Fetal abdominal cyst", "HP:4000140": "Fetal bowel dilatation", "HP:4000141": "Left ventricular dilatation", "HP:4000142": "Fetal trigonocephaly", "HP:4000143": "Abnormal fetal heart outflow tract", "HP:4000144": "Recent past medical history", "HP:4000145": "History of recent viral illness", "HP:4000146": "History of recent dental procedure", "HP:4000147": "Abnormal portal artery morphology", "HP:4000148": "Portal artery hyperplasia", "HP:4000149": "Lymph node necrosis", "HP:4000150": "Multinucleated neuron", "HP:4000151": "History of recent cotralateral injury", "HP:4000152": "Alternating laterality", "HP:4000153": "Cervical squamous cell papilloma", "HP:4000154": "Liver leiomyoma", "HP:4000158": "Typified by high penetrance", "HP:4000159": "Typified by moderate penetrance", "HP:4000160": "Typified by low penetrance", "HP:4000162": "Decreased Succinyl-CoA 3-ketoacid CoA transferase activity", "HP:4000163": "Decreased phytanoyl-CoA hydroxylase activity", "HP:4000164": "Reduced bifunctional protein activity", "HP:4000165": "Decreased circulating plasmalogen concentration", "HP:4000166": "Post-vaccination varicella zoster virus infection", "HP:4000167": "Recent steroid exposure", "HP:4000168": "Shark teeth", "HP:4000169": "Pontine T2 hypointensity", "HP:4000170": "Anti-platelet antigen antibody positivity", "HP:4000171": "Anti-voltage-gated potassium channel antibody positivity", "HP:4000172": "Vegan diet", "HP:4000173": "History of previous pregnancy with hydrops fetalis", "HP:4000174": "Ameliorated by potassium supplements", "HP:4000175": "Ameliorated by niacin", "HP:4000176": "Aggravated by exposure to medication", "HP:4000177": "Bleeding ameliorated by vitamin K", "HP:4000178": "Anti-retroviral therapy exposure", "HP:4000179": "Potassium-wasting diuretic exposure", "HP:4000180": "Tricyclic antidepressant exposure", "HP:4000181": "Excessive dental attrition", "HP:4000182": "Positionally dependent pain", "HP:4000183": "Abnormal erythrocyte adenosine triphosphate concentration", "HP:4000184": "Reduced erythrocyte adenosine triphosphate concentration", "HP:4000186": "Elevated erythrocyte adenosine triphosphate concentration", "HP:5000000": "Anti-AK5 antibody positivity", "HP:5000001": "Anti-AMPAR antibody positivity", "HP:5000002": "Anti-Amphiphysin antibody", "HP:5000003": "Anti-ARHGAP26 antibody", "HP:5000004": "Anti-CARP VIII antibody", "HP:5000005": "Anti-CASPR2", "HP:5000006": "Anti-CV2/CRMP5 antibody positivity", "HP:5000007": "Anti-DPPX antibody", "HP:5000008": "Anti-FGFR3 antibody positivity", "HP:5000009": "Anti-GABA(A)R antibody", "HP:5000010": "Anti-GABA(B)R antibody", "HP:5000011": "Anti-GAD65 antibody", "HP:5000012": "Anti-Gephyrin antibody", "HP:5000013": "Anti-GFAP antibody", "HP:5000014": "Anti-GlyR antibody", "HP:5000015": "Anti-Homer-3 antibody", "HP:5000016": "Anti-Hu antibody positivity", "HP:5000017": "Anti-Iglon5 antibody", "HP:5000018": "Anti-ITPR1 antibody", "HP:5000019": "Anti-Kelch like protein 11 antibody positivity", "HP:5000020": "Anti-LGI1 antibody", "HP:5000021": "Anti-Ma antibody positivity", "HP:5000022": "Anti-Ma2 antibody positivity", "HP:5000023": "Anti-Ma1 antibody positivity", "HP:5000024": "Anti-mGluR1 antibody", "HP:5000025": "Anti-mGluR5 antibody", "HP:5000026": "Anti-neurexin-3alpha antibody positivity", "HP:5000027": "Anti-P/Q-type VGCC antibody positivity", "HP:5000028": "Anti-MAP1B antibody", "HP:5000029": "Anti-PKCgamma antibody", "HP:5000030": "Anti-Ri antibody", "HP:5000031": "Anti-Septin-5 antibody", "HP:5000032": "Anti-SEZ6L2 antibody", "HP:5000033": "Anti-SOX1 antibody", "HP:5000034": "Anti-Tr/DNER antibody", "HP:5000035": "Anti-TRIM46 antibody", "HP:5000036": "Anti-TRIM9/TRIM67 antibody", "HP:5000037": "Anti-Yo antibody positivity", "HP:5000038": "Anti-titin antibody positivity", "HP:5000039": "Anti-Zic4 antibody positivity", "HP:5000042": "Anti-Sj/ITPR1 antibody", "HP:5000043": "Anti-D2 R antibody", "HP:5000044": "Anti-GluK2 antibody", "HP:5000046": "Anti-Lrp4 antibody positivity", "HP:5000047": "Anti-ryanodine receptor antibody", "HP:5000048": "Anti-Kv1.4 antibody", "HP:5200001": "Selective mutism", "HP:5200002": "Limited repertoire of facial expression", "HP:5200003": "Excessive interest in others", "HP:5200004": "Reduced interest in others", "HP:5200005": "Abnormal pitch", "HP:5200006": "Loose association", "HP:5200007": "Neologism", "HP:5200008": "Overly formal/pedantic language", "HP:5200009": "Midline hand movements", "HP:5200010": "Abnormal Intonation", "HP:5200011": "Abnormal speech rate", "HP:5200012": "Abnormal speech rhythm", "HP:5200013": "Ambiguous facial expression", "HP:5200014": "Exaggerated facial expression", "HP:5200015": "Muted facial expression", "HP:5200016": "Abnormal peer relationships", "HP:5200017": "Abnormal movements of face and head", "HP:5200018": "Abnormal movements of the upper extremities", "HP:5200019": "Abnormal movements of the whole body", "HP:5200020": "Abnormal interest in others", "HP:5200021": "Reduced social insight", "HP:5200022": "Reduced awareness of convention", "HP:5200024": "Abnormal relationship", "HP:5200025": "Abnormal social awareness", "HP:5200026": "Abnormal social imitation", "HP:5200027": "Abnormal social initiation", "HP:5200028": "Abnormal social response", "HP:5200029": "Social disinhibition", "HP:5200030": "Diminished integration of verbal and non-verbal communicative behavior", "HP:5200031": "Deferred imitation of others", "HP:5200032": "Reduced immediate imitation of others", "HP:5200035": "Reduced collaborative imaginative play", "HP:5200036": "Lack of response to verbal cues", "HP:5200037": "Reduced sympathetic expression", "HP:5200038": "Bradylalia", "HP:5200039": "Speech too loud for context", "HP:5200040": "Speech too soft for context", "HP:5200043": "Abnormal speech volume", "HP:5200044": "Reduced attention regulation", "HP:5200045": "Reduced impulse control", "HP:5200046": "Sensory behavioral abnormality", "HP:5200047": "Idiosyncratic gesture", "HP:5200049": "Atypical sorting", "HP:5200050": "Excessive checking", "HP:5200051": "Excessive hand washing", "HP:5200052": "Resistance to trivial environmental changes", "HP:5200053": "Lack of nonverbal response to verbal cues", "HP:5200054": "Lack of verbal response to verbal cues", "HP:5200055": "Reduced co-speech gestures", "HP:5200056": "Limited head nodding or shaking", "HP:5200057": "Limited pointing", "HP:5200058": "Sensory hypersensitivity", "HP:5200059": "Sensory hyposensitivity unexplained by sensory deficit", "HP:5200060": "Auditory hypersensitivity", "HP:5200061": "Tactile hypersensitivity", "HP:5200062": "Auditory sensory seeking", "HP:5200063": "Gustatory sensory seeking", "HP:5200064": "Olfactory sensory seeking", "HP:5200065": "Tactile sensory seeking", "HP:5200066": "Vestibular sensory seeking", "HP:5200067": "Visual sensory seeking", "HP:5200068": "Socially innappropriate questionning", "HP:5200069": "Spinning", "HP:5200071": "Delayed Echolalia", "HP:5200072": "Immediate Echolalia", "HP:5200073": "Excessive cleaning", "HP:5201000": "Incomplete unilateral cleft lip", "HP:5201001": "Complete unilateral cleft lip", "HP:5201002": "Microform unilateral cleft lip", "HP:5201003": "Complete cleft hard palate", "HP:5201004": "Incomplete cleft hard palate", "HP:5201005": "Complete cleft soft palate", "HP:5201006": "Incomplete cleft soft palate", "HP:5201007": "Incomplete cleft maxillary alveolar ridge", "HP:5201008": "Complete cleft maxillary alveolar ridge", "HP:5201009": "Complete cleft of the upper lip", "HP:5201010": "Microform cleft of the upper lip", "HP:5201011": "Complete bilateral cleft lip", "HP:5201012": "Incomplete bilateral cleft lip", "HP:5201013": "Microform bilateral cleft lip", "HP:5201014": "Asymmetric bilateral cleft lip" }