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expanded_terms.yaml
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expanded_terms.yaml
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http://purl.obolibrary.org/obo/HP_0002671: ['carcinoma, basal cell', bcc, basal cell skin carcinoma, epithelioma basal cell,
skin basal cell cancer, rodent ulcer, malignant basal cell neoplasm, basal cell neoplasm,
basal cell epithelioma, basal cell cancer, malignant basal cell tumor (morphologic abnormality),
malignant basal cell tumor, basal cell tumor (morphologic abnormality), basal cell neoplasm nos (morphologic abnormality),
basal cell tumor, epithelioma basal cell (disorder), basal cell neoplasm (morphologic abnormality),
'"basal cell neoplasm" exact []', '"malignant basal cell tumor" exact []', basaloma,
basal cell nevus, basalioma, bcc1, 基底細胞癌, 基底細胞がん, basal cell carcinoma]
http://purl.obolibrary.org/obo/HP_0001263: [developmental defects]
http://purl.obolibrary.org/obo/HP_0006746: [nf, von reklinghausen disease, neurofibromatoses, von recklinghausen's disease,
neuromatosis, recklinghausen's disease, multiple neuroma, multiple fibromatosis,
neurofibromatosis]
http://purl.obolibrary.org/obo/HP_0009588: [vestibular schwannomas]
http://purl.obolibrary.org/obo/HP_0100009: [cranial meningiomas]
http://purl.obolibrary.org/obo/HP_0010302: [spinal tumours]
http://purl.obolibrary.org/obo/HP_0000404: [hearing loss, hypoacuity auditory, hearing impaired, auditory disorder,
cochlear nerve damage, auditory hypoacuity, hearing reduced, auditory disorder (nos),
hearing decreased, disability, norrie's disease, cockayne's syndrome, complete hearing loss,
johanson-blizzard syndrome, jbs, 難聴, difficulty hearing, hearing impairment, impaired sensory perception of sound,
impaired perception of sound, hearing defect, congenital hearing loss, surdité,
'"complete hearing loss" exact []', hard of hearing, hardness of hearing, dysacousis,
deaf-mutism, impaired hearing, anacusia, deaf, 難聴疾患, no hearing, anacousia, ろう,
auditory disturbance, anacusis, deafmutism, 聴力喪失, deafness]
http://purl.obolibrary.org/obo/HP_0000360: [ringing in ears, ear roaring, ear noises, ear buzzing, ear hissing, ear crackling,
ear ringing, 'ears, ringing in', sensation of noise, ringing in the ears, 耳鳴り, ringing in the ear,
susurrus aurium, tympanophony, tympanophonia, ear noise, buzzing in the ear, 耳鳴,
響鳴, tinnitus]
http://purl.obolibrary.org/obo/HP_0001324: [decreased muscle strength, 筋力低下, incomplete paralysis, muscular weakness,
limb girdle weakness, 'muscular weakness, limb-girdle', weakness, muscle decreased strength,
'weakness, muscular', parésie, diminished muscle strength, muscle strength reduced,
faiblesse du muscle, faiblesse de muscle, faiblesse musculaire, 筋衰弱, 筋脱力, muscle weakness]
http://purl.obolibrary.org/obo/HP_0003202: [muscle weakness or wasting]
http://purl.obolibrary.org/obo/HP_0001250: [seizure, epileptic seizure, unprovoked seizure, convulsion, fit, attaques,
attaque, crise (neurologique), crises d'épilepsie, crises épileptiques, seizures]
http://purl.obolibrary.org/obo/HP_0002321: [head spinning, head revolving around, spinning sensation, めまい, dizzy spell,
megrim, dizziness, めまい感, 眩暈, 眩暈感, 目まい, 目眩, 眩暈症, 目眩症, giddiness, vertigo]
http://purl.obolibrary.org/obo/HP_0000618: [amaurosis, vision loss, hemeralopia, total vision loss, visual perception absent,
disability, norrie's disease, leber's congenital amaurosis, vision impairment, visual impairment,
失明, unqualified visual loss, loss of vision, ablepsia, 視力喪失, visual loss, caligo,
ablepsy, 視覚消失, loss of sight, 盲目, 全盲, 盲目状態, 盲, 視覚消失症, めくら, blindness]
http://purl.obolibrary.org/obo/HP_0000957: [café au lait spots]
http://purl.obolibrary.org/obo/HP_0008069: [skin tumours]
http://purl.obolibrary.org/obo/HP_0000518: [opacity lenticular, lenticular opacity, lenticular opacities, 水晶体混濁,
lens opacity]
http://purl.obolibrary.org/obo/HP_0003813: [inter-family differences]
http://purl.obolibrary.org/obo/HP_0004467: [earpit]
http://purl.obolibrary.org/obo/HP_0000410: [mixed hearing impairment, 'hearing loss, mixed', mixed conductive and sensorineural hearing loss,
mixed conductive and sensorineural deafness, 'hearing loss, mixed conductive-sensorineural',
mixed hearing loss]
http://purl.obolibrary.org/obo/HP_0000365: [hearing impairment, hypoacuses, loss of hearing, 'loss, hearing', deafness,
hypoacusis, congenital deafness, hearing defect, impaired perception of sound, impaired sensory perception of sound,
hearing disorder, hearing disorders, hard of hearing, loss of hearing power, 聴力低下,
聴力障害, 聴力損失, dysacusis, dysacousia, auditory disorder, hearing loss]
http://purl.obolibrary.org/obo/HP_0000405: [conduction]
http://purl.obolibrary.org/obo/HP_0000381: [ankylosis of the stapes]
http://purl.obolibrary.org/obo/HP_0004452: [disconnection of the ossicular chain]
http://purl.obolibrary.org/obo/HP_0001614: [hypernasal voice, nasal voice, nasal speech, hypernasal speech]
http://purl.obolibrary.org/obo/HP_0004322: [continued growth along the third centile]
http://purl.obolibrary.org/obo/HP_0000006: [autosomal dominant, autosomique dominante, autosómica dominante, autosomaal dominant,
autosomal-dominant]
http://purl.obolibrary.org/obo/HP_0003008: [multiple neoplasia]
http://purl.obolibrary.org/obo/HP_0003745: [new mutation, 新規遺伝子変異, de novo突然変異, de novo突然変異, de novo mutation]
http://purl.obolibrary.org/obo/HP_0004375: [nervous system tumours]
http://purl.obolibrary.org/obo/HP_0100008: [schwannomas]
http://purl.obolibrary.org/obo/HP_0002858: [meningiomas]
http://purl.obolibrary.org/obo/HP_0002888: [ependymomas]
http://purl.obolibrary.org/obo/HP_0009592: [astrocytomas]
http://purl.obolibrary.org/obo/HP_0001067: [neurofibromatosis, neurofibromata, increased neurofibroma incidence,
increased fibroneuroma incidence, neurofibromas]
http://purl.obolibrary.org/obo/HP_0009830: [neuropathy, peripheral nerve disorder, peripheral neuritis, peripheral nerve damage,
peripheral nerve disorders, peripheral; neuropathic, pns diseases, peripheral nervous system dis,
maladies du système nerveux périphérique, peripheral nervous system diseases, pns dis,
disorder of the peripheral nervous system, trouble nerveux périphérique, pns (peripheral nervous system) diseases,
peripheral nervous sys.dis.nos, neuropathie peripherique, mononévrite, peripheral nerve dis,
peripheral nervous system disorders, peripheral nerve disease, peripheral nervous system diseases and syndromes,
section a-4 disorders of the peripheral nervous system, affection du système nerveux périphérique,
peripheral nervous system disease or syndrome, pns disorder, pns peripheral nervous system dis,
affection nerveuse périphérique, peripheral nerve diseases, neuropathies périphériques,
neuropathy peripheral, 末梢性神経障害, 末梢性ニューロパシー, peripheral neuropathy]
http://purl.obolibrary.org/obo/HP_0000478: [ophthalmological lesions]
http://purl.obolibrary.org/obo/HP_0100014: [epiretinal membranes]
http://purl.obolibrary.org/obo/HP_0009594: [retinal hamartomas]
http://purl.obolibrary.org/obo/HP_0000951: [cutaneous lesions]
http://purl.obolibrary.org/obo/HP_0009756: [popliteal pterygium]
http://purl.obolibrary.org/obo/HP_0000924: ['skeletal, genital malformations']
http://purl.obolibrary.org/obo/HP_0000078: [genital malformations]
http://purl.obolibrary.org/obo/HP_0000202: [orofacial clefting]
http://purl.obolibrary.org/obo/HP_0000196: [lip pit, lip pits]
http://purl.obolibrary.org/obo/HP_0100333: [unilateral cheiloschisis, one sided cleft upper lip, unilateral cleft upper lip,
unilateral cleft lip]
http://purl.obolibrary.org/obo/HP_0100334: [片側性唇顎口蓋裂, 片側性口唇口蓋裂, unilateral cleft lip and palate]
http://purl.obolibrary.org/obo/HP_0009755: [eyelid synechiae, eyelids stuck together, adhesion of eyelids, 眼瞼癒着症,
ankyloblepharon]
http://purl.obolibrary.org/obo/HP_0100269: [paramedian lip pits]
http://purl.obolibrary.org/obo/HP_0000104: [renal aplasia]
http://purl.obolibrary.org/obo/HP_0000122: [unilateral renal aplasia]
http://purl.obolibrary.org/obo/HP_0008743: [coronal hypospadias]
http://purl.obolibrary.org/obo/HP_0000047: [hypospadia, hypospadis, 尿道下裂, hypospadias]
http://purl.obolibrary.org/obo/HP_0000792: [renal malformation]
http://purl.obolibrary.org/obo/HP_0003812: [difference, variation, change, homozygocity, genotyping, heterozygocity,
genomic variation, test, strain, modification, genotype, hemizygous, homozygous,
present form, haplotype\/genotype, testing, form, heterozygous, 易変性, 可変性, 変動可能性,
可変, 変化性, 変動性, variability]
http://purl.obolibrary.org/obo/HP_0001251: [balance difficulty, instability gait, ataxie, uncoordination, unsteady gait,
gait instability, unsteady walk, walk is wobbly or unsteady, dyssynergie, 'ataxie,
sans précision', coordination impairment, ataxique, ataxy, walk is wobbly or unsteady as symptom,
dyssynergia, trouble de la coordination, incoordination musculaire, '', dyscoordination,
incoordination, 運動失調症, 運動失調, 協調運動障害, 失調症, 失調, ataxia]
http://purl.obolibrary.org/obo/HP_0000749: [episodes of paroxysmal laughter]
http://purl.obolibrary.org/obo/HP_0000252: [microcrania, microencephaly, microcephalus, decreased circumference of cranium,
decreased size of skull, abnormally small skull, decreased size of head, abnormally small head,
small skull, decreased size of cranium, abnormally small cranium, reduced head circumference,
small head, small cranium, small calvarium, small head circumference, decreased head circumference,
reduced head size, decreased head size, reduced cranium size, decreased cranium size,
head decreased size, microcéphalie, microcefalia, mikrozephalie, 小頭症, microseme,
小頭, microcephalia, microcephaly]
http://purl.obolibrary.org/obo/HP_0002051: [hypertrophy of lower jaw, hypertrophy of mandible, prominent lower jaw,
enlargement of mandible, lower jaw excess, mandibular macrognathia, mandibular hyperplasia,
prognathia, increased projection of mandble, mandible prognathism, mandibular excess,
large mandible, large lower jaw, enlarged mandible, hyperplasia of lower jaw, big lower jaw,
prominent chin, increased projection of lower jaw, macromandible, prominent mandible,
big mandible, increased size of lower jaw, relative mandibular prognathism, lower jaw hyperplasia,
mandibular prognathism, prognathism, mandibular prognathia, increased projection of mandible,
prominent jaw]
http://purl.obolibrary.org/obo/HP_0000154: [broad mouth, large mouth, large oral aperture, macrostomia, wide mouth]
http://purl.obolibrary.org/obo/HP_0000307: [pointed mention region, witch's chin, pointy chin, pointed chin]
http://purl.obolibrary.org/obo/HP_0000182: [tongue thrusting]
http://purl.obolibrary.org/obo/HP_0002066: [ataxic gait]
http://purl.obolibrary.org/obo/HP_0002136: ['wide based, ataxic gait']
http://purl.obolibrary.org/obo/HP_0002276: [jerky limb movements]
http://purl.obolibrary.org/obo/HP_0100023: [flapping of the hands]
http://purl.obolibrary.org/obo/HP_0010609: [acrochorda, skin tags]
http://purl.obolibrary.org/obo/HP_0003593: [early age]
http://purl.obolibrary.org/obo/HP_0200034: [pedunculated papules]
http://purl.obolibrary.org/obo/HP_0002664: [tumors]
http://purl.obolibrary.org/obo/HP_0000005: [familial cases]
http://purl.obolibrary.org/obo/HP_0000707: [neurological signs]
http://purl.obolibrary.org/obo/HP_0001999: [facial characteristics]
http://purl.obolibrary.org/obo/HP_0001010: [hypopigmentation of skin]
http://purl.obolibrary.org/obo/HP_0005599: [hypopigmentation of skin or hair]
http://purl.obolibrary.org/obo/HP_0007513: [pigment dilution, hypopigmented skin, decreased skin pigmentation, patchy lightened skin,
mild localized pigmentation abnormalities, 低色素, 低色素症, hypopigmentation]
http://purl.obolibrary.org/obo/HP_0008935: [hypotonic at birth]
http://purl.obolibrary.org/obo/HP_0001548: [過成長, overgrowth]
http://purl.obolibrary.org/obo/HP_0000724: [voracious appetite, polyphagia, over eating, hyperphagia]
http://purl.obolibrary.org/obo/HP_0001513: [fat tissue increased, obese (finding), obese, adiposity, adiposis, overweight,
obésité, having too much body fat, 肥満, leanness, obésité exogène, adiposité, adipose,
'obésité, sans précision', obésité alimentaire, obésité simple, corpulence, corpulency,
肥満症, fatness, 肥胖病, obesity]
http://purl.obolibrary.org/obo/HP_0003828: [variable severity, variable expressivity]
http://purl.obolibrary.org/obo/HP_0010603: [keratocysts of the jaws]
http://purl.obolibrary.org/obo/HP_0010610: [palmar and/or plantar pits]
http://purl.obolibrary.org/obo/HP_0010612: [plantar pits]
http://purl.obolibrary.org/obo/HP_0002514: [intracranial calcifications]
http://purl.obolibrary.org/obo/HP_0005462: [calcification of falx cerebri]
http://purl.obolibrary.org/obo/HP_0009797: [コレステリン腫, 真珠腫, pearly tumor, pearl tumor, chole, cholesteatoma]
http://purl.obolibrary.org/obo/HP_0010827: [anomalies of the facial nerve]
http://purl.obolibrary.org/obo/HP_0009794: ['branchial arch, otic, and renal malformations']
http://purl.obolibrary.org/obo/HP_0000598: ['otic, and renal malformations']
http://purl.obolibrary.org/obo/HP_0007787: [posterior subcapsular/capsular cataract]
http://purl.obolibrary.org/obo/HP_0000523: [subcapsular/capsular cataract]
http://purl.obolibrary.org/obo/HP_0100017: [水晶嚢白内障, capsular cataract]
http://purl.obolibrary.org/obo/HP_0100019: [peripheral cortical lens opacities]
http://purl.obolibrary.org/obo/HP_0008011: [peripheral cortical cataracts]
http://purl.obolibrary.org/obo/HP_0007876: [cortical cataracts of early onset]
http://purl.obolibrary.org/obo/HP_0100024: [happy disposition]
http://purl.obolibrary.org/obo/HP_0000752: [hyperactive behaviour]
http://purl.obolibrary.org/obo/HP_0000248: [broad head shape, broad skull shape, wide cranium shape, wide head shape,
wide skull shape, broad cranium shape, short and broad skull, shortened head, brachycephalus,
短頭, brachycephalia, brachycephalism, brachycephaly]
http://purl.obolibrary.org/obo/HP_0000181: [wide mouth, broad mouth, large oral aperture, large mouth, 大口, 大口症, macrostomia]
http://purl.obolibrary.org/obo/HP_0010808: [tongue protrusion]
http://purl.obolibrary.org/obo/HP_0000303: [mandibular prognathism]
http://purl.obolibrary.org/obo/HP_0000687: [wide-spaced teeth, multiple diastemata, generalized dental spacing, widely-spaced teeth,
generalized spacing of teeth, wide gaps between baby teeth, wide gaps between primary teeth,
widely spaced milk teeth, generalized spacing of primary teeth, widely spaced deciduous teeth,
widely spaced baby teeth, widely spaced primary teeth, widely spaced teeth]
http://purl.obolibrary.org/obo/HP_0100022: [puppetlike movements]
http://purl.obolibrary.org/obo/HP_0001249: [imbecility, mongolism, amentia, idiocy, retardation mental, development psychomotor impaired,
psychomotor development impaired, oligophrenia, syndrome down's, down's syndrome,
deficiency mental, mental deficiency, moronity, intellectual disability, intellectual disabilities,
'disability, intellectual', mental defic, 'deficiencies, mental', 'disabilities,
intellectual', 'retardation, psychosocial mental', 'deficiency, mental', defic mental,
'retardations, psychosocial mental', 'retardation, mental', mental deficiencies,
sjogren larsson syndrome, norrie's disease, laurence moon biedl syndrome, nonprogressive intellectual disability,
mental-retardation, low intelligence, 'retard mental, sans précision', oligophrénie,
retards mentaux, intellectual functioning disab, intellectual limitation, deficiency;mental,
arriérations mentales, retard mental, arrieration mentale, retardation mentale,
intellectual functioning disability, handicap intellectuel, 'retard mental, sévérité
non spécifiée', incapacité intellectuelle, mental retardation]
http://purl.obolibrary.org/obo/HP_0001617: [absence of speech]
http://purl.obolibrary.org/obo/HP_0003576: [diagnosis in infants]
http://purl.obolibrary.org/obo/HP_0000708: [behavioral characteristics]
http://purl.obolibrary.org/obo/HP_0002650: [scoliose, lordosis, curvature of spine, curved spine, abnormal curving of the spine,
脊柱側弯症, 脊柱側彎症, 側彎症, 側彎, 側弯, 脊椎側弯症, 脊椎側彎症, 側弯症, 脊柱側彎, 脊柱側弯, scoliosis]
http://purl.obolibrary.org/obo/HP_0009373: [brachydactylie type c, bdc, brachydaktylie typ c, braquidactilia tipo c,
'brachidattilia, tipo c', brachydactyly type c]
http://purl.obolibrary.org/obo/HP_0010109: [shortening of the big toes]
http://purl.obolibrary.org/obo/HP_0000378: ['simple, cup-shaped ears', cup-shaped ears, cupped ear, cupped ears]
http://purl.obolibrary.org/obo/HP_0000175: [cleft lip and palate, palate and lip cleft, palate cleft, lip and palate cleft,
uranostaphyloschisis (disorder), palatoschisis, cleft velum, uranostaphyloschisis,
cleft of palate, cleft hard and soft palate, cleft of hard and soft palate, cleft secondary palate,
cleft roof of mouth, 'palates, cleft', 'palate, cleft', paladar hendido, fente vélo-palatine,
fente palatine, gespleten verhemelte, gaumenspalte, uranoschisis, oral clefts, palatum fissum,
uraniscochasm, 口蓋裂, uranoschism, wolf throat, cleft palate]
http://purl.obolibrary.org/obo/HP_0001770: [webbed 2nd-5th toes, 2-3 toe soft tissue syndactyly, webbed 2nd and 3rd toes,
partial or complete syndactyly 2nd-3rd toes, syndactyly of second and third toes,
complete cutaneous syndactyly of second and third toes, cutaneous syndactyly of second and third toes,
syndactyly (2-3) (feet), 2-3 toes syndactyly, 2-3 syndactyly of feet, webbed 3rd-5th toes,
webbed first through fourth toes, webbed first and second toes, syndactyly of feet,
syndactyly of toes, webbed toes, fused toes, syndactyly (feet), foot syndactyly,
webbed 1st-3rd toes, toe syndactyly]
http://purl.obolibrary.org/obo/HP_0009577: ['shortening of the middle phalanges of the index, middle, and little
finger']
http://purl.obolibrary.org/obo/HP_0010235: [supernumerary phalanges, supernumerary phalanx, hyperphalangie, phalange surnuméraire,
hiperfalangia, falanges supernumerarias, falange supernumeraria, überzählige phalangen,
hyperfalangie, overtollige phalanges, overtollige phalanx, hyperphalangy]
http://purl.obolibrary.org/obo/HP_0009495: ['hyperphalangy, usually of the index and middle finger']
http://purl.obolibrary.org/obo/HP_0009464: [ulnar deviation of the second and third digits]
http://purl.obolibrary.org/obo/HP_0010047: [shortening of the metacarpals iv and v]
http://purl.obolibrary.org/obo/HP_0004150: [abnormal segmentation of the index and middle fingers]
http://purl.obolibrary.org/obo/HP_0003822: [high degree of variable expression in members of the same family]
http://purl.obolibrary.org/obo/HP_0100001: [malignant mesothelial neoplasm, malignant tumor of the mesothelium, malignant neoplasm of the mesothelium,
malignant neoplasm of mesothelium, malignant tumor of mesothelium, malignant mesothelial tumor,
'mesothelioma, malignant', 'sarcoma, mesothelial', mesothelial sarcoma, mesothelioma,
malignant mesothelioma]
http://purl.obolibrary.org/obo/HP_0006741: [susceptible to mesothelioma]
http://purl.obolibrary.org/obo/HP_0001054: [basal cell nevus]
http://purl.obolibrary.org/obo/HP_0003829: [nonpenetrance]
http://purl.obolibrary.org/obo/HP_0003578: [child life stage, enfance, infancia, kindheit, kindertijd, 小児期, 幼少期,
幼児期, 児童期, childhood]
http://purl.obolibrary.org/obo/HP_0100006: [brain tumour]
http://purl.obolibrary.org/obo/HP_0002885: ['infratentorial primitive neuroectodermal tumor ', localized primitive neuroectodermal tumor,
cns pnet, cpnet, infratentorial primitive neuroectodermal tumor, cerebellum embryonal neoplasm,
medullomyoblastomas, medullomyoblastoma, 'arachnoidal cerebellar sarcoma, circumscribed',
'sarcoma, cerebellar, circumscribed arachnoidal', mdb, mben, meduloblastoma, medulloblastom,
médulloblastome, tumor neuro-ectodérmico primitivo, 'tumor, neuroektodermaler primärer',
medulloblastoom, primitive neuroendocrine tumour, primitive neuroendocrine tumor,
髄芽細胞腫, 髄芽腫, medulloblastoma]
http://purl.obolibrary.org/obo/HP_0005684: [distal arthrogryposes]
http://purl.obolibrary.org/obo/HP_0005188: [multiple congenital contractures]
http://purl.obolibrary.org/obo/HP_0003121: [contractures of the distal limbs]
http://purl.obolibrary.org/obo/HP_0000377: [abnormal pinnae, outer ear abnormality, ear anomalies, malformed pinnae,
abnormality of the auricle, abnormality of the outer ear, abnormality of the external ear,
phenotypic abnormality of external ear, phenotypic abnormality of external ear and (part of some head),
external ear malformations]
http://purl.obolibrary.org/obo/HP_0000077: [renal anomalies]
http://purl.obolibrary.org/obo/HP_0009795: [branchial fistulae]
http://purl.obolibrary.org/obo/HP_0001156: [short digits, short fingers, short toes, short digit, short fingers or toes,
brachydactyly]
http://purl.obolibrary.org/obo/HP_0009881: [absence of some middle or distal phalanges]
http://purl.obolibrary.org/obo/HP_0001798: [aplastic or hypoplastic nails]
http://purl.obolibrary.org/obo/HP_0001792: [hypoplastic nails]
http://purl.obolibrary.org/obo/HP_0100264: [fusion of phalanges in a digit, symphalangism]
http://purl.obolibrary.org/obo/HP_0008090: [ankylois of proximal interphalangeal joints]
http://purl.obolibrary.org/obo/HP_0008368: [synostosis of some carpal and tarsal bones]
http://purl.obolibrary.org/obo/HP_0001363: [premature closure of cranial sutures, saethre chotzen syndrome, synostosis (cranial),
craniosynostose, craneosinostosis, kraniosynostose, craniosyostosis, premature fontanel closure,
cranial suture synostosis, early fusion of cranial sutures, premature suture closure,
deformity of the skull, craniosynostoses, premature closure of fontanelles, early closure of the cranial sutures,
early closure of the fontanelles, premature closure of the bregma sutures, obliterated fontanelles,
early closure of the bregma sutures, premature closure of the cranial sutures, premature cranial suture closure,
craniostosis, premature craniofacial suture closure, early fusion of craniofacial sutures,
premature fontanelle closure, early fontanelle closure, obliterated fontanels, early closure of the soft spots,
craniosynostosis]
http://purl.obolibrary.org/obo/HP_0001385: [dysplastic hip joints]
http://purl.obolibrary.org/obo/HP_0002187: ['mental retardation, severe', 'intellectual disability, severe', 重度精神発達遅滞,
severe imbecility, severe mental retardation]
http://purl.obolibrary.org/obo/HP_0002311: [equilibrium disorder of (nos), dysequilibrium, asynergia, astasia, clumsiness,
writing impaired, disorder equilibrium, station abnormal, instability station, adiadokokinesis,
fumbling, coordination abnormal, dysmetria, coordination impaired, dysdiadochokinesis,
difficulties in coordination, uncoordinated, dyscoordination, perte de la coordination,
coordination problem, 'coordination disorder,', coordination disorder (dyspraxia),
anomalie de la coordination, lack of coordination, coordination anormale, manque de coordination,
non coordonné, co-ordination disorder, troubles de la coordination, coordination disorder,
coordination disease or syndrome, abnormal coordination, incoordination]
http://purl.obolibrary.org/obo/HP_0002591: [voracious appetite]
http://purl.obolibrary.org/obo/HP_0001290: [flaccidity muscle, weakness voluntary muscle, muscle tone flaccid, hypomyotonia,
hypotonus, hypotonicity, poor muscle tone, low or weak muscle tone, hypotonia]
http://purl.obolibrary.org/obo/HP_0002004: [facial appearance]
http://purl.obolibrary.org/obo/HP_0000316: [excessive orbital separation, widely spaced eyes, increased distance between eye sockets,
increased distance between eyes, increased interpupillary distance, wide-set eyes,
widened interpupillary distance, increased distance between the eyes, wide set eyes,
increased distance between the eye sockets, increased interorbital distance, increased inner canthal distance,
wider inner canthal distance, euryopia, 眼間隔離症, 隔離症, hypertelorism]
http://purl.obolibrary.org/obo/HP_0000407: [perceptive hearing loss or deafness, high frequency hearing loss, sensory hearing loss,
'hearing loss, central', high frequency deafness, high-frequency hearing loss, 'perceptive
deafness [diagnos]', perceptive hearing loss, central hearing loss, sensorineural deafness,
x-linked mixed deafness with perilymphatic gusher, nance deafness, x-linked mixed conductive and neurosensory hearing loss,
x-linked mixed conductive and neurosensory deafness, dfnx2, 'deafness mixed with
perilymphatic gusher, x-linked', x-linked deafness type 2, conductive deafness with stapes fixation,
perceptive deafness, x-linked mixed conductive and sensorineural deafness, x-linked stapes gusher syndrome,
'deafness, x-linked type 2', 'hearing loss, sensorineural', sensorineural hearing impairment,
deafness neurosensory, sensori-neural deafness, 感音難聴, neuro sensory deafness, sensori-neural hearing loss,
perception deafness, snhl, sensorineural hearing loss]
http://purl.obolibrary.org/obo/HP_0002167: [speech impediment]
http://purl.obolibrary.org/obo/HP_0002700: [enlarged foramen magnum]
http://purl.obolibrary.org/obo/HP_0002363: [brainstem abnormality]
http://purl.obolibrary.org/obo/HP_0009589: [bilateral vestibular schwannomas]
http://purl.obolibrary.org/obo/HP_0001425: [heterogeneous, 非均一性, 不均質性, 非一様性, 不均等性, 非均質性, 異質性, 不均一性, heterogeneity]
http://purl.obolibrary.org/obo/HP_0009371: [brachydactylie type a1, brachydactylie type farabee, braquidactilia tipo a1,
'brachydactyly, farabee type', brachydaktylie typ a1, brachydaktylie typ farabee,
farabee type brachydactyly, bda1, 'brachydactylie, farabee-type', brachydactyly farabee type,
'brachidattilia, tipo farabee', 'braquidactilia, tipo farabee', 'brachidattilia,
tipo a1', brachydactyly type a1]
http://purl.obolibrary.org/obo/HP_0002813: [limb malformation]
http://purl.obolibrary.org/obo/HP_0010240: [shortening of the middle phalanges in all digits]
http://purl.obolibrary.org/obo/HP_0007087: [jerky movements]
http://purl.obolibrary.org/obo/HP_0002133: [grand mal status, repeated seizures without recovery between them, 癲癇重積状態,
てんかん重積状態, prolonged seizure activity, てんかん重積症, てんかん発作重積状態, けいれん重積, status epilepticus]
http://purl.obolibrary.org/obo/HP_0001336: [myoclonic]
http://purl.obolibrary.org/obo/HP_0002123: [estado de mal mioclónico, myoclonic status epilepticus]
http://purl.obolibrary.org/obo/HP_0007359: [focal seizures, localized seizures, partial seizure, focal-onset seizure,
focal-onset seizures, seizure affecting one half of brain, focal seizure, partial seizures]
http://purl.obolibrary.org/obo/HP_0000496: [eye deviation]
http://purl.obolibrary.org/obo/HP_0002013: [emesis, vomit, retching, hyperemesis, gagging, throwing up, 嘔吐, vomissement,
vomi, regurgitation; gastric contents, being sick, おう吐, vomiting]
http://purl.obolibrary.org/obo/HP_0001275: [epilepsies]
http://purl.obolibrary.org/obo/HP_0002353: [electroencephalographic patterns]
http://purl.obolibrary.org/obo/HP_0007030: ['nonprogressive, age-dependent myoclonic encephalopathy']
http://purl.obolibrary.org/obo/HP_0001298: [encephalopathy]
http://purl.obolibrary.org/obo/HP_0001509: [height less than 3rd percentile, decreased body height, small stature,
stature below 3rd percentile, reduced body height, decreased height, reduced height,
小人症, 小人, dwarfism, 矮小発育症, こびと, microsomia, nanocormia, dwarf, short statue, nanism,
nanosomia, dwarfism (disease), 低身長症, 低身長, short stature]
http://purl.obolibrary.org/obo/HP_0000204: [lip cleft, harelip, hare lip, cheiloschisis, labium leporinum, harelips,
'lip, cleft', 'lips, cleft', cleft of the lip, cheiloschisis of upper lip, cleft upper lip,
labium fissum, fissured labium, 唇裂, 三つ口, cleft lip]
http://purl.obolibrary.org/obo/HP_0001159: [web bad fingers, fingers webbed, 'soft tissue union, with or without
osseous union, between adjacent digits', chromosome 2q35 duplication syndrome,
syndactylie non syndromique, sindactilia no sindrómica, niet-syndromale syndactylie,
'syndaktylie, nicht-syndromale', symphalangism, symphalangy, webbing of digits,
fused toes, fused fingers, webbed fingers or toes, sindactilia, syndactylie, syndaktylie,
sindattilia, syndactylus, 合指, symphalangism syndrome, 合指症, 合し, syndactyly]
http://purl.obolibrary.org/obo/HP_0001597: [nail anomalies]
http://purl.obolibrary.org/obo/HP_0001420: [isolated case]
http://purl.obolibrary.org/obo/HP_0000376: [mondini type cochlear malformation]
http://purl.obolibrary.org/obo/HP_0008554: [cochlear malformation]
http://purl.obolibrary.org/obo/HP_0000110: [renal adysplasia, dysplastic kidneys, renotubular dysgenesis, abnormal renal morphology,
structural renal anomalies, structural anomalies of the renal tract, kidney structure issue,
kidney malformation, structural kidney abnormalities, abnormal kidney morphology,
renal malformation, abnormally shaped kidney, kidney dysplasia, dysplasie rénale,
nierendysplasie, renale dysplasie, displasia renal, displasia renale, 'displasia
renal, quística', 腎異形成, dysplastic kidney, congenital renal dysgenesis, renal dysgenesis,
renal dysplasia]
http://purl.obolibrary.org/obo/HP_0004742: [anomalies of the collecting system]
http://purl.obolibrary.org/obo/HP_0007993: [aplasia of the lacrimal ducts]
http://purl.obolibrary.org/obo/HP_0000113: [bilateral polycystic kidneys]
http://purl.obolibrary.org/obo/HP_0002817: [malformations restricted to the upper limbs]
http://purl.obolibrary.org/obo/HP_0009843: [shortening of the middle phalanx of all digits]
http://purl.obolibrary.org/obo/HP_0001204: [fusion of the middle and terminal phalanges]
http://purl.obolibrary.org/obo/HP_0010846: [persistent rhythmic 4-6/s activities]
http://purl.obolibrary.org/obo/HP_0002329: [眠気, sleepiness, somnolence, drowsy, sleepy, excessive daytime somnolence,
more than typical sleepiness during day, assoupi, envie excessive de dormir, état d'assoupissement,
envie de dormir, endormissement, assoupissement, somnolent, drowsiness]
http://purl.obolibrary.org/obo/HP_0000748: [不相応な笑い, inappropriate laughter]
http://purl.obolibrary.org/obo/HP_0000364: [congenital hearing loss, congenital deafness, deafness, hearing defect,
hearing loss, impaired perception of sound, impaired sensory perception of sound,
complete hearing loss, surdité partielle, altération auditive, hypoacusis, perte auditive,
reduction de l'ouie, diminution auditive, difficulty hearing, pertes auditives,
alteration de l'ouie, baisse de l'acuité auditive, 'perte de l’audition, sans précision',
surdité, hearing; defect, audition réduite, malentendant, déficit auditif, hl hearing loss,
decreased hearing, hard of hearing, loss of hearing, hypoacousie, audition diminuée,
hypo-acousie, dur d'oreille, diminution de l'audition, diminution de l'ouie, impaired hearing,
hearing reduced, déficience auditive, hoh hard of hearing, perte d'audition, 'impairment,
hearing', hearing impaired, hearing impairment]
http://purl.obolibrary.org/obo/HP_0000153: ['oral, and craniofacial anomalies']
http://purl.obolibrary.org/obo/HP_0002260: [craniofacial anomalies]
http://purl.obolibrary.org/obo/HP_0000356: [infra-auricular skin defects]
http://purl.obolibrary.org/obo/HP_0000383: [supra-auricular defects]
http://purl.obolibrary.org/obo/HP_0002564: [congenital heart and central nervous system defects]
http://purl.obolibrary.org/obo/HP_0007319: [central nervous system defects]
http://purl.obolibrary.org/obo/HP_0002116: [speech problems]
http://purl.obolibrary.org/obo/HP_0000209: [jaw lesions]
http://purl.obolibrary.org/obo/HP_0000892: [cleft ribs, split ribs, rib fusion, bifid ribs]
http://purl.obolibrary.org/obo/HP_0010618: [ovarian fibromas]
http://purl.obolibrary.org/obo/HP_0001508: [undergrowth, weight faltering, faltering weight, poor weight gain, postnatal growth retardation,
postnatal growth deceleration, postnatal growth failure, postnatal growth deficiency,
growth delay as children, growth retardation as children, growth decreased rate,
ateliosis, retarded growth after birth, atelia, reduced growth rate, decreased growth rate,
stunted growth, ftt, growth disorder, growth disorders, growth insufficiency, developmental disturbance,
defective development, failure of development, underdevelopment, dysgenesis, disturbance of growth,
成長不全, hypogenesis, failure to thrive]
http://purl.obolibrary.org/obo/HP_0001622: [preterm infants]
http://purl.obolibrary.org/obo/HP_0000772: [abnormal ribs]
http://purl.obolibrary.org/obo/HP_0002060: ['"sotos syndrome" exact []', sotos syndrome, sotos' syndrome, cerebral gigantism]
http://purl.obolibrary.org/obo/HP_0000238: [fetal ventriculomegaly, hydrocephaly, too much cerebrospinal fluid in the brain,
hydroencephaly, hydrencephaly, hydrencephalus, water on the brain, 'hydrocéphalie,
sans précision', hydrocéphalie, hydrocephalia, 水頭症, hydrocephalus]
http://purl.obolibrary.org/obo/HP_0002118: [ventricular malformation]
http://purl.obolibrary.org/obo/HP_0001317: [syndrome cerebellar, cerebellar syndrome]
http://purl.obolibrary.org/obo/HP_0006860: [oculomotor disturbances]
http://purl.obolibrary.org/obo/HP_0000759: [peripheral nervous disorders]
http://purl.obolibrary.org/obo/HP_0004363: [カルシウム代謝, calcium metabolism]
http://purl.obolibrary.org/obo/HP_0003680: [non-progressive, stationary, does not worsen, nonprogressive]
http://purl.obolibrary.org/obo/HP_0000464: [skin defects in the neck]
http://purl.obolibrary.org/obo/HP_0010783: [erythematous wrinkled skin]
http://purl.obolibrary.org/obo/HP_0009796: ['cervical pits, cysts']
http://purl.obolibrary.org/obo/HP_0007678: [narrowing of the tear duct, lacrimal duct stenosis, delayed canalization of nasolacrimal duct,
nasolacrimal duct stenosis]
http://purl.obolibrary.org/obo/HP_0010557: [overlapping fingers at birth]
http://purl.obolibrary.org/obo/HP_0006143: [abnormal digital flexion creases]
http://purl.obolibrary.org/obo/HP_0001760: [足の形態異常, foot deformity, foot deformities]
http://purl.obolibrary.org/obo/HP_0001762: [clubfeet, clubfoot, equinovarus, pes equinovarus, club feet, club foot,
pes equinus, talipes varus, talipes, talipes equino varus, clubbed feet, talipes equinovarus]
http://purl.obolibrary.org/obo/HP_0001838: [rocker bottom feet, rockerbottom feet, rocker-bottom feet, rocker bottom foot,
vertical talus]
http://purl.obolibrary.org/obo/HP_0009591: [8th cranial nerve]
http://purl.obolibrary.org/obo/HP_0001291: [lesions of further cranial nerves]
http://purl.obolibrary.org/obo/HP_0002516: [increasing intracranial pressure]
http://purl.obolibrary.org/obo/HP_0009735: [spinal neurofibromas]
http://purl.obolibrary.org/obo/HP_0009737: [iris hamartomas, lisch nodules]
http://purl.obolibrary.org/obo/HP_0001466: [microdeletion/duplication syndrome, 隣接遺伝子症候群, adjacent gene syndrome,
contiguous gene syndrome]
http://purl.obolibrary.org/obo/HP_0002141: [movement and balance disorder]
http://purl.obolibrary.org/obo/HP_0001022: [hps (hermansky pudlak syndrome), hermansky pudlak syndrome, achromasia,
generalized hypopigmentation, pale pigmentation, fair skin, albinism]
http://purl.obolibrary.org/obo/HP_0000639: ['involuntary, rapid, rhythmic eye movements', rapid involuntary rhythmic eye movement,
nistagmo, 眼球振とう, 眼振, nystragmus, 眼球振盪, nystagmus]
http://purl.obolibrary.org/obo/HP_0000486: [heterotropia, squint, squint eyes, cross-eyed, esodeviation, esotropia,
inward turning cross eyed, cross eyed, phorias, 'heterophoria,', disord binoc eye movem,
disorder of binocular eye movements, hétérotropie, 'strabisme, sans précision',
defaut convergence axes visuels, anomalie des mouvements binoculaires, ocular dissociation,
hétérophorie, anomalie des mouvements conjugués des yeux, squinting, phories, crossed eye,
heterophoria, strabisme latent, strabisme, hetrotropy, tropia, 斜視, strabism, やぶにらみ,
strabismus]
http://purl.obolibrary.org/obo/HP_0007746: [reduced retinal pigment]
http://purl.obolibrary.org/obo/HP_0004378: ['anal, thumb, and ear anomalies']
http://purl.obolibrary.org/obo/HP_0001172: ['thumb, and ear anomalies']
http://purl.obolibrary.org/obo/HP_0000118: [organ system abnormalities]
http://purl.obolibrary.org/obo/HP_0000271: [craniofacial findings]
http://purl.obolibrary.org/obo/HP_0002023: [anal atresia, congenital atresia of anus, congenital or infantile occlusion of anus,
anus imperforate, imperforate anus]
http://purl.obolibrary.org/obo/HP_0001140: [benign eye tumor, epibulbar dermoid, limbal dermoid, epibulbar dermoids]
http://purl.obolibrary.org/obo/HP_0000384: [preauricular tags]
http://purl.obolibrary.org/obo/HP_0000210: [small mandible, hypoplastic mandible, severe hypoplasia of mandible,
hypoplasia of mandible, hypoplastic mandible condyle, robin mandible, mandibular hypoplasia,
small jaw, micrognathism, congenital micrognathism, small lower jaw, hypoplasia of lower jaw,
decreased size of mandible, underdevelopment of mandible, lower jaw hypoplasia,
deficiency of lower jaw, micromandible, hypotrophic mandible, lower jaw retrusion,
little mandible, lower jaw retrognathia, lower jaw deficiency, underdevelopment of lower jaw,
hypotrophic lower jaw, mandibular retrognathia, decreased size of lower jaw, decreased projection of lower jaw,
mandibular deficiency, decreased projection of mandible, little lower jaw, mandibular retrusion,
mandibular arch skeleton decreased size, brachygnathism, brachygnathia, '''decreased
jaw size''', micrognathia]
http://purl.obolibrary.org/obo/HP_0002818: ['radial, and anal findings']
http://purl.obolibrary.org/obo/HP_0002744: [bilateral cleft lip and cleft palate, right and left cleft lip and palate,
bilateral cleft lip and palate]
http://purl.obolibrary.org/obo/HP_0007633: [abnormally small eyeball on both sides, decreased size of globes of eyes,
bilateral nanophthalmos, decreased size of eyeballs, 'microphthalmia, bilateral',
small eyes, 'microphthalmos, bilateral', bilateral microphthalmos]
http://purl.obolibrary.org/obo/HP_0007995: [ocular colobomata]
http://purl.obolibrary.org/obo/HP_0004741: [dysplastic left kidney]
http://purl.obolibrary.org/obo/HP_0004675: [milder facial anomalies]
http://purl.obolibrary.org/obo/HP_0000288: [abnormality of the infranasal depression, abnormality of the paralabial region,
abnormal philtrum, phenotypic abnormality of philtrum, abnormality of the philtrum]
http://purl.obolibrary.org/obo/HP_0000579: [tear-duct blockage, nasolacrymal duct occlusion, nasolacrymal duct obstruction,
nasolacrimal duct occlusion, lacrimal duct obstruction, blocked tear duct, obstructio ductus nasolacrimalis,
鼻涙管閉塞, 鼻涙管閉塞症, nasolacrimal duct obstruction]
http://purl.obolibrary.org/obo/HP_0007669: [bilateral congenital nasolacrimal duct obstruction]
http://purl.obolibrary.org/obo/HP_0000322: [decreased vertical dimension of philtrum, decreased height of philtrum,
decreased length of philtrum, vertical hypoplasia of philtrum, decreased vertical dimension of the philtrum,
reduced philtral length, reduced philtral height, decreased philtrum length, decreased philtrum height,
reduced philtrum length, reduced philtrum height, shortened philtrum, decreased philtral length,
decreased philtral height, short philtrum]
http://purl.obolibrary.org/obo/HP_0006751: [paraspinal neurinoma]
http://purl.obolibrary.org/obo/HP_0002803: [congenital joint contractures, congenital contracture, congenital contractures]
http://purl.obolibrary.org/obo/HP_0001511: [intrauterine and postnatal growth retardation]
http://purl.obolibrary.org/obo/HP_0001510: [retard de croissance, 発育遅延, retarded growth, growth suppression, 成長遅延,
developmental retardation, developmental delay, growth retarded, arrested development,
developmental arrest, growth retardation]
http://purl.obolibrary.org/obo/HP_0008865: [decreased growth rate, stunted growth, reduced growth rate, atelia, ateliosis,
retarded growth after birth, failure to thrive, weight faltering, postnatal failure to thrive,
faltering weight, undergrowth, postnatal growth deceleration, postnatal growth failure,
postnatal growth deficiency, growth delay as children, growth retardation as children,
growth decreased rate, postnatal growth retardation]
http://purl.obolibrary.org/obo/HP_0002216: [progeroid appearance, 'alterung, vorzeitige', vroegtijdige veroudering,
vieillissement prématuré, envejecimiento prematuro, progeria, hutchinson gilford syndrome,
premature ageing, aging premature, invecchiamento precoce, envelhecimento prematuro,
premature aging]
http://purl.obolibrary.org/obo/HP_0010848: [2-3 cps spike and wave activity in the eeg]
http://purl.obolibrary.org/obo/HP_0000007: [autosomal-rezessiv, autosomaal recessief, autosomique récessive, autosómica recesiva,
autosomal recessive]
http://purl.obolibrary.org/obo/HP_0002652: [abnormal skeletal development, skeletal dysplasia]
http://purl.obolibrary.org/obo/HP_0006152: ['symphalangism, cushing type', 'symphalangismus, proximaler', cushing-symphalangie,
proximaal symfalangisme, 'symfalangisme, cushing-type', 'symphalangism, proximal,
type 1a', cushing's symphalangism, symphalangie proximale, symphalangie type cushing,
sinfalangismo tipo cushing, sinfalangismo familiar proximal, 'sinfalangismo, tipo
cushing', symphalangisme type cushing, sinfalangismo familiare prossimale, sinfalangismo prossimale,
sinfalangismo proximal, symphalangisme proximal, proximal symphalangism]
http://purl.obolibrary.org/obo/HP_0002008: [facial palsy, bell's palsy, facial nerve paralysis, vii th cranial nerve palsy,
seventh cranial nerve palsy, 'facial palsy, unilateral or bilateral', cranial nerve vii palsy,
facial paralysis, facial paresis, facial muscle paralysis, paralysis of the muscles of the face,
paralysis of facial nerve, 'nerve paralysis, facial', palsy of facial nerve, bell palsy,
bell's (facial) palsy, facial droop, facial nerve paresis, 顔面神経麻ひ, 顔面麻痺, facioplegia,
顔面神経麻痺, facial nerve palsy]
http://purl.obolibrary.org/obo/HP_0001662: [pulse rate decrease, bradyarrhythmia, 徐脈, slow heart beat, heart rate slow,
decreased heart rate, 'heart rate, decreased', brachycardia, slow heartbeats, bradyrhythmia,
reduced heart rate, infrequent pulse, 徐拍, 徐脈性不整脈, bradycardia]
http://purl.obolibrary.org/obo/HP_0002615: ['blood pressure, low', low blood pressure, vascular hypotensive disorder,
'pressure, low blood', decreased blood pressure, 'blood pressure, decreased', arterial blood pressure decreased,
blood pressure drop arterial, pressure arterial decreased, 低血圧, chute de tension arterielle,
symptome de choc, diminution tension arterielle, baisse de la tension arterielle,
decreased systemic arterial blood pressure, reduced blood pressure, chute de la pression artérielle,
pression artérielle diminuée, pa abaissée, pa basse, blood pressure decreased, chute de pa,
hypotensive diseases, pression artérielle basse, baisse de la pression artérielle,
low bp, hypopiesis, fall in blood pressure, drop of blood pressure, pression artérielle sanguine diminuée,
chute de pression artérielle, bp fell, ta basse, tension basse, tension artérielle basse,
血圧下降, hypotonia, 血圧降下, 低血圧症, hypotony, hypotensive, blood pressure low, hypotension]
http://purl.obolibrary.org/obo/HP_0001269: [congenital hemiparesis]
http://purl.obolibrary.org/obo/HP_0005290: [absent internal carotid artery]
http://purl.obolibrary.org/obo/HP_0008419: [premature vertebral end-plate disease]
http://purl.obolibrary.org/obo/HP_0003304: [脊椎分離症, spondylolysis]
http://purl.obolibrary.org/obo/HP_0003302: [spondylolithesis, slipped backbone, displacement of one backbone compared to another,
すべり症, 脊椎すべり症, spondylolisthesis]
http://purl.obolibrary.org/obo/HP_0009121: [axial skeletal involvement]
http://purl.obolibrary.org/obo/HP_0000370: ['defects of the outer, middle and inner ear']
http://purl.obolibrary.org/obo/HP_0007925: [narrowing of the tear duct, delayed canalization of nasolacrimal duct,
lacrimal duct stenosis]
http://purl.obolibrary.org/obo/HP_0012759: [neuro-developmental disorder]
http://purl.obolibrary.org/obo/HP_0001270: [motor dysfunction]
http://purl.obolibrary.org/obo/HP_0001328: [learning deficit]
http://purl.obolibrary.org/obo/HP_0002275: [loss of motor coordination]
http://purl.obolibrary.org/obo/HP_0002360: [sommeil troublé, désordre du comportement du sommeil, dérèglement du sommeil,
problems with sleeping, sleep disturbed, trouble du comportement du sommeil, 'sleep
disturbance,if', disturbance in sleep behavior, sleep disturbance, troubles du sommeil (incl sous-types),
difficulty sleeping, sleep dysfunction, phenotypic abnormality of sleep, trouble sleeping,
sleep disturbances]
http://purl.obolibrary.org/obo/HP_0009593: [schwannomas in the skin]
http://purl.obolibrary.org/obo/HP_0001344: [absence of vocalization]
http://purl.obolibrary.org/obo/HP_0002015: [swallowing disorders]
http://purl.obolibrary.org/obo/HP_0000925: [spine and rib anomalies]
http://purl.obolibrary.org/obo/HP_0000280: [face grosseira, rasgos faciales toscos, grobe gesichtzüge, faccia grossolana,
face grossière, coarse face]
http://purl.obolibrary.org/obo/HP_0004482: ['macrocephaly, relative', relatively large head, disproportionately large head,
relative macrocephaly]
http://purl.obolibrary.org/obo/HP_0002007: [prominent central forehead, frontal protruberance, skull bossing, prominent forehead,
pronounced forehead, prominence of frontal region, protruding forehead, cranial bossing,
frontal protuberance, prominence of the frontal region, protuberant forehead, frontal bossing]
http://purl.obolibrary.org/obo/HP_0000766: [pectus deformity]
http://purl.obolibrary.org/obo/HP_0000912: [high scapula, escápula alta, schulterblatthochstand, sobreelevación del omóplato,
surélévation de l'omoplate, sprengel-phänotyp, sopraelevazione della scapola, anomalie de sprengel,
anomalía de sprengel, anomalia di sprengel, deformidade de sprengel, sprengel-deformität,
sprengelmisvorming, hoog schouderblad, 'congenital, upward displacement of the scapula',
high schoulder blade, congenital elevation of scapula, sprengel anomaly, high shoulder blade,
sprengel deformity]
http://purl.obolibrary.org/obo/HP_0005449: [bridged sella]
http://purl.obolibrary.org/obo/HP_0002937: [hemivertebra, congenital hemivertebra, hemi-vertebrae, missing part of vertebrae,
hemivertebrae]
http://purl.obolibrary.org/obo/HP_0002948: [fusion of the vertebral bodies]
http://purl.obolibrary.org/obo/HP_0000891: [cervical rib, cervical ribs]
http://purl.obolibrary.org/obo/HP_0003298: [closed spinal bifida, hidden spina bifida, cryptomerorrhachischis, occult spina bifida,
cryptomérorachischisis, 潜在性二分脊椎, spina bifida occulta]
http://purl.obolibrary.org/obo/HP_0100007: [peripheral nerve tumors]
http://purl.obolibrary.org/obo/HP_0100274: [gustatory lacrimation]
http://purl.obolibrary.org/obo/HP_0003664: [mild condition much later in life]
http://purl.obolibrary.org/obo/HP_0004149: [juvenile lethality]
http://purl.obolibrary.org/obo/HP_0001319: [hypotonia of infancy]
http://purl.obolibrary.org/obo/HP_0009733: [gliomas]
http://purl.obolibrary.org/obo/HP_0011342: [mild to moderate global developmental delay]
http://purl.obolibrary.org/obo/HP_0011343: [moderate global developmental delay]
http://purl.obolibrary.org/obo/HP_0000403: [frequent ear infections]
http://purl.obolibrary.org/obo/HP_0000490: [deep-set eyes]
http://purl.obolibrary.org/obo/HP_0008619: [bilateral sensorineural hearing loss]
http://purl.obolibrary.org/obo/HP_0000073: [duplication of the ureters]
http://purl.obolibrary.org/obo/HP_0005580: [bifid renal pelvices]
http://purl.obolibrary.org/obo/HP_0003830: [reduced penetrance]
http://purl.obolibrary.org/obo/HP_0001372: [joint contractures]
http://purl.obolibrary.org/obo/HP_0001390: [congenital arthromyodysplasias, arthrogryposes, 'syndrome, guerin-stern',
guerin stern syndrome, 'arthromyodysplasia, congenital', guerin-stern syndrome,
congen arthromyodysplasia, arthromyodysplasia congen, amyoplasia congenita, myodystrophia fetalis deformans,
amyoplasia congen, 'arthromyodysplasias, congenital', congenital arthromyodysplasia,
'arthrogryposes, congenital multiple', congenital multiple arthrogryposes, artrogriposis,
artrogripose, arthrogrypose, artrogriposi, 関節拘縮, arthrogryposis]
http://purl.obolibrary.org/obo/HP_0001188: [tightly clenched fists]
http://purl.obolibrary.org/obo/HP_0001193: [ulnar deviation]
http://purl.obolibrary.org/obo/HP_0010563: [flexion deformity of one or more digits, flexed digits, flexed toes,
flexed fingers, permanent flexion of the finger or toe, camptodactyly]
http://purl.obolibrary.org/obo/HP_0005656: [positional foot deformities]
http://purl.obolibrary.org/obo/HP_0001371: [contractures]
http://purl.obolibrary.org/obo/HP_0002012: [visceral anomalies]
http://purl.obolibrary.org/obo/HP_0000171: [hypoglossia, hypoplastic tongue, rudimentary tongue, hypoplasia of the tongue,
underdevelopment of the tongue, microglossia, lingual hypoplasia, decreased size of tongue,
decreased tongue size, reduced tongue size, tongue hypoplasia, small tongue]
http://purl.obolibrary.org/obo/HP_0000211: [risus sardonicus, spasm temporomandibular, lockjaw, lock jaw, 開口障害, limited mandibular mobility,
decrease in mandibular opening, limited jaw movement, limited mouth opening, decrease in mandibular movement,
decrease in jaw mobility, decrease in mandibular mobility, decrease in jaw movement,
decrease in jaw opening, limited jaw opening, pain of muscles of mastication, limited jaw mobility,
limited mandibular opening, spasmus masticatorius, masticatory spasm, trismus]
http://purl.obolibrary.org/obo/HP_0000508: [zeldzame stoornis met ptose, 'droopiness ', ptose de la paupiere, drooping upper eyelid,
drooping eyelids, drooping eye lids, drooping eyelid, ptose, ptosi, 眼瞼下垂症, 眼瞼下垂,
ptosis]
http://purl.obolibrary.org/obo/HP_0000286: [epicanthal folds]
http://purl.obolibrary.org/obo/HP_0000563: [conical cornea, ktcn, cone-shaped profusion of cornea, bulging cornea,
円錐角膜, keratoconus]
http://purl.obolibrary.org/obo/HP_0001155: [unique hand position]
http://purl.obolibrary.org/obo/HP_0001166: [long fingers, achromachia, spider fingers, long slender fingers, 'long,
slender fingers', spider slender fingers, くも指症, spider deformity, spider finger,
arachnodactylia, arachnodactyly]
http://purl.obolibrary.org/obo/HP_0006540: [congenital lung cyst]
http://purl.obolibrary.org/obo/HP_0005948: [lung cyst]
http://purl.obolibrary.org/obo/HP_0008680: [severe renal dysgenesis]
http://purl.obolibrary.org/obo/HP_0002009: [potter's facies, potter facies]
http://purl.obolibrary.org/obo/HP_0001432: [died soon after birth]
http://purl.obolibrary.org/obo/HP_0002107: [collapsed lung, atelectasis, pulmonary atelectasis, pulmonary collapse,
aerothorax, 気胸症, 気胸, pneumothorax]
http://purl.obolibrary.org/obo/HP_0002088: [immature development of the lungs]
http://purl.obolibrary.org/obo/HP_0001257: [spastic, hypertonia, increased muscle tone, hypertonicity, 'involuntary
muscle stiffness, contraction, or spasm', muscle hypertonia, muscle hypertonicity,
muscle hypertonus, 痙直, 痙縮, spasticity]
http://purl.obolibrary.org/obo/HP_0100021: [spastic diplegia, cerebral spastic infantile paralysis, little's disease,
cerebral paralysis, cp, imoc (infirmité motrice d'origine cérébrale), infirmité motrice cérébrale,
cerebral palsied, syndrome de little, infirmité motrice d'origine cérébrale, imc (infirmité motrice cérébrale),
paralysie cérébrale, paralisia cerebral, 脳性麻ひ, palsy cerebral, 脳性麻痺, cp, 脳性まひ, cerebral palsy]
http://purl.obolibrary.org/obo/HP_0002059: [degeneration of cerebrum, cortical atrophy, supratentorial atrophy, brain atrophy,
atrophie corticale, atrophie cérébrale, 大脳萎縮, encephalatrophy, 脳萎縮, 脳委縮症, 脳の萎縮,
cerebral atrophy]
http://purl.obolibrary.org/obo/HP_0000374: [sensorineural deafness]
http://purl.obolibrary.org/obo/HP_0000143: [recto-vaginal fistula, abnormal connection between rectum and vagina,
rectovaginal fistula]
http://purl.obolibrary.org/obo/HP_0009778: [hypoplastic thumb]
http://purl.obolibrary.org/obo/HP_0001144: [orbital haemangiomatous cysts]
http://purl.obolibrary.org/obo/HP_0001442: [germline mosaicism]
http://purl.obolibrary.org/obo/HP_0000159: ['involvement of the palate, gums, and lips']
http://purl.obolibrary.org/obo/HP_0000174: [involvement of the palate]
http://purl.obolibrary.org/obo/HP_0002814: [involvement of the lower limbs]
http://purl.obolibrary.org/obo/HP_0100010: [spinal meningiomas]
http://purl.obolibrary.org/obo/HP_0005819: [shortening or missing of the middle phalanges]
http://purl.obolibrary.org/obo/HP_0000086: [異所性腎, ectopia renis, 変位じん, renal ectopy, ectopic kidney, renal ectopia]
http://purl.obolibrary.org/obo/HP_0100020: [posterior capsular cataract]
http://purl.obolibrary.org/obo/HP_0009831: [axonal mononeuropathy multiplex]
http://purl.obolibrary.org/obo/HP_0000764: [degeneration of axons]
http://purl.obolibrary.org/obo/HP_0003660: [prenatally diagnosed cases]
http://purl.obolibrary.org/obo/HP_0002828: [multiple joint contractures]
http://purl.obolibrary.org/obo/HP_0004721: [renal adysplasia]
http://purl.obolibrary.org/obo/HP_0007170: [echolalia, defect speech (nos), dysphasia, disorder speech, stammering,
speech loss, repetitive speech, stuttering, tongue tie, slurred speech, speech impediment or impairment,
speech impediment, speech impairment, neurological speech impairment, speech disorder]
http://purl.obolibrary.org/obo/HP_0000733: [stereotyped jerky movements]
http://purl.obolibrary.org/obo/HP_0000715: [behavioral profile]
http://purl.obolibrary.org/obo/HP_0007270: [atypical absences]
http://purl.obolibrary.org/obo/HP_0002069: [grand mal seizures, tonic-clonic convulsion, generalized clonic-tonic seizures,
'seizures, tonic-clonic', tonic-clonic convulsions, generalized tonic clonic seizures,
'seizures, generalized tonic-clonic', 'seizures, generalized, tonic-clonic', crises épileptiques tonico-cloniques,
強直性間代性痙攣発作, 強直間代痙攣, tonic-clonic seizures]
http://purl.obolibrary.org/obo/HP_0001945: [febrile reaction, reaction febrile, hyperthermia, heat production increased,
temperature elevation, hyperpyrexia, pyrexia, fièvre, febrile response, 熱, febrile,
hyperthermie, état fébrile, fébrile, rise in body temperature, 熱性症状, 発熱状態, febrile symptom,
熱症状, febrile state, 発熱, elevation of body temperature, 発熱症状, 体温上昇, fever]
http://purl.obolibrary.org/obo/HP_0008657: [ovarian calcification]
http://purl.obolibrary.org/obo/HP_0010617: [fibroma of heart, cardiac fibrous hamartoma, heart fibroelastic hamartoma,
heart fibroma, heart fibrous hamartoma, cardiac fibroelastic hamartoma, fibroelastic hamartoma of heart,
fibroelastic hamartoma of the heart, cardiac fibroma]
http://purl.obolibrary.org/obo/HP_0000394: [lop-ear deformity]
http://purl.obolibrary.org/obo/HP_0100272: [branchial cleft sinus tracts]
http://purl.obolibrary.org/obo/HP_0000242: [biparietal bossing]
http://purl.obolibrary.org/obo/HP_0000494: [antimongoloid slanted palpebral fissures, antimongoloid eye slant, downward-slanting palpebral fissures,
downslanting palpebral fissures, down-slanted palpebral fissures, antimongoloid slant of palpebral fissures,
palpebral fissures down-slanted, down-slanting palpebral fissure, downward slanted palpebral fissures,
down slanting palpebral fissures, down-slanting palpebral fissures, downslanting palpebral fissure,
downward slanting of the opening between the eyelids, downslanted palpebral fissures,
downward slanting palpebral fissures]
http://purl.obolibrary.org/obo/HP_0000767: [funnel chest, pectus excavatus, cobbler's chest, sunken chest, thorax en entonnoir congénital,
pectus excavatum]
http://purl.obolibrary.org/obo/HP_0006446: [patellar dysplasia]
http://purl.obolibrary.org/obo/HP_0000889: [abnormal clavicular shape]
http://purl.obolibrary.org/obo/HP_0010034: [shortness principally affecting the second and fifth phalanges and first metacarpal]
http://purl.obolibrary.org/obo/HP_0003067: [bilateral madelung deformity]
http://purl.obolibrary.org/obo/HP_0009590: [unilateral vestibular schwannoma]
http://purl.obolibrary.org/obo/HP_0002258: [microbrachycephaly]
http://purl.obolibrary.org/obo/HP_0009911: [temporal bone findings]
http://purl.obolibrary.org/obo/HP_0008586: [cochlear hypoplasia]
http://purl.obolibrary.org/obo/HP_0004458: [bulbous internal auditory canals]
http://purl.obolibrary.org/obo/HP_0001627: [cardiac anomalies]
http://purl.obolibrary.org/obo/HP_0001660: [tac, common arterial trunk, common aorticopulmonary trunk, tronco arterioso,
tronco aórtico-pulmonar común, tronco arterial común, tronc artériel commun, gemeenschappelijke aortico-pulmonale stam,
gemeenschappelijke arteriële stam, common aortico-pulmonary trunk, malformação do tronco arterial,
tronco arterioso comune, persistent truncus arteriosis, single outflow tract, pta,
truncus arteriosis, 総動脈幹, truncus arteriosus]
http://purl.obolibrary.org/obo/HP_0005134: [pulmonary atresia, absent pulmonary artery, absent lung artery, missing pulmonary artery,
pulmonary artery atresia, congenital atresia of the pulmonary valve, pulmonary valve atresia]
http://purl.obolibrary.org/obo/HP_0004305: [flexor spasms]
http://purl.obolibrary.org/obo/HP_0011097: [salaam seizures, salaam convulsions, epileptic spasms]
http://purl.obolibrary.org/obo/HP_0010819: [crises épileptiques atoniques, astatic seizures, drop seizures, drop attacks,
hypotonic seizures, atonic seizures]
http://purl.obolibrary.org/obo/HP_0002391: ['spasms, infantile', infantile spasm, 乳児痙攣, infantile convulsion, infantile spasms]
http://purl.obolibrary.org/obo/HP_0001255: [精神運動制止, psychomotor impairment, motormental retardation, psychomotor slowing,
pschomotor retardation, psychomotor retardation]
http://purl.obolibrary.org/obo/HP_0002283: [diffuse atrophy of the brain]
http://purl.obolibrary.org/obo/HP_0002070: [ataxic or hypermotoric limb movements]
http://purl.obolibrary.org/obo/HP_0000256: [large head]
http://purl.obolibrary.org/obo/HP_0000284: [ocular abnormalities]
http://purl.obolibrary.org/obo/HP_0002808: [cyphose, round back, gibbus deformity, hunched back, hunchback, humpback,
後弯変形, cyrtosis, 後弯, 脊柱後弯症, backward curvature, 後彎変形, 後彎, 脊柱後彎, 後わん, 脊柱後弯, kyphotic deformity,
円背, kyphosis]
http://purl.obolibrary.org/obo/HP_0002540: [never walked]
http://purl.obolibrary.org/obo/HP_0001759: [ossicular anomalies]
http://purl.obolibrary.org/obo/HP_0000568: [microphthalmos, nanophthalmia, nanophthalmos, simple microphthalmos,
decreased eye size, small eyes, microphthalamos, abnormally small eyeball, decreased size of globe of eye,
abnormally small globe of eye, decreased size of eyeball, eye decreased size, microphthalmus,
microphthalmia]
http://purl.obolibrary.org/obo/HP_0004348: [abnormal calcifications]
http://purl.obolibrary.org/obo/HP_0011462: [adolescent, heranwachsend, adolescentie, adolescente, youth, teen-age,
jeunesse, teenage, adolescence]
http://purl.obolibrary.org/obo/HP_0004308: [arrhythmia ventricular (nos), arrhythmia ventricular, ventricular dysrhythmia,
trouble du rythme ventriculaire, arythmie ventriculaire, ventricular arrhythmia]
http://purl.obolibrary.org/obo/HP_0008606: [bilateral supra-auricular sinuses]
http://purl.obolibrary.org/obo/HP_0000577: [divergent strabismus, divergent concomitant strabismus, outward facing eye ball,
外斜視, external squint, excyclotropia, divergent squint, exodeviation, exotropia]
http://purl.obolibrary.org/obo/HP_0006477: [cystic mass in the left posterior alveolar ridge]
http://purl.obolibrary.org/obo/HP_0009921: [duane retraction syndrome, duane's syndrome, durs, drs, duane syndrome]
http://purl.obolibrary.org/obo/HP_0006106: [trapeze aplasia]
http://purl.obolibrary.org/obo/HP_0001367: ['articular, and auditory manifestations']
http://purl.obolibrary.org/obo/HP_0000545: [short-sightedness, near-sightedness, near vision, close sighted, near sightedness,
near sighted, nearsightedness, nearsightednesses, short sight, near sight, shortsightedness,
myopic, nearsighted, short-sight, 近視眼, 近眼, 近視, near-sight, myopia]
http://purl.obolibrary.org/obo/HP_0007773: [vitreous anomaly]
http://purl.obolibrary.org/obo/HP_0000272: [flat facies, flat facial shape, flat facial profile, flattened face,
flat face]
http://purl.obolibrary.org/obo/HP_0100568: [endocrine neoplasia]
http://purl.obolibrary.org/obo/HP_0011355: [skin lesions]
http://purl.obolibrary.org/obo/HP_0009720: [facial angiofibromas]
http://purl.obolibrary.org/obo/HP_0010615: [angiofibroma, angiofibromas]
http://purl.obolibrary.org/obo/HP_0001012: [lipomas]
http://purl.obolibrary.org/obo/HP_0007449: [hypopigmented macule, confetti-like hypopigmented macules]
http://purl.obolibrary.org/obo/HP_0000168: [gingival papules]
http://purl.obolibrary.org/obo/HP_0000843: [elevated blood parathyroid hormone level, increased activity of parathyroid,
hpt, hyperparathyreosis, 上皮小体機能亢進症, parathyroid hyperfunction, 上皮小体亢進, 副甲状腺機能亢進症,
hyperparathyreoidismus, 上皮小体亢進症, hyperparathyroidism]
http://purl.obolibrary.org/obo/HP_0100258: [preaxial polydatyly]
http://purl.obolibrary.org/obo/HP_0002211: [poliosis of anterior hair, poliosis of forelock hair, white part of hair above forehead,
white forelock]
http://purl.obolibrary.org/obo/HP_0001107: [oca, oculocutaan albinisme, 'albinismus, okulokutaner', albinisme oculo-cutané,
aoc, albinismo oculo-cutáneo, oculocutaneous albinism]
http://purl.obolibrary.org/obo/HP_0007106: [severe to profound global developmental delay]
http://purl.obolibrary.org/obo/HP_0005484: [postnatal-onset microcephaly]
http://purl.obolibrary.org/obo/HP_0001347: [increased deep tendon reflexes, increased reflexes, hrx, hyperreflexia]
http://purl.obolibrary.org/obo/HP_0002487: [hyperkinesia, muscle spasms, muscle spasm, excessive movement, overactive,
motor activity exaggerated, increased activity, hyperactivity, behaviour hyperactive,
overactivity, behavior hyperactive, activity motor exaggerated, 多動, hyperactive,
hyperkinesis]
http://purl.obolibrary.org/obo/HP_0007757: [choroidal pigment hypoplasia]
http://purl.obolibrary.org/obo/HP_0009372: [brachydactyly type a2 (bda2)]
http://purl.obolibrary.org/obo/HP_0001562: [low levels of amniotic fluid, oligoamnios, hypamnion, oligamnios, hypamnios,
reduced amniotic fluid, oligohydramnion, oligoamnion, 羊水過少症, oligohydramnios]
http://purl.obolibrary.org/obo/HP_0008678: [nierenhypoplasie, renale hypoplasie, hypoplasie rénale, hipoplasia renal,
hypoplastic kidney, kidney hypoplasia, hypoplastic kidneys, underdeveloped kidneys,
small kidneys, ipoplasia renale, 腎低形成, renal hypoplasia]
http://purl.obolibrary.org/obo/HP_0003811: [died neonatally]
http://purl.obolibrary.org/obo/HP_0002089: [lung hypoplasia, hypoplastic lung, hypoplastic lungs, small lung, underdeveloped lung,
decreased lung size, 肺形成不全, 形成不全肺, hypoplasia of lung, aplasia of lung, pulmonary hypoplasia]
http://purl.obolibrary.org/obo/HP_0000375: ['immaturity of the middle ear cleft, ossicles, facial nerve and canal,
and cochlear nerve']
http://purl.obolibrary.org/obo/HP_0000717: [autistic disorder of childhood onset, kanner's syndrome, 'disorder, autistic',
autistic disorder of childhood onset (disorder), infantile psychosis (disorder),
kanners syndrome, 'syndrome, kanner''s', autistic disorder, 'disorders, autistic',
kanner syndrome, asd, auts1, 自閉, 自閉性障害, 自閉症, autism]
http://purl.obolibrary.org/obo/HP_0001056: [milie]
http://purl.obolibrary.org/obo/HP_0000277: [bilateral mandibular coronoid processes hyperplasia]
http://purl.obolibrary.org/obo/HP_0001841: [radial-side polydactyly, 'polydactyly, preaxial', preaxial polydactyly]
http://purl.obolibrary.org/obo/HP_0001199: [triphalangeal thumbs]
http://purl.obolibrary.org/obo/HP_0000241: [poor postnatal head growth]
http://purl.obolibrary.org/obo/HP_0008872: [neonatal feeding difficulties]
http://purl.obolibrary.org/obo/HP_0002022: [feeding problems, poor feeding, feeding poor, feeding difficulties]
http://purl.obolibrary.org/obo/HP_0002463: [absent language]
http://purl.obolibrary.org/obo/HP_0100279: [colitis ulcerative, ulcerative calcitis, colitis ulcerative aggravated,
autoimmune inflammatory bowel disease, ulceratve colitis unspcf, 'colitis, ulcerative',
left-sided ulcerative (chronic) colitis, uc, 潰瘍性大腸炎, colitis ulcerosa, ulcerative colitis]
http://purl.obolibrary.org/obo/HP_0002255: [blood stools]
http://purl.obolibrary.org/obo/HP_0004295: [edematous and spotty bleeding mucosa]
http://purl.obolibrary.org/obo/HP_0000729: [pervasive developmental delay]
http://purl.obolibrary.org/obo/HP_0001256: [mild and nonprogressive mental retardation, 'mental retardation, borderline-mild',
'intellectual disability, mild', moronity, 軽度精神遅滞, mild mental retardation]
http://purl.obolibrary.org/obo/HP_0006461: [coxa-epiphysiolysis]
http://purl.obolibrary.org/obo/HP_0009370: ['type a brachydactylia,']
http://purl.obolibrary.org/obo/HP_0003590: [appears during adolescence]
http://purl.obolibrary.org/obo/HP_0200040: [horn cyst, follicular infundibular cyst, inclusion cyst, squamous cyst,
epidermal cyst, epidermoid cyst, keratinous cyst, epithelial cyst, keratinizing cyst,
infundibular cyst, epidermal inclusion cyst, keratin cyst, epidermoid cysts]
http://purl.obolibrary.org/obo/HP_0010605: [chalazia]
http://purl.obolibrary.org/obo/HP_0000137: [fibrosarcoma of ovary, fibrosarcoma of the ovary, ovarian fibrosarcoma]
http://purl.obolibrary.org/obo/HP_0100244: [fibrous tissue neoplasm, fibrocytic tumor, malignant fibromatous neoplasm,
fibrosarkom, fibrosarcoom, fibrosarcome, 纤维肉瘤, 纤维瘤, 纤维组织肿瘤, 软组织纤维肉瘤, increased fibroblastic sarcoma incidence,
fibrossarcoma, 繊維肉腫, 線維肉腫, fibrosarcoma]
http://purl.obolibrary.org/obo/HP_0009730: [myoma striocellulare, 横紋筋腫, rhabdomyoma]
http://purl.obolibrary.org/obo/HP_0001288: [gait rigid, gait abnormal, gait broadened, walking difficulty, festinating gait,
dysbasia, gait festinating, gait tripping, disorder gait, gait stumbling, gait disturbance,
gait unsteady, stumbling, staggering, gait shuffling, gait disorder, peculiar gait,
abnormal ambulation, gait abnormalities, gait difficulties, gait disturbances, abnormal walk,
impaired gait, abnormal gait]
http://purl.obolibrary.org/obo/HP_0000525: [iris pigment epithelial cyst]
http://purl.obolibrary.org/obo/HP_0008051: [retina pigment epithelium]
http://purl.obolibrary.org/obo/HP_0000521: [lacrimal sac fistula]
http://purl.obolibrary.org/obo/HP_0009465: [ulnar deviation of fingers]
http://purl.obolibrary.org/obo/HP_0006096: [contractures of both hands]
http://purl.obolibrary.org/obo/HP_0001776: [bilateral clubfeet]
http://purl.obolibrary.org/obo/HP_0001216: [delayed carpal ossification]
http://purl.obolibrary.org/obo/HP_0003079: [radiosensitive response]
http://purl.obolibrary.org/obo/HP_0010766: [ectopic calcinosis, heterotopic calcification, 異所性石灰化, ectopic calcification]
http://purl.obolibrary.org/obo/HP_0001545: [anteriorly displaced anus, anus anteposition, anteriorly placed anus]
http://purl.obolibrary.org/obo/HP_0000413: [atretic ear canals]
http://purl.obolibrary.org/obo/HP_0000347: [mandibular hypoplasia]
http://purl.obolibrary.org/obo/HP_0011380: [anomalies of the semicircular canals]
http://purl.obolibrary.org/obo/HP_0011453: [anomalies of the semicircular canals and the incus]
http://purl.obolibrary.org/obo/HP_0005473: [inculomalleolar fusion]
http://purl.obolibrary.org/obo/HP_0002574: [episodes of abdominal pain]
http://purl.obolibrary.org/obo/HP_0000969: [lumbar cushion, swelling non-inflammatory, tissue puffing, swelling,
inflammatory swelling, body water excess, hydrothorax, hydrops, dropsy, hydropericardium,
anasarca, 浮腫, fluid retention, water retention, problème d'oedème, pb d'oedème,
oedeme, oedème, むくみ, 水腫, edema]
http://purl.obolibrary.org/obo/HP_0009944: [bifid right thumb]
http://purl.obolibrary.org/obo/HP_0010511: [large toes]
http://purl.obolibrary.org/obo/HP_0000369: [melotia, lowset ears, low-set ears, lowered ear position, protruding ears,
耳介低位, low set ears]
http://purl.obolibrary.org/obo/HP_0000308: [retromicrognathia, small retruded chin, microretrognathia]
http://purl.obolibrary.org/obo/HP_0000177: [abnormality of upper lip, abnormal upper lip]
http://purl.obolibrary.org/obo/HP_0000366: [malformed nose]
http://purl.obolibrary.org/obo/HP_0000431: [broad bridge]
http://purl.obolibrary.org/obo/HP_0000437: [flattened tip]
http://purl.obolibrary.org/obo/HP_0004464: [linear skin lesions behind the ears]
http://purl.obolibrary.org/obo/HP_0001417: [x-linked, x-linked inheritance]
http://purl.obolibrary.org/obo/HP_0000589: [coloboinowlma of eye, coloboinowlma of macula, congenital ocular coloboinowlma,
notched pupil, 眼欠損症, coloboma]
http://purl.obolibrary.org/obo/HP_0000156: [highly arched plate]
http://purl.obolibrary.org/obo/HP_0000164: [dental anomalies]
http://purl.obolibrary.org/obo/HP_0001965: [cysts of the scalp]
http://purl.obolibrary.org/obo/HP_0001272: [unilateral cerebellar atrophy]
http://purl.obolibrary.org/obo/HP_0100011: [intrascleral schwannoma]
http://purl.obolibrary.org/obo/HP_0000081: [malformations of the kidney or collecting system including duplication]
http://purl.obolibrary.org/obo/HP_0001595: [ectodermal (dental and hair) anomalies]
http://purl.obolibrary.org/obo/HP_0003246: [prominent perineal raphe]
http://purl.obolibrary.org/obo/HP_0004792: [recto-perineal fistula, recto-peritoneal fistula, rectoperitoneal fistula,
rectoperineal fistula]
http://purl.obolibrary.org/obo/HP_0001157: [curvature of digit, permanent curving of the finger, bent digits, 弯曲指症,
clinodactylia, streblodactylia, streblodactyly, clinodactyly]
http://purl.obolibrary.org/obo/HP_0000079: [urorenal anomalies]
http://purl.obolibrary.org/obo/HP_0002034: [anorectal malformations]
http://purl.obolibrary.org/obo/HP_0003416: [narrow spinal canal, spinal canal stenosis, spinal stenosis]
http://purl.obolibrary.org/obo/HP_0003815: [marked variability in the severity and nature of manifestations]
http://purl.obolibrary.org/obo/HP_0001171: [lobster claw hand, cleft hand, split-hand/foot malformation, fewer digits,
split hand-foot malformation, split-hand deformity, shfm, split hand foot malformation,
lobster-claw deformity, ectrodactyly]
http://purl.obolibrary.org/obo/HP_0005912: [atresia of bile duct, atresia of bile ducts, isolated atresia of bile ducts,
malformation biliary, atresia biliary, bile ducts absence of (congenital), gallengangatresie,
'gallengangatresie, nicht-syndromale', atresie der gallengänge, atrésie des voies biliaires isolée,
atresia biliar, atresia biliar no sindrómica, atresia de vías biliares, galatresie,
galgangatresie, niet-syndromale biliaire atresie, biliary duct atresia, 胆道閉鎖症, 胆道閉鎖,
biliary obstruction, biliary atresia]
http://purl.obolibrary.org/obo/HP_0007352: [calcification of the falx cerebri and tentorium cerebelli]
http://purl.obolibrary.org/obo/HP_0006996: [dysgenesis of the corpus callosum]
http://purl.obolibrary.org/obo/HP_0002195: [dysgenesis of the corpus callosum and vermis]