Human Phenotype Ontology 
Grandparent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
..Starting node
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Telecanthus (HP:0000506)help
Term ID: 506
Name: Telecanthus
Synonym: Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance
Definition: Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Comments:
Reference: HP:0000506
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal levator palpebrae superioris morphology (HP:3000072) help
..expandAbnormality of the palpebral fissures (HP:0008050) help
..expandAccessory eyelid (HP:0430008) help
..expandAnkyloblepharon (HP:0009755) help
..expandAplasia/Hypoplasia of the eyelid (HP:0011226) help
..expandBlepharitis (HP:0000498) help
..expandBlepharospasm (HP:0000643) help
..expandDermatochalasis (HP:0010750) help
..expandEctropion (HP:0000656) help
..expandEntropion (HP:0000621) help
..expandEpiblepharon (HP:0011225) help
..expandEpicanthus (HP:0000286) help
..expandErythema of the eyelids (HP:0040323) help
..expandEuryblepharon (HP:0012905) help
..expandEyelid apraxia (HP:0000658) help
..expandEyelid retraction (HP:0500043) help
..expandHeliotrope rash of eyelid (HP:0030845) help
..expandHooded eyelid (HP:0030820) help
..expandHyperpigmentation of eyelids (HP:0007406) help
..expandLagopthalmos (HP:0030001) help
..expandLipomas of eyelids (HP:0040164) help
..expandMicroblepharia (HP:0430010) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandPalpebral edema (HP:0100540) help
..expandPalpebral thickening (HP:0030939) help
..expandSymblepharon (HP:0430007) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000506HP:0000506Telecanthus0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000506HP:0000506Telecanthus0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000506HP:0000506Telecanthus0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000506HP:0000506Telecanthus0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000506HP:0000506Telecanthus0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM126725151615302
HP:0000506HP:0000506Telecanthus0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0000506HP:0000506Telecanthus0ALX4 CL E G H60529228390ORPHA127221450605420
HP:0000506HP:0000506Telecanthus0ANKH CL E G H561721522ORPHA12233915492605145
HP:0000506HP:0000506Telecanthus0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0000506HP:0000506Telecanthus0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0000506HP:0000506Telecanthus0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000506HP:0000506Telecanthus0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1333694604695
HP:0000506HP:0000506Telecanthus0ARVCF CL E G H421567ORPHA12477728602269
HP:0000506HP:0000506Telecanthus0ATRX CL E G H546847ORPHA1170663886300032
HP:0000506HP:0000506Telecanthus0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0000506HP:0000506Telecanthus0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0000506HP:0000506Telecanthus0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0000506HP:0000506Telecanthus0CCND2 CL E G H89483473ORPHA111851583123833
HP:0000506HP:0000506Telecanthus0CCNQ CL E G H92002140952ORPHA11122828434300708
HP:0000506HP:0000506Telecanthus0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000506HP:0000506Telecanthus0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000506HP:0000506Telecanthus0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000506HP:0000506Telecanthus0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA164516472201120180
HP:0000506HP:0000506Telecanthus0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA115916302209120215
HP:0000506HP:0000506Telecanthus0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000506HP:0000506Telecanthus0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000506HP:0000506Telecanthus0COMT CL E G H1312567ORPHA1155552228116790
HP:0000506HP:0000506Telecanthus0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0000506HP:0000506Telecanthus0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0000506HP:0000506Telecanthus0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000506HP:0000506Telecanthus0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000506HP:0000506Telecanthus0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1311521144605942
HP:0000506HP:0000506Telecanthus0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000506HP:0000506Telecanthus0EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0000506HP:0000506Telecanthus0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000506HP:0000506Telecanthus0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000506HP:0000506Telecanthus0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000506HP:0000506Telecanthus0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000506HP:0000506Telecanthus0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000506HP:0000506Telecanthus0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0000506HP:0000506Telecanthus0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653883688136350
HP:0000506HP:0000506Telecanthus0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0000506HP:0000506Telecanthus0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
HP:0000506HP:0000506Telecanthus0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0000506HP:0000506Telecanthus0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H26971522ORPHA11091414274121014
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000506HP:0000506Telecanthus0GLI3 CL E G H2737380ORPHA12445374319165240
HP:0000506HP:0000506Telecanthus0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0000506HP:0000506Telecanthus0GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM1216825169300969
HP:0000506HP:0000506Telecanthus0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000506HP:0000506Telecanthus0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000506HP:0000506Telecanthus0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0000506HP:0000506Telecanthus0HIRA CL E G H7290567ORPHA153994916600237
HP:0000506HP:0000506Telecanthus0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM154718142220
HP:0000506HP:0000506Telecanthus0HNRNPU CL E G H3192238769ORPHA1683215048602869
HP:0000506HP:0000506Telecanthus0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342955173190020
HP:0000506HP:0000506Telecanthus0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000506HP:0000506Telecanthus0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000506HP:0000506Telecanthus0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0000506HP:0000506Telecanthus0KCTD1 CL E G H2842522036ORPHA1114918249613420
HP:0000506HP:0000506Telecanthus0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000506HP:0000506Telecanthus0KRAS CL E G H38453339ORPHA1452746407190070
HP:0000506HP:0000506Telecanthus0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452746407190070
HP:0000506HP:0000506Telecanthus0LIG4 CL E G H398199812ORPHA1403176601601837
HP:0000506HP:0000506Telecanthus0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0000506HP:0000506Telecanthus0LMNA CL E G H40001662ORPHA157411526636150330
HP:0000506HP:0000506Telecanthus0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0000506HP:0000506Telecanthus0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0000506HP:0000506Telecanthus0MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000506HP:0000506Telecanthus0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0000506HP:0000506Telecanthus0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000506HP:0000506Telecanthus0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0000506HP:0000506Telecanthus0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000506HP:0000506Telecanthus0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000506HP:0000506Telecanthus0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141817989164790
HP:0000506HP:0000506Telecanthus0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0000506HP:0000506Telecanthus0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H5077896ORPHA11531818617606597
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H5077894ORPHA11531818617606597
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0000506HP:0000506Telecanthus0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000506HP:0000506Telecanthus0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0000506HP:0000506Telecanthus0PTH1R CL E G H574550945ORPHA1451009608168468
HP:0000506HP:0000506Telecanthus0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000506HP:0000506Telecanthus0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000506HP:0000506Telecanthus0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000506HP:0000506Telecanthus0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000506HP:0000506Telecanthus0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0000506HP:0000506Telecanthus0SEC24C CL E G H9632567ORPHA12410705607185
HP:0000506HP:0000506Telecanthus0SKI CL E G H64972462ORPHA12450210896164780
HP:0000506HP:0000506Telecanthus0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000506HP:0000506Telecanthus0SNAI2 CL E G H6591608890Waardenburg syndrome type 2D608890C1837203OMIM146811094602150
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0000506HP:0000506Telecanthus0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000506HP:0000506Telecanthus0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0000506HP:0000506Telecanthus0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000506HP:0000506Telecanthus0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000506HP:0000506Telecanthus0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0000506HP:0000506Telecanthus0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000506HP:0000506Telecanthus0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0000506HP:0000506Telecanthus0TWIST2 CL E G H1175811231ORPHA198820670607556
HP:0000506HP:0000506Telecanthus0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000506HP:0000506Telecanthus0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000506HP:0000506Telecanthus0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0000506HP:0000506Telecanthus0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000506HP:0000506Telecanthus0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000506HP:0000506Telecanthus0XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0000506HP:0000506Telecanthus0ZMPSTE24 CL E G H102691662ORPHA13413612877606480
HP:0000506HP:0000506Telecanthus0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000506HP:0000506Telecanthus0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0000506HP:0000506Telecanthus0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000506HP:0000506Telecanthus0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM0416015672606941
HP:0000506HP:0000506Telecanthus0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0000506HP:0000506Telecanthus0C12orf57 CL E G H1132461777ORPHA0812529521615140
HP:0000506HP:0000506Telecanthus0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000506HP:0000506Telecanthus0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000506HP:0000506Telecanthus0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0000506HP:0000506Telecanthus0EDN3 CL E G H1908897ORPHA0211173178131242
HP:0000506HP:0000506Telecanthus0EDNRB CL E G H1910895ORPHA0701913180131244
HP:0000506HP:0000506Telecanthus0EDNRB CL E G H1910897ORPHA0701913180131244
HP:0000506HP:0000506Telecanthus0ERF CL E G H20773267ORPHA019753444611888
HP:0000506HP:0000506Telecanthus0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0000506HP:0000506Telecanthus0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM076429669614068
HP:0000506HP:0000506Telecanthus0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0000506HP:0000506Telecanthus0KITLG CL E G H4254895ORPHA015406343184745
HP:0000506HP:0000506Telecanthus0KMT2A CL E G H4297319182ORPHA01273797132159555
HP:0000506HP:0000506Telecanthus0MAFB CL E G H99352774Hydrocephalus growth retardation skeletal anomaliesORPHA0251056408608968
HP:0000506HP:0000506Telecanthus0MITF CL E G H4286895ORPHA0612407105156845
HP:0000506HP:0000506Telecanthus0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA0303117744604588
HP:0000506HP:0000506Telecanthus0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM0726025994610916
HP:0000506HP:0000506Telecanthus0OFD1 CL E G H84812750ORPHA01625102567300170
HP:0000506HP:0000506Telecanthus0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0000506HP:0000506Telecanthus0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA01041369005601542
HP:0000506HP:0000506Telecanthus0PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0000506HP:0000506Telecanthus0PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0000506HP:0000506Telecanthus0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM0482289701600473
HP:0000506HP:0000506Telecanthus0SLC26A2 CL E G H183656304ORPHA05531810994606718
HP:0000506HP:0000506Telecanthus0SMC1A CL E G H8243319182ORPHA010048411111300040
HP:0000506HP:0000506Telecanthus0SNAI2 CL E G H6591895ORPHA046811094602150
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H6663895ORPHA015119211190602229
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H6663897ORPHA015119211190602229
HP:0000506HP:0000506Telecanthus0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA04424516974611421
HP:0000506HP:0000506Telecanthus0SUFU CL E G H51684377ORPHA04753316466607035
HP:0000506HP:0000506Telecanthus0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM0255413478608047


Genes (124) :ACTB ACTG1 ADAMTS18 ADAT3 AKT3 ALG9 ALX4 ANKH ANKLE2 ANKRD11 ARL3 ARVCF ATP6V1B2 ATRX B3GALT6 B4GALT7 C12ORF57 C2CD3 CCND2 CCNQ CDH11 CDK10 CHRNG CHST14 COL3A1 COL5A1 COLEC10 COLEC11 COMT CRIPT DDHD2 DOCK7 DOK7 DSE DVL3 EDN3 EDNRB EFNB1 EFTUD2 ERF ETFA ETFB ETFDH FBN1 FGF10 FGFR1 FGFR2 FGFR3 FLNA FOXC1 FOXL2 GJA1 GLI3 GP1BB GPRASP2 HDAC8 HECW2 HHAT HIRA HIST1H1E HNRNPU HRAS IFT122 IFT43 IFT52 JMJD1C KCNH1 KCTD1 KIF1BP KITLG KMT2A KRAS LIG4 LMNA MAFB MAP2K2 MAP3K7 MASP1 MID1 MITF MUSK MYH3 NEK1 NOTCH2 NRAS NSUN2 OFD1 PAX3 PIK3R1 PIK3R2 PITX2 PTCH1 PTCH2 PTH1R PURA RAB23 RAPSN RNF125 RPS6KA3 RREB1 SEC24C SKI SLC26A2 SMC1A SNAI2 SOX10 SPECC1L SRCAP STAC3 SUFU TAPT1 TBL1XR1 TBX1 TFAP2A TLK2 TWIST2 UBE3B UFD1 VPS33A WDR35 XRCC4 ZMPSTE24 ZNF148 ZSWIM6

Diseases (108) :2995 614583 615458 615286 83473 263210 228390 1522 616681 2332 148050 618161 567 3473 847 75496 1777 615948 140952 300707 1299 617694 2990 601776 286 293843 615789 615033 615859 208150 615539 616894 897 895 304110 79113 610536 3267 231680 2462 149730 2117 300244 782 110100 218400 257850 380 301018 300882 617268 1422 617537 238769 2612 218330 614099 617102 2036 609460 319182 3339 99812 235 1662 2774 615280 157800 300000 193700 2751 955 102500 611091 2750 311200 894 896 148820 193500 3163 269880 377 50945 616158 201000 616260 303600 182212 56304 608890 163746 145410 2044 255995 616897 602342 113620 618050 1231 209885 2707 244450 617303 613610 617260 603671 1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.