Human Phenotype Ontology 
Grandparent Node:
expandBehavioral abnormality (HP:0000708)help
Parent Node:
expandAutistic behavior (HP:0000729)help
..Starting node
..expandAutism (HP:0000717)help
Term ID: 717
Name: Autism
Synonym: Autism
Definition: Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Comments:
Reference: HP:0000717
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAlexithymia (HP:0031433) help
..expandAutism with high cognitive abilities (HP:0000753) help
..expandImpaired social interactions (HP:0000735) help
..expandRestrictive behavior (HP:0000723) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000717HP:0000717Autism0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000717HP:0000717Autism0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000717HP:0000717Autism0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1211121316611192
HP:0000717HP:0000717Autism0ATRX CL E G H546847ORPHA11925886300032
HP:0000717HP:0000717Autism0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000717HP:0000717Autism0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0000717HP:0000717Autism0BCKDK CL E G H10295614923Branched-chain keto acid dehydrogenase kinase deficiency614923C3554078OMIM114516902614901
HP:0000717HP:0000717Autism0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM126161390114205
HP:0000717HP:0000717Autism0CHD7 CL E G H55636138ORPHA1293020626608892
HP:0000717HP:0000717Autism0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0000717HP:0000717Autism0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000717HP:0000717Autism0DHCR7 CL E G H1717818ORPHA17792860602858
HP:0000717HP:0000717Autism0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000717HP:0000717Autism0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000717HP:0000717Autism0EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0000717HP:0000717Autism0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000717HP:0000717Autism0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0000717HP:0000717Autism0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000717HP:0000717Autism0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1218527310607273
HP:0000717HP:0000717Autism0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13713775309550
HP:0000717HP:0000717Autism0GABRD CL E G H25631606ORPHA14744084137163
HP:0000717HP:0000717Autism0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000717HP:0000717Autism0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM15164279121013
HP:0000717HP:0000717Autism0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM14434281600897
HP:0000717HP:0000717Autism0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0000717HP:0000717Autism0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0000717HP:0000717Autism0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM14115996300206
HP:0000717HP:0000717Autism0KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0000717HP:0000717Autism0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0000717HP:0000717Autism0MAOA CL E G H4128300615Monoamine oxidase A deficiency300615C0796275OMIM13036833309850
HP:0000717HP:0000717Autism0MECP2 CL E G H4204778ORPHA119256990300005
HP:0000717HP:0000717Autism0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1157311957300188
HP:0000717HP:0000717Autism0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM1104722962608771
HP:0000717HP:0000717Autism0NAGA CL E G H466879281ORPHA12307631104170
HP:0000717HP:0000717Autism0NAGA CL E G H466879279ORPHA12307631104170
HP:0000717HP:0000717Autism0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM15897820300457
HP:0000717HP:0000717Autism0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000717HP:0000717Autism0OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0000717HP:0000717Autism0PAH CL E G H505379254ORPHA114468582612349
HP:0000717HP:0000717Autism0PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000717HP:0000717Autism0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000717HP:0000717Autism0PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0000717HP:0000717Autism0PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000717HP:0000717Autism0PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM130129588601728
HP:0000717HP:0000717Autism0RAI1 CL E G H107431713ORPHA116089834607642
HP:0000717HP:0000717Autism0RERE CL E G H4731606ORPHA16599965605226
HP:0000717HP:0000717Autism0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0000717HP:0000717Autism0SCN8A CL E G H6334614558Early infantile epileptic encephalopathy 13614558C3281191OMIM1179910596600702
HP:0000717HP:0000717Autism0SEMA3E CL E G H9723138ORPHA159410727608166
HP:0000717HP:0000717Autism0SH2B1 CL E G H25970261197ORPHA127930417608937
HP:0000717HP:0000717Autism0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000717HP:0000717Autism0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000717HP:0000717Autism0SKI CL E G H64971606ORPHA1106210896164780
HP:0000717HP:0000717Autism0SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0000717HP:0000717Autism0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000717HP:0000717Autism0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0000717HP:0000717Autism0TSC1 CL E G H7248191100Tuberous sclerosis 1191100C1854465OMIM1417212362605284
HP:0000717HP:0000717Autism0TSC2 CL E G H7249613254Tuberous sclerosis 2613254C1860707OMIM1963812363191092
HP:0000717HP:0000717Autism0UBE3A CL E G H7337238446ORPHA1110812496601623
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000717HP:0000717Autism0AARS CL E G H16442835ORPHA020601065
HP:0000717HP:0000717Autism0AKT1 CL E G H207201ORPHA0758391164730
HP:0000717HP:0000717Autism0ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000717HP:0000717Autism0ALMS1 CL E G H784064ORPHA05525428606844
HP:0000717HP:0000717Autism0AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0000717HP:0000717Autism0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA019416876606036
HP:0000717HP:0000717Autism0ARV1 CL E G H64801442835ORPHA08929561611647
HP:0000717HP:0000717Autism0ARVCF CL E G H421567ORPHA0620728602269
HP:0000717HP:0000717Autism0ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0000717HP:0000717Autism0CACNA1A CL E G H773442835ORPHA032481388601011
HP:0000717HP:0000717Autism0CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0000717HP:0000717Autism0CLTC CL E G H1213442835ORPHA06452092118955
HP:0000717HP:0000717Autism0CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0000717HP:0000717Autism0COMT CL E G H1312567ORPHA06102228116790
HP:0000717HP:0000717Autism0CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0000717HP:0000717Autism0DHDDS CL E G H79947442835ORPHA043420603608172
HP:0000717HP:0000717Autism0DNM1 CL E G H1759442835ORPHA07652972602377
HP:0000717HP:0000717Autism0DYM CL E G H54808239ORPHA032421317607461
HP:0000717HP:0000717Autism0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000717HP:0000717Autism0EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0000717HP:0000717Autism0FGF12 CL E G H2257442835ORPHA02593668601513
HP:0000717HP:0000717Autism0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA09363688136350
HP:0000717HP:0000717Autism0FMR1 CL E G H2332908ORPHA03713775309550
HP:0000717HP:0000717Autism0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM023913254300499
HP:0000717HP:0000717Autism0GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0000717HP:0000717Autism0GP1BB CL E G H2812567ORPHA04794440138720
HP:0000717HP:0000717Autism0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0000717HP:0000717Autism0GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0000717HP:0000717Autism0HCN1 CL E G H348980442835ORPHA07964845602780
HP:0000717HP:0000717Autism0HDAC4 CL E G H97591001Branchial arch defectsORPHA052614063605314
HP:0000717HP:0000717Autism0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0000717HP:0000717Autism0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM09364868605837
HP:0000717HP:0000717Autism0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA01124877601802
HP:0000717HP:0000717Autism0HIRA CL E G H7290567ORPHA04764916600237
HP:0000717HP:0000717Autism0HNF1B CL E G H6928261265ORPHA069711630189907
HP:0000717HP:0000717Autism0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03026109601491
HP:0000717HP:0000717Autism0IQSEC2 CL E G H23096217377ORPHA0114429059300522
HP:0000717HP:0000717Autism0JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000717HP:0000717Autism0KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0000717HP:0000717Autism0KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0000717HP:0000717Autism0KDM5C CL E G H824285279ORPHA075611114314690
HP:0000717HP:0000717Autism0KLLN CL E G H100144748201ORPHA034137212612105
HP:0000717HP:0000717Autism0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0000717HP:0000717Autism0LHX1 CL E G H3975261265ORPHA01406593601999
HP:0000717HP:0000717Autism0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM010136814605283
HP:0000717HP:0000717Autism0MEIS2 CL E G H4212261190ORPHA01427001601740
HP:0000717HP:0000717Autism0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM03577114603856
HP:0000717HP:0000717Autism0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0000717HP:0000717Autism0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000717HP:0000717Autism0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000717HP:0000717Autism0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000717HP:0000717Autism0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000717HP:0000717Autism0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000717HP:0000717Autism0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000717HP:0000717Autism0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000717HP:0000717Autism0MT-TF CL E G H4558550ORPHA07481590070
HP:0000717HP:0000717Autism0MT-TH CL E G H4564550ORPHA07487590040
HP:0000717HP:0000717Autism0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000717HP:0000717Autism0MT-TQ CL E G H4572550ORPHA07495590030
HP:0000717HP:0000717Autism0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000717HP:0000717Autism0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000717HP:0000717Autism0MT-TW CL E G H4578550ORPHA07501590095
HP:0000717HP:0000717Autism0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM03287675602117
HP:0000717HP:0000717Autism0NDP CL E G H4693649ORPHA02997678300658
HP:0000717HP:0000717Autism0NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0000717HP:0000717Autism0NFIB CL E G H4781618286618286618286OMIM02147785600728
HP:0000717HP:0000717Autism0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0000717HP:0000717Autism0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03871190610922
HP:0000717HP:0000717Autism0NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0000717HP:0000717Autism0NUS1 CL E G H116150442835ORPHA032621042610463
HP:0000717HP:0000717Autism0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA02318522600037
HP:0000717HP:0000717Autism0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA01568966605947
HP:0000717HP:0000717Autism0PIK3CA CL E G H5290201ORPHA011598975171834
HP:0000717HP:0000717Autism0PLXND1 CL E G H23129570ORPHA02149107604282
HP:0000717HP:0000717Autism0PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0000717HP:0000717Autism0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA016015836607123
HP:0000717HP:0000717Autism0PTEN CL E G H5728201ORPHA030129588601728
HP:0000717HP:0000717Autism0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM030330089600161
HP:0000717HP:0000717Autism0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM031433235611215
HP:0000717HP:0000717Autism0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0000717HP:0000717Autism0REV3L CL E G H5980570ORPHA02129968602776
HP:0000717HP:0000717Autism0RREB1 CL E G H6239567ORPHA029710449602209
HP:0000717HP:0000717Autism0SATB2 CL E G H23314251019ORPHA068421637608148
HP:0000717HP:0000717Autism0SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0000717HP:0000717Autism0SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0000717HP:0000717Autism0SDHB CL E G H6390201ORPHA0124910681185470
HP:0000717HP:0000717Autism0SDHC CL E G H6391201ORPHA079810682602413
HP:0000717HP:0000717Autism0SDHD CL E G H6392201ORPHA068610683602690
HP:0000717HP:0000717Autism0SEC23B CL E G H10483201ORPHA035310702610512
HP:0000717HP:0000717Autism0SEC24C CL E G H9632567ORPHA05810705607185
HP:0000717HP:0000717Autism0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0000717HP:0000717Autism0SIM1 CL E G H6492171829ORPHA022010882603128
HP:0000717HP:0000717Autism0SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0000717HP:0000717Autism0SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0000717HP:0000717Autism0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM029820197605881
HP:0000717HP:0000717Autism0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM018986770600993
HP:0000717HP:0000717Autism0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0000717HP:0000717Autism0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0000717HP:0000717Autism0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM030533020609837
HP:0000717HP:0000717Autism0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM030533067605436
HP:0000717HP:0000717Autism0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM039611164182279
HP:0000717HP:0000717Autism0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA021111195184429
HP:0000717HP:0000717Autism0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA026411199313430
HP:0000717HP:0000717Autism0STS CL E G H412281090ORPHA047511425300747
HP:0000717HP:0000717Autism0STS CL E G H412461ORPHA047511425300747
HP:0000717HP:0000717Autism0STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0000717HP:0000717Autism0SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0000717HP:0000717Autism0SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0000717HP:0000717Autism0SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0000717HP:0000717Autism0TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000717HP:0000717Autism0TBX1 CL E G H68991727ORPHA0116911592602054
HP:0000717HP:0000717Autism0TCF12 CL E G H6938615314Craniosynostosis 3615314C3715051OMIM030011623600480
HP:0000717HP:0000717Autism0TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0000717HP:0000717Autism0UBA5 CL E G H79876442835ORPHA022323230610552
HP:0000717HP:0000717Autism0UFD1 CL E G H7353567ORPHA041512520601754
HP:0000717HP:0000717Autism0WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000717HP:0000717Autism0WWOX CL E G H51741442835ORPHA0110212799605131
HP:0000717HP:0000717Autism0YWHAG CL E G H7532442835ORPHA018912852605356
HP:0000717HP:0000717Autism0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM025213503606025


Genes (168) :AARS ADSL AKT1 ALDH5A1 ALG13 ALMS1 ANKRD11 AP3B2 ARNT2 ARV1 ARVCF ATP6V1A ATRX AUTS2 BAZ1B BCKDK CACNA1A CACNA1C CHD7 CHRNA7 CLIP2 CLTC CNKSR2 COMT COX1 COX2 COX3 CREBBP CYFIP2 DHCR7 DHDDS DNM1 DPYD DYM DYRK1A EEF1A2 EHMT1 ELN EP300 FGF12 FGFR1 FLCN FMR1 FTSJ1 GABRB2 GABRD GATM GJA5 GJA8 GP1BB GRIA3 GRIN2D GTF2I GTF2IRD1 HCN1 HDAC4 HDAC8 HERC2 HESX1 HIRA HNF1B IL1RAPL1 IPW IQSEC2 JMJD1C KCNA2 KCNAB2 KCNB1 KDM5C KLLN KMT2A LHX1 LIMK1 MAGEL2 MAOA MECP2 MED12 MED13L MEIS2 MKRN3 MKRN3-AS1 NAGA ND1 ND4 ND5 ND6 NDN NDP NECAP1 NFIB NHS NIPBL NLGN4X NPAP1 NTRK2 NUS1 OPHN1 OTX2 PAH PDE4D PIGL PIK3CA PLXND1 PPP3CA PRDM16 PRKAR1A PROKR2 PTEN PWAR1 PWRN1 RAD21 RAI1 RERE REV3L RFC2 RREB1 SATB2 SCN3A SCN8A SDHB SDHC SDHD SEC23B SEC24C SEMA3E SETD5 SH2B1 SHANK3 SIM1 SIN3A SKI SLC13A5 SLC1A2 SLC35C1 SLC9A6 SMAD4 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SOX2 SOX3 STS STXBP1 SYNGAP1 SYNJ1 SZT2 TBL2 TBX1 TCF12 TRAK1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 UBA5 UBE3A UFD1 WFS1 WWOX YWHAG ZBTB20

Diseases (78) :442835 103050 201 271980 324422 64 261250 3157 567 847 615834 904 614923 601005 138 199318 550 180849 818 270400 274270 239 614104 96147 610253 610883 908 300624 309549 1606 612718 612474 300699 1001 199 176270 261265 300143 217377 85279 300615 778 309520 616789 261190 79279 79281 649 618286 302350 300495 137831 79254 280651 614613 3474 570 605309 1713 251019 614558 261197 606232 171829 613406 266265 85278 139210 209850 461 281090 1727 615314 191100 613254 238446 614296 259050
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.