Human Phenotype Ontology 
Grandparent Node:
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Abnormal joint morphology (HP:0001367)help
Parent Node:
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Abnormality of joint mobility (HP:0011729)help
..Starting node
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Joint laxity (HP:0001388)help
Term ID: 1388
Name: Joint laxity
Synonym: Hyperlaxity; Joint instability; Joint ligamentous laxity; Lax joints; Ligamentous laxity; Loose-jointedness; Loosejointedness
Definition: Lack of stability of a joint.
Comments:
Reference: HP:0001388
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of hand joint mobility (HP:0006256) help
..expandFlexion contracture (HP:0001371) help
..expandJoint hypermobility (HP:0001382) help
..expandLimitation of joint mobility (HP:0001376) help
..expandSynostosis of joints (HP:0100240) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001388HP:0001388Joint laxity0ACAN CL E G H176171866ORPHA164178319155760
HP:0001388HP:0001388Joint laxity0ACTA1 CL E G H582020ORPHA1217272129102610
HP:0001388HP:0001388Joint laxity0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0001388HP:0001388Joint laxity0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0001388HP:0001388Joint laxity0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0001388HP:0001388Joint laxity0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001388HP:0001388Joint laxity0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0001388HP:0001388Joint laxity0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0001388HP:0001388Joint laxity0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0001388HP:0001388Joint laxity0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0001388HP:0001388Joint laxity0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0001388HP:0001388Joint laxity0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001388HP:0001388Joint laxity0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0001388HP:0001388Joint laxity0C1R CL E G H715130080Ehlers-Danlos syndrome, type 8130080C0268347OMIM118721246613785
HP:0001388HP:0001388Joint laxity0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001388HP:0001388Joint laxity0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0001388HP:0001388Joint laxity0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0001388HP:0001388Joint laxity0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0001388HP:0001388Joint laxity0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001388HP:0001388Joint laxity0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0001388HP:0001388Joint laxity0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA1158062188120320
HP:0001388HP:0001388Joint laxity0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM1158062188120320
HP:0001388HP:0001388Joint laxity0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM196711052197120150
HP:0001388HP:0001388Joint laxity0COL1A2 CL E G H1278225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form225320C1857034OMIM15237942198120160
HP:0001388HP:0001388Joint laxity0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113710072211120220
HP:0001388HP:0001388Joint laxity0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0001388HP:0001388Joint laxity0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA119111482212120240
HP:0001388HP:0001388Joint laxity0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0001388HP:0001388Joint laxity0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA114316342213120250
HP:0001388HP:0001388Joint laxity0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0001388HP:0001388Joint laxity0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM11881862227600310
HP:0001388HP:0001388Joint laxity0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001388HP:0001388Joint laxity0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001388HP:0001388Joint laxity0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001388HP:0001388Joint laxity0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0001388HP:0001388Joint laxity0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0001388HP:0001388Joint laxity0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0001388HP:0001388Joint laxity0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0001388HP:0001388Joint laxity0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0001388HP:0001388Joint laxity0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001388HP:0001388Joint laxity0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0001388HP:0001388Joint laxity0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001388HP:0001388Joint laxity0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM1231423602604580
HP:0001388HP:0001388Joint laxity0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM14416118169607063
HP:0001388HP:0001388Joint laxity0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM14416118169607063
HP:0001388HP:0001388Joint laxity0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0001388HP:0001388Joint laxity0FMR1 CL E G H2332908ORPHA1812813775309550
HP:0001388HP:0001388Joint laxity0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0001388HP:0001388Joint laxity0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0001388HP:0001388Joint laxity0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0001388HP:0001388Joint laxity0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0001388HP:0001388Joint laxity0HACD1 CL E G H92002020ORPHA11339639610467
HP:0001388HP:0001388Joint laxity0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0001388HP:0001388Joint laxity0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001388HP:0001388Joint laxity0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0001388HP:0001388Joint laxity0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0001388HP:0001388Joint laxity0ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0001388HP:0001388Joint laxity0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0001388HP:0001388Joint laxity0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142726391603213
HP:0001388HP:0001388Joint laxity0LRP5 CL E G H40412788ORPHA12214116697603506
HP:0001388HP:0001388Joint laxity0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM1182396717604710
HP:0001388HP:0001388Joint laxity0MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0001388HP:0001388Joint laxity0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0001388HP:0001388Joint laxity0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0001388HP:0001388Joint laxity0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0001388HP:0001388Joint laxity0MYL2 CL E G H46332020ORPHA1672827583160781
HP:0001388HP:0001388Joint laxity0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001388HP:0001388Joint laxity0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0001388HP:0001388Joint laxity0NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0001388HP:0001388Joint laxity0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0001388HP:0001388Joint laxity0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0001388HP:0001388Joint laxity0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0001388HP:0001388Joint laxity0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM16526419316610339
HP:0001388HP:0001388Joint laxity0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198938616167409
HP:0001388HP:0001388Joint laxity0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001388HP:0001388Joint laxity0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0001388HP:0001388Joint laxity0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0001388HP:0001388Joint laxity0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0001388HP:0001388Joint laxity0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0001388HP:0001388Joint laxity0PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0001388HP:0001388Joint laxity0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0001388HP:0001388Joint laxity0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0001388HP:0001388Joint laxity0RMRP CL E G H6023250460Metaphyseal dysplasia without hypotrichosis250460C1834821OMIM112341110031157660
HP:0001388HP:0001388Joint laxity0RYR1 CL E G H6261597ORPHA1688309410483180901
HP:0001388HP:0001388Joint laxity0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688309410483180901
HP:0001388HP:0001388Joint laxity0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM144810701610511
HP:0001388HP:0001388Joint laxity0SELENON CL E G H571902020ORPHA16335415999606210
HP:0001388HP:0001388Joint laxity0SERPINF1 CL E G H5176613982Osteogenesis imperfecta, type VI613982C3279564OMIM1441688824172860
HP:0001388HP:0001388Joint laxity0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM181031546600943
HP:0001388HP:0001388Joint laxity0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001388HP:0001388Joint laxity0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0001388HP:0001388Joint laxity0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0001388HP:0001388Joint laxity0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0001388HP:0001388Joint laxity0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0001388HP:0001388Joint laxity0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14424516974611421
HP:0001388HP:0001388Joint laxity0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0001388HP:0001388Joint laxity0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM142518345611357
HP:0001388HP:0001388Joint laxity0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0001388HP:0001388Joint laxity0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0001388HP:0001388Joint laxity0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0001388HP:0001388Joint laxity0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0001388HP:0001388Joint laxity0TPM2 CL E G H71692020ORPHA14019912011190990
HP:0001388HP:0001388Joint laxity0TPM3 CL E G H71702020ORPHA12822512012191030
HP:0001388HP:0001388Joint laxity0TRIP4 CL E G H9325486815ORPHA134812310604501
HP:0001388HP:0001388Joint laxity0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0001388HP:0001388Joint laxity0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0001388HP:0001388Joint laxity0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001388HP:0001388Joint laxity0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM12316715516608124
HP:0001388HP:0001388Joint laxity0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0001388HP:0001388Joint laxity0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16964123216612078
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001388HP:0001388Joint laxity0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0001388HP:0001388Joint laxity0AGRN CL E G H37579098914ORPHA018942329103320
HP:0001388HP:0001388Joint laxity0ALG14 CL E G H199857353327ORPHA065228287612866
HP:0001388HP:0001388Joint laxity0ALG2 CL E G H85365353327ORPHA0515323159607905
HP:0001388HP:0001388Joint laxity0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001388HP:0001388Joint laxity0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM05701184616082
HP:0001388HP:0001388Joint laxity0CHAT CL E G H110398914ORPHA0773741912118490
HP:0001388HP:0001388Joint laxity0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001388HP:0001388Joint laxity0COL13A1 CL E G H130598914ORPHA03682190120350
HP:0001388HP:0001388Joint laxity0DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0001388HP:0001388Joint laxity0DPAGT1 CL E G H1798353327ORPHA0421572995191350
HP:0001388HP:0001388Joint laxity0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001388HP:0001388Joint laxity0GFPT1 CL E G H2673353327ORPHA0502924241138292
HP:0001388HP:0001388Joint laxity0GMPPB CL E G H29925353327ORPHA04915122932615320
HP:0001388HP:0001388Joint laxity0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001388HP:0001388Joint laxity0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001388HP:0001388Joint laxity0HYMAI CL E G H5706196191ORPHA0155326606546
HP:0001388HP:0001388Joint laxity0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM08131112637300128
HP:0001388HP:0001388Joint laxity0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001388HP:0001388Joint laxity0MRE11 CL E G H4361251347ORPHA05711047230600814
HP:0001388HP:0001388Joint laxity0MYO9A CL E G H464998914ORPHA06957608604875
HP:0001388HP:0001388Joint laxity0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM0126119237605202
HP:0001388HP:0001388Joint laxity0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0001388HP:0001388Joint laxity0PLAGL1 CL E G H532596191ORPHA02299046603044
HP:0001388HP:0001388Joint laxity0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001388HP:0001388Joint laxity0RYR1 CL E G H626198905ORPHA0688309410483180901
HP:0001388HP:0001388Joint laxity0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM0418415454602775
HP:0001388HP:0001388Joint laxity0SLC18A3 CL E G H657298914ORPHA068910936600336
HP:0001388HP:0001388Joint laxity0SLC25A1 CL E G H657698914ORPHA02442910979190315
HP:0001388HP:0001388Joint laxity0SLC5A7 CL E G H6048298914ORPHA02016914025608761
HP:0001388HP:0001388Joint laxity0SMAD3 CL E G H4088284984ORPHA0955926769603109
HP:0001388HP:0001388Joint laxity0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109
HP:0001388HP:0001388Joint laxity0SNAP25 CL E G H661698914ORPHA076411132600322
HP:0001388HP:0001388Joint laxity0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM0512930172608626
HP:0001388HP:0001388Joint laxity0SYT2 CL E G H12783398914ORPHA033911510600104
HP:0001388HP:0001388Joint laxity0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001388HP:0001388Joint laxity0TRMT10A CL E G H93587616033Microcephaly, short stature, and impaired glucose metabolism 1616033C4014997OMIM082928403616013
HP:0001388HP:0001388Joint laxity0TUBB3 CL E G H10381300570ORPHA02615520772602661
HP:0001388HP:0001388Joint laxity0VAMP1 CL E G H684398914ORPHA066412642185880


Genes (137) :ACAN ACTA1 ADAMTS2 ADNP AGA AGRN ALG14 ALG2 ARID1B ATP6V1E1 ATP7A B3GALT6 B3GAT3 B3GLCT B4GALT7 BAZ1B C12ORF4 C1R CANT1 CBL CCDC47 CDC45 CHAT CHST14 CHST3 CLIP2 COL12A1 COL13A1 COL1A1 COL1A2 COL6A1 COL6A2 COL6A3 COMP CREBBP CUL4B DCHS1 DCPS DDRGK1 DDX3X DPAGT1 EED EFNB1 ELN EP300 ERMARD FAT4 FBLN5 FKBP10 FLNB FMR1 GALNS GATA1 GFPT1 GLB1 GMPPB GTF2I GTF2IRD1 HACD1 HERC1 HNRNPH2 HYMAI IFT122 IFT43 ITGA7 KCNJ2 KDM6A KIF22 LIMK1 LRP5 LTBP4 MAP3K20 MAP3K7 MED12 MLXIPL MRE11 MYL2 MYO9A NANS NONO NOTCH2 NPR2 NSD1 ORC1 OTX2 P3H1 PAX2 PIGS PIK3CA PIK3R1 PLAGL1 PLOD1 POGZ PORCN PUF60 RAB3GAP2 RET RFC2 RMRP RYR1 SEC23A SELENON SERPINF1 SERPINH1 SHOC2 SIN3A SKI SLC18A3 SLC25A1 SLC2A10 SLC39A13 SLC5A7 SLC6A9 SMAD3 SNAP25 SRCAP STRADA SYT2 TBL2 TCTN3 TENT5A TGDS TGFBR1 TGFBR2 TMEM165 TPM2 TPM3 TRIP4 TRMT10A TUBB3 UBR1 USP9X VAMP1 WDR35 XYLT1 YY1 ZNF469

Diseases (113) :171866 612813 2020 225410 615873 208400 98914 353327 135900 617402 304150 309400 271640 245600 261540 130070 904 618221 130080 251450 613563 618268 617063 601776 610 616471 130060 225320 254090 177170 180849 300354 601390 616459 602557 457260 617561 304110 194050 75857 615546 219100 259450 610968 150250 908 300624 253000 190685 253010 617011 300986 96191 218330 614099 170390 300867 603546 2788 613177 157800 309520 251347 610442 300967 102500 602875 117550 224690 610125 610915 120330 618143 602501 269880 225400 616364 305600 508488 212720 162300 250460 98905 597 255320 607812 613982 613848 607721 613406 182212 208050 612350 617301 284984 613795 136140 611087 614815 617952 616145 609192 610168 614727 486815 616033 300570 243800 300968 613610 615777 617557 229200
 

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