Human Phenotype Ontology 
Grandparent Node:
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Flexion contracture (HP:0001371)help
Parent Node:
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Congenital contracture (HP:0002803)help
..Starting node
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Arthrogryposis multiplex congenita (HP:0002804)help
Term ID: 2804
Name: Arthrogryposis multiplex congenita
Synonym: Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures
Definition: Multiple congenital contractures in different body areas.
Comments:
Reference: HP:0002804
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital finger flexion contractures (HP:0005879) help
..expandCongenital foot contraction deformities (HP:0005853) help
..expandCongenital foot contractures (HP:0005745) help
..expandDistal arthrogryposis (HP:0005684) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ABCC8 CL E G H683399885ORPHA1156959600509
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ABCC8 CL E G H683399886ORPHA1156959600509
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM172237600294
HP:0002804HP:0002804Arthrogryposis multiplex congenita0AGRN CL E G H37579098914ORPHA11782329103320
HP:0002804HP:0002804Arthrogryposis multiplex congenita0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0002804HP:0002804Arthrogryposis multiplex congenita0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0002804HP:0002804Arthrogryposis multiplex congenita0BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CACNA1E CL E G H777618285618285618285OMIM110881392601013
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHAT CL E G H110398914ORPHA17711912118490
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHRNG CL E G H11462990ORPHA12201967100730
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM121124464608429
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0002804HP:0002804Arthrogryposis multiplex congenita0COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002804HP:0002804Arthrogryposis multiplex congenita0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12162859606418
HP:0002804HP:0002804Arthrogryposis multiplex congenita0DOK7 CL E G H285489994ORPHA184026594610285
HP:0002804HP:0002804Arthrogryposis multiplex congenita0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM184026594610285
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11703147605896
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM1973431190151
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC1 CL E G H20671466ORPHA11133433126380
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC2 CL E G H20681466ORPHA111963434126340
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC5 CL E G H20731466ORPHA14253437133530
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM14253437133530
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC6 CL E G H20741466ORPHA111703438609413
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ERGIC1 CL E G H57222208100Arthrogryposis multiplex congenita neurogenic type208100C1859721OMIM12529205617946
HP:0002804HP:0002804Arthrogryposis multiplex congenita0FBN2 CL E G H2201115ORPHA123093604612570
HP:0002804HP:0002804Arthrogryposis multiplex congenita0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GBA CL E G H262985212ORPHA14177606463
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM16004180607839
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GCK CL E G H264599885ORPHA17624195138079
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM13824315603371
HP:0002804HP:0002804Arthrogryposis multiplex congenita0GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13824315603371
HP:0002804HP:0002804Arthrogryposis multiplex congenita0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0002804HP:0002804Arthrogryposis multiplex congenita0HYMAI CL E G H5706199886ORPHA1175326606546
HP:0002804HP:0002804Arthrogryposis multiplex congenita0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0002804HP:0002804Arthrogryposis multiplex congenita0INS CL E G H363099885ORPHA11686081176730
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ITGA6 CL E G H3655226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM12156142147556
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ITGB4 CL E G H3691226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM14396158147557
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KAT6B CL E G H2352285201ORPHA160517582605880
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KCNJ11 CL E G H376799886ORPHA13806257600937
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KCNJ11 CL E G H376799885ORPHA13806257600937
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KIF14 CL E G H9928616258Meckel syndrome 12616258C4015701OMIM117619181611279
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM11856325604593
HP:0002804HP:0002804Arthrogryposis multiplex congenita0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0002804HP:0002804Arthrogryposis multiplex congenita0LMNA CL E G H40001662ORPHA116226636150330
HP:0002804HP:0002804Arthrogryposis multiplex congenita0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MUSK CL E G H4593994ORPHA14967525601296
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14967525601296
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM12797549160794
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM12897578160741
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYO9A CL E G H464998914ORPHA11727608604875
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYOD1 CL E G H4654994ORPHA1357611159970
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEK9 CL E G H91754614262Arthrogryposis, perthes disease, and upward gaze palsy614262C3280309OMIM18218591609798
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PDX1 CL E G H365199885ORPHA11456107600733
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM16318983600286
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM175526270613629
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM175526270613629
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM13614937610271
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PIP5K1C CL E G H23396611369Lethal congenital contractural syndrome 3611369C1969655OMIM11348996606102
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PLAGL1 CL E G H532599886ORPHA1329046603044
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PLEC CL E G H5339226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM141529069601282
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PPP3CA CL E G H5530618265618265618265OMIM12339314114105
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PSMB8 CL E G H56962615ORPHA11619545177046
HP:0002804HP:0002804Arthrogryposis multiplex congenita0RAPSN CL E G H5913994ORPHA14339863601592
HP:0002804HP:0002804Arthrogryposis multiplex congenita0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM14339863601592
HP:0002804HP:0002804Arthrogryposis multiplex congenita0RFT1 CL E G H91869244310ORPHA139930220611908
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SHPK CL E G H23729440713ORPHA11541492605060
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC35A3 CL E G H23443615553Arthrogryposis, mental retardation, and seizures615553C3809910OMIM119911023605632
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SNAP25 CL E G H661698914ORPHA119111132600322
HP:0002804HP:0002804Arthrogryposis multiplex congenita0STAT3 CL E G H677499885ORPHA150511364102582
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SYT2 CL E G H12783398914ORPHA116011510600104
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM128012011190990
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0002804HP:0002804Arthrogryposis multiplex congenita0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0002804HP:0002804Arthrogryposis multiplex congenita0VAMP1 CL E G H684398914ORPHA111812642185880
HP:0002804HP:0002804Arthrogryposis multiplex congenita0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116720347613401
HP:0002804HP:0002804Arthrogryposis multiplex congenita0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM128812712608552
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ZFP57 CL E G H34617199886ORPHA18718791612192
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ZMPSTE24 CL E G H102691662ORPHA117612877606480
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ACTA1 CL E G H58171430ORPHA0392129102610
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ACTA1 CL E G H58171439ORPHA0392129102610
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ACTA1 CL E G H58171433ORPHA0392129102610
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ACTA1 CL E G H58171436ORPHA0392129102610
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM010224268614215
HP:0002804HP:0002804Arthrogryposis multiplex congenita0C12orf65 CL E G H91574320375ORPHA026784613541
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CFL2 CL E G H1073171436ORPHA01471875601443
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM01888740164010
HP:0002804HP:0002804Arthrogryposis multiplex congenita0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM02678011602346
HP:0002804HP:0002804Arthrogryposis multiplex congenita0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM035022140611061
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KBTBD13 CL E G H390594171439ORPHA043137227613727
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KIF1A CL E G H5472836ORPHA02132888601255
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL40 CL E G H131377171430ORPHA037830372615340
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL41 CL E G H10324171436ORPHA022016905607701
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL41 CL E G H10324171433ORPHA022016905607701
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL41 CL E G H10324171430ORPHA022016905607701
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL41 CL E G H10324171439ORPHA022016905607701
HP:0002804HP:0002804Arthrogryposis multiplex congenita0KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM022016905607701
HP:0002804HP:0002804Arthrogryposis multiplex congenita0LMOD3 CL E G H56203171436ORPHA03266649616112
HP:0002804HP:0002804Arthrogryposis multiplex congenita0LMOD3 CL E G H56203171430ORPHA03266649616112
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM06206814605283
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MECP2 CL E G H4204778ORPHA017786990300005
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TF CL E G H4558550ORPHA07481590070
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TH CL E G H4564550ORPHA07487590040
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TQ CL E G H4572550ORPHA07495590030
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MT-TW CL E G H4578550ORPHA07501590095
HP:0002804HP:0002804Arthrogryposis multiplex congenita0MYPN CL E G H84665171439ORPHA0126323246608517
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEB CL E G H4703171430ORPHA064447720161650
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEB CL E G H4703171433ORPHA064447720161650
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEB CL E G H4703171439ORPHA064447720161650
HP:0002804HP:0002804Arthrogryposis multiplex congenita0NEB CL E G H4703171436ORPHA064447720161650
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA05198923606879
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PLXND1 CL E G H23129570ORPHA01189107604282
HP:0002804HP:0002804Arthrogryposis multiplex congenita0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA044319129610936
HP:0002804HP:0002804Arthrogryposis multiplex congenita0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM04339863601592
HP:0002804HP:0002804Arthrogryposis multiplex congenita0REV3L CL E G H5980570ORPHA01339968602776
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM037514025608761
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SLC9A6 CL E G H1047985278ORPHA053611079300231
HP:0002804HP:0002804Arthrogryposis multiplex congenita0SOX10 CL E G H6663163746ORPHA030211190602229
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM2 CL E G H7169171439ORPHA028012011190990
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM2 CL E G H7169171436ORPHA028012011190990
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM3 CL E G H7170171433ORPHA030012012191030
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TPM3 CL E G H7170171439ORPHA030012012191030
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM013912310604501
HP:0002804HP:0002804Arthrogryposis multiplex congenita0TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM089118083605427
HP:0002804HP:0002804Arthrogryposis multiplex congenita0ZNHIT3 CL E G H93262836ORPHA011012309604500


Genes (123) :ABCC8 ACTA1 ADCY6 AGRN AIMP1 ALG3 ASCC1 AUTS2 BICD2 C12ORF65 CACNA1E CDK5 CFL2 CHAT CHMP1A CHRNA1 CHRNE CHRNG CHST14 CNTNAP1 COL13A1 COX1 COX2 COX3 DHCR24 DOK7 ECEL1 ERBB3 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 FAM20C FBN2 FKBP10 GBA GBE1 GCK GFPT1 GLE1 HSPG2 HYMAI IBA57 INS ITGA6 ITGB4 KAT6B KBTBD13 KCNJ11 KIF14 KIF1A KIF5C KLHL40 KLHL41 LGI4 LMNA LMOD3 MAGEL2 MECP2 MUSK MYBPC1 MYH3 MYH8 MYO9A MYOD1 MYPN ND1 ND4 ND5 ND6 NEB NEK9 PDX1 PHGDH PI4KA PIEZO2 PIGS PIP5K1C PLAGL1 PLEC PLOD2 PLXND1 PPP3CA PSAT1 PSMB8 RAPSN REV3L RFT1 SHPK SLC18A3 SLC25A1 SLC35A3 SLC5A7 SLC6A9 SLC9A6 SNAP25 SOX10 STAT3 SYT2 TBCD TNNI2 TNNT3 TPM2 TPM3 TRIP4 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV4 UBA1 VAMP1 VIPAS39 VPS33B ZC4H2 ZFP57 ZMPSTE24 ZNF335 ZNHIT3

Diseases (92) :99886 99885 171430 171439 171436 171433 161800 616287 98914 260600 601110 616867 615834 618291 320375 618285 616342 254210 614961 608930 608931 2990 265000 601776 618186 616286 550 602398 994 208150 615065 607598 1466 610758 616570 214150 208100 259775 115 2771 85212 608013 232500 611890 253310 800 615330 226730 85201 616258 2836 615282 615731 617468 1662 616165 615547 778 614335 601680 178110 158300 256030 614262 2671 616531 2461 114300 108145 618143 611369 570 618265 2615 616326 244310 440713 615553 617143 617301 85278 163746 617193 108120 616866 600175 156530 301830 613404 208085 314580 615095
 

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