Human Phenotype Ontology 
Grandparent Node:
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Limb joint contracture (HP:0003121)help
Parent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of upper limb joint (HP:0009810)help
Parent Node:
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Contractures of the joints of the upper limbs (HP:0100360)help
..Starting node
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Joint contracture of the hand (HP:0009473)help
Term ID: 9473
Name: Joint contracture of the hand
Synonym: Contractures involving the hands; Contractures of the hands
Definition: Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Comments:
Reference: HP:0009473
Genes and Diseases:
 
       Child Nodes:
........expandDupuytren contracture (HP:0005679) help
........expandFlexion contracture of finger (HP:0012785) help
................... HP:0001220 Interphalangeal joint contracture of finger
................... HP:0009183 Joint contracture of the 5th finger
................... HP:0009274 Joint contracture of the 4th finger
................... HP:0009319 Joint contracture of the 3rd finger
................... HP:0009537 Flexion contracture of the 2nd finger
................... HP:0009600 Flexion contracture of thumb
........expandBethlem sign (HP:0030233) help

 Sister Nodes: 
..expandElbow flexion contracture (HP:0002987) help
..expandShoulder flexion contracture (HP:0003044) help
..expandWrist flexion contracture (HP:0001239) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009473HP:0009473Joint contracture of the hand0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand0CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand0HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand0SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand0TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand0TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0009473HP:0009473Joint contracture of the hand1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand1CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand1FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand1GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand1HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand1PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand1SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand1SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand1TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand1TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0009473HP:0009473Joint contracture of the hand2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand2ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand2BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand2CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand2CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand2COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand2FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand2FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand2FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand2GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand2HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand2MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand2NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand2OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand2ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand2PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand2PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand2PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand2PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand2SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand2SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand2TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand2TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand2TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand2TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand2TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand2UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0009473HP:0009473Joint contracture of the hand3ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand3ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand3AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand3BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand3CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand3CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand3CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand3COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand3FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand3FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand3FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand3GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand3HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand3HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand3LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand3MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand3MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand3NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand3OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand3ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand3PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand3PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand3PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand3PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand3PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand3POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand3PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand3RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand3ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand3SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand3SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand3TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand3TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand3TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand3TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand3TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand3UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0009473HP:0009473Joint contracture of the hand4ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand4ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand4ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand4AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand4BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand4CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand4CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand4CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand4COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand4ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand4EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand4FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand4FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand4FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand4GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand4HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand4HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand4LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand4MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand4MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand4NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand4OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand4ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand4PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand4PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand4PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand4PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand4PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand4POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand4PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand4RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand4ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand4SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand4SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand4TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand4TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand4TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand4TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand4TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand4UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand4WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0009473HP:0009473Joint contracture of the hand5ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0009473HP:0009473Joint contracture of the hand5ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0009473HP:0009473Joint contracture of the hand5ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0009473HP:0009473Joint contracture of the hand5AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0009473HP:0009473Joint contracture of the hand5BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0009473HP:0009473Joint contracture of the hand5CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0009473HP:0009473Joint contracture of the hand5CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0009473HP:0009473Joint contracture of the hand5CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0009473HP:0009473Joint contracture of the hand5COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0009473HP:0009473Joint contracture of the hand5ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0009473HP:0009473Joint contracture of the hand5EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0009473HP:0009473Joint contracture of the hand5FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0009473HP:0009473Joint contracture of the hand5FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0009473HP:0009473Joint contracture of the hand5FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11725524682609144
HP:0009473HP:0009473Joint contracture of the hand5GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0009473HP:0009473Joint contracture of the hand5HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0009473HP:0009473Joint contracture of the hand5HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0009473HP:0009473Joint contracture of the hand5LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0009473HP:0009473Joint contracture of the hand5MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0009473HP:0009473Joint contracture of the hand5MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0009473HP:0009473Joint contracture of the hand5NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0009473HP:0009473Joint contracture of the hand5OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0009473HP:0009473Joint contracture of the hand5ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0009473HP:0009473Joint contracture of the hand5PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0009473HP:0009473Joint contracture of the hand5PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0009473HP:0009473Joint contracture of the hand5PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0009473HP:0009473Joint contracture of the hand5PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0009473HP:0009473Joint contracture of the hand5PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0009473HP:0009473Joint contracture of the hand5PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0009473HP:0009473Joint contracture of the hand5POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0009473HP:0009473Joint contracture of the hand5PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0009473HP:0009473Joint contracture of the hand5RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0009473HP:0009473Joint contracture of the hand5ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0009473HP:0009473Joint contracture of the hand5SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0009473HP:0009473Joint contracture of the hand5SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0009473HP:0009473Joint contracture of the hand5TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0009473HP:0009473Joint contracture of the hand5TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0009473HP:0009473Joint contracture of the hand5TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0009473HP:0009473Joint contracture of the hand5TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0009473HP:0009473Joint contracture of the hand5TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0009473HP:0009473Joint contracture of the hand5UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0009473HP:0009473Joint contracture of the hand5WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009473HP:0009473Joint contracture of the hand0CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand0CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand0CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand0HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand0IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand0KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand0MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand0TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661
HP:0009473HP:0009473Joint contracture of the hand1CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand1CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand1CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand1HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand1IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand1KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand1MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand1TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661
HP:0009473HP:0009473Joint contracture of the hand2CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand2CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand2CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand2GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand2HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand2IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand2KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand2MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand2TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661
HP:0009473HP:0009473Joint contracture of the hand3CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand3CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand3CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand3DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand3GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand3HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand3IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand3KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand3MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand3SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand3TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661
HP:0009473HP:0009473Joint contracture of the hand4CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand4CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand4CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand4DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand4GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand4HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand4IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand4KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand4MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand4SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand4TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661
HP:0009473HP:0009473Joint contracture of the hand5CAV1 CL E G H857220402ORPHA013621527601047
HP:0009473HP:0009473Joint contracture of the hand5CCN2 CL E G H1490220402ORPHA0222500121009
HP:0009473HP:0009473Joint contracture of the hand5CCR6 CL E G H1235220402ORPHA01481607601835
HP:0009473HP:0009473Joint contracture of the hand5DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0009473HP:0009473Joint contracture of the hand5GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0009473HP:0009473Joint contracture of the hand5HLA-DRB1 CL E G H3123220402ORPHA026194948142857
HP:0009473HP:0009473Joint contracture of the hand5IRF5 CL E G H3663220402ORPHA010386120607218
HP:0009473HP:0009473Joint contracture of the hand5KIAA0319L CL E G H79932220402ORPHA02830071613535
HP:0009473HP:0009473Joint contracture of the hand5MYBPC1 CL E G H4604614335Distal arthrogryposis type 1B614335C3280526OMIM081157549160794
HP:0009473HP:0009473Joint contracture of the hand5SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0009473HP:0009473Joint contracture of the hand5TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM02615520772602661


Genes (204) :ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ALG3 ALX1 ALX3 AMER1 ANO5 ANTXR2 ARID1B ASXL1 BCOR BCR BMP4 C19ORF12 CANT1 CAPN3 CAV1 CCBE1 CCN2 CCN6 CCR6 CDC45 CDC6 CDH3 CDKL5 CDT1 CHRNG CHST3 CLCF1 CNTN1 COL11A1 COL11A2 COL12A1 COL17A1 COL6A1 COL6A2 COL6A3 CRKL CRLF1 CTDP1 CUL4B DHCR24 DHODH DLL3 DOK7 DVL1 DVL3 ECE1 EED EFNB1 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 ERLIN2 EZH2 FAT4 FBN1 FBN2 FERMT1 FGD1 FGFR2 FGFR3 FHL1 FKTN FLNA FLVCR1 FOXG1 FZD2 GABBR2 GABRD GDF5 GJA1 GLI3 GMNN GPC3 GPC4 GPKOW GTF2H5 HACD1 HES7 HINT1 HLA-DRB1 HOXD13 HSPG2 IDUA IGHMBP2 IKBKG IRF5 ITGA7 ITGB4 KAT6B KCNAB2 KDM5C KIAA0319L KLHL7 L1CAM LAGE3 LAMA3 LAMB3 LAMC2 LARGE1 LFNG LIFR LMBR1 LMNA MAFB MAP3K20 MAP3K7 MAPK1 MBTPS2 MECP2 MED12 MEGF10 MESP2 MMP2 MUSK MYBPC1 MYH3 MYL2 MYOD1 NAA10 NALCN NLRP3 NOD2 NOG NSD1 NTNG1 NUP107 NXN OCRL ORC1 ORC4 ORC6 OSGEP PAX3 PEX1 PEX5 PEX6 PHGDH PIEZO2 PIGL PITX1 PLEKHG5 POR PORCN PQBP1 PRDM16 PRG4 PSMB8 RAB23 RAPSN RERE RIPPLY2 ROR2 SCARF2 SELENON SH3PXD2B SHH SIN3A SKI SLC16A2 SLC26A2 SLC35A3 SLC39A13 SMAD3 SMARCAD1 SMG9 SMOC1 SRCAP STXBP1 SUZ12 TBR1 TBX15 TBX3 TCTN3 TGDS TGFBR1 TGFBR2 TMEM70 TNNI2 TNNT3 TP53RK TP63 TPM2 TPM3 TPRKB TRPS1 TRPV4 TUBB3 TWIST2 UBA1 UPF3B UROS WDR4 WDR73 WNT5A XYLT1 ZDHHC9 ZMPSTE24

Diseases (171) :231050 601110 136760 300373 309800 220402 235510 225280 612540 228520 602398 214150 277590 610474 300280 609033 175700 616395 186300 255800 608840 305450 614335 193700 309000 224690 148820 214110 256520 248700 280000 611067 201750 309500 201000 113000 600920 182212 612350 260660 609192 610168 603543 108120 600638 263700 251300 2020 206549 320370 209951 88628 607932 164200 307000 259600 186550 300799 2604 2136 306542 391474 2176 251056 97297 568 261330 1425 208230 2554 3095 2990 143095 1545 2021 610 226650 158810 48431 85293 246 2311 994 208150 3107 613870 3447 1520 1270 1466 610758 610756 1143 2462 115 121050 2908 915 83 85164 272 90652 1826 305620 300244 1606 3250 93404 2710 373 2570 324442 93406 186000 93473 604320 464 3047 85279 2466 2065 3206 601559 93405 3332 1662 2774 2273 776 614399 1146 601680 2053 575 90340 186580 1507 896 1529 3220 2461 376 114300 2092 256040 137834 94065 59 628 615553 284984 1658 616920 2044 1617 3138 2753 1388 60030 1194 77258 2635 920 1145 267 265000 1154 108145 208250 1106 206920
 

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