Human Phenotype Ontology 
Grandparent Node:
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Abnormal joint morphology (HP:0001367)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Abnormal tendon morphology (HP:0100261)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Abnormality of joint mobility (HP:0011729)help
..Starting node
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Flexion contracture (HP:0001371)help
Term ID: 1371
Name: Flexion contracture
Synonym: Contracture; Contractures; Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints; Joint contracture; Joint contractures
Definition: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Comments:
Reference: HP:0001371
Genes and Diseases:
 
       Child Nodes:
........expandCongenital contracture (HP:0002803) help
................... HP:0002804 Arthrogryposis multiplex congenita
................... HP:0005684 Distal arthrogryposis
................... HP:0005745 Congenital foot contractures
................... HP:0005853 Congenital foot contraction deformities
................... HP:0005879 Congenital finger flexion contractures
........expandMultiple joint contractures (HP:0002828) help
........expandLimb joint contracture (HP:0003121) help
................... HP:0005750 Contractures of the joints of the lower limbs
................... HP:0100360 Contractures of the joints of the upper limbs
........expandDecreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631) help
........expandContractures of the large joints (HP:0005781) help
........expandProgressive flexion contractures (HP:0005876) help
........expandRestricted neck movement due to contractures (HP:0005997) help
........expandFlexion contracture of digit (HP:0030044) help
................... HP:0005830 Flexion contracture of toe
................... HP:0012385 Camptodactyly
................... HP:0012785 Flexion contracture of finger
........expandJoint contractures involving the joints of the feet (HP:0100492) help
................... HP:0005830 Flexion contracture of toe

 Sister Nodes: 
..expandAbnormality of hand joint mobility (HP:0006256) help
..expandJoint hypermobility (HP:0001382) help
..expandJoint laxity (HP:0001388) 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:0001371HP:0001371Flexion contracture0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0001371Flexion contracture0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0001371Flexion contracture0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0001371Flexion contracture0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0001371Flexion contracture0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0001371Flexion contracture0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0001371Flexion contracture0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0001371Flexion contracture0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0001371Flexion contracture0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0001371Flexion contracture0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0001371Flexion contracture0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0001371Flexion contracture0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0001371Flexion contracture0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0001371Flexion contracture0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0001371Flexion contracture0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0001371Flexion contracture0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0001371Flexion contracture0B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0001371Flexion contracture0B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0001371Flexion contracture0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0001371Flexion contracture0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0001371Flexion contracture0B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0001371Flexion contracture0B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0001371Flexion contracture0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0001371Flexion contracture0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0001371Flexion contracture0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0001371Flexion contracture0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0001371Flexion contracture0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0001371Flexion contracture0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0001371Flexion contracture0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0001371Flexion contracture0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0001371Flexion contracture0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0001371Flexion contracture0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0001371Flexion contracture0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0001371Flexion contracture0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0001371Flexion contracture0CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0001371Flexion contracture0CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0001371Flexion contracture0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0001371HP:0001371Flexion contracture0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0001371HP:0001371Flexion contracture0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0001371HP:0001371Flexion contracture0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0001371HP:0001371Flexion contracture0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0001371HP:0001371Flexion contracture0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0001371HP:0001371Flexion contracture0CCN2 CL E G H1490220393ORPHA1222500121009
HP:0001371HP:0001371Flexion contracture0CCN2 CL E G H1490220393ORPHA1242500121009
HP:0001371HP:0001371Flexion contracture0CCR6 CL E G H1235220393ORPHA1481607601835
HP:0001371HP:0001371Flexion contracture0CCR6 CL E G H1235220393ORPHA1491607601835
HP:0001371HP:0001371Flexion contracture0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13161955100690
HP:0001371HP:0001371Flexion contracture0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13571955100690
HP:0001371HP:0001371Flexion contracture0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM13311965100720
HP:0001371HP:0001371Flexion contracture0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM13731965100720
HP:0001371HP:0001371Flexion contracture0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12061967100730
HP:0001371HP:0001371Flexion contracture0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12121967100730
HP:0001371HP:0001371Flexion contracture0CHST3 CL E G H9469263463ORPHA12851971603799
HP:0001371HP:0001371Flexion contracture0CHST3 CL E G H9469263463ORPHA13331971603799
HP:0001371HP:0001371Flexion contracture0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM17052187120290
HP:0001371HP:0001371Flexion contracture0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM19742187120290
HP:0001371HP:0001371Flexion contracture0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM113672188120320
HP:0001371HP:0001371Flexion contracture0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM116782188120320
HP:0001371HP:0001371Flexion contracture0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM113672188120320
HP:0001371HP:0001371Flexion contracture0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM116782188120320
HP:0001371HP:0001371Flexion contracture0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM112132200120140
HP:0001371HP:0001371Flexion contracture0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM115402200120140
HP:0001371HP:0001371Flexion contracture0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0001371HP:0001371Flexion contracture0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0001371HP:0001371Flexion contracture0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0001371HP:0001371Flexion contracture0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0001371HP:0001371Flexion contracture0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0001371HP:0001371Flexion contracture0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H129479408ORPHA116582214120120
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H129479408ORPHA120282214120120
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H129479409ORPHA116582214120120
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H129479409ORPHA120282214120120
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001371HP:0001371Flexion contracture0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001371HP:0001371Flexion contracture0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0001371HP:0001371Flexion contracture0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0001371HP:0001371Flexion contracture0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001371HP:0001371Flexion contracture0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001371HP:0001371Flexion contracture0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0001371HP:0001371Flexion contracture0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0001371HP:0001371Flexion contracture0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0001371HP:0001371Flexion contracture0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0001371HP:0001371Flexion contracture0DMD CL E G H175698896ORPHA156012928300377
HP:0001371HP:0001371Flexion contracture0DMD CL E G H175698896ORPHA163952928300377
HP:0001371HP:0001371Flexion contracture0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0001371HP:0001371Flexion contracture0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0001371HP:0001371Flexion contracture0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM16752974602378
HP:0001371HP:0001371Flexion contracture0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM17662974602378
HP:0001371HP:0001371Flexion contracture0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0001371HP:0001371Flexion contracture0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0001371HP:0001371Flexion contracture0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM119031090113810
HP:0001371HP:0001371Flexion contracture0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM124181090113810
HP:0001371HP:0001371Flexion contracture0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001371HP:0001371Flexion contracture0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001371HP:0001371Flexion contracture0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM117814415605512
HP:0001371HP:0001371Flexion contracture0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM121314415605512
HP:0001371HP:0001371Flexion contracture0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001371HP:0001371Flexion contracture0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001371HP:0001371Flexion contracture0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001371HP:0001371Flexion contracture0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001371HP:0001371Flexion contracture0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0001371HP:0001371Flexion contracture0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0001371HP:0001371Flexion contracture0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0001371HP:0001371Flexion contracture0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200284979ORPHA149683603134797
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200284979ORPHA154573603134797
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM149683603134797
HP:0001371HP:0001371Flexion contracture0FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM154573603134797
HP:0001371HP:0001371Flexion contracture0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM14663689176943
HP:0001371HP:0001371Flexion contracture0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15013689176943
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0001371HP:0001371Flexion contracture0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0001371HP:0001371Flexion contracture0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0001371HP:0001371Flexion contracture0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0001371HP:0001371Flexion contracture0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0001371HP:0001371Flexion contracture0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0001371HP:0001371Flexion contracture0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM113820105610865
HP:0001371HP:0001371Flexion contracture0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM114020105610865
HP:0001371HP:0001371Flexion contracture0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0001371HP:0001371Flexion contracture0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11374006612280
HP:0001371HP:0001371Flexion contracture0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11884006612280
HP:0001371HP:0001371Flexion contracture0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1584019602589
HP:0001371HP:0001371Flexion contracture0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1664019602589
HP:0001371HP:0001371Flexion contracture0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0001371HP:0001371Flexion contracture0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0001371HP:0001371Flexion contracture0GBA CL E G H262977260ORPHA12614177606463
HP:0001371HP:0001371Flexion contracture0GBA CL E G H262977260ORPHA12694177606463
HP:0001371HP:0001371Flexion contracture0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM142315968606598
HP:0001371HP:0001371Flexion contracture0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM144415968606598
HP:0001371HP:0001371Flexion contracture0GDF5 CL E G H8200200700Grebe syndrome200700C0265260OMIM11244220601146
HP:0001371HP:0001371Flexion contracture0GDF5 CL E G H8200200700Grebe syndrome200700C0265260OMIM11494220601146
HP:0001371HP:0001371Flexion contracture0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0001371HP:0001371Flexion contracture0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0001371HP:0001371Flexion contracture0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001371HP:0001371Flexion contracture0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001371HP:0001371Flexion contracture0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1424612138890
HP:0001371HP:0001371Flexion contracture0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1524612138890
HP:0001371HP:0001371Flexion contracture0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001371HP:0001371Flexion contracture0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001371HP:0001371Flexion contracture0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM13526938614908
HP:0001371HP:0001371Flexion contracture0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM14326938614908
HP:0001371HP:0001371Flexion contracture0HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0001371HP:0001371Flexion contracture0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0001371HP:0001371Flexion contracture0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0001371HP:0001371Flexion contracture0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0001371HP:0001371Flexion contracture0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0001371HP:0001371Flexion contracture0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16455389300823
HP:0001371HP:0001371Flexion contracture0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16825389300823
HP:0001371HP:0001371Flexion contracture0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001371HP:0001371Flexion contracture0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001371HP:0001371Flexion contracture0IRF5 CL E G H3663220393ORPHA1396120607218
HP:0001371HP:0001371Flexion contracture0IRF5 CL E G H3663220393ORPHA1406120607218
HP:0001371HP:0001371Flexion contracture0KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0001371HP:0001371Flexion contracture0KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0001371HP:0001371Flexion contracture0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11016267600877
HP:0001371HP:0001371Flexion contracture0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11156267600877
HP:0001371HP:0001371Flexion contracture0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM13120716611729
HP:0001371HP:0001371Flexion contracture0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM14520716611729
HP:0001371HP:0001371Flexion contracture0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0001371HP:0001371Flexion contracture0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0001371HP:0001371Flexion contracture0KRT1 CL E G H384879503ORPHA11426412139350
HP:0001371HP:0001371Flexion contracture0KRT1 CL E G H384879503ORPHA11456412139350
HP:0001371HP:0001371Flexion contracture0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0001371HP:0001371Flexion contracture0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0001371HP:0001371Flexion contracture0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0001371HP:0001371Flexion contracture0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0001371HP:0001371Flexion contracture0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0001371HP:0001371Flexion contracture0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0001371HP:0001371Flexion contracture0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA117828887607844
HP:0001371HP:0001371Flexion contracture0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA124628887607844
HP:0001371HP:0001371Flexion contracture0LEMD3 CL E G H23592166700Dermatofibrosis lenticularis disseminata166700C0265514OMIM117828887607844
HP:0001371HP:0001371Flexion contracture0LEMD3 CL E G H23592166700Dermatofibrosis lenticularis disseminata166700C0265514OMIM124628887607844
HP:0001371HP:0001371Flexion contracture0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM126316429607031
HP:0001371HP:0001371Flexion contracture0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM130916429607031
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000157973ORPHA113476636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000157973ORPHA114866636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM113476636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM114866636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM113476636150330
HP:0001371HP:0001371Flexion contracture0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM114866636150330
HP:0001371HP:0001371Flexion contracture0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM164714450605519
HP:0001371HP:0001371Flexion contracture0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM171514450605519
HP:0001371HP:0001371Flexion contracture0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0001371HP:0001371Flexion contracture0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0001371HP:0001371Flexion contracture0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0001371HP:0001371Flexion contracture0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0001371HP:0001371Flexion contracture0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM194111957300188
HP:0001371HP:0001371Flexion contracture0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1103411957300188
HP:0001371HP:0001371Flexion contracture0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0001371HP:0001371Flexion contracture0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0001371HP:0001371Flexion contracture0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001371HP:0001371Flexion contracture0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001371HP:0001371Flexion contracture0MMP1 CL E G H431279408ORPHA1637155120353
HP:0001371HP:0001371Flexion contracture0MMP1 CL E G H431279408ORPHA1657155120353
HP:0001371HP:0001371Flexion contracture0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0001371HP:0001371Flexion contracture0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0001371HP:0001371Flexion contracture0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0001371HP:0001371Flexion contracture0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0001371HP:0001371Flexion contracture0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0001371HP:0001371Flexion contracture0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0001371HP:0001371Flexion contracture0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0001371HP:0001371Flexion contracture0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110321034611776
HP:0001371HP:0001371Flexion contracture0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110921034611776
HP:0001371HP:0001371Flexion contracture0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0001371HP:0001371Flexion contracture0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0001371HP:0001371Flexion contracture0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM14387739162280
HP:0001371HP:0001371Flexion contracture0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM14897739162280
HP:0001371HP:0001371Flexion contracture0NKX3-2 CL E G H579613330Spondylo-megaepiphyseal-metaphyseal dysplasia613330C2750066OMIM195951602183
HP:0001371HP:0001371Flexion contracture0NKX3-2 CL E G H579613330Spondylo-megaepiphyseal-metaphyseal dysplasia613330C2750066OMIM1121951602183
HP:0001371HP:0001371Flexion contracture0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11388022600417
HP:0001371HP:0001371Flexion contracture0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11488022600417
HP:0001371HP:0001371Flexion contracture0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0001371HP:0001371Flexion contracture0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0001371HP:0001371Flexion contracture0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0001371HP:0001371Flexion contracture0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0001371HP:0001371Flexion contracture0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13108860601757
HP:0001371HP:0001371Flexion contracture0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13638860601757
HP:0001371HP:0001371Flexion contracture0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM167226270613629
HP:0001371HP:0001371Flexion contracture0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM170926270613629
HP:0001371HP:0001371Flexion contracture0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001371HP:0001371Flexion contracture0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001371HP:0001371Flexion contracture0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM1763046605938
HP:0001371HP:0001371Flexion contracture0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11173046605938
HP:0001371HP:0001371Flexion contracture0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0001371HP:0001371Flexion contracture0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0001371HP:0001371Flexion contracture0PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM133559069601282
HP:0001371HP:0001371Flexion contracture0PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM138429069601282
HP:0001371HP:0001371Flexion contracture0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0001371HP:0001371Flexion contracture0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0001371HP:0001371Flexion contracture0PLOD2 CL E G H5352609220Bruck syndrome 2609220C1836602OMIM12119082601865
HP:0001371HP:0001371Flexion contracture0PLOD2 CL E G H5352609220Bruck syndrome 2609220C1836602OMIM12629082601865
HP:0001371HP:0001371Flexion contracture0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13359086300401
HP:0001371HP:0001371Flexion contracture0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13659086300401
HP:0001371HP:0001371Flexion contracture0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0001371HP:0001371Flexion contracture0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0001371HP:0001371Flexion contracture0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM127829175174761
HP:0001371HP:0001371Flexion contracture0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM131249175174761
HP:0001371HP:0001371Flexion contracture0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0001371HP:0001371Flexion contracture0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0001371HP:0001371Flexion contracture0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0001371HP:0001371Flexion contracture0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0001371HP:0001371Flexion contracture0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0001371HP:0001371Flexion contracture0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0001371HP:0001371Flexion contracture0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0001371HP:0001371Flexion contracture0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0001371HP:0001371Flexion contracture0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM19530129602486
HP:0001371HP:0001371Flexion contracture0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM116030129602486
HP:0001371HP:0001371Flexion contracture0POR CL E G H544795699ORPHA12849208124015
HP:0001371HP:0001371Flexion contracture0POR CL E G H544795699ORPHA13599208124015
HP:0001371HP:0001371Flexion contracture0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM12849208124015
HP:0001371HP:0001371Flexion contracture0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM13599208124015
HP:0001371HP:0001371Flexion contracture0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0001371HP:0001371Flexion contracture0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0001371HP:0001371Flexion contracture0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14209325600722
HP:0001371HP:0001371Flexion contracture0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14549325600722
HP:0001371HP:0001371Flexion contracture0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0001371HP:0001371Flexion contracture0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0001371HP:0001371Flexion contracture0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0001371HP:0001371Flexion contracture0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0001371HP:0001371Flexion contracture0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0001371HP:0001371Flexion contracture0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM141017168609275
HP:0001371HP:0001371Flexion contracture0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM144117168609275
HP:0001371HP:0001371Flexion contracture0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM15121863612074
HP:0001371HP:0001371Flexion contracture0RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0001371HP:0001371Flexion contracture0RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0001371HP:0001371Flexion contracture0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM132915925606754
HP:0001371HP:0001371Flexion contracture0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM145415925606754
HP:0001371HP:0001371Flexion contracture0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0001371HP:0001371Flexion contracture0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0001371HP:0001371Flexion contracture0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0001371HP:0001371Flexion contracture0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0001371HP:0001371Flexion contracture0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0001371HP:0001371Flexion contracture0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0001371HP:0001371Flexion contracture0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0001371HP:0001371Flexion contracture0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0001371HP:0001371Flexion contracture0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM142210805600119
HP:0001371HP:0001371Flexion contracture0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM147410805600119
HP:0001371HP:0001371Flexion contracture0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0001371HP:0001371Flexion contracture0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0001371HP:0001371Flexion contracture0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM120624624608005
HP:0001371HP:0001371Flexion contracture0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM121724624608005
HP:0001371HP:0001371Flexion contracture0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM163310914604878
HP:0001371HP:0001371Flexion contracture0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM171810914604878
HP:0001371HP:0001371Flexion contracture0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0001371HP:0001371Flexion contracture0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0001371HP:0001371Flexion contracture0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0001371HP:0001371Flexion contracture0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0001371HP:0001371Flexion contracture0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM112014409606521
HP:0001371HP:0001371Flexion contracture0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM112914409606521
HP:0001371HP:0001371Flexion contracture0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM123825198610826
HP:0001371HP:0001371Flexion contracture0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM127425198610826
HP:0001371HP:0001371Flexion contracture0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM139213444606145
HP:0001371HP:0001371Flexion contracture0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM142413444606145
HP:0001371HP:0001371Flexion contracture0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM113620858608736
HP:0001371HP:0001371Flexion contracture0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM115120858608736
HP:0001371HP:0001371Flexion contracture0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM144711079300231
HP:0001371HP:0001371Flexion contracture0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM148711079300231
HP:0001371HP:0001371Flexion contracture0SMARCAD1 CL E G H56916129200Basan syndrome129200C0406707OMIM15618398612761
HP:0001371HP:0001371Flexion contracture0SMARCAD1 CL E G H56916129200Basan syndrome129200C0406707OMIM15818398612761
HP:0001371HP:0001371Flexion contracture0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM112711132600322
HP:0001371HP:0001371Flexion contracture0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM114811132600322
HP:0001371HP:0001371Flexion contracture0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM132211183182465
HP:0001371HP:0001371Flexion contracture0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM141911183182465
HP:0001371HP:0001371Flexion contracture0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM121518514607111
HP:0001371HP:0001371Flexion contracture0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM124618514607111
HP:0001371HP:0001371Flexion contracture0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM112928423615521
HP:0001371HP:0001371Flexion contracture0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM116028423615521
HP:0001371HP:0001371Flexion contracture0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM115626887612758
HP:0001371HP:0001371Flexion contracture0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM119026887612758
HP:0001371HP:0001371Flexion contracture0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM113516133611663
HP:0001371HP:0001371Flexion contracture0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM114216133611663
HP:0001371HP:0001371Flexion contracture0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM123412011190990
HP:0001371HP:0001371Flexion contracture0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM124212011190990
HP:0001371HP:0001371Flexion contracture0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM126112012191030
HP:0001371HP:0001371Flexion contracture0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM128312012191030
HP:0001371HP:0001371Flexion contracture0TRPV3 CL E G H162514614594Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques614594C2609071OMIM132918084607066
HP:0001371HP:0001371Flexion contracture0TRPV3 CL E G H162514614594Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques614594C2609071OMIM133718084607066
HP:0001371HP:0001371Flexion contracture0TRPV4 CL E G H59341168400Parastremmatic dwarfism168400C1868616OMIM170318083605427
HP:0001371HP:0001371Flexion contracture0TRPV4 CL E G H59341168400Parastremmatic dwarfism168400C1868616OMIM178118083605427
HP:0001371HP:0001371Flexion contracture0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11798412403188840
HP:0001371HP:0001371Flexion contracture0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11902812403188840
HP:0001371HP:0001371Flexion contracture0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0001371HP:0001371Flexion contracture0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0001371HP:0001371Flexion contracture0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM17214583608549
HP:0001371HP:0001371Flexion contracture0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM110514583608549
HP:0001371HP:0001371Flexion contracture0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM19718179610034
HP:0001371HP:0001371Flexion contracture0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM113618179610034
HP:0001371HP:0001371Flexion contracture0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM129825608615850
HP:0001371HP:0001371Flexion contracture0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM130425608615850
HP:0001371HP:0001371Flexion contracture0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM114912877606480
HP:0001371HP:0001371Flexion contracture0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM116712877606480
HP:0001371HP:0001371Flexion contracture0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0001371HP:0001371Flexion contracture0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0001371HP:0033333Jaw contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0033333Jaw contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0005997Restricted neck movement due to contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0005997Restricted neck movement due to contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0002803Congenital contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0002803Congenital contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0005781Contractures of the large joints1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0005781Contractures of the large joints1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0030044Flexion contracture of digit1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0030044Flexion contracture of digit1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0003121Limb joint contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0003121Limb joint contracture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0002828Multiple joint contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0002828Multiple joint contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0005876Progressive flexion contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001371HP:0005876Progressive flexion contractures1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001371HP:0033333Jaw contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0033333Jaw contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0005997Restricted neck movement due to contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0005997Restricted neck movement due to contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0002803Congenital contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0002803Congenital contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0005781Contractures of the large joints1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0005781Contractures of the large joints1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0030044Flexion contracture of digit1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0030044Flexion contracture of digit1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0003121Limb joint contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0003121Limb joint contracture1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0002828Multiple joint contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0002828Multiple joint contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0005876Progressive flexion contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001371HP:0005876Progressive flexion contractures1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001371HP:0033333Jaw contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0033333Jaw contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0005997Restricted neck movement due to contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0005997Restricted neck movement due to contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0002803Congenital contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0002803Congenital contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0005781Contractures of the large joints1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0005781Contractures of the large joints1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0030044Flexion contracture of digit1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0030044Flexion contracture of digit1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0003121Limb joint contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0003121Limb joint contracture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0002828Multiple joint contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0002828Multiple joint contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0005876Progressive flexion contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001371HP:0005876Progressive flexion contractures1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001371HP:0033333Jaw contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0033333Jaw contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0005997Restricted neck movement due to contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0005997Restricted neck movement due to contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0002803Congenital contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0002803Congenital contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0005781Contractures of the large joints1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0005781Contractures of the large joints1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0030044Flexion contracture of digit1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0030044Flexion contracture of digit1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0003121Limb joint contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0003121Limb joint contracture1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0002828Multiple joint contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0002828Multiple joint contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0005876Progressive flexion contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001371HP:0005876Progressive flexion contractures1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001371HP:0033333Jaw contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0033333Jaw contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0002803Congenital contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0002803Congenital contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0005781Contractures of the large joints1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0005781Contractures of the large joints1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0030044Flexion contracture of digit1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0030044Flexion contracture of digit1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0003121Limb joint contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0003121Limb joint contracture1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0002828Multiple joint contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0002828Multiple joint contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0005876Progressive flexion contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001371HP:0005876Progressive flexion contractures1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001371HP:0033333Jaw contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0033333Jaw contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0002803Congenital contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0002803Congenital contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0005781Contractures of the large joints1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0005781Contractures of the large joints1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0030044Flexion contracture of digit1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0030044Flexion contracture of digit1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0003121Limb joint contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0003121Limb joint contracture1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0002828Multiple joint contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0002828Multiple joint contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0005876Progressive flexion contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001371HP:0005876Progressive flexion contractures1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001371HP:0033333Jaw contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0033333Jaw contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0005997Restricted neck movement due to contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0100492Joint contractures involving the joints of the feet1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0002803Congenital contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0002803Congenital contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0005781Contractures of the large joints1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0005781Contractures of the large joints1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0030044Flexion contracture of digit1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0030044Flexion contracture of digit1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0003121Limb joint contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0003121Limb joint contracture1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0002828Multiple joint contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0002828Multiple joint contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0005876Progressive flexion contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001371HP:0005876Progressive flexion contractures1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001371HP:0033333Jaw contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0033333Jaw contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0005997Restricted neck movement due to contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0005997Restricted neck movement due to contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0100492Joint contractures involving the joints of the feet1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0002803Congenital contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0002803Congenital contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0005781Contractures of the large joints1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0005781Contractures of the large joints1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0030044Flexion contracture of digit1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0030044Flexion contracture of digit1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0003121Limb joint contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0003121Limb joint contracture1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0002828Multiple joint contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0002828Multiple joint contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0005876Progressive flexion contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001371HP:0005876Progressive flexion contractures1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001371HP:0033333Jaw contracture1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0033333Jaw contracture1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0005997Restricted neck movement due to contractures1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0005997Restricted neck movement due to contractures1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0002803Congenital contracture1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0002803Congenital contracture1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0005781Contractures of the large joints1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0005781Contractures of the large joints1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0030044Flexion contracture of digit1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0030044Flexion contracture of digit1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0003121Limb joint contracture1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0003121Limb joint contracture1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0002828Multiple joint contractures1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0002828Multiple joint contractures1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0005876Progressive flexion contractures1B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001371HP:0005876Progressive flexion contractures1B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001371HP:0033333Jaw contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0033333Jaw contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0005997Restricted neck movement due to contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0005997Restricted neck movement due to contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0002803Congenital contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0002803Congenital contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0005781Contractures of the large joints1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0005781Contractures of the large joints1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0030044Flexion contracture of digit1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0030044Flexion contracture of digit1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0003121Limb joint contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0003121Limb joint contracture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0002828Multiple joint contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0002828Multiple joint contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0005876Progressive flexion contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001371HP:0005876Progressive flexion contractures1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001371HP:0033333Jaw contracture1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0033333Jaw contracture1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0005997Restricted neck movement due to contractures1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0005997Restricted neck movement due to contractures1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0100492Joint contractures involving the joints of the feet1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0002803Congenital contracture1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0002803Congenital contracture1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0005781Contractures of the large joints1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0005781Contractures of the large joints1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0030044Flexion contracture of digit1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0030044Flexion contracture of digit1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0003121Limb joint contracture1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0003121Limb joint contracture1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0002828Multiple joint contractures1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0002828Multiple joint contractures1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0005876Progressive flexion contractures1B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001371HP:0005876Progressive flexion contractures1B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001371HP:0033333Jaw contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0033333Jaw contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0005997Restricted neck movement due to contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0005997Restricted neck movement due to contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0002803Congenital contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0002803Congenital contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0005781Contractures of the large joints1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0005781Contractures of the large joints1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0030044Flexion contracture of digit1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0030044Flexion contracture of digit1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0003121Limb joint contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0003121Limb joint contracture1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0002828Multiple joint contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0002828Multiple joint contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0005876Progressive flexion contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0001371HP:0005876Progressive flexion contractures1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0001371HP:0033333Jaw contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0033333Jaw contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0005997Restricted neck movement due to contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0005997Restricted neck movement due to contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0002803Congenital contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0002803Congenital contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0005781Contractures of the large joints1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0005781Contractures of the large joints1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0030044Flexion contracture of digit1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0030044Flexion contracture of digit1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0003121Limb joint contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0003121Limb joint contracture1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0002828Multiple joint contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0002828Multiple joint contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0005876Progressive flexion contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001371HP:0005876Progressive flexion contractures1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001371HP:0033333Jaw contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0033333Jaw contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0005997Restricted neck movement due to contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0005997Restricted neck movement due to contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0002803Congenital contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0002803Congenital contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0005781Contractures of the large joints1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0005781Contractures of the large joints1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0030044Flexion contracture of digit1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0030044Flexion contracture of digit1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0003121Limb joint contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0003121Limb joint contracture1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0002828Multiple joint contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0002828Multiple joint contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0005876Progressive flexion contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001371HP:0005876Progressive flexion contractures1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001371HP:0033333Jaw contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0033333Jaw contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0005997Restricted neck movement due to contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0005997Restricted neck movement due to contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0100492Joint contractures involving the joints of the feet1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0002803Congenital contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0002803Congenital contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0005781Contractures of the large joints1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0005781Contractures of the large joints1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0030044Flexion contracture of digit1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0030044Flexion contracture of digit1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0003121Limb joint contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0003121Limb joint contracture1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0002828Multiple joint contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0002828Multiple joint contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0005876Progressive flexion contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001371HP:0005876Progressive flexion contractures1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001371HP:0033333Jaw contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0033333Jaw contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0005997Restricted neck movement due to contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0005997Restricted neck movement due to contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0002803Congenital contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0002803Congenital contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0005781Contractures of the large joints1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0005781Contractures of the large joints1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0030044Flexion contracture of digit1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0030044Flexion contracture of digit1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0003121Limb joint contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0003121Limb joint contracture1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0002828Multiple joint contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0002828Multiple joint contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0005876Progressive flexion contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001371HP:0005876Progressive flexion contractures1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001371HP:0033333Jaw contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0033333Jaw contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0005997Restricted neck movement due to contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0005997Restricted neck movement due to contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0002803Congenital contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0002803Congenital contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0005781Contractures of the large joints1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0005781Contractures of the large joints1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0030044Flexion contracture of digit1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0030044Flexion contracture of digit1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0003121Limb joint contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0003121Limb joint contracture1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0002828Multiple joint contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0002828Multiple joint contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0005876Progressive flexion contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0001371HP:0005876Progressive flexion contractures1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0001371HP:0033333Jaw contracture1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0033333Jaw contracture1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0005997Restricted neck movement due to contractures1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0005997Restricted neck movement due to contractures1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0100492Joint contractures involving the joints of the feet1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0002803Congenital contracture1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0002803Congenital contracture1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0005781Contractures of the large joints1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0005781Contractures of the large joints1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CAV1 CL E G H857220393ORPHA1811527601047
HP:0001371HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles1CAV1 CL E G H857220393ORPHA1851527601047
HP:0001371HP:0030044Flexion contracture of digit1CAV1 CL