Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
..expand
Muscular dystrophy (HP:0003560)help
Term ID: 3560
Name: Muscular dystrophy
Synonym: Muscle biopsy shows dystrophic changes
Definition: The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Comments:
Reference: HP:0003560
Genes and Diseases:
 
       Child Nodes:
........expandCongenital muscular dystrophy (HP:0003741) help
........expandLimb-girdle muscular dystrophy (HP:0006785) help
........expandLate-onset muscular dystrophy (HP:0007081) help
........expandScapulohumeral muscular dystrophy (HP:0008970) help

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003560HP:0003560Muscular dystrophy0AHCY CL E G H19188618ORPHA1113343180960
HP:0003560HP:0003560Muscular dystrophy0AHCY CL E G H19188618ORPHA1126343180960
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003560HP:0003560Muscular dystrophy0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003560HP:0003560Muscular dystrophy0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003560HP:0003560Muscular dystrophy0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0003560HP:0003560Muscular dystrophy0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0003560HP:0003560Muscular dystrophy0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0003560HP:0003560Muscular dystrophy0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0003560HP:0003560Muscular dystrophy0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0003560HP:0003560Muscular dystrophy0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003560HP:0003560Muscular dystrophy0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003560HP:0003560Muscular dystrophy0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003560HP:0003560Muscular dystrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003560HP:0003560Muscular dystrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003560HP:0003560Muscular dystrophy0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0003560HP:0003560Muscular dystrophy0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0003560HP:0003560Muscular dystrophy0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003560HP:0003560Muscular dystrophy0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003560HP:0003560Muscular dystrophy0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA116782188120320
HP:0003560HP:0003560Muscular dystrophy0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA113672188120320
HP:0003560HP:0003560Muscular dystrophy0COL4A1 CL E G H1282899ORPHA110102202120130
HP:0003560HP:0003560Muscular dystrophy0COL4A1 CL E G H1282899ORPHA18372202120130
HP:0003560HP:0003560Muscular dystrophy0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA112192211120220
HP:0003560HP:0003560Muscular dystrophy0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113422211120220
HP:0003560HP:0003560Muscular dystrophy0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA115122212120240
HP:0003560HP:0003560Muscular dystrophy0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA113702212120240
HP:0003560HP:0003560Muscular dystrophy0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA119712213120250
HP:0003560HP:0003560Muscular dystrophy0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA122332213120250
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605899ORPHA14672666128239
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605899ORPHA13762666128239
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003560HP:0003560Muscular dystrophy0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003560HP:0003560Muscular dystrophy0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003560HP:0003560Muscular dystrophy0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003560HP:0003560Muscular dystrophy0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914734515ORPHA157217997606596
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H79147899ORPHA157217997606596
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914734515ORPHA167117997606596
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H79147899ORPHA167117997606596
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218899ORPHA16793622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218899ORPHA15993622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0003560HP:0003560Muscular dystrophy0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0003560HP:0003560Muscular dystrophy0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003560HP:0003560Muscular dystrophy0HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1605031164017
HP:0003560HP:0003560Muscular dystrophy0HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1595031164017
HP:0003560HP:0003560Muscular dystrophy0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003560HP:0003560Muscular dystrophy0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003560HP:0003560Muscular dystrophy0INPP5K CL E G H51763559ORPHA115333882607875
HP:0003560HP:0003560Muscular dystrophy0INPP5K CL E G H51763559ORPHA114533882607875
HP:0003560HP:0003560Muscular dystrophy0ISPD CL E G H729920899ORPHA154537276614631
HP:0003560HP:0003560Muscular dystrophy0ISPD CL E G H729920899ORPHA154937276614631
HP:0003560HP:0003560Muscular dystrophy0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003560HP:0003560Muscular dystrophy0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003560HP:0003560Muscular dystrophy0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003560HP:0003560Muscular dystrophy0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215899ORPHA15166511603590
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215899ORPHA15976511603590
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003560HP:0003560Muscular dystrophy0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003560HP:0003560Muscular dystrophy0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H4000264ORPHA113476636150330
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H4000264ORPHA114866636150330
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003560HP:0003560Muscular dystrophy0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12967960300473
HP:0003560HP:0003560Muscular dystrophy0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12867960300473
HP:0003560HP:0003560Muscular dystrophy0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003560HP:0003560Muscular dystrophy0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003560HP:0003560Muscular dystrophy0PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0003560HP:0003560Muscular dystrophy0PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM138429069601282
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM133559069601282
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624899ORPHA179719139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624899ORPHA166219139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM166219139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM179719139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H84892899ORPHA126725902614828
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H84892899ORPHA132225902614828
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM132225902614828
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM126725902614828
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197899ORPHA122426267615247
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197899ORPHA119226267615247
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM122426267615247
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM119226267615247
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585899ORPHA16099202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585899ORPHA16869202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954899ORPHA169119743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954899ORPHA160419743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM169119743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM160419743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003560HP:0003560Muscular dystrophy0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA139919129610936
HP:0003560HP:0003560Muscular dystrophy0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA135619129610936
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H10329899ORPHA115913530605862
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H10329899ORPHA119413530605862
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H10329615041Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10615041C3554381OMIM119413530605862
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H10329615041Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10615041C3554381OMIM115913530605862
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H626198905ORPHA1460410483180901
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H626198905ORPHA1410110483180901
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1410110483180901
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1460410483180901
HP:0003560HP:0003560Muscular dystrophy0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0003560HP:0003560Muscular dystrophy0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0003560HP:0003560Muscular dystrophy0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003560HP:0003560Muscular dystrophy0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003560HP:0003560Muscular dystrophy0SGCB CL E G H6443604286Limb-girdle muscular dystrophy, type 2E604286C1858593OMIM137410806600900
HP:0003560HP:0003560Muscular dystrophy0SGCB CL E G H6443604286Limb-girdle muscular dystrophy, type 2E604286C1858593OMIM132710806600900
HP:0003560HP:0003560Muscular dystrophy0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM151010807601411
HP:0003560HP:0003560Muscular dystrophy0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM154610807601411
HP:0003560HP:0003560Muscular dystrophy0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0003560HP:0003560Muscular dystrophy0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0003560HP:0003560Muscular dystrophy0SIL1 CL E G H64374559ORPHA120624624608005
HP:0003560HP:0003560Muscular dystrophy0SIL1 CL E G H64374559ORPHA121724624608005
HP:0003560HP:0003560Muscular dystrophy0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1417017089608441
HP:0003560HP:0003560Muscular dystrophy0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1364117089608441
HP:0003560HP:0003560Muscular dystrophy0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1187517084608442
HP:0003560HP:0003560Muscular dystrophy0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1222217084608442
HP:0003560HP:0003560Muscular dystrophy0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM122611610604488
HP:0003560HP:0003560Muscular dystrophy0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM120011610604488
HP:0003560HP:0003560Muscular dystrophy0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM165328472612048
HP:0003560HP:0003560Muscular dystrophy0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM158528472612048
HP:0003560HP:0003560Muscular dystrophy0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM137217103610032
HP:0003560HP:0003560Muscular dystrophy0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM132317103610032
HP:0003560HP:0003560Muscular dystrophy0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM125929456614512
HP:0003560HP:0003560Muscular dystrophy0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM131029456614512
HP:0003560HP:0003560Muscular dystrophy0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003560HP:0003560Muscular dystrophy0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003560HP:0003560Muscular dystrophy0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121312307604507
HP:0003560HP:0003560Muscular dystrophy0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121912307604507
HP:0003560HP:0003560Muscular dystrophy0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113112310604501
HP:0003560HP:0003560Muscular dystrophy0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM112112310604501
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11902812403188840
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11798412403188840
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11902812403188840
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11798412403188840
HP:0003560HP:0006785Limb-girdle muscular dystrophy1AHCY CL E G H19188618ORPHA1113343180960
HP:0003560HP:0007081Late-onset muscular dystrophy1AHCY CL E G H19188618ORPHA1113343180960
HP:0003560HP:0003741Congenital muscular dystrophy1AHCY CL E G H19188618ORPHA1126343180960
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1AHCY CL E G H19188618ORPHA1126343180960
HP:0003560HP:0003741Congenital muscular dystrophy1AHCY CL E G H19188618ORPHA1113343180960
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1AHCY CL E G H19188618ORPHA1113343180960
HP:0003560HP:0006785Limb-girdle muscular dystrophy1AHCY CL E G H19188618ORPHA1126343180960
HP:0003560HP:0007081Late-onset muscular dystrophy1AHCY CL E G H19188618ORPHA1126343180960
HP:0003560HP:0003741Congenital muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003560HP:0007081Late-onset muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003560HP:0007081Late-onset muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003560HP:0003741Congenital muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003560HP:0007081Late-onset muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003560HP:0003741Congenital muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003560HP:0003741Congenital muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003560HP:0007081Late-onset muscular dystrophy1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0003560HP:0003741Congenital muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0003560HP:0007081Late-onset muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0003560HP:0007081Late-onset muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0003560HP:0003741Congenital muscular dystrophy1B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003560HP:0007081Late-onset muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003560HP:0007081Late-onset muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003560HP:0003741Congenital muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003560HP:0003741Congenital muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0003560HP:0007081Late-onset muscular dystrophy1B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0003560HP:0003741Congenital muscular dystrophy1B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0003560HP:0003741Congenital muscular dystrophy1B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0003560HP:0007081Late-onset muscular dystrophy1B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003560HP:0007081Late-onset muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003560HP:0006785Limb-girdle muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003560HP:0007081Late-onset muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003560HP:0003741Congenital muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003560HP:0003741Congenital muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003560HP:0007081Late-onset muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003560HP:0003741Congenital muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003560HP:0003741Congenital muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003560HP:0007081Late-onset muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003560HP:0003741Congenital muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0003560HP:0007081Late-onset muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0003560HP:0007081Late-onset muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0003560HP:0003741Congenital muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0003560HP:0007081Late-onset muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0003560HP:0003741Congenital muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0003560HP:0003741Congenital muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0003560HP:0007081Late-onset muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0003560HP:0007081Late-onset muscular dystrophy1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0003560HP:0003741Congenital muscular dystrophy1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0003560HP:0003741Congenital muscular dystrophy1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003560HP:0006785Limb-girdle muscular dystrophy1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003560HP:0007081Late-onset muscular dystrophy1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003560HP:0003741Congenital muscular dystrophy1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003560HP:0007081Late-onset muscular dystrophy1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003560HP:0007081Late-onset muscular dystrophy1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003560HP:0003741Congenital muscular dystrophy1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003560HP:0003741Congenital muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003560HP:0007081Late-onset muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003560HP:0007081Late-onset muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003560HP:0003741Congenital muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003560HP:0007081Late-onset muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003560HP:0003741Congenital muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003560HP:0003741Congenital muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003560HP:0007081Late-onset muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003560HP:0003741Congenital muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003560HP:0007081Late-onset muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003560HP:0007081Late-onset muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003560HP:0003741Congenital muscular dystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0003560HP:0007081Late-onset muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0003560HP:0007081Late-onset muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0003560HP:0003741Congenital muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0003560HP:0003741Congenital muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003560HP:0007081Late-onset muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003560HP:0003741Congenital muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003560HP:0003741Congenital muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003560HP:0007081Late-onset muscular dystrophy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003560HP:0003741Congenital muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA113672188120320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA113672188120320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA116782188120320
HP:0003560HP:0007081Late-onset muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA116782188120320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA113672188120320
HP:0003560HP:0007081Late-onset muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA113672188120320
HP:0003560HP:0003741Congenital muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA116782188120320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA116782188120320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL4A1 CL E G H1282899ORPHA18372202120130
HP:0003560HP:0003741Congenital muscular dystrophy1COL4A1 CL E G H1282899ORPHA18372202120130
HP:0003560HP:0007081Late-onset muscular dystrophy1COL4A1 CL E G H1282899ORPHA110102202120130
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL4A1 CL E G H1282899ORPHA110102202120130
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL4A1 CL E G H1282899ORPHA18372202120130
HP:0003560HP:0007081Late-onset muscular dystrophy1COL4A1 CL E G H1282899ORPHA18372202120130
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL4A1 CL E G H1282899ORPHA110102202120130
HP:0003560HP:0003741Congenital muscular dystrophy1COL4A1 CL E G H1282899ORPHA110102202120130
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA112192211120220
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA112192211120220
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113422211120220
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113422211120220
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA112192211120220
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA112192211120220
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113422211120220
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA113422211120220
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA113702212120240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA113702212120240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA115122212120240
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA115122212120240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA113702212120240
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA113702212120240
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA115122212120240
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA115122212120240
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA119712213120250
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA119712213120250
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA122332213120250
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA122332213120250
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA119712213120250
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA119712213120250
HP:0003560HP:0006785Limb-girdle muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA122332213120250
HP:0003560HP:0007081Late-onset muscular dystrophy1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA122332213120250
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003560HP:0007081Late-onset muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003560HP:0003741Congenital muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003560HP:0003741Congenital muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003560HP:0007081Late-onset muscular dystrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003560HP:0007081Late-onset muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003560HP:0003741Congenital muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003560HP:0003741Congenital muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003560HP:0007081Late-onset muscular dystrophy1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605899ORPHA13762666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605899ORPHA13762666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605899ORPHA14672666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605899ORPHA14672666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605899ORPHA13762666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605899ORPHA13762666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605899ORPHA14672666128239
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605899ORPHA14672666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003560HP:0003741Congenital muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003560HP:0007081Late-onset muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003560HP:0007081Late-onset muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003560HP:0003741Congenital muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003560HP:0003741Congenital muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003560HP:0007081Late-onset muscular dystrophy1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003560HP:0007081Late-onset muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003560HP:0003741Congenital muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003560HP:0003741Congenital muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003560HP:0007081Late-onset muscular dystrophy1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003560HP:0007081Late-onset muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003560HP:0003741Congenital muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003560HP:0003741Congenital muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003560HP:0007081Late-onset muscular dystrophy1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003560HP:0003741Congenital muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003560HP:0003741Congenital muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003560HP:0003741Congenital muscular dystrophy1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003560HP:0003741Congenital muscular dystrophy1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003560HP:0003741Congenital muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003560HP:0007081Late-onset muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003560HP:0003741Congenital muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003560HP:0007081Late-onset muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003560HP:0003741Congenital muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003560HP:0003741Congenital muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003560HP:0007081Late-onset muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003560HP:0003741Congenital muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003560HP:0007081Late-onset muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003560HP:0007081Late-onset muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003560HP:0003741Congenital muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H79147899ORPHA157217997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H79147899ORPHA157217997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H79147899ORPHA167117997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H79147899ORPHA167117997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H79147899ORPHA157217997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H79147899ORPHA157217997606596
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H79147899ORPHA167117997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H79147899ORPHA167117997606596
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003560HP:0007081Late-onset muscular dystrophy1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218899ORPHA15993622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218899ORPHA15993622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218899ORPHA16793622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218899ORPHA16793622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218899ORPHA15993622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218899ORPHA15993622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218899ORPHA16793622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218899ORPHA16793622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0003560HP:0007081Late-onset muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0003560HP:0003741Congenital muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0003560HP:0007081Late-onset muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0003560HP:0007081Late-onset muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0003560HP:0003741Congenital muscular dystrophy1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003560HP:0006785Limb-girdle muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003560HP:0007081Late-onset muscular dystrophy1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1605031164017
HP:0003560HP:0003741Congenital muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1605031164017
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1595031164017
HP:0003560HP:0003741Congenital muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1595031164017
HP:0003560HP:0007081Late-onset muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1605031164017
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1605031164017
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1595031164017
HP:0003560HP:0007081Late-onset muscular dystrophy1HNRNPA1 CL E G H3178615426Amyotrophic lateral sclerosis 20615426C3715156OMIM1595031164017
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003560HP:0007081Late-onset muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003560HP:0007081Late-onset muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003560HP:0003741Congenital muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003560HP:0003741Congenital muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003560HP:0003741Congenital muscular dystrophy1INPP5K CL E G H51763559ORPHA114533882607875
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1INPP5K CL E G H51763559ORPHA114533882607875
HP:0003560HP:0006785Limb-girdle muscular dystrophy1INPP5K CL E G H51763559ORPHA115333882607875
HP:0003560HP:0007081Late-onset muscular dystrophy1INPP5K CL E G H51763559ORPHA115333882607875
HP:0003560HP:0006785Limb-girdle muscular dystrophy1INPP5K CL E G H51763559ORPHA114533882607875
HP:0003560HP:0007081Late-onset muscular dystrophy1INPP5K CL E G H51763559ORPHA114533882607875
HP:0003560HP:0003741Congenital muscular dystrophy1INPP5K CL E G H51763559ORPHA115333882607875
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1INPP5K CL E G H51763559ORPHA115333882607875
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ISPD CL E G H729920899ORPHA154537276614631
HP:0003560HP:0007081Late-onset muscular dystrophy1ISPD CL E G H729920899ORPHA154537276614631
HP:0003560HP:0003741Congenital muscular dystrophy1ISPD CL E G H729920899ORPHA154937276614631
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ISPD CL E G H729920899ORPHA154937276614631
HP:0003560HP:0003741Congenital muscular dystrophy1ISPD CL E G H729920899ORPHA154537276614631
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ISPD CL E G H729920899ORPHA154537276614631
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ISPD CL E G H729920899ORPHA154937276614631
HP:0003560HP:0007081Late-onset muscular dystrophy1ISPD CL E G H729920899ORPHA154937276614631
HP:0003560HP:0003741Congenital muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003560HP:0003741Congenital muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003560HP:0007081Late-onset muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003560HP:0007081Late-onset muscular dystrophy1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003560HP:0007081Late-onset muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003560HP:0003741Congenital muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003560HP:0003741Congenital muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003560HP:0007081Late-onset muscular dystrophy1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215899ORPHA15166511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215899ORPHA15166511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215899ORPHA15976511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215899ORPHA15976511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215899ORPHA15166511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215899ORPHA15166511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215899ORPHA15976511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215899ORPHA15976511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003560HP:0007081Late-onset muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003560HP:0007081Late-onset muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003560HP:0003741Congenital muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003560HP:0003741Congenital muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003560HP:0007081Late-onset muscular dystrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003560HP:0007081Late-onset muscular dystrophy1LMNA CL E G H4000264ORPHA113476636150330
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H4000264ORPHA113476636150330
HP:0003560HP:0003741Congenital muscular dystrophy1LMNA CL E G H4000264ORPHA114866636150330
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LMNA CL E G H4000264ORPHA114866636150330
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LMNA CL E G H4000264ORPHA113476636150330
HP:0003560HP:0003741Congenital muscular dystrophy1LMNA CL E G H4000264ORPHA113476636150330
HP:0003560HP:0007081Late-onset muscular dystrophy1LMNA CL E G H4000264ORPHA114866636150330
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H4000264ORPHA114866636150330
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003560HP:0007081Late-onset muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003560HP:0007081Late-onset muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003560HP:0003741Congenital muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003560HP:0003741Congenital muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003560HP:0003741Congenital muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12867960300473
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12867960300473
HP:0003560HP:0006785Limb-girdle muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12967960300473
HP:0003560HP:0007081Late-onset muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12967960300473
HP:0003560HP:0006785Limb-girdle muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12867960300473
HP:0003560HP:0007081Late-onset muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12867960300473
HP:0003560HP:0003741Congenital muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12967960300473
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12967960300473
HP:0003560HP:0006785Limb-girdle muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003560HP:0007081Late-onset muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003560HP:0003741Congenital muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003560HP:0003741Congenital muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003560HP:0006785Limb-girdle muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003560HP:0007081Late-onset muscular dystrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003560HP:0003741Congenital muscular dystrophy1PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0003560HP:0006785Limb-girdle muscular dystrophy1PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0003560HP:0007081Late-onset muscular dystrophy1PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0003560HP:0006785Limb-girdle muscular dystrophy1PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0003560HP:0007081Late-onset muscular dystrophy1PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0003560HP:0003741Congenital muscular dystrophy1PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0003560HP:0003741Congenital muscular dystrophy1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM133559069601282
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1PLEC CL E