Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003560HP:0003560Muscular dystrophy0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0003560HP:0003560Muscular dystrophy0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0003560HP:0003560Muscular dystrophy0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0003560HP:0003560Muscular dystrophy0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0003560HP:0003560Muscular dystrophy0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0003560HP:0003560Muscular dystrophy0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0003560HP:0003560Muscular dystrophy0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent5
HP:0003560HP:0003560Muscular dystrophy0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent76
HP:0003560HP:0003560Muscular dystrophy0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent
HP:0003560HP:0003560Muscular dystrophy0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0003560HP:0003560Muscular dystrophy0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0003560HP:0003560Muscular dystrophy0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0003560HP:0003560Muscular dystrophy0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003560HP:0003560Muscular dystrophy0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent17
HP:0003560HP:0003560Muscular dystrophy0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0003560HP:0003560Muscular dystrophy0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040281 - Very frequent65
HP:0003560HP:0003560Muscular dystrophy0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0003560HP:0003560Muscular dystrophy0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0003560HP:0003560Muscular dystrophy0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040281 - Very frequent442
HP:0003560HP:0003560Muscular dystrophy0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0003560HP:0003560Muscular dystrophy0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040281 - Very frequent478
HP:0003560HP:0003560Muscular dystrophy0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0003560HP:0003560Muscular dystrophy0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040281 - Very frequent702
HP:0003560HP:0003560Muscular dystrophy0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0003560HP:0003560Muscular dystrophy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0003560HP:0003560Muscular dystrophy0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0003560HP:0003560Muscular dystrophy0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003560HP:0003560Muscular dystrophy0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003560HP:0003560Muscular dystrophy0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0003560HP:0003560Muscular dystrophy0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0003560HP:0003560Muscular dystrophy0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0003560HP:0003560Muscular dystrophy0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0003560HP:0003560Muscular dystrophy0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0003560HP:0003560Muscular dystrophy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0003560HP:0003560Muscular dystrophy0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0003560HP:0003560Muscular dystrophy0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0003560HP:0003560Muscular dystrophy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003560HP:0003560Muscular dystrophy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040281 - Very frequent157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0003560HP:0003560Muscular dystrophy0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4.184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003560HP:0003560Muscular dystrophy0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0003560HP:0003560Muscular dystrophy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0003560HP:0003560Muscular dystrophy0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0003560HP:0003560Muscular dystrophy0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.34
HP:0003560HP:0003560Muscular dystrophy0HNRNPA1 CL E G H31785031OMIM:615426Amyotrophic lateral sclerosis 2031
HP:0003560HP:0003560Muscular dystrophy0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003560HP:0003560Muscular dystrophy0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G5
HP:0003560HP:0003560Muscular dystrophy0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0003560HP:0003560Muscular dystrophy0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0003560HP:0003560Muscular dystrophy0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0003560HP:0003560Muscular dystrophy0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003560HP:0003560Muscular dystrophy0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0003560HP:0003560Muscular dystrophy0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6.136
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003560HP:0003560Muscular dystrophy0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0003560HP:0003560Muscular dystrophy0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W.10
HP:0003560HP:0003560Muscular dystrophy0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6HP:0040283 - Occasional7
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive.645
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636ORPHA:300751Familial dilated cardiomyopathy with conduction defect due to LMNA mutationHP:0040283 - Occasional645
HP:0003560HP:0003560Muscular dystrophy0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0003560HP:0003560Muscular dystrophy0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0003560HP:0003560Muscular dystrophy0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040282 - Frequent13
HP:0003560HP:0003560Muscular dystrophy0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0003560HP:0003560Muscular dystrophy0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0003560HP:0003560Muscular dystrophy0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0003560HP:0003560Muscular dystrophy0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0003560HP:0003560Muscular dystrophy0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.33
HP:0003560HP:0003560Muscular dystrophy0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0003560HP:0003560Muscular dystrophy0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003560HP:0003560Muscular dystrophy0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0003560HP:0003560Muscular dystrophy0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H1032913530OMIM:615041MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10.
HP:0003560HP:0003560Muscular dystrophy0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0003560HP:0003560Muscular dystrophy0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003560HP:0003560Muscular dystrophy0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040282 - Frequent1134
HP:0003560HP:0003560Muscular dystrophy0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0003560HP:0003560Muscular dystrophy0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0003560HP:0003560Muscular dystrophy0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0003560HP:0003560Muscular dystrophy0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003560HP:0003560Muscular dystrophy0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0003560HP:0003560Muscular dystrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0003560HP:0003560Muscular dystrophy0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003560HP:0003560Muscular dystrophy0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0003560HP:0003560Muscular dystrophy0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003560HP:0003560Muscular dystrophy0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0003560HP:0003560Muscular dystrophy0SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant.1129
HP:0003560HP:0003560Muscular dystrophy0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0003560HP:0003560Muscular dystrophy0SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant.508
HP:0003560HP:0003560Muscular dystrophy0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003560HP:0003560Muscular dystrophy0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0003560HP:0003560Muscular dystrophy0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0003560HP:0003560Muscular dystrophy0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0003560HP:0003560Muscular dystrophy0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y.10
HP:0003560HP:0003560Muscular dystrophy0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0003560HP:0003560Muscular dystrophy0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0003560HP:0003560Muscular dystrophy0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003560HP:0003560Muscular dystrophy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003560HP:0003560Muscular dystrophy0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent2
HP:0003560HP:0003560Muscular dystrophy0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type.4
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 10.7128
HP:0003560HP:0003560Muscular dystrophy0TTN CL E G H727312403OMIM:600334Tibial muscular dystrophy, tardive.7128
HP:0003560HP:0007081Late-onset muscular dystrophy1 CL E G H
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003560HP:0006785Limb-girdle muscular dystrophy1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0003560HP:0003741Congenital muscular dystrophy1CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0003560HP:0003741Congenital muscular dystrophy1COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0003560HP:0003741Congenital muscular dystrophy1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0003560HP:0003741Congenital muscular dystrophy1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040281 - Very frequent
HP:0003560HP:0006785Limb-girdle muscular dystrophy1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040281 - Very frequent108
HP:0003560HP:0006785Limb-girdle muscular dystrophy1DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003560HP:0006785Limb-girdle muscular dystrophy1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent107
HP:0003560HP:0006785Limb-girdle muscular dystrophy1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent68
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent157
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040281 - Very frequent157
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003560HP:0003741Congenital muscular dystrophy1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040281 - Very frequent184
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0003560HP:0003741Congenital muscular dystrophy1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0003560HP:0003741Congenital muscular dystrophy1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent34
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3.31
HP:0003560HP:0006785Limb-girdle muscular dystrophy1HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0003560HP:0003741Congenital muscular dystrophy1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0003560HP:0003741Congenital muscular dystrophy1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0003560HP:0003741Congenital muscular dystrophy1LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0003560HP:0003741Congenital muscular dystrophy1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0003560HP:0006785Limb-girdle muscular dystrophy1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003560HP:0003741Congenital muscular dystrophy1LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0003560HP:0003741Congenital muscular dystrophy1MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040281 - Very frequent1269
HP:0003560HP:0003741Congenital muscular dystrophy1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent180
HP:0003560HP:0003741Congenital muscular dystrophy1POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0003560HP:0003741Congenital muscular dystrophy1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent18
HP:0003560HP:0003741Congenital muscular dystrophy1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent213
HP:0003560HP:0003741Congenital muscular dystrophy1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040281 - Very frequent213
HP:0003560HP:0003741Congenital muscular dystrophy1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0003560HP:0003741Congenital muscular dystrophy1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0003560HP:0003741Congenital muscular dystrophy1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent221
HP:0003560HP:0003741Congenital muscular dystrophy1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0003560HP:0003741Congenital muscular dystrophy1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003560HP:0006785Limb-girdle muscular dystrophy1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040281 - Very frequent221
HP:0003560HP:0003741Congenital muscular dystrophy1SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040281 - Very frequent144
HP:0003560HP:0006785Limb-girdle muscular dystrophy1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0003560HP:0008970Scapulohumeral muscular dystrophy1SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003560HP:0006785Limb-girdle muscular dystrophy1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent1129
HP:0003560HP:0006785Limb-girdle muscular dystrophy1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent508
HP:0003560HP:0006785Limb-girdle muscular dystrophy1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent171
HP:0003560HP:0006785Limb-girdle muscular dystrophy1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0003560HP:0006785Limb-girdle muscular dystrophy1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0003560HP:0006785Limb-girdle muscular dystrophy1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003560HP:0003741Congenital muscular dystrophy1TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040281 - Very frequent7128


Genes (78) :ACTA1 AHCY ANO5 B3GALNT2 B4GAT1 BAG3 BUB1 BUB1B BUB3 BVES CAPN3 CAV3 CAVIN1 CEP57 CHKB COL12A1 COL4A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DAG1 DMD DNAJB6 DPM1 DPM3 DYSF EMD FHL1 FKRP FKTN FRG1 GK GMPPB HNRNPA1 HNRNPDL INPP5K ITGA7 ITGB4 JAG2 LAMA2 LARGE1 LIMS2 LIPE LMNA MYH7 NPPA NR0B1 PIEZO2 PLEC PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 RYR1 SCN5A SELENON SGCA SGCB SGCD SGCG SIL1 SMCHD1 SYNE1 SYNE2 TCAP TMEM43 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TRIP13 TRIP4 TTN

Diseases (114) :ORPHA:97240 ORPHA:88618 ORPHA:206549 OMIM:613319 OMIM:611307 OMIM:615181 ORPHA:899 OMIM:615287 OMIM:612954 ORPHA:1052 OMIM:616812 ORPHA:267 OMIM:253600 OMIM:123320 OMIM:613327 OMIM:602541 ORPHA:610 OMIM:616470 OMIM:254090 ORPHA:370980 OMIM:614643 OMIM:616052 OMIM:608810 OMIM:613869 ORPHA:280333 OMIM:616538 OMIM:613818 OMIM:310200 OMIM:300376 OMIM:603511 OMIM:608799 ORPHA:79322 ORPHA:263494 OMIM:612937 OMIM:254130 OMIM:253601 ORPHA:98863 ORPHA:370959 ORPHA:34515 OMIM:236670 OMIM:613153 OMIM:606612 OMIM:607155 ORPHA:272 OMIM:253800 OMIM:613152 OMIM:611588 OMIM:158900 OMIM:307030 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:615426 OMIM:615424 OMIM:609115 ORPHA:559 OMIM:613204 ORPHA:158684 OMIM:619566 ORPHA:258 OMIM:607855 OMIM:613154 OMIM:608840 OMIM:616827 OMIM:615980 ORPHA:98853 ORPHA:98855 OMIM:181350 OMIM:616516 ORPHA:300751 OMIM:613205 ORPHA:324604 ORPHA:1344 OMIM:300200 ORPHA:2461 OMIM:226670 OMIM:613723 ORPHA:459033 OMIM:253280 OMIM:613151 OMIM:613157 OMIM:614830 OMIM:615249 OMIM:616094 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:613158 ORPHA:206559 OMIM:615041 ORPHA:98905 OMIM:255320 OMIM:602771 ORPHA:62 OMIM:608099 OMIM:604286 OMIM:601287 OMIM:253700 OMIM:158901 OMIM:612998 OMIM:612999 OMIM:601954 OMIM:614302 OMIM:608423 OMIM:617072 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:254110 OMIM:617066 OMIM:608807 OMIM:600334
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.