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DOID:0110275 - autosomal recessive limb-girdle muscular dystrophy type 2A
Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
Synonyms: LGMD2A, Leyden-Moebius muscular dystrophy, limb-girdle muscular dystrophy due to calpain deficiency, muscular dystrophy, limb-girdle, type 2A, pelvofemoral muscular dystrophy, primary calpainopathy,
Xenbase Genes : capn3
MONDO:0009675 - autosomal recessive limb-girdle muscular dystrophy type 2A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee