autosomal recessive limb-girdle muscular dystrophy type 2A

Summary

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: Leyden-Moebius muscular dystrophy, LGMD2A, limb-girdle muscular dystrophy due to calpain deficiency, muscular dystrophy, limb-girdle, type 2A, pelvofemoral muscular dystrophy, primary calpainopathy

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: capn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009675 - autosomal recessive limb-girdle muscular dystrophy type 2A

MONDO:0009675 - autosomal recessive limb-girdle muscular dystrophy type 2A

MIM:

MIM:253600 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

MIM:253600 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)