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DOID:0110278 - autosomal recessive limb-girdle muscular dystrophy type 2D
Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q.
Synonyms: Alpha-sarcoglycanopathy, DMDA2, Duchenne-like autosomal recessive muscular dystrophy type 2, LGMD2D, muscular dystrophy, limb-girdle, type 2D, primary adhalinopathy,
Echinobase Genes :
MIM:608099 - muscular dystrophy, limb-girdle, type 2d; lgmd2d |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee