autosomal recessive limb-girdle muscular dystrophy type 2C

Summary

DOID:0110277 - autosomal recessive limb-girdle muscular dystrophy type 2C

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

Synonyms: autosomal recessive Duchenne-like muscular dystrophy type 1, deficiency of sarcoglycan gamma, DMDA1, gamma-sarcoglycanopathy, LGMD2C, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Maghrebian myopathy, muscular dystrophy, limb-girdle, type 2C, SCARMD, severe childhood autosomal recessive muscular dystrophy North African type

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

: sgcg

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009677 - autosomal recessive limb-girdle muscular dystrophy type 2C

MONDO:0009677 - autosomal recessive limb-girdle muscular dystrophy type 2C

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)