autosomal recessive limb-girdle muscular dystrophy type 2C Disease Ontology Browser

Disease Ontology Browser

autosomal recessive limb-girdle muscular dystrophy type 2C (DOID:0110277)
Alliance: disease page
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
Alt IDs: OMIM:253700, ICD10CM:G71.0, ORDO:353
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

Disease References using Mouse Models (7)

Allelic Composition	Genetic Background	Reference	Phenotypes
Sgcgtm1Oza/Sgcgtm1Oza	involves: 129S4/SvJae * C57BL/6	J:102780	View
Sgcgtm1Mcn/Sgcgtm1Mcn	involves: 129X1/SvJ * C57BL/6	J:49871, J:57664, J:88456	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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