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
Sgcgtm1Mcn/Sgcgtm1Mcn	involves: 129X1/SvJ * C57BL/6	J:49871, J:57664, J:88456	View
Sgcgtm1Oza/Sgcgtm1Oza	involves: 129S4/SvJae * C57BL/6	J:102780	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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24