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

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Disease Ontology Browser

autosomal recessive limb-girdle muscular dystrophy type 2Q (DOID:0110285)
Alliance: disease page
Synonyms: autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; LGMD2Q; muscular dystrophy, limb-girdle, type 2Q
Alt IDs: OMIM:613723, ICD10CM:G71.0, ORDO:254361
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.

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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