RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
autosomal recessive limb-girdle muscular dystrophy type 2A
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)
Synonyms:
exact_synonym:
LGMD2; LGMD2A; LGMDR1; Leyden-Moebius muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy, 1; calpainopathy; limb-girdle muscular dystrophy due to calpain deficiency; limb-girdle muscular dystrophy type 2; limb-girdle muscular dystrophy, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy
ClinVar Annotator: match by OMIM:253600 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar Annotator: match by term: Calpainopathy ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy