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 2E
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)
Synonyms:
exact_synonym:
LGMD2E; LGMDR4; autosomal recessive limb-girdle muscular dystrophy 4; beta-sarcoglycan limb-girdle muscular dystrophy; beta-sarcoglycanopathy; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; limb-girdle muscular dystrophy with beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E
CTD Direct Evidence: marker/mechanism OMIM:604286 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4