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 2B
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)
Synonyms:
exact_synonym:
LGMD2B; LGMD3; LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B; Muscular dystrophy, limb-girdle, type 3; limb-girdle muscular dystrophy due to dysferlin deficiency
CTD Direct Evidence: marker/mechanism OMIM:253601 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3