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.
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)
Synonyms:
exact_synonym:
MDDGB2; Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2; congenital muscular dystrophy, POMT2-related; congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2; congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2