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 myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)
Synonyms:
exact_synonym:
Alpha-B Crystallinopathy; MFM2; Myopathy, Cardioskeletal, Desmin-Related, with Cataract; desmin-related myopathy, associated with mutation in the CRYAB gene; myofibrillar myopathy, alpha-B crystallin-related; myofibrillar myopathy, with or without cataract and/or cardiomyopathy