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 congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. (DO)
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant ClinVar Annotator: match by OMIM:254090
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal recessive ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2 ClinVar Annotator: match by OMIM:254090
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar Annotator: match by OMIM:254090