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 distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)
Synonyms:
exact_synonym:
MPD4; WILLIAMS DISTAL MYOPATHY; distal ABD-filaminopathy; distal muscular dystrophy 4; distal myopathy with posterior leg and anterior hand involvement
ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY