Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 35