Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 17