Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 44
C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 22
C1832931 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C3645536 Autosomal Recessive Centronuclear Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C0410204 Myopathy, Centronuclear, Autosomal Recessive disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 4
C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1