Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 332
C0002986 Fabry Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument; Abnormality of the cardiovascular system 2 135
C1970820 Fabry Disease, Cardiac Variant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 2 5