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
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0349788 Arrhythmogenic Right Ventricular Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 11 108
C1843896 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 66
C1854063 Cardiomyopathy dilated with Woolly hair and keratoderma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 54
C4014393 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS disease Disease or Syndrome 1 8
C1843292 Skin Fragility-Woolly Hair Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 6
C1864826 Epidermolysis bullosa, lethal acantholytic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 5
C1852127 KERATOSIS PALMOPLANTARIS STRIATA II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 4