Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0221347 Acrocyanosis phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the respiratory system 1 1
C4476545 Dilatation of the ventricular cavity phenotype Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 1 2
C0424551 Impaired exercise tolerance phenotype Finding Abnormality of the musculature 4 7
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C0855329 Electrocardiogram change phenotype Finding 18 27
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443