Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 21 442
C1298820 Aneurysm of aortic root disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 9 15
C0026266 Mitral Valve Insufficiency phenotype Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of the cardiovascular system 7 11
C0040961 Tricuspid Valve Insufficiency disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 4 5
C1851504 Aortic aneurysm, familial thoracic 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 6
C0344905 Left ventricular abnormality group Congenital Abnormality Abnormality of the cardiovascular system 2 1
C3151461 LISSENCEPHALY 4 disease Disease or Syndrome disease of anatomical entity; physical disorder 1 4