Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 130 1012
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 59 442
C1858556 OVERLAP CONNECTIVE TISSUE DISEASE disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31
C0013581 Ectopia Lentis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 34 17
C0265287 Acromicric Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 21 31
C1851286 Ectopia lentis isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 3
C1869115 Weill-Marchesani Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 23
C3280054 GELEOPHYSIC DYSPLASIA 2 disease Disease or Syndrome 1 27
C4310796 MARFAN LIPODYSTROPHY SYNDROME disease Disease or Syndrome 1 27
C1861456 Stiff Skin Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 26
C3541518 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT disease Disease or Syndrome genetic disease; disease of anatomical entity 1 24