Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 497 70
C0340643 Dissection of aorta disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 152 16
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
C0003706 Arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality 102 25
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
C0023316 Lens Subluxation disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 9 3
C4016055 MARFAN SYNDROME, ATYPICAL disease Finding 1 2