Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0265287 Acromicric Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 2
C0013581 Ectopia Lentis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 2
C1851286 Ectopia lentis isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C2746069 Familial ectopia lentis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C3489726 Geleophysic dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2
C1321551 Shprintzen-Goldberg syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C2931588 GEMSS syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C4310796 MARFAN LIPODYSTROPHY SYNDROME disease Disease or Syndrome 1
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 1
C4721845 Marfan Syndrome, Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C4016054 Neonatal Marfan syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1
C1861456 Stiff Skin Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1
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 1