Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1832702 BRACHYDACTYLY, TYPE A2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 2 5
C1832708 MULTIPLE SYNOSTOSES SYNDROME 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 3
C1856738 Fibular hypoplasia and complex brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 3
C3809104 SYMPHALANGISM, PROXIMAL, 1B disease Disease or Syndrome 1 3
C0265260 Chondrodysplasia, Grebe type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1862103 Brachydactyly type C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 1 1
C3554446 BRACHYDACTYLY, TYPE A1, C disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1