Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0157946 Osteoarthrosis, localized, not specified whether primary or secondary disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 12
C0342282 Multiple synostoses syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 2
C1832708 MULTIPLE SYNOSTOSES SYNDROME 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 2
C2751826 Multiple Synostoses Syndrome 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 2
C4551826 Symphalangism-brachydactyly syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 2
C2930970 Acromesomelic dysplasia Hunter-Thompson type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C1300268 Brachydactyly syndrome type C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 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
C3554446 BRACHYDACTYLY, TYPE A1, C disease Disease or Syndrome genetic disease; disease of anatomical entity 1
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 1
C0265260 Chondrodysplasia, Grebe type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
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