Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 45
C0026850 Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the musculature 14
C0266483 Pachygyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 8
C0266463 Lissencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 7
C3151184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 disease Disease or Syndrome disease of anatomical entity 1