Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 4
C0028878 Odontogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C0040761 Transposition of Great Vessels disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 4
C0477984 Other congenital malformations of anterior segment of eye disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C0478085 Other epidermolysis bullosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C0868847 Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C1409792 Coronary sinus defect disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C1837341 Transposition of the Great Arteries, Dextro-Looped 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C2745959 Spondyloepiphyseal dysplasia, congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C2981132 Shell teeth disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 4
C3257801 Dextrotransposition of aorta disease Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C3536741 Discordant ventriculoarterial connection disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4
C0002902 Anencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the nervous system 3
C0007772 Intracranial Arteriovenous Malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity; disease of cellular proliferation 3
C0013069 Double Outlet Right Ventricle disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3
C0018798 Congenital Heart Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3
C0078918 Albinism, Oculocutaneous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 3
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 3
C0265357 Polysplenia Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; physical disorder 3
C0265554 Ectrodactyly 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 3
C0311251 Simple buphthalmos disease Congenital Abnormality genetic disease; disease of anatomical entity 3
C0344692 Isomerism of atrial appendages disease Congenital Abnormality genetic disease; physical disorder 3
C2910124 Isomerism of atrial appendages with asplenia or polysplenia disease Congenital Abnormality genetic disease; physical disorder 3
C3178806 Right Atrial Isomerism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; physical disorder Abnormality of the cardiovascular system; Growth abnormality 3