Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3151867 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED disease Disease or Syndrome physical disorder 29
C3178805 Heterotaxy Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C1844020 HETEROTAXY, VISCERAL, 1, X-LINKED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C1853444 Heterotaxy, Visceral, 3, Autosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL disease Disease or Syndrome physical disorder 29
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
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
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
C0175707 Asplenia Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; physical disorder Growth abnormality 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
C1876173 Heterotaxy, Visceroatrial, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; physical disorder 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
C1876171 Polyasplenia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; physical disorder 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
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
C1876172 VAH, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; physical disorder 3