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
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 18
C0265747 Congenital atresia of nasopharynx disease Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality genetic disease; syndrome 13
C0022521 Kartagener Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 13
C0478019 Other specified congenital malformations of respiratory system disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality genetic disease; syndrome 13
C3151136 CILIARY DYSKINESIA, PRIMARY, 14 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1