Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 8
C4015129 46,XY SEX REVERSAL 9 disease Disease or Syndrome disease of anatomical entity 1
C1857781 Diaphragmatic Hernia 3 disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity 1
C0018054 Gonadal Dysgenesis, 46,XY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1