Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 7
C0175693 Russell-Silver syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 7
C0393591 AICARDI-GOUTIERES SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 7
C1631597 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7
C1855675 Arima syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 7
C2697932 Loeys-Dietz Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 7
C4551637 Erythrocytosis familial, 1 disease Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6
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 6
C0238339 Hereditary pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 6
C0740457 Malignant neoplasm of kidney disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6
C0848548 hypertensive nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6
C1275808 Congenital central hypoventilation disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 6
C1832662 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO phenotype Finding 6
C2931788 Atypical Hemolytic Uremic Syndrome disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 6
C3842001 Adult only phenotype Finding 6
C3888239 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 disease Finding 6
C4551482 Adams-Oliver syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 6
C0004903 Beckwith-Wiedemann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; syndrome 5
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5
C0020179 Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of anatomical entity 5
C0029294 Orofaciodigital Syndromes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 5
C0079301 Junctional Epidermolysis Bullosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5
C0175704 LEOPARD Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 5
C0234398 Visual Cortex Disorder disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 5