Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14
C0340543 Familial primary pulmonary hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 14
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 13
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 10
C0005779 Blood Coagulation Disorders group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 8
C1458140 Bleeding tendency phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity Abnormality of blood and blood-forming tissues 7
C0520557 Arteriovenous malformation of liver disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the digestive system; Abnormality of the cardiovascular system 1
C0241790 Congenital pulmonary arteriovenous malformation disease Respiratory Tract Diseases Congenital Abnormality 1
C0014591 Epistaxis phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 1
C1838163 OSLER-RENDU-WEBER SYNDROME 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 1
C0155675 Pulmonary Arteriovenous Fistulas disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1
C1857690 Pulmonary arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 1
C0039446 Telangiectasis disease Cardiovascular Diseases Finding disease of anatomical entity Abnormality of the integument; Abnormality of the cardiovascular system 1