Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 33
C0002982 Angioid Streaks disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 10
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 7
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 24
C0007196 Restrictive cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 13
C0015230 Exanthema phenotype Skin and Connective Tissue Diseases Sign or Symptom disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 81
C0017181 Gastrointestinal Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 113
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 187
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 260
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 187
C0021775 Intermittent Claudication phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 9
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C0026267 Mitral Valve Prolapse Syndrome disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 71
C0026269 Mitral Valve Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 16
C0026633 Mouth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 25
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 257
C0027709 Nephrocalcinosis disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 58
C0033774 Pruritus phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 99
C0035309 Retinal Diseases group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 108
C0035317 Retinal Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system 15
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0038449 Stricture of artery phenotype Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 16
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 55
C0085298 Sudden Cardiac Death phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 93
C0151811 Subcutaneous nodule phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function Abnormality of the integument 80