Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 260
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 257
C1565489 Renal Insufficiency disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 252
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 187
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 187
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 179
C0234632 Reduced visual acuity phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 141
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 128
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
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 112
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 110
C0035309 Retinal Diseases group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 108
C1962966 Retinopathy, CTCAE phenotype Finding 108
C0270685 Cerebral calcification phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the skeletal system 102
C0033774 Pruritus phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 99
C0085298 Sudden Cardiac Death phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 93
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
C0151811 Subcutaneous nodule phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function Abnormality of the integument 80
C0026267 Mitral Valve Prolapse Syndrome disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 71
C0542514 Blue sclera phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding Abnormality of the eye 68
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