Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0151854 Abnormal platelets phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction Abnormality of blood and blood-forming tissues 11
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 19
C0234632 Reduced visual acuity phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 141
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
C0241074 Hyperextensible skin phenotype Finding Abnormality of the integument 47
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 55
C0270685 Cerebral calcification phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the skeletal system 102
C0271185 Metamorphopsia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 10
C0333440 Hyaline body disease Anatomical Abnormality Abnormality of the integument 3
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 110
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
C0425791 Peau d'orange surface of breast phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom Abnormality of metabolism/homeostasis 3
C0542514 Blue sclera phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding Abnormality of the eye 68
C0600518 Choroidal Neovascularization phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function Abnormality of the eye 7
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 49
C0745730 Multiple lipomata disease Neoplasms Neoplastic Process Neoplasm; Abnormality of connective tissue 36
C1260959 Drusen disease Disease or Syndrome Abnormality of the eye 12
C1397139 Calcification of falx cerebri disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the skeletal system 6
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
C1611184 Calcification of coronary artery phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 4
C1836940 Thickened nuchal skin fold phenotype Finding Abnormality of prenatal development or birth; Abnormality of head or neck 56
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 112
C1842774 Hypermelanotic macule phenotype Finding Abnormality of the integument 57
C1843921 Postural instability phenotype Nervous System Diseases Finding Abnormality of the nervous system 57
C1849618 Accelerated atherosclerosis phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7