Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 422 0
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0
C4703473 Atherosclerotic lesion disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 253 0
C1963094 Dry Skin, CTCAE phenotype Finding 137 0
C1258666 Myxoid cyst disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 106 0
C2676033 Hepatoblastoma Caused By Somatic Mutation disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 106 0
C0085648 Synovial Cyst disease Neoplasms Disease or Syndrome 87 0
C1563937 Atherogenesis phenotype Cardiovascular Diseases Pathologic Function 59 0
C0423250 Corneal stromal opacities phenotype Eye Diseases Finding Abnormality of the eye 46 0
C0023794 Lipoidosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 44 0
C2748055 Hypoinsulinaemia (disorder) disease Disease or Syndrome Abnormality of the endocrine system 36 0
C1557375 Blurred Vision, CTCAE phenotype Finding 26 0
C0747820 Malaria, antepartum disease Disease or Syndrome 15 0
C1858970 Chronic noninfectious lymphadenopathy phenotype Hemic and Lymphatic Diseases Finding Abnormality of the immune system; Abnormality of the cardiovascular system 12 0
C4021222 Impaired temperature sensation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 8 0
C1849618 Accelerated atherosclerosis phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 0
C1859178 Progressive peripheral neuropathy phenotype Finding Abnormality of the nervous system 5 0
C4024968 Impaired thermal sensitivity phenotype Finding Abnormality of metabolism/homeostasis 3 0
C4524373 Hamster Melanoma disease Neoplastic Process 3 0
C0155196 Cicatricial ectropion disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 2 0
C0342898 Apolipoprotein A-I deficiency phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function 2 0
C1858114 HUNTINGTON DISEASE-LIKE 3 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0
C3165209 High density lipoprotein deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 0
C3642304 Placental Malformation disease Disease or Syndrome 2 0