Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 464
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 320
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 237
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C0497156 Lymphadenopathy phenotype Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 152
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 137
C1963094 Dry Skin, CTCAE phenotype Finding 137
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 123
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 113
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 110
C0010038 Corneal Opacity phenotype Eye Diseases Finding Abnormality of the eye 106
C1848736 Distal amyotrophy disease Disease or Syndrome Abnormality of the musculature 105
C0221260 Dystrophia unguium disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 77
C1263857 Peripheral axonal neuropathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 75
C0019214 Hepatosplenomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 74
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 73
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 70
C3279947 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 disease Disease or Syndrome disease of anatomical entity 70
C1834405 Nail dysplasia disease Pathological Conditions, Signs and Symptoms Congenital Abnormality Abnormality of the integument 70
C4021780 Abnormality of the liver phenotype Finding Abnormality of the digestive system 67
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 65
C0423250 Corneal stromal opacities phenotype Eye Diseases Finding Abnormality of the eye 46