Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 326
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 323
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
C1861403 Variable expressivity phenotype Finding 319
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 207
C1845977 X- linked recessive phenotype Finding 172
C0030232 Pallor phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 121
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 120
C0349506 Photosensitivity of skin phenotype Skin and Connective Tissue Diseases Pathologic Function disease of anatomical entity Abnormality of the integument 91
C1847879 X-linked dominant inheritance phenotype Finding 65
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 59
C1837352 Childhood onset phenotype Finding 56
C0002886 Anemia, Macrocytic disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 31
C0271650 Impaired glucose tolerance phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 22
C0271901 Microcytic hypochromic anemia (disorder) disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 12
C0002896 Sideroblastic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 10
C4023583 Abnormality of iron homeostasis phenotype Finding Abnormality of metabolism/homeostasis 4
C4023007 Increased erythrocyte protoporphyrin concentration phenotype Finding Abnormality of metabolism/homeostasis 1