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
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 235
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C0022346 Icterus phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Abnormality of the integument 140
C0231807 Dyspnea on exertion phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 90
C0042571 Vertigo phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom disease of anatomical entity Abnormality of the ear 88
C0085631 Agitation phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 87
C0008031 Chest Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 81
C0151825 Bone pain phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 67
C0241144 Petechiae of skin phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 46
C4293708 Recurrent paroxysmal headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 16
C0574002 Edema of foot (finding) phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 14
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C0014591 Epistaxis phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 81
C0017565 Gingival Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 48
C4023616 Abnormality of immune system physiology phenotype Pathologic Function Abnormality of the immune system 41
C0013491 Ecchymosis phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 40
C4022608 Oral cavity bleeding phenotype Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 18
C0025874 Metrorrhagia phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system 16
C0040038 Thromboembolism phenotype Cardiovascular Diseases Pathologic Function Abnormality of blood and blood-forming tissues 13
C0030297 Pancreatic Neoplasm disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56
C0027962 Melanocytic nevus disease Neoplasms Neoplastic Process Abnormality of the integument 53
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 38
C0027960 Nevus disease Neoplasms Neoplastic Process Abnormality of the integument 26