Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 178
C4554063 Bone Pain, CTCAE 5.0 phenotype Finding 67
C4552938 Productive Cough, CTCAE phenotype Finding 17
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87
C4551683 Adrenal Gland Pheochromocytoma disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 15
C4551560 Truncal obesity phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding Growth abnormality 35
C4476767 Diffuse alveolar hemorrhage disease Disease or Syndrome Abnormality of blood and blood-forming tissues; Abnormality of the respiratory system; Abnormality of the cardiovascular system 13
C4476540 Dilatation of the cerebral artery phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality Abnormality of the nervous system; Abnormality of the cardiovascular system 25
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 26
C4316812 Fibrinogen Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 34
C4293708 Recurrent paroxysmal headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 16
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 155
C4025760 Primary hypercortisolism disease Disease or Syndrome Abnormality of the endocrine system 4
C4025693 Hypertension associated with pheochromocytoma disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4
C4025669 Decreased circulating ACTH level phenotype Finding Abnormality of the endocrine system 18
C4025651 Increased circulating cortisol level phenotype Finding Abnormality of the endocrine system 11
C4025002 Pulmonic valve myxoma disease Neoplastic Process Abnormality of the cardiovascular system 1
C4024667 Congenital craniofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 3
C4024641 Enlarged polycystic ovaries disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome Abnormality of the genitourinary system 18
C4024276 Peripheral Schwannoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process Abnormality of the integument; Abnormality of the nervous system; Neoplasm 2
C4023616 Abnormality of immune system physiology phenotype Pathologic Function Abnormality of the immune system 41
C4023574 Abnormality of circulating adrenocorticotropin level phenotype Finding Abnormality of the endocrine system 6
C4023068 Increased urinary cortisol level phenotype Nutritional and Metabolic Diseases Finding Abnormality of the endocrine system 8
C4022608 Oral cavity bleeding phenotype Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 18
C4022448 Abnormal prolactin level phenotype Finding Abnormality of the nervous system; Abnormality of the endocrine system 9