Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C4022448 Abnormal prolactin level phenotype Finding Abnormality of the nervous system; Abnormality of the endocrine system 9
C4023574 Abnormality of circulating adrenocorticotropin level phenotype Finding Abnormality of the endocrine system 6
C4021822 Abnormality of female external genitalia disease Anatomical Abnormality Abnormality of the genitourinary system 15
C4023616 Abnormality of immune system physiology phenotype Pathologic Function Abnormality of the immune system 41
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 26
C1856639 Absent/hypoplastic paranasal sinuses phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 6
C0027859 Acoustic Neuroma disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm; Abnormality of the ear 3
C4551683 Adrenal Gland Pheochromocytoma disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 15
C1621895 Adrenal hyperplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome Abnormality of the endocrine system 16
C0206686 Adrenocortical carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 14
C0545053 Advanced bone age phenotype Finding Abnormality of the skeletal system 62
C0085631 Agitation phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 87
C1963060 Agitation, CTCAE 3.0 phenotype Finding 87
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 99
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 255
C0003962 Ascites phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 82
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 163
C0014121 Bacterial Endocarditis disease Infections; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the cardiovascular system 5
C0239801 Blonde hair phenotype Finding Abnormality of the integument 13