CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001231 ACTH Syndrome, Ectopic disease Neoplasms Disease or Syndrome disease of anatomical entity 1 0
C0001614 Adrenal Cortex Diseases group Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 0
C0001787 Osteoporosis, Age-Related disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 268 231
C0002622 Amnesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 17 2
C0003129 Anoxemia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0
C0003130 Anoxia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 33 0
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1 2345
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0004930 Behavior Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12 0
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12 49
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 477 552
C0005587 Depression, Bipolar disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 79 0
C0005910 Body Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 15 92
C0006663 Calcinosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of the musculature 42 0
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 128 119
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 57 470
C0007370 Catalepsy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 15 0
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1 19
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 110 4
C0009171 Cocaine Abuse disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 127 0
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 7 49
C0010481 Cushing Syndrome disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 6 0
C0010692 Cystitis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 4 0
C0011570 Mental Depression disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 254 0