Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001622 Adrenal Gland Hyperfunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity 50 0
C0001623 Adrenal gland hypofunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 54 8
C0001624 Adrenal Gland Neoplasms group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 84 0
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 74 30
C0001676 Adult Antisocial Behavior phenotype Mental or Behavioral Dysfunction 1 0
C0001723 Affective Disorders, Psychotic group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 16 10
C0001726 Affective Symptoms phenotype Behavior and Behavior Mechanisms Sign or Symptom 23 10
C0001733 Afibrinogenemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8 0
C0001768 Agammaglobulinemia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 23 0
C0001787 Osteoporosis, Age-Related disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 31 0
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 263 25
C0001818 Agoraphobia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 25 11
C0001824 Agranulocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 46 8
C0001825 Agraphia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health 3 1
C0001849 AIDS Dementia Complex disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 0
C0001857 AIDS related complex disease Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 97 43
C0001883 Airway Obstruction group Respiratory Tract Diseases Disease or Syndrome 104 5
C0001916 Albinism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the integument 38 10
C0001956 Alcohol Use Disorder disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 202 54
C0001957 Alcohol Withdrawal Delirium disease Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 21 8
C0001969 Alcoholic Intoxication disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 24 4
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 471 223
C0002016 Aleutian Mink Disease disease Infections; Eye Diseases; Immune System Diseases; Animal Diseases Disease or Syndrome disease by infectious agent 2 0
C0002020 Alexithymia phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 39 12
C0002063 Alkalosis phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 18 2