Source: LHGDN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0267841 Acalculous Cholecystitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 1
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 1
C0162565 Acute intermittent porphyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 1
C0001429 Adenolymphoma disease Neoplasms Neoplastic Process 1
C0019522 Adenoma, Sweat Gland disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1
C0206674 Adenoma, Villous disease Neoplasms Neoplastic Process 1
C0206623 Adenosquamous carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 1
C0001752 African swine fever disease Infections; Animal Diseases Disease or Syndrome 1
C0001818 Agoraphobia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1
C0586323 Alcohol Withdrawal Seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 1
C0085677 Alcoholic Neuropathy disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome disease of anatomical entity 1
C0002066 Alkaptonuria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 1
C0221757 alpha 1-Antitrypsin Deficiency disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0013370 Amebic colitis disease Digestive System Diseases; Infections Disease or Syndrome 1
C0002892 Anemia, Pernicious disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of metabolism 1
C0002902 Anencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the nervous system 1
C0162869 Aneurysm, Ruptured disease Cardiovascular Diseases Disease or Syndrome 1
C0002963 Angina Pectoris, Variant disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0002994 Angioedema phenotype Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system 1
C0019243 Angioedemas, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0002982 Angioid Streaks disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 1
C0206653 Angiomyoma disease Neoplasms Neoplastic Process disease of anatomical entity 1