Source: LHGDN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000744 Abetalipoproteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 2
C0000809 Abortion, Habitual disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6
C0000832 Abruptio Placentae phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 7
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 2
C0014553 Absence Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 10
C0267841 Acalculous Cholecystitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C0000887 Acantholysis phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 3
C0846967 Acanthoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 2
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 1
C0001075 Achlorhydria phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 2
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0001122 Acidosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of metabolism/homeostasis 8
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 6
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 1
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 2
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 7
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 29
C1510455 Acrocephalosyndactylia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 2
C0001197 Acrodermatitis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 2
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 5
C1306214 ACTH-Secreting Pituitary Adenoma disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 3
C0022602 Actinic keratosis disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 11
C0600433 Activated Protein C Resistance disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 7
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 52
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 20