Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 15 10
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 148 18
C0000822 Abortion, Tubal phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 46 21
C0001122 Acidosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of metabolism/homeostasis 28 0
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 167 11
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
C0221369 Acquired Camptodactyly disease Acquired Abnormality 120 1
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
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 138 25
C1864356 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 17
C2215101 Acute cerebral ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 47 2
C0751956 Acute Cerebrovascular Accidents disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2
C0546126 Acute Confusional Senile Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C2609414 Acute kidney injury disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning disease of anatomical entity Abnormality of the genitourinary system 185 3
C1565662 Acute Kidney Insufficiency disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 104 0
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1293 222
C0023479 Acute myelomonocytic leukemia disease Neoplasms Neoplastic Process Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 105 3
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 766 118
C0748355 Acute respiratory distress disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6
C0280141 Acute Undifferentiated Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 119 1
C0431129 Adamantinous Craniopharyngioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 48 6