Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0268615 5,10-Methylenetetrahydrofolate reductase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 6 6
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0520966 Abnormal coordination phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 59 4
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C0000809 Abortion, Habitual disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0
C0000832 Abruptio Placentae phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 12 0
C0751316 Acquired Meningomyelocele phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality disease of anatomical entity; physical disorder 4 0
C2585317 Acquired thrombophilia disease Hemic and Lymphatic Diseases Disease or Syndrome 8 2
C0702169 Acrania disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 31 0
C0221347 Acrocyanosis phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the respiratory system 25 5
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
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 41 30
C0751956 Acute Cerebrovascular Accidents disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2
C0742343 Acute Chest Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 405 135
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
C0856825 Acute GVH disease disease Immune System Diseases Disease or Syndrome 294 49
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
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 639 50
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
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 633 22
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 766 118
C0746731 Acute myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 32 2
C0085281 Addictive Behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 332 56