Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0266574 Ablepharon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of head or neck 19 1
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 64 0
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 126 3
C2718092 Acrospiroma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 0
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 61 5
C0267026 Actinic cheilitis disease Stomatognathic Diseases Disease or Syndrome disease of cellular proliferation 64 8
C0022602 Actinic keratosis disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 132 8
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
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 385 97
C4023149 Acute disseminated intravascular coagulation disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 1 0
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 289 4
C0856825 Acute GVH disease disease Immune System Diseases Disease or Syndrome 294 49
C1279945 Acute interstitial pneumonia disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 88 8
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 602 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 1289 211
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 612 22
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 426 51
C0023487 Acute Promyelocytic 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 629 21
C0264490 Acute respiratory failure disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 78 5
C0431129 Adamantinous Craniopharyngioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 48 6
C0085281 Addictive Behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 330 54
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2080 167
C0334276 Adenocarcinoma in Situ phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of cellular proliferation 55 0
C1332243 Adenocarcinoma of ampulla of Vater disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 14 1
C0338106 Adenocarcinoma of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 395 6