Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3665444 Neutrophilia (disorder) disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 150 1
C0040997 Trigeminal Neuralgia disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 107 1
C0151311 Cranial nerve palsies disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 81 1
C1292754 Mediastinal (Thymic) Large B-Cell Lymphoma disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 66 1
C2613439 Extramedullary Hematopoiesis (disorder) disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 52 1
C0740302 5q-syndrome disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 45 1
C1802398 Chromosome 5, trisomy 5q disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1
C1292779 Myelodysplastic Syndrome with Isolated del(5q) disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity 41 1
C1301355 Myelodysplastic-Myeloproliferative Diseases group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 38 1
C4721505 Sarcoma, Myeloid disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 31 1
C0009812 Constitutional Symptom phenotype Sign or Symptom Constitutional symptom 30 1
C0152276 Granulocytic Sarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 28 1
C1282609 Granulocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1
C2930974 Acute erythroleukemia disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 13 1
C0014122 Subacute Bacterial Endocarditis disease Infections; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 12 1
C0242073 Pulmonary congestion disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 10 1
C0457506 Reactive thrombocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome 9 1
C0272362 Acquired von Willebrand's disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 8 1
C0541912 Duodenal Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 8 1
C0025167 Megakaryocytic hyperplasia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 1
C0600502 Vascular Hemostatic Disorders group Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 7 1
C0740992 anemia hemoglobin disease Disease or Syndrome 6 1
C2826330 Refractory anemia with ring sideroblasts associated with marked thrombocytosis disease Hemic and Lymphatic Diseases Neoplastic Process 6 1
C0338575 Sagittal Sinus Thrombosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 5 1
C0153426 Malignant neoplasm of duodenum disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5 1