Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0856761 Budd-Chiari Syndrome disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 22 4
C1861922 CAMPOMELIC DYSPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 67 4
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1515 412
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C1332979 Childhood Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1171 66
C2347761 Childhood Myelodysplastic Syndrome disease Hemic and Lymphatic Diseases Neoplastic Process 335 20
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
C0346421 Chronic eosinophilic leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 42 9
C0023434 Chronic 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 1358 125
C1292778 Chronic myeloproliferative disorder disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 351 44
C0023481 Chronic Neutrophilic Leukemia disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16 4
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0009812 Constitutional Symptom phenotype Sign or Symptom Constitutional symptom 30 1
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C2827469 Coronary Microvascular Disease disease Disease or Syndrome 45 3
C0151311 Cranial nerve palsies disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 3 1
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 45 3
C0149871 Deep Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 217 76
C0263662 Disseminated eosinophilic collagen disease disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 14 2
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
C0014457 Eosinophilia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 285 22
C1306759 Eosinophilic disorder group Hemic and Lymphatic Diseases Disease or Syndrome 288 22
C4551637 Erythrocytosis familial, 1 disease Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 24 5