Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0035440 Acute rheumatic heart disease disease Infections; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 2 0
C0007855 Cervical polyp disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process Abnormality of the genitourinary system 3 0
C0338342 Recurrent Childhood Medulloblastoma disease Neoplasms Neoplastic Process 3 0
C1335712 Recurrent Medulloblastoma disease Neoplasms Neoplastic Process 4 0
C0267008 Erythroplakia of mouth disease Disease or Syndrome Abnormality of head or neck 5 0
C0855138 Mantle cell lymphoma refractory disease Neoplastic Process 6 0
C1866174 Phosphoglycerate Dehydrogenase Deficiency disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of metabolism 7 9
C3710589 Cap Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4
C0242073 Pulmonary congestion disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 10 1
C2242704 Chronic myeloid leukaemia transformation disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 11 0
C0023472 Leukemia, Myeloid, Accelerated Phase disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 12 0
C1257840 Aganglionosis, Rectosigmoid Colon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 15 0
C0027686 Pathologic Neovascularization phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 16 0
C3661523 Congenital Intestinal Aganglionosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome disease of anatomical entity 18 16
C0936282 Blastoma disease Neoplasms Neoplastic Process disease of cellular proliferation 20 0
C4551504 Oculocutaneous albinism type 1A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 21 101
C0406557 Poikiloderma of Kindler disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 21 25
C0334279 Adenocarcinoma, intestinal type disease Neoplasms Neoplastic Process 23 2
C0278802 Recurrent Endometrial Cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 24 2
C0266258 Congenital absence of liver disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 25 2
C0085758 Aganglionosis, Colonic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of the nervous system 36 11
C0862196 Mycosis fungoides/Sezary syndrome NOS disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 0
C2713368 Hematopoetic Myelodysplasia phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity; disease of cellular proliferation 38 0
C0220603 Childhood Brain Neoplasm disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1
C0023464 Acute biphenotypic 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 45 0