Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0339434 Choroidal effusion disease Disease or Syndrome 1 0
C0751079 Diplopia, Vertical disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0
C1853438 INFLAMMATORY BOWEL DISEASE 5 disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 2
C0574002 Edema of foot (finding) phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0
C0002418 Amblyopia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 9 2
C0005683 Urinary Bladder Calculi (disorder) disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 9 0
C1264610 Infectious peritonitis disease Digestive System Diseases; Infections Disease or Syndrome 11 0
C4534309 Acute lung injury/Acute respiratory distress syndrome (ARDS) disease Disease or Syndrome 12 0
C1321422 Monoblastic leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 14 0
C0392557 Nuclear cataract disease Eye Diseases Disease or Syndrome Abnormality of the eye 23 10
C2931826 Potassium aggravated myotonia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 27 4
C1535950 Gastrointestinal inflammation disease Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 30 0
C0729531 Viral respiratory infection group Infections; Respiratory Tract Diseases Disease or Syndrome 33 0
C1142553 Primary HIV infection disease Infections; Immune System Diseases Disease or Syndrome 38 1
C0340279 Ventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 39 4
C0302180 Condyloma disease Disease or Syndrome 40 0
C1292779 Myelodysplastic Syndrome with Isolated del(5q) disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity 41 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
C3805043 Vascular cognitive impairment disease Disease or Syndrome 42 1
C0038522 Subacute Sclerosing Panencephalitis disease Infections; Nervous System Diseases Disease or Syndrome disease by infectious agent 44 6
C0740302 5q-syndrome disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 45 1
C0392164 Pulmonary Cystic Fibrosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 46 0
C0861352 Lobular Neoplasia disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of cellular proliferation 49 3
C1332153 acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome disease Neoplastic Process 49 1
C3489413 Lipomatosis, Multiple disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 52 1