Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1835398 LI-FRAUMENI SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 39
C3553606 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 disease Finding 1 7
C1859973 Adrenocortical Carcinoma, Pediatric disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 2
C4302347 Occupational cancer of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 2
C4748488 BONE MARROW FAILURE SYNDROME 5 disease Disease or Syndrome 1 2
C4013716 Small cell carcinoma of the ovary, hypercalcemic type phenotype Neoplasms Finding 1 1
C0006264 Bronchial Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 1 0
C0011871 Diabetic peripheral angiopathy disease Nutritional and Metabolic Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of metabolism 1 0
C0013426 Dystrophy of vulva disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 1 0
C0085668 Secondary carcinoma phenotype Neoplasms Neoplastic Process 1 0
C0238517 Vaginal clear cell adenocarcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process Abnormality of the genitourinary system; Neoplasm 1 0
C0240995 Increased serum androstenedione phenotype Finding Abnormality of the endocrine system 1 0
C0267095 Leukoplakia of esophagus disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity Abnormality of the digestive system 1 0
C0278513 Stage IIIB Breast Carcinoma disease Neoplastic Process 1 0
C0279602 Fibroblastic osteosarcoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0
C0334229 Malignant tumor, giant cell type disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0
C0334252 Squamous cell carcinoma, microinvasive disease Neoplasms Neoplastic Process 1 0
C0334365 Mucinous cystic tumor of borderline malignancy disease Neoplasms Neoplastic Process 1 0
C0334550 Chondroblastoma, malignant disease Neoplastic Process 1 0
C0341189 Reactive gastritis disease Digestive System Diseases Disease or Syndrome 1 0
C0345984 Solitary keratoacanthoma disease Skin and Connective Tissue Diseases Neoplastic Process 1 0
C0545034 pituitary giant disease Acquired Abnormality 1 0
C0748023 Bacterial prostatitis disease Infections; Male Urogenital Diseases Disease or Syndrome 1 0
C0861471 Adenocarcinoma of the cardia disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0
C1167716 Stage I Gallbladder Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0