Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0023487 Acute Promyelocytic Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 13
C1833104 DIABETES MELLITUS, PERMANENT NEONATAL disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 6
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 1
C1512709 Chronic Lymphoproliferative Disorder of NK-Cells disease Pathological Conditions, Signs and Symptoms Neoplastic Process disease of anatomical entity 1
C3489795 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2936739 Hyper-Immunoglobulin E Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C3887645 Job Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2930809 Neutropenia and hyperlymphocytosis with large granular lymphocytes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1
C1955861 T-Cell Large Granular Lymphocyte Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1