ONTOLOGY REPORT - ANNOTATIONS


Term:immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
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Accession:DOID:0090110 term browser browse the term
Definition:An autoimmune hypersensitivity disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: Autoimmunity-Immunodeficiency Syndrome, X-Linked;   DMSD;   Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea;   Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked;   Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy;   IDDM-Secretory Diarrhea Syndrome;   INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME;   IPEX;   Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked;   Ipex Syndrome;   X-linked autoimmunity-allergic dysregulation syndrome;   X-linked polyendocrinopathy, immune dysfunction, and diarrhea;   XLAAD;   XPID;   autoimmune enteropathy type 1
 narrow_synonym: IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;   ISLETS OF LANGERHANS, ABSENCE OF
 primary_id: MESH:C580192
 alt_id: OMIM:304790;   RDO:0012351;   RDO:0015899
 xref: GARD:1850;   ORDO:37042
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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp3 forkhead box P3 JBrowse link X 15,753,175 15,768,648 RGD:1598959
RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1
Path 2
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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              diabetes mellitus 1329
                type 1 diabetes mellitus 317
                  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.