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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 that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (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
For additional species annotation, visit the Alliance of Genome Resources.

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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
RGD:11554173
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        acquired metabolic disease 2710
          carbohydrate metabolism disease 1758
            glucose metabolism disease 1758
              diabetes mellitus 1349
                type 1 diabetes mellitus 314
                  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1
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