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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
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Accession:DOID:0090110 term browser browse the term
Definition:An autoimmune 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;   absence of islets of Langerhans
 primary_id: MESH:C580192
 alt_id: OMIM:304790
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465 		JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:304790
ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome		 OMIM
ClinVar
CTD		 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:12161590 PMID:15096376 PMID:16741580 PMID:16920951 PMID:17635943 PMID:18414213 PMID:18931102 PMID:18951619 PMID:19471859 PMID:20650610 PMID:21036387 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24982679 PMID:25326164 PMID:25741868 PMID:25911531 PMID:26661331 PMID:27783946 PMID:28492532 PMID:28778586 PMID:28783662 PMID:29896738 PMID:30443250, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 3
Path 2
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        acquired metabolic disease 2786
          carbohydrate metabolism disease 1759
            glucose metabolism disease 1759
              diabetes mellitus 1369
                type 1 diabetes mellitus 303
                  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 3
paths to the root