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ONTOLOGY REPORT - ANNOTATIONS


Term:autoimmune polyendocrine syndrome
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Accession:DOID:14040 term browser browse the term
Definition:Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.
Synonyms:exact_synonym: AIRE deficiencies;   AIRE deficiency;   APECED;   Autoimmune Polyendocrinopathy;   Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy;   Autoimmune polyglandular failure;   Diabetes Mellitus, Addison Disease, Myxedema;   Lloyd's syndrome;   autoimmune polyendocrinopathies;   autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy;   diabetes mellitus, Addison's disease, myxedema
 primary_id: MESH:D016884
 xref: ICD10CM:E31.0;   NCI:C84576
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autoimmune polyendocrine syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aire autoimmune regulator JBrowse link 20 11,365,630 11,380,636 RGD:1599008
RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147646
RGD:5147800
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147646
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147646
autoimmune polyendocrine syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aire autoimmune regulator JBrowse link 20 11,365,630 11,380,636 RGD:7240710
RGD:8554872
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Dnmt3l DNA methyltransferase 3 like JBrowse link 20 11,344,513 11,359,090 RGD:8554872
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:10401267
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:10401267
G Icoslg inducible T-cell co-stimulator ligand JBrowse link 20 11,330,000 11,340,307 RGD:8554872
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:8554872
G Krtap12-2 keratin associated protein 12-2 JBrowse link 20 11,620,616 11,620,945 RGD:8554872
G LOC103694397 keratin-associated protein 12-1-like JBrowse link 20 11,612,348 11,613,038 RGD:9068941
G LOC690478 similar to keratin associated protein 10-7 JBrowse link 20 11,655,967 11,656,884 RGD:8554872
G Lrrc3 leucine rich repeat containing 3 JBrowse link 20 11,488,514 11,491,354 RGD:8554872
G Pfkl phosphofructokinase, liver type JBrowse link 20 11,393,860 11,415,889 RGD:8554872
G Pttg1ip PTTG1 interacting protein JBrowse link 20 11,746,369 11,764,097 RGD:8554872
G Sumo3 small ubiquitin-like modifier 3 JBrowse link 20 11,726,488 11,737,050 RGD:8554872
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 JBrowse link 20 11,434,062 11,482,880 RGD:8554872
G Tspear thrombospondin-type laminin G domain and EAR repeats JBrowse link 20 11,501,510 11,529,210 RGD:8554872
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 JBrowse link 20 11,700,089 11,721,823 RGD:8554872
autoimmune polyendocrine syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147565
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147565
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147565

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      endocrine system disease 4933
        autoimmune disease of endocrine system 95
          autoimmune polyendocrine syndrome 20
            Autoimmune Enteropathy 0
            Autoimmune Oophoritis 0
            Autoimmune Polyendocrine Syndrome Type 3 0
            autoimmune polyendocrine syndrome type 1 17
            autoimmune polyendocrine syndrome type 2 3
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      Immune & Inflammatory Diseases 3408
        immune system disease 2797
          hypersensitivity reaction disease 1524
            autoimmune hypersensitivity disease 1219
              autoimmune disease of endocrine system 95
                autoimmune polyendocrine syndrome 20
                  Autoimmune Enteropathy 0
                  Autoimmune Oophoritis 0
                  Autoimmune Polyendocrine Syndrome Type 3 0
                  autoimmune polyendocrine syndrome type 1 17
                  autoimmune polyendocrine syndrome type 2 3
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