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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:autoimmune polyendocrine syndrome
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Accession:DOID:14040 term browser browse the term
Definition:An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)
Synonyms:exact_synonym: AIRE deficiencies;   AIRE deficiency;   APECED;   Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy;   Autoimmune polyglandular failure;   Lloyd's syndrome;   autoimmune polyendocrinopathies;   autoimmune polyendocrinopathy;   autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy;   diabetes mellitus, Addison disease, myxedema;   diabetes mellitus, Addison's disease, myxedema
 primary_id: MESH:D016884
 xref: ICD10CM:E31.0;   NCI:C84576
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
autoimmune polyendocrine syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator susceptibility ISO Polyendocrinopathies, Autoimmune
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16982213 PMID:9921903 PMID:29959280 RGD:1599008, RGD:38599145 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*03, HLA-DQA1*0401 (human)
DNA:polymorphisms:cds:HLA-DQA1*0301 (human)		 RGD PMID:16254435 PMID:12734793 RGD:5147646, RGD:5147800 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:16254435 RGD:5147646 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human) RGD PMID:16254435 RGD:5147646 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
autoimmune polyendocrine syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISO
IAGP		 ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
CTD Direct Evidence: marker/mechanism
OMIM:240300		 OMIM
ClinVar
CTD
MouseDO		 PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 More... NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Dnmt3l DNA methyltransferase 3-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456 		JBrowse link
G Gh growth hormone ISO RGD PMID:22506635 RGD:10401267 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Ghrh growth hormone releasing hormone ISO RGD PMID:22506635 RGD:10401267 NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426 		JBrowse link
G Icosl icos ligand ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747 		JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086 		JBrowse link
G Krtap10-22 keratin associated protein 10-22 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159 		JBrowse link
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376 		JBrowse link
G Krtap10-33 keratin associated protein 10-33 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591 		JBrowse link
G Krtap10-34 keratin associated protein 10-34 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088 		JBrowse link
G Krtap12-22 keratin associated protein 12-22 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843 		JBrowse link
G Krtap12-23 keratin associated protein 12-23 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370 		JBrowse link
G Pfkl phosphofructokinase, liver, B-type ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917 		JBrowse link
G Pttg1ip pituitary tumor-transforming 1 interacting protein ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827 		JBrowse link
autoimmune polyendocrine syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*01, HLA-DQA1*03 (human) RGD PMID:21388354 RGD:5147565 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) RGD PMID:21388354 RGD:5147565 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human) RGD PMID:21388354 RGD:5147565 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      endocrine system disease 6291
        autoimmune disease of endocrine system 375
          autoimmune polyendocrine syndrome 25
            Autoimmune Enteropathy 0
            Autoimmune Oophoritis 0
            Autoimmune Polyendocrine Syndrome Type 3 0
            autoimmune polyendocrine syndrome type 1 22
            autoimmune polyendocrine syndrome type 2 3
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      Immune & Inflammatory Diseases 5179
        immune system disease 4471
          primary immunodeficiency disease 3863
            autoimmune disease 2070
              autoimmune disease of endocrine system 375
                autoimmune polyendocrine syndrome 25
                  Autoimmune Enteropathy 0
                  Autoimmune Oophoritis 0
                  Autoimmune Polyendocrine Syndrome Type 3 0
                  autoimmune polyendocrine syndrome type 1 22
                  autoimmune polyendocrine syndrome type 2 3
paths to the root