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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 thyroiditis
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Accession:DOID:7188 term browser browse the term
Definition:An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. (DO)
Synonyms:exact_synonym: autoimmune thyroiditides;   lymphocytic thyroiditides;   lymphocytic thyroiditis;   lymphomatous thyroiditides;   lymphomatous thyroiditis
 narrow_synonym: Hashimoto thyroiditis;   Hashimoto's thyroiditis;   atrophic thyroiditis;   chronic lymphocytic thyroiditis
 broad_synonym: TG-RELATED CONDITION
 related_synonym: AITD1;   AITD2;   AITD3;   AITD4;   AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1;   AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2;   AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3;   AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4
 primary_id: MESH:D013967
 alt_id: OMIM:608173;   OMIM:608174;   OMIM:608175;   OMIM:608176
 xref: EFO:0006813;   ICD10CM:E06.3;   NCI:C38766
For additional species annotation, visit the Alliance of Genome Resources.

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autoimmune thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B cell scaffold protein with ankyrin repeats 1 onset ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chrNW_004936520:1,207,078...1,284,679
Ensembl chrNW_004936520:1,193,850...1,476,279 		JBrowse link
G Cd4 CD4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar Annotator: match by term: Hashimoto thyroiditis		 RGD
ClinVar		 PMID:14986169 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 More... RGD:7421515 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) RGD PMID:19301205 RGD:2307256 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101969065 mamu class II histocompatibility antigen, DR alpha chain ISO RGD PMID:12126634 RGD:5147805 NCBI chrNW_004936727:540,225...544,968
Ensembl chrNW_004936727:540,217...545,036 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Sla Src like adaptor ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar PMID:25741868 NCBI chrNW_004936470:16,232,614...16,264,982
Ensembl chrNW_004936470:16,232,602...16,264,982 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar
OMIM		 PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 More... NCBI chrNW_004936470:16,185,557...16,396,172 JBrowse link
G Tlr3 toll like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chrNW_004936554:3,370,766...3,388,125
Ensembl chrNW_004936554:3,369,469...3,385,907 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685 		JBrowse link
G Zfat zinc finger and AT-hook domain containing susceptibility ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 OMIM
ClinVar		 PMID:11440990 PMID:15294872 PMID:25741868 PMID:25741915 PMID:28940097 NCBI chrNW_004936470:14,974,493...15,151,029
Ensembl chrNW_004936470:14,977,496...15,151,041 		JBrowse link
Autoimmune Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
Hashimoto Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chrNW_004936520:1,207,078...1,284,679
Ensembl chrNW_004936520:1,193,850...1,476,279 		JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686 		JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Hashimoto Disease
DNA:SNP:cds:+49A/G (rs231775)(human)		 ClinVar
RGD
OMIM		 PMID:18752454 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 More... RGD:7421513 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) RGD PMID:15242568 RGD:8662824 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-572C>G(human)		 CTD
RGD		 PMID:16372246 PMID:21235536 RGD:7829719 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Tg thyroglobulin no_association ISO DNA:SNPs:exon:multiple
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:3052944 PMID:14636875 PMID:18656705 PMID:21559421 PMID:30373627 RGD:8548606 RGD:8548607 RGD:8548630 RGD:8548647 NCBI chrNW_004936470:16,185,557...16,396,172 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chrNW_004936474:814,510...889,851 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      endocrine system disease 5610
        autoimmune disease of endocrine system 333
          autoimmune thyroiditis 30
            Hashimoto Disease + 19
            Postpartum Thyroiditis 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      Immune & Inflammatory Diseases 4726
        immune system disease 4113
          primary immunodeficiency disease 3546
            autoimmune disease 1900
              autoimmune disease of endocrine system 333
                autoimmune thyroiditis 30
                  Hashimoto Disease + 19
                  Postpartum Thyroiditis 0
paths to the root