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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;   TG-RELATED DISORDERS
 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: MIM:608173;   MIM:608174;   MIM:608175;   MIM:608176
 xref: EFO:0003779;   EFO:0006812;   EFO:0006813;   ICD10CM:E06.3;   NCI:C38766
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405 		JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3' utr:6230G>A (rs3087243) (human)
ClinVar Annotator: match by term: Hashimoto thyroiditis
DNA:SNP: :-318C>T(rs11571302)(human) 		ClinVar
RGD		 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 More... RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il4 interleukin 4 IMP RGD PMID:9892610 RGD:8142396 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		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 chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon: 		RGD PMID:22360648 PMID:19703233 RGD:8693703, RGD:14696815 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:12126634 RGD:5147805 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:21683551 PMID:12126634 PMID:20825955 RGD:5147557, RGD:5147805, RGD:5147571 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 | ClinVar Annotator: match by term: TG-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 | ClinVar Annotator: match by term: TG-Related Disorders
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:exon:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:2584351 PMID:3661566 PMID:7593451 PMID:8325944 PMID:9588493 More... RGD:5147557, RGD:8548629 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Zfat zinc finger and AT hook domain containing susceptibility ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11440990 PMID:15294872 PMID:25741868 PMID:28940097 NCBI chr 7:99,886,954...100,054,288
Ensembl chr 7:99,886,954...100,054,274 		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:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		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 chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405 		JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:cds:+49A/G (rs231775)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hashimoto Disease 		CTD
ClinVar
OMIM
RGD		 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 More... RGD:7421513 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		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 chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human) 		RGD PMID:19254248 PMID:8157715 RGD:5147613, RGD:7483569 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tg thyroglobulin no_association ISO
IDA 		DNA:SNPs:exon:multiple
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:30373627 PMID:14636875 PMID:21559421 PMID:18656705 PMID:3052944 RGD:8548606, RGD:8548607, RGD:8548630, RGD:8548647 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      endocrine system disease 7044
        autoimmune disease of endocrine system 462
          autoimmune thyroiditis 37
            Hashimoto Disease + 23
            Postpartum Thyroiditis 0
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          primary immunodeficiency disease 4483
            autoimmune disease 2378
              autoimmune disease of endocrine system 462
                autoimmune thyroiditis 37
                  Hashimoto Disease + 23
                  Postpartum Thyroiditis 0
paths to the root