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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:thyroiditis
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Accession:DOID:7166 term browser browse the term
Definition:Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes.
Synonyms:exact_synonym: Thyroiditides
 primary_id: MESH:D013966;   RDO:0006697
 xref: ICD10CM:E06;   ICD9CM:245;   NCI:C26894
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator IEP RGD PMID:20968180 RGD:10054115 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Thyroiditis ClinVar PMID:26092869, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Thyroiditis ClinVar PMID:30311386 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Thyroiditis ClinVar PMID:30311386 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Thyroiditis ClinVar PMID:9467011, PMID:10400993, PMID:16014636, PMID:17526801, PMID:21194675, PMID:21659347, PMID:25525159, PMID:28492532, PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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:27577878, PMID:28492532 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
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 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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's thyroiditis
DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:16352685, PMID:14986169, PMID:9398726 RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4 interleukin 4 IMP RGD PMID:9892610 RGD:8142396 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Hashimoto thyroiditis ClinVar PMID:30311386 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:12126634 RGD:5147805 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hashimoto's thyroiditis ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tg thyroglobulin susceptibility ISO ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608175
DNA:SNPs, haplotype:exon:multiple
ClinVar
OMIM
CTD
PMID:10403171, PMID:14657345, PMID:15579800, PMID:19339519, PMID:21757724, PMID:24033266, PMID:25741868, PMID:28942902, PMID:29385629, PMID:29590070, PMID:21683551, PMID:14657345 RGD:5147557, RGD:8548629 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Zfat zinc finger and AT hook domain containing susceptibility ISO ClinVar Annotator: match by OMIM:608175
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11440990, PMID:15294872 NCBI chr 7:109,037,777...109,207,511
Ensembl chr 7:109,037,845...109,205,354
JBrowse link
Chronic Thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma susceptibility ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16970687 RGD:8157599 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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)
OMIM
ClinVar
PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:18752454 RGD:7421513 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:21235536 RGD:7829719 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hashimoto Disease ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tg thyroglobulin no_association ISO
IDA
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple
CTD PMID:30373627, PMID:14636875, PMID:3052944, PMID:18656705, PMID:21559421 RGD:8548606, RGD:8548647, RGD:8548630, RGD:8548607 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        thyroid gland disease 367
          thyroiditis 43
            Chronic Thyroiditis + 24
            acute thyroiditis 0
            autoimmune thyroiditis + 38
            subacute thyroiditis + 0
            suppurative thyroiditis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.