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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:Hashimoto Disease
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Accession:DOID:9007355 term browser browse the term
Definition:Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM.
Synonyms:exact_synonym: Chronic Lymphocytic Thyroiditis;   HT;   Hashimoto Struma;   Hashimoto Syndrome;   Hashimoto Thyroiditides;   Hashimoto thyroiditis;   Hashimoto's Struma;   Hashimoto's Syndromes;   Hashimoto's disease;   Hashimoto's syndrome;   Hashimotos Disease;   Hashimotos Syndrome;   chronic lymphocytic thyroiditides
 narrow_synonym: HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES
 primary_id: MESH:D050031
 alt_id: OMIM:140300
 xref: EFO:0003779;   NCI:C27191


show annotations for term's descendants           Sort by:
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 3:89,842,393...89,874,577
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 3:153,790,372...153,805,279
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)
ClinVar Annotator: match by term: Hashimoto Disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 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 6:94,858,438...94,909,630
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 1:231,798,963...231,832,591
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 8:19,553,063...19,565,438
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
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 chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        autoimmune disease of endocrine system 451
          autoimmune thyroiditis 37
            Hashimoto Disease 23
              Autoimmune Hypothyroidism 1
              Hashimoto's Encephalitis 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          primary immunodeficiency disease 4144
            autoimmune disease 2319
              autoimmune disease of endocrine system 451
                autoimmune thyroiditis 37
                  Hashimoto Disease 23
                    Autoimmune Hypothyroidism 1
                    Hashimoto's Encephalitis 0
paths to the root