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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 IAGP DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G C1S complement C1s EXP CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CAT catalase IEP protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP
EXP		 DNA:SNP:cds:+49A/G (rs231775)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hashimoto Disease		 OMIM
CTD
ClinVar
RGD		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... RGD:7421513 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G ESR2 estrogen receptor 2 no_association IAGP DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) RGD PMID:15242568 RGD:8662824 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma severity IAGP DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL6 interleukin 6 IAGP
EXP		 DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IEP RGD PMID:19924240 RGD:6483332 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G TG thyroglobulin no_association IDA
EXP
ISO
IAGP
IMP		 CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple		 CTD
RGD		 PMID:30373627 PMID:14636875 PMID:3052944 PMID:18656705 PMID:21559421 RGD:8548606, RGD:8548647, RGD:8548630, RGD:8548607 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 IAGP ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        autoimmune disease of endocrine system 418
          autoimmune thyroiditis 36
            Hashimoto Disease 23
              Autoimmune Hypothyroidism 1
              Hashimoto's Encephalitis 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Immune & Inflammatory Diseases 6729
        immune system disease 5892
          primary immunodeficiency disease 5019
            autoimmune disease 2537
              autoimmune disease of endocrine system 418
                autoimmune thyroiditis 36
                  Hashimoto Disease 23
                    Autoimmune Hypothyroidism 1
                    Hashimoto's Encephalitis 0
paths to the root