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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:Aicardi-Goutieres Syndrome 5
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Accession:DOID:9007867 term browser browse the term
Synonyms:exact_synonym: AGS5;   Aicardi-Goutieres syndrome, autosomal dominant
 broad_synonym: SAMHD1-RELATED CONDITION
 primary_id: MESH:C535608
 alt_id: MIM:612952
 xref: NCI:C168564


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Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676 		JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Nervous System Malformations 2449
          Aicardi-Goutieres syndrome 233
            Aicardi-Goutieres Syndrome 5 11
Path 2
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        acquired metabolic disease 2528
          mineral metabolism disease 955
            calcium metabolism disease 627
              calcinosis 551
                basal ganglia calcification 315
                  Aicardi-Goutieres syndrome 233
                    Aicardi-Goutieres Syndrome 5 11
paths to the root