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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 4
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Accession:DOID:9000258 term browser browse the term
Synonyms:exact_synonym: AGS4;   RNASEH2A-RELATED CONDITION
 primary_id: MESH:C563681
 alt_id: OMIM:610333

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Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,508,417...11,524,011 JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,581,915...11,599,770 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14909
      nervous system disease 13001
        Nervous System Malformations 2350
          Aicardi-Goutieres syndrome 208
            Aicardi-Goutieres Syndrome 4 7
Path 2
Term Annotations click to browse term
  disease 15274
    Nutritional and Metabolic Diseases 7111
      disease of metabolism 7111
        acquired metabolic disease 2160
          mineral metabolism disease 900
            calcium metabolism disease 594
              calcinosis 523
                basal ganglia calcification 291
                  Aicardi-Goutieres syndrome 208
                    Aicardi-Goutieres Syndrome 4 7
paths to the root