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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 7
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Accession:DOID:9002571 term browser browse the term
Definition:An autosomal dominant inflammatory disorder characterized by severe neurologic impairment. (OMIM)
Synonyms:exact_synonym: AGS7
 primary_id: OMIM:615846
 xref: NCI:C168585

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Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      nervous system disease 12089
        Nervous System Malformations 2245
          Aicardi-Goutieres syndrome 201
            Aicardi-Goutieres Syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6698
      disease of metabolism 6698
        acquired metabolic disease 2115
          mineral metabolism disease 914
            calcium metabolism disease 558
              calcinosis 494
                basal ganglia calcification 279
                  Aicardi-Goutieres syndrome 201
                    Aicardi-Goutieres Syndrome 7 1
paths to the root