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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 2
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Accession:DOID:9003907 term browser browse the term
Synonyms:exact_synonym: AGS2;   RNASEH2B-RELATED CONDITION
 primary_id: OMIM:610181
 xref: NCI:C165673



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Nervous System Malformations 2371
          Aicardi-Goutieres syndrome 209
            Aicardi-Goutieres Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          mineral metabolism disease 983
            calcium metabolism disease 602
              calcinosis 527
                basal ganglia calcification 290
                  Aicardi-Goutieres syndrome 209
                    Aicardi-Goutieres Syndrome 2 1
paths to the root