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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:Idiopathic Basal Ganglia Calcification 6
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Accession:DOID:9005299 term browser browse the term
Synonyms:exact_synonym: IBGC6
 primary_id: OMIM:616413
 alt_id: RDO:9001373
For additional species annotation, visit the Alliance of Genome Resources.


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Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 ClinVar
OMIM
PMID:886353 PMID:25741868 PMID:25938945 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        neurodegenerative disease 3353
          Idiopathic Basal Ganglia Calcification 6 1
Path 2
Term Annotations click to browse term
  disease 16937
    Nutritional and Metabolic Diseases 5219
      disease of metabolism 5219
        acquired metabolic disease 2796
          mineral metabolism disease 470
            calcium metabolism disease 276
              calcinosis 240
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 6 1
paths to the root