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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;   XPR1-RELATED PRIMARY FAMILIAL BRAIN CALCIFICATION
 primary_id: OMIM:616413
 alt_id: RDO:9001373


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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 Annotator: match by term: XPR1-related primary familial brain calcification
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        neurodegenerative disease 4893
          Idiopathic Basal Ganglia Calcification 6 1
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        acquired metabolic disease 2535
          mineral metabolism disease 983
            calcium metabolism disease 602
              calcinosis 527
                basal ganglia calcification 290
                  Idiopathic Basal Ganglia Calcification 6 1
paths to the root