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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 5
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Accession:DOID:9004933 term browser browse the term
Synonyms:exact_synonym: IBGC5
 primary_id: OMIM:615483
 alt_id: RDO:9000962

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Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar		 PMID:21409505 PMID:23913003 PMID:25741868 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mineral metabolism disease 927
          calcium metabolism disease 566
            calcinosis 502
              basal ganglia calcification 280
                Idiopathic Basal Ganglia Calcification 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        acquired metabolic disease 2142
          mineral metabolism disease 927
            calcium metabolism disease 566
              calcinosis 502
                basal ganglia calcification 280
                  Idiopathic Basal Ganglia Calcification 5 1
paths to the root