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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: MIM:615483
 alt_id: RDO:9000962


show annotations for term's descendants           Sort by:
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, B polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5		 OMIM
CTD
ClinVar		 PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16112
    Nutritional and Metabolic Diseases 7426
      disease of metabolism 7426
        mineral metabolism disease 922
          calcium metabolism disease 602
            calcinosis 532
              basal ganglia calcification 296
                Idiopathic Basal Ganglia Calcification 5 1
Path 2
Term Annotations click to browse term
  disease 16112
    Nutritional and Metabolic Diseases 7426
      disease of metabolism 7426
        acquired metabolic disease 2330
          mineral metabolism disease 922
            calcium metabolism disease 602
              calcinosis 532
                basal ganglia calcification 296
                  Idiopathic Basal Ganglia Calcification 5 1
paths to the root