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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
For additional species annotation, visit the Alliance of Genome Resources.


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 subunit B ISO ClinVar Annotator: match by OMIM:615483
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 5
OMIM
ClinVar
PMID:21409505 PMID:23913003 PMID:25741868 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mineral metabolism disease 433
          calcium metabolism disease 271
            calcinosis 241
              basal ganglia calcification 25
                Idiopathic Basal Ganglia Calcification 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        acquired metabolic disease 2760
          mineral metabolism disease 433
            calcium metabolism disease 271
              calcinosis 241
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 5 1
paths to the root