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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, Childhood Onset
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Accession:DOID:9008702 term browser browse the term
Synonyms:exact_synonym: IBGC, childhood onset;   bilateral striopallidodentate calcinosis, childhood onset;   idiopathic nonarteriosclerotic cerebral calcification, childhood onset
 primary_id: MESH:C536276
 alt_id: OMIM:114100


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Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        mineral metabolism disease 920
          calcium metabolism disease 600
            calcinosis 531
              basal ganglia calcification 295
                Idiopathic Basal Ganglia Calcification, Childhood Onset 1
Path 2
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        acquired metabolic disease 2327
          mineral metabolism disease 920
            calcium metabolism disease 600
              calcinosis 531
                basal ganglia calcification 295
                  Idiopathic Basal Ganglia Calcification, Childhood Onset 1
paths to the root