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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 8
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Accession:DOID:9007160 term browser browse the term
Synonyms:exact_synonym: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE;   IBGC8
 primary_id: OMIM:618824
For additional species annotation, visit the Alliance of Genome Resources.


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Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        mineral metabolism disease 432
          calcium metabolism disease 271
            calcinosis 241
              basal ganglia calcification 25
                Idiopathic Basal Ganglia Calcification 8 1
Path 2
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        acquired metabolic disease 2762
          mineral metabolism disease 432
            calcium metabolism disease 271
              calcinosis 241
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 8 1
paths to the root