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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;   JAM2-RELATED CONDITION
 primary_id: MIM:618824


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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 | ClinVar Annotator: match by term: JAM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr11:37,316,287...37,366,517
Ensembl chr11:23,831,106...23,880,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        mineral metabolism disease 959
          calcium metabolism disease 630
            calcinosis 553
              basal ganglia calcification 316
                Idiopathic Basal Ganglia Calcification 8 1
Path 2
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2539
          mineral metabolism disease 959
            calcium metabolism disease 630
              calcinosis 553
                basal ganglia calcification 316
                  Idiopathic Basal Ganglia Calcification 8 1
paths to the root