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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 7
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Accession:DOID:9007487 term browser browse the term
Synonyms:exact_synonym: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE;   IBGC7
 primary_id: OMIM:618317
For additional species annotation, visit the Alliance of Genome Resources.


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Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 NCBI chr 5:57,873,404...57,882,008
Ensembl chr 5:57,876,498...57,881,944
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        neurodegenerative disease 3215
          Idiopathic Basal Ganglia Calcification 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        acquired metabolic disease 2752
          mineral metabolism disease 433
            calcium metabolism disease 272
              calcinosis 241
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 7 1
paths to the root