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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 4
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Accession:DOID:9000858 term browser browse the term
Synonyms:exact_synonym: IBGC4
 primary_id: OMIM:615007
 alt_id: RDO:9000194
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by OMIM:615007
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
OMIM
ClinVar
PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25158255 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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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 4 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 4 1
paths to the root