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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 9
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Accession:DOID:9008685 term browser browse the term
Definition:This disease is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits.
Synonyms:exact_synonym: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE;   IBGC9
 xref: MIM:620786;   MONDO:0968977


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Idiopathic Basal Ganglia Calcification 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive ClinVar
OMIM		 PMID:38480682 NCBI chr10:12,129,026...12,149,053
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        mineral metabolism disease 960
          calcium metabolism disease 631
            calcinosis 553
              basal ganglia calcification 316
                Idiopathic Basal Ganglia Calcification 9 1
Path 2
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        acquired metabolic disease 2544
          mineral metabolism disease 960
            calcium metabolism disease 631
              calcinosis 553
                basal ganglia calcification 316
                  Idiopathic Basal Ganglia Calcification 9 1
paths to the root