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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 1
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Accession:DOID:9007546 term browser browse the term
Definition:Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic. (OMIM)
Synonyms:exact_synonym: BSPDC;   Cerebrovascular ferrocalcinosis;   Familial idiopathic basal ganglia calcification;   Fibgc;   IBGC1;   adult-onset idiopathic nonarteriosclerotic cerebral calcification;   bilateral striopallidodentate calcinosis;   striopallidodentate calcinosis;   striopallidodentate calcinosis, autosomal dominant, adult onset
 related_synonym: IBGC2;   IBGC3;   familial Fahr disease;   idiopathic basal ganglia calcification 2;   idiopathic basal ganglia calcification 3
 primary_id: OMIM:213600
 alt_id: MESH:C536275;   MESH:C537657
For additional species annotation, visit the Alliance of Genome Resources.

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Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407 		JBrowse link
G FNTA farnesyltransferase, CAAX box, alpha IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,849,637...42,897,294
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:27726124 PMID:28477710 PMID:28492532 NCBI chr 8:42,416,475...42,542,143
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195
Ensembl chr 8:42,541,155...42,555,195 		JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18966
    disease of anatomical entity 17449
      nervous system disease 13510
        neurodegenerative disease 3560
          Idiopathic Basal Ganglia Calcification 1 10
Path 2
Term Annotations click to browse term
  disease 18966
    Nutritional and Metabolic Diseases 5121
      disease of metabolism 5121
        acquired metabolic disease 3132
          mineral metabolism disease 518
            calcium metabolism disease 349
              calcinosis 314
                basal ganglia calcification 28
                  Idiopathic Basal Ganglia Calcification 1 10
paths to the root