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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 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628 		JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar Annotator: match by OMIM:213600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:27726124 PMID:28477710 PMID:28492532 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:74,408,085...74,422,070
Ensembl chr16:74,408,183...74,422,215 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          Idiopathic Basal Ganglia Calcification 1 10
Path 2
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        acquired metabolic disease 2760
          mineral metabolism disease 433
            calcium metabolism disease 271
              calcinosis 241
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 1 10
paths to the root