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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;   SLC20A2-RELATED CONDITION;   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
 xref: MESH:C536275;   MESH:C537657;   MIM:213600;   MONDO:0024538


show annotations for term's descendants           Sort by:
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 chr16:71,400,615...71,407,315
Ensembl chr16:64,697,741...64,704,441 		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 chr16:71,411,847...71,454,225
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1		 CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,631,638...72,656,893
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition		 OMIM
CTD
ClinVar		 PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More... NCBI chr16:76,163,315...76,253,881
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 PMID:27726124 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,608,096...72,612,690
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        neurodegenerative disease 5076
          Idiopathic Basal Ganglia Calcification 1 11
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 1 11
paths to the root