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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
 primary_id: OMIM:213600
 alt_id: MESH:C536275;   MESH:C537657



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 chr16:64,697,741...64,704,441
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 chr16:64,713,438...64,751,360
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 3:109,223,809...109,247,023
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 chr16:66,065,131...66,083,460
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 7:111,539,444...111,557,984
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 chr18:54,499,962...54,538,840
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 chr16:65,928,886...65,954,092
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: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
OMIM
CTD
ClinVar
PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 More... NCBI chr16:69,460,850...69,551,418
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: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 chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          Idiopathic Basal Ganglia Calcification 1 11
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          mineral metabolism disease 983
            calcium metabolism disease 602
              calcinosis 527
                basal ganglia calcification 290
                  Idiopathic Basal Ganglia Calcification 1 11
paths to the root