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
Accession: DOID:9007546
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Slc20a2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 PMID:24463626 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:29955172 PMID:30609140 PMID:30704756 PMID:31003906 PMID:31618668 PMID:32705272 PMID:33471268 PMID:34732400 More...
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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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
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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
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