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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 chr17:11,725,880...11,739,949
Ensembl chr17:11,725,375...11,739,747
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 chr17:11,687,646...11,714,357
Ensembl chr17:11,687,557...11,722,183
JBrowse link
G FNTA farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,357...11,978,915
JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,817,987...11,924,884
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913003 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,817,483
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO OMIM NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,550,343
JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,549,907...11,566,898
Ensembl chr17:11,549,937...11,566,898
JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,148...11,817,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        neurodegenerative disease 2993
          Idiopathic Basal Ganglia Calcification 1 10
Path 2
Term Annotations click to browse term
  disease 12693
    Nutritional and Metabolic Diseases 3626
      disease of metabolism 3626
        acquired metabolic disease 2091
          mineral metabolism disease 415
            calcium metabolism disease 262
              calcinosis 233
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 1 10
paths to the root