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ONTOLOGY REPORT - ANNOTATIONS


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;   Bilateral Striopallidodentate Calcinosis;   Cerebrovascular ferrocalcinosis;   Familial idiopathic basal ganglia calcification;   Fibgc;   IBGC1;   adult-onset idiopathic nonarteriosclerotic cerebral calcification;   striopallidodentate calcinosis;   striopallidodentate calcinosis, autosomal dominant, adult onset
 related_synonym: IBGC2;   IBGC3;   Idiopathic Basal Ganglia Calcification 2;   familial Fahr disease;   idiopathic basal ganglia calcification 3
 primary_id: MESH:C536275
 alt_id: MESH:C537657;   OMIM:213600
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Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit JBrowse link 16 68,860,018 68,866,718 RGD:8554872
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit JBrowse link 16 68,876,442 68,913,628 RGD:8554872
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:11554173
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:11554173
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:7240710
RGD:8554872
RGD:11554173
G Smim19 small integral membrane protein 19 JBrowse link 16 74,408,085 74,422,070 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872

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Path 1
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        neurodegenerative disease 3139
          Idiopathic Basal Ganglia Calcification 1 10
Path 2
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        acquired metabolic disease 2729
          mineral metabolism disease 420
            calcium metabolism disease 266
              calcinosis 238
                basal ganglia calcification 25
                  Idiopathic Basal Ganglia Calcification 1 10
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.