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ONTOLOGY REPORT - ANNOTATIONS


Term:basal ganglia calcification
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Accession:DOID:0060230 term browser browse the term
Definition:A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)
Synonyms:exact_synonym: Fahr disease
 primary_id: RDO:9004937
 xref: NCI:C129973;   OMIM:PS213600
For additional species annotation, visit the Alliance of Genome Resources.


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basal ganglia calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:13592920
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:13592920
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:13592920
Aicardi-Goutieres syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:11554173
RGD:8554872
RGD:11069491
G Atrip ATR interacting protein JBrowse link 8 117,797,954 117,811,989 RGD:8554872
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:8554872
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:8554872
RGD:13592920
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:11554173
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:8554872
RGD:13592920
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
RGD:8554872
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:11554173
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:11554173
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrip ATR interacting protein JBrowse link 8 117,797,954 117,811,989 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:7240710
RGD:8554872
RGD:11554173
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
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
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:7240710
RGD:8554872
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xpr1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 13 72,918,552 73,056,785 RGD:8554872
RGD:7240710
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myorg myogenesis regulating glycosidase JBrowse link 5 57,873,404 57,882,008 RGD:8554872
RGD:7240710
Immunodeficiency 38, with Basal Ganglia Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isg15 ISG15 ubiquitin-like modifier JBrowse link 5 173,624,862 173,629,124 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mineral metabolism disease 411
          calcium metabolism disease 263
            calcinosis 234
              basal ganglia calcification 24
                Aicardi-Goutieres syndrome + 11
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 10
                Idiopathic Basal Ganglia Calcification 2 0
                Idiopathic Basal Ganglia Calcification 4 1
                Idiopathic Basal Ganglia Calcification 5 1
                Idiopathic Basal Ganglia Calcification 6 1
                Idiopathic Basal Ganglia Calcification 7 1
                Idiopathic Basal Ganglia Calcification, Childhood Onset 0
                Immunodeficiency 38, with Basal Ganglia Calcification 1
Path 2
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2700
          mineral metabolism disease 411
            calcium metabolism disease 263
              calcinosis 234
                basal ganglia calcification 24
                  Aicardi-Goutieres syndrome + 11
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 10
                  Idiopathic Basal Ganglia Calcification 2 0
                  Idiopathic Basal Ganglia Calcification 4 1
                  Idiopathic Basal Ganglia Calcification 5 1
                  Idiopathic Basal Ganglia Calcification 6 1
                  Idiopathic Basal Ganglia Calcification 7 1
                  Idiopathic Basal Ganglia Calcification, Childhood Onset 0
                  Immunodeficiency 38, with Basal Ganglia Calcification 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.