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ONTOLOGY REPORT - ANNOTATIONS


Term:Aicardi-Goutieres syndrome
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Accession:DOID:0050629 term browser browse the term
Definition:An autosomal genetic disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)
Synonyms:exact_synonym: AGS;   Cree encephalitis;   encephalopathy with basal ganglia calcification;   familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis;   pseudo-TORCH syndrome;   pseudotoxoplasmosis syndrome
 primary_id: MESH:C535607
 alt_id: RDO:0000828
 xref: GARD:575;   ORDO:51
For additional species annotation, visit the Alliance of Genome Resources.


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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 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 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
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Aicardi-Goutieres syndrome 11
        Aicardi-Goutieres Syndrome 1 1
        Aicardi-Goutieres Syndrome 2 1
        Aicardi-Goutieres Syndrome 3 1
        Aicardi-Goutieres Syndrome 4 1
        Aicardi-Goutieres Syndrome 5 2
        Aicardi-Goutieres Syndrome 6 1
        Aicardi-Goutieres Syndrome 7 1
        pseudo-TORCH syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        acquired metabolic disease 2562
          mineral metabolism disease 295
            calcium metabolism disease 149
              calcinosis 119
                basal ganglia calcification 24
                  Aicardi-Goutieres syndrome 11
                    Aicardi-Goutieres Syndrome 1 1
                    Aicardi-Goutieres Syndrome 2 1
                    Aicardi-Goutieres Syndrome 3 1
                    Aicardi-Goutieres Syndrome 4 1
                    Aicardi-Goutieres Syndrome 5 2
                    Aicardi-Goutieres Syndrome 6 1
                    Aicardi-Goutieres Syndrome 7 1
                    pseudo-TORCH syndrome 1 1
paths to the root