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ONTOLOGY REPORT - ANNOTATIONS


Term:Aicardi-Goutieres syndrome
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Accession:DOID:0050629 term browser browse the term
Definition:A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid 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;   pseudotoxoplasmosis syndrome
 primary_id: MESH:C535607
 xref: GARD:575;   ICD10CM:G31.8;   OMIM:PS225750;   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 4 95,154,230 95,197,308 RGD:9068941
G ATRIP ATR interacting protein JBrowse link 13 31,159,849 31,178,716 RGD:9068941
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 15 68,930,998 68,985,145 RGD:9068941
G KAT5 lysine acetyltransferase 5 JBrowse link 2 6,560,544 6,572,461 RGD:9068941
G RNASEH2A ribonuclease H2 subunit A JBrowse link 2 66,192,785 66,208,417 RGD:9068941
G RNASEH2B ribonuclease H2 subunit B JBrowse link 11 16,825,799 16,911,959 RGD:9068941
G RNASEH2C ribonuclease H2 subunit C JBrowse link 2 6,563,093 6,564,281 RGD:9068941
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 17 40,117,348 40,171,935 RGD:9068941
G TLDC2 TBC/LysM-associated domain containing 2 JBrowse link 17 40,105,500 40,118,743 RGD:9068941
G TREX1 three prime repair exonuclease 1 JBrowse link 13 31,177,604 31,180,764 RGD:9068941
G USP18 ubiquitin specific peptidase 18 JBrowse link 5 70,183,321 70,227,990 RGD:9068941
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATRIP ATR interacting protein JBrowse link 13 31,159,849 31,178,716 RGD:9068941
G TREX1 three prime repair exonuclease 1 JBrowse link 13 31,177,604 31,180,764 RGD:7240710
RGD:9068941
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNASEH2B ribonuclease H2 subunit B JBrowse link 11 16,825,799 16,911,959 RGD:7240710
RGD:9068941
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNASEH2C ribonuclease H2 subunit C JBrowse link 2 6,563,093 6,564,281 RGD:7240710
RGD:9068941
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNASEH2A ribonuclease H2 subunit A JBrowse link 2 66,192,785 66,208,417 RGD:7240710
RGD:9068941
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 17 40,117,348 40,171,935 RGD:7240710
RGD:9068941
G TLDC2 TBC/LysM-associated domain containing 2 JBrowse link 17 40,105,500 40,118,743 RGD:9068941
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 4 95,154,230 95,197,308 RGD:7240710
RGD:9068941
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 15 68,930,998 68,985,145 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12020
    syndrome 4826
      Aicardi-Goutieres syndrome 11
        Aicardi-Goutieres Syndrome 1 2
        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
Path 2
Term Annotations click to browse term
  disease 12020
    Nutritional and Metabolic Diseases 3329
      disease of metabolism 3329
        acquired metabolic disease 2027
          mineral metabolism disease 402
            calcium metabolism disease 258
              calcinosis 229
                basal ganglia calcification 24
                  Aicardi-Goutieres syndrome 11
                    Aicardi-Goutieres Syndrome 1 2
                    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
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.