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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912, PMID:23001123 RGD:11069491 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:28492532 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:30219631 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:30219631 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:32488064 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by OMIM:610329
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
OMIM
ClinVar
PMID:16845400 PMID:17846997 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29150899 PMID:29389947 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:15870678 PMID:16845400 PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27943079 PMID:28492532 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:19525956 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24316776 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202 PMID:15955093 PMID:16817193 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26372505 PMID:26629815 PMID:27937139 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912 PMID:32996714 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:28319323 PMID:28492532 PMID:28605144 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31898846 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Aicardi-Goutieres syndrome 11
        Aicardi-Goutieres Syndrome 1 2
        Aicardi-Goutieres Syndrome 2 1
        Aicardi-Goutieres Syndrome 3 2
        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 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        acquired metabolic disease 2760
          mineral metabolism disease 433
            calcium metabolism disease 271
              calcinosis 241
                basal ganglia calcification 25
                  Aicardi-Goutieres syndrome 11
                    Aicardi-Goutieres Syndrome 1 2
                    Aicardi-Goutieres Syndrome 2 1
                    Aicardi-Goutieres Syndrome 3 2
                    Aicardi-Goutieres Syndrome 4 1
                    Aicardi-Goutieres Syndrome 5 2
                    Aicardi-Goutieres Syndrome 6 1
                    Aicardi-Goutieres Syndrome 7 1
paths to the root