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
Accession: DOID:0050629
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 .
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
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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
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
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
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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
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
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
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
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
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
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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
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
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
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
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
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
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
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
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
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
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
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