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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 8
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Accession:DOID:9001117 term browser browse the term
Definition:A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Caused by homozygous or compound heterozygous mutation in the LSM11 gene on chromosome 5q33. (OMIM)
Synonyms:exact_synonym: AGS8
 primary_id: OMIM:619486


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Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 U7 snRNP-specific Sm-like protein LSM11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr11:45,819,096...45,835,762
Ensembl chr11:45,819,096...45,835,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Nervous System Malformations 2399
          Aicardi-Goutieres syndrome 212
            Aicardi-Goutieres Syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        acquired metabolic disease 2327
          mineral metabolism disease 920
            calcium metabolism disease 600
              calcinosis 531
                basal ganglia calcification 295
                  Aicardi-Goutieres syndrome 212
                    Aicardi-Goutieres Syndrome 8 1
paths to the root