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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 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chrNW_004936515:5,448,490...5,459,295 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Nervous System Malformations 2280
          Aicardi-Goutieres syndrome 202
            Aicardi-Goutieres Syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        acquired metabolic disease 2142
          mineral metabolism disease 927
            calcium metabolism disease 566
              calcinosis 502
                basal ganglia calcification 280
                  Aicardi-Goutieres syndrome 202
                    Aicardi-Goutieres Syndrome 8 1
paths to the root