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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:Pseudo-TORCH Syndrome 3
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Accession:DOID:9006806 term browser browse the term
Synonyms:exact_synonym: PTORCH3
 primary_id: OMIM:618886
For additional species annotation, visit the Alliance of Genome Resources.


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Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 3 ClinVar
OMIM
PMID:31836668, PMID:32092142 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      immune system disease 2927
        Pseudo-TORCH Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 3 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.