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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: MIM:618886



show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97409
    disease of anatomical entity 91029
      immune system disease 14971
        Pseudo-TORCH Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 97409
    disease of anatomical entity 91029
      nervous system disease 52991
        central nervous system disease 38404
          brain disease 36112
            disease of mental health 29567
              Neurodevelopmental Disorders 16406
                Developmental Disabilities 1478
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 3 1
paths to the root