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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 2
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Accession:DOID:9001536 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway.
Synonyms:exact_synonym: PTORCH2
 primary_id: MIM:617397


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Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 OMIM
ClinVar		 PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      immune system disease 4930
        Pseudo-TORCH Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              Neurodevelopmental Disorders 6940
                Developmental Disabilities 778
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 1
paths to the root