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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. (OMIM)
Synonyms:exact_synonym: PTORCH2
 primary_id: OMIM:617397
 alt_id: RDO:9001724
For additional species annotation, visit the Alliance of Genome Resources.

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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
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2		 ClinVar
OMIM		 PMID:12833411, PMID:27325888, PMID:31940699 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      immune system disease 2931
        Pseudo-TORCH Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              Neurodevelopmental Disorders 4622
                Developmental Disabilities 692
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 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.