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RGD uses the Human Disease Ontology (DO, 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 OMIM NCBI chrNW_004936807:1,090,928...1,116,166 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      immune system disease 2337
        Pseudo-TORCH Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      nervous system disease 9416
        central nervous system disease 7960
          brain disease 7362
            disease of mental health 5338
              Neurodevelopmental Disorders 4234
                Developmental Disabilities 627
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.