ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9001724
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PSEUDO-TORCH SYNDROME 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp18 ubiquitin specific peptidase 18 JBrowse link NW_004936807 1,090,928 1,116,166 RGD:9068941
RGD:7240710

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Path 1
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  disease 10652
    disease of anatomical entity 10186
      immune system disease 1971
        PSEUDO-TORCH SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 10652
    disease of anatomical entity 10186
      nervous system disease 7878
        central nervous system disease 6055
          brain disease 5602
            PSEUDO-TORCH SYNDROME 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.