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 6 121,245,906 121,270,917 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 11726
    disease of anatomical entity 11187
      immune system disease 2120
        PSEUDO-TORCH SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 11726
    disease of anatomical entity 11187
      nervous system disease 8520
        central nervous system disease 6550
          brain disease 6072
            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.