Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 6:121,245,906...121,270,917
Ensembl chr 6:121,245,906...121,270,917
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13345
    disease of anatomical entity 12825
      immune system disease 2625
        Pseudo-TORCH Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 13345
    disease of anatomical entity 12825
      nervous system disease 10383
        central nervous system disease 8754
          brain disease 8092
            disease of mental health 5907
              Neurodevelopmental Disorders 4628
                Developmental Disabilities 655
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 1
paths to the root

NHLBI Logo

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