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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
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Accession:DOID:9002061 term browser browse the term
Synonyms:xref: OMIM:PS251290



show annotations for term's descendants           Sort by:
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
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 OMIM
ClinVar
PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
JBrowse link
Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    syndrome 10787
      Pseudo-TORCH Syndrome 3
        Pseudo-TORCH Syndrome 2 1
        Pseudo-TORCH Syndrome 3 1
        pseudo-TORCH syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              Neurodevelopmental Disorders 6821
                Developmental Disabilities 775
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 1
                    Pseudo-TORCH Syndrome 3 1
                    pseudo-TORCH syndrome 1 1
paths to the root