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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
For additional species annotation, visit the Alliance of Genome Resources.


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: Band-like calcification with simplified gyration and polymicrogyria
ClinVar Annotator: match by OMIM:251290
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:19012351, PMID:20727516, PMID:25741868 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
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
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2
ClinVar
OMIM
PMID:12833411, PMID:27325888, PMID:31940699 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
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 ClinVar
OMIM
PMID:31836668, PMID:32092142 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  Pseudo-TORCH Syndrome 3
                    Pseudo-TORCH Syndrome 2 1
                    Pseudo-TORCH Syndrome 3 1
                    pseudo-TORCH syndrome 1 1
paths to the root

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