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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:Silver-Russell Syndrome 3
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Accession:DOID:9002163 term browser browse the term
Synonyms:exact_synonym: GRDF;   SRS3;   severe growth restriction with distinctive facies
 primary_id: OMIM:616489
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Silver-Russell Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies OMIM
ClinVar
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies ClinVar PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Silver-Russell syndrome 7
        Silver-Russell Syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Skin and Connective Tissue Diseases 5626
        connective tissue disease 4357
          bone disease 3042
            bone development disease 1372
              Dwarfism 489
                Silver-Russell syndrome 7
                  Silver-Russell Syndrome 3 2
paths to the root