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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
 primary_id: OMIM:616489
 alt_id: severe growth restriction with distinctive facies
For additional species annotation, visit the Alliance of Genome Resources.


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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 16023
    syndrome 7003
      Silver-Russell syndrome 7
        Silver-Russell Syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              Dwarfism 495
                Silver-Russell syndrome 7
                  Silver-Russell Syndrome 3 2
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.