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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;   IGF2-RELATED CONDITION;   SRS3;   severe growth restriction with distinctive facies
 primary_id: OMIM:616489


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: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 ClinVar PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Silver-Russell syndrome 9
        Silver-Russell Syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              Dwarfism 862
                Silver-Russell syndrome 9
                  Silver-Russell Syndrome 3 2
paths to the root