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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:Multiple Synostoses Syndrome 2
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Accession:DOID:9006580 term browser browse the term
Synonyms:exact_synonym: SYNS2
 primary_id: MESH:C537380
 alt_id: OMIM:610017
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Multiple Synostoses Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by OMIM:610017
ClinVar Annotator: match by term: Multiple synostoses syndrome 2
OMIM
ClinVar
PMID:16127465 PMID:16532400 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      multiple synostoses syndrome 4
        Multiple Synostoses Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        connective tissue disease 4452
          bone disease 3125
            bone development disease 1423
              dysostosis 390
                synostosis 241
                  multiple synostoses syndrome 4
                    Multiple Synostoses Syndrome 2 1
paths to the root