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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:0081318 term browser browse the term
Definition:A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: SYNS2
 primary_id: MESH:C537380
 alt_id: DOID:9006580;   MIM:610017
 xref: GARD:9916


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple synostoses syndrome 2		 OMIM
CTD
ClinVar		 PMID:9024575 PMID:9288091 PMID:16127465 PMID:16532400 PMID:17384641 More... NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      multiple synostoses syndrome 4
        multiple synostoses syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7809
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  multiple synostoses syndrome 4
                    multiple synostoses syndrome 2 1
paths to the root