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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 4
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Accession:DOID:0081320 term browser browse the term
Definition:A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: SYNS4
 primary_id: MIM:617898
 alt_id: DOID:9009151


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multiple synostoses syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:26643732 PMID:29130651 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      multiple synostoses syndrome 4
        multiple synostoses syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Skin and Connective Tissue Diseases 7696
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              dysostosis 630
                synostosis 396
                  multiple synostoses syndrome 4
                    multiple synostoses syndrome 4 1
paths to the root