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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
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Accession:DOID:0050794 term browser browse the term
Definition:A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. (DO)
Synonyms:primary_id: RDO:9004923
 xref: OMIM:PS186500
For additional species annotation, visit the Alliance of Genome Resources.


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multiple synostoses syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Gdf5 growth differentiation factor 5 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar PMID:16532400 RGD:12738199 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868, PMID:10080184, PMID:16151340 RGD:1600234, RGD:12801467 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
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 term: Multiple synostoses syndrome 2
ClinVar Annotator: match by OMIM:610017
OMIM
ClinVar
PMID:16127465 PMID:16532400 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
Multiple Synostoses Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 3
ClinVar Annotator: match by OMIM:612961
OMIM
ClinVar
PMID:19589401 PMID:28492532 PMID:28730625 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
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 ClinVar
OMIM
PMID:25741868 PMID:26643732 PMID:29130651 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      multiple synostoses syndrome 4
        Multiple Synostoses Syndrome 1 3
        Multiple Synostoses Syndrome 2 1
        Multiple Synostoses Syndrome 3 1
        Multiple Synostoses Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                synostosis 228
                  multiple synostoses syndrome 4
                    Multiple Synostoses Syndrome 1 3
                    Multiple Synostoses Syndrome 2 1
                    Multiple Synostoses Syndrome 3 1
                    Multiple Synostoses Syndrome 4 1
paths to the root