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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.


show annotations for term's descendants           Sort by:
 
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 chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Gdf5 growth differentiation factor 5 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Nog noggin ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		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 chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		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
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612 		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
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612 		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:25741868 PMID:28492532 PMID:28730625 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		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 5:22,996,246...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 17289
    syndrome 8166
      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 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                synostosis 242
                  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