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
Accession: DOID:0050794
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 .
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all