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multiple synostoses syndrome 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
Uniprot Description A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567839
OMIM:612961
UMLS:C2751826
MONDO:0013064
High level summary of knowledge for a disease, including descriptions and datasource references.