Details of Disease

General Information of Disease (ID: DIS6RWVX)

Disease Name Multiple synostoses syndrome 3
Synonyms SYNS3; multiple synostoses syndrome 3; multiple synostoses syndrome caused by mutation in FGF9; multiple synostoses syndrome type 3; FGF9 multiple synostoses syndrome
Definition Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
Disease Hierarchy
DISGA3UA: Multiple synostoses syndrome
DIS6RWVX: Multiple synostoses syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013064
MESH ID
C567839
UMLS CUI
C2751826
OMIM ID
612961
MedGen ID
414116

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGF9 OT2SKDGM Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet. 2009 Jul;85(1):53-63. doi: 10.1016/j.ajhg.2009.06.007.