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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.
Mondo Term and Equivalent IDs
MONDO:0013064:  multiple synostoses syndrome 3
MESH:C567839: 
UMLS:C2751826: