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multiple synostoses syndrome 1

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG 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:0008519:  multiple synostoses syndrome 1
GARD:0003836: 
UMLS:C0342282: