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multiple synostoses syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tdark

1


Mondo Description Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Disease Ontology Description A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
Mondo Term and Equivalent IDs
MONDO:0017923:  multiple synostoses syndrome
OMIMPS:186500: 
Orphanet:3237: 
UMLS:CN204052: