multiple synostoses syndrome

Summary

DOID:0050794 - multiple synostoses syndrome

Disease Ontology Definition:A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gdf5, fgf9, nog, gdf6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017923 - multiple synostoses syndrome

MONDO:0017923 - multiple synostoses syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dysostosis (is_a)