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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
:
gdf5,
fgf9,
nog,
gdf6
| MONDO:0017923 - multiple synostoses syndrome |
| MIM:186500 - MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 |
| MIM:610017 - MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 |
| MIM:612961 - MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3 |
Other Model Organisms: Alliance, 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)