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DOID:0081317 - multiple synostoses syndrome 1
Disease Ontology Definition:A multiple synostoses syndrome is 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 and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
Synonyms:
Xenbase Genes
:
nog
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
multiple synostoses syndrome (is_a)