Term Name: | multiple synostoses syndrome 3 |
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Synonyms: | |
Definition: | A multiple synostoses syndrome that 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 FGF9 gene on chromosome 13q12. |
Ontology: | Human Disease [DOID:0081319] ( DOID:0081319 ) |