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ID DOID:0081319
Name multiple synostoses syndrome 3
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.
https://pubmed.ncbi.nlm.nih.gov/28730625/
Xrefs

MIM:612961

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DO_rare_slim

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is_a multiple synostoses syndrome

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