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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/ |
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DO_rare_slim |
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