FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term multiple synostoses syndrome 3 ID (Ontology) DOID:0081319 (Human Disease)
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.
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 multiple synostoses syndrome 3       1
 for disease ribbon | multiple synostoses syndrome 3       1
 model of | multiple synostoses syndrome 3       1
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autosomal dominant disease__
dysostosis__________________|
                            multiple synostoses syndrome
                             |__multiple synostoses syndrome 3  1 rec.
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MIM:612961