FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term bent bone dysplasia syndrome 1 ID (Ontology) DOID:0060992 (Human Disease)
Definition A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
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 Genes
 bent bone dysplasia syndrome 1       2
 for disease ribbon | bent bone dysplasia syndrome 1       2
 model of | bent bone dysplasia syndrome 1       2
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autosomal genetic disease
 |__autosomal dominant disease__
bone disease                    |
 |__bone remodeling disease_____|
                                bent bone dysplasia syndrome 1  2 rec.
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Is a autosomal dominant disease
bone remodeling disease
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MIM:614592