Term Name: | bent bone dysplasia syndrome 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060992] ( DOID:0060992 ) |