Version: 8.0.0
Date: Tue Jan 28 2025
bent bone dysplasia syndrome 1
DOID:0060992
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

bent bone dysplasia syndrome 1

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
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Sources of Associations

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      Associated Models

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