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Metadata
ID	DOID:0060992
Name	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. https://pubmed.ncbi.nlm.nih.gov/22387015/
Xrefs	MIM:614592
Parent Relationships	is_a autosomal dominant disease is_a bone remodeling disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance