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Metadata
ID	DOID:0060993
Name	bent bone dysplasia syndrome 2
Definition	A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/33242826/
Xrefs	MIM:620076
Parent Relationships	is_a autosomal recessive disease is_a bone remodeling disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance