Term Name:	bent bone dysplasia syndrome 2
Synonyms:
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.
Ontology:	Human Disease [DOID:0060993]   ( DOID:0060993 )