Term Name: | bent bone dysplasia syndrome 2 |
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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 ) |