Version: 8.0.0
Date: Tue Jan 28 2025
bent bone dysplasia syndrome 2
DOID:0060993
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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Sources of Associations

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