bent bone dysplasia syndrome 2

Term ID

DOID:0060993

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. https://pubmed.ncbi.nlm.nih.gov/33242826/

References

• MIM:620076

Ontology

Human Disease   ( DOID:0060993 )