FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term bent bone dysplasia syndrome 2 ID (Ontology) DOID:0060993 (Human Disease)
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.
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 Genes
 bent bone dysplasia syndrome 2       1
 for disease ribbon | bent bone dysplasia syndrome 2       1
 model of | bent bone dysplasia syndrome 2       1
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autosomal genetic disease
 |__autosomal recessive disease__
bone disease                     |
 |__bone remodeling disease______|
                                 bent bone dysplasia syndrome 2  1 rec.
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Is a autosomal recessive disease
bone remodeling disease
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MIM:620076