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Repository for lectin-assisted multimodality data
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MIRAGE
bent bone dysplasia syndrome 2
Summary
- 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.
- Super Class
- autosomal recessive disease bone remodeling disease
External Links
- Disease Ontology
- DOID:0060993
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15230 | Laminin subunit alpha-5 |
