Search Ontology:
Human Disease
spondyloepimetaphyseal dysplasia, Missouri type
- Term ID
- DOID:0080030
- Synonyms
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- Definition
- A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (3)
- References
- Ontology
- Human Disease ( DOID:0080030 )
- is a type of
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Genes Involved
Zebrafish Models