OBO ID: DOID:0080030 |
Term Name: | spondyloepimetaphyseal dysplasia, Missouri type | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080030 ) |
OTHER spondyloepimetaphyseal dysplasia, Missouri type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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