FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepimetaphyseal dysplasia, Missouri type ID (Ontology) DOID:0080030 (Human Disease)
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.
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 Genes
 spondyloepimetaphyseal dysplasia, Missouri type       1
 for disease ribbon | spondyloepimetaphyseal dysplasia, Missouri type       1
 model of | spondyloepimetaphyseal dysplasia, Missouri type       1
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autosomal genetic disease
 |__autosomal dominant disease________
spinal disease                        |
 |__spondyloepimetaphyseal dysplasia__|
osteochondrodysplasia                 |
 |__spondyloepimetaphyseal dysplasia__|
                                      spondyloepimetaphyseal dysplasia, Missouri type  1 rec.
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Is a autosomal dominant disease
spondyloepimetaphyseal dysplasia
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Synonyms
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GARD:10618
MESH:C566574
MIM:602111
ORDO:93356