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ID DOID:0080030
Name spondyloepimetaphyseal dysplasia, Missouri type
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.
http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx, http://www.ncbi.nlm.nih.gov/omim/602111, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple
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OMIM:602111

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is_a spondyloepimetaphyseal dysplasia

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