| Metadata | |
|---|---|
| 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://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, http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some vertebral column has material basis in some autosomal dominant inheritance has phenotype some Pear-shaped vertebrae has phenotype some Genu varum |