Search Ontology:
Human Disease

spondyloepimetaphyseal dysplasia, Missouri type

Term ID
DOID:0080030
Synonyms
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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