OBO ID: DOID:0080030
Term Name: spondyloepimetaphyseal dysplasia, Missouri type Search Ontology:
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 spondyloepimetaphyseal dysplasia, Missouri type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMP13 ?Spondyloepimetaphyseal dysplasia, Missouri type 602111
Metaphyseal anadysplasia 1 602111
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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