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spondyloepimetaphyseal dysplasia, Missouri type

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Uniprot Description A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011198:  spondyloepimetaphyseal dysplasia, Missouri type
GARD:0010618: 
Orphanet:93356: 
SCTID:719171005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)