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spondyloepimetaphyseal dysplasia, Irapa type

Disease Summary
Associated Targets (0)

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Mondo Description Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Mondo Term and Equivalent IDs
MONDO:0010076:  spondyloepimetaphyseal dysplasia, Irapa type
MESH:C562958: 
Orphanet:93351: 
SCTID:717330004: 
UMLS:C0432213: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found