has material basis in germline mutation in disease has feature MMP13 Spondyloepimetaphyseal dysplasia Genu varum Pear-shaped vertebrae spondyloepimetaphyseal dysplasia, Missouri type https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_missouri_type Orphanet:93356 Missouri type of spondyloepimetaphyseal dysplasia icd11.foundation:1593289281 UMLS:C1865832 SCTID:719171005 MEDGEN:355563 GARD:0010618 DOID:0080030 OMIM:602111 SEMD type 2 A spondyloepimetaphyseal dysplasia 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. SEMD Missouri type spondyloepimetaphyseal dysplasia type 2 SEMD, Missouri type spondyloepimetaphyseal dysplasia Missouri type spondyloepimetaphyseal dysplasia, Missouri type MONDO:0011198 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia