has material basis in germline mutation in disease has feature COL2A1 Pectus carinatum Platyspondyly Talipes equinovarus Spondyloepimetaphyseal dysplasia Coxa vara Hyperlordosis Short stature scoliosis spondyloepimetaphyseal dysplasia, Strudwick type https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_strudwick_type OMIM:184250 SMED Strudwick type DOID:0080028 SMED type 1 MONDO:0008476 SCTID:702350003 SmD Orphanet:93346 A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). SEMDSTWK MEDGEN:147134 ICD9:758.89 spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia Strudwick type GARD:0000134 NANDO:2201349 UMLS:C0700635 spondyloepiphyseal dysplasia spondylometaphyseal dysplasia type 2 collagenopathy spondyloepimetaphyseal dysplasia