has material basis in germline mutation in BGN X-linked spondyloepimetaphyseal dysplasia https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_x_linked_2 UMLS:C1848097 spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia X-linked DOID:0112150 X-linked form of spondyloepimetaphyseal dysplasia. Orphanet:93349 MEDGEN:376281 MONDO:0010248 spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive OMIM:300106 GARD:0004979 MESH:C564714 SEMD, X-linked SEMD X-linked SEMDX spondylo-epimetaphyseal dysplasia spondyloepiphyseal dysplasia