has material basis in germline mutation in B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/8522 https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures DOID:0112198 Orphanet:642099 MONDO:0010075 OMIM:271640 UMLS:C4017377 GARD:0024706 B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6 MEDGEN:865814 spondyloepimetaphyseal dysplasia with joint laxity, Beighton type SEMDJL Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. spondyloepimetaphyseal dysplasia with joint laxity B3GALT6-congenital disorder of glycosylation