spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
MONDO:0019675
spondyloepimetaphyseal dysplasia with joint laxity
is_a
MONDO:0100586
B3GALT6-congenital disorder of glycosylation
is_a
B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity
exact
SEMDJL
broad
SEMDJL1
exact
spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6
exact
spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
exact
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
exact
SPBC1921.06c