spondyloepimetaphyseal dysplasia with joint laxity
A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0017742
obsolete disorder of O-xylosylglycan synthesis (obsolete MONDO:0017742)
excluded_subClassOf
MONDO:0018292
obsolete congenital disorder of glycosylation-related bone disorder (obsolete MONDO:0018292)
excluded_subClassOf
MONDO:0018293
obsolete congenital disorder of glycosylation with skin involvement (obsolete MONDO:0018293)
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMD-JL
exact
SEMDJL
exact
SEMDJL1
narrow
spondyloepimetaphyseal dysplasia joint laxity
related
spondyloepimetaphyseal dysplasia with joint laxity
exact
spondyloepimetaphyseal dysplasia with joint laxity type 1
narrow
spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
narrow
SPCC1183.01 SPBC1604.20c SPBC1921.06c