Term Name:	spondyloepimetaphyseal dysplasia with joint laxity type 1
Synonyms:	SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Definition:	A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.
Ontology:	Human Disease [DOID:0112198]   ( DOID:0112198 )