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DOID:0112198 - spondyloepimetaphyseal dysplasia with joint laxity type 1
Disease Ontology 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.
Synonyms: SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures,
Xenbase Genes
:
b3galt6
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
spondyloepimetaphyseal dysplasia with joint laxity (is_a)