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DOID:0112197 - spondyloepimetaphyseal dysplasia with joint laxity
Disease Ontology Definition:A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
Synonyms: SEMDJL,
Xenbase Genes : b3galt6, kif22
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spondyloepimetaphyseal dysplasia (is_a)