spondyloepimetaphyseal dysplasia with joint laxity

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Summary

Literature (0)

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: b3galt6, kif22

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): spondyloepimetaphyseal dysplasia (is_a)