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Summary Literature (0)
MIM:603546 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2

Xenbase Genes: kif22

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations

Disease Ontology (DO):
DOID:0112199 - spondyloepimetaphyseal dysplasia with joint laxity type 2