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Summary Literature (0)
DOID:0112199 - spondyloepimetaphyseal dysplasia with joint laxity type 2

Disease Ontology Definition:A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.

Synonyms: SEMD-MD, SEMDJL2, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity type 2, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type

In OMIM:
OMIM:603546 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : kif22

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), spondyloepimetaphyseal dysplasia with joint laxity (is_a)