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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: SEMDJL2, SEMD-MD, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with joint laxity type 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Xenbase Genes
:
kif22
| MIM:603546 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
spondyloepimetaphyseal dysplasia with joint laxity (is_a)