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Disease Ontology Browser
spondyloepimetaphyseal dysplasia with joint laxity type 2 (DOID:0112199)
Alliance: disease page
Synonyms: SEMD-MD; SEMDJL2; spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Alt IDs: OMIM:603546, ORDO:93360
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/17/2024
MGI 6.24 		The Jackson Laboratory