Search Ontology:
Human Disease

spondyloepimetaphyseal dysplasia with joint laxity type 2

Term ID
DOID:0112199
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
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. (2)
References
Ontology
Human Disease   ( DOID:0112199 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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