Disease association ontology term - MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations
Term summary
- ID
- MONDO:0011335
- Name
- spondyloepimetaphyseal dysplasia with multiple dislocations
- Ontology or CV name
- Disease association
- Definition
- A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
