Search Ontology:
Human Disease
spondyloepimetaphyseal dysplasia with joint laxity type 2
- Term ID
- DOID:0112199
- Synonyms
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- 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
-
- OMIM:603546
- ORDO:93360
- Ontology
- Human Disease ( DOID:0112199 )
- is a type of
-
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