OBO ID: DOID:0112199 |
Term Name: | spondyloepimetaphyseal dysplasia with joint laxity type 2 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0112199 ) |
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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