FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepimetaphyseal dysplasia with joint laxity type 2 ID (Ontology) DOID:0112199 (Human Disease)
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.
Also Known As "SEMD-MD" ; "SEMDJL2" ; "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" (for all, see Synonyms field below)
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 Genes
 spondyloepimetaphyseal dysplasia with joint laxity type 2       2
 for disease ribbon | spondyloepimetaphyseal dysplasia with joint laxity type 2       2
 model of | spondyloepimetaphyseal dysplasia with joint laxity type 2       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__________________________
spondyloepimetaphyseal dysplasia                        |
 |__spondyloepimetaphyseal dysplasia with joint laxity__|
                                                        spondyloepimetaphyseal dysplasia with joint laxity type 2  2 rec.
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Is a autosomal dominant disease
spondyloepimetaphyseal dysplasia with joint laxity
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Synonyms
  • "SEMD-MD" EXACT OMO:0003012
    "SEMDJL2" EXACT OMO:0003012
    "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT
    "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT
    "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT
Secondary IDs
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MIM:603546
ORDO:93360