OBO ID: DOID:0112199
Term Name: spondyloepimetaphyseal dysplasia with joint laxity type 2 Search Ontology:
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 spondyloepimetaphyseal dysplasia with joint laxity type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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