|OBO ID: DOID:0112198|
|Term Name:||spondyloepimetaphyseal dysplasia with joint laxity type 1||Search Ontology:|
|Definition:||A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33. https://pubmed.ncbi.nlm.nih.gov/10482874/|
|Ontology:||Human Disease (DOID:0112198)|
|is a type of:||
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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