OBO ID: DOID:0112198 |
Term Name: | spondyloepimetaphyseal dysplasia with joint laxity type 1 | Search Ontology: | |
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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 the B3GALT6 gene on chromosome 1p36.33. https://pubmed.ncbi.nlm.nih.gov/10482874/ | ||
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Ontology: | Human Disease ( DOID:0112198 ) |
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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