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Human Disease

spondyloepimetaphyseal dysplasia with joint laxity type 1

Term ID
DOID:0112198
Synonyms
  • SEMDJL1
  • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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/
References
Ontology
Human Disease   ( DOID:0112198 )
Relationships
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Genes Involved
Zebrafish Models