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Disease Ontology Browser
spondyloepimetaphyseal dysplasia with joint laxity type 1 (DOID:0112198)
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Synonyms: SEMDJL1; spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Alt IDs: OMIM:271640
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory