About   Help   FAQ
Disease Ontology Browser
spondyloepimetaphyseal dysplasia with joint laxity type 1 (DOID:0112198)
Alliance: disease page
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 B3GALT6 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2022
MGI 6.20
The Jackson Laboratory