About   Help   FAQ
Disease Ontology Browser
spondyloepiphyseal dysplasia with congenital joint dislocations (DOID:0050813)
Alliance: disease page
Synonyms: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal dysostosis; Humerospinal Dysostosis; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia
Alt IDs: OMIM:143095
Definition: A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

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
MGI 6.19
The Jackson Laboratory