About   Help   FAQ
Disease Ontology Browser
spondyloepiphyseal dysplasia congenita (DOID:14789)
Alliance: disease page
Synonyms: Late Spondyloepiphyseal Dysplasia
Alt IDs: OMIM:183900, DOID:0080025
Definition: A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.

Disease References using Mouse Models (7)

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 6.21
The Jackson Laboratory