About   Help   FAQ
Disease Ontology Browser
diastrophic dysplasia (DOID:14687)
Alliance: disease page
Alt IDs: OMIM:222600, ICD10CM:Q77.5, MESH:C536170, NCI:C156311, UMLS_CUI:C0220726
Definition: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

Disease References using Mouse Models (2)
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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory