About   Help   FAQ
Disease Ontology Browser
diastrophic dysplasia (DOID:14687)
Alliance: disease page
Alt IDs: OMIM:222600, ICD10CM:Q77.5, MESH:C536170, 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 & Copyright Notice
Send questions and comments to User Support. 		last database update
02/18/2020
MGI 6.14 		The Jackson Laboratory