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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)
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Send questions and comments to User Support. 		last database update
01/12/2022
MGI 6.17 		The Jackson Laboratory