| Term Name: | diastrophic dysplasia |
|---|---|
| Synonyms: | |
| Definition: | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| Ontology: | Human Disease [DOID:14687] ( DOID:14687 ) |