| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_14687) |
| External Link | http://www.omim.org/entry/222600 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| SLC26A2 | solute carrier family 26 (anion exchanger), member 2 |
