| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name |
|---|---|
| SLC26A2 | solute carrier family 26 (anion exchanger), member 2 |
