| Dataset | CTD Gene-Disease Associations |
| 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) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C536170 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Diastrophic dysplasia from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| SLC26A2 | solute carrier family 26 (anion exchanger), member 2 | 2.88009 |
