| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. (Human Disease Ontology, DOID_4480) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease Achondroplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | 5.0 |
