| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (Human Disease Ontology, DOID_0080041) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease Hypochondroplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | 5.0 |
