| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/100800 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Achondroplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| FGFR3 | fibroblast growth factor receptor 3 |
