| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/146000 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Hypochondroplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| FGFR3 | fibroblast growth factor receptor 3 |
