| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (Human Disease Ontology, DOID_0050463) |
| External Link | http://www.omim.org/entry/114290 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| SOX9 | SRY (sex determining region Y)-box 9 |
