| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| Similar Terms | |
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1 genes involed in the disease campomelic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name |
|---|---|
| SOX9 | SRY (sex determining region Y)-box 9 |