| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (Human Disease Ontology, DOID_0080027) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name |
|---|---|
| COL2A1 | collagen, type II, alpha 1 |
