Spondyloepiphyseal dysplasia with osteoarthritis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | 93279 | COL2A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |