Spondyloepiphyseal dysplasia with metatarsal shortening
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondyloepiphyseal dysplasia with metatarsal shortening | 137678 | COL2A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |