Brachydactyly with joint dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | C1861313 | MACROH2A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 30711920 | - |
| PITX1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23022097, 23587911 | - |