Achondroplasia with developmental delay and acanthosis nigricans
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 85165 | FGFR3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |