Acrodysostosis with or without hormone resistance
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | C3276228 | PDE4D | Causal Pathogenic evidence from ClinVar | 23033274 | ClinVar |
| PRKAR1A | Causal Pathogenic evidence from ClinVar | 21651393, 22464250, 22464252, 22723333, 23043190, 23425300, 26405036, 27825928 | ClinVar | ||
| ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | C3553250 | PDE4D | Causal Pathogenic evidence from ClinVar | 22464250, 22464252, 23033274, 23043190 | ClinVar |
| PRKAR1A | Causal Pathogenic evidence from ClinVar | 27825928 | ClinVar |