Johanson-blizzard syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Johanson-Blizzard syndrome | 2315, C0175692 | UBR1 | Causal Pathogenic evidence from ClinVar | 16311597, 18553553, 21931868, 22072859, 23652379, 24599544, 26149651 | ClinVar |