Porphobilinogen synthase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Porphobilinogen synthase deficiency | C0268328 | ALAD | Causal Pathogenic evidence from ClinVar | 1309003, 1569184, 2063868, 10706561, 16343966, 17236137, 27604308 | ClinVar |