Porphyria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY | ALAD | Unknown | ClinGen GenCC Orphanet | ||
| PORPHYRIA, ACUTE HEPATIC | ALAD | Unknown | — | CTD HPO | |
| PORPHYRIA, ACUTE INTERMITTENT | HMBS | Unknown | CTD HPO | ||
| PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT | HMBS | Causal | — | Disgenet | |
| PORPHYRIA, CONGENITAL ERYTHROPOIETIC | UROS | Unknown | — | HPO | |
| PORPHYRIA, ERYTHROPOIETIC | ALAS2 | Unknown | — | Disgenet | |
| FECH | Unknown | — | Disgenet | ||
| UROS | Unknown | — | CTD Disgenet | ||
| PORPHYRIA, ERYTHROPOIETIC, CONGENITAL | GATA1 | Unknown | — | Disgenet | |
| UROS | Unknown | — | Disgenet | ||
| PORPHYRIA, VARIEGATE | PPOX | Unknown | — | CTD | |
| PORPHYRIAS | ALAS1 | Unknown | CTD | ||
| PORPHYRIAS, HEPATIC | ALAD | Unknown | CTD Disgenet | ||
| UROD-RELATED INHERITED PORPHYRIA | UROD | Causal | ClinGen GenCC |