Disease Term Disease ID Gene Symbol References
Disorders of Porphyrin Metabolism C0032708 ALAS1 9222176
Porphyria, South African type C2936913 HFE
PPOX
Porphyria, Acute Intermittent, Nonerythroid Variant C1867969 HMBS
Porphyria due to ALA dehydratase deficiency 100924 ALAD