Human genes for porphyria
Porphyria [DOID:13268]
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Synonyms: porphyria, DOID:13268, Hematoporphyria, Porphyrinopathy, disorder of porphyrin and hem metabolism ...