DISEASES

Disease-gene associations mined from literature

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),  disorder of porphyrin and hem metabolism ...