Term Name: | porphyria |
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Synonyms: | disorder of porphyrin and hem metabolism, disorder of porphyrin metabolism, Hematoporphyria, Porphyrinopathy |
Definition: | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
Ontology: | Human Disease [DOID:13268] ( DOID:13268 ) |