porphyria (Q271759)

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An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of porphyrins.
  • porphyrias
  • Hematoporphyria
  • Porphyrinopathy (disorder)
  • disorder of porphyrin and hem metabolism
  • disorder of porphyrin metabolism
  • Porphyrinopathy
  • disorder of porphyrin and heme metabolism
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Language Label Description Also known as
English
porphyria
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of porphyrins.
  • porphyrias
  • Hematoporphyria
  • Porphyrinopathy (disorder)
  • disorder of porphyrin and hem metabolism
  • disorder of porphyrin metabolism
  • Porphyrinopathy
  • disorder of porphyrin and heme metabolism

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MONDO:0019142
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