erythropoietic protoporphyria (Q1759600)

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acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue
  • Erythropoietic protoporphyria (disorder)
  • Protoporphyria
  • EPP
  • EPP (erythropoietic protoporphyria porphyria)
  • Erythropoietic protoporphyria
  • PROTOPORPHYRIA, ERYTHROPOIETIC; EPP
  • Heme Synthetase Deficiency
  • PROTOPORPHYRIA, ERYTHROPOIETIC
  • Ferrochelatase Deficiency
  • Erythrohepatic Protoporphyria
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Language Label Description Also known as
English
erythropoietic protoporphyria
acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue
  • Erythropoietic protoporphyria (disorder)
  • Protoporphyria
  • EPP
  • EPP (erythropoietic protoporphyria porphyria)
  • Erythropoietic protoporphyria
  • PROTOPORPHYRIA, ERYTHROPOIETIC; EPP
  • Heme Synthetase Deficiency
  • PROTOPORPHYRIA, ERYTHROPOIETIC
  • Ferrochelatase Deficiency
  • Erythrohepatic Protoporphyria

Statements

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Erythropoietic protoporphyria
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Identifiers

MONDO:0001676
MONDO:0008319
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