Version: 8.0.0
Date: Tue Jan 28 2025
erythropoietic protoporphyria
DOID:13270
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

erythropoietic protoporphyria

Definition
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Synonyms
  • EPP
  • Protoporphyria
Cross References
Parent Terms
Child Terms
None
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