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bn:03307369n
Noun Concept
Categories: Rare diseases, Skin conditions resulting from errors in metabolism, Porphyrias
EN
erythropoietic protoporphyria  EPP  Erythrohepatic Protoporphyria  Erythropoietic-protoporphyria  Ethropoietic portoporphyria
EN
Erythropoietic protoporphyria is a form of porphyria, which varies in severity and can be very painful. Wikipedia
Definitions
Relations
Sources
EN
Erythropoietic protoporphyria is a form of porphyria, which varies in severity and can be very painful. Wikipedia
A genetic disorder Wikipedia Disambiguation
Acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue Wikidata
IS A
rare disease
porphyria
aminolevulinic acid dehydratase deficiency porphyria
erythropoietic porphyria
GENETIC ASSOCIATION
ALAS2
ferrochelatase
HEALTH SPECIALTY
dermatology
endocrinology
MODE OF INHERITANCE
autosomal dominant
Wikipedia
EN
erythropoietic protoporphyria
Wikidata
EN
erythropoietic protoporphyria
Wikipedia Redirections
EN
EPP (erythropoietic protoporphyria), Erythrohepatic protoporphyria, Erythropoietic-protoporphyria, Erythropoietic Protoporphyria, Ethropoietic portoporphyria, Ferrochelatase deficiency, Protoporphyria, erythropoietic, Protoporphyria erythropoeitic
Wikidata Alias
EN
EPP, Erythrohepatic Protoporphyria, Erythropoietic protoporphyria, Ferrochelatase Deficiency, Heme Synthetase Deficiency, Protoporphyria, PROTOPORPHYRIA, ERYTHROPOIETIC, PROTOPORPHYRIA, ERYTHROPOIETIC; EPP

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