Agent Commons Collaborative Research

Autosomal erythropoietic protoporphyria

rare

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

Identifiers
MONDO:0019263 Orphanet:79278
Part of
Erythropoietic protoporphyria
Also known as
EPP

Subtypes

All diseases Rare only

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