Id http://purl.bioontology.org/ontology/CSP/1849-7560
http://purl.bioontology.org/ontology/CSP/1849-7560
Preferred Name

protoporphyria

Definitions
autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.
Synonyms
erythropoietic protoporphyria
erythrohepatic protoporphyria
EPP (erythropoietic protoporphyria porphyria)
erythropoietic protoporphyria porphyria
Type http://www.w3.org/2002/07/owl#Class
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