OBO ID: DOID:13270
Term Name: erythropoietic protoporphyria Search Ontology:
Synonyms:
  • EPP
  • Protoporphyria
Definition: An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria
References:
Ontology: Human Disease   ( DOID:13270 )
OTHER erythropoietic protoporphyria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALAS2 Protoporphyria, erythropoietic, X-linked 300752
FECH Protoporphyria, erythropoietic, 1 177000
PHENOTYPE No data available

CITATIONS (3)