Erythropoietic protoporphyria

Erythropoietic protoporphyria (disorder)

active

Code	`51022005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

EPP - erythropoietic protoporphyria
Erythrohepatic protoporphyria
Haem synthase deficiency
Heme synthase deficiency
Magnus syndrome
Protoporphyria

Parents (4)

1899006Autosomal hereditary disorder disorder
190913009Congenital porphyria disorder
276265003Ferrochelatase deficiency disorder
86095007Inborn error of metabolism disorder

Children (4)

860859009Erythropoietic protoporphyria due to ferrochelatase deficiency disorder
1186810009Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 disorder
238053006Homozygous erythropoietic protoporphyria disorder
1197360001X-linked dominant erythropoietic protoporphyria disorder