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Erythropoietic protoporphyria. 2003

M Lecha
Department of Dermatology. Hospital Clínic, University of Barcelona, Spain. 4908mlc@comb.es

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017092 Porphyria, Erythropoietic An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. Deficiency of Uroporphyrinogen III Synthase,Erythropoietic Porphyria,Gunther's Disease,Porphyria, Erythropoietic, Congenital,Uroporphyrinogen III Synthase, Deficiency of,Congenital Erythropoietic Porphyria,Gunther Disease,Porphyria, Congenital Erythropoietic,UROS Deficiency,Congenital Erythropoietic Porphyrias,Erythropoietic Porphyria, Congenital,Erythropoietic Porphyrias,Erythropoietic Porphyrias, Congenital,Gunthers Disease,Porphyrias, Congenital Erythropoietic,Porphyrias, Erythropoietic

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