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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Porphyria, Erythropoietic | Legal notice |
Other terms
Erythropoietic Porphyrias,Porphyrias, Erythropoietic,Porphyria, Erythropoietic, Congenital,Gunther Disease,Gunther's Disease,Gunthers Disease,Congenital Erythropoietic Porphyria,Congenital Erythropoietic Porphyrias,Erythropoietic Porphyria, Congenital,Erythropoietic Porphyrias, Congenital,Porphyria, Congenital Erythropoietic,Porphyrias, Congenital Erythropoietic,Erythropoietic Porphyria,Deficiency of Uroporphyrinogen III Synthase,Uros Deficiency,Uroporphyrinogen III Synthase, Deficiency of
Description
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.
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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