Porphyria, Erythropoietic

"Porphyria, Erythropoietic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

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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.

Descriptor ID	D017092
MeSH Number(s)	C16.320.850.738 C17.800.827.738 C18.452.811.250
Concept/Terms	Porphyria, Erythropoietic Porphyria, Erythropoietic Erythropoietic Porphyrias Porphyrias, Erythropoietic Erythropoietic Porphyria Porphyria, Erythropoietic, Congenital Gunther's Disease Gunthers Disease Porphyria, Congenital Erythropoietic Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyrias Erythropoietic Porphyria, Congenital Erythropoietic Porphyrias, Congenital Porphyrias, Congenital Erythropoietic Gunther Disease Deficiency of Uroporphyrinogen III Synthase Deficiency of Uroporphyrinogen III Synthase UROS Deficiency Uroporphyrinogen III Synthase, Deficiency of

Below are MeSH descriptors whose meaning is more general than "Porphyria, Erythropoietic".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Porphyria, Erythropoietic [C16.320.850.738]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Skin Diseases, Genetic [C17.800.827]
Porphyria, Erythropoietic [C17.800.827.738]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Porphyrias [C18.452.811]
Porphyria, Erythropoietic [C18.452.811.250]

Below are MeSH descriptors whose meaning is related to "Porphyria, Erythropoietic".

Below are MeSH descriptors whose meaning is more specific than "Porphyria, Erythropoietic".

publications

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