"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.
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.
- Porphyria, Erythropoietic
- 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
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]
- Metabolism, Inborn Errors [C16.320.565]
- Porphyrias [C16.320.565.708]
- Porphyria, Erythropoietic [C16.320.565.708.250]
- 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]
- Skin Diseases, Metabolic [C17.800.849]
- Porphyrias [C17.800.849.617]
- Porphyria, Erythropoietic [C17.800.849.617.250]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Porphyrias [C18.452.648.708]
- Porphyria, Erythropoietic [C18.452.648.708.250]
- Porphyrias [C18.452.811]
- Porphyria, Erythropoietic [C18.452.811.250]
- Skin Diseases, Metabolic [C18.452.880]
- Porphyrias [C18.452.880.617]
- Porphyria, Erythropoietic [C18.452.880.617.250]
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Erythropoietic".
This graph shows the total number of publications written about "Porphyria, Erythropoietic" by people in Harvard Catalyst Profiles by year, and whether "Porphyria, Erythropoietic" was a major or minor topic of these publication.
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