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.
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) |
C16.320.565.708.250 C16.320.850.738 C17.800.827.738 C17.800.849.617.250 C18.452.648.708.250 C18.452.811.250 C18.452.880.617.250
|
| 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
|
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".
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