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autosomal erythropoietic protoporphyria
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Mondo Description Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Download Data for autosomal erythropoietic protoporphyria
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:79278
MONDO:0019263
High level summary of knowledge for a disease, including descriptions and datasource references.