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Disease Ontology Browser
erythropoietic protoporphyria (DOID:13270)
Alliance: disease page
Synonyms: EPP (erythropoietic protoporphyria porphyria); Erythropoietic protoporphyria (disorder); Protoporphyria
Alt IDs: OMIM:177000, OMIM:300752, ICD10CM:E80.0, MESH:D046351, NCI:C84698, ORDO:79278, UMLS_CUI:C0162568
Definition: An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory