About   Help   FAQ
Disease Ontology Browser
erythropoietic protoporphyria (DOID:13270)
Alliance: disease page
Synonyms: EPP; 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 (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory