autosomal erythropoietic protoporphyria
Go to external page http://purl.obolibrary.org/obo/MONDO_0019263
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. [ Orphanet:79278 ]
Synonyms: EPP
This is just here as a test because I lose it
Term information
database
cross reference
- GARD:4527 (Orphanet:79278)
- Orphanet:79278 (MONDO:equivalentTo)
- MedDRA:10015289 (Orphanet:79278/e)
Subsets
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare