Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. [ https://omim.org/entry/177000 ]
Synonyms: ferrochelatase deficiency protoporphyria, erythropoietic, 1 EPP1 heme synthetase deficiency
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:177000 (MONDO:equivalentTo)
- NCIT:C84698 (MONDO:equivalentTo)
- Orphanet:79278 (OMIM:177000)
Subsets
rare, nord_rare, clingen