| Metadata | |
|---|---|
| ID | DOID:13270 |
| Name | erythropoietic protoporphyria |
| Definition | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria |
| Xrefs |
SNOMEDCT_US_2023_03_01:51022005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
EPP [EXACT] Protoporphyria [EXACT] |
| Parent Relationships |
is_a acute porphyria |