Search Ontology:
Human Disease
erythropoietic protoporphyria
- Term ID
- DOID:13270
- Synonyms
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- EPP
- 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
- References
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- GARD:4527
- ICD10CM:E80.0
- MESH:D046351
- MIM:177000
- MIM:300752
- NCI:C84698
- ORDO:79278
- SNOMEDCT_US_2023_03_01:51022005
- UMLS_CUI:C0162568
- Ontology
- Human Disease ( DOID:13270 )
- is a type of
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Genes Involved
Zebrafish Models