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Standards Ontologies Notations
erythropoietic protoporphyria

Summary
Synonym
  • EPP
  • Protoporphyria
Definition
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Super Class
acute porphyria
Disease Ontology
DOID:13270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
211 ALAS1 5'-aminolevulinate synthase 1
7390 UROS uroporphyrinogen III synthase
9429 ABCG2 ATP binding cassette subfamily G member 2 (JR blood group)
10845 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X
Displaying 1 entry
Gene ID Gene Symbol Description Source
26357 Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
312382 Abcg2 ATP binding cassette subfamily G member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31271 w white
39836 st scarlet
Displaying 1 entry
Gene ID Gene Symbol Description Source
850369 ADP1 putative ATP-dependent permease ADP1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024