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Ontology Browser

Term:
erythropoietic protoporphyria (DOID:13270)
Annotations: Rat: (8) Mouse: (8) Human: (8) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (7)
Parent Terms Term With Siblings Child Terms
acute porphyria +     
Hepatic Porphyrias +     
acute intermittent porphyria +   
ALAD-Deficiency Porphyria  
erythropoietic protoporphyria +   
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)
hepatoerythropoietic porphyria  
hereditary coproporphyria +   
porphyria cutanea tarda +   
variegate porphyria  

Synonyms
Exact Synonyms: EPP ;   Erythropoietic Protoporphyrias ;   Ferrochelatase Deficiencies ;   Ferrochelatase Deficiency ;   Heme Synthetase Deficiencies ;   Heme Synthetase Deficiency ;   erythrohepatic protoporphyria ;   protoporphyria
Primary IDs: MESH:D046351
Xrefs: GARD:4527 ;   NCI:C84698 ;   OMIM:PS177000 ;   ORDO:79278
Definition Sources: http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria "DO" "DO"

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