OntologyTerm
autosomal erythropoietic protoporphyria

released
View JSON
   October 15th, 2020 at 9:00pm

Details

definition 
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. (EFO)
namespace 
http://purl.obolibrary.org/obo
parents 
  1. no view permissions
preferred_name 
autosomal erythropoietic protoporphyria
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. EPP
term_id 
MONDO:0019263
term_name 
autosomal erythropoietic protoporphyria
term_url 
http://purl.obolibrary.org/obo/MONDO_0019263