Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Erythropoietic Protoporphyria 2 (DOID:9009003)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Erythropoietic Protoporphyria 1  
Erythropoietic Protoporphyria 2  
An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)
Erythropoietic Protoporphyria, X-Linked Dominant  

Synonyms
Exact Synonyms: EPP2
Broad Synonyms: AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
Primary IDs: OMIM:618015

paths to the root