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Ontology Browser

hepatoerythropoietic porphyria (DOID:5230)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
acute porphyria +     
Hepatic Porphyrias +     
acute intermittent porphyria +   
ALAD-Deficiency Porphyria  
erythropoietic protoporphyria +   
hepatoerythropoietic porphyria  
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
hereditary coproporphyria +   
porphyria cutanea tarda +   
variegate porphyria  

Exact Synonyms: Erythrohepatic Porphyria ;   erythrohepatic porphyrias ;   hepatoerythropoietic porphyrias
Primary IDs: MESH:D017121
Xrefs: GARD:6169 ;   NCI:C84754 ;   ORDO:95159
Definition Sources: MESH:D017121

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