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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
acute intermittent porphyria 
anemia, nonspherocytic hemolytic, due to G6PD deficiency 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
CPOX-related hereditary coproporphyria +  
cryohydrocytosis 
cutaneous porphyria 
Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
elliptocytosis 2 
erythropoietic protoporphyria +  
erythropoietic uroporphyria associated with myeloid malignancy 
familial pseudohyperkalemia 
glycogen storage disease due to aldolase A deficiency 
glycogen storage disease VII 
hemolytic anemia due to adenylate kinase deficiency 
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
hemolytic anemia due to glucophosphate isomerase deficiency 
hemolytic anemia due to glutathione reductase deficiency 
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
non-spherocytic hemolytic anemia due to hexokinase deficiency 
overhydrated hereditary stomatocytosis 
porphyria due to ALA dehydratase deficiency 
primary CD59 deficiency 
pyruvate kinase deficiency of red cells 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
triosephosphate isomerase deficiency 
UROD-related inherited porphyria +  
variegate porphyria +  

Synonyms
Exact Synonyms: Günther disease ;   erythropoietic porphyria
Related Synonyms: Cep ;   Gunther disease ;   Uros deficiency ;   congenital erythropoietic porphyria ;   congenital porphyria ;   uroporphyrinogen 3 synthase deficiency ;   uroporphyrinogen III synthase, deficiency of
Alternate IDs: MONDO:0009902
Xrefs: DOID:13271 ;   GARD:4446 ;   MEDGEN:1861084 ;   MESH:D017092 ;   MIM:263700 ;   NANDO:1200817 ;   NANDO:2201268 ;   NCI:C84697 ;   NORD:1599 ;   ORDO:79277
Definition Sources: Orphanet:79277

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