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heme oxygenase 1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly.
Mondo Term and Equivalent IDs
MONDO:0013536:  heme oxygenase 1 deficiency
MESH:C564200: 
Orphanet:562509: 
UMLS:C1841651: