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hereditary elliptocytosis

Disease Summary
Associated Targets (9)
Tbio

9


GARD Rare
Mondo Description Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Disease Ontology Description A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
Mondo Term and Equivalent IDs
MONDO:0017319:  hereditary elliptocytosis
COHD:22288: 
DC:0000130: 
GARD:0006621: 
ICD10:D58.1: 
MESH:D004612: 
NCIT:C35882: 
Orphanet:288: 
SCTID:178935009: 
UMLS:C0013902: