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southeast Asian ovalocytosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
Uniprot Description A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.
Mondo Term and Equivalent IDs
MONDO:0008165:  southeast Asian ovalocytosis
ICD9:282.1: 
Orphanet:98868: 
SCTID:191169008: 
UMLS:C1833690: 
UMLS:C1862323: