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Details on Person hereditary spherocytosis

Class:Id	Disease:5656223
_displayName	hereditary spherocytosis
_timestamp	2014-12-11 17:32:52
created	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
definition	A congenital hemolytic anemia characterized_by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
identifier	12971
name	hereditary spherocytosis
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	Minkowski Chauffard syndrome Congenital spherocytic hemolytic anemia spherocytic anemia
(disease)	[Pathway:5619050] Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) [Homo sapiens] [FailedReaction:5656248] Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) [Homo sapiens] [DefinedSet:5657826] SLC4A1 mutants [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5657845] SLC4A1 V488M [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5657855] SLC4A1 E90K [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by hereditary spherocytosis (5656223)