About: hemolytic anemia due to glutathione synthetase deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease glutathione synthetase deficiency nodeID://b50946374
label	hemolytic anemia due to glutathione synthetase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112252
database_cross_reference	OMIM:231900 ORDO:289849
has_exact_synonym	glutathione synthetase deficiency without 5-oxoprolinuria
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A glutathione synthetase deficiency characterized by hemolitic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946375

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