ZFIN Human Disease: glutathione synthetase deficiency of erythrocytes

OBO ID: DOID:0112252

Term Name:	glutathione synthetase deficiency of erythrocytes		Search Ontology:
Synonyms:	glutathione synthetase deficiency without 5-oxoprolinuria
Definition:	A glutathione synthetase deficiency characterized by hemolytic 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. (3)
References:	OMIM:231900 ORDO:289849
Ontology:	Human Disease ( DOID:0112252 )

Relationships

is a type of:	autosomal recessive disease glutathione synthetase deficiency autosomal recessive disease glutathione synthetase deficiency Show first 5 Terms

OTHER glutathione synthetase deficiency of erythrocytes PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GSS	gss	Hemolytic anemia due to glutathione synthetase deficiency	231900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None