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inherited glutathione synthetase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0017909

Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. [ Orphanet:32 ]

Synonyms: inborn error of glutathione synthase activity glutathione synthetase deficiency pyroglutamicaciduria inherited glutathione synthetase deficiency GSSD rare inborn error of glutathione synthase activity inborn glutathione synthase activity disorder pyroglutamic aciduria 5-oxoprolinuria

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C128193 (MONDO:equivalentTo)
  • DOID:0080699 (MONDO:equivalentTo)
  • Orphanet:32 (MONDO:equivalentTo)
  • UMLS:C0398746 (Orphanet:32/e)
  • GARD:10047 (Orphanet:32)
  • MESH:C536835 (Orphanet:32/e)
  • SCTID:234589002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://purl.obolibrary.org/obo/NCIT_C128193

http://www.orpha.net/ORDO/Orphanet_32

http://linkedlifedata.com/resource/umls/id/C0398746

http://purl.obolibrary.org/obo/DOID_0080699

http://identifiers.org/mesh/C536835

http://identifiers.org/snomedct/234589002

has related synonym

oxoprolinase deficiency

id

MONDO:0017909

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0017909