(Q102296856)

English

glutathione synthetase deficiency

human disease

Glutathione synthetase deficiency
Pyroglutamicaciduria
Pyroglutamic Aciduria
GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD
GLUTATHIONE SYNTHETASE DEFICIENCY
GSSD
5-Oxoprolinuria

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Statements

0 references

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amino acid metabolic disorder

1 reference

27 November 2020

congenital disorder of amino acid metabolism

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afflicts

glutathione synthetase, subgroup

0 references

3 references

13 August 2019

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000100983/MONDO_0009947

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

270.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

C128193

0 references

exact match

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

1 reference

27 November 2020

http://identifiers.org/doid/DOID:0080699

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://purl.obolibrary.org/obo/HP_0003343

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

HP:0003343

http://www.orpha.net/ORDO/Orphanet_289846

0 references

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

0 references

Identifiers

MeSH descriptor ID

C536835

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

0 references

1 reference

27 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Glutathione_synthetase_deficiency&oldid=948395366

GARD rare disease ID

10047

0 references

Genetics Home Reference Conditions ID

glutathione-synthetase-deficiency

0 references

Human Phenotype Ontology ID

HP:0003343

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009947

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Glutathione_synthetase_deficiency&oldid=948395366

UMLS CUI

C0398746

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

0 references

Glutathione synthetase deficiency

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Glutathione synthetase deficiency

(Q102296856)

glutathione synthetase deficiency

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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Wikiversity(0 entries)

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