(Q55783719)

English

congenital brain dysgenesis due to glutamine synthetase deficiency

human disease

Inherited glutamine synthetase deficiency
Glutamine Synthase Deficiency, Congenital Systemic
Inherited GS deficiency
GLUTAMINE DEFICIENCY, CONGENITAL

In more languages

Statements

0 references

class of disease

0 references

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of glutamine metabolism

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Congenital glutamine deficiency with glutamine synthetase mutations

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000135821/MONDO_0012393

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_71278

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Sitelinks

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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