About: glutathione synthetase deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
owl:sameAs	glutathione synthetase deficiency
description	human disease (en) malattia umana (it) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q102296856-18D0B741-3292-4AD6-9978-76665C00ACCC wds:Q102296856-2199A8A8-9603-43CD-9800-2B38C4D6A22D wds:Q102296856-7E24823B-8B7A-41AB-8DFD-EC71EDDE48F8 wds:Q102296856-C9004FC1-F12A-41DE-9D8F-A361CF46AF2C wds:Q102296856-DEB574CB-D248-4BAE-885A-35CFE28817B6
exact match	http://www.orpha.net/ORDO/Orphanet_32 http://purl.obolibrary.org/obo/DOID_0080699 http://purl.obolibrary.org/obo/HP_0003343 http://www.orpha.net/ORDO/Orphanet_289846 http://identifiers.org/doid/DOID:0080699
Mondo ID	wds:Q102296856-32D9B589-62AD-4C90-9CD5-22D9DEBDBEC5
DiseasesDB	wds:Q102296856-DB6AA8D6-9242-4447-A4EE-A0B0E2B7F03F
Disease Ontology ID	wds:Q102296856-6153C246-B1E4-4AA0-847C-0F2102910A1E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009947
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080699
Mondo ID	MONDO_0009947
DiseasesDB	29839
Disease Ontology ID	DOID:0080699
rdfs:label	deficit di glutatione sintetasi (it) déficit en glutathion synthétase (fr) glutathione synthetase deficiency (en) グルタチオン合成酵素欠損症 (ja)
skos:prefLabel	deficit di glutatione sintetasi (it) déficit en glutathion synthétase (fr) glutathione synthetase deficiency (en) グルタチオン合成酵素欠損症 (ja)
name	deficit di glutatione sintetasi (it) déficit en glutathion synthétase (fr) glutathione synthetase deficiency (en) グルタチオン合成酵素欠損症 (ja)
instance of	wds:Q102296856-6ADADB04-EF41-4908-9AE9-481DB3FA7774 wds:Q102296856-9114842D-786D-4862-9B20-2F5373D3A5E8
instance of	class of disease rare disease
subclass of	wds:Q102296856-137AD844-6DF8-42CD-9B1F-06FB35353AC4 wds:Q102296856-90B66B3A-2D12-485D-959D-5A50C680A28F
subclass of	congenital disorder of amino acid metabolism amino acid metabolic disorder
KEGG ID	wds:Q102296856-5574B3D8-1267-4236-A8A8-868165FFEF65
KEGG ID	http://www.kegg.jp/entry/H02312
KEGG ID	H02312
UniProt disease ID	wds:Q102296856-54ee6176-42e1-222c-1588-a8c7ad51626e
Orphanet ID	wds:Q102296856-5A70F1E1-FB52-488E-98CB-E6D2BEC67DFF
ICD-9-CM	wds:Q102296856-6475294D-C016-4293-A6F0-7D9719D56547
genetic association	wds:Q102296856-1B3CA0A2-269F-417E-ABFA-1C764D1215F5
ICD-10-CM	wds:Q102296856-91B55FCC-768B-414A-83AE-28343D390BA9
GARD rare disease ID	wds:Q102296856-F0B2E0D8-36A7-4CE0-BBC4-38720BDDE55D
OMIM ID	wds:Q102296856-BC7A9CAC-1B8C-4E1E-B230-2F3641148C2F
Genetics Home Reference Conditions ID	wds:Q102296856-057EFDB6-3CD2-4B4D-83D6-FA90971C5387
UniProt disease ID	DI-01673
Orphanet ID	289846
ICD-9-CM	270.8
genetic association	glutathione synthase
ICD-10-CM	D55.1
GARD rare disease ID	10047
OMIM ID	266130
Genetics Home Reference Conditions ID	glutathione-synthetase-deficiency
afflicts	wds:Q102296856-86E410C9-F31B-48DB-9EBC-E9AE5586913E
afflicts	glutathione synthetase, subgroup
Human Phenotype Ontology ID	wds:Q102296856-AE28DB64-470D-421B-AF53-BE461D20A63B
Human Phenotype Ontology ID	HP:0003343
skos:altLabel	5-Oxoprolinuria (en) GLUTATHIONE SYNTHETASE DEFICIENCY (en) GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD (en) GSSD (en) Glutathione synthetase deficiency (en) Pyroglutamic Aciduria (en) Pyroglutamicaciduria (en) acidurie pyroglutamique (fr) déficit en glutathion synthase (fr)
NCI Thesaurus ID	wds:Q102296856-0DB1DBBB-078B-45BC-B3AA-417A2C305836
UMLS CUI	wds:Q102296856-63377794-176C-438E-9443-88E546DEFC27 wds:Q102296856-63A2330C-28C2-40E4-975A-36899118B0C4
MeSH descriptor ID	wds:Q102296856-2FA65670-DACB-4AAE-98A8-11615E55E508
Microsoft Academic ID	wds:Q102296856-34A39A93-6452-4267-B4D2-20B6936913D6
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536835
Microsoft Academic ID	https://makg.org/entity/2780497470
NCI Thesaurus ID	C128193
UMLS CUI	C0398746
MeSH descriptor ID	C536835
Microsoft Academic ID	2780497470
WikiProjectMed ID	wds:Q102296856-98F9582E-D8C2-44A7-A3C4-5AF371F8926E
WikiProjectMed ID	Glutathione synthetase deficiency
SNOMED CT ID	wds:Q102296856-6EFC6067-E624-4AA6-8746-D7E9CD6AB389
SNOMED CT ID	http://snomed.info/id/234589002
SNOMED CT ID	234589002
is owl:sameAs of	glutathione synthetase deficiency
is about of	glutathione synthetase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q102296856 Glutathione synthetase deficiency
is cites work of	Function of Glutathione in Kidney Via The γ-Glutamyl Cycle
is cites work of	wds:Q38103845-A1A1DAE7-28BF-4779-98B5-BD5D1646F1D6
is main subject of	Mutations in the glutathione synthetase gene cause 5-oxoprolinuria Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency

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