About: molybdenum cofactor deficiency

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metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage

Attributes	Values
rdf:type	Item
owl:sameAs	molybdenum cofactor deficiency
description	vererbbare Krankheit (de) metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage (en)
exact match	wds:Q1621463-189C33C4-B331-4959-A58D-54C48E46418C wds:Q1621463-2AF4FDED-C005-4EF1-A9F6-3246FC895C19 wds:Q1621463-9B9E2F40-93BD-4F80-879E-88B07BA0CBA9
exact match	http://purl.obolibrary.org/obo/DOID_0111165 http://identifiers.org/doid/DOID:0111165 http://www.orpha.net/ORDO/Orphanet_99732
DiseasesDB	wds:q1621463-1B07F273-E9EF-447D-9EF6-B60753465428
Disease Ontology ID	wds:Q1621463-46CC2BB8-7060-4AA0-9943-87FCF5CADA64
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111165
DiseasesDB	29905
Disease Ontology ID	DOID:0111165
rdfs:label	Molybdän-Cofaktor-Defizienz (de) Niedobór kofaktora molibdenowego (pl) déficit en cofacteur à molybdène (fr) molybdenum cofactor deficiency (en) モリブデン補因子欠損症 (ja)
skos:prefLabel	Molybdän-Cofaktor-Defizienz (de) Niedobór kofaktora molibdenowego (pl) déficit en cofacteur à molybdène (fr) molybdenum cofactor deficiency (en) モリブデン補因子欠損症 (ja)
name	Molybdän-Cofaktor-Defizienz (de) Niedobór kofaktora molibdenowego (pl) déficit en cofacteur à molybdène (fr) molybdenum cofactor deficiency (en) モリブデン補因子欠損症 (ja)
instance of	wds:Q1621463-320F2239-1735-4958-8482-1AE14DB1F81A wds:Q1621463-DA761A99-1F06-459B-8664-FB21C47E1EE0
instance of	class of disease rare disease
subclass of	wds:Q1621463-04252284-5C19-4525-BAF2-DCA0B9541FF7
subclass of	metal metabolism disorder
eMedicine ID	wds:q1621463-080517F6-C836-4CE1-B43E-D75F20E91E33
eMedicine ID	949303
KEGG ID	wds:Q1621463-E1ECAB98-8AD6-4F23-A2C9-F579539950C3
KEGG ID	http://www.kegg.jp/entry/H02311
KEGG ID	H02311
Orphanet ID	wds:Q1621463-8ABFCF4A-B786-4D2D-9405-61F66BD6D8A9
genetic association	wds:Q1621463-86AC3771-A093-451A-94F3-BAD8D0B3DFEE
ICD-10-CM	wds:Q1621463-20BA9A4F-B274-4305-962E-D5EEB3A871F5
GARD rare disease ID	wds:Q1621463-20384999-3712-43D8-AF63-332288AB4AA1
OMIM ID	wds:Q1621463-21EA7BC9-3D46-47FD-97D0-5C4D7A2F181A
Genetics Home Reference Conditions ID	wds:Q1621463-BE3C1D21-C670-4527-B37E-C375ED2C5940
Orphanet ID	99732
genetic association	MOCS1
ICD-10-CM	E72.1
GARD rare disease ID	3705
OMIM ID	252150
Genetics Home Reference Conditions ID	molybdenum-cofactor-deficiency
skos:altLabel	MOCOD (en) combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase (en)
NCI Thesaurus ID	wds:Q1621463-CE83008F-3D74-418A-AB58-6C825D11C349
UMLS CUI	wds:Q1621463-40191BE2-10F2-4F2D-9319-484F115C3506
on focus list of Wikimedia project	wds:Q1621463-2B98D69E-1748-4D3E-A6FF-544A68935007
Microsoft Academic ID	wds:Q1621463-76956E40-0D5E-4538-BBA9-445069ABA88D
Microsoft Academic ID	https://makg.org/entity/2777268173
NCI Thesaurus ID	C129076
UMLS CUI	C0268119
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2777268173
WikiProjectMed ID	wds:Q1621463-841BF4A2-23F8-46C8-857F-FA99BCC55E63
WikiProjectMed ID	Molybdenum cofactor deficiency
is owl:sameAs of	molybdenum cofactor deficiency
is about of	molybdenum cofactor deficiency Molybdenum cofactor deficiency https://pl.wikipedia.org/wiki/Niedob%C3%B3r_kofaktora_molibdenowego https://www.wikidata.org/wiki/Special:EntityData/Q1621463 https://de.wikipedia.org/wiki/Molybd%C3%A4n-Cofaktor-Defizienz https://fr.wikipedia.org/wiki/D%C3%A9ficit_en_cofacteur_%C3%A0_molybd%C3%A8ne
is subclass of of	molybdenum cofactor deficiency type B molybdenum cofactor deficiency type A molybdenum cofactor deficiency type C
is subclass of of	wds:Q50349829-652B1F6A-5842-4771-B7A4-DB6512E0B7EC wds:Q50349834-78EBF9A2-4AF1-4302-B418-B318DF6DA4FA wds:Q50349830-98EF99BF-DD3A-4997-B773-1483CD1088AD
is main subject of	Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency Biochemical investigation of a child with molybdenum cofactor deficiency Genetics of molybdenum cofactor deficiency Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor Deficiency Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans Human molybdenum cofactor deficiency Detection by mass spectrometry of highly increased amount of S-sulfonated transthyretin in serum from a patient with molybdenum cofactor deficiency Insights into molybdenum cofactor deficiency provided by the crystal structure of the molybdenum cofactor biosynthesis protein MoaC Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Molybdenum cofactor deficiency: first prenatal genetic analysis Molybdenum cofactor deficiency: clinical features in a Turkish patient Molybdenum cofactor deficiency associated with Dandy-Walker complex Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

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