About: 2,4 Dienoyl-CoA reductase deficiency

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

medical condition

Attributes	Values
rdf:type	Item
description	medical condition (en) медичний стан (uk)
exact match	wds:Q4596783-6009E3B8-EBB8-4915-931A-C26E3C55FAF8
exact match	http://www.orpha.net/ORDO/Orphanet_431361
Mondo ID	wds:Q4596783-CB153EB1-DF5E-4971-8D76-34551C99B846
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014464
Mondo ID	MONDO_0014464
rdfs:label	2,4 Dienoyl-CoA reductase deficiency (en) 2,4-Dienoil-KoA reduktaza (sh) 2,4-Dienoil-KoA reduktaza (NADPH) (sr) déficit en 2,4-Diénoyl-CoA réductase (fr)
skos:prefLabel	2,4 Dienoyl-CoA reductase deficiency (en) 2,4-Dienoil-KoA reduktaza (sh) 2,4-Dienoil-KoA reduktaza (NADPH) (sr) déficit en 2,4-Diénoyl-CoA réductase (fr)
name	2,4 Dienoyl-CoA reductase deficiency (en) 2,4-Dienoil-KoA reduktaza (sh) 2,4-Dienoil-KoA reduktaza (NADPH) (sr) déficit en 2,4-Diénoyl-CoA réductase (fr)
instance of	wds:Q4596783-53D7EE26-62E0-47EB-9FAA-1E33A64632CA wds:Q4596783-9649AE81-471E-4A64-93C0-AD38812292B0
instance of	class of disease rare disease
subclass of	wds:Q4596783-25F57748-B912-4A1E-8BB3-E7C5441FD9E4 wds:Q4596783-CC7D5E8C-9195-4D9A-8FF8-1D296D5013A4 wds:Q4596783-DB9F4546-5BAD-481F-8D4E-BFF42BB2F03A wds:Q4596783-DBBF7AB5-5464-45BE-A86D-7CE384EAB619 wds:Q4596783-f5bb17c2-49a2-ef98-b36b-bda6d5ed443d
subclass of	rare dyslipidemia Fatty-acid metabolism disorder neurometabolic disease nervous system heredodegenerative disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
KEGG ID	wds:Q4596783-136ABF8B-8E67-4D3C-8C27-5606BC4FF754
KEGG ID	http://www.kegg.jp/entry/H01929
KEGG ID	H01929
UniProt disease ID	wds:Q4596783-bdee684c-41d8-cd64-a048-4f9f135bc2e7
Orphanet ID	wds:Q4596783-C4E8CED4-824A-4AA8-B074-92460E45087A
genetic association	wds:Q4596783-89E4D93A-C948-4D00-9D0B-9360B1FCF3EB
ICD-10-CM	wds:Q4596783-B168596D-C3C9-4E4F-9BAB-9FFEA5441C52
GARD rare disease ID	wds:Q4596783-09855750-A3BA-42AF-B934-325B12322D85
OMIM ID	wds:Q4596783-9E0EA89F-61D2-4F70-A196-474A4355D592 wds:q4596783-ED31A9CB-B894-45A4-AE51-0B3D8FD659A2
UniProt disease ID	DI-04240
Orphanet ID	431361
genetic association	NADK2
ICD-10-CM	G31.8
GARD rare disease ID	10327
OMIM ID	222745 616034
skos:altLabel	DECRD (en) 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (en) 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD (en) 2,4-dienoil-KoA reduktaza (NADPH) (sr) 2,4-dienoyl-CoA reductase (NADPH) (sr) 4-enoil-KoA reduktaza (sr) 4-enoil-KoA reduktaza (NADPH) (sr) DECR deficiency with hyperlysinemia (en) EC 1.3.1.34 (sr) progressive encephalopathy with leukodystrophy due to DECR deficiency (en) Trans-2,3-didehidroacil-KoA:NADP+ 4-oksidoreduktaza (sr) 4-enoil koenzim A (redukovani nikotinamid adenin dinukleotid fosfat) reduktaza (sr)
UMLS CUI	wds:Q4596783-AE1777F8-5E9A-4E7D-BA1A-6FA77DE58411
MeSH descriptor ID	wds:Q4596783-79529E9C-041A-45AE-99F5-4F12F607C0D2
Microsoft Academic ID	wds:Q4596783-C6A98CB4-D6CC-4B2E-9B30-CE33585D33B4
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C565624
Microsoft Academic ID	https://makg.org/entity/2779460218
UMLS CUI	C1857252
MeSH descriptor ID	C565624
Microsoft Academic ID	2779460218
is owl:sameAs of	2,4 Dienoyl-CoA reductase deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q4596783 2,4 Dienoyl-CoA reductase deficiency

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