About: short-chain acyl-coenzyme A dehydrogenase deficiency

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About: short-chain acyl-coenzyme A dehydrogenase deficiency Goto Sponge NotDistinct Permalink

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lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids (en)
exact match	wds:Q7501551-14B3E11B-E349-4D4E-B142-473C64B1BFF9 wds:Q7501551-2214906F-B8C2-440B-A099-2F10E872F447 wds:Q7501551-C8589FB7-A946-42D4-8F96-5D770741C8EF
exact match	http://purl.obolibrary.org/obo/DOID_0080154 http://identifiers.org/doid/DOID:0080154 http://www.orpha.net/ORDO/Orphanet_26792
Mondo ID	wds:Q7501551-06ED5BE0-8F78-4F75-A409-BD84B5414E2E
DiseasesDB	wds:q7501551-E082D58D-F6D9-4CA8-AA14-E33ACAD32346
Disease Ontology ID	wds:Q7501551-5E4DA1F7-7150-4985-8183-4BF04DEC2845
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008722
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080154
Mondo ID	MONDO_0008722
DiseasesDB	31599
Disease Ontology ID	DOID:0080154
rdfs:label	déficit en acyl-CoA déshydrogénase à chaînes courtes (fr) short-chain acyl-coenzyme A dehydrogenase deficiency (en) 短鏈醯基輔酶A去氫酶缺乏症 (zh)
skos:prefLabel	déficit en acyl-CoA déshydrogénase à chaînes courtes (fr) short-chain acyl-coenzyme A dehydrogenase deficiency (en) 短鏈醯基輔酶A去氫酶缺乏症 (zh)
name	déficit en acyl-CoA déshydrogénase à chaînes courtes (fr) short-chain acyl-coenzyme A dehydrogenase deficiency (en) 短鏈醯基輔酶A去氫酶缺乏症 (zh)
instance of	wds:Q7501551-A825DF8B-C16F-41CE-BD35-46E70679AD1E wds:Q7501551-F2352511-B1F7-44DB-8074-00BB1944718F
instance of	class of disease rare disease
subclass of	wds:Q7501551-3479E509-F35E-41D0-A48C-4AB9A03D5101 wds:Q7501551-4B447CFD-74E9-4B10-904D-F445377A6DE4 wds:Q7501551-571da0e3-4e8b-cf1f-598f-2e025700007e wds:Q7501551-97242CBF-B067-44A9-8117-00E2AAB8BBD3
subclass of	rare dyslipidemia lipid metabolism disorder Fatty-acid metabolism disorder acyl-CoA dehydrogenase deficiency
KEGG ID	wds:Q7501551-2BCA6266-8863-4356-8F43-5F2839FF2766
KEGG ID	http://www.kegg.jp/entry/H01980
KEGG ID	H01980
UniProt disease ID	wds:Q7501551-c5ea4f07-4832-815f-8f7a-a1bc87e66b91
Orphanet ID	wds:Q7501551-ca2ecbb3-4425-58ba-5664-b2518acbd4f7
genetic association	wds:Q7501551-A66B72C8-B81B-47A9-AB79-D347EC2287A7
ICD-10-CM	wds:Q7501551-4EC2EF08-A028-4604-94E7-7D918679839F wds:Q7501551-82693CA5-1977-4471-B14B-9A72B51EB47C
GARD rare disease ID	wds:Q7501551-BC41EB31-DEB9-4DE8-8188-0210EF740CCB
OMIM ID	wds:Q7501551-B19881E0-0539-4980-B637-D7B60D7AECD6
UniProt disease ID	DI-02301
Orphanet ID	26792
genetic association	ACADS
ICD-10-CM	E71.3 E71.312
GARD rare disease ID	4822
OMIM ID	201470
ICD-9 ID	wds:q7501551-51DE06BD-FF11-4257-AA9A-D69C90E32741
ICD-9 ID	277.85
skos:altLabel	SCAD (en) Short-chain acyl-CoA dehydrogenase deficiency (en) Short-chain acyl-coenzyme A dehydrogenase deficiency (en) Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) (en) ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD (en) Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD) (en) ACADSD (en) ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (en) Acads Deficiency (en) SCAD deficiency (en) SCADD (en) Scadh Deficiency (en) acyl-CoA dehydrogenase, short-chain deficiency (en) short chain acyl-CoA dehydrogenase deficiency (en) Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency (en)
NCI Thesaurus ID	wds:Q7501551-40a25b13-42b5-c6cf-2f8e-020f19bf8d0d
UMLS CUI	wds:Q7501551-f7f3fe60-491b-9e7c-611e-3b6dfad7ec69
MeSH descriptor ID	wds:Q7501551-2adf0b1c-46b8-7665-13d2-2db512ad180e
on focus list of Wikimedia project	wds:Q7501551-3228E052-F59E-47D8-952D-594B5D0AFF2A
Microsoft Academic ID	wds:Q7501551-951D7CCF-8CC3-47AB-8A6F-885DBCDDA764
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537596
Microsoft Academic ID	https://makg.org/entity/2778424152
NCI Thesaurus ID	C84539
UMLS CUI	C0342783
MeSH descriptor ID	C537596
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2778424152
is owl:sameAs of	short-chain acyl-coenzyme A dehydrogenase deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7501551 Short-chain acyl-coenzyme A dehydrogenase deficiency https://fr.wikipedia.org/wiki/D%C3%A9ficit_en_acyl-coenzyme_A_d%C3%A9shydrog%C3%A9nase_des_acides_gras_%C3%A0_cha%C3%AEne_courte
is main subject of	Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. Short-chain acyl-coenzyme A dehydrogenase deficiency

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