About: 2-methylbutyryl-CoA dehydrogenase deficiency

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About: 2-methylbutyryl-CoA dehydrogenase deficiency Goto Sponge NotDistinct Permalink

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

gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

Attributes	Values
rdf:type	Item
owl:sameAs	2-methylbutyryl-CoA dehydrogenase deficiency
description	gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet. (en)
exact match	wds:Q4596905-FD6561CB-9398-4B25-B574-635B3539D0F4
exact match	http://www.orpha.net/ORDO/Orphanet_79157
Mondo ID	wds:Q4596905-1C29CCB3-0228-4529-A2A0-877242ECF041
DiseasesDB	wds:q4596905-5E3D9138-6732-498F-A3B1-D5B2F24C3ABC
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012392
Mondo ID	MONDO_0012392
DiseasesDB	34413
rdfs:label	2-methylbutyryl-CoA dehydrogenase deficiency (en) déficit en 2-méthylbutyryl-CoA déshydrogénase (fr) 2-メチルブチリルCoAデヒドロゲナーゼ欠損症 (ja)
skos:prefLabel	2-methylbutyryl-CoA dehydrogenase deficiency (en) déficit en 2-méthylbutyryl-CoA déshydrogénase (fr) 2-メチルブチリルCoAデヒドロゲナーゼ欠損症 (ja)
name	2-methylbutyryl-CoA dehydrogenase deficiency (en) déficit en 2-méthylbutyryl-CoA déshydrogénase (fr) 2-メチルブチリルCoAデヒドロゲナーゼ欠損症 (ja)
instance of	wds:Q4596905-436FF598-AD32-45CA-A687-DD12A4569AAC wds:Q4596905-EBCA9017-87F3-4A66-BBEE-A76F7A2185B5
instance of	class of disease rare disease
subclass of	wds:Q4596905-31503475-D6DC-46DF-84BF-D9933F598987 wds:Q4596905-3643c527-46ec-8215-4b09-0f7cc7306da1 wds:Q4596905-529CB252-9365-4DCD-A302-659C1D84DB19 wds:Q4596905-A23864B4-66CD-41E9-8EF0-B745601BAA0C wds:Q4596905-DCE3B230-4B4B-4EEF-8E53-134C7AC6B844
subclass of	congenital disorder of amino acid metabolism rare genetic epilepsy neurometabolic disease classic organic aciduria amino acid or protein metabolism disease with epilepsy
KEGG ID	wds:Q4596905-A62CB383-9905-4708-A148-73743AEB4D76
KEGG ID	http://www.kegg.jp/entry/H00375
KEGG ID	H00375
UniProt disease ID	wds:Q4596905-27583650-450e-1315-ac46-ee317f132f01
Orphanet ID	wds:Q4596905-bc05eec9-47a9-b78d-27fa-76c36ffa4998
genetic association	wds:Q4596905-C6958661-84D7-4281-B28C-67A42181B1F7
ICD-10-CM	wds:Q4596905-14785B7C-A4FA-4B6C-A0F6-9653952F65FD
GARD rare disease ID	wds:Q4596905-E81285B5-B0ED-4F6E-8A4A-DE4C007E6553
OMIM ID	wds:q4596905-90C169C1-472B-4474-80F4-8E47D2E2F62F
Genetics Home Reference Conditions ID	wds:Q4596905-336D3714-11E2-4E4A-BEF0-8514AB25B8EF
UniProt disease ID	DI-02302
Orphanet ID	79157
genetic association	ACADSB
ICD-10-CM	E71.1
GARD rare disease ID	10322
OMIM ID	610006
Genetics Home Reference Conditions ID	short-branched-chain-acyl-coa-dehydrogenase-deficiency
skos:altLabel	2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (en) 2-Methylbutyryl Glycinuria (en) 2-methylbutyric aciduria (en) SBCAD deficiency (en) SBCADD (en) butyryl-CoA dehydrogenase deficiency (en) Short branched-chain acyl-CoA dehydrogenase deficiency (en) Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency (en) short/branched-chain acyl-CoA dehydrogenase deficiency (en)
NCI Thesaurus ID	wds:Q4596905-ddaec637-4a75-c798-db18-c572c1ad0626
UMLS CUI	wds:Q4596905-CF440D64-D4B0-401B-85CB-76A765BA643D
MeSH descriptor ID	wds:Q4596905-32478884-AEF7-402D-B646-D83B210FD493
Microsoft Academic ID	wds:Q4596905-9E85C677-0D25-45E5-A6E1-E1F55879044A
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C566487
Microsoft Academic ID	https://makg.org/entity/2777253958
NCI Thesaurus ID	C98863
UMLS CUI	C1864912
MeSH descriptor ID	C566487
Microsoft Academic ID	2777253958
is about of	2-methylbutyryl-CoA dehydrogenase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q4596905 2-Methylbutyryl-CoA dehydrogenase deficiency
is main subject of	Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...] 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. 2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
is main subject of	wds:Q28284385-2A5A1C8B-71EE-4C62-B413-5B77560C084D wds:Q44519990-0401287D-7161-498A-8B76-078C9EDF3D54 wds:Q44060115-9F953F63-F9D5-476E-9FF8-A89D497A1055 wds:Q24534466-90778A83-D4D0-4A9D-90B9-3E16D826DFB4 wds:Q21202131-8787FE1C-F201-4046-8004-9172FC91395C wds:Q37220977-E209EDE3-9F5D-456C-AF73-2A26A2219CB4 wds:Q35167630-1C852402-BA44-47A7-B952-745DA4F622DC wds:Q80060907-C93DB9BF-14F1-455B-BB2B-7F43128CB05B wds:Q91398148-1E043739-8BB2-4ABA-BB09-99958BD32A4D wds:Q45198977-63976F76-7C3C-45D1-A681-57AE6A00874C
is genetic association of	ACADSB
is genetic association of	wds:Q4650492-49EF3193-FAB9-46A8-A27D-FCA13EFABF56
is established from medical condition of	GM17477
is established from medical condition of	wds:Q54848913-0C6438B3-2A75-4B8E-9852-1E75BDB3BF3B

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