About: carnitine-acylcarnitine translocase 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:Q5044061-35B0DDE2-43B6-4184-82F1-C33503AEB021 wds:Q5044061-59F74F09-2F3A-4467-86AE-0DF24D3A997A wds:Q5044061-6DCF173C-0169-4761-9B38-9A260C12FBE3
exact match	http://purl.obolibrary.org/obo/DOID_0111585 http://identifiers.org/doid/DOID:0111585 http://www.orpha.net/ORDO/Orphanet_159
Mondo ID	wds:Q5044061-4A8606FE-A848-407E-98E5-23DDAF4B656A
Disease Ontology ID	wds:Q5044061-C7665499-B11C-47E5-A389-D6EC058E84FD
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008918
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111585
Mondo ID	MONDO_0008918
Disease Ontology ID	DOID:0111585
rdfs:label	Karnitin:acylkarnitintranslokas-brist (sv) Nedostatak karnitin-acilkarnitin translokaze (bs) carnitine-acylcarnitine translocase deficiency (en) déficit en carnitine-acylcarnitine translocase (fr)
skos:prefLabel	Karnitin:acylkarnitintranslokas-brist (sv) Nedostatak karnitin-acilkarnitin translokaze (bs) carnitine-acylcarnitine translocase deficiency (en) déficit en carnitine-acylcarnitine translocase (fr)
name	Karnitin:acylkarnitintranslokas-brist (sv) Nedostatak karnitin-acilkarnitin translokaze (bs) carnitine-acylcarnitine translocase deficiency (en) déficit en carnitine-acylcarnitine translocase (fr)
instance of	wds:Q5044061-5800650D-E053-4691-B980-1C9770D18BE2 wds:Q5044061-EA0CFD03-904E-4C6E-A3BF-40A8E8ECB601
instance of	class of disease rare disease
subclass of	wds:Q5044061-1317FA88-2A77-419C-8283-5050245B9505 wds:Q5044061-3E2F3719-0365-414B-AC9E-131336B6104D wds:Q5044061-9f1565a6-43a4-ec89-48b4-bfddb7391f67 wds:Q5044061-C994ACFA-6E18-4A70-9AF3-3ED8A0258BD6 wds:Q5044061-EDDB2DFE-5B5E-4DEC-8E54-E1961E55C69B
subclass of	congenital disorder of amino acid metabolism lipid metabolism disorder autosomal recessive disease fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy disorder of carnitine cycle and carnitine transport
KEGG ID	wds:Q5044061-6548496C-5629-456F-A96E-2B12DDF2DA4F
KEGG ID	http://www.kegg.jp/entry/H01983
KEGG ID	H01983
UniProt disease ID	wds:Q5044061-a86cf847-4ff6-8883-bd94-86903a0f152a
Orphanet ID	wds:Q5044061-599820aa-4703-19ef-52ea-e8323eb12086
genetic association	wds:Q5044061-A4B8F620-7B25-4912-9949-DB2BDFA865D3
ICD-10-CM	wds:Q5044061-13D1FA97-BEC8-461B-9D9D-3F262B78E8FD
GARD rare disease ID	wds:Q5044061-E0CF3272-456F-4F34-83ED-C692AE8C8ADB
OMIM ID	wds:q5044061-0ADD07E3-15F1-4BA8-8A87-F03A8A1FE2BE
Genetics Home Reference Conditions ID	wds:Q5044061-6B69BEE8-6A40-4732-BE44-89ABFBB2D339
UniProt disease ID	DI-01324
Orphanet ID	159
genetic association	SLC25A20
ICD-10-CM	E71.3
GARD rare disease ID	1123
OMIM ID	212138
Genetics Home Reference Conditions ID	carnitine-acylcarnitine-translocase-deficiency
skos:altLabel	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD (en) CACT deficiency (en) CACTD (en) CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (en)
NCI Thesaurus ID	wds:Q5044061-bc2ee7f8-48f4-8911-17ed-c9e83d860be2
UMLS CUI	wds:Q5044061-59995A4C-69F8-45D1-AD89-75BAA6D72E04
MeSH descriptor ID	wds:Q5044061-A37B3048-D9D7-419C-924F-EF5D3418F79F
Microsoft Academic ID	wds:Q5044061-55CD1AE1-BDC1-4877-A3EF-3EDB8139BE76 wds:Q5044061-FD0B96E1-8C8A-4A05-B21E-8B8FAE7AF285
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562812
Microsoft Academic ID	https://makg.org/entity/2777239629 https://makg.org/entity/2909179278
NCI Thesaurus ID	C133086
UMLS CUI	C0342791
MeSH descriptor ID	C562812
Microsoft Academic ID	2777239629 2909179278
WikiProjectMed ID	wds:Q5044061-B3C27DCE-8F6D-4B87-9839-C78E93BFB084
WikiProjectMed ID	Carnitine-acylcarnitine translocase deficiency
SNOMED CT ID	wds:Q5044061-EB09A100-6D55-427E-B87B-685AA596E65C
SNOMED CT ID	http://snomed.info/id/238003000
SNOMED CT ID	238003000
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q5044061 Carnitine-acylcarnitine translocase deficiency https://sv.wikipedia.org/wiki/Karnitin:acylkarnitintranslokas-brist https://bs.wikipedia.org/wiki/Nedostatak_karnitin-acilkarnitin_translokaze
is main subject of	Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts Carnitine-acylcarnitine translocase deficiency: implications in human pathology Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. Carnitine-acylcarnitine translocase deficiency--a mild phenotype A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis Carnitine-acylcarnitine translocase deficiency: case report and review of the literature Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency

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