About: Acyl-CoA Dehydrogenase, Long-Chain Deficiency

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Acyl-CoA Dehydrogenase, Long-Chain Deficiency Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Acyl-CoA Dehydrogenase, Long-Chain Deficiency
rdfs:subClassOf	Metabolism, Inborn Errors Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Metabolism, Inborn Errors Enzyme Deficiency
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Acyl-CoA Dehydrogenase, Long-Chain Deficiency
UMLS_CUI	C0220711
Contributing_Source	NICHD
FULL_SYN	Long-Chain Acyl-Coenzyme A Dehydrogenase DeficiencySYNICHD Long-Chain Acyl-CoA Dehydrogenase DeficiencySYNCI Acyl-CoA Dehydrogenase, Long-Chain DeficiencyPTNCI Long Chain Acyl-CoA Dehydrogenase DeficiencyPTNICHD LCADABNCI LCADSYNICHD Long-Chain Acyl-Coenzyme A Dehydrogenase DeficiencySYNCI
DEFINITION	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.NCI
code	C84537

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 89 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software