Neuroscience Information Framework (NIF) Standard Ontology

Last uploaded: February 10, 2018

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Preferred Name	Inborn Metabolic Brain Disease
Synonyms	Inborn Metabolic Central Nervous System Disorder Familial Metabolic Brain Disorder Inborn Metabolic CNS Disease Inborn Metabolic Central Nervous System Disease Familial Metabolic Brain Disease Inherited Metabolic Brain Disorder Inborn Metabolic Encephalopathy Inborn Errors of Metabolism, Brain Inborn Metabolic CNS Disorder Inherited Metabolic Brain Disease Inborn Metabolic Brain Disorder
Definitions	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero (MeSH).
ID	http://uri.neuinfo.org/nif/nifstd/birnlex_12706
Obsolete	true
alternative label	Inborn Metabolic Central Nervous System Disorder Familial Metabolic Brain Disorder Inborn Metabolic CNS Disease Inborn Metabolic Central Nervous System Disease Familial Metabolic Brain Disease Inherited Metabolic Brain Disorder Inborn Metabolic Encephalopathy Inborn Errors of Metabolism, Brain Inborn Metabolic CNS Disorder Inherited Metabolic Brain Disease Inborn Metabolic Brain Disorder
createdDate	2007-10-08
definition	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero (MeSH).
editorial note	http://uri.neuinfo.org/nif/nifstd/readable/uncurated
externalSourceId	D020739
hasBirnlexCurator	http://uri.neuinfo.org/nif/nifstd/readable/Bill_Bug
hasCurationStatus	http://uri.neuinfo.org/nif/nifstd/readable/uncurated
hasDefinitionSource	http://uri.neuinfo.org/nif/nifstd/readable/MeSH_defSource
hasExternalSource	http://uri.neuinfo.org/nif/nifstd/readable/MeSH
label	Inborn Metabolic Brain Disease
MeshUid	D020739
modifiedDate	2007-10-08
note	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero (MeSH). http://uri.neuinfo.org/nif/nifstd/readable/uncurated
owl:deprecated	true
preferred label	Inborn Metabolic Brain Disease
Resource Identifier	D020739
synonym	Inborn Metabolic Central Nervous System Disorder Familial Metabolic Brain Disorder Inborn Metabolic CNS Disease Inborn Metabolic Central Nervous System Disease Familial Metabolic Brain Disease Inherited Metabolic Brain Disorder Inborn Metabolic Encephalopathy Inborn Errors of Metabolism, Brain Inborn Metabolic CNS Disorder Inherited Metabolic Brain Disease Inborn Metabolic Brain Disorder
subClassOf	http://www.w3.org/2002/07/owl#DeprecatedClass http://uri.neuinfo.org/nif/nifstd/birnlex_12705 http://purl.obolibrary.org/obo/DOID_637

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Mapping To	Ontology	Source
http://uri.neuinfo.org/nif/nifstd/birnlex_12706	NIFDYS	SAME_URI
http://uri.neuinfo.org/nif/nifstd/birnlex_12706	NIFDYS	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_889	NATPRO	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12706	BIRNLEX	LOOM
http://purl.obolibrary.org/obo/DOID_889	CLO	LOOM