loading...| Preferred Name | Inborn Metabolic Brain Disease | |
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| 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). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12706 |
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| createdDate |
2007-10-08 |
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| 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). |
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| label |
Inborn Metabolic Brain Disease |
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| MeshUid |
D020739 |
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| modifiedDate |
2007-10-08 |
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| 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). |
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| preferred label |
Inborn Metabolic Brain Disease |
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| 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 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://uri.neuinfo.org/nif/nifstd/birnlex_12706 | NIFSTD | SAME_URI | |
| http://uri.neuinfo.org/nif/nifstd/birnlex_12706 | NIFSTD | 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 |