Preferred Name | Inborn Metabolic Brain Disease | |
Synonyms |
Familial Metabolic Brain Disorder|Familial Metabolic Brain Disease|Inborn Metabolic Central Nervous System Disorder|Inborn Metabolic CNS Disorder|Inborn Metabolic CNS Disease|Inherited Metabolic Brain Disease|Inherited Metabolic Brain Disorder|Inborn Errors of Metabolism, Brain|Inborn Metabolic Central Nervous System Disease|Inborn Metabolic Encephalopathy|Inborn Metabolic Brain Disorder |
|
ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12706 |
|
abbrev | ||
class_or_indiv |
true |
|
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). |
|
external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D020739 |
|
external_ids |
meshUID:D020739 |
|
label |
Inborn Metabolic Brain Disease |
|
mod_date |
2007-10-08 |
|
preferred_label |
Inborn Metabolic Brain Disease |
|
prefixIRI |
birnlex_12706 |
|
prefLabel |
Inborn Metabolic Brain Disease |
|
retired |
false |
|
synonyms |
Familial Metabolic Brain Disorder|Familial Metabolic Brain Disease|Inborn Metabolic Central Nervous System Disorder|Inborn Metabolic CNS Disorder|Inborn Metabolic CNS Disease|Inherited Metabolic Brain Disease|Inherited Metabolic Brain Disorder|Inborn Errors of Metabolism, Brain|Inborn Metabolic Central Nervous System Disease|Inborn Metabolic Encephalopathy|Inborn Metabolic Brain Disorder |
|
subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12705 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://uri.neuinfo.org/nif/nifstd/birnlex_12706 | NIFDYS | LOOM | |
http://uri.neuinfo.org/nif/nifstd/birnlex_12706 | NIFSTD | LOOM | |
http://www.owl-ontologies.com/NPOntology.owl#DOID_889 | NATPRO | LOOM | |
http://purl.obolibrary.org/obo/DOID_889 | CLO | LOOM |