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

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