OntologyTerm
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

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   December 12th, 2019 at 12:21am

Details

definition 
An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. autosomal recessive disease
preferred_name 
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010262
term_name 
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
term_url 
http://www.ebi.ac.uk/efo/EFO_0010262