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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
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Accession:DOID:9000912 term browser browse the term
Definition:An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate.
Synonyms:exact_synonym: ARLIAK
 primary_id: OMIM:618384
 xref: EFO:0010262

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Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23265383 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936514:6,554,605...6,594,014
Ensembl chrNW_004936514:6,554,608...6,592,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        inherited metabolic disorder 5212
          Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            Leukoencephalopathies 487
              Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
paths to the root