Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
ClinVar
OMIM
PMID:23265383 PMID:25741868 PMID:30635937 NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Leukoencephalopathies 501
              Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
paths to the root