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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:Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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Accession:DOID:9007747 term browser browse the term
Synonyms:exact_synonym: LBSL;   LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION;   Mitochondrial Aspartyl-tRNA Synthetase Deficiency
 primary_id: MESH:C567009;   RDO:0015198
 alt_id: OMIM:611105
For additional species annotation, visit the Alliance of Genome Resources.


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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ClinVar NCBI chr13:78,886,092...78,901,025
Ensembl chr13:78,886,163...78,901,420
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
ClinVar Annotator: match by OMIM:611105
ClinVar Annotator: match by null
ClinVar Annotator: match by term: MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
OMIM
ClinVar
PMID:17384640 PMID:19592391 PMID:21493805 PMID:21749991 PMID:21815884 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 PMID:28492532 PMID:30352563 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            mitochondrial metabolism disease 350
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 2
paths to the root