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ONTOLOGY REPORT - ANNOTATIONS


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
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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Nutritional and Metabolic Diseases 4630
      disease of metabolism 4630
        mitochondrial metabolism disease 323
          Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          inherited metabolic disorder 2177
            mitochondrial metabolism disease 323
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.