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ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperglycinemia, Lactic Acidosis, and Seizures
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Accession:DOID:9000776 term browser browse the term
Synonyms:exact_synonym: HGCLAS;   PDHLD;   PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
 primary_id: OMIM:614462
 alt_id: RDO:9000662
For additional species annotation, visit the Alliance of Genome Resources.


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Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        Metabolic Brain Diseases 436
          mitochondrial encephalomyopathy 44
            Hyperglycinemia, Lactic Acidosis, and Seizures 3
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      nervous system disease 9229
        peripheral nervous system disease 2010
          neuropathy 1827
            neuromuscular disease 1393
              muscular disease 890
                muscle tissue disease 613
                  myopathy 496
                    mitochondrial myopathy 72
                      mitochondrial encephalomyopathy 44
                        Hyperglycinemia, Lactic Acidosis, and Seizures 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.