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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 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        Metabolic Brain Diseases 475
          mitochondrial encephalomyopathy 46
            Hyperglycinemia, Lactic Acidosis, and Seizures 3
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        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.