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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by OMIM:614462
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
OMIM
ClinVar
PMID:2152680, PMID:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Metabolic Brain Diseases 573
          mitochondrial encephalomyopathy 51
            Hyperglycinemia, Lactic Acidosis, and Seizures 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        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.