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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:25741868 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 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        Metabolic Brain Diseases 577
          mitochondrial encephalomyopathy 48
            Hyperglycinemia, Lactic Acidosis, and Seizures 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    mitochondrial myopathy 88
                      mitochondrial encephalomyopathy 48
                        Hyperglycinemia, Lactic Acidosis, and Seizures 3
paths to the root