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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:Pyruvate Dehydrogenase Phosphatase Deficiency
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Accession:DOID:9005740 term browser browse the term
Synonyms:exact_synonym: Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency;   PDHPD
 primary_id: MESH:C536258;   RDO:0001763
 alt_id: OMIM:608782

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Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936473:2,580,642...2,586,266
Ensembl chrNW_004936473:2,580,618...2,586,266 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency OMIM
ClinVar		 PMID:15855260 PMID:19184109 PMID:25741868 PMID:28492532 PMID:31392110 NCBI chrNW_004936544:7,008,882...7,017,446
Ensembl chrNW_004936544:7,009,486...7,018,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        acquired metabolic disease 2142
          metabolic acidosis 96
            lactic acidosis 81
              Pyruvate Dehydrogenase Phosphatase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        Acid-Base Imbalance 135
          Acidoses 128
            metabolic acidosis 96
              lactic acidosis 81
                Pyruvate Dehydrogenase Phosphatase Deficiency 2
paths to the root