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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 E3-Binding Protein Deficiency
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Accession:DOID:9003678 term browser browse the term
Synonyms:exact_synonym: Dihydrolipoyl dehydrogenase;   Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex;   PDHX-RELATED CONDITION;   PDHXD
 primary_id: MESH:C565447
 alt_id: MIM:245349


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Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar PMID:25741868 NCBI chr 3:109,886,919...109,913,295
Ensembl chr 3:109,886,953...109,915,862 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency 		OMIM
CTD
ClinVar		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          pyruvate decarboxylase deficiency 67
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    X-Linked Intellectual Developmental Disorders 829
                      pyruvate decarboxylase deficiency 67
                        Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
paths to the root