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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:Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
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Accession:DOID:9003549 term browser browse the term
Synonyms:exact_synonym: THMD5;   episodic encephalopathy due to thiamine pyrophosphokinase deficiency
 primary_id: OMIM:614458


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Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOBOX NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) ClinVar PMID:22152682 PMID:25458521 PMID:28492532 NCBI chr 7:136,111,451...136,124,418
Ensembl chr 7:148,599,700...148,612,657 		JBrowse link
G TPK1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152682 PMID:25458521 More... NCBI chr 7:136,165,941...136,549,606
Ensembl chr 7:148,654,445...149,036,342 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        inherited metabolic disorder 5521
          Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            Metabolic Brain Diseases 1502
              Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 2
paths to the root