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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 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
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Accession:DOID:9004450 term browser browse the term
Synonyms:exact_synonym: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY;   STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY;   THMD4
 primary_id: OMIM:613710


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Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIF4GD-DT MIF4GD divergent transcript IAGP ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31295743 NCBI chr17:75,271,299...75,273,895
Ensembl chr17:75,271,369...75,273,895 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP
EXP		 ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10566
      disease of metabolism 10566
        inherited metabolic disorder 7854
          Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7854
            Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 2
paths to the root