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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;   RDO:9000835
For additional species annotation, visit the Alliance of Genome Resources.



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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 Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by OMIM:613710
ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar
OMIM
PMID:19798730 PMID:25741868 PMID:28492532 NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Nutritional and Metabolic Diseases 5551
      disease of metabolism 5551
        inherited metabolic disorder 2636
          Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          inherited metabolic disorder 2636
            Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
paths to the root