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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 4B
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Accession:DOID:0080123 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: MNGIE, POLG-related;   MTDPS4B;   mitochondrial DNA depletion syndrome 4B (MNGIE type);   mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related
 primary_id: OMIM:613662
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mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    Nutritional and Metabolic Diseases 4634
      disease of metabolism 4634
        mitochondrial metabolism disease 324
          mitochondrial DNA depletion syndrome 26
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 5
              mitochondrial DNA depletion syndrome 4B 2
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          inherited metabolic disorder 2177
            mitochondrial metabolism disease 324
              mitochondrial DNA depletion syndrome 26
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 5
                  mitochondrial DNA depletion syndrome 4B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.