ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 1
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Accession:DOID:0080119 term browser browse the term
Definition:A mitochondrial metabolism disorder that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13 and is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. (DO)
Synonyms:exact_synonym: MNGIE, TYMP-RELATED;   MTDPS1;   MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME;   Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type);   POLIP SYNDROME;   mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction
 primary_id: OMIM:603041
 alt_id: RDO:0009878
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mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:11554173
RGD:8554872
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:7240710
RGD:8554872

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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        mitochondrial metabolism disease 329
          Mitochondrial DNA Depletion Syndromes 23
            mitochondrial DNA depletion syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                mitochondrial DNA depletion syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.