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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:mitochondrial DNA depletion syndrome 8b
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Accession:DOID:0070331 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: familial visceral myopathy, external ophthalmoplegia;   familial visceral myopathy, with external ophthalmoplegia;   intestinal pseudoobstruction with external ophthalmoplegia;   oculogastrointestinal muscular dystrophy
 narrow_synonym: MTDPS8B;   mitochondrial DNA depletion syndrome 8B (MNGIE type);   mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
 primary_id: MIM:612075
 alt_id: MESH:C536350;   MIM:277320


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mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)		 OMIM
CTD
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        intestinal pseudo-obstruction 24
          Familial Visceral Myopathy 9
            mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        peripheral nervous system disease 4267
          neuropathy 4052
            neuromuscular disease 3198
              muscular disease 2219
                muscle tissue disease 1347
                  atrophic muscular disease 667
                    Brody myopathy 663
                      muscular dystrophy 647
                        oculopharyngeal muscular dystrophy 4
                          mitochondrial DNA depletion syndrome 8b 2
paths to the root