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RGD uses the Human Disease Ontology (DO, 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: MESH:C536350
 alt_id: OMIM:277320;   OMIM:612075
For additional species annotation, visit the Alliance of Genome Resources.

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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 Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
PMID:19667227 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16972839 PMID:16995425 PMID:19344718 PMID:19853446 PMID:20151198 PMID:20232099 PMID:20301358 PMID:22977166 PMID:23341816 PMID:23430799 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        mitochondrial metabolism disease 349
          mitochondrial DNA depletion syndrome 29
            mitochondrial DNA depletion syndrome 8b 3
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 791
                  myopathy 643
                    muscular dystrophy 313
                      oculopharyngeal muscular dystrophy 5
                        mitochondrial DNA depletion syndrome 8b 3
paths to the root