Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 8b
go back to main search page
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, with External Ophthalmoplegia;   familial visceral myopathy, external ophthalmoplegia;   intestinal pseudoobstruction with external ophthalmoplegia;   oculogastrointestinal muscular dystrophy
 narrow_synonym: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED;   MTDPS8B;   Mitochondrial DNA depletion syndrome 8B (MNGIE type)
 primary_id: MESH:C536350
 alt_id: OMIM:612075;   RDO:0001901
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    muscular dystrophy 277
                      oculopharyngeal muscular dystrophy 4
                        mitochondrial DNA depletion syndrome 8b 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.