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 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 24
            mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 668
                  myopathy 547
                    muscular dystrophy 275
                      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.