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

ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 4B
go back to main search page
Accession:DOID:0080123 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: MNGIE, POLG-related;   MTDPS4B;   Mitochondrial DNA Depletion Syndrome 4B (MNGIE Type);   mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related
 primary_id: OMIM:613662
 alt_id: RDO:0009932
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 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 4B 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                mitochondrial DNA depletion syndrome 4B 1
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.