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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 4B
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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
For additional species annotation, visit the Alliance of Genome Resources.



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mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        mitochondrial metabolism disease 442
          mitochondrial DNA depletion syndrome 37
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
              mitochondrial DNA depletion syndrome 4B 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            mitochondrial metabolism disease 442
              mitochondrial DNA depletion syndrome 37
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
                  mitochondrial DNA depletion syndrome 4B 2
paths to the root