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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 8A
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Accession:DOID:0080127 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: MNGIE Disease;   MTDPS8A;   Mitochondrial Neurogastrointestinal Encephalopathy Disease;   Mitochondrial Neurogastrointestinal Encephalopathy Syndrome;   Mngie Without Leukoencephalopathy;   RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy;   mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);   mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive;   mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction;   oculogastrointestinal muscular dystrophy;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction;   thymidine phosphorylase deficiency
 narrow_synonym: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE;   MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE);   MNGIE, RRM2B-RELATED;   NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
 broad_synonym: RRM2B-related mitochondrial disease
 primary_id: MESH:C537477
 alt_id: OMIM:612075
 xref: GARD:13200
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial DNA depletion syndrome 8A 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION 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 Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:9536098 PMID:17486094 PMID:17576681 PMID:19138848 PMID:19664747 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      mitochondrial DNA depletion syndrome 8A 5
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 48
                        mitochondrial DNA depletion syndrome 8A 5
paths to the root