ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 8A
go back to main search page
Accession:DOID:0080127 term browser browse the term
Synonyms:exact_synonym: MNGIE Disease;   MNGIE Syndrome;   MTDPS8A;   Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive;   Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction;   Mitochondrial Neurogastrointestinal Encephalopathy Disease;   Mitochondrial Neurogastrointestinal Encephalopathy Syndrome;   Mngie Without Leukoencephalopathy;   Myoneurogastrointestinal encephalopathy syndrome;   Oculogastrointestinal Muscular Dystrophy;   POLIP Syndrome;   Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction;   Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction;   mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);   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);   MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED;   MNGIE, RRM2B-RELATED;   MTDPS8B;   Mitochondrial DNA depletion syndrome 8B (MNGIE type);   NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
 broad_synonym: RRM2B-related mitochondrial disease
 primary_id: MESH:C537477
 alt_id: OMIM:612075;   RDO:0003322;   RDO:0009591
 xref: GARD:13200
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 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      mitochondrial DNA depletion syndrome 8A 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 79
                      mitochondrial encephalomyopathy 43
                        mitochondrial DNA depletion syndrome 8A 4
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.