ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 8A
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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);   MNGIE, RRM2B-RELATED;   NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
 broad_synonym: RRM2B-related mitochondrial disease
 primary_id: MESH:C537477
 alt_id: OMIM:612075;   RDO:0003322;   RDO:0009591
 xref: GARD:13200
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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
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872

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  disease 14920
    syndrome 4714
      mitochondrial DNA depletion syndrome 8A 4
Path 2
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  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                muscle tissue disease 635
                  myopathy 522
                    mitochondrial myopathy 78
                      mitochondrial encephalomyopathy 43
                        mitochondrial DNA depletion syndrome 8A 4
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