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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 12a
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Accession:DOID:0080130 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (DO)
Synonyms:exact_synonym: MTDPS12A;   autosomal dominant mitochondrial DNA depletion syndrome-12A;   mitochondrial DNA depletion syndrome 12 (cardiomyopathic type);   mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD;   mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
 broad_synonym: MTDPS12;   mitochondrial DNA depletion syndrome 12
 primary_id: MIM:617184
 alt_id: RDO:9000942;   RDO:9001714
 xref: NCI:C129977



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mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ClinVar PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,710,086...153,733,162 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr15:87,055,490...87,086,765 JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 NCBI chr16:46,072,935...46,076,730 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      thoracic disease 4050
        heart disease 3477
          cardiomyopathy 1430
            mitochondrial DNA depletion syndrome 12a 3
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        peripheral nervous system disease 4382
          neuropathy 4170
            neuromuscular disease 3218
              muscular disease 2225
                muscle tissue disease 1353
                  myopathy 1045
                    mitochondrial myopathy 99
                      mitochondrial DNA depletion syndrome 12a 3
paths to the root