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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 disease characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. (OMIM)
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: OMIM:617184
 alt_id: RDO:9000942;   RDO:9001714
 xref: NCI:C129977
For additional species annotation, visit the Alliance of Genome Resources.


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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 Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar
OMIM
PMID:25741868, PMID:27693233 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            mitochondrial DNA depletion syndrome 12a 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    mitochondrial myopathy 89
                      mitochondrial DNA depletion syndrome 12a 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.