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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: 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 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
Ensembl chr 5:153,710,094...153,732,153
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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:27693233 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      cardiovascular system disease 4830
        heart disease 2958
          cardiomyopathy 1159
            mitochondrial DNA depletion syndrome 12a 3
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          neuropathy 2780
            neuromuscular disease 2202
              muscular disease 1432
                muscle tissue disease 949
                  myopathy 780
                    mitochondrial myopathy 110
                      mitochondrial DNA depletion syndrome 12a 3
paths to the root