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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 12b
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Accession:DOID:0080335 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (DO)
Synonyms:exact_synonym: MTDPS12B;   autosomal recessive mitochondrial DNA depletion syndrome-12B;   mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR;   mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
 primary_id: OMIM:615418
 xref: ORDO:1369
For additional species annotation, visit the Alliance of Genome Resources.



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mitochondrial DNA depletion syndrome 12b 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 12b (cardiomyopathic type), autosomal recessive OMIM
ClinVar
PMID:7609449 PMID:8479824 PMID:16155110 PMID:22187496 PMID:25732997 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        heart disease 2702
          cardiomyopathy 1096
            mitochondrial DNA depletion syndrome 12b 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    mitochondrial myopathy 90
                      mitochondrial DNA depletion syndrome 12b 1
paths to the root