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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

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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) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM
ClinVar		 PMID:7609449 PMID:8479824 PMID:9207786 PMID:16155110 PMID:21549803 More... NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13824
      cardiovascular system disease 4077
        heart disease 2854
          cardiomyopathy 1147
            mitochondrial DNA depletion syndrome 12b 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13824
      nervous system disease 12093
        peripheral nervous system disease 3831
          neuropathy 3650
            neuromuscular disease 2853
              muscular disease 2005
                muscle tissue disease 1204
                  myopathy 934
                    mitochondrial myopathy 110
                      mitochondrial DNA depletion syndrome 12b 1
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