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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 15
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Accession:DOID:0080337 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: MTDPS15;   mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
 primary_id: OMIM:617156
 alt_id: RDO:9001295
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM
PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      hepatic encephalopathy 34
        mitochondrial DNA depletion syndrome 15 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 15 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.