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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 term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar
OMIM
PMID:27448789 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    syndrome 9625
      hepatic encephalopathy 35
        mitochondrial DNA depletion syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        peripheral nervous system disease 2990
          neuropathy 2782
            neuromuscular disease 2200
              muscular disease 1432
                muscle tissue disease 948
                  myopathy 778
                    mitochondrial myopathy 109
                      mitochondrial DNA depletion syndrome 15 1
paths to the root