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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


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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 LOC129933372 ATAC-STARR-seq lymphoblastoid active region 15495 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar
G MPV17 mitochondrial inner membrane protein MPV17 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP
EXP		 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      hepatic encephalopathy 37
        mitochondrial DNA depletion syndrome 15 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  myopathy 1391
                    mitochondrial myopathy 179
                      mitochondrial DNA depletion syndrome 15 3
paths to the root