Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:mitochondrial DNA depletion syndrome 15
go back to main search page
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.

show annotations for term's descendants       view all columns           Sort by:
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      hepatic encephalopathy 32
        mitochondrial DNA depletion syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    mitochondrial myopathy 75
                      mitochondrial DNA depletion syndrome 15 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.