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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710

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  disease 15603
    syndrome 5215
      hepatic encephalopathy 34
        mitochondrial DNA depletion syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial DNA depletion syndrome 15 1
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