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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 13
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Accession:DOID:0080131 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (DO)
Synonyms:exact_synonym: FBXL4 deficiency;   FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome;   MTDPS13;   mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
 primary_id: OMIM:615471
 alt_id: RDO:9000956
 xref: GARD:13298;   ORDO:369897
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mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 13 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 encephalomyopathy 46
                        mitochondrial DNA depletion syndrome 13 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.