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RGD uses the Human Disease Ontology (DO, 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 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;   NCI:C172095;   ORDO:369897
For additional species annotation, visit the Alliance of Genome Resources.

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mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27858371 PMID:28492532 PMID:28940506 PMID:31474762 PMID:32576985 NCBI chr 5:36,555,061...36,628,920
Ensembl chr 5:36,555,109...36,629,689
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          mitochondrial DNA depletion syndrome 29
            mitochondrial DNA depletion syndrome 13 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    mitochondrial myopathy 88
                      mitochondrial encephalomyopathy 48
                        mitochondrial DNA depletion syndrome 13 1
paths to the root