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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 complex III deficiency nuclear type 8
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Accession:DOID:0080117 term browser browse the term
Definition:A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. (DO)
Synonyms:exact_synonym: MC3DN8
 primary_id: OMIM:615838


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mitochondrial complex III deficiency nuclear type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 OMIM
ClinVar		 PMID:24014394 PMID:25741868 PMID:26912632 PMID:28492532 PMID:34919756 More... NCBI chr 5:126,599,521...126,629,796
Ensembl chr 5:132,767,112...132,797,409 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        mitochondrial metabolism disease 810
          mitochondrial complex III deficiency 14
            mitochondrial complex III deficiency nuclear type 8 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            mitochondrial metabolism disease 810
              mitochondrial complex III deficiency 14
                mitochondrial complex III deficiency nuclear type 8 1
paths to the root