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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:nuclear type mitochondrial complex I deficiency 29
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Accession:DOID:0112084 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: MC1DN29
 primary_id: OMIM:618250


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nuclear type mitochondrial complex I deficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM
ClinVar		 PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 More... NCBI chr 9:19,547,664...19,555,247
Ensembl chr 9:19,547,647...19,556,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          mitochondrial complex I deficiency 70
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 29 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5435
            mitochondrial metabolism disease 798
              mitochondrial complex I deficiency 70
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 29 1
paths to the root