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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 TMEM126B on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: MC1DN29
 primary_id: OMIM:618250
For additional species annotation, visit the Alliance of Genome Resources.



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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:27374773 PMID:27374774 PMID:28492532 PMID:29093663 NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          mitochondrial complex I deficiency 64
            nuclear type mitochondrial complex I deficiency 50
              nuclear type mitochondrial complex I deficiency 29 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            mitochondrial metabolism disease 442
              mitochondrial complex I deficiency 64
                nuclear type mitochondrial complex I deficiency 50
                  nuclear type mitochondrial complex I deficiency 29 1
paths to the root