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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 21
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Accession:DOID:0112088 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 NUBPL gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: MC1DN21;   NUBPL-RELATED CONDITION
 primary_id: OMIM:618242



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nuclear type mitochondrial complex I deficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: NUBPL-related condition OMIM
ClinVar
PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 More... NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        mitochondrial metabolism disease 810
          mitochondrial complex I deficiency 70
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 21 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            mitochondrial metabolism disease 810
              mitochondrial complex I deficiency 70
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 21 1
paths to the root