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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 7
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Accession:DOID:0112092 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22. (DO)
Synonyms:exact_synonym: MC1DN7
 primary_id: OMIM:618229
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 ClinVar
OMIM
PMID:9570948 PMID:26008862 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        mitochondrial metabolism disease 349
          mitochondrial complex I deficiency 60
            nuclear type mitochondrial complex I deficiency 47
              nuclear type mitochondrial complex I deficiency 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          inherited metabolic disorder 2233
            mitochondrial metabolism disease 349
              mitochondrial complex I deficiency 60
                nuclear type mitochondrial complex I deficiency 47
                  nuclear type mitochondrial complex I deficiency 7 1
paths to the root