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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 11
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Accession:DOID:9006123 term browser browse the term
Definition:An autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy. Caused by homozygous mutation in the UQCRH gene on chromosome 1p33.
Synonyms:exact_synonym: MC3DN11
 primary_id: MIM:620137


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Mitochondrial Complex III Deficiency Nuclear Type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrh ubiquinol-cytochrome c reductase hinge protein ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 OMIM
ClinVar		 PMID:34750991 NCBI chr 5:134,782,687...134,790,882
Ensembl chr 5:134,782,255...134,790,926 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          mitochondrial complex III deficiency 14
            Mitochondrial Complex III Deficiency Nuclear Type 11 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            mitochondrial metabolism disease 836
              mitochondrial complex III deficiency 14
                Mitochondrial Complex III Deficiency Nuclear Type 11 1
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