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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:SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
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Accession:DOID:9008341 term browser browse the term
Definition:This is a disease characterized by a variable phenotype ranging from no clinical symptoms (most patients) to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting.
Synonyms:exact_synonym: SQORD
 pimary_id: OMIM:619221
For additional species annotation, visit the Alliance of Genome Resources.



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SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ClinVar
OMIM
PMID:32160317 NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY 1
paths to the root