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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:combined oxidative phosphorylation deficiency 19
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Accession:DOID:0111476 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1. (DO)
Synonyms:exact_synonym: COXPD19;   severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
 primary_id: OMIM:615595
 xref: ORDO:397593
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by OMIM:615595
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19
OMIM
ClinVar
PMID:23814038 PMID:25741868 NCBI chr17:29,439,042...29,552,773
Ensembl chr17:29,438,980...29,552,790
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 19 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                combined oxidative phosphorylation deficiency 19 1
paths to the root