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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 1
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Accession:DOID:0111474 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. (DO)
Synonyms:exact_synonym: COXPD1;   early fatal progressive hepatoencephalopathy;   hepatoencephalopathy due to COXPD1;   hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
 primary_id: MESH:C563797
 alt_id: OMIM:609060
 xref: NCI:C125663;   ORDO:137681


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combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor mitochondrial 1 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 OMIM
ClinVar
PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chrNW_004955448:9,390,576...9,432,919
Ensembl chrNW_004955448:9,390,576...9,433,404
JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:28492532 PMID:29075935 NCBI chrNW_004955425:25,904,020...25,942,384
Ensembl chrNW_004955425:25,904,020...25,942,376
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955453:10,089,547...10,097,634
Ensembl chrNW_004955453:10,089,547...10,097,634
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955414:13,410,751...13,528,014
Ensembl chrNW_004955414:13,410,741...13,528,423
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955583:848,166...862,360
Ensembl chrNW_004955583:848,481...866,424
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9281
      hepatic encephalopathy 33
        combined oxidative phosphorylation deficiency 1 6
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      gastrointestinal system disease 5942
        hepatobiliary disease 2601
          liver disease 2508
            Hepatic Insufficiency 139
              Liver Failure 131
                hepatic encephalopathy 33
                  combined oxidative phosphorylation deficiency 1 6
paths to the root