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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 GFM1 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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:15537906 PMID:16199547 PMID:16632485 PMID:17160893 PMID:21119709 More... NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
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:25326637 PMID:28492532 PMID:29075935 NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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 chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
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 chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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 chr 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
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 chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      hepatic encephalopathy 34
        combined oxidative phosphorylation deficiency 1 6
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      gastrointestinal system disease 6620
        hepatobiliary disease 2773
          liver disease 2663
            Hepatic Insufficiency 158
              Liver Failure 150
                hepatic encephalopathy 34
                  combined oxidative phosphorylation deficiency 1 6
paths to the root