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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: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060
OMIM
ClinVar
PMID:15537906, PMID:17160893, PMID:21119709, PMID:21986555, PMID:22277967, PMID:24033266, PMID:25741868, PMID:25852744, PMID:28216230, PMID:28492532, PMID:30311386, PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      hepatic encephalopathy 34
        combined oxidative phosphorylation deficiency 1 5
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        hepatobiliary disease 2496
          liver disease 2404
            Hepatic Insufficiency 138
              Liver Failure 130
                hepatic encephalopathy 34
                  combined oxidative phosphorylation deficiency 1 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.