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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 14
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Accession:DOID:0111477 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1. (DO)
Synonyms:exact_synonym: COXPD14
 primary_id: OMIM:614946
 xref: ORDO:319519
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22499341 PMID:22833457 PMID:24161539 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:24161539 PMID:25741868 PMID:28492532 PMID:32007496 NCBI chr17:28,746,442...28,861,849
Ensembl chr17:28,746,469...28,861,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 83
            combined oxidative phosphorylation deficiency 14 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                combined oxidative phosphorylation deficiency 14 2
paths to the root