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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 24
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Accession:DOID:0111485 term browser browse the term
Definition:An autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A). COXPD24 is caused by homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14. (OMIM)
Synonyms:exact_synonym: COXPD24
 primary_id: OMIM:616239
 xref: ORDO:444458
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 OMIM
ClinVar
PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 PMID:26467025 PMID:28077841 PMID:30327238 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
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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 24 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 24 1
paths to the root