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RGD uses the Human Disease Ontology (DO, 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 12
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Accession:DOID:0111493 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2. (DO)
Synonyms:exact_synonym: COXPD12;   LTBL;   leukoencephalopathy with thalamus and brainstem involvement and high lactate;   leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
 primary_id: OMIM:614924
 xref: GARD:13381;   ORDO:314051
For additional species annotation, visit the Alliance of Genome Resources.

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combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:614924
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12
PMID:22492562 PMID:23008233 PMID:25741868 PMID:26780086 PMID:26893310 PMID:28492532 PMID:28748214 PMID:28748215 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
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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 12 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 12 1
paths to the root