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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 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 the EARS2 gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome		 OMIM
CTD
ClinVar		 PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25741868 More... NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ClinVar PMID:25741868 NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        mitochondrial metabolism disease 812
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 12 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                combined oxidative phosphorylation deficiency 12 2
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