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ONTOLOGY REPORT - ANNOTATIONS


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
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combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:7240710
RGD:8554872
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 14 2
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                combined oxidative phosphorylation deficiency 14 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.