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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 8
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Accession:DOID:0111479 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1. (DO)
Synonyms:exact_synonym: COXPD8;   fatal infantile mitochondrial cardiomyopathy;   hypertrophic mitochondrial cardiomyopathy, fatal infantile
 primary_id: OMIM:614096
 xref: ORDO:319504
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combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 8 2
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 8 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.