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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 10
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Accession:DOID:0111480 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13. (DO)
Synonyms:exact_synonym: COXPD10;   infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis;   mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
 primary_id: OMIM:614702
 xref: ORDO:314637
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combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 10 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal recessive disease 2078
                combined oxidative phosphorylation deficiency 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.