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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 37
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Accession:DOID:0111499 term browser browse the term
Definition:An autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction.
Synonyms:exact_synonym: COXPD37;   MITOCHONDRIAL HEPATO-ENCEPHALOPATHY
 primary_id: OMIM:618329
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combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 JBrowse link 9 10,446,567 10,449,566 RGD:8554872
RGD:7240710

Term paths to the root
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 37 1
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 37 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.