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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 5
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Accession:DOID:0111473 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23. (DO)
Synonyms:exact_synonym: COXPD5;   hypotonia with lactic acidemia and hyperammonemia
 primary_id: MESH:C567126
 alt_id: OMIM:611719
 xref: ORDO:137908
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combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:7240710
RGD:8554872

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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 5 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 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.