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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 34
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Accession:DOID:0111497 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: COXPD34;   syndromic sensorineural deafness due to COXPD;   syndromic sensorineural deafness due to combined oxidative phosphorylation defect;   syndromic sensorineural hearing loss due to COXPD
 primary_id: OMIM:617872
 xref: ORDO:457223
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combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps7 mitochondrial ribosomal protein S7 JBrowse link 10 104,155,805 104,158,840 RGD:8554872
RGD:7240710

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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 34 1
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 34 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.