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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 19
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Accession:DOID:0111476 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1. (DO)
Synonyms:exact_synonym: COXPD19;   severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
 primary_id: OMIM:615595
 alt_id: DOID:9006418;   RDO:9001007
 xref: ORDO:397593
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combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        inherited metabolic disorder 1877
          combined oxidative phosphorylation deficiency 19 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                combined oxidative phosphorylation deficiency 19 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.