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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial complex II deficiency
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Accession:DOID:0060537 term browser browse the term
Definition:A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: Succinate CoQ Reductase Deficiency;   isolated mitochondrial respiratory chain complex II deficiency;   isolated succinate-CoQ reductase deficiency;   isolated succinate-coenzyme Q reductase deficiency;   isolated succinate-ubiquinone reductase deficiency
 primary_id: MESH:C565375;   RDO:0014026
 alt_id: OMIM:252011
 xref: GARD:5053;   ORDO:3208
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mitochondrial complex II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:7240710
RGD:8554872
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 JBrowse link 1 88,779,476 88,780,425 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:7240710
RGD:8554872

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  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1884
          mitochondrial complex II deficiency 3
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            mitochondrial metabolism disease 310
              mitochondrial complex II deficiency 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.