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ONTOLOGY REPORT - ANNOTATIONS


Term:Sengers syndrome
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Accession:DOID:0080132 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: MTDPS10;   cataract and cardiomyopathy;   mitochondrial DNA depletion syndrome 10;   mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
 narrow_synonym: AGK-related disorder;   AGK-related disorders
 primary_id: MESH:C538280
 alt_id: OMIM:212350;   RDO:0004242
 xref: GARD:1142
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Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      cardiovascular system disease 4377
        heart disease 2600
          cardiomyopathy 1043
            Sengers syndrome 3
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          inherited metabolic disorder 2179
            mitochondrial metabolism disease 324
              mitochondrial DNA depletion syndrome 26
                Sengers syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.