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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
For additional species annotation, visit the Alliance of Genome Resources.

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Sengers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
ClinVar Annotator: match by term: Cataract and cardiomyopathy
ClinVar Annotator: match by OMIM:212350
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3560758, PMID:15168109, PMID:22277967, PMID:22284826, PMID:22415731, PMID:23266196, PMID:24088041, PMID:25208612, PMID:25326635, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28868593 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract and cardiomyopathy ClinVar PMID:22277967, PMID:22284826, PMID:28492532 NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            Sengers syndrome 3
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            mitochondrial metabolism disease 339
              mitochondrial DNA depletion syndrome 27
                Sengers syndrome 3
paths to the root

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