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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sengers syndrome
OMIM
CTD
ClinVar
PMID:3560758 PMID:15168109 PMID:16199547 PMID:22277967 PMID:22284826 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      cardiovascular system disease 4908
        heart disease 2991
          cardiomyopathy 1182
            Sengers syndrome 2
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              lens disease 324
                cataract 317
                  Sengers syndrome 2
paths to the root