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Disease Ontology Browser
Sengers syndrome (DOID:0080132)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 10; mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Alt IDs: OMIM:212350, MESH:C538280, ORDO:1369
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory