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Summary Literature (0)
DOID:0080132 - Sengers syndrome

Disease Ontology 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.

Synonyms: mitochondrial DNA depletion syndrome 10, mitochondrial DNA depletion syndrome 10 (cardiomyopathic type),

Xenbase Genes : agk, slc25a4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008922 - Sengers syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)