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Disease Ontology Browser
mitochondrial DNA depletion syndrome 2 (DOID:0080120)
Alliance: disease page
Synonyms: TK2-related mitochondrial DNA depletion syndrome, myopathic form
Alt IDs: OMIM:609560, MESH:C563698, ORDO:254875
Definition: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.

Disease References using Mouse Models (3)
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
11/12/2024
MGI 6.24 		The Jackson Laboratory