mitochondrial DNA depletion syndrome 2

Summary

DOID:0080120 - mitochondrial DNA depletion syndrome 2

Disease Ontology 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.

Synonyms: TK2-related mitochondrial DNA depletion syndrome, myopathic form,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sucla2, tk2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012301 - mitochondrial DNA depletion syndrome, myopathic form

MONDO:0012301 - mitochondrial DNA depletion syndrome, myopathic form

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)