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DOID:0070448 - mitochondrial DNA depletion syndrome 17
Disease Ontology Definition:A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.
Synonyms:
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee