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Metadata
ID	DOID:0070448
Name	mitochondrial DNA depletion syndrome 17
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. https://pubmed.ncbi.nlm.nih.gov/28973171/
Xrefs	MIM:618567
SKOS	exactMatch MIM:618567
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance