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Metadata
ID	DOID:0070449
Name	mitochondrial DNA depletion syndrome 18
Definition	A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. https://pubmed.ncbi.nlm.nih.gov/29517768/
Xrefs	MIM:618811
SKOS	exactMatch MIM:618811
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease