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Metadata
ID	DOID:0080130
Name	mitochondrial DNA depletion syndrome 12a
Definition	A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. https://www.ncbi.nlm.nih.gov/pubmed/27693233
Xrefs	MIM:617184 NCI:C129977
Subsets	NCIthesaurus
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal dominant disease