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Metadata
ID	DOID:0112090
Name	nuclear type mitochondrial complex I deficiency 27
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. https://pubmed.ncbi.nlm.nih.gov/22499348/
Xrefs	OMIM:618248
Synonyms	MC1DN27 [EXACT]
Parent Relationships	is_a nuclear type mitochondrial complex I deficiency is_a autosomal recessive disease