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Metadata
ID	DOID:0070463
Name	mitochondrial complex V (ATP synthase) deficiency nuclear type 5
Definition	A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/29478781/
Xrefs	MIM:618120
SKOS	exactMatch MIM:618120
Synonyms	MC5DN5 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a mitochondrial complex V (ATP synthase) deficiency
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance