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Metadata
ID DOID:0070464
Name mitochondrial complex V (ATP synthase) deficiency nuclear type 7
Definition A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
https://pubmed.ncbi.nlm.nih.gov/34954817/, https://pubmed.ncbi.nlm.nih.gov/35621276/
Xrefs

MIM:620359

Synonyms

MC5DN7 [EXACT]

Parent Relationships

is_a mitochondrial complex V (ATP synthase) deficiency

is_a autosomal recessive disease

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