Metadata | |
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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 | |
Synonyms |
MC5DN7 [EXACT] |
Parent Relationships |