FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ID (Ontology) DOID:0070464 (Human Disease)
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.
Also Known As "MC5DN7"
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DO.org
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 Genes
 mitochondrial complex V (ATP synthase) deficiency nuclear type 7       1
 for disease ribbon | mitochondrial complex V (ATP synthase) deficiency nuclear type 7       1
 model of | mitochondrial complex V (ATP synthase) deficiency nuclear type 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________________
mitochondrial metabolism disease                       |
 |__mitochondrial complex V (ATP synthase) deficiency__|
                                                       mitochondrial complex V (ATP synthase) deficiency nuclear type 7  1 rec.
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Is a autosomal recessive disease
mitochondrial complex V (ATP synthase) deficiency
Part of
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Synonyms
  • "MC5DN7" EXACT OMO:0003012
Secondary IDs
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MIM:620359