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 6 ID (Ontology) DOID:0111749 (Human Disease)
Definition A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.
Also Known As "MC5DN6"
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 Genes
 mitochondrial complex V (ATP synthase) deficiency nuclear type 6       3
 for disease ribbon | mitochondrial complex V (ATP synthase) deficiency nuclear type 6       3
 model of | mitochondrial complex V (ATP synthase) deficiency nuclear type 6       3
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  mitochondrial metabolism disease
   |__mitochondrial complex V (ATP synthase) deficiency
       |__mitochondrial complex V (ATP synthase) deficiency nuclear type 6  3 rec.
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Is a mitochondrial complex V (ATP synthase) deficiency
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Synonyms
  • "MC5DN6" EXACT OMO:0003012
Secondary IDs
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MIM:618683