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 ID (Ontology) DOID:0111143 (Human Disease)
Definition A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      14
Human Disease Models (FBhh)  DOID       2
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 mitochondrial complex V (ATP synthase) deficiency      14      1      2
 model of | mitochondrial complex V (ATP synthase) deficiency      14       --       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__mitochondrial complex V (ATP synthase) deficiency  33 rec.
           |__mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 1 1 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4 1 rec.
           |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4A 1 rec.
           |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4B 1 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 5 7 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 6 3 rec.
           |__mitochondrial complex V (ATP synthase) deficiency nuclear type 7 1 rec.
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Is a mitochondrial metabolism disease
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Synonyms
Secondary IDs
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GARD:1459
ORDO:254913
SNOMEDCT_US_2023_03_01:780820008
UMLS_CUI:C4757950