mitochondrial complex V (ATP synthase) deficiency

Term ID

DOID:0111143

Synonyms

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. https://www.ncbi.nlm.nih.gov/pubmed/21874297

References

GARD:1459
ORDO:254913
SNOMEDCT_US_2023_03_01:780820008
UMLS_CUI:C4757950

Ontology

Human Disease ( DOID:0111143 )

Relationships

is a type of: mitochondrial metabolism disease

mitochondrial metabolism disease Show first 5 Terms
has subtype: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ... Show All 8 Terms

mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations