mitochondrial respiratory chain complex deficiency
MONDO:0000066Mondo
Findings
No curated finding names mitochondrial respiratory chain complex deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.
Definition from the Mondo Disease Ontology (MONDO:0000066), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (9)
- mitochondrial complex I deficiency
- mitochondrial complex III deficiency
- mitochondrial complex IV deficiency, nuclear-type
- 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 4B
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
- SDHC-related Mitochondrial Disease
Other names
2 names
Resolves to: mitochondrial respiratory chain complex deficiency
- Also called
- isolated oxidative phosphorylation complex disordermitochondrial complex deficiency