Disease Directory

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disorder that affects energy production and muscle function. It is caused by...

Combined oxidative phosphorylation defect type 14 is a severe metabolic disorder that affects multiple organ systems, with a primary impact on the bra...

Combined oxidative phosphorylation defect type 15 is a mitochondrial disorder that affects energy production in cells. It is caused by pathogenic vari...

Combined oxidative phosphorylation defect type 17 is a disorder of mitochondrial energy metabolism caused by mutations in the ELAC2 gene. It typically...

Combined oxidative phosphorylation defect type 2 is a severe mitochondrial disorder that affects multiple systems from the earliest stages of developm...

Combined oxidative phosphorylation defect type 20 is a severe multisystem disorder affecting several organs, including the brain, heart, and muscles....

Combined oxidative phosphorylation defect type 21 is a very rare mitochondrial condition that primarily affects energy production in cells. It results...

Combined oxidative phosphorylation defect type 23 is a condition that affects cellular energy production by impairing the mitochondrial oxidative phos...

Combined oxidative phosphorylation defect type 24 is a condition affecting energy production in cells due to abnormalities in mitochondrial function....

Combined oxidative phosphorylation defect type 25 is a condition in which the body’s ability to produce energy is impaired due to a mutation in the MA...

Combined oxidative phosphorylation defect type 26 is a multisystem disorder caused by pathogenic variants in the TRMT5 gene that impair mitochondrial...

Combined oxidative phosphorylation defect type 27 is a very rare multisystem disorder caused by mutations in the CARS2 gene, which is essential for mi...

Combined oxidative phosphorylation defect type 30 is a severe disorder affecting mitochondrial energy production, caused by mutations in the TRMT10C g...

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder that affects energy production in multiple organ systems. It is caus...

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial condition that affects energy production in cells, particularly impacting the...

Combined oxidative phosphorylation defect type 8 is a mitochondrial disorder that impairs the production of essential energy in cardiac, skeletal musc...

Combined oxidative phosphorylation defect type 9 is a mitochondrial disorder that impairs energy production due to a defect in mitochondrial protein s...

Combined oxidative phosphorylation deficiency is a mitochondrial disorder characterized by dysfunction in multiple respiratory chain complexes. As a c...

Combined oxidative phosphorylation deficiency 19 is a severe metabolic condition resulting from pathogenic variants in the LYRM4 gene and affects mito...

Combined oxidative phosphorylation deficiency 22 is a severe metabolic disorder that primarily affects multiple organ systems, particularly the nervou...