Disease Directory

Combined oxidative phosphorylation deficiency 28 is a condition that disrupts the body’s ability to produce energy efficiently due to impaired mitocho...

Combined oxidative phosphorylation deficiency 29 is a very rare genetic condition caused by mutations in the TXN2 gene that disrupt normal cellular en...

Combined oxidative phosphorylation deficiency 32 is a multi-system condition that affects energy production in the body. It is caused by pathogenic va...

Combined oxidative phosphorylation deficiency 33 is a multisystem disorder that affects mitochondrial energy production, particularly impacting the he...

Combined oxidative phosphorylation deficiency 34 is a multisystem condition that primarily affects energy metabolism, with key features involving mult...

Combined oxidative phosphorylation deficiency 35 is a condition affecting energy production in multiple organ systems, with significant impact on neur...

Combined oxidative phosphorylation deficiency 36, also known as COXPD36, is a multisystem metabolic disorder affecting energy production in cells. The...

Combined oxidative phosphorylation deficiency 37 is a multisystem disorder that primarily affects energy production in the body, with significant invo...

Combined oxidative phosphorylation deficiency 38 is a multisystem condition that affects energy production in the body, with a significant impact on t...

Combined oxidative phosphorylation deficiency 39 is a multisystem condition that primarily affects mitochondrial energy production. It is caused by pa...

Combined oxidative phosphorylation deficiency 40 is a multi-system condition that affects several organ systems, including the hematologic, cardiac, m...

Combined oxidative phosphorylation deficiency 41 is a multi-system condition that affects energy production in several organs, leading to a range of c...

Combined oxidative phosphorylation deficiency 42 is a multisystem condition that disrupts the body’s energy production processes. It is caused by path...

Combined oxidative phosphorylation deficiency 43 is a multisystem disorder that primarily affects energy production and growth in early infancy. It is...

Combined oxidative phosphorylation deficiency 44 is an inherited disorder that affects the body’s ability to produce energy at the cellular level, lea...

Combined oxidative phosphorylation deficiency 45 is a multisystem condition that disrupts the body’s ability to generate energy effectively. It is cau...

Combined oxidative phosphorylation deficiency 46 is a multisystem condition that primarily affects mitochondrial energy production. It is characterize...

Combined oxidative phosphorylation deficiency 47 (COXPD47) is a multisystem disorder that affects energy production and development. The condition is...

Combined oxidative phosphorylation deficiency 48 is a multi-system disorder that primarily affects energy production in cells, with notable impact on...

Combined oxidative phosphorylation deficiency 51 (COXPD51) is a complex multisystem condition that primarily affects energy production in the body. It...