Combined oxidative phosphorylation defect type 15 is a very rare inherited disease that affects how the “power stations” of the cell, called mitochondria, make ...

FARS2 combined oxidative phosphorylation deficiency is a very rare mitochondrial disease. It happens when a gene called FARS2 does not work properly, so the ...

Combined oxidative phosphorylation deficiency caused by mutation in FARS2 is a very rare genetic disease that affects how the “power plants” of the cell, ...

Combined oxidative phosphorylation defect type 14 (often written as COXPD14) is a very rare, serious genetic disease that affects how the tiny “power stations” ...

PNPT1 combined oxidative phosphorylation deficiency type 13 (often shortened to COXPD13) is a very rare genetic disease that mainly affects how the body’s ...

Combined oxidative phosphorylation defect type 13 (often shortened to COXPD13) is a very rare genetic disease that affects how the tiny “power plants” inside ...

RMND1 combined oxidative phosphorylation deficiency type 11 is a very rare genetic mitochondrial disease. It happens when both copies of a gene called RMND1 do ...

Combined oxidative phosphorylation deficiency caused by mutation in RMND1 is a very rare inherited disease in which the tiny “power stations” of the cell ...

Hereditary xanthinuria type 2 is a very rare, life-long (genetic) disease of purine metabolism, which is the way the body breaks down some building blocks of ...

Deficiency of molybdenum cofactor (often shortened to MoCD) is a very rare inherited disease. In this disease, the body cannot make a tiny helper molecule ...

Combined malonic and methylmalonic acidemia (CMAMMA) is a very rare genetic disease. It happens when the body cannot handle two natural chemicals called ...

Immunodeficiency with granulomatosis is a health problem where the immune system is weak and does not work in a normal way, and at the same time the body makes ...

Combined immunodeficiency due to RAG1/2 deficiency is a serious inherited disease where the immune system cannot build normal T cells and B cells, which are ...

Combined immunodeficiency with skin granulomas is a rare inherited immune system disease. In this condition, both main arms of the adaptive immune system (T ...

Roifman-Chitayat syndrome (often shortened to ROCHIS) is a combined primary immunodeficiency. “Combined” means both the antibody-producing (B-cell) and T-cell ...

Combined immunodeficiency with faciooculoskeletal anomalies is a very rare genetic disease. It affects the immune system, the face, the eyes, the bones, and ...

Zeta-associated-protein 70 deficiency (often called ZAP-70 deficiency) is a rare, inherited problem of the immune system. It mainly affects T cells, which are ...

Combined immunodeficiency due to ZAP70 deficiency is a very rare genetic immune system disease where a child’s T cells do not work properly because a key ...

T-cell immunodeficiency with recurrent infections, autoimmunity, and cardiac (heart) malformations is a group of problems where the body’s defense system and ...

Combined immunodeficiency due to STK4 deficiency is a rare, inherited disease of the immune system. In this condition, a gene called STK4 (also called MST1) ...