Combined oxidative phosphorylation deficiency caused by mutation in PNPT1 (also called COXPD13) is a very rare inherited mitochondrial disease. It happens when ...

Combined oxidative phosphorylation defect type 11 (often shortened to COXPD11) is a very rare, inherited disease that affects the “power stations” of the ...

Xanthine oxidase–sulfite oxidase deficiency is a very rare, serious genetic disease. In this condition, two important enzymes in the body, xanthine oxidase ...

Sulfite oxidase deficiency due to molybdenum cofactor deficiency is a very rare genetic disease. In this condition, the body cannot make a small helper ...

Combined xanthine oxidase and aldehyde oxidase deficiency is a very rare inherited problem with body chemistry. In this condition, two enzymes called xanthine ...

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase is a very rare, serious inherited metabolic disease. In simple words, the ...

Immune dysfunction due to T-cell inactivation from a calcium entry defect is a very rare, inherited immune system disease. In this condition, T cells (a type ...

Combined immunodeficiency due to CD3-gamma (CD3γ) deficiency is a very rare, inherited disease of the immune system. In this condition, a small protein called ...

Combined deficiency of factor V and factor VIII is a rare inherited bleeding problem in which the blood has low levels of both factor V (FV) and factor VIII ...

Colorado tick-borne disease usually means Colorado tick fever (CTF), a rare viral infection spread by the bite of an infected Rocky Mountain wood tick ...

Colorado tick encephalitis is a brain infection that starts from a virus called Colorado tick fever virus. This virus is carried by a tick called the Rocky ...

American mountain fever is most commonly another name for Colorado tick fever (CTF). It is a rare virus illness that people usually get after a bite from an ...

Colorado tick fever is a viral illness that humans get after the bite of an infected Rocky Mountain wood tick (scientific name Dermacentor andersoni). The ...

Ciliary neurotrophic factor receptor-related disorder is another name for a very rare genetic disease called cold-induced sweating syndrome (CISS). It mainly ...

Iris nevus syndrome is a rare eye disease where the front layer of the eye (the clear cornea and the colored iris) is changed by a thin, abnormal cell layer ...

COG5-congenital disorder of glycosylation (COG5-CDG) is a very rare genetic disease. It happens when the COG5 gene does not work properly. This gene helps a ...

COG1 congenital disorder of glycosylation (COG1-CDG) is a very rare inherited disease that affects how the body adds sugar chains (glycans) onto proteins ...

Carbohydrate-deficient glycoprotein syndrome type IIg is now usually called COG1-congenital disorder of glycosylation (COG1-CDG, CDG-IIg). It is an ultra-rare, ...

Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a natural ...

San Joaquin Valley fever is another name for Valley fever, a lung infection caused by a fungus called Coccidioides. A fungus is a tiny living thing, like mold, ...