Combined immunodeficiency due to CRAC channel dysfunction is a very rare inherited immune disease. In this condition, tiny calcium channels called CRAC ...

SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive is a very rare primary immune system disease. Doctors also call it ...

Immunodeficiency type 17 is a rare disease where part of the immune system does not work properly from birth. In this condition, a gene called CD3G is changed ...

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 ...

Galactosialidosis is a very rare genetic disease in which the “recycling centres” inside cells, called lysosomes, do not work properly. In healthy people, ...

Combined deficiency of sialidase and beta-galactosidase is a rare inherited disease where two important “clean-up” enzymes inside the cell do not work ...

Familial multiple coagulation factor deficiency is a group of rare inherited bleeding disorders where a person has low levels of two or more blood-clotting ...

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 tick fever is another name for a disease called Colorado tick fever. It is a rare sickness caused by a virus that lives inside certain ...

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 ...

Elbow valgus deformity means the forearm points too far away from the body when the elbow is straight. Doctors also call this cubitus valgus. A small “outward” ...

Varus flexion deformity means that a joint is bent in two ways at the same time.“Varus” means the lower part of the leg (or bone) points inward, so the ...

Varus elbow deformity means that the elbow is bent inward, so the forearm points toward the middle of the body instead of slightly away from it when the arm is ...

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 ...

Primary chronic pseudo-obstruction of the colon is a long-lasting disease where the large bowel (colon) behaves as if it is blocked, but no real physical ...

Colonic pseudo-obstruction is a problem where the large intestine (colon) becomes very big and full, like there is a blockage, but doctors cannot find any ...

Chorioretinopathy syndrome is a general name for eye diseases that damage both the retina (the light-sensing layer) and the choroid (the blood-vessel layer ...

Macular atrophy-chorioretinopathy syndrome is a very rare eye disease present from birth. In this disease the back part of the eye (the retina) and the layer ...