Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) in the CIDEC gene makes fat cells ...
“Anderson syndrome” in most modern medical books means Andersen–Tawil syndrome, a very rare genetic disease that affects the heart rhythm, the muscles, and the shape of the face, hands, feet, and ...
Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat particles called chylomicrons into the ...
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood after you eat. Because these fat particles ...
Von Hippel-Lindau-dependent polycythemia is a very rare blood disease where the body makes too many red blood cells because of a change (mutation) in the VHL (von Hippel-Lindau) gene. This gene helps ...
Familial polycythemia caused by mutation in the VHL gene is a rare genetic blood disease where a person is born with too many red blood cells because their body “thinks” it is low in oxygen even when ...
Autosomal recessive benign erythrocytosis is a rare inherited blood disease. It means the body makes too many red blood cells from birth or early life. “Autosomal recessive” means a child must get ...
Chuvash polycythemia is a rare blood disease that you are born with. In this condition, the body makes too many red blood cells even when oxygen levels are normal. The extra red blood cells make the ...
Chudley-McCullough syndrome (often shortened to CMS or CMCS) is a very rare genetic condition. It mainly causes strong hearing loss in both ears and special structural changes in the brain that can ...
Chronic myelocytic leukemia (CML) is a cancer of the blood and bone marrow, the soft part inside your bones that makes blood cells. In CML, a change (mutation) in the bone marrow stem cells makes too ...
Chronic multifocal osteomyelitis is a long-lasting inflammation of several bones that comes and goes over time. It usually happens in children and teenagers, and it is not caused by germs such as ...
Chronic mucocutaneous candidiasis (CMC) is a rare immune system disorder where the body cannot properly fight Candida (yeast) infections on the skin, nails, and moist surfaces like the mouth, throat, ...
Chronic candidiasis of the mucosa, skin, and nails is a long-lasting or repeatedly returning yeast infection caused most often by Candida (especially Candida albicans). It mainly affects “surface” ...
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare, long-lasting inflammation of the central nervous system (CNS). It mainly affects ...
Infantile-onset multisystem inflammatory disease is a very rare genetic illness where a baby is born with strong, ongoing inflammation in many parts of the body, such as the skin, joints, brain, ...
Chronic neurologic cutaneous and articular syndrome (CINCA syndrome) is a very rare, life-long inflammatory disease that starts in the newborn period or early infancy. It is caused by a mistake in a ...
Chronic hiccough (also spelled hiccough or singultus) means hiccups that go on for a long time and do not stop in the usual few minutes. Doctors often use the word persistent hiccups when they last ...
Chronic Hiccup is a sudden, quick tightening (spasm) of the breathing muscle under your lungs, called the diaphragm. Right after this spasm, the small opening between your vocal cords closes and ...
Quie syndrome is another name for a disease called chronic granulomatous disease (CGD). In this disease, some white blood cells that fight germs do not work properly. These white blood cells are ...
Congenital dysphagocytosis is an old medical name for a serious inherited immune system disease that doctors now call chronic granulomatous disease (CGD). In this disease, some white blood cells ...
