21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol ...

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disease that affects the adrenal glands, which are small organs that ...

Autosomal dominant intellectual disability 49 is a very rare genetic brain-development problem. It is also called Clark-Baraitser syndrome and is caused by a ...

Clark-Baraitser syndrome (often shortened to CLABARS) is a very rare genetic condition that affects how a child’s brain, body growth, and face develop. ...

CLAPO syndrome is a very rare health condition that mostly affects the skin, blood vessels, lymph vessels, and the growth of some body parts. The name “CLAPO” ...

X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome is a very rare genetic disease that mainly affects boys. Doctors also ...

CK syndrome is a very rare genetic brain and body disorder that mainly affects boys and starts in early life. It is an X-linked recessive condition, which ...

Adult-onset citrin deficiency is a rare, lifelong genetic disease that mainly affects the liver and the brain. In this condition, a gene called SLC25A13 does ...

Citrullinemia type II is a rare inherited disease in which the liver cannot use a substance called citrin properly, so ammonia and some amino acids build up in ...

Argininosuccinate synthetase deficiency (ASS1 deficiency) is a rare, inherited disease of the urea cycle. The urea cycle is the process in the liver that ...

Argininosuccinate synthase 1–gene related citrullinemia type I is a rare, serious genetic disease of the urea cycle. In this disease the ASS1 gene does not ...

Citrullinemia type I is a rare inherited disease of the urea cycle, which is the process in the liver that removes extra nitrogen from the body. In this ...

Dystonia-parkinsonism-hypermanganesemia-polycythemia and chronic liver disease is a very rare inherited disease. In this condition, a gene called SLC30A10 does ...

Cirrhosis–dystonia–polycythemia–hypermanganesemia syndrome is a very rare genetic disease where the body cannot properly remove extra manganese, a metal that ...

Ciliary dyskinesia with transposition of ciliary microtubules is a rare genetic problem that affects tiny hair-like structures in the body called cilia. Cilia ...

Familial partial lipodystrophy type 5 (FPLD5) is a very rare genetic disease where fat under the skin (subcutaneous fat) is lost from some parts of the body ...

Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) ...

“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 ...

Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat ...

Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood ...