Congenital bile acid synthesis defect 3, also called CBAS3 or oxysterol 7 alpha-hydroxylase deficiency, is a very rare inherited liver disease caused by ...

3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1 is a very rare inherited disease of bile acid making. It happens when the body cannot ...

Congenital bile acid synthesis defect 1 is a rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way. Bile acids ...

Large intestinal atresia means a baby is born with a part of the large intestine closed, blocked, missing inside, or completely separated, so stool and gas ...

Colonic atresia is a rare birth condition in which part of the colon does not form as an open tube, so stool and gas cannot pass normally. A baby is usually ...

Atresia of the large intestine means a baby is born with part of the large bowel closed, missing, or not connected in the normal way. The large intestine is ...

Congenital atresia of colon means a baby is born with a part of the large intestine, also called the colon, closed, blocked, missing inside, or not joined in a ...

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 ...

Cocoon syndrome usually means abdominal cocoon syndrome, also called sclerosing encapsulating peritonitis or encapsulating peritoneal sclerosis. In this ...

Joubert syndrome with hepatic defect is a very rare, genetic disease. It mainly affects the brain and the liver. In this condition, the part of the brain ...

Joubert syndrome with congenital hepatic fibrosis is a rare genetic condition that affects both the brain and the liver at the same time. In this condition, ...

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

Familial polyposis coli is a rare inherited disease of the large intestine (colon) and rectum. In this disease, hundreds or even thousands of small growths ...

Familial multiple polyposis syndrome is another name for familial adenomatous polyposis (FAP). It is a rare, inherited disease where a person grows many small ...

Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of ...

Chyloperitoneum means that lymph fluid called chyle leaks into the space inside the belly (the peritoneal cavity). This chyle is milky and rich in fat ...

Chylous ascites is a rare type of fluid build-up in the belly (abdomen). In this condition, a milky fluid called chyle leaks into the space around the ...

Chronic intestinal pseudo-obstruction (CIPO) is a rare long-term disease where the intestine looks and behaves like it is blocked, but doctors cannot find any ...

Kernicterus spectrum disorder is part of a group of problems caused by very high levels of bilirubin hurting a baby’s brain. Doctors and researchers use ...