Congenital Chronic Diarrhea with Exudative Enteropathy
Congenital chronic diarrhea with exudative enteropathy is a rare inherited early-life intestinal disease in which the gut does not handle nutrients, fluids, and proteins normally, so...
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Congenital chronic diarrhea with exudative enteropathy is a rare inherited early-life intestinal disease in which the gut does not handle nutrients, fluids, and proteins normally, so...
Congenital diarrhea 7 with exudative enteropathy is a very rare inherited intestinal disease. It usually starts in the newborn period or early infancy. The baby has...
Congenital chylothorax means a baby is born with chyle collecting in the space around the lungs, called the pleural space. Chyle is a lymph fluid that...
Congenital cerebellar ataxia due to RNU12 mutation is a very rare inherited brain disorder. It starts very early in life, often in infancy, and mainly affects...
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is a very rare genetic disorder. It starts early in life. A baby may be born with cataracts in...
Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid is a very rare inherited bile acid synthesis disorder. It is now usually called congenital...
CYP7B1 oxysterol 7-alpha-hydroxylase deficiency is a very rare inherited disease. It happens when both copies of the CYP7B1 gene do not work properly. This gene normally...
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 properly do one important step...
3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this condition, the liver cannot make...
Congenital axonal neuropathy with encephalopathy is a very rare inherited nerve disease that starts at birth or very soon after birth. “Congenital” means present from birth....
XY sex reversal–adrenal failure syndrome is a very rare genetic disease where a baby has male chromosomes (46,XY) but the body does not develop typical male...
Congenital adrenal insufficiency with 46,XY sex reversal (also called 46,XY disorder of sex development with adrenal insufficiency due to CYP11A1 deficiency) is a rare genetic disease....