Congenital enterocyte heparan sulfate deficiency is a very rare, severe, genetic intestinal disease. In this condition, the small bowel lining cells, called enterocytes, do not show normal heparan ...
Congenital ectropion uveae, often shortened to CEU, is a very rare eye condition present from birth. In this condition, the dark pigment layer that normally stays on the back of the iris comes ...
Congenital dyserythropoietic anemia, type III, also called CDA type III, is a very rare inherited blood disease. In this disease, the bone marrow tries to make red blood cells, but many developing ...
Congenital dyserythropoietic anemia, type I, usually called CDA type I, is a rare inherited blood disease. In this disease, the bone marrow tries to make red blood cells, but many of those young red ...
Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital dyserythropoietic anemia type IV ...
Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital dyserythropoietic anemia type IV ...
HEMPAS - Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test is a rare inherited blood disease. Its full old name is hereditary erythroblastic multinuclearity with positive ...
Congenital dyserythropoietic anemia type 2, also called CDA type II, is a rare inherited blood disease. In this disease, the body makes red blood cells in the wrong way. Many young red blood cells in ...
Component of oligomeric Golgi complex 2–congenital disorder of glycosylation is usually called COG2-CDG. It is a very rare inherited metabolic disease. In this disease, both copies of the COG2 gene ...
Congenital disorder of glycosylation, type IIq, is a very rare inherited metabolic disease. It is now also commonly called COG2-CDG because it is caused by harmful changes in the COG2 gene. In simple ...
DPM1-CDG means dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation. It is a very rare inherited metabolic disease. In this condition, the DPM1 gene does ...
Dolichol-phosphate-mannose synthase 1 deficiency is a very rare inherited disease. Doctors also call it DPM1-CDG. It belongs to a group called congenital disorders of glycosylation, or CDG. In this ...
Dol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of glycosylation (CDG). It happens when the body cannot correctly make or use dolichol-phosphate-mannose, a small but ...
Congenital disorder of glycosylation caused by mutation in DPM1 is a very rare inherited metabolic disease. It is usually called DPM1-CDG. In this condition, the body cannot add some sugar parts to ...
Congenital disorder of glycosylation type 1e, also called DPM1-CDG or CDG-Ie, is a very rare inherited metabolic disease. It happens when the DPM1 gene does not work correctly. This gene helps the ...
Congenital disorder of glycosylation, usually called CDG, is a large group of rare inherited metabolic diseases. In these diseases, the body cannot correctly attach sugar chains to proteins and fats. ...
NGLY1-related congenital disorder of deglycosylation is a very rare inherited disease that affects many parts of the body, especially the brain, nerves, eyes, liver, and development. It happens when ...
GUCY2C congenital diarrhea is a very rare inherited bowel disease that usually starts before birth or in the first days or weeks of life. It happens when the GUCY2C gene becomes too active because of ...
Congenital diarrhea caused by mutation in GUCY2C is a very rare inherited bowel disease in which a change in the GUCY2C gene makes the intestine send out too much salt and water into the bowel. This ...
Chronic diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited intestinal disease. It is caused by an overactive GUCY2C gene, which makes the gut receptor called guanylate cyclase ...
