X-Linked Moesin-Associated Immunodeficiency
X-linked moesin-associated immunodeficiency (often shortened to X-MAID) is a very rare, inherited immune system disease. In this condition, a change (mutation) in a gene called MSN...
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X-linked moesin-associated immunodeficiency (often shortened to X-MAID) is a very rare, inherited immune system disease. In this condition, a change (mutation) in a gene called MSN...
Combined immunodeficiency due to GINS complex subunit 1 deficiency is a very rare, inherited immune system disease. In this condition, a gene called GINS1 does not...
Varus flexion deformity means that a joint is bent in two ways at the same time.“Varus” means the lower part of the leg (or bone) points...
Component of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how the body adds...
Component of oligomeric Golgi complex 7 congenital disorder of glycosylation (COG7-CDG) is a very rare genetic disease that affects how the body adds sugar chains to...
Component of oligomeric Golgi complex 6–congenital disorder of glycosylation (short name COG6-CDG) is a very rare genetic disease that affects how sugar chains are added to...
Component of oligomeric Golgi complex 5 congenital disorder of glycosylation (COG5-CDG) is a very rare inherited disease. It belongs to a group of conditions called congenital...
Component of oligomeric Golgi complex 4 congenital disorder of glycosylation (COG4-CDG) is a very rare inherited metabolic disease. It happens when the COG4 gene does not...
Component of oligomeric Golgi complex 1 congenital disorder of glycosylation (often shortened to COG1-CDG) is an extremely rare inherited disease in which the body cannot add...
X-linked dominant Coffin-Lowry syndrome is a rare genetic condition that affects how the brain, bones, and other body systems grow and work. It is present from...
Primary extrapulmonary coccidioidomycosis is an infection caused by a fungus called Coccidioides that shows itself first outside the lungs, such as in the skin, bones, joints,...
Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called COACH syndrome. The word COACH is...