Directory
Ulcerative colitis
Ulcerative colitis (UC) is a chronic inflammatory bowel disease characterized by damage to the mucous membrane of the colon...
15q11.2 Microdeletion
15q11.2 microdeletion is a chromosomal abnormality associated with the loss of a small fragment of chromosome 15 on the long arm in region 1...
46XX Testicular disorder of sexual development
Testicular disorder of sexual development, known as 46XX, is a group of androgen deficiency disorders that are rare...
47 XYY Syndrome
XYY syndrome, also known as "superman syndrome," is a chromosomal disorder in which males have an extra...
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase (3-Hydroxy-3-methylglutaryl-CoA lyase) deficiency is a rare but serious metabolic disorder caused by a lack of...
5-alpha reductase deficiency
5-alpha-reductase deficiency is a rare genetic disorder associated with impaired androgen metabolism, particularly testosterone...
3MC Syndrome
3MC syndrome (full name - 3M syndrome) is a rare genetic disorder characterized by specific disorders in the development of...
3M Syndrome
3M syndrome, also known as microcephaly, macrognathia, and mesodermal insufficiency syndrome, is a rare genetic disorder that occurs when a child is born with...
1p36 deletion syndrome
1p36 deletion syndrome is a rare genetic disorder caused by microdeletions in a region of chromosome 1 on the short f...
2q37 deletion syndrome
2q37 deletion syndrome is a rare genetic disorder characterized by the loss of a fragment of chromosome 2 on the long arm in the region ...
3p deletion syndrome
3p deletion syndrome, also known as Christenson syndrome, is a rare genetic disorder caused by the loss of ...
