Disease Directory

3q26 microduplication syndrome is a rare chromosomal anomaly. This condition involves a small duplicated segment on the long arm (q arm) of chromosome...

Information about overview is currently limited for this condition.

3q27.3 microdeletion syndrome is a rare chromosomal condition caused by the partial deletion of the long arm of chromosome 3. This alteration in the g...

4-hydroxyphenylacetic aciduria is a rare disease. Detailed information about this condition is currently limited in medical literature.

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a rare condition that affects the development of the gonads, which are the organs that produce...

46 XX gonadal dysgenesis is a condition characterized by primary ovarian failure resulting from defective gonadal development or resistance to gonadot...

46,XX disorder of sex development refers to conditions where individuals with a 46,XX karyotype experience atypical development of their gonads, inter...

46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect that occurs during embryogenesis. In people with this co...

46,XX disorder of sex development-skeletal anomalies syndrome is a rare condition that affects sex development and skeletal formation. It is also know...

46,XX ovarian dysgenesis-short stature syndrome, also known as ovarian dysgenesis type 4 or ODG4, is a rare condition that affects people with two X c...

46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is a condition where individuals with a 46,XX karyotype have both ovarian an...

46,XX sex reversal 1 is a rare condition in which individuals with an XX chromosome pattern may develop a mix of reproductive tissues. The condition i...

46,XX sex reversal 2 is a rare condition that affects how sex characteristics develop. It is also known by names such as 46,XX Sex reversal type 2, SR...

46,XX sex reversal 3 is a rare genetic condition that affects sexual development in people with a typical 46,XX chromosome pattern. This condition has...

46,XX sex reversal 4 is a rare condition where individuals with two X chromosomes may exhibit differences in the expected development of sexual charac...

46,XX testicular disorder of sex development is a rare condition where people have male external genitalia. In many cases, the external appearance can...

46,XX true hermaphroditism, SRY-positive is a rare disease. Detailed information about this condition is currently limited in medical literature.

46,XY complete gonadal dysgenesis, sometimes known as Swyer syndrome, is a disorder of sex development (DSD). In this condition, people have a typical...

46,XY disorder of sex development refers to differences of sex development in individuals with a 46,XY karyotype. This term is used to describe variou...

This condition is a rare disorder that affects people with a 46,XY karyotype. It is caused by a decrease in the activity of the enzyme 17-beta-hydroxy...