Disease Directory

This condition is a rare disorder of sex development where there is a difficulty in converting testosterone into dihydrotestosterone (DHT). This probl...

Information about overview is currently limited for this condition.

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare condition that involves issues with sexual development and nerve function. In...

46,XY ovotesticular disorder of sex development is a rare condition in which people have both ovarian and testicular tissue. In many cases, one or bot...

46,XY partial gonadal dysgenesis is a disorder of sex development characterized by atypical gonadal formation leading to ambiguous genitalia in indivi...

46,XY sex reversal 1 is a rare condition that is recognized by several names, including 46,XY gonadal dysgenesis, complete, SRY-related, and 46,XY tru...

46,XY sex reversal 10 is a rare condition affecting sex development in people with a typical 46,XY chromosome pattern. It is also known by several nam...

46,XY sex reversal 11 is a condition where individuals with a typical male (46,XY) chromosome pattern develop complete gonadal dysgenesis. This means...

46,XY sex reversal 2 is a rare condition that affects sexual development. People with this condition typically have a 46,XY karyotype, which usually i...

46,XY sex reversal 3 is a rare condition that affects the development of sexual characteristics in people with XY chromosomes. It is also known by sev...

46,XY sex reversal 4 is a rare condition where individuals with a 46,XY karyotype experience differences in sexual development. This condition is defi...

46,XY sex reversal 5 is a rare condition where individuals with a typically male (XY) chromosome pattern may experience differences in sexual developm...

46,XY sex reversal 6 is a rare condition that affects sexual development. People with this condition have chromosomes that are typically associated wi...

46,XY sex reversal 7 is a rare condition that affects the development of the gonads in people with a typical male (XY) chromosomal pattern. The condit...

46,XY sex reversal 9 is a rare condition that affects sexual development in people with a typical male (46,XY) genetic makeup. Alterations related to...

47, XYY syndrome is a genetic condition where males have an extra Y chromosome. This extra chromosome leads to a form of sex chromosome aneuploidy. Th...

48,XXXY syndrome is a genetic condition where males have two extra X chromosomes, making it an aneuploidy. This extra genetic material can affect deve...

48,XXYY syndrome is a chromosomal condition that affects males. This condition is caused by an extra X and Y chromosome, which is an example of aneupl...

48,XYYY syndrome is a rare genetic condition that affects males. It is caused by an anomaly in the number of Y chromosomes. People with this condition...

49,XXXXY syndrome is a rare chromosomal anomaly that affects males. It is characterized by the presence of three extra X chromosomes, which is an exam...