DISEASES

Disease-gene associations mined from literature

Human genes for mixed gonadal dysgenesis

Mixed gonadal dysgenesis [DOID:14449]

Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45,X/ 46, XY. If Turner syndrome is defined as a condition where one sex chromosome is absent or abnormal, mixed gonadal dysgenesis may be interpreted as a specific variation of Turner’s. The phenotypical expression may be ambiguous, intersex, or male, or female pending the extent of the mosaicism.

Synonyms:  mixed gonadal dysgenesis,  DOID:14449,  mixed gonadal dysgenesis (disorder),  mixed gonadal dysgenesis disorder,  mixed gonadal dysgenesis