Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

46,XX gonadal dysgenesis

46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis

ORPHA:243

45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY MGD · 45,X0/46,XY MGD

ORPHA:1772

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

ORPHA:242

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

ORPHA:251510

Gonadal dysgenesis of gynecological interest

ORPHA:98074

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

ORPHA:2855

Rare female infertility due to gonadal dysgenesis

Rare female infertility due to ovarian dysgenesis

ORPHA:399877