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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"
46,XX ovarian dysgenesis-short stature syndrome
46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis
46,XY complete gonadal dysgenesis
46,XY CGD · 46,XY pure gonadal dysgenesis
46,XY partial gonadal dysgenesis
46,XY PGD · 46,XY partial testicular dysgenesis
Ovarian dysgerminoma
Dysgerminoma of ovary · Dysgerminomatous germ cell cancer of the ovary