raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:325706

Genetic 46,XY difference of sex development

Synonyms: Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGenetic 46,XY difference of sex developmentGenetic 46,XY DSD · Genetic 46,XY disorder of sex development
frDifférence du développement sexuel 46,XY d'origine génétique46,XY DSD d'origine génétique · ADS 46,XY d'origine génétique · Anomalie du développement sexuel 46,XY d'origine génétique
deStörung der Geschlechtsentwicklung 46,XY, genetisch bedingte46,XY-DSD, genetische Formen
esDesarrollo sexual diferente 46,XY genéticoDSD 46,XY genético · Trastorno del desarrollo sexual 46,XY genético
itDisturbo genetico dello sviluppo sessuale 46,XYDSD 46,XY genetico
nlGenetische 46,XY-geslachtsontwikkelingsstoornisGenetische 46,XY-DSD
ptDoença do desenvolvimento sexual 46,XY genética
plZaburzenie różnicowania płci z kariotypem 46,XY uwarunkowane genetycznieZRP 46,XY uwarunkowane genetycznie
csGeneticky podmíněné poruchy sexuálního vývoje s karyotypem 46,XYGeneticky podmíněná 46,XY DSD
ukГенетичне порушення статевої диференціації 46,XУГенетичне порушення статевого розвитку 46,XY · Генетичне 46,XY ПСР
zh遗传性46,XY性发育障碍遗传性46,XYDSD
trGenetik 46, XY cinsiyet gelişim bozukluğuGenetik 46,XY DSD
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5679863Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (3):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card