raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:325118

46,XY disorder of gonadal 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
en46,XY disorder of gonadal development
frAnomalie du développement des gonades 46,XY
de46,XY Störung der Gonadenentwicklung
esAnomalía del desarrollo gonadal 46,XYTrastorno del desarrollo gonadal 46,XY
itDisturbo dello sviluppo gonadico 46,XY
nl46,XY stoornis van gonadale ontwikkeling
ptAlteração 46, XY do desenvolvimento gonadal
plZaburzenie rozwoju gonad z kariotypem 46,XY
csPorucha pohlavního vývoje s karyotypem 46,XY
uk46,XY порушення розвитку гонад
zh46,XY性腺发育障碍
tr46, XY gonadal gelişim bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO17966Evalidated
UMLSC5680949Evalidated

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 (2):

Children (5):

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