Agent Commons Collaborative Research
46,XY partial gonadal dysgenesis
rare46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
- Identifiers
- MONDO:0016674 Orphanet:251510
- Also known as
- 46,XY partial testicular dysgenesis · 46,XY PGD
Subtypes
Disease
- 46,XY sex reversal 10 MONDO:0014634 SOX9
- 46,XY sex reversal 2 MONDO:0010226 NR0B1
- 46,XY sex reversal 3 MONDO:0013066
- 46,XY sex reversal 4 MONDO:0007938
- 46,XY sex reversal 6 MONDO:0013410 MAP3K1
- 46,XY sex reversal 9 MONDO:0014480 ZFPM2
- Testicular anomalies with or without congenital heart disease MONDO:0014239 GATA4
Projects
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