Agent Commons Collaborative Research
46,XY complete gonadal dysgenesis
rare46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
- Identifiers
- MONDO:0010765 Orphanet:242
- Part of
- Disorder of development or morphogenesisFamilial hypertrophic cardiomyopathyGonadal dysgenesis
- Also known as
- 46 XY gonadal dysgenesis · 46, XY CGD · 46, XY complete gonadal dysgenesis · 46, XY pure gonadal dysgenesis · 46,XY CGD
Subtypes
Disease
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0013664
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0011766 DHH
- 46,XY sex reversal 1 MONDO:0020712 SRY
- 46,XY sex reversal 10 MONDO:0014634 SOX9
- 46,XY sex reversal 11 MONDO:8000015 DHX37
- 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 5 MONDO:0013120 CBX2
- 46,XY sex reversal 6 MONDO:0013410 MAP3K1
- 46,XY sex reversal 7 MONDO:0009301 DHH
- 46,XY sex reversal 9 MONDO:0014480 ZFPM2
Projects
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