Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated genes and diseases:
gene_symbol: HSD17B3
disease_id: ORPHA:752
disease_name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: NR2F2
disease_id: OMIM:618901
disease_name: 46,XX SEX REVERSAL 5
gene_symbol: SOX9
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SRY
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: DHX37
disease_id: OMIM:273250
disease_name: 46,XY SEX REVERSAL 11
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MKKS
disease_id: ORPHA:2473
disease_name: McKusick-Kaufman syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: SRD5A2
disease_id: ORPHA:753
disease_name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
46,XY DSD due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias
Steroid 5-alpha-reductase 2 deficiency