Phenotypes associated with the disease Gonadoblastoma (ORPHA:206484):
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206484)
- Abnormality of the ovary (HP:0000137): An abnormality of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206484)
- Ovarian gonadoblastoma (HP:0000149): The presence of a gonadoblastoma of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206484)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206484)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206484)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206484)
- Female external genitalia in individual with 46,XY karyotype (HP:0008730): The presence of female external genitalia in a person with a male karyotype. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206484)
- Gonadal dysgenesis with female appearance, male (HP:0008723): Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206484)
- Gonadal calcification (HP:0008703): Deposition of calcium salts in gonadal tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206484)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206484)
- Dysgerminoma (HP:0100621): The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206484)