From HPO
Dysgerminoma- MedGen UID:
- 41680
- •Concept ID:
- C0013377
- •
- Neoplastic Process
The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
Gonadoblastoma- MedGen UID:
- 104912
- •Concept ID:
- C0206661
- •
- Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Gonadal dysgenesis- MedGen UID:
- 9075
- •Concept ID:
- C0018051
- •
- Congenital Abnormality
Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Ambiguous genitalia- MedGen UID:
- 78596
- •Concept ID:
- C0266362
- •
- Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Testicular dysgenesis- MedGen UID:
- 86232
- •Concept ID:
- C0302885
- •
- Finding
Bifid scrotum- MedGen UID:
- 90968
- •Concept ID:
- C0341787
- •
- Congenital Abnormality
Midline indentation or cleft of the scrotum.
Perineal hypospadias- MedGen UID:
- 105292
- •Concept ID:
- C0452148
- •
- Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
Small scrotum- MedGen UID:
- 141577
- •Concept ID:
- C0455792
- •
- Finding
Apparently small scrotum for age.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Ovotestis- MedGen UID:
- 1634511
- •Concept ID:
- C4551490
- •
- Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
- Abnormality of the genitourinary system
- Neoplasm