From HPO
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.
Clitoral hypertrophy- MedGen UID:
- 57848
- •Concept ID:
- C0156394
- •
- Finding
Hypertrophy of the clitoris.
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
Penoscrotal hypospadias- MedGen UID:
- 105291
- •Concept ID:
- C0452147
- •
- Congenital Abnormality
A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.
Retractile testis- MedGen UID:
- 636075
- •Concept ID:
- C0520578
- •
- Congenital Abnormality
A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.
Fused labia majora- MedGen UID:
- 1383259
- •Concept ID:
- C4476806
- •
- Anatomical Abnormality
The outer labia are sealed together.
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