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
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
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.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Exaggerated rugosity of the labia majora- MedGen UID:
- 927583
- •Concept ID:
- C4293674
- •
- Anatomical Abnormality
Marked rugae formation of the skin of the labia majora.
Elevated circulating follicle stimulating hormone level- MedGen UID:
- 867192
- •Concept ID:
- C4021550
- •
- Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level- MedGen UID:
- 868698
- •Concept ID:
- C4023101
- •
- Finding
An elevated concentration of luteinizing hormone in the blood.
- Abnormality of the endocrine system
- Abnormality of the genitourinary system