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, male- MedGen UID:
- 5361
- •Concept ID:
- C0018054
- •
- Disease or Syndrome
Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Streak ovary- MedGen UID:
- 78597
- •Concept ID:
- C0266371
- •
- Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Hypoplasia of the fallopian tube- MedGen UID:
- 409653
- •Concept ID:
- C1968706
- •
- Finding
Developmental hypoplasia of the fallopian tube.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Abnormal epididymis morphology- MedGen UID:
- 869792
- •Concept ID:
- C4024222
- •
- Anatomical Abnormality
An abnormality of the epididymis.
- Abnormality of the genitourinary system
- Neoplasm