Phenotypes associated with the disease Diethylstilbestrol syndrome (ORPHA:1916):
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Abnormal testis morphology (HP:0000035): An anomaly of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Hypospadias (HP:0000047): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1916)
- Micropenis (HP:0000054): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Decreased fertility in females (HP:0000868). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1916)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Central apnea (HP:0002871): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1916)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Dysplastic testis (HP:0008733): A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Abnormal reproductive system morphology (HP:0012243): A structural or developmental anomaly of any of the tissues involved in the genital system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Epididymal cyst (HP:0030424): A smooth, extratesticular, spherical cyst in the head of the epididymis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Preeclampsia (HP:0100602): Pregnancy-induced hypertension in association with significant amounts of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)
- Vaginal neoplasm (HP:0100650): A tumor (abnormal growth of tissue) of the vagina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1916)