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Items: 8

1.

Hypospadias

A birth defect in which the opening of the urethra (the tube through which urine leaves the body) is not in its normal place. In males with hypospadias, the urethra opens on the underside of the penis or between the anus and the scrotum. In females with hypospadias, it opens into the vagina. Hypospadias is much more common in males than in females, and can be corrected by surgery. Children with hypospadias have an increased risk of developing Wilms tumor (a type of kidney cancer). [from NCI]

MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
2.

Hypospadias

Displacement of the urethral opening on the ventral (inferior) surface of the penis. [from HPO]

MedGen UID:
504317
Concept ID:
CN000047
Finding
3.

Cryptorchidism

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 testis. [from HPO]

MedGen UID:
504309
Concept ID:
CN000029
Finding
4.

Spastic paraplegia epilepsy mental retardation

MedGen UID:
356631
Concept ID:
C1866854
Disease or Syndrome
5.

Malignant tumor of testis

Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell Tumors A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27. [from OMIM]

MedGen UID:
56313
Concept ID:
C0153594
Neoplastic Process
6.

Multiple endocrine neoplasia

An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
7.

Cryptorchidism, unilateral or bilateral

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [from OMIM]

MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
8.

Decreased fertility in males

MedGen UID:
489582
Concept ID:
CN167767
Finding
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