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Items: 17

1.

Gonadal dysgenesis

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. [from NCI]

MedGen UID:
9075
Concept ID:
C0018051
Congenital Abnormality
2.

Mixed gonadal dysgenesis

A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis. [from NCI]

MedGen UID:
6654
Concept ID:
C0018055
Disease or Syndrome
3.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
4.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
5.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
6.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
7.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
8.

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system. [from HPO]

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
9.

Sex Development Disorder

In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. [from MeSH]

MedGen UID:
20725
Concept ID:
C0036875
Congenital Abnormality
10.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
11.

Pseudohermaphroditism

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. [from NCI]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
12.

Gonadal Disorder

A non-neoplastic or neoplastic disorder that affects the testis or the ovary. [from NCI]

MedGen UID:
9074
Concept ID:
C0018050
Disease or Syndrome
13.

Hermaphroditism

An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia. [from MeSH]

MedGen UID:
6815
Concept ID:
C0019269
Disease or Syndrome
14.

Disorder of endocrine system

A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. [from NCI]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
15.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
16.

Aplasia of testicle

MedGen UID:
817980
Concept ID:
C3812404
Congenital Abnormality
17.

Mixed developmental disorder

MedGen UID:
751732
Concept ID:
C2711967
Mental or Behavioral Dysfunction
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