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Items: 1 to 20 of 25

1.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
2.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
3.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Organic Chemical; Pharmacologic Substance
4.

D-Hanks solution

MedGen UID:
828345
Concept ID:
C3851251
Organic Chemical; Pharmacologic Substance
5.

46,XY sex reversal, type 3

Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo.Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.
[from GHR]

MedGen UID:
414114
Concept ID:
C2751824
Disease or Syndrome
6.

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
7.

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
8.

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
9.

Abnormality of the genitourinary system

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

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
10.

Euro-Collins solution

MedGen UID:
30059
Concept ID:
C0059905
Pharmacologic Substance
11.

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
12.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
13.

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
14.

Gonadal dysgenesis

MedGen UID:
9075
Concept ID:
C0018051
Congenital Abnormality
15.

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
16.

General drug type

A drug product that contains one or more active and/or inactive ingredients; it is intended to treat, prevent or alleviate the symptoms of disease. This term does not refer to the individual ingredients that make up the product. [from NCI]

MedGen UID:
8496
Concept ID:
C0013227
Pharmacologic Substance
17.

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
18.

Gonadal dysgenesis, male

MedGen UID:
5361
Concept ID:
C0018054
Disease or Syndrome
19.

Disorder of endocrine system

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
20.

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
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