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1.

Turner syndrome

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
[from GHR]

MedGen UID:
21734
Concept ID:
C0041408
Congenital Abnormality; Disease or Syndrome
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

KTS; Vascular overgrowth

MedGen UID:
851801
Concept ID:
CN233165
Finding
4.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
5.

Turner phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY

MedGen UID:
640855
Concept ID:
C0555251
Congenital Abnormality; Disease or Syndrome
6.

Mosaicism 45, X; 46, XX

MedGen UID:
609532
Concept ID:
C0432465
Congenital Abnormality; Disease or Syndrome
7.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
8.

Mosaicism

The occurrence of 2 or more cell lines with different genetic or chromosomal make-up, within a single individual or tissue. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
9.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
10.

Delayed Puberty

The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not. [from MeSH]

MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
11.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
12.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
13.

Delayed female puberty

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. [from HPO]

MedGen UID:
543451
Concept ID:
C0271618
Disease or Syndrome; Pathologic Function
14.

Height / growth measure

The height of a person while standing. [from NCI]

MedGen UID:
452503
Concept ID:
C0424639
Finding
15.

Short stature, idiopathic, X-linked

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality; Disease or Syndrome
16.

Delayed puberty

MedGen UID:
373889
Concept ID:
C1838105
Finding
17.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
18.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
19.

Nondisjunction

Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction. [from OMIM]

MedGen UID:
320427
Concept ID:
C1834741
Disease or Syndrome
20.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
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