Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 36

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
Disease or Syndrome
2.

Idiopathic short stature

Height greater than two standard deviations below the mean for the age and sex of the reference population. [from NCI]

MedGen UID:
853465
Concept ID:
C1740819
Finding
3.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
4.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
5.

Height / growth measure

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

MedGen UID:
452503
Concept ID:
C0424639
Finding
6.

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
7.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
8.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
9.

Growth failure

Less than normal linear growth in an infant or child. [from NCI]

MedGen UID:
163904
Concept ID:
C0878787
Disease or Syndrome
10.

Short stature

Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. [from NCI]

MedGen UID:
87607
Concept ID:
C0349588
Finding
11.

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_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
12.

Not detected

The presence of the specified component / analyte, organism or clinical sign could not be determined within the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617736
Concept ID:
C0442737
Finding
13.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
14.

Normal height

MedGen UID:
108452
Concept ID:
C0587053
Finding
15.

Growth retardation

Stature that is smaller than normal as expected for age. [from NCI]

MedGen UID:
56240
Concept ID:
C0151686
Pathologic Function
16.

Sex Chromosome Disorders of Sex Development

Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM. [from MeSH]

MedGen UID:
423530
Concept ID:
C2936421
Congenital Abnormality
17.

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
18.

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
19.

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
20.

Sex-linked hereditary disorder

Disorders occurring in either sex and which are transmitted by genes in the sex chromosomes. [from PSY]

MedGen UID:
183658
Concept ID:
C0949683
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center