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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 GTR]

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

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
3.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
4.

Height / growth measure

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

MedGen UID:
452503
Concept ID:
C0424639
Finding
5.

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 GTR]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality
6.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
7.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
8.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \ [from HPO]

MedGen UID:
87607
Concept ID:
C0349588
Finding
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.

Madelung deformity

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [from HPO]

MedGen UID:
57537
Concept ID:
C0152441
Congenital Abnormality
11.

Syndrome

A characteristic symptom complex. [from MeSH]

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

dysmorphic

MedGen UID:
893259
Concept ID:
CN238735
Finding
13.

Renal abnormalities

MedGen UID:
852379
Concept ID:
CN235079
Finding
14.

Ovarian failure

The inability of the ovaries to function. [from NCI]

MedGen UID:
677092
Concept ID:
C0747102
Disease or Syndrome
15.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
16.

Madelung deformity

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [from HPO]

MedGen UID:
505441
Concept ID:
CN002765
Finding
17.

Cubitus valgus

Abnormal positioning in which the elbows are turned out. [from HPO]

MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
18.

Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. [from HPO]

MedGen UID:
323064
Concept ID:
C1837084
Finding
19.

Deformity

An anatomic abnormality that is either present at birth or appears later in life. [from NCI]

MedGen UID:
90143
Concept ID:
C0302142
Anatomical Abnormality
20.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
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