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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.

Somatotropin preparation

A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. [from MeSH]

MedGen UID:
20836
Concept ID:
C0037663
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
3.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
5.

Interlabial Escape; No Progression to Anterior Lip

A finding of interlabial escape during swallowing, but no progression to anterior lip. [from NCI]

MedGen UID:
926412
Concept ID:
C4288880
Finding
6.

KTS; Vascular overgrowth

MedGen UID:
851801
Concept ID:
CN233165
Finding
7.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
8.

Mosaicism 45, X; 46, XX

MedGen UID:
609532
Concept ID:
C0432465
Disease or Syndrome
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
11.

Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
335382
Concept ID:
C1846288
Finding
12.

Growth hormone deficiency

Abnormally low levels of circulating somatotropin. [from NCI]

MedGen UID:
82880
Concept ID:
C0271561
Disease or Syndrome
13.

Mental deficiency

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
14.

Decreased antibody level in blood

A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. [from NCI]

MedGen UID:
88568
Concept ID:
C0086438
Disease or Syndrome
15.

Jaundice

A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction. [from MeSH]

MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
16.

Glucose

A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [from MeSH]

MedGen UID:
42238
Concept ID:
C0017725
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
17.

Prolonged neonatal jaundice

Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. [from NCI]

MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
18.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
19.

Prolonged

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
20.

Mosaicism

The presence of more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

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