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Items: 6

1.

Beta-cell dysfunction

MedGen UID:
370119
Concept ID:
C1969875
Finding
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Glucose intolerance

A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION. [from MeSH]

MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
4.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
5.

Wolfram-like syndrome, autosomal dominant

Autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008). Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290). [from OMIM]

MedGen UID:
387788
Concept ID:
C1857286
Disease or Syndrome
6.

Reduced pancreatic beta cells

Reduced number of beta cells in the pancreatic islets of Langerhans. [from HPO]

MedGen UID:
341644
Concept ID:
C1856904
Finding
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