Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 566
  • 24 Dec 2020
Topic Review
Chromosome 2
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 2, one copy inherited from each parent, form one of the pairs.
  • 449
  • 24 Dec 2020
Topic Review
Congenital Hypothyroidism
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
  • 660
  • 07 Apr 2023
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 281
  • 24 Dec 2020
Topic Review
Baraitser-Winter Syndrome
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
  • 818
  • 24 Dec 2020
Topic Review
Congenital Hyperinsulinism
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
  • 343
  • 24 Dec 2020
Topic Review
Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.
  • 563
  • 24 Dec 2020
Topic Review
Baller-Gerold Syndrome
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.
  • 475
  • 24 Dec 2020
Topic Review
Congenital Hepatic Fibrosis
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated.
  • 325
  • 24 Dec 2020
Topic Review
BAP1 Tumor Predisposition Syndrome
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
  • 380
  • 24 Dec 2020
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