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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Chromosome 7
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs.
  • 457
  • 24 Dec 2020
Topic Review
Boomerang Dysplasia
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
  • 443
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 437
  • 24 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 342
  • 24 Dec 2020
Topic Review
Bohring-Opitz Syndrome
Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.
  • 495
  • 24 Dec 2020
Topic Review
BRCA2 Gene
BRCA2, DNA repair associated
  • 375
  • 24 Dec 2020
Topic Review
Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
  • 621
  • 24 Dec 2020
Topic Review
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
  • 406
  • 24 Dec 2020
Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 437
  • 24 Dec 2020
Topic Review
Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
  • 801
  • 24 Dec 2020
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