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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Juvenile Primary Lateral Sclerosis
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.
  • 400
  • 23 Dec 2020
Topic Review
Abdominal Wall Defect
An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.
  • 406
  • 04 Feb 2021
Topic Review
LAMA3 Gene
Laminin subunit alpha 3
  • 350
  • 23 Dec 2020
Topic Review
CYBB Gene
Cytochrome B-245 Beta Chain: The CYBB gene provides instructions for making a protein called cytochrome b-245, beta chain (also known as p91-phox).
  • 297
  • 23 Dec 2020
Topic Review
Aarskog-Scott syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.
  • 743
  • 23 Dec 2020
Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 359
  • 23 Dec 2020
Topic Review
LAMA2 Gene
Laminin subunit alpha 2
  • 344
  • 23 Dec 2020
Topic Review
CYBA Gene
Cytochrome B-245 Alpha Chain: The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-phox). 
  • 413
  • 23 Dec 2020
Topic Review
ALG6-congenital Disorder of Glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.
  • 428
  • 23 Dec 2020
Topic Review
L1CAM Gene
L1 cell adhesion molecule
  • 352
  • 23 Dec 2020
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