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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Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 499
  • 23 Dec 2020
Topic Review
MBD5 Gene
Methyl-CpG binding domain protein 5
  • 363
  • 23 Dec 2020
Topic Review
Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
  • 509
  • 23 Dec 2020
Topic Review
Laryngo-Onycho-Cutaneous Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous).
  • 284
  • 23 Dec 2020
Topic Review
Lateral Meningocele Syndrome
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
  • 502
  • 23 Dec 2020
Topic Review
Nail-patella Syndrome
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
  • 324
  • 23 Dec 2020
Topic Review
MAPT Gene
Microtubule associated protein tau
  • 446
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type I
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea.
  • 336
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 362
  • 23 Dec 2020
Topic Review
Nager Syndrome
Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
  • 414
  • 23 Dec 2020
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