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.

Expand All
Entries
Topic Review
Silver Syndrome
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias.
  • 415
  • 25 Dec 2020
Topic Review
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males.
  • 533
  • 25 Dec 2020
Topic Review
Sitosterolemia
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues.
  • 547
  • 25 Dec 2020
Topic Review
Sjögren Syndrome
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but it can occur at any age.
  • 458
  • 25 Dec 2020
Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 354
  • 25 Dec 2020
Topic Review
Small Fiber Neuropathy
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands.
  • 646
  • 25 Dec 2020
Topic Review
Smith-Kingsmore Syndrome
Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly), intellectual disability, and seizures.
  • 648
  • 25 Dec 2020
Topic Review
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.
  • 499
  • 25 Dec 2020
Topic Review
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body.
  • 502
  • 25 Dec 2020
Topic Review
PAX3 Gene
paired box 3
  • 590
  • 25 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>