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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Yao Syndrome
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
  • 1.0K
  • 24 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 316
  • 24 Dec 2020
Topic Review
SERPINA6 Gene
serpin family A member 6
  • 353
  • 24 Dec 2020
Topic Review
ECM1 Gene
Extracellular matrix protein 1
  • 906
  • 24 Dec 2020
Topic Review
Y Chromosome Infertility
Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children.
  • 514
  • 24 Dec 2020
Topic Review
SCN8A-Related Epilepsy with Encephalopathy
SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.
  • 350
  • 24 Dec 2020
Topic Review
Xia-Gibbs Syndrome
Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development.
  • 959
  • 24 Dec 2020
Topic Review
SERPINA1 Gene
serpin family A member 1
  • 449
  • 24 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 439
  • 24 Dec 2020
Topic Review
EBP Gene
EBP, cholestenol delta-isomerase
  • 415
  • 24 Dec 2020
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