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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Lysinuric Protein Intolerance
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.
  • 412
  • 24 Dec 2020
Topic Review
Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism).
  • 296
  • 24 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 489
  • 24 Dec 2020
Topic Review
MBD5-Associated Neurodevelopmental Disorder
MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.
  • 1.0K
  • 24 Dec 2020
Topic Review
MDA5 Deficiency
MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy.
  • 573
  • 24 Dec 2020
Topic Review
MECP2 Duplication Syndrome
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.
  • 313
  • 24 Dec 2020
Topic Review
MECP2-Related Severe Neonatal Encephalopathy
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy).
  • 435
  • 24 Dec 2020
Topic Review
MED13L Syndrome
MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).
  • 1.5K
  • 24 Dec 2020
Topic Review
RET Gene
ret proto-oncogene
  • 439
  • 23 Dec 2020
Topic Review
REN Gene
renin
  • 353
  • 23 Dec 2020
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