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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Entries
Topic Review
Ring Chromosome 14 Syndrome
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability.
  • 426
  • 24 Dec 2020
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 408
  • 24 Dec 2020
Topic Review
Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body.
  • 308
  • 24 Dec 2020
Topic Review
CHARGE Syndrome
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.
  • 426
  • 24 Dec 2020
Topic Review
NPHS1 Gene
NPHS1, nephrin
  • 352
  • 24 Dec 2020
Topic Review
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
  • 389
  • 24 Dec 2020
Topic Review
Craniofrontonasal Syndrome
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).
  • 479
  • 24 Dec 2020
Topic Review
NPHP1 Gene
nephrocystin 1
  • 372
  • 24 Dec 2020
Topic Review
Parkinson Disease
Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
  • 775
  • 06 Sep 2023
Topic Review
CACNA1S Gene
calcium voltage-gated channel subunit alpha1 S
  • 347
  • 24 Dec 2020
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