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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Topic Review
KCNK9 Imprinting Syndrome
KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth.
  • 493
  • 23 Dec 2020
Topic Review
LMBRD1 Gene
LMBR1 domain containing 1
  • 329
  • 23 Dec 2020
Topic Review
CYP21A2 Gene
Cytochrome P450 Family 21 Subfamily A Member 2
  • 358
  • 23 Dec 2020
Topic Review
Kabuki Syndrome
Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
  • 402
  • 23 Dec 2020
Topic Review
Myoclonic Epilepsy Myopathy Sensory Ataxia
Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders.
  • 798
  • 23 Dec 2020
Topic Review
Warfarin Resistance
Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming.
  • 639
  • 23 Dec 2020
Topic Review
Kallmann Syndrome
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.
  • 527
  • 23 Dec 2020
Topic Review
LIPH Gene
Lipase H
  • 390
  • 23 Dec 2020
Topic Review
Kaufman Oculocerebrofacial Syndrome
Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).
  • 558
  • 23 Dec 2020
Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 360
  • 23 Dec 2020
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