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
Unverricht-Lundborg Disease
Unverricht-Lundborg disease is a rare inherited form of epilepsy.
  • 403
  • 23 Dec 2020
Topic Review
KRT10 Gene
Keratin 10
  • 409
  • 23 Dec 2020
Topic Review
Multiminicore Disease
Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.
  • 444
  • 23 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 524
  • 23 Dec 2020
Topic Review
KRAS Gene
KRAS proto-oncogene, GTPase
  • 396
  • 23 Dec 2020
Topic Review
Multicentric Osteolysis, Nodulosis, and Arthropathy
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
  • 372
  • 23 Dec 2020
Topic Review
Uncombable Hair Syndrome
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. 
  • 496
  • 23 Dec 2020
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 511
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type VII
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.
  • 333
  • 23 Dec 2020
Topic Review
KLHL3 Gene
Kelch like family member 3
  • 367
  • 23 Dec 2020
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