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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Isolated Ectopia Lentis
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
  • 337
  • 23 Dec 2020
Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 358
  • 23 Dec 2020
Topic Review
Miller-Dieker Syndrome
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly.
  • 754
  • 23 Dec 2020
Topic Review
Isolated HyperCKemia
Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood.
  • 413
  • 23 Dec 2020
Topic Review
Isolated Hyperchlorhidrosis
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat.
  • 355
  • 23 Dec 2020
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 423
  • 23 Dec 2020
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 461
  • 23 Dec 2020
Topic Review
NLRP7 Gene
NLR family pyrin domain containing 7
  • 334
  • 23 Dec 2020
Topic Review
Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
  • 352
  • 23 Dec 2020
Topic Review
Isovaleric Acidemia
Isovaleric acidemia is a rare disorder in which the body is unable to properly break down a particular protein building block (amino acid). The condition is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
  • 292
  • 23 Dec 2020
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