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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Intranuclear Rod Myopathy
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 426
  • 23 Dec 2020
Topic Review
Iron-Refractory Iron Deficiency Anemia
Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.
  • 405
  • 23 Dec 2020
Topic Review
48,XXYY Syndrome
48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.
  • 4.6K
  • 23 Dec 2020
Topic Review
Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
  • 351
  • 23 Dec 2020
Topic Review
Isobutyryl-CoA Dehydrogenase Deficiency
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins.
  • 342
  • 23 Dec 2020
Topic Review
Isolated Duane Retraction Syndrome
Isolated Duane retraction syndrome is a disorder of eye movement.
  • 311
  • 23 Dec 2020
Topic Review
Isolated Pierre Robin Sequence
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.
  • 422
  • 23 Dec 2020
Topic Review
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 323
  • 23 Dec 2020
Topic Review
Isolated Congenital Asplenia
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).
  • 413
  • 23 Dec 2020
Topic Review
48,XXXY Syndrome
48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
  • 4.7K
  • 23 Dec 2020
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