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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Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 504
  • 24 Dec 2020
Topic Review
RPE65
RPE65, retinoid isomerohydrolase
  • 489
  • 24 Dec 2020
Topic Review
Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.
  • 322
  • 24 Dec 2020
Topic Review
TBC1D24 Gene
TBC1 domain family member 24: The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear.
  • 417
  • 24 Dec 2020
Topic Review
Aniridia
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
  • 405
  • 24 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 413
  • 24 Dec 2020
Topic Review
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
  • 1.3K
  • 24 Dec 2020
Topic Review
TBC1D20 Gene
TBC1 domain family member 20: The TBC1D20 gene provides instructions for making a protein that helps regulate the activity of other proteins called GTPases, which control a variety of functions in cells. 
  • 350
  • 24 Dec 2020
Topic Review
Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
  • 536
  • 24 Dec 2020
Topic Review
RNF213 Gene
ring finger protein 213
  • 355
  • 24 Dec 2020
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