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
C3 Gene
complement C3
  • 600
  • 24 Dec 2020
Topic Review
Bradyopsia
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.
  • 637
  • 24 Dec 2020
Topic Review
Bowen-Conradi Syndrome
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.
  • 713
  • 24 Dec 2020
Topic Review
BUB1B Gene
BUB1 mitotic checkpoint serine/threonine kinase B
  • 397
  • 24 Dec 2020
Topic Review
Chromosome 8
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs.
  • 498
  • 24 Dec 2020
Topic Review
Boucher-Neuhäuser Syndrome
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
  • 653
  • 24 Dec 2020
Topic Review
BTK Gene
Bruton tyrosine kinase
  • 470
  • 24 Dec 2020
Topic Review
DVL1 Gene
Dishevelled Segment Polarity Protein 1
  • 328
  • 24 Dec 2020
Topic Review
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
  • 539
  • 24 Dec 2020
Topic Review
BTD Gene
biotinidase
  • 382
  • 24 Dec 2020
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