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
PHEX Gene
phosphate regulating endopeptidase homolog X-linked
  • 534
  • 25 Dec 2020
Topic Review
Fryns Syndrome
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.
  • 448
  • 25 Dec 2020
Topic Review
PGAP2 Gene
post-GPI attachment to proteins 2
  • 413
  • 25 Dec 2020
Topic Review
Frontotemporal Ddementia with Parkinsonism-17
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It is part of a group of conditions, called frontotemporal dementia or frontotemporal degeneration, that are characterized by a loss of nerve cells (neurons) in areas of the brain called the frontal and temporal lobes. Over time, a loss of these cells can affect personality, behavior, language, and movement.
  • 498
  • 25 Dec 2020
Topic Review
TMEM127 Gene
Transmembrane protein 127 (TMEM 127): Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma).
  • 531
  • 25 Dec 2020
Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 415
  • 25 Dec 2020
Topic Review
Frontonasal Dysplasia
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
  • 558
  • 25 Dec 2020
Topic Review
PEX7 Gene
peroxisomal biogenesis factor 7
  • 382
  • 25 Dec 2020
Topic Review
PEX1 Gene
peroxisomal biogenesis factor 1
  • 466
  • 25 Dec 2020
Topic Review
PEPD Gene
peptidase D
  • 327
  • 25 Dec 2020
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