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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Microcephaly-Capillary Malformation Syndrome
Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 351
  • 23 Dec 2020
Topic Review
IL23R Gene
Interleukin 23 receptor
  • 360
  • 23 Dec 2020
Topic Review
47,XYY Syndrome
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.  
  • 1.1K
  • 23 Dec 2020
Topic Review
IL1A Gene
Interleukin 1 alpha
  • 300
  • 23 Dec 2020
Topic Review
NGF Gene
nerve growth factor
  • 344
  • 23 Dec 2020
Topic Review
Microcephalic Osteodysplastic Primordial Dwarfism TypeII
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly).
  • 380
  • 23 Dec 2020
Topic Review
NFU1 Gene
NFU1 iron-sulfur cluster scaffold
  • 323
  • 23 Dec 2020
Topic Review
Thrombocytopenia-absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.  
  • 377
  • 23 Dec 2020
Topic Review
NFKBIA Gene
NFKB inhibitor alpha
  • 326
  • 23 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 476
  • 23 Dec 2020
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