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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Fibrochondrogenesis
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.
  • 531
  • 25 Dec 2020
Topic Review
Smith-Magenis Syndrome
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body.
  • 647
  • 25 Dec 2020
Topic Review
TMCO1 Gene
Transmembrane and coiled-coil domains 1: The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow.
  • 400
  • 25 Dec 2020
Topic Review
PAX2 Gene
paired box 2
  • 456
  • 25 Dec 2020
Topic Review
Feingold Syndrome
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
  • 633
  • 25 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 398
  • 25 Dec 2020
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 554
  • 25 Dec 2020
Topic Review
PANK2 Gene
pantothenate kinase 2
  • 391
  • 25 Dec 2020
Topic Review
PAH Gene
phenylalanine hydroxylase
  • 642
  • 25 Dec 2020
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 406
  • 25 Dec 2020
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