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
GEFS+
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity.
  • 733
  • 23 Dec 2020
Topic Review
Tetrasomy 18p
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.  
  • 507
  • 23 Dec 2020
Topic Review
Generalized Pustular Psoriasis
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis.
  • 444
  • 23 Dec 2020
Topic Review
MTM1 Gene
myotubularin 1
  • 334
  • 23 Dec 2020
Topic Review
Terminal Osseous Dysplasia
Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.  
  • 475
  • 23 Dec 2020
Topic Review
Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.
  • 291
  • 23 Dec 2020
Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 330
  • 23 Dec 2020
Topic Review
TSHR Gene
thyroid stimulating hormone receptor
  • 537
  • 23 Dec 2020
Topic Review
Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.  
  • 646
  • 23 Dec 2020
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 392
  • 23 Dec 2020
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