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
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 354
  • 24 Dec 2020
Topic Review
NR0B1 Gene
nuclear receptor subfamily 0 group B member 1
  • 377
  • 24 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 300
  • 24 Dec 2020
Topic Review
Dihydrolipoamide Dehydrogenase Deficiency
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
  • 446
  • 24 Dec 2020
Topic Review
Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.
  • 501
  • 24 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 507
  • 24 Dec 2020
Topic Review
Diastrophic Dysplasia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
  • 427
  • 24 Dec 2020
Topic Review
SLC22A12 Gene
solute carrier family 22 member 12
  • 319
  • 24 Dec 2020
Topic Review
Pilomatricoma
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles.
  • 514
  • 24 Dec 2020
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 530
  • 24 Dec 2020
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