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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Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).
  • 423
  • 23 Dec 2020
Topic Review
HSD17B4 Gene
Hydroxysteroid 17-beta dehydrogenase 4
  • 357
  • 23 Dec 2020
Topic Review
Histidinemia
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.
  • 602
  • 23 Dec 2020
Topic Review
Hirschsprung Disease
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.
  • 451
  • 23 Dec 2020
Topic Review
HSD17B10 Gene
Hydroxysteroid 17-beta dehydrogenase 10
  • 427
  • 23 Dec 2020
Topic Review
Hidradenitis Suppurativa
Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin.
  • 342
  • 23 Dec 2020
Topic Review
HRAS Gene
HRas proto-oncogene, GTPase
  • 325
  • 23 Dec 2020
Topic Review
Heterotaxy Syndrome
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen.
  • 537
  • 23 Dec 2020
Topic Review
HPS3 Gene
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
  • 310
  • 23 Dec 2020
Topic Review
HPS1 Gene
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  • 297
  • 23 Dec 2020
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