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.

Expand All
Entries
Topic Review
Imerslund-Gräsbeck Syndrome
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
  • 404
  • 23 Dec 2020
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 414
  • 23 Dec 2020
Topic Review
Inclusion Body Myopathy 2
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
  • 393
  • 23 Dec 2020
Topic Review
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.
  • 302
  • 23 Dec 2020
Topic Review
6q24-related Transient Neonatal Diabetes Mellitus
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.
  • 415
  • 23 Dec 2020
Topic Review
ITGA2B Gene
Integrin subunit alpha 2b
  • 403
  • 23 Dec 2020
Topic Review
Incontinentia Pigmenti
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
  • 475
  • 23 Dec 2020
Topic Review
Tibial Muscular Dystrophy
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg.
  • 601
  • 23 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 512
  • 23 Dec 2020
Topic Review
ISCU Gene
Iron-sulfur cluster assembly enzyme
  • 407
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>