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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Entries
Topic Review
CXCR4 Gene
C-X-C Motif Chemokine Receptor 4
  • 386
  • 23 Dec 2020
Topic Review
KRT17 Gene
Keratin 17
  • 304
  • 23 Dec 2020
Topic Review
Multiple Epiphyseal Dysplasia
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
  • 368
  • 23 Dec 2020
Topic Review
ALG1-congenital Disorder of Glycosylation
ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.
  • 415
  • 23 Dec 2020
Topic Review
KRT16 Gene
Keratin 16
  • 317
  • 23 Dec 2020
Topic Review
VACTERL Association
VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
  • 340
  • 23 Dec 2020
Topic Review
CUL7 Gene
Cullin 7: The CUL7 gene provides instructions for making a protein called cullin-7.
  • 313
  • 23 Dec 2020
Topic Review
KRT14 Gene
Keratin 14
  • 492
  • 23 Dec 2020
Topic Review
Multiple Endocrine Neoplasia
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.
  • 364
  • 23 Dec 2020
Topic Review
Usher Syndrome
Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.
  • 507
  • 23 Dec 2020
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