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
PDP1 Gene
pyruvate dehydrogenase phosphatase catalytic subunit 1
  • 408
  • 25 Dec 2020
Topic Review
PDHX Gene
pyruvate dehydrogenase complex component X
  • 366
  • 25 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 428
  • 25 Dec 2020
Topic Review
PDHA1 Gene
pyruvate dehydrogenase E1 alpha 1 subunit
  • 384
  • 25 Dec 2020
Topic Review
PDGFRB Gene
platelet derived growth factor receptor beta
  • 348
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 390
  • 25 Dec 2020
Topic Review
Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. 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, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  
  • 367
  • 25 Dec 2020
Topic Review
Friedreich Ataxia
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).
  • 362
  • 25 Dec 2020
Topic Review
PDGFB Gene
platelet derived growth factor subunit B
  • 396
  • 25 Dec 2020
Topic Review
Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."
  • 642
  • 25 Dec 2020
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