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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Auriculo-condylar Syndrome
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).
  • 501
  • 24 Dec 2020
Topic Review
Rabson-Mendenhall Syndrome
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 433
  • 24 Dec 2020
Topic Review
PDGFRA-Associated Chronic Eosinophilic Leukemia
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.
  • 354
  • 24 Dec 2020
Topic Review
PACS1 Syndrome
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
  • 493
  • 24 Dec 2020
Topic Review
Otulipenia
Otulipenia is characterized by abnormal inflammation throughout the body.
  • 431
  • 24 Dec 2020
Topic Review
RNAse T2-Deficient Leukoencephalopathy
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress).
  • 404
  • 04 Apr 2021
Topic Review
Otospondylomegaepiphyseal Dysplasia
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss.
  • 393
  • 24 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 394
  • 24 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 2
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.
  • 355
  • 24 Dec 2020
Topic Review
SCN9A Gene
sodium voltage-gated channel alpha subunit 9
  • 365
  • 24 Dec 2020
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