Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions Learn about the signs and symptoms, causes, and inheritance of more than 1,300 health conditions with a genetic basis.
The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.
Health Conditions. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches ...
NLM Genetics Home Reference - PubChem data source information. Find all the data submitted to PubChem by NLM Genetics Home Reference.
BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective. Clin Genet. 2014 Jan;85(1):1-4. doi: 10.1111/cge.12291. Epub 2013 Oct 25.
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry).
Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin.Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.
Genetics Home Reference and Precision Medicine. Genetics Home Reference provides information targeted to patients and families with genetic disorders and to individuals interested in genetics who do not have a science background. Genetics Home Reference receives an average of 1.5 million visitors and 3.6 million page views each month.
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease