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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Home Reference: Spinal Muscular Atrophy Muscular Dystrophy Association - USA NORD: Spinal Muscular Atrophy GARD: Spinal …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetics Home Reference: F5 gene The American Heart Association The National Heart, Lung, and Blood Institute The …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the most common, does not … at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. … the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health Information …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A … is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. The two main …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and markers found within families. These studies may shed additional light on how HD is passed from …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… to the CFTR cells in the airways of the lung. Subsequent studies have tested other methods of gene delivery, such as … fibrosis. Researchers at the University of Washington's Genome Center and at PathoGenesis Corporation have completed … a repository for data derived from gene expression studies. By pooling information, researchers hope to …