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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)3
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
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.
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
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
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
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.