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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Skin cancer is the most common type of cancer in the United States.
… Skin Cancer NCI: Skin Cancer The Skin Cancer Foundation Genetics Home Reference: Melanoma … How prevalent is skin …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Treating Genetic Diseases: Familial Hypercholesterolemia Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia NHLBI: Thalassemias Medline Plus: Thalassemia Genetics Home Reference: Beta thalassemia Thalassemia.com …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… atrophy NINDS: Spinal Muscular Atrophy Information Page Genetics Home Reference: Spinal Muscular Atrophy Muscular …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease - Genetics Home Reference National Organization for Rare … Page National Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… adulthood. Additional Resources for Klinefelter Syndrome Genetics Home Reference: Klinefelter syndrome Medline Plus: …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… syndrome. … A diagnosis of APS is made based on both clinical and laboratory findings. APS is diagnosed if an …
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
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Bowel Disease Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding …