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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
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… of autism is based on standardized testing plus a clinical evaluation by an autism specialist. These … not certain what causes autism, but it's likely that both genetics and environment play a role. The causes of autism …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… wide neck or swelling of the hands and feet. The two main clinical features of Turner syndrome are short stature and … Resources for Turner Syndrome NICHD: Turner Syndrome Genetics Home Reference: Turner Syndrome Medline Plus: Turner …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… NEI: Retinitis Pigmentosa GARD: Retinitis Pigmentosa Genetics Home Reference: Retinitis Pigmentosa Foundation …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… weakness, and autonomic dysfunction. The degree to which clinical symptoms of fragile X are present (penetrance) is …
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.
… on how severe it is. PA can be detected through thorough clinical evaluation and from a variety of specialized tests. … MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home Reference: Poland Syndrome GARD: Poland …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… making this family more likely to develop the condition. Genetics: The Basics Our genetic material is stored in the … for this disease by setting up an appointment with a genetics health professional. Genetic professionals work as … Disease Information Page Medline Plus: Parkinson's Disease Genetics Home Reference: Parkinson Disease Parkinson …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… For more information about genetic counseling go to the Genetics Home Reference . There are companies that will soon … Plus: Prostate Cancer NCI: Prostate Cancer Information Genetics Home Reference: Prostate Cancer Zerocancer.org GARD: …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle Cell Disease NIH Fact Sheet: Sickle Cell Disease Genetics Home Reference: Sickle Cell Disease GARD: Sickle …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… Cancer National Cancer Institute Colon Cancer Alliance Genetics and Rare Diseases Information Center Familial adenomatous polyposis - Genetics Home Reference Lynch Syndrome - Genetics Home Reference Do You Know Tony? Family History of …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… GeneReviews: Hemophilia A GeneReviews: Hemophilia B Genetics Home Reference: Hemophilia Medline Plus: Hemophilia …