Health Information
Genetic Disorders
NHGRI
National Human Genome Research Institute
- Clinical Research
- Current NHGRI Clinical Studies
- Frequently Asked Questions About Genetic Disorders
- Frequently Asked Questions About Genetic Research
- Genetic and Rare Diseases Information Center
- Genetic and Rare Diseases Information Center
- Genetic and Rare Diseases: Printed Resource Materials
- Genetic Disorders, Genomics and Healthcare
- Genetic Mapping
- Genetics and Genomics for Patients and the Public
- Genetics, Disease Prevention and Treatment
- Introduction to the Human Genome Project
- Issues in Genetics and Health
- Learning About Achondroplasia
- Learning About Alpha-1 Antitrypsin Deficiency (AATD)
- Learning About An Undiagnosed Condition in a Child
- Learning About An Undiagnosed Condition in an Adult
- Learning About Antiphospholipid Syndrome (APS)
- Learning About Autism
- Learning About Autoimmune Lymphoproliferative Syndrome (ALPS)
- Learning About Autosomal Dominant Polycystic Kidney Disease
- Learning About Charcot-Marie-Tooth Disease
- Learning About Cri du Chat Syndrome
- Learning About Crohn's Disease
- Learning About Dercum Disease
- Learning About Down Syndrome
- Learning About Duane Syndrome
- Learning About Duchenne Muscular Dystrophy
- Learning About Factor V Leiden Thrombophilia
- Learning About Familial Hypercholesterolemia
- Learning About Familial Mediterranean Fever
- Learning About Fragile X Syndrome
- Learning About Gaucher Disease
- Learning About Hemophilia
- Learning About Hereditary Hemochromatosis
- Learning About Holoprosencephaly (HPE)
- Learning About Klinefelter Syndrome
- Learning About Marfan Syndrome
- Learning About Myotonic Dystrophy
- Learning About Neurofibromatosis
- Learning About Noonan Syndrome
- Learning About Osteogenesis Imperfecta
- Learning About Phenylketonuria (PKU)
- Learning About Poland Anomaly
- Learning about Porphyria
- Learning About Retinitis Pigmentosa
- Learning About Severe Combined Immunodeficiency (SCID)
- Learning About Spinal Muscular Atrophy
- Learning About Trimethylaminuria
- Learning About Turner Syndrome
- Learning About Velocardiofacial Syndrome
- Learning About WAGR Syndrome
- NHGRI Genetics Health Information for the Public
- Program to Develop Therapeutics for Rare and Neglected Diseases
- Specific Genetic Disorders
- Talking Glossary of Genetic Terms
- Talking Glossary of Genetic Terms
- Web-Based Clinical Resources
NINDS
National Institute of Neurological Disorders and Stroke
- Angelman Syndrome Information Page
- Angelman Syndrome Information Page
- Batten Disease
- Batten Disease Fact Sheet
- Congenital Myopathies Information Page
- Enfermedad de Batten Spanish
- Huntington’s Disease and other Triplet Repeat Disorders
- NINDS Alphabetical List of Disorders
- NINDS Infantile Neuroaxonal Dystrophy Information Page
- Pompe Disease
- Pompe Disease Information Page
- Sandhoff Disease
- Scientists Discover First Gene for Tourette Syndrome
- Study Finds Biochemical Defect in Juvenile Batten Disease
- Sturge-Weber Syndrome
- Von Hippel-Lindau Disease
- Von Hippel-Lindau Disease (VHL) Information Page
- Williams Syndrome
Call (800) 352-9424 for more information
NIDCR
National Institute of Dental and Craniofacial Research
NICHD
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Call (800) 370-2943 for more information
NIDCD
National Institute on Deafness and Other Communication Disorders
NCI
National Cancer Institute
Call (800) 422-6237 for more information
NEI
National Eye Institute
Call (301) 496-5248 for more information
NHLBI
National Heart, Lung, and Blood Institute
Call (301) 496-4236 for more information
NIA
National Institute on Aging
- Hemoglobin Levels Linked to Moderated Symptoms of Beta-thalassemia
- Study to Examine Early, Inherited Form of Alzheimer's
Call (301) 496-1752 for more information
NIAMS
National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Fast Facts about Epidermolysis Bullosa [ PDF Version ]
- Questions and Answers About Heritable Disorders of Connective Tissue
Call (877) 22-NIAMS or (301) 495-4484 for more information
NIDDK
National Institute of Diabetes and Digestive and Kidney Diseases
NIGMS
National Institute of General Medical Sciences
- Genetic Basics PDF
Call (301) 496-7301 for more information
NIMH
National Institute of Mental Health
Call (301) 443-4513 for more information
NLM
National Library of Medicine
- Carnitine-acylcarnitine translocase deficiency
- Early-onset glaucoma
- Ellis-van Creveld Syndrome
- Friedreich's Ataxia
- Genetic Conditions Directory
- Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase Deficiency
- Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency
- Genetics Home Reference: 3-methylglutaconic aciduria
- Genetics Home Reference: Ankylosing Spondylitis
- Genetics Home Reference: Brugada Syndrome
- Genetics Home Reference: Carnitine Palmitoyltransferase I Deficiency
- Genetics Home Reference: Carnitine Palmitoyltransferase II Deficiency
- Genetics Home Reference: Cerebral Cavernous Malformation
- Genetics Home Reference: Citrullinemia
- Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency
- Genetics Home Reference: Glutaric acidemia type 1
- Genetics Home Reference: GM2-Gangliosidosis, AB Variant
- Genetics Home Reference: Harlequin Ichthyosis
- Genetics Home Reference: Hereditary Hemorrhagic Telangiectasia
- Genetics Home Reference: Holocarboxylase Synthetase Deficiency
- Genetics Home Reference: Isovaleric acidemia
- Genetics Home Reference: Methemoglobinemia, Beta-globin Type
- Genetics Home Reference: Norrie Disease
- Genetics Home Reference: Primary Carnitine Deficiency
- Genetics Home Reference: Sandhoff Disease
- Genetics Home Reference: Smith-Lemli-Opitz Syndrome
- Genetics Home Reference: Tourette syndrome
- Genetics Home Reference: Tyrosinemia
- Genetics Home Reference: Werner Syndrome
- Genetics Home Reference: Your Guide to Understanding Genetic Conditions
- Genetics/Birth Defects
- Help Me Understand Genetics
- Usher Syndrome
- Vitelliform macular dystrophy
- Von Hippel-Lindau Disease
OD
Office of the Director
ORDR
Office of Rare Diseases Research
Call (301) 402-4336 for more information
Related Topics
Clinical Trials Information
The NIH funds research studies that you may be able to join. Visit clinicaltrials.gov for a list of ongoing clinical trials.
This page last reviewed on
Thursday, April 07, 2011
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