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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 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
Specific Genetic Disorders
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
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 for Dental and Craniofacial Research
Genetics
NICHD
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Congenital Adrenal Hyperplasia
Families and Fragile X Syndrome
Phenylketonuria (PKU)
Prader-Willi Syndrome
What is Fragile X syndrome?
What is Primary Immunodeficiency?
Call (800) 370-2943 for more information
NCI
National Cancer Institute
Questions and Answers About Living With Beckwith-Wiedemann Syndrome
Call (800) 422-6237 for more information
NHLBI
National Heart, Lung, and Blood Institute
What Is Hemochromatosis?
What Is Hemophilia?
What Is Thalassemia?
Call (301) 496-4236 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
[
PDF
Version ]
Call (877) 22-NIAMS or (301) 495-4484 for more information
NIDDK
National Institute of Diabetes and Digestive and Kidney Diseases
Familial Multiple Endocrine Neoplasia Type 1
NIGMS
National Institute of General Medical Sciences
Genetic Basics
PDF
Call (301) 496-7301 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
Help Me Understand Genetics
Usher Syndrome
Vitelliform macular dystrophy
Von Hippel-Lindau Disease
OD
Office of the Director
History for Your Health
ORD
Office of Rare Diseases
Genetic and Rare Diseases Information Center
Office of Rare Diseases Research
Call (301) 402-4336 for more information
Related Topics
Birth Defects
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Cleft Lip and Palate
Cystic Fibrosis
Down Syndrome
Genetic Testing/Counseling
Hemochromatosis
Osteogenesis Imperfecta
Sickle Cell Anemia
Anophthalmia & Microphthalmia
Usher Syndrome
Rett Syndrome
Head and Brain Malformations
Genetics/Birth Defects
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NHGRI
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NHLBI
NIAMS
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OD
ORD
MedlinePlus
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.
Check It Out!
Genetics Home Reference:
Your Guide to Understanding Genetic Conditions
Research Advances
Risk of Autism Tied to Genes that Influence Brain Cell Connections
NIH Nanotechnology Task Force and the NIH Nanomedicine Roadmap Initiative Host NanoWeek 2009
New Findings Raise Questions about Process Used to Identify Experimental Drug for Rare Genetic Diseases
Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation
This page was last reviewed on Wednesday, March 04, 2009.