• Alliance of Genetic Support Groups - international coalition of individuals, professionals, and genetic support organizations working together to enhance the lives of everyone impacted by genetic conditions.
• Bannayan Zonana Syndrome - B-Z syndrome is a rare, chromosome-related constellation of abnormalities, most notably enlarged head.
• Blazing a Genetic Trail - a series of articles, with graphics and photographs, profiling research on mutant genes and hereditary diseases, from the Howard Hughes Medical Institute.
• Canadian Associaton of Genetic Counsellors (CAGC) - includes information for people who are considering a career in genetic counseling, with links to the major programs in Canadian universities.
• Cancer Genome Anatomy Project (CGAP) - interdisciplinary program to establish the information and technological tools needed to decipher the molecular anatomy of a cancer cell.
• Center for Inherited Disease Research - Johns Hopkins University - high throughput genotyping and statistical genetics services to investigators seeking to identify genes contributing to human disease.
• Center for Inherited Disorders of Energy Metabolism (CIDEM) - Case Western Reserve University - focuses on disorders of mitochondrial function interfering with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain.
• CFC Family Network - designed for parents and professionals looking for support and information on CFC Syndrome.
• Chromosome 9P- Network - international not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.
• Clinical Genetics: A Self Study for Health Care Providers - covers identifying individuals and families who might benefit from genetic services, assisting them in accessing these services, and answering questions they might have following a genetic consultation.
• Dubowitz Syndrome Information & Parent Support - includes information, chat, listserv, and message board.
• G6PD Deficiency - G6PD deficiency is the most common human enzyme deficiency in the world; it affects an estimated 400 million people worldwide.
• GeneCards - provides a quick overview of the vast amount of knowledge about human genes, their products, and diseases in which they are involved.
• GeneClinics - contains genetics disease database and information relating genetic testing to diagnosis, management, and counseling of individuals and families with inherited disorders.
• Genes and Disease - learn about the known genetic causes of cancer and immune system, metabolic, muscle and bone, nervous system, and other diseases. Includes chromosome maps showing the locations of disease genes.
• Genetic Disorders & Birth Defects - Sri Lanka Collection - information about genetic disorders and birth defects pertaining to Sri Lanka.
• Genetics Education and Counseling Program - community and professional awareness and education initiative for the Ashkenazi Jewish population of Western Pennsylvania.
• Hed Foundation - mission is to improve the quality of life for children suffering from HED (hypohidrotic ectodermal dysplasia) and related disorders that affect the body's ability to cool itself.
• Hereditary Disease Foundation - non-profit, basic science organization dedicated to the cure of genetic disease.
• Human Gene Mutation Database - an attempt to collate known (published) gene lesions responsible for human inherited disease.
• Infantile Refsum's Disease - created for families for support and sharing.
• International Organization of Glutaric Acidemia - IOGA supports families affected by this genetically inherited debilitating rare disorder that can cause significant brain damage before diagnosis is made.
• International Society for Mannosidosis & Related Diseases - a nonprofit organization advocating for families and caregivers.
• Lysosomal Storage Diseases: A Family Sourcebook - information on a group of inherited disorders causing progressive neurological deterioration in children.
• Medical Genetics - materials including exams and photos to supplement the textbook by Jorde et al.
• Mucolipidosis IV Foundation - information forum on ML$, a rare genetic disease.
• Murdoch Institute, The - devoted to the research of genetic diseases and birth defects.
• National Association for Psuedoxanthoma Elasticum (NAPE) - support group offering information on the disorder, and a membership-based newsletter.
• National Dysautonomia Research Foundation
• National Society of Genetic Counselors (NSGC) - a leading voice, authority, and advocate for the genetic counseling profession.
• Neurogenetics - Massachusetts General Hospital - information on a variety of neurogenetic diseases including neurofibromatosis, Von Hippel-Lindau disease, and tuberous sclerosis.
• Office of Genetics and Disease Prevention - information and global resources on human genetic research, the Human Genome Project, epidemiology, public health, disease prevention, and health promotion.
• OMIM: Online Mendelian Inheritance in Man - a catalog of human genes and genetic disorders.
• Pseudoxanthoma Elasticum (PXE) - source for information, support group information, clinical and lay bulletins and more.
• Public Health Genetics Society - promotes awareness of the role of genetics in public health and disease and the implications of genetic technology on public health.
• Purine Metabolic Patients' Association (PUMPA) - charity supporting families with members suffering from purine metabolic diseases.
• Question of Genes, A - PBS special explores questions and ethical issues raised by genetic research and testing.
• Rare Genetic Diseases in Children - resource directory with links for rare childhood genetic diseases with message boards and parent-matching.
• Schiz Kidz Buddies - support group for children and families with Schizencephaly, a rare form of brain damage.
• Smith-Lemli-Opitz Syndrome - SLO/RSH is a genetic disorder that affects the development of children both before and after birth.
• Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency - a newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
• Tetrasomy 18p - information and family support.
• Unique - support group for families with any rare chromosome conditions.
• Velo-Cardio-Facial Syndrome - articles, support groups, newsletter and related links.
• Xeroderma Pigmentosum Society, Inc. - provides information on the disease also known as XP.

Down Syndrome

• 7th World Down Syndrome Congress - held in Sydney March 23 to 26, 2000. Includes program information and registration.
• Aim High - reporting items of interest relating to Down Syndrome and providing a forum for families dealing with it.
• Dedicated To Kaitlyn - place for those with a disabled family member to meet and share their thoughts.
• Down Syn On-Line Magazine - information for parents including nutrition therapy, physical therapy and occupational therapy and advice.
• Down Syndrome
• Down Syndrome: A Parents Resource
• Down Syndrome: For New Parents - provides information and resources.
• Down Syndrome: Health Issues - collection of medical essays and information.
• Down's Syndrome
• DownsCity - information services, national events, marketplace and personalities sections.
• downsnet
• DownsNet - provides web space, access, and support to improve the information products, and services available to the Down Syndrome Community.
• Lighter Side of Down Syndrome - resources and respite links for parents and children.
• Pathfinder Village - village specializing in Down Syndrome.
• Riverbend Down Syndrome Parent Support Group - provides support and information to parents of children with Down syndrome in Southwestern Illinois.
• Sarah's Page - with links to sites on down syndrome and inclusion issues in public education, and some of her favorite things.
• Targeted Nutritional Intervention - TNI - therapy for children with Down Syndrome which is designed to make them healthier and improve cognitive performance.
• Uno Mas! Down Syndrome Online - offers information, pictures, calendar of events, contests and more.
• Usenet - bit.listserv.down-syn

Fragile X Syndrome

• Arc's Q&A on Fragile X
• Fragile X Association of Australia - support group with contacts, education and medical aspects.
• Fragile X Association of Southern California - promotes public awareness, provides a forum for parents and supports scientific research.
• Fragile X Syndrome - a statement from the American College of Medical Genetics.
• Fragile X Syndrome - Macroorchidism
• FRAXA Research Foundation - national nonprofit, parent-run foundation which funds medical research aimed at treatment of this single gene disorder and the #1 inherited cause of mental retardation.
• National Fragile X Foundation
• Northern California Fragile X Association - formed to promote public awareness of Fragile X Syndrome. Learn more about the causes and symptoms, and the studies done to understand this disability.
• Caring for People with Huntington's Disease - resource area for caregivers and family members of those with the disease; non medication treatments and adaptive measures are emphasized.
• Deutsche Huntington Hilfe e.V. - Information on Huntington's Diseases and the Deutsche Huntington Hilfe.
• Facing Huntington's Disease
• Huntington Society of Canada - resource site for Canadian Huntington Society chapters, with links to research, resource people, volunteer opportunities, and upcoming events.
• Huntington's Disease Lighthouse - offers information on support, doctors, drugs, nursing homes, and discussion.
• Huntington's Disease Society of America (HDSA) (5)
• Huntington's Disease% - information and links.
• Web Directory - Internet Resources for Huntington's Disease Information

• Caring for People with Huntington's Disease - resource area for caregivers and family members of those with the disease; non medication treatments and adaptive measures are emphasized.
• Facing Huntington's Disease
• Huntington Society of Canada - resource site for Canadian Huntington Society chapters, with links to research, resource people, volunteer opportunities, and upcoming events.
• Huntington's Disease Lighthouse - offers information on support, doctors, drugs, nursing homes, and discussion.
• Huntington's Disease Society of America (HDSA) (5)
• Huntington's Disease% - information and links.
• Web Directory - Internet Resources for Huntington's Disease Information

• Klinefelter Syndrome - A Parent's View
• Klinefelter Syndrome m - educational, non-profit organization dedicated to increasing public awareness about the condition. Includes newsletter, email support list and much more.
• Klinefelter Syndrome Support - support and educational information.
• Klinefelter's Syndrome Association (UK) - support group for KS children and their families as well as adults and their partners.
• New Zealand Klinefelter Association - articles and information for XXY males.
• Understanding Klinefelter Syndrome - a guide for XXY males and their families.

Sickle Cell Anemia

• Joint Center for Sickle Cell and Thalassemia
• SDMC of the Comprehensive Sickle Cell Centers - displays research abstracts, contact information for center directors and staff, and links to other sickle cell sites.
• Sickle Cell Anemia
• Sickle Cell Anemia Information
• Sickle Cell Anemia: A Guide for Parents
• Sickle Cell Defiers
• Sickle Cell Information Center - mission is to provide sickle cell patient and professional education, news, research updates and world wide resources.
• FAQ - Sickle Cell Anemia