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Fragile X Syndrome@Rare Disorders
Klinefelter SyndromeVon Hippel-Lindau Disease
Personal StoriesXeroderma Pigmentosum

See Also:
Cystic Fibrosis
Down Syndrome
Huntington''s Disease
Polycystic Kidney
Sickle Cell Disease
Support Groups
Turner Syndrome

Surf these sites:
Alliance of Genetic Support Groups -- Devoted to promoting optimum health care for people suffering from genetic disorders.
Alpha One Foundation -- Dedicated to finding a cure for alpha1-antitrypsin deficiency and to improving the quality of life of patients.
Alpha-1 Antitrypsin Deficiency (A1AD) Association -- Non-profit organization dedicated to improving the lives of those affected by this illness.
Carnitine Palmitoyltransferase deficiency -- Newsletter for health care professionals and patients interested in CPT deficiency, a mitochondrial disorder of fat metabolism that causes muscle breakdown.
Chromosome 18 Issues, Support and Awareness Discussion Board -- A discussion board for people affected by chromosome 18 disorders.
Familial Hypercholesterolemia treatment, prevention, and more. -- Updated information on treatment, prevention, diagnosis and support groups.
Floating Harbor Syndrome Support Group -- Provides a list of symptoms and offers support for parents whose children have Floating Harbor Syndrome.
GeneClinics -- A medical knowledge base relating genetic testing to the diagnosis, management, & genetic counseling of individuals & families with specific inherited disorders - from the Univ. of Washington.
GeneTests: Genetic Testing Resource -- Free resource including laboratory directory, genetics and prenatal diagnosis clinic directory, and introduction to genetic counseling.
Genetic Disease Information -- Guide for people searching for information about genetic diseases, chromosome defects, gene testing, and genetic counseling.
Genetic Disorders treatment, prevention, and more. -- Information on treatment, prevention, diagnosis, and support groups.
Genetic Information and Patient Services, Inc (GAPS) -- Links to online definitions, information sites, and support groups for genetic disorders and birth defects.
Hereditary Disease Foundation -- Non-profit organization dedicated to cure of genetic disease. All publicly donated funds support biomedical research.
Human Genomics -- Information on the Human Genome Project, genetic diseases, gene therapy, cloning, stem cell research and more.
International Joseph Disease Foundation -- A non-profit group offering education, support and medical referrals to patients with Machado-Joseph Disease.
International Society for Mannosidosis & Related Diseases -- A nonprofit organization for support, education and research on Alpha Mannosidosis and other similar disorders.
Kimball Genetics - Genetic Testing in Preventive Medicine -- Genetic testing and counseling for hemochromatosis, venous thrombosis, fragile X and other disorders.
Late Onset Congenital Adrenal Hyperplasia -- Information on a less severe form of CAH in which symptoms vary widely and appear anywhere between infancy and late adolescence.
Lowe Syndrome Association -- Information about Lowe (oculo-cerebro-renal) syndrome and the international organization that deals with it.
McArdle''s Disease Information Source -- Contains information on symptoms and treatment of this illness.
Meckel Gruber Syndrome: In Memorium for Max -- Memorial, and research information regarding Meckel Gruber Syndrome. Parents Forum and more.
Medical Genetics has a homepage -- The medical genetics resource guide: from tests to counseling to therapies to the latest in genetic discoveries
Nail Patella Syndrome -- Patient-written site about a genetic syndrome that affects the joints, eyes and kidneys with links to other resources.
New Zealand Lysosomal Storage Diseases Support Group -- Information, support and advocacy for families affected by Lysosomal Storage Diseases, a group of rare genetic diseases.
OMIM Home Page -- Online Mendelian Inheritance in Man -- This is a database of genes and genetic disorders complete with text, pictures and references.
Primary Ciliary Dyskinesia -- Information on a rare congenital disease.
Progeria Research Foundation, Inc. -- Progeria Research Foundation supports medical research, education, and fundraising for this "pre-mature aging" disease.
Rare Genetic Diseases In Children: An Internet Resource Gateway -- A layman''s guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases.
S.O.F.T. -- A support organisation for parents of infants with Trisomy 13 & 18 and other related disorders.
SMA Angels Support Site -- A place for people to find support for Spinal Muscular Atrophy (SMA) / Werdnig-Hoffman.
Site for Glutaric Aciduria type 1 -- Info and links for children with GA1.
Strickler Family Homepage -- A family page offering information about children born with Baller-Gerold syndrome and Omenn syndrome, a form of combined immune deficiency.
Sundowner -- Information on Familial Mediterranean Fever and other diseases that affect people of Melungeon descent in America.
Taryn''s World: About Switches -- Personal page for kids and parents about genetic disorders, especially mannosidosis.
The Beckwith-Wiedemann Support Network Web Site -- A non-profit organization for caregivers and professionals, providing information and peer support for families of affected persons.
The Foundation for Genetic Education and Counseling -- The Foundation for Genetic Education and Counseling will promote genetic education for the general public and for health-care professionals.
Unique Rare Chromosome Disorder Support Group -- Support and information for families of children with rare disorders.
Urea Cycle Disorders -- Information, medical links, and ordering for "God Helps Those Who Help Themselves"-the true story of a one family''s struggle with the illness.

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