- Angelman Syndrome Foundation (USA) provides information for parents and professionals about Angelman Syndrome, a genetic disorder caused by abnormal function of the gene UBE3A.
- Down Syndrome Congress offers information, resources, and network supports for families and professionals interested in Down Syndrome.
- Galactosemia (OMIM) , an online research article
- Galactosemia is an online resource offering general information about galactosemia, galactose content in foods, discussion forum, recipes, and related links.
- Genetic Alliance offers information, research, professional and support group resources, as well as provides forum for the discussion of legal, ethical, and social issues related to genetic disorders.
- Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes responsible for those conditions.
- United Mitochondrial Disease Foundation offers information, educational resources, support group network for families affected by mitochondrial diseases.
- National Urea Cycle Disorders Foundation educates families and professionals on urea cycle disorders as well as increases public awareness of the problem.
- National Organization for Rare Disorders offers databases of reports and articles on rare disorders, provides general information about rare diseases, and serves as a guide to organizations that help people with rare diseases.
- OMIM, Online Mendelian Inheritance in Man is a database of human genes and genetic disorders. The database contains textual information, pictures, and reference information. It also contains links to NCBI's Entrez database of MEDLINE articles and sequence information.
- PKU News offers information and news about phenylketonuria.
- Prader-Willi Syndrome Association (USA) offers information about Prader-Willi syndrome, publications, research, support groups, and events.
Regional Genetic Networks
- Mid-Atlantic Regional Human Genetics Network (MARHGN) offers genetic services for Delaware, Maryland, New Jersey, Pennsylvania, Virginia, West Virginia, and the District of Columbia.
- Mountain States Genetics Network offers genetic services for Arizona, Colorado, Montana, New Mexico, Utah, and Wyoming.
- Pacific Northwest Regional Genetics Group (PACNORGG) offers genetic services for Alaska, Idaho, Oregon, and Washington.
- Southeastern Regional Genetics Group (SERGG) offers genetic services for the Southeastern region: Alabama, Florida, Georgia, Kentucky, Louisiana, Mississippi, North Carolina, South Carolina, and Tennessee.
- Texas Genetics Network (TEXGENE) offers genetic services for Texas.
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