The definitive resource for reliable genetics information.

Information about NCBI's involvement in NCI's CGAP collaboration.

Funded by NIH, HRSA, and DOE New Users Register Here Lost Password Return Visitors User Name Password 06/14/02 49980 Registered Users 148 Reviews 1057 Clinics 538 Laboratories testing for 936 Diseases Welcome to the GeneTestsGeneClinics Web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to ...

Welcome to the home page of the Hereditary Disease Foundation, a non-profit, basic science organization dedicated to the cure of genetic disease. 100% of all publicly donated funds is directed to the support of biomedical research.

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

Information on genetic conditions and birth defects for professionals, educators, and individuals. Links to lay advocacy and support groups, clinics with genetic counselors and geneticists, sites for children and young adults. Maintained by Medical Genetics, University of Kansas Medical Center ...

Xeroderma Pigmentosum Society, Inc. - Not-for-profit organization to support xp patient families and promote research related to this rare, genetic disorder.

HHMI's colorful Web book describes the excitement in biomedical research as scientists discover the causes of baffling diseases: abnormal genes. Included: family studies; the Human Genome Project; how to conquer hereditary diseases like cystic fibrosis; beautiful graphics; key to basic genetics; glossary.

The Center for Inherited Disease Research (CIDR) is a centralized facility established to provide genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease. CIDR concentrates primarily on multifactorial hereditary disease although linkage analysis of single gene disorders can also be accommodated. CIDR was established in 1996 as a ...

Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome ...

Newsletter for health care professionals and patients interested in CPT deficiency, a rare genetic disorder of fat metabolism that causes muscle breakdown.

NDRF provides patient support, medical referral, educational material, newsletters, an online discussion forum and a research protocol database for individuals impacted with dysautonomia.

The Medical Genetics site is to supplement the Medical Genetics text book written by Jorde et. al. in medical education.

A globally focused U.S. 501 c3 organization that advocates for persons affected by Oligosaccharide Storage Diseases ...

G6PD Deficiency Web Site - offering information on the genetic, physiological, molecular and clinical aspects of G6PD deficiency, the most common enzyme deficiency in the world.

The CIDEM Laboratories are a group of inter-disciplinary, clinical diagnostic laboratories which focus on disorders of mitochondrial function that interfere with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain ...

XLH Network is a patient support group for: X-Linked Hypophosphatemia (XLH), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

This site was designed for the purpose of educating parents and medical professionals about what living with CAH is like. There is very little information on the psychological effects of CAH. This site will try to remedy that problem by bringing as much information to you as possible. The print is in green which is the color for hope that no other child ...

Information Forum - Mucolipidosis IV, a rare genetic disease...

Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.

Infantile Refsum Disease PEROXISOME BIOGENESIS DISORDERS: ZELLWEGER SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY, INFANTILE REFSUM DISEASE, AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA Welcome to the Infantile Refsum Disease website. We, John Harris and Mary Stephens, are the parents of a wonderful little boy named Ian who is diagnosed with infantile Refsum disease (IRD). Ian was born in March of 1993.

This website is from the PCD Interest Group (PCD Belangengroep). On this site you can find information on Primary Ciliary Dyskinesia in Dutch and English.

Monosomy 9P, otherwise known as Alfi's Syndrome or 9P-, is a rare chromosome anomaly. Due to its rarity, parents of children diagnosed with 9P- are usually left in the dark because so little is known. Parents are often advised that their child will likely die, or will be so severely handicapped that they should be institutionalized. Parents are left feeling isolated, fearful and alone. The good news is that this information is most often incorrect. This is where the support group comes in!

Welcome to the Human Genetics Unit on the World Wide Web.

Web contact: pietsch@indiana.edu Bannayan-Zonana Syndrome familial macrocephaly; autosomal dominant macrocephaly: A quick survey of the 1991-1995 literature conducted at Indiana University, Bloomington, Indiana A rare disorder characterized by a large head and multiple soft tumors and associated with chromosomal abberations, possibly pair 19. For a non-technical description of B-Z syndrome see ...

Explores role of diet and nutrition in birth defects and genetic disorders.