27.10.2007

OMIM - Online Mendelian Inheritance in Man

OMIM, Online Mendelian Inheritance in Man, a database of human genes and genetic disorders developed by staff at Johns Hopkins and hosted on the Web by NCBI.

ORPHANET

Orphanet is a database of rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.

Genetic Conditions - Genetics Home Reference

Your Guide to Understanding Genetic Conditions

Atlas of congenital anomalies

Developmental and genetic diseases. Genetic Birth Defects Images

GeneReviews: Diseases and Overviews

Congenital Syndromes Database

The Multiple Congenital Anomaly/Mental Retardation file was developed by Stanley Jablonski. It describes syndromes in which multiple congenital anomalies are associated with mental retardation and consists of structured descriptions of approximately 700 out of the 1600-2000 syndromes of congenital abnormalities known to be associated with mental retardation.

Specific Diagnoses Card Catalog

This Card Catalog can help you find information about specific disabilities.

Genetic Conditions

Information on genetic conditions and birth defects for professionals. Maintained by Medical Genetics, University of Kansas Medical Center

Chromosomal Variation in Man

The database of CHROMOSOMAL VARIATION IN MAN consists of a systematic collection of important citations from the world's literature reporting on all common and rare chromosomal alterations, phenotypes, and abnormalities in humans. The database is organized by variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. It contains over 24,000 entries updated continuously since 1974.

NORD - National Organization for Rare Disorders, Inc.

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases.

Key Internet Genetics Resources for the Clinician - Uhlmann and Guttmacher - JAMA 2008; 299(11):1356-1358.