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Medical Genetics


Selected and rated by
Roni F. Zeiger, MD


Resources Primarily for Clinicians and Researchers

GeneTests - University of Washington
GeneTests is a NIH-funded project which provides detailed information for the clinician on over 200 genetic diseases, including clinical presentation, genetic counseling, and molecular genetics. This page displays the alphabetical list of diseases. The site also allows users to locate genetic testing laboratories and genetics clinics.
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Online Mendelian Inheritance in Man (OMIM) - National Center for Biotechnology Information
This site is a collection of up-to-date fact sheets on nearly all known genetic disorders and related genes. The fact sheets contain information on the clinical features, inheritance, molecular genetics, mapping, diagnosis, and management of the disorder. Also included are references and often pictures for each disorder.
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The OMIM Morbid Map - National Center for Biotechnology Information
The cytogenetic map location of genes known to contribute to disease. Searchable by keyword, disease name, gene symbol, and chromosomal location.
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Entrez Cross-Database Search - National Center for Biotechnology Information
This search interface allows users to simultaneously search all Entrez databases, including OMIM, PubMed, GenBank, and more. Results are displayed in an intuitive manner.
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Interactive Genetics Cases - UCLA School of Medicine
Interactive genetics cases appropriate for students and practicing clinicians.
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Cancer Genetics - National Cancer Institute
Links for patients and clinicians about genetics and gene testing related to cancer. Includes general topics and specific cancer types.
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Genes and Disease Online Textbook - National Center for Biotechnology Information
Scientist-oriented site cataloging information on over 80 clinical diseases with identified genetic loci. Includes diagrams of metabolic pathways and links to gene sequences, chromosome maps, MEDLINE, and news concerning specific genetic diseases.
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Human Genome Project Information
This site provides basic information about the Human Genome Project and extensive links to related resources.
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The Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB) - Stanford University
Users can search the PharmGKB database for genes, drugs, or diseases and learn how genetic variation among individuals contributes to differences in reactions to drugs.
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National Guideline Clearinghouse - Congential and Hereditary Diseases
Guidelines from the National Guideline Clearinghouse on disorders such as Down Syndrome and Marfan Syndrome.
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Resources Primarily for Patients: Genetic Disorders and Support Groups

Genetic Home Reference - National Library of Medicine
An outstanding resource with consumer information about genetic conditions and the genes resopnsible for them. Includes condition summaries, gene summaries, chromosome summaries, a genetics primer, and a glossary. Also appropriate for clinicians.
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Genetic Disorders Patient Information - New York Online Access to Health (NOAH)
A wealth of well-organized and useful links about genetic disorders. Includes general topics such as genetic testing as well as nearly 100 specific disorders.
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Genetic Health - Patient Information
An excellent resource for patients with information on basic genetics, specific diseases, genetic testing, and ethical issues.
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Genetic and Rare Conditions Support Group Information
This site is primarily a listing of contact information for support groups and medical organizations of both rare and common genetic conditions.
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National Organization for Rare Disorders - Rare Disease Database
This site contains an alphabetical list of brief fact sheets on over a thousand rare medical conditions. Each disease description is followed by links to relevant organizations.
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Alliance of Genetic Support Groups
A non-profit organization providing access to support groups and information about genetic disorders for individuals and families.
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Resources for Patients: Genetic Testing

Genetic Testing and Counseling - MedLine Plus
Reliable patient information from MedLine Plus on genetic testing and counseling, covering topics such as chorionic villous sampling, cancer genetics, and general FAQs. Includes information in Spanish.
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Understanding Gene Testing - U.S. Department of Health and Human Services
This site provides patients and the general public with information and answers to frequently asked questions about genetic testing.
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Genetic Testing for Breast Cancer - American Academy of Family Physicians
A well-written summary for patients on issues surrounding genetic testing for breast cancer.
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Genetic Testing for BRCA1 and BRCA2 - National Cancer Institute
A patient oriented overview of BRCA genetic testing, focused on how individuals can decide if testing makes sense for them.
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