Medical Genetics

Genes and Disease
(NCBI Bookshelf)
This a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. A one-time registration process is required.
Genetic & Rare Conditions
support groups & information compiled by the University of Kansas Medical Center
Genetics and Rare Conditions Site, Medical Genetics, University of Kansas Medical Center
(University of Kansas Medical Center)
Genetics Counseling Programs
This site provides links to graduate programs in genetic counseling.
An Introduction to Genetic Analysis, 7th edition
(NCBI Bookshelf, Griffiths et al.)
Medical and Clinical Genetics
Merck Manual for Health Care Professionals: Overview of Genetics
(Merck Manual of Diagnosis and Therapy)
This online textbook provides a basic introduction to the principles of medical genetics.
National Newborn Screening & Genetics Resource Center
This site is designed for the medical professional and the public.
NORD: National Organization for Rare Disorders
(National Organization for Rare Disorders)
This web site provides a database of abstracts describing rare disorders. More extensive reports and articles can be ordered online for a fee. Also provides news, a database of organizations and and orphan drug list.
Office of Rare Diseases, National Institutes of Health
(National Institutes of Health)
OMIM (Online Mendelian Inheritance in Man)
OMIM is a database of human genes and genetic disorders which contains textual information, pictures, reference information, and links to related resources.
This site provides information about rare diseases and orphan drugs.
Standards and Guidelines for Clinical Genetics Laboratories
These guidelines are developed byt the Laboratory quality Assurance Committee of the American College of Genetics.
Talking Glossary of Genetic Terms
(National Human Genome Research Institute)
This site, developed by the National Human Genome Research Institute, provides definitions and a pronunciation guide for genetics terms.The terms also have a spoken detailed explanation by an expert in the field.