- Genes and Disease
(NCBI Bookshelf)
- GeneTests·GeneClinics
- 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.
- Orphanet
- 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.