Genetic Disorders and Traits

      Books       Databases     General Resources        Resources for Specific Disorders


Resources

E Books
Gale Virtual Reference Library has the 2 volume set of the Encyclopedia of Genetic Disorders
    Genetics
    Complete Human Diseases and Conditions 4 volume, 2008
    Gale Encyclopedia of Genetic Disorders  2 volumes
    Gale Encyclopedia of Children's Health  4 volumes

Online Subscription Databases
The IMC's databases are a fabulous resource for your project.  They include articles from books, magazines, scholarly journals, and newspapers.  You can also find multimedia and primary documents.Use the following:


Health Reference Center from Facts on File
Health Source- Consumer edition from Ebsco
Health Source- Nursing edition from Ebsco
MasterFile Premier from Ebsco
Science Resource Center  from Thomson/Gale

E Books
Genetics
Complete Human Diseases and Conditions 4 volume, 2008
Gale Encyclopedia of Genetic Disorders  2 volumes

Video on Demand  -  You will need to enter passwords for these - see video-on-demand brochure
Learn 360 from Gloucester County AVA
Safari Montage
United Streaming

WebCollection Plus is our online catalog; use this to locate books, videos, DVDs on your topic
Use a Power Search to locate books on specific diseases
Reference Books on Genetic Diseases
R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects
R 616.003 Hum - Human Diseases and Conditions
R 576.50 Wor - The World of Genetic Disorders

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General Resources
- start your Internet search with these sites
Search terms:  the disease and use the words genetics or heredity
Genetics Home Reference - provides information on the genetics of diseases; type in the name of your disease in the search box or browse the list; this is an excellent site
Google - this search engine's listing of genetic disorders is wonderful; it is arranged alphabetically by the disorder and you can find 99% of the assigned disorders here.
MayoClinic - reliable information on genetic disorders and diseases
Family Village - information on  specific diseases; alphabetically arranged
Genetic and Rare Conditions - sponsored by the University of Kansas Medical Center; arranged alphabetically 
The National Institute of Health - this site provides a description of the disease and a genome view of each disease or disorder; the left frame contains a list of the diseases

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Resources for Specific Disorders -  click on the letter of the alphabet of the disorder

A    B    C    D    E      G    H    I    J    K    L       

N    O    P    Q    R   S    T    U    V    W    X    Y    Z

Achromatopsia

What is Achromatopsia - fact sheet
Breaking the Color Code - this is an excellent site to learn about this disorder includes information comparing the incidences in men and women and an explanation of how we see
Discovery Health - article on this disorder

Acid Maltase Deficiency (Pompe's Disease) 
MDA - includes fact sheets' references provide research information on the genetic link - good place to start your search
Acid Maltese Deficiency Organization - includes research, meet the patients and summary of the disorder; in the "Meet the Patients" page, there are photos of people with the disease and they discuss the impact of the disease on their lives

ADD
Attention Deficit Disorder - this organization provides articles and information fact sheets
NIMH - describes symptoms, causes and treatments; also mentions a genetic link

Adrenoleukodystrophy
NIH - this site provides a brief overview of the disorder
Fact Sheet  - includes charts and graphs
Lorenzo's Oil - this movie put a face on this disease

Aicardi Syndrome
EMedicine - scholarly paper on the disorder
Aicardi Syndrome Foundation - information and a medical survey completed in 1993
Medline - definition , causes and risks, symptoms, signs and tests, treatment, and prognosis

Albinism
Albinism - this provides a description and photographs

Allergies
National Institute of Allergies and Infectious Diseases - this site provides overviews, statistics and an article on genetic connections
Allergies and Genetics - article from Dr. Koop; scroll down for specific allergies
Peanut Allergy and Genetic Link - article from about.com

Alpha-1 Antitrypsin Deficiency

Medline Encyclopedia - illustrations, definition, causes and risks, prevention, symptoms, signs and tests, treatment, prognosis and complications; excellent site.
Medicine Net - this site includes a myriad of information; it also has diagrams
Alpha 1 Organization - click on what is alpha 1 for information

Androgen Insensitivity Syndrome 
Testicular Feminization - includes illustrations, definition, causes, symptoms, treatment and prognosis

Apert Syndrome
What is Apert Syndrome - includes a definition, features and a very good explanation of the genetic link
Andrew's Journey - this is a personal account a child with this disorder. It also includes other personal accounts; this is an excellent site for learning about the personal impact of this disorder 

Arrhythmogenic Right Ventricular Dysplasia
ARVD - this site contains news (see reference)  about the disorder and information on its diagnosis
Cardiomyopathy - article from the Cardiomyopathy organization

Ataxia Telenagiectasia
Children's Project - information, inheritance and diagnosis
Questions and Answers - from the National Institute of Health

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Blue Rubber Bleb Nevus Syndrome
Medicine.com - this is an article written for doctors that describes the disorder

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Canavan Disease(Leukodystrophy)
The Canavan Foundation - explanation of the disease

Cerebella Ataxia
Medical Encyclopedia - includes a definition, symptoms, diagnosis and treatment

Color Blindness
Eye Conditions - overview
Red-Green Color Blindness - examines the genetic link and includes graphics
Male Color Blindness - article from HHMI

Cooley's Anemia (thalassemia)
Cooley Anemia Foundation - includes facts on the disorder and personal profiles
Joint Center for Sickle Cell and Thalassemia Disorders - includes information on thalassemia and its transmission
Medline - this article includes symptoms, causes and risks, prognosis and illustrations

Cry due chat syndrome
Medline article - includes definition, causes and risks, prevention, symptoms, treatment, prognosis 

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Diabetes
American Diabetes Association - be sure to click into their links about the disease, research and prevention
The Genetics of Diabetes - excellent information
American Diabetes Association - research on diabetes and human genome

Durum's Disease (adipose dolorous)
Article from Emerging Worlds - includes the history of the disorder, treatments and symptoms
Article from Medline - includes definition, causes and risks, prevention, symptoms, treatment and prognosis
Personal Stories about the disorder

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Edward's Syndrome
Baby World - this brief articles describes the causes of this disorder
Medline - article includes definition, causes and risks, prevention, symptoms, treatment and prognosis

Epilepsy
Epilepsy Foundation - information site with overviews and research articles
CarpeDB - this is a database of information about genetics and epilepsy

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Franconia Anemia
Franconia Anemia Home Page - scroll down for links to information on the disease
Online Medallion Database  - includes description, clinical features, inheritance, mapping diagnosis and molecular genetics

Fibrodysplasia Oossificans Progressive
E-Medicine - very detailed article on this disorder; includes photos

Fragile X Syndrome
Gene Clinic - University of Washington; includes summary, diagnosis, clinical description, genetics, resources, and references
Conquer Fragile X - read about the lives of children who have this disorder; information on the disorder
FREDA Foundation - symptoms, cause, inheritance, prevalence, testing and treatment

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Galactosemia
Galactosemia Handbook - this guide for parents was developed by the Texas Department of Health

Gauche Disease
National Gauche Disease Foundations - this site provides information on the disorder's treatment, prevalence, symptoms and research
Gauche Research Fund - read personal accounts of children who are battling this disease
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Hemochromatosis
Merck Manual - looks at the disorder's symptoms, treatment and prognosis
American Heochomatosis Society - interesting article on the Celtic connection to this disorder

Hemophilia
National Hemophilia Organization

Huntington's Disease
International Huntington Association - excellent site for an explanation of this disorder
Huntington's Disease Society of America - includes information, Fans, and publications from its Family Guide Series including genetic testing, copying with, introduction
 

Hurler Syndrome
Medline Encyclopedia - alternative names, definition, causes and risks, prevention, symptoms, treatment and prognosis

Hypophosphatasia
Online Mendalian Database - text describes the disease; also includes clinical symptoms
Hypophosphatasia Database - provides definition, mutations and links

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Krabbes Disease

Krabbe's Kids - read the personal stories of children with this disorder

Long QT Syndrome 
Heart Center - definition, symptoms, diagnosis and treatment
QT Syndrome - information on the disease
QT Society - FAQs, history and genetic basis
Genes and Diseases Database - brief overview

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Marfan Syndrome
Genes and Diseases Database - overview of the disorder
Children's Heart Institute - use the menu to find out about causes of the disorder and its impact on the heart skeleton, and eye; includes images

Mobius Syndrome
HealthLink - brief article on this disorder

Muscular Dystrophy
MDA Organization - the disease page discusses the various type of neuromuscular diseases; be sure to click on the Research tab at the top of the page for more information
Duchenne and Becker types - discusses genetic link with muscular dystrophy

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Neurofibromatosis
Neurofibromatosis Homepage - provides support for families with NF

Niemann-Pick Disease
National Niemann-Pick Disease Foundation
- excellent website with information about the foundation and the disease, support for families, education and links to other sites.
Niemann-Pick Disease - A NIH site which offers educational, support and fundraising.

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Osteogenesis Imperfecta
The Osteogenesis Imperfecta Clinic - defines the disease, its cause and quality of life with people with OI.
Osteogenesis Imperfecta - a personal website which raises questions as to whether this is solely a genetic disease or one that may be linked to nutrition and the environment.

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Porphyria
Porphyria - description and links to national foundations.
Prophyria - chemical injuries and Prophyria

Prader-Willi Syndrome
Description of Prader-Willi Syndrome -  from Medline
PWSA Homepage - questions and answers about Prader-Willi Syndrome.

Progeria

Progeria Research Foundation - this is an excellent site for information about the disorder

Proteus Syndrome
Proteus Foundations - for information click on glossary, signs of and article abstracts
Pediatrics - history, symptoms, clinical prognosis

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Retinoblastoma
Genes and Diseases - describes genetic basis for the disease
MedNews - medical article on the disorder

Rheumatoid Arthritis
Rheumatoid Arthritis Organization - provides an overview, causes, symptoms, treatment and article on who gets it? Discusses genetic markers
Genetic Variations - this article is from NIAMS

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Smith Magenis Syndrome
Baylor University - definition, clinical and behavioral features, diagnosis, 
Special Child Zone - information on the disorder and personal stories

Stickler Syndrome
Stickler Involved People - national organization for this disorder; includes medical information, definition and recent research
Gene Clinics - scroll down for information which includes definition, genetic testing and treatment
UK Stickler Syndrome Organization - the article is clearly written and provides up-to-date information 
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Tourette's Syndrome
Tourette's - FAQs and treatment
Neuroscience for Kids - definition, facts, causes, treatment and a list of famous people with the disorder
Tourette's  Syndrome Association - background, treatment and research news
Internet Mental Health - European and American definitions plus resources

Tuberous Sclerosis
Tuberous Sclerosis
- information from the National Association of Neurological Disorders and Stroke.
Tuberous Sclerosis - information from American Academy of Family Physicians on how to recognize and treat the disease.
Tuberous Sclerosis
- Fact Sheet
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Wilson's Syndrome
Wilson's Syndrome - Q&A about Wilson's Syndrome also known as Wilson's Thyroid Syndrome.
Wilson's Syndrome
- account of the disease and the people who are susceptible to it.
 

William's Syndrome
William's Syndrome - Facts about the syndrome from the William's Syndrome Association.
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