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Genetic Disorders Project Resources

The genetic disorders from the list your teacher gave you appear in alphabetical order below. Each disorder  has one or more links to information. A list of some reliable, general sources for information on genetic diseases is located just below.

The Gale Encyclopedia of Genetic Disorders - Updated in 2010 -This is an e-book from Gale Virtual Reference Library - high quality, organized information on various genetic diseases. This site requires the Gale Virtual Reference Library password -  if you try to use it from home, get the password sheet from the library.

Genetics Disorder Library - Learn Genetics - University of Utah - has many good charts and illustrations - Free access

Genetics Home Reference (from the National Institute of Health) Overview of many genetic disorders written for the lay person  - Free access

Medline Plus (from the National Library of Medicine) Many types of medical information and links to other sources - Free access


Genes and Disease - e-Book from the National Institute of Health - Clickable links to human chromosome maps at the top of the page. These will take you to a map of the chromosome and the locations of the diseases associated with it. You can also get descriptions of various genetic diseases if you know which body system is affected. (List is on the left side of the page.) Free access

Chromosome Maps from the site listed above

Glossary of Genetic Terms (National Institute of Health) "The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research. Simply click on the term of interest to open a page with a wealth of information, including the term's pronunciation, audio information, images and additional links to related terms. Students, teachers and parents will find the glossary an easy-to-use, always available learning source on genetics." Free

Gene Reviews (University of Washington) Database of genetic disorders, somewhat technical. Free.
Alphabetical ListNote: If you are asked for a password from any of the Gale products listed below, such as Encyclopedia of Genetic Disorders, use the Gale Virtual Reference Librarypassword. (See top of page for directions to TuHS password sheet.)

Achondroplasia
Achondroplasia-Encyclopedia of Genetic Disorders 
Achondroplasia - Medline Plus 
Achondroplasia - Genetics Home Reference (National Institute of Health)

Albinism
Albinism - Encyclopedia of Genetic Disorders 
Albinism - Medline Plus
Oculocutaneous albinism Genetics Home Reference (National Institute of Health)

Alcoholism
Alcoholism - Encyclopedia of Genetic Disorders
Unravelling the Genetics of Alcoholism - Saturday Evening Post in Infotrac - Gale Infotrac password 
Alcohol Metabolism - NIAAA 
The Genetics of Alcohol Metabolism - Alcohol Research & Health in Infotrac (Note: Difficult article. Skip down and read the summary if the details get to be too much for you. It gives the names of the genes involved.)

Alkaptonuria
Alkaptonuria - Encyclopedia of Genetic Disorders
Alkaptonuria - Genetics Home Reference (National Institute of Health)

Alzheimers
Alzheimer Disease - Encyclopedia of Genetic Disorders 
Alzheimers Genetics Home Reference (National Institute of Health)
Alzheimers Disease - Learn Genetics (University of Utah)

Angelman syndrome 
Angelman syndrome - Encyclopedia of Genetic Disorders 
Angelman syndrome Genetics Home Reference (National Institute of Health)

Asperger's Syndrome
Asperger's Syndrome - Encyclopedia of Genetic Disorders 
Asperger Disorder - Complete Human Diseases and Conditions 
Asperger's Syndrome Genetics Home Reference (National Institute of Health)
Asperger's Syndrome - Medline plus
Other links to Asperger's Syndrome information- Medline plus and the National Institute of Helath

Autism
Autism - Encyclopedia of Genetic Disorders 
Autism Genetics Home Reference (National Institute of Health)
Autism Speaks - Organization with educational informaion for families, etc.

Breast Cancer
Breast Cancer- Encyclopedia of Genetic Disorders
Breast and Ovarian Cancer - Learn Genetics - University of Utah (emphasis on BRCA1 and BRCA2 mutations) 
Breast Cancer Genetics Home Reference (National Institute of Health)
Breast Cancer: A Family Disease - Cracking the Code - Nova

Canavan Disease 
Canavan Disease - Encyclopedia of Genetic Disorders 
Canavan Disease Genetics Home Reference (National Institute of Health)

Charcot-Marie Tooth Disease 
Charcot-Marie tooth disease - Encyclopedia of Genetic Disorders 
Charcot-Marie tooth disease Genetics Home Reference (National Institute of Health)

Cleft Lip and Palate 
Cleft Lip and Palate - Encyclopedia of Genetic Disorders
Cleft Lip and Palate Genetics Home Reference (National Institute of Health) (Note: As there are different reasons for a baby to be born with a cleft lip and/or palate, this site lists and describes them.)
Cleft Palate - The Complete Human Diseases and Conditions (e-book from Gale)

Colorblindness
Colorblindness - Encyclopedia of Genetic Disorders 
Colorblindness Genetics Home Reference (National Institute of Health)

Cri-du-chat Syndrome 
Cri-du-chat Syndrome - Encyclopedia of Genetic Disorders
Cri-du-chat Syndrome - Learn Genetics - University of Utah 
Cri-du-chat Syndrome Genetics Home Reference (National Institute of Health)

Cystic Fibrosis 
Cystic Fibrosis - Encyclopedia of Genetic Disorders 
Cystic Fibrosis - Learn Genetics - University of Utah
Cystic Fibrosis - Cracking the Code of Life - Nova (to view, sign up for free account)
Cystic Fibrosis Genetics Home Reference (National Institute of Health)

Down Syndrome 
Down Syndrome - Encyclopedia of Genetic Disorders
Down Syndrome - Learn Genetics - University of Utah 
Down Syndrome Genetics Home Reference (National Institute of Health)

Duchenne Muscular Dystrophy 
Duchenne Muscular Dystrophy - Encyclopedia of Genetic Disorders
Duchenne Muscular Dystrophy Genetics Home Reference (National Institute of Health)

Edward's Syndrome (Trisomy 18) 
Trisomy 18 or Edwards Syndrome - Encyclopedia of Genetic Disorders
Edward's syndrome (trisomy 18) Genetics Home Reference (National Institute of Health)

Epidermolysis
Epidermolysis bullosa - Encyclopedia of Genetic Disorders 
Epidermolysis Genetics Home Reference (National Institute of Health)

Fanconi anemia 
Fanconi anemia- Encyclopedia of Genetic Disorders
Fanconi anemia Genetics Home Reference (National Institute of Health)

Fragile X Syndrome 
Fragile X Syndrome - Encyclopedia of Genetic Disorders
Fragile X Syndrome - National Fragile X Foundation
Fragile X Syndrome Genetics Home Reference (National Institute of Health)

Galactosemia
Galactosemia - Encyclopedia of Genetic Disorders 
Galactosemia - Learn Genetics - University of Utah
Galactosemia Genetics Home Reference (National Institute of Health)

Glucose-6-Phosphate Dehydrogenase Deficiency 
Glucose 6Phosphate Dehydrogenase Deficiency - Medline plus 
Glucose 6Phosphate Dehydrogenase Deficiency Genetics Home Reference (National Institute of Health)

Hartnup's Disease
Hartnup's Disease - Gale Health and Wellness Resource Center 
Hartnup Disease Gale Encyclopedia of Medicine
Hartnup's Disease - e-Medicine

Hemophilia 
Hemophilia - Encyclopedia of Genetic Disorders
Hemophilia - Complete Human Diseases and Conditions e-Book
Hemophilia Genetics Home Reference (National Institute of Health)

Huntington's Disease 
Huntington's Disease - Encyclopedia of Genetic Disorders
Huntington's Disease - Learn Genetics - University of Utah
Huntington's Disease - Complete Human Diseases and Conditions e-Book
Huntington's Disease Genetics Home Reference (National Institute of Health)

Hypothyroidism 
Congenital Hypothyroid Syndrome - Encyclopedia of Genetic Disorders
Congenital Hypothyroid Syndrome - Genetics Home Reference 
Hypothyroidism - Learn Genetics - University of Utah

Immune Deficiency Disease (Bubble Boy) 
Severe Combined Immune Deficiency Disease (boy in the bubble) - Encyclopedia of Genetic Diseases
Severe Combined Immune Deficiency Disease (boy in the bubble) - Learn Genetics - University of Utah
Immune Deficiency Disease (boy in the bubble) - Genetics Home Reference
Immune Deficiencies (use info for primary deficiencies) - Complete Human Diseases and Conditions e-Book
Severe combined immunodeficiency - Genes and Disease (National Institute of Health)

Joubert Syndrome
Joubert Syndrome - Encyclopedia of Genetic Disorders
Molar Tooth  Sign - photos of this diagnostic feature
Joubert Syndrome - Gene Reviews (Scroll down a bit to see the article.)

Klinefelter's Syndrome 
Klinefelter's Syndrome - Encyclopedia of Genetic Disorders
Klinefelter's Syndrome - Learn Genetics - University of Utah
Klinefelter's Syndrome Genetics Home Reference (National Institute of Health)

Maple Syrup Urine Disease
Maple Syrup Urine Disease - Learn Genetics - University of Utah 
Maple Syrup Urine Disease - Gale Encyclopedia of Diets 
Maple Syrup Urine Disease - Medline plus 
Maple Syrup Urine Disease Genetics Home Reference (National Institute of Health)

Marfan Syndrome 
Marfan Syndrome -Encyclopedia of Genetic Disorders
Marfan Syndrome -Complete Human Diseases and Conditions e-Book
Marfan Syndrome Genetics Home Reference (National Institute of Health)

Menkes Syndrome
Menkes Syndrome - Encyclopedia of Genetic Disorders
Menkes Syndrome Genetics Home Reference (National Institute of Health)

Mitochondrial Myopathy 
Mitochondrial Myopathy - PDF file will open up at this link - Muscular Dystrophy Association 
Leigh Syndrome (one type of Mitochondrial Myopathy) - Encyclopedia of Genetic Disorders 
What is Mitochondrial Disease? - United Mitochondrial Disease Foundation Frequently Asked Questions - UMDF

Nail Patella Syndrome 
Nail Patella Syndrome - Encyclopedia of Genetic Disorders
Nail Patella Syndrome 
- Genetics Home Reference
Nail Patella Syndrome
- Gale Encyclopedia of Medicine

Oral Facial Digital Syndrome 
Oral Facial Digital Syndrome - Encyclopedia of Genetic Disorders
OFD1 - Genetics Home Reference

Osteogenesis imperfecta 
Osteogenesis imperfecta - Encyclopedia of Genetic Disorders
Osteogenesis imperfecta Genetics Home Reference (National Institute of Health)

Parkinson's Disease
Parkinson's Disease - Encyclopedia of Genetic Disorders
Parkinson's Disease Genetics Home Reference (National Institute of Health)

Phenylketonuria
Phenylketonuria - Encyclopedia of Genetic Disorders
Phenylketonuria - Learn Genetics - University of Utah
Phenylketonuria - Complete Human Diseases and Conditions e-Book
Phenylketonuria Genetics Home Reference (National Institute of Health)

Prader-Willi Syndrome
Prader-Willi syndrome - Encyclopedia of Genetic Disorders
Prader-Willi syndrome Genetics Home Reference (National Institute of Health)

Polydactyly
Polydactyly - Medline Plus
Short rib polydactyly - a lethal form of polydactyly - Encyclopedia of Genetic Disorders 
Polydactyly Genetics Home Reference (National Institute of Health)

Rett Disorder 
Rett Syndrome - Encyclopedia of Genetic Disorders
What is Rett Syndrome? - International Rett Syndrome Foundation
Rett Syndrome Genetics Home Reference (National Institute of Health)Sickle-cell anemia 

Sickle-Cell Anemia
Sickle-cell disease - Encyclopedia of Genetic Disorders
Sickle-cell disease - Learn Genetics - University of Utah
Sickle-cell anemia - Complete Human Diseases and Conditions
Sickle-cell anemia Genetics Home Reference (National Institute of Health)

Skin Cancer 
Malignant Melanoma Medline 
Genetics of Melanoma American Society of Clinical Oncology
MC1R -  Genetics Home Reference (Information about the gene that is linked to Melanoma skin cancer) 
Nevoid Basal Cell Carcinoma - Encyclopedia of Genetic Diseases

Smith-Lemli-Opitz Syndrome (SLOS) 
Smith-Lemli-Opitz -  Encyclopedia of Genetic Disorders
Smith-Lemli-Opitz - Learn Genetics - University of Utah
Smith-Lemli-Opitz - Genetics Home ReferenceSpina bifida - Anencephaly (Neural Tube Defects)
Spina bifida - - Encyclopedia of Genetic Disorders
Neural Tube Defects - Medline Plus (has links to pages with more information about this syndrome)
Anencephaly - Encyclopedia of Genetic Disorders

Tay Sachs Disease 
Tay Sachs Disease - Encyclopedia of Genetic Disorders 
Tay Sachs Disease - "One Wrong Letter" Nova -PBS (create a free account to view this.)
Tay Sachs Disease - Medline Plus
Tay Sachs Disease Genetics Home Reference (National Institute of Health)

Turner's Syndrome 
Turner's Syndrome - Encyclopedia of Genetic Disorders
Turner's Syndrome - Learn Genetics - University of Utah
Turner Syndrome Genetics Home Reference (National Institute of Health)

Von Gierke's Disorder
Von Gierke's Disease/Type 1 GSD - Association for Glycogen Storage Diseases
Von Gierke Disease - Medline Plus
Glycogen Storage Diseases
 - Encyclopedia of Genetic Disorders- scroll down to see information specific to Von Gierke's Disease
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