Genetic Disorders and Traits
Books Databases
General Resources
Resources for Specific Disorders
Books
There are many books on these various genetic disorders found in the general
collection; use the OPAC to locate them. You can also find books in the
reference section:
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
Online Databases - these are excellent source of
online books, magazines, newspapers, fact sheets and scholarly journals
These sources are up-to-date.
These can be accessed from the desktop of the IMC computers and from
home from the IMC's home page - you will need a user ID and password
Ebscohost - MasterFile Premier and Health Source - Consumer Edition
Gale Group - Student Resource Center: Science
Facts on File - Science
Proquest - AP Science
Top of Page
General Resources - start here for information
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
Ask
NOAH - this is a fabulous site for information on genetic disorders
Health Web - educational site for health
information
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
Top of Page
Resources for Specific Disorders - click on the letter of the alphabet of the disorder
Achromatopsia
Achromatopsia
Home Page - one-stop shopping for information on this genetic disorder
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
HealthLink
- article on color blindness
National
Center for Biotechnology - complete information 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
Adrenoleukodystrophy
Health Topics -
includes definition, descriptions, causes, symptoms, diagnosis, treatment and prognosis
NIH - this site
provides a brief overview of the disorder
ALD - provides a definition,
genetic information and diagnosis
Fact Sheet - includes charts
and graphs
Lorenzo's
Oil - this movie put a face on this disease
Albinism
Albinism - this provides a
description and photographs
International Albinism Center - this
is an excellent site that provides fact sheets; it even includes information for
student research project (scroll down for these links)
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
Alpha-1 Antitrypsin Deficiency
Understanding
the Disorder - from the National Institute of Health; includes the risk
factors and prognosis
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
AIS -
this site from the National Institute of Health is technical, but provides some
excellent information
Testicular
Feminization - includes illustrations, definition, causes, symptoms,
treatment and prognosis
Apert Syndrome
Article
from OMIM Home Page - includes description and genetic basis
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
Meghan - learn
about a family's struggle with this disorder
Cardiomyopathy
- article from the Cardiomyopathy organization
Ataxia Telenagiectasia
Children's Project - information, inheritance
and diagnosis
Meet Patrick - article from an Austin,
Texas newspaper about a boy living with this disorder
Questions and Answers - from
the National Institute of Health
Blue Rubber Bleb Nevus Syndrome
Blue Rubber Bleb Nevus
Syndrome - this site from the University of Texas Southwestern Medical
Center is one shop stopping for information on this disorder; include information,
diagnosis, clinical signs, research and treatment
Medicine.com - this is
an article written for doctors that describes the disorder
Top of the Page
Canavan Disease(Leukodystrophy)
The Canavan Foundation -
explanation of the disease
Cerebella Ataxia
Medical
Encyclopedia - includes a definition, symptoms, diagnosis and treatment
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
Online Medallion
Inheritance - description, clinical features, molecular genetics
and references
Medline
article - includes definition, causes and risks, prevention, symptoms,
treatment, prognosis
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
Edward's Syndrome
Baby
World - this brief articles describes the causes of this disorder
Pediatric
Database - includes definition and description of malformations
Medline
- article includes definition, causes and risks, prevention, symptoms, treatment
and prognosis
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
Hope for Henry - a personal story about a
little boy's struggle with the disease
Fibrodysplasia Oossificans Progressive
E-Medicine - very
detailed article on this disorder; includes photos
Fragile X Syndrome
National Fragile X Syndrome
Foundation - site includes information on research, definition, causes and
characteristics of the disorder
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
Online Medallion
Database - description, inheritance, mapping, genetics, diagnosis,
and history
Galactosemia
Parents of Galactosemia
Children - this site provides information on the disorder, its
history; be sure to click on Student Research Information for some excellent
information.
Galactosemia Handbook
- this guide for parents was developed by the Texas Department of Health
Gauche Disease
National Institute of
Health - article examines current issues and treatment
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
Top of Page
Hemochromatosis
Merck
Manual - looks at the disorder's symptoms, treatment and prognosis
Iron Institute -
provides an overview of the disorder
American Heochomatosis Society -
interesting article on the Celtic connection to this disorder
Hemophilia
National Hemophilia
Organization -
World
Federation of Hemophilia - Fans about the disorder
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
Fact Sheet - basic
information
Hurler Syndrome
Yahoo Health - definition,
alternate names, causes, incidence and risk factors
OMIT Database - description, clinical features, inheritance, diagnosis,
references
Medline
Encyclopedia - alternative names, definition, causes and risks, prevention,
symptoms, treatment and prognosis
Hypophosphatasia
National Institute of Health
- provides information on this rare genetic bone disease
Canadian
Hypophosphatasia Society - a very good definition of the disorder
Online
Mendalian Database - text describes the disease; also includes clinical
symptoms
Magic Foundation - from
the Shriner's Hospital; includes definition, prevalence and prognosis
Hypophosphatasia Database -
provides definition, mutations and links
Krabbes Disease
Yahoo Health
- definition, causes, risk factors and symptoms
Krabbes Foundation - definition,
treatment and prognosis, but also includes personal stories (click on family
stories)
Krabbe's Kids - read the personal stories
of children with this disorder
Langer-Giedion Syndrome (
Trichorhinophalangal Syndrome Type II)
Online
Mendalian Database - description of the disease including clinical symptoms
Basic Information - written
without technical language
Chromosome - image of chromosome
8
Leukodystrophy Deficiency
Leukodystrophy Foundations
- description of the disorder
Metachromatic
Leukodystrophy - from the OMIM database
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
Top of Page
Marfan Syndrome
Marfan
Syndrome
- this is an excellent site; one stop shopping for information on
this disorder
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
Mucopolysaccharidosis
Yahoo Health
- brief description
National
Library of Medicine - describes the disorder, symptoms, and alternative
names
Top of Page
Nail Patella Syndrome
Eye
Conditions - definition, symptoms, treatment and clinic information
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.
Osteogenesis Imperfecta
The Osteogenesis Imperfecta Clinic - defines the disease, its cause and
quality of life with people with OI.
Osteogenesis Imperfecta - definitions and descriptions of the four types of
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.
Top of Page
Patau's Syndrome
Patau's Syndrome - definition and support
Polydactyly - photo of infant's hand
Polydactyl - photo
Porphyria
Porphyria
- description and links to national foundations.
Prophyria -
chemical injuries and Prophyria
Prader-Willi Syndrome
Description of Prader-Willi Syndrome - From Pregnancy to birth and
beyond.
Prader-Willi Syndrome Q & A - sponsored by the Prader-Willi Syndrome
Association.
PWSA Homepage - questions and answers about Prader-Willi Syndrome.
Progeria
Progeria Research Foundation -
this is an excellent site for information about the disorder
Hutchinson-Gilford Progeria Research
Center - check out the links section of this site; it contains many personal
stories
Online
Mendelian Database - technical article on the disorder
Yahoo Health -
overview, treatment and images
Proteus Syndrome
Proteus Foundations - for
information click on glossary, signs of and article abstracts
Online
Mendelian Database - technical article on the disorder; click on text
DOIA
- this site includes a definition of the disease, alternative names, images and
diagnosis; use the menu bar to access this
Pediatrics - history,
symptoms, clinical prognosis
Retinoblastoma
Yahoo Health
- overview, signs and symptoms, treatment and images
Gene Clinic - scroll down for the information; gives the genetic connection to
the disorder
Genes and
Diseases - describes genetic basis for the disease
MedNews
- medical article on the disorder
Eye
Care Center - gives basics on the disorder
Schwachman Syndrome
Smith Magenis Syndrome
Online
Mendelian Database - click on text to read an article about this disorder
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
Top of Page
Thrombocytopenia Absent Radius Syndrome (TAR)
Online
Mendelian Database - click on text to read the article
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
Triple X Syndrome
Triple X Syndrome
Triple X Syndrome - and females
Triple X Syndrome - sex chromosomes and genetic conditions.
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
Top of Page
Urea Cycle Disorder
Vancouver
Hospital - definition, inheritance factors, treatment and resources
Wilson's Syndrome
Symptoms of Wilson's Syndrome -
an in-depth look at this disease; includes diagnosis, treatment
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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