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 Directory: Top: Health: Conditions and Diseases: Genetic Disorders (704)
Aarskog Syndrome (4)
Aase Syndrome (3)
Ablepharon-Macrostomia Syndrome (4)
Alagille Syndrome (8)
Alfi's Syndrome (2)
Alkaptonuria (4)
Alpha-1 Antitrypsin Deficiency (11)
Batten Disease (8)
Beckwith-Wiedemann Syndrome (7)
Bloom Syndrome (5)
Branchio-Oto-Renal Syndrome (6)
Coffin Lowry Syndrome (4)
Cohen Syndrome (4)
Costello Syndrome (2)
Cowden Syndrome (3)
Craniofrontonasal Dysplasia (3)
Crigler-Najjar Syndrome (7)
Currarino Syndrome (4)
Cystic Fibrosis (128)
DiGeorge Syndrome (4)
Down Syndrome (103)
Dubowitz Syndrome (3)
Ectodermal Dysplasia (6)
Epidermolysis Bullosa (17)
Familial Hypercholesterolemia (1)
Fatty Oxidation (5)
Floating-Harbor Syndrome (4)
Fragile X Syndrome (12)
Gene Therapy (69)
Genetic Testing and Counseling (24)
Genetics Education (17)
Gilbert's Syndrome (10)
Glutaricaciduria (3)
Hailey-Hailey Disease (4)
Hemihypertrophy (3)
Hemochromatosis (25)
Hereditary Angioedema (6)
Hereditary Spastic Paraplegia (7)
Human Genetics (228)
Hydrolethalus Syndrome (4)
Incontinentia Pigmenti (7)
Joubert Syndrome (7)
Klinefelter Syndrome (9)
Laurence-Moon Syndrome (3)
Lesch-Nyhan Syndrome (1)
Loeys-Dietz Syndrome (5)
Lowe Syndrome (2)
MEB Disease (2)
Machado-Joseph (3)
Mannosidosis (2)
McArdle's (1)
Meckel-Gruber Syndrome (2)
Mobius Syndrome (5)
Mulibrey Nanism (1)
Nail Patella Syndrome (5)
Nasu-Hakola Disease (3)
Noonan Syndrome (8)
Opitz Syndrome (5)
Organizations (9)
Pallister Killian Mosaic Syndrome (9)
Pallister-Hall Syndrome (3)
Personal Pages (12)
Popliteal Pterygium Syndrome (1)
Prader-Willi Syndrome (9)
Propionic Acidemia (5)
Proteus Syndrome (5)
Prune Belly Syndrome (2)
Pseudoxanthoma Elasticum (5)
RAPADILINO Syndrome (3)
Robinow Syndrome (4)
Russell Silver Syndrome (3)
Sanfilippo Syndrome (7)
Schizencephaly (1)
Shwachman Syndrome (7)
Sirenomelia (6)
Smith Lemli Opitz Syndrome (3)
Smith-Magenis Syndrome (3)
Soto's Syndrome (5)
Sturge-Weber Syndrome (4)
Support Groups (27)
Thrombocytopenia Absent Radius Syndrome (3)
Trichothiodystrophy (9)
Turner Syndrome (13)
Urea Cycle (2)
Usher Syndrome (2)
Velo-Cardio-Facial Syndrome (5)
Von Hippel-Lindau (4)
Waardenburg Syndrome (2)
Weaver Syndrome (2)
Williams Syndrome (17)
Wolf-Hirschhorn Syndrome (8)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)
 Related Categories
Health: Conditions and Diseases: Congenital Anomalies
Health: Conditions and Diseases: Rare Disorders
 Related Web Pages
Primary Ciliary Dyskinesia
Information on a rare congenital disease.
http://www.p-c-d.org/en/

Gene Clinics
Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
http://www.geneclinics.org

Genetic and Rare Conditions
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
http://www.kumc.edu/gec/support/

XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
http://www.xlhnetwork.org

Genetic Disorders: The Links to Diet
Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
http://www.ctds.info/genetic_disorders.html

Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
http://www.ygyh.org

Blepharophimosis Ptosis Epicanthus Inversus Syndrome
The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
http://freespace.virgin.net/andy.bowles/

IMMD Institute of Medical Molecular Diagnostics Ltd.
The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
http://www.immd.de/

The Center For Jewish Genetics Disorders
A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
http://www.jewishgeneticscenter.org/

New Scientist: Heroin Addiction Gene Identified and Blocked
Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
http://www.newscientist.com/article.ns?id=dn7445

A3243G
Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
http://www.a3243g.com/

Information on Trisomy 13
Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614

What malformation did El Greco paint?
El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html

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