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Category Index of Genetic Disorders

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Genetic Disorders

Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome
Alagille Syndrome Alkaptonuria Alpha-1 Antitrypsin Deficiency
Batten Beckwith-Wiedemann Syndrome Coffin Lowry Syndrome
Costello Syndrome Cowden Syndrome Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome Cystic Fibrosis DiGeorge Syndrome
Down Syndrome Dubowitz Syndrome Ectodermal Dysplasia
Epidermolysis Bullosa Familial Hypercholesterolemia Fatty Oxidation
Floating-Harbor Syndrome Fragile X Syndrome Glutaricaciduria
Hailey-Hailey Disease Hemihypertrophy Hemochromatosis
Hereditary Angioedema Hereditary Spastic Paraplegia Incontinentia Pigmenti
Joubert Syndrome Klinefelter Syndrome Laurence-Moon Syndrome
Lesch-Nyhan Syndrome Lowe Syndrome Machado-Joseph
Mannosidosis McArdle's Meckel-Gruber Syndrome
Mobius Syndrome Nail Patella Syndrome Noonan Syndrome
Opitz Syndrome Organizations Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome Personal Pages Popliteal Pterygium Syndrome
Prader-Willi Syndrome Propionic Acidemia Proteus Syndrome
Prune Belly Syndrome Pseudoxanthoma Elasticum Robinow Syndrome
Russell Silver Syndrome Sanfilippo Syndrome Schizencephaly
Shwachman Syndrome Sirenomelia Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome Soto's Syndrome Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome Trichothiodystrophy Turner Syndrome
Urea Cycle Usher Syndrome Velo-Cardio-Facial Syndrome
Von Hippel-Lindau Waardenburg Syndrome Weaver Syndrome
Williams Syndrome Xeroderma Pigmentosum Zellweger Syndrome





A3243G
Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.

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.

Dr. Greene's HouseCalls
A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

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.

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.

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.

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.

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.

Primary Ciliary Dyskinesia
Information on a rare congenital disease.

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.

The UDGD Spot
Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.

Washington University in St Louis
Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.

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.

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

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