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Top Level : Conditions and Diseases : Genetic Disorders

Categories:

Aarskog Syndrome (1)

Aase Syndrome (1)

Ablepharon-Macrostomia Syndrome (1)

Alagille Syndrome (2)

Alkaptonuria (1)

Alpha-1 Antitrypsin Deficiency (2)

Beckwith-Wiedemann Syndrome (4)

Coffin Lowry Syndrome (0)

Costello Syndrome (0)

Cowden Syndrome (1)

Craniofrontonasal Dysplasia (0)

Crigler-Najjar Syndrome (0)

Cystic Fibrosis (16)

DiGeorge Syndrome (1)

Down Syndrome (30)

Dubowitz Syndrome (0)

Ectodermal Dysplasia (3)

Familial Hypercholesterolemia (1)

Fatty Oxidation (2)

Floating-Harbor Syndrome (1)

Fragile X Syndrome (6)

Glutaricaciduria (1)

Hemihypertrophy (1)

Hemochromatosis (5)

Hereditary Angioedema (2)

Hereditary Spastic Paraplegia (3)

Incontinentia Pigmenti (1)

Joubert Syndrome (0)

Klinefelter Syndrome (3)

Laurence-Moon Syndrome (1)

Lesch-Nyhan Syndrome (0)

Lowe Syndrome (1)

Machado-Joseph (0)

Mannosidosis (0)

Meckel-Gruber Syndrome (0)

Mobius Syndrome (2)

Nail Patella Syndrome (1)

Noonan Syndrome (2)

Opitz Syndrome (1)

Organizations (5)

Pallister Killian Mosaic Syndrome (0)

Pallister-Hall Syndrome (0)

Personal Pages (2)

Popliteal Pterygium Syndrome (0)

Prader-Willi Syndrome (2)

Propionic Acidemia (0)

Proteus Syndrome (1)

Prune Belly Syndrome (1)

Pseudoxanthoma Elasticum (0)

Robinow Syndrome (1)

Russell Silver Syndrome (1)

Sanfilippo Syndrome (0)

Schizencephaly (0)

Shwachman Syndrome (2)

Smith Lemli Opitz Syndrome (0)

Smith-Magenis Syndrome (1)

Soto's Syndrome (2)

Sturge-Weber Syndrome (0)

Thrombocytopenia Absent Radius Syndrome (1)

Turner Syndrome (1)

Usher Syndrome (2)

Velo-Cardio-Facial Syndrome (1)

Von Hippel-Lindau (4)

Waardenburg Syndrome (0)

Weaver Syndrome (0)

Williams Syndrome (1)

Xeroderma Pigmentosum (2)

Zellweger Syndrome (2)

Links:

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
(Added: Mon Jan 01 2001 Hits: 124 Rating: 0.00 Votes: 0)
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Genetic and Rare Conditions Site
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/
(Added: Mon Jan 01 2001 Hits: 145 Rating: 0.00 Votes: 0)
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Non-ketotic Hyperglycinemia
A website for people (and their family and friends) affected with NKH.
http://www.nkh-network.org/
(Added: Tue Jan 18 2005 Hits: 103 Rating: 0.00 Votes: 0)
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Primary Ciliary Dyskinesia
Information on a rare congenital disease.
http://www.p-c-d.org/en/
(Added: Mon Jan 01 2001 Hits: 122 Rating: 0.00 Votes: 0)
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