DISEASE DIRECTORY

Tuesday, October 07, 2008

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
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-Hall Syndrome
Pallister Killian Mosaic 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
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome

  • Australian MPS & Related Diseases Society - Informs and support those affected, directly or indirectly by an mucopolysaccharide or related disease. Offers information regarding each disease, a discussion forum, a picture gallery and news of events.
  • Cowden Syndrome - A CHORUS notecard document about this syndrome.
  • Genetic Information and Patient Services, Inc (GAPS) - Links to online definitions, information sites, and support groups for genetic disorders and birth defects.
  • Genetic Interest Group - Information about this UK umbrella group of organizations working together to improve services for people with genetic disorders. A notice board, education, services and links are provided.
  • Hereditary Disease Foundation - Information about this non profit organization, news, newsletters, recommended reading and contact details.
  • Hereditary Hemorrhagic Telangiectasia Foundation International, Inc. - Provides patients, families, and doctors with educational information and fosters an exchange of information about the diagnosis and treatment of HHT between patients, physicians, researchers, genetic counselors, agencies, educators, and the general public.
  • Lysosomal Diseases New Zealand - Information, support and advocacy for families affected by Lysosomal Storage Diseases, a group of rare genetic diseases.