DISEASE DIRECTORY

Monday, September 08, 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

  • International Joseph Disease Foundation - Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease.
  • Machado-Joseph Disease Fact Sheet - Developed by the National Institute of Neurological Disorders and Stroke (NINDS).
  • Machado-Joseph Information - A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research.
  • MJD Fact Sheet - In depth look at machado-joseph disease with some resources for further reading.
  • MJD: Getting Help - Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality.
  • NORD: Pseudoxanthoma Elasticum - Offers a general discussion and resources for PXE.
  • Pediatric Database - In depth look at this machado-joseph disease, starting with a definition, epidemiology, pathogenesis, clinical features, investigation and management.