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Rare Disorders

  • Aarskog Syndrome@
  • Aase Syndrome@
  • Abetalipoproteinemia@
  • Ablepharon-Macrostomia Syndrome@
  • Adie Syndrome@
  • Adrenoleukodystrophy@
  • Agnosia
  • Aicardi Syndrome
  • Alagille Syndrome@
  • Alstrom Syndrome
  • Alternating Hemiplegia@
  • Apert Syndrome@
  • Arthrogryposis@
  • Ataxia@
  • Bardet-Biedl Syndrome@
  • Barth Syndrome
  • Behcet's Syndrome@
  • Blastomycosis@
  • Botulism@
  • Celiac@
  • Cerebrocostomandibular Syndrome
  • Charcot-Marie-Tooth Disease@
  • Cleidocranial Dysplasia
  • Cockayne Syndrome@
  • Coffin Lowry Syndrome@
  • Cornelia De Lange Syndrome@
  • Corticobasal Degeneration@
  • Costello Syndrome@
  • Craniofrontonasal Dysplasia@
  • Cri du Chat Syndrome@
  • Crigler-Najjar Syndrome@
  • Cyclic Vomiting Syndrome@
  • Cystinosis
  • Dandy Walker Syndrome@
  • Degos
  • Dercum Disease@
  • DiGeorge Syndrome@
  • Dubowitz Syndrome@
  • Dystonia@
  • Ehlers-Danlos Syndrome@
  • Erythromelalgia
  • Fabry's@
  • Familial Dysautonomia@
  • Fanconi Anemia@
  • Floating-Harbor Syndrome@
  • Friedreich Ataxia@
  • Galactosemia@
  • Gaucher's@
  • Gerstmann Syndrome@
  • Glutaricaciduria@
  • Guillain-Barre Syndrome@
  • Gustatory Sweating@
  • Hallervorden-Spatz Syndrome@
  • Hemihypertrophy@
  • Hemophilia@
  • Hereditary Angioedema@
  • Hidradenitis Suppurativa@
  • Homocystinuria@
  • Horner Syndrome@
  • Huntington's@
  • Hydrocephalus@
  • Incontinentia Pigmenti@
  • Isaacs Syndrome@
  • Jacobsen Syndrome
  • Joubert Syndrome@
  • Kearns Sayre Syndrome@
  • Kernicterus@
  • Klippel-Feil Syndrome@
  • Kluver-Bucy Syndrome@
  • Laurence-Moon Syndrome@
  • Leigh's@
  • Lesch-Nyhan Syndrome@
  • Lissencephaly@
  • Lowe Syndrome@
  • Madelung's@
  • Mannosidosis@
  • Marfan Syndrome@
  • Mastocytosis@
  • Meige Syndrome@
  • Melorheostosis
  • Mobius Syndrome@
  • Moyamoya
  • Multiple Hereditary Exostoses@
  • Myotonic Dystrophy@
  • Nail Patella Syndrome@
  • Narcolepsy@
  • Neurofibromatosis@
  • Neuroleptic Malignant Syndrome@
  • Niemann-Pick@
  • Noonan Syndrome@
  • Olivopontocerebellar Atrophy@
  • Ollier Disease
  • Opitz Syndrome@
  • Osteogenesis Imperfecta@
  • Pallister Killian Mosaic Syndrome@
  • Pallister-Hall Syndrome@
  • Pemphigoid
  • Pemphigus
  • Phenylketonuria
  • Pick Disease of the Brain@
  • Pierre Robin Syndrome
  • POEMS Syndrome@
  • Porencephaly@
  • Porphyrias@
  • Prader-Willi Syndrome@
  • Progeria
  • Propionic Acidemia@
  • Proteus Syndrome@
  • Prune Belly Syndrome@
  • Pseudoxanthoma Elasticum@
  • Refsum's@
  • Retinoblastoma@
  • Rett's Syndrome@
  • Rickets@
  • Robinow Syndrome@
  • Rubinstein-Taybi Syndrome
  • Russell Silver Syndrome@
  • Sanfilippo Syndrome@
  • Schizencephaly@
  • Shwachman Syndrome@
  • Smith Lemli Opitz Syndrome@
  • Smith-Magenis Syndrome@
  • Spina Bifida@
  • Stickler's Syndrome@
  • Stiff-Person Syndrome@
  • Sturge-Weber Syndrome@
  • Subacute Sclerosing Panencephalitis@
  • Tangier@
  • Tay-Sachs@
  • Thalassemia@
  • Thrombocytopenia Absent Radius Syndrome@
  • Tourette Syndrome@
  • Treacher Collins Syndrome@
  • Tuberous Sclerosis@
  • Turner Syndrome@
  • Tyrosinemia
  • Usher Syndrome@
  • VATER Syndrome
  • Velo-Cardio-Facial Syndrome@
  • Waardenburg Syndrome@
  • WAGR Syndrome@
  • Weaver Syndrome@
  • Wegener's Granulomatosis
  • Williams Syndrome@
  • Wilson's Disease@
  • Xeroderma Pigmentosum@
  • Zellweger Syndrome@
  • Zollinger-Ellison Syndrome@

  • See also


    • National Organization for Rare Disorders, Inc.
      Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching.
    • Cherubs
      A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.
    • Contact a Family
      Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.
    • Fibrosing Mediastinitis
      The least common, but most severe, late complication of histoplasmosis. Educational and research information. Includes interviews, patient stories, and a community forum.
    • Fibrous Dysplasia Support Online
      For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.
    • Human Growth Foundation
      Information about growth-related disorders through education, research, and advocacy. Member driven organization.
    • International Rare Disease Support Network
      A community providing more than a 1000 different links to support groups for the people of all nations.
    • Kindler Syndrome
      An article and case study of this rare disease. Includes links.
    • Lymphangiomatosis and Gorham's Vanishing Bone Disease
      Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.
    • Nomid /Cinca
      Resource for parents and patients suffering from Neonatal Onset Multi-inflammatory Disease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome. Site maintained by patients, parents and friends for their counterparts worldwide. Email support group at eGroups.
    • Office of Rare Diseases
      Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.
    • Tetrahydrobiopterin
      Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
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