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  Aarskog Syndrome
Aase Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Adie Syndrome
Adrenoleukodystrophy
Agnosia
Aicardi Syndrome
Alagille Syndrome
Alström 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
Crigler-Najjar Syndrome
Cri du Chat 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
Fibrodysplasia Ossificans Progressiva
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-Hall Syndrome
Pallister Killian Mosaic Syndrome
Pemphigoid
Pemphigus
Phenylketonuria
  Pick Disease of the Brain
POEMS Syndrome
Pierre Robin 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-Magenis Syndrome
Smith Lemli Opitz 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
Trichothiodystrophy
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


Cherubs
A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.

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.

Human Growth Foundation
Information about growth-related disorders through education, research, and advocacy. Member driven organization.

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.

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.

Tetrahydrobiopterin
Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.

Fibrous Dysplasia Support Online
For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.

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.

Fibrosing Mediastinitis
The least common, but most severe, late complication of histoplasmosis. Educational and research information. Includes interviews, patient stories, and a community forum.


Health: Conditions and Diseases: Genetic Disorders






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