Genetic Disorders

• Aarskog Syndrome
• Aase Syndrome
• Ablepharon-Macrostomia Syndrome
• Acoustic Neuroma@
• Adie Syndrome@
• Adrenoleukodystrophy
• Aicardi Syndrome
• Alagille's Syndrome
• Albinisim
• Alfi's Syndrome
• Alkaptonuria
• Alopecia Areata
• Alpha-1 Antitrypsin Deficiency@
• Alström Syndrome
• Angelman Syndrome
• Apert Syndrome
• Arthrogryposis
• Aspartylglucosaminuria@
• Ataxia@
• Autism@
• Bardet-Biedl Syndrome@
• Barth Syndrome
• Batten Disease
• Beckwith-Wiedemann Syndrome
• Bloom Syndrome@
• Branchiootorenal Syndrome@
• Canavan@
• Celiac@
• Cerebrocostomandibular Syndrome
• Charcot-Marie-Tooth@
• Choroideremia@
• Cleidocranial Dysplasia
• Cockayne Syndrome@
• Coffin Lowry Syndrome
• Cohen Syndrome@
• Congenital Adrenal Hyperplasia@
• Congenital Lactase Deficiency@
• Congenital Pain Insensitivity@
• Cornea Plana Congenita@
• Corneal Dystrophies@
• Cornelia De Lange Syndrome@
• Costello Syndrome
• Cowden Syndrome

• Craniofrontonasal Dysplasia
• Cri du Chat Syndrome@
• Crigler-Najjar Syndrome
• Currarino Syndrome@
• Cystic Fibrosis
• Cystinosis
• DiGeorge Syndrome
• Down Syndrome@
• Dubowitz Syndrome
• Dwarfism@
• Ectodermal Dysplasia
• Ehlers-Danlos Syndrome@
• Epidermolysis Bullosa
• Familial Benign Pemphigus@
• Familial Dysautonomia@
• Familial Hypercholesterolemia@
• Familial Mediterranean Fever@
• Fanconi Anemia@
• Fanconi Syndrome@
• Friedreich's Ataxia@
• Fuchs' Endothelial Dystrophy@
• Galactosemia@
• Gaucher Disease@
• Gilbert Syndrome@
• Glutaricaciduria I@
• Glycogen Storage Disease Type II@
• Hallervorden-Spatz Syndrome@
• Hemochromatosis
• Hemophilia@
• Hereditary Angioedema@
• Hereditary Spastic Paraplegia@
• Homocystinuria@
• Huntington's Disease@
• Hydrocephalus@
• Incontinentia Pigmenti@
• Jacobsen Syndrome@
• Joubert Syndrome@
• Klinefelter Syndrome@
• Leigh's@
• Menkes' Syndrome@
• Mucolipidoses@
• Muscular Dystrophies@
• Myotonic Dystrophy@

• Pallister Hall Syndrome
• PEHO Syndrome@
• Phenylketonuria@
• Prader-Willi Syndrome
• Primary Hyperoxaluria@
• Progeria@
• Proteus Syndrome@
• Prune Belly Syndrome
• Pseudoxanthoma Elasticum@
• Refsum@
• Retinoschisis@
• Rett Syndrome@
• Robinow Syndrome
• Rubinstein-Taybi Syndrome@
• Sanfilippo Syndrome
• Shwachman Syndrome
• Sickle Cell Anemia@
• Sirenomelia@
• Smith Lemli Opitz Syndrome@
• Smith-Magenis Syndrome@
• Soto's Syndrome@
• Spinal Muscular Atrophy@
• Stickler's Syndrome@
• Tay-Sachs@
• Thalassemia@
• Thrombocytopenia
• Tourette Syndrome@
• Treacher Collins Syndrome@
• Trichothiodystrophy@
• Tuberous Sclerosis@
• Turner Syndrome
• Tyrosinemia@
• Usher Syndrome
• VACTERL Association
• Von Hippel-Lindau
• Waardenburg's Syndrome
• WAGR Syndrome@
• Williams Syndrome
• Wilson's Disease@
• Wolf-Hirschhorn Syndrome
• Xeroderma Pigmentosum
• Zellweger Syndrome

• Blogs@
• By Region

• Genetics Home Reference  - Comprehensive online guide to understanding genetic disorders and diseases. Includes a handbook and glossary.
• National Human Genome Research Institute  - Find information about rare and genetic diseases, and research. Includes fact sheets, education modules for teachers, and links to further resources.
• Nature Scitable: Genes and Diseases  - Learn about the relationship between genes and disease.