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Genetic Disorders
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Conditions_and_Illness:
Genetic Disorders:
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Category Description:
Provides information about an array of genetic disorders such as Angelman Syndrome, Costello Syndrome, Batten Disease, Albinism, and more. Learn the causes, symptoms, diagnosis, and treatment methods.
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.
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