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Top: Health: Conditions_and_Illness: Genetic_Disorders:	Submit Site
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@

Gilbert's 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

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

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.

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