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Genetic Disorders

Alliance of Genetic Support Groups 

Alpha-1 Antitrypsin Deficiency (A1AD) Association 

Alpha One Foundation 

Alliance of Genetic Support Groups

Bannayan Zonana Syndrome 

Blazing a Genetic Trail 

Canadian Associaton of Genetic Counsellors (CAGC) 

Center for Inherited Disease Research - Johns Hopkins University

Center for Inherited Disorders of Energy Metabolism (CIDEM) - Case Western Reserve University 

CFC Family Network 

Chromosome 9P- Network 

Clinical Genetics: A Self Study for Health Care Provider

Dubowitz Syndrome Information & Parent Support

Familial Hypercholesterolemia treatment, prevention, and more. 

Genetic Disease Information 

Genetic Disorders treatment, prevention. - Information on treatment, prevention, diagnosis, and support groups.

Genetic Information and Patient Services, Inc (GAPS) - Links to online definitions, information sites, and support groups for genetic disorders and birth defects.

G6PD Deficiency - G6PD deficiency is the most common human enzyme deficiency in the world; it affects an estimated 400 million people worldwide.


Genes and Disease 

Genetic Disorders & Birth Defects - Sri Lanka Collection 

Genetics Education and Counseling Program -

Hed Foundation 

Hereditary Disease Foundation 

Human Gene Mutation Database 

Infantile Refsum's Disease 

International Organization of Glutaric Acidemia 

International Society for Mannosidosis & Related Diseases 

Hereditary Disease Foundation 

Human Genomics 

International Joseph Disease Foundation 

International Society for Mannosidosis & Related Diseases

Kimball Genetics - Genetic Testing in Preventive Medicine 

Late Onset Congenital Adrenal Hyperplasia 

Lowe Syndrome Association

McArdle's Disease Information Source 

Meckel Gruber Syndrome: In Memorium for Max 

Medical Genetics has a homepage 

Nail Patella Syndrome

New Zealand Lysosomal Storage Diseases Support Group

OMIM Home Page -- Online Mendelian Inheritance in Man 

Primary Ciliary Dyskinesia 

Progeria Research Foundation, Inc.

S.O.F.T. - A support organisation for parents of infants with Trisomy 13 & 18 and other related disorders.

Spiral Notebook: Short takes on CPT deficiency 

Strickler Family Homepage 

Sundowner - Information on Familial Mediterranean Fever and other diseases that affect people of Melungeon descent in America.

Taryn's World: About Switches - Personal page for kids and parents about genetic disorders, especially mannosidosis.

Urea Cycle Disorders 

Lysosomal Storage Diseases: A Family Sourcebook 

Medical Genetics 

Mucolipidosis IV Foundation 

Murdoch Institute

National Association for Psuedoxanthoma Elasticum 

National Dysautonomia Research Foundation

National Society of Genetic Counselors

Neurogenetics - Massachusetts General Hospital

Office of Genetics and Disease Prevention

OMIM: Online Mendelian Inheritance in Man 

Pseudoxanthoma Elasticum (PXE) 

Public Health Genetics Society 

Purine Metabolic Patients' Association - charity supporting families with members suffering from purine metabolic diseases.

Rare Genetic Diseases in Children 

Schiz Kidz Buddies

Smith-Lemli-Opitz Syndrome 

Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency 

Tetrasomy 18p 


Velo-Cardio-Facial Syndrome 

Xeroderma Pigmentosum Society - provides information on the disease also known as XP