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Health Directory > Conditions and Diseases > Genetic Disorders
Genetic Disorders

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Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alfis Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten Disease
Beckwith-Wiedemann Syndrome
Bloom Syndrome
Branchio-Oto-Renal Syndrome
Coffin Lowry Syndrome
Cohen Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Currarino Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Epidermolysis Bullosa
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Gilberts Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Hydrolethalus Syndrome
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Loeys-Dietz Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdles
MEB Disease
Meckel-Gruber Syndrome
Mobius Syndrome
Mulibrey Nanism
Nail Patella Syndrome
Nasu-Hakola Disease
Noonan Syndrome
Opitz Syndrome
Organizations
Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome
Personal Pages
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
RAPADILINO Syndrome
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Sirenomelia
Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Trichothiodystrophy
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
Site Listings

A3243G Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
http://www.a3243g.com/

Blepharophimosis Ptosis Epicanthus Inversus Syndrome The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
http://freespace.virgin.net/andy.bowles/

Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
http://www.geneclinics.org

Genetic and Rare Conditions Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
http://www.kumc.edu/gec/support/

Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
http://www.ctds.info/genetic_disorders.html

IMMD Institute of Medical Molecular Diagnostics Ltd. The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
http://www.immd.de/

Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614

New Scientist: Heroin Addiction Gene Identified and Blocked Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. (May 31, 2005)
http://www.newscientist.com/article.ns?id=dn7445

Primary Ciliary Dyskinesia Information on a rare congenital disease.
http://www.p-c-d.org/en/

The Center For Jewish Genetics Disorders A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
http://www.jewishgeneticscenter.org/

What malformation did El Greco paint? El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html

XLH Network Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
http://www.xlhnetwork.org

Your Genes, Your Health The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
http://www.ygyh.org


 

 

 


 

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