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 Health / Conditions_and_Diseases / Genetic_Disorders
Aarskog Syndrome Aase Syndrome
Ablepharon-Macrostomia Syndrome Acoustic Neuroma
Adie Syndrome Adrenal Hyperplasia
Adrenoleukodystrophy Aicardi Syndrome
Alagille Syndrome Albinism
Alfi's Syndrome Alkaptonuria
Alopecia Areata Alpha-1 Antitrypsin Deficiency
Alstrom Syndrome Angelman Syndrome
Apert Syndrome Arthrogryposis
Aspartylglucosaminuria Ataxia
Autism Bardet-Biedl Syndrome
Barth Syndrome Batten Disease
Beckwith-Wiedemann Syndrome Bloom Syndrome
Branchio-Oto-Renal Syndrome Canavan
Celiac Cerebrocostomandibular Syndrome
Charcot-Marie-Tooth Disease Choroideremia
Cleidocranial Dysplasia Cockayne Syndrome
Coffin Lowry Syndrome Cohen Syndrome
Congenital Lactase Deficiency Congenital Pain Insensitivity
Cornea Plana Congenita 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
Ellis-van Creveld Syndrome Epidermolysis Bullosa
Factor V Leiden Familial Dysautonomia
Familial Erythromelalgia Familial Hypercholesterolemia
Familial Mediterranean Fever Fanconi Anemia
Fatty Oxidation Floating-Harbor Syndrome
Fragile X Syndrome Freeman-Sheldon Syndrome
Friedreich Ataxia Fuchs' Dystrophy
Galactosemia Gaucher's
Gilbert's Syndrome Glutaricaciduria
Glycogen Storage Disease Type II GRACILE Syndrome
Hailey-Hailey Disease Hallervorden-Spatz Syndrome
Hemihypertrophy Hemochromatosis
Hemophilia Hereditary Angioedema
Hereditary Spastic Paraplegia Homocystinuria
Huntington's Hydrocephalus
Hydrolethalus Syndrome Imerslund-Grasbeck Syndrome
Incontinentia Pigmenti Jacobsen Syndrome
Joubert Syndrome Klinefelter Syndrome
Klippel-Feil Syndrome Langer-Giedion Syndrome
Larsen Syndrome Laurence-Moon Syndrome
Leber's Congenital Amaurosis Leigh's
Lesch-Nyhan Syndrome Leukodystrophy
Lissencephaly Loeys-Dietz Syndrome
Lowe Syndrome Lymphedema
Lysinuric Protein Intolerance Machado-Joseph
Mannosidosis Maple Syrup Urine Disease
Marfan Syndrome McArdle's
MEB Disease Meckel-Gruber Syndrome
Menkes' Syndrome Mobius Syndrome
Mucolipidosis Type IV Mulibrey Nanism
Multiple Hereditary Exostoses Muscular Dystrophies
Myotonic Dystrophy Nail Patella Syndrome
Narcolepsy Nasu-Hakola Disease
Neurofibromatosis Niemann-Pick
Noonan Syndrome Opitz Syndrome
Osteogenesis Imperfecta Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome PEHO Syndrome
Phenylketonuria Polycystic Kidney
Popliteal Pterygium Syndrome Porphyrias
Prader-Willi Syndrome Progeria
Propionic Acidemia Proteus Syndrome
Prune Belly Syndrome Pseudoxanthoma Elasticum
RAPADILINO Syndrome Refsum's
Retinoblastoma Retinoschisis
Rett's Syndrome Robinow Syndrome
Rubinstein-Taybi Syndrome Russell Silver Syndrome
Sanfilippo Syndrome Schizencephaly
Shwachman Syndrome Sickle Cell
Sirenomelia Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome Soto's Syndrome
Spinal Muscular Atrophy Stickler's Syndrome
Sturge-Weber Syndrome Tay-Sachs
Thalassemia Thrombocytopenia Absent Radius Syndrome
Tourette Syndrome Treacher Collins Syndrome
Trichothiodystrophy Tuberous Sclerosis
Turner Syndrome Tyrosinemia
Unverricht-Lundborg Disease Urea Cycle
Usher Syndrome VATER Syndrome
Velo-Cardio-Facial Syndrome Von Hippel-Lindau
Waardenburg Syndrome WAGR Syndrome
Weaver Syndrome Williams Syndrome
Wilson's Disease Wolf-Hirschhorn Syndrome
Xeroderma Pigmentosum Zellweger Syndrome
Cardiac Cardiovascular
Metabolic Musculoskeletal
Neurological Urological
Gene Therapy Genetic Testing and Counseling
Genetics Education Human Genetics
Organizations Personal Pages
Support Groups Health: Conditions and Diseases: Congenital Anomalies
Health: Conditions and Diseases: Rare Disorders
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 The results 1 to 10 from 12
http://www.a3243g.com/
 A3243G  New window  Site info  Alexa info  Time machine
 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/
http://freespace.virgin.net/andy.bowles/
 Blepharophimosis Ptosis Epicanthus Inversus Syndrome  New window  Site info  Alexa info  Time machine
 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/
http://www.jewishgeneticscenter.org/
 The Center For Jewish Genetics Disorders  New window  Site info  Alexa info  Time machine
 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/
http://www.kumc.edu/gec/support/
 Genetic and Rare Conditions  New window  Site info  Alexa info  Time machine
 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/
http://www.ctds.info/genetic_disorders.html
 Genetic Disorders: The Links to Diet  New window  Site info  Alexa info  Time machine
 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
http://www.immd.de/
 IMMD Institute of Medical Molecular Diagnostics Ltd.  New window  Site info  Alexa info  Time machine
 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/
http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614
 Information on Trisomy 13  New window  Site info  Alexa info  Time machine
 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
http://www.p-c-d.org/en/
 Primary Ciliary Dyskinesia  New window  Site info  Alexa info  Time machine
 Information on a rare congenital disease.
http://www.p-c-d.org/en/
http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html
 What malformation did El Greco paint?  New window  Site info  Alexa info  Time machine
 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
http://www.xlhnetwork.org
 XLH Network  New window  Site info  Alexa info  Time machine
 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

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