Aarskog Syndrome 4
Aase Syndrome 3
Ablepharon-Macrostomia Syndrome 4
Acoustic Neuroma 15
Adie Syndrome 3
Adrenal Hyperplasia 6
Adrenoleukodystrophy 6
Aicardi Syndrome 7
Alagille Syndrome 7
Albinism 12
Alfi's Syndrome 2
Alkaptonuria 4
Alopecia Areata 13
Alpha-1 Antitrypsin Deficiency 11
Alstrom Syndrome 3
Angelman Syndrome 20
Apert Syndrome 10
Arthrogryposis 63
Aspartylglucosaminuria 3
Ataxia 8
Autism 531
Bardet-Biedl Syndrome 3
Barth Syndrome 3
Batten Disease 7
Beckwith-Wiedemann Syndrome 7
Bloom Syndrome 5
Branchio-Oto-Renal Syndrome 6
Canavan 4
Celiac 56
Cerebrocostomandibular Syndrome 2
Charcot-Marie-Tooth Disease 7
Choroideremia 3
Cleidocranial Dysplasia 3
Cockayne Syndrome 3
Coffin Lowry Syndrome 4
Cohen Syndrome 4
Congenital Lactase Deficiency 2
Congenital Pain Insensitivity
Cornea Plana Congenita 2
Cornelia De Lange Syndrome 4
Costello Syndrome 2
Cowden Syndrome 3
Craniofrontonasal Dysplasia 3
Cri du Chat Syndrome 4
Crigler-Najjar Syndrome 7
Currarino Syndrome 3
Cystic Fibrosis 126
Cystinosis 8
DiGeorge Syndrome 4
Down Syndrome 99
Dubowitz Syndrome 3
Dwarfism 29
Ectodermal Dysplasia 6
Ehlers-Danlos Syndrome 28
Ellis-van Creveld Syndrome 5
Epidermolysis Bullosa 17
Factor V Leiden 4
Familial Dysautonomia 8
Familial Erythromelalgia 3
Familial Hypercholesterolemia 1
Familial Mediterranean Fever 8
Fanconi Anemia 12
Fatty Oxidation 5
Floating-Harbor Syndrome 4
Fragile X Syndrome 12
Freeman-Sheldon Syndrome 5
Friedreich Ataxia 12
Fuchs' Dystrophy 4
Galactosemia 5
Gaucher's 13
Gilbert's Syndrome 10
Glutaricaciduria 3
Glycogen Storage Disease Type II 5
GRACILE Syndrome 3
Hailey-Hailey Disease 4
Hallervorden-Spatz Syndrome 3
Hemihypertrophy 3
Hemochromatosis 25
Hemophilia 26
Hereditary Angioedema 6
Hereditary Spastic Paraplegia 7
Homocystinuria 2
Huntington's 27
Hydrocephalus 45
Hydrolethalus Syndrome 4
Imerslund-Grasbeck Syndrome 2
Incontinentia Pigmenti 7
Jacobsen Syndrome
Joubert Syndrome 7
Klinefelter Syndrome 9
Klippel-Feil Syndrome 7
Langer-Giedion Syndrome 2
Larsen Syndrome 4
Laurence-Moon Syndrome 3
Leber's Congenital Amaurosis 9
Leigh's 4
Lesch-Nyhan Syndrome 1
Leukodystrophy 26
Lissencephaly 5
Loeys-Dietz Syndrome 5
Lowe Syndrome 2
Lymphedema 24
Lysinuric Protein Intolerance 5
Machado-Joseph 3
Mannosidosis 2
Maple Syrup Urine Disease 10
Marfan Syndrome 25
McArdle's 1
MEB Disease 3
Meckel-Gruber Syndrome 2
Menkes' Syndrome 6
Mobius Syndrome 5
Mucolipidosis Type IV 4
Mulibrey Nanism 2
Multiple Hereditary Exostoses 6
Muscular Dystrophies 64
Myotonic Dystrophy 4
Nail Patella Syndrome 5
Narcolepsy 20
Nasu-Hakola Disease 3
Neurofibromatosis 15
Niemann-Pick 4
Noonan Syndrome 8
Opitz Syndrome 4
Osteogenesis Imperfecta 14
Pallister Killian Mosaic Syndrome 9
Pallister-Hall Syndrome 3
PEHO Syndrome 5
Phenylketonuria 9
Polycystic Kidney 14
Popliteal Pterygium Syndrome 1
Porphyrias 14
Prader-Willi Syndrome 9
Progeria 10
Propionic Acidemia 5
Proteus Syndrome 5
Prune Belly Syndrome 2
Pseudoxanthoma Elasticum 5
RAPADILINO Syndrome 2
Refsum's 3
Retinoblastoma 24
Retinoschisis 6
Rett's Syndrome 19
Robinow Syndrome 4
Rubinstein-Taybi Syndrome 4
Russell Silver Syndrome 3
Sanfilippo Syndrome 7
Schizencephaly 1
Shwachman Syndrome 7
Sickle Cell 19
Sirenomelia 6
Smith Lemli Opitz Syndrome 3
Smith-Magenis Syndrome 3
Soto's Syndrome 5
Spinal Muscular Atrophy 16
Stickler's Syndrome 4
Sturge-Weber Syndrome 4
Tay-Sachs 4
Thalassemia 21
Thrombocytopenia Absent Radius Syndrome 3
Tourette Syndrome 57
Treacher Collins Syndrome 4
Trichothiodystrophy 10
Tuberous Sclerosis 11
Turner Syndrome 13
Tyrosinemia 2
Unverricht-Lundborg Disease 3
Urea Cycle 2
Usher Syndrome 2
VATER Syndrome 17
Velo-Cardio-Facial Syndrome 5
Von Hippel-Lindau 4
Waardenburg Syndrome 2
WAGR Syndrome 3
Weaver Syndrome 2
Williams Syndrome 17
Wilson's Disease 11
Wolf-Hirschhorn Syndrome 8
Xeroderma Pigmentosum 6
Zellweger Syndrome 7
| | Congenital Anomalies - Conditions and Diseases, Health 3
Rare Disorders - Conditions and Diseases, Health 121
Cardiac 50
Cardiovascular 5
Metabolic 368
Musculoskeletal 202
Neurological 111
Urological 25
Gene Therapy 69
Genetic Testing and Counseling 31
Genetics Education 18
Human Genetics 246
Organizations 8
Personal Pages 12
Support Groups 26
 Gene ClinicsGene 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.
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A3243GA3243G
 Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
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Blepharophimosis Ptosis Epicanthus Inversus SyndromeBlepharophimosis 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.
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The Center For Jewish Genetics DisordersThe 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.
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Genetic and Rare ConditionsGenetic and Rare Conditions
 Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
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Genetic Disorders: The Links to DietGenetic 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.
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IMMD Institute of Medical Molecular Diagnostics Ltd.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.
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Information on Trisomy 13Information on Trisomy 13
 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
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Primary Ciliary DyskinesiaPrimary Ciliary Dyskinesia
 Information on a rare congenital disease.
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What malformation did El Greco paint?What malformation did El Greco paint?
 El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
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XLH NetworkXLH 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.
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Your Genes, Your HealthYour Genes, Your Health
 The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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New Scientist: Heroin Addiction Gene Identified and BlockedNew 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)
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