Please see also specific disorder or condition in the alphabetical listings.
Top / Health / Conditions and Diseases / Genetic Disorders

Genetic Disorders

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  • Aarskog Syndrome
  • Aase Syndrome
  • Ablepharon-Macrostomia Syndrome
  • Alagille Syndrome
  • Alfi's 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
  • Ectodermal Dysplasia
  • Dubowitz Syndrome
  • Epidermolysis Bullosa
  • Familial Hypercholesterolemia
  • Fatty Oxidation
  • Floating-Harbor Syndrome
  • Fragile X Syndrome
  • Gilbert's 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
  • Lowe Syndrome
  • MEB Disease
  • Machado-Joseph
  • Mannosidosis
  • McArdle's
  • Meckel-Gruber Syndrome
  • Mobius Syndrome
  • Mulibrey Nanism
  • Nail Patella Syndrome
  • Nasu-Hakola Disease
  • Noonan Syndrome
  • Opitz Syndrome
  • Organizations
  • Pallister-Hall Syndrome
  • Pallister Killian Mosaic 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-Magenis Syndrome
  • Smith Lemli Opitz Syndrome
  • Soto's 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
  • Loeys-Dietz Syndrome

    • Relate Directory

  • Conditions and Diseases / Rare Disorders
  • Conditions and Diseases / Congenital Anomalies

    • Alias Directory

  • Acoustic Neuroma
  • Adie Syndrome
  • Adrenal Hyperplasia
  • Adrenoleukodystrophy
  • Aicardi Syndrome
  • Albinism
  • Alopecia Areata
  • Alstrom Syndrome
  • Angelman Syndrome
  • Apert Syndrome
  • Arthrogryposis
  • Aspartylglucosaminuria
  • Ataxia
  • Autism
  • Bardet-Biedl Syndrome
  • Barth Syndrome
  • Canavan
  • Cardiac
  • Cardiovascular
  • Celiac
  • Cerebrocostomandibular Syndrome
  • Charcot-Marie-Tooth Disease
  • Choroideremia
  • Cleidocranial Dysplasia
  • Cockayne Syndrome
  • Congenital Lactase Deficiency
  • Congenital Pain Insensitivity
  • Cornea Plana Congenita
  • Cornelia De Lange Syndrome
  • Cri du Chat Syndrome
  • Cystinosis
  • Dwarfism
  • Ehlers-Danlos Syndrome
  • Ellis-van Creveld Syndrome
  • Factor V Leiden
  • Familial Dysautonomia
  • Familial Erythromelalgia
  • Familial Mediterranean Fever
  • Fanconi Anemia
  • Freeman-Sheldon Syndrome
  • Friedreich Ataxia
  • Fuchs' Dystrophy
  • Galactosemia
  • Gaucher's
  • Genetics Education
  • Genetic Testing and Counseling
  • Gene Therapy
  • Glycogen Storage Disease Type II
  • GRACILE Syndrome
  • Hallervorden-Spatz Syndrome
  • Hemophilia
  • Homocystinuria
  • Human Genetics
  • Huntington's
  • Hydrocephalus
  • Imerslund-Grasbeck Syndrome
  • Jacobsen Syndrome
  • Klippel-Feil Syndrome
  • Langer-Giedion Syndrome
  • Larsen Syndrome
  • Leber's Congenital Amaurosis
  • Leigh's
  • Leukodystrophy
  • Lissencephaly
  • Lymphedema
  • Lysinuric Protein Intolerance
  • Maple Syrup Urine Disease
  • Marfan Syndrome
  • Menkes' Syndrome
  • Metabolic
  • Mucolipidosis Type IV
  • Multiple Hereditary Exostoses
  • Muscular Dystrophies
  • Musculoskeletal
  • Myotonic Dystrophy
  • Narcolepsy
  • Neurofibromatosis
  • Neurological
  • Niemann-Pick
  • Osteogenesis Imperfecta
  • PEHO Syndrome
  • Phenylketonuria
  • Polycystic Kidney
  • Porphyrias
  • Progeria
  • Refsum's
  • Retinoblastoma
  • Retinoschisis
  • Rett's Syndrome
  • Rubinstein-Taybi Syndrome
  • Sickle Cell
  • Spinal Muscular Atrophy
  • Stickler's Syndrome
  • Support Groups
  • Tay-Sachs
  • Thalassemia
  • Tourette Syndrome
  • Treacher Collins Syndrome
  • Tuberous Sclerosis
  • Tyrosinemia
  • Unverricht-Lundborg Disease
  • Urological
  • VATER Syndrome
  • WAGR Syndrome
  • Wilson's Disease

    • Site

  • Primary Ciliary Dyskinesia
    Information on a rare congenital disease.
  • 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.
  • 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.
  • 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.
  • 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.
  • Your Genes, Your Health
    The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Information on Trisomy 13
    Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
  • What malformation did El Greco paint?
    El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?

    • Web Search

  • Genetic Disorders in the Yahoo! Directory
    URL : dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders
    Includes sites for specific conditions, research news, and support groups. ... Directory > Health > Diseases and Conditions > Genetic Disorders ...[2008/11/29]
  • Genetic Disorders
    URL : www.noah-health.org/en/genetic
    NOAH > Genetic Diseases. Change text size: Genetic Disorders. Updated: March 31, 2008 ... Specific Conditions. Achromatopsia. Adrenal Hypoplasia Congenita ...[2008/03/31]
  • Genetic disorder - Wikipedia, the free encyclopedia
    URL : en.wikipedia.org/wiki/Genetic_disorder
    Genetic diseases are typically diagnosed and treated by geneticists. ... Conditions that are autosomal dominant often have low penetrance, which means ...[2008/12/02]
  • Genes and Genetic Disorders - Health Diseases and Conditions Information
    URL : www.diseasesconditions.com/Genetic_Disorders
    Describes the basic information of symptoms, diagnosis, and medical and surgical treatments for Genetic Disorders ... Genetic Disorders - Health Diseases and ...[2008/10/24]
  • Yahoo! Canada Directory > Genetic Disorders
    URL : ca.dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders
    NOAH: Genetic Disorders - Links to sites about various various diseases and ... Directory > Health > Diseases and Conditions > Genetic Disorders ...[2008/11/24]
  • Genetic Disorders - MedlinePlus
    URL : www.nlm.nih.gov/medlineplus/geneticdisorders.html
    Genetic and Rare Diseases Information Center(Office of Rare Diseases) ... Genetics Home Reference: Genetic Conditions(National Library of Medicine) Return to top ...[2008/12/04]
  • genome.gov | Specific Genetic Disorders
    URL : www.genome.gov/10001204
    Below you will find a list of selected genetic, orphan and rare diseases. ... about how to deal with genetic or rare conditions that have no diagnosis, see: ...[2008/11/03]
  • Genetics Home Reference - Your guide to understanding genetic conditions
    URL : ghr.nlm.nih.gov
    Genetic Disorders A to Z. and related genes and chromosomes ... Genetic Conditions. The genetics of more than 350 health conditions, diseases, and syndromes. ...[2008/11/27]
  • Yahoo! India Directory > Genetic Disorders
    URL : in.dir.yahoo.com/Health/.../Genetic_Disorders/?sort=lf
    NOAH: Genetic Disorders - Links to sites about various ... Directory > Health > Diseases and Conditions > Genetic Disorders. Copyright © 2006 Yahoo! Inc. ...[2008/11/25]
  • Chicago Center for Jewish Genetics Disorders - About Jewish Genetic ...
    URL : www.jewishgeneticscenter.org/what
    The "Jewish" genetic disorders are a group of conditions which are unusually ... Although these diseases can affect Sephardi Jews and non-Jews, they afflict ...[2008/11/23]
    • Top / Health / Conditions and Diseases / Genetic Disorders
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