site URL - http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome
Site description: A list of the synonyms, a general discussion and further resources.
|
|
| LINK | URI & TITLE | DESCRIPTION & TOPIC | |
| Previous 10 | Machado-Joseph Disease Fact Sheet | http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm Machado-Joseph Disease Fact Sheet | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph Developed by the National Institute of Neurological Disorders and Stroke (NINDS). |
| Previous | Velo-Cardio-Facial Syndrome (VCFS) | http://www.upstate.edu/ent/velo.shtml Velo-Cardio-Facial Syndrome (VCFS) | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA). |
| Random 1 | Erlanger Medical Center | http://www.erlanger.org/ Erlanger Medical Center | Top/Health/Medicine/Facilities/Hospitals/North_America/United_States/Tennessee Consists of three main inpatient components: Baroness Erlanger Hospital, T. C. Thompson Children's Hospital, and Willie D. Miller Eye Center. Services include 7 specialized critical care units such as: Trauma, Coronary Care, Neuromedical, Burn, and Cardiac Surgery Intensive Care. Located in Chattanooga. |
| Random 2 | University of Alberta. | http://www.nursing.ualberta.ca/ University of Alberta. | Top/Health/Nursing/Education/North_America/Canada/Alberta Offers undergraduate and graduate programs. Includes mission statement, news, events, program descriptions, and admission requirements. |
| Random 3 | Medical Technology Consulting | http://www.medtechcon.com/ Medical Technology Consulting | Top/Business/Healthcare/Products_and_Services/Diagnostic/Ultrasound Works with manufacturers of medical imaging equipment and with clinics that use this equipment to provide marketing, and technology assessment services. |
| Random 4 | First Dance | http://first-dance.com First Dance | Top/Arts/Performing_Arts/Dance/Education/Studios/United_States New York, NY - Two locations teaching ballroom dance lessons to wedding couples. |
| Random 5 | Emergency Services International | http://www.homestead.com/Emservint/Emservint.html Emergency Services International | Top/Health/Public_Health_and_Safety/Emergency_Services/Medical Provides medical and trauma teams to accompany corporations, executives, film industry, government officials, research, business and recreational travelers internationally. Based in West Hurley, New York. |
| Next | Usher Syndrome | http://www.rpsa.org.za/a6.htm Usher Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Usher_Syndrome A description of this disease from Retinal Preservation Foundation of South Africa. |
| Next 10 | TAR Syndrome Support Group | http://www.ivh.se/TAR/contents.htm TAR Syndrome Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome For families of children born with this rare disorder. |
| Random 1 | RSCDS - Herefordshire branch | http://uk.geocities.com/rscds_hfds/ RSCDS - Herefordshire branch | Top/Arts/Performing_Arts/Dance/Folk_Dancing/Celtic/Scottish/Branches_of_the_Royal_Scottish_Country_Dance_Society/United_Kingdom Information about classes and events, including links and pictures. |
| Random 4 | Catholic Charities of San Diego | http://www.ccdsd.org/preg.html Catholic Charities of San Diego | Top/Health/Reproductive_Health/Clinics_and_Services/Abortion_Alternative_Services/Regional/United_States/California Offers counseling, medical referrals, baby clothing, and education on pregnancy, infant care, child development, budget and home management, and stress reduction. |
| Random 4 | Desert AIDS Project | http://www.desertaidsproject.org/ Desert AIDS Project | Top/Health/Conditions_and_Diseases/Immune_Disorders/Immune_Deficiency/AIDS/Regional/North_America/United_States/California Desert AIDS Project provides medical care and comprehensive support services to people living with HIV/AIDS in the desert community. Free, anonymous HIV testing is available, as well as counseling, home health services, legal assistance, and assistance with housing, medications, food, and re-employment. |
| Next 70 | Genetic Interest Group | http://www.gig.org.uk Genetic Interest Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations Information about this UK umbrella group of organizations working together to improve services for people with genetic disorders. A notice board, education, services and links are provided. |
| Previous 70 | Lchad.com | http://www.lchad.com Lchad.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Support site for families affected by Long-Chain 3 Hydroxyacyl CoA Dehydrogense (LCHAD). Includes profiles of people with LCHAD and general information about the disorder. |
| Next 170 | Envision | http://www.dukeeye.org/envision/index.html Envision | Top/Health/Conditions_and_Diseases/Eye_Disorders/Blindness Flash presentation on the research at the Duke University Eye Center to eliminate blindness. |
| Previous 170 | Readers Digest Health | http://www.rd.com/common/nav/index.jhtml?articleId=8612189 Readers Digest Health | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome A brief discussion about joubert syndrome, its alternate names and further resources. |
| Next 270 | |||
| Previous 270 | Eulogy for Jef Baird | http://www.geocities.com/CapeCanaveral/9740/JEFEULGY.HTM Eulogy for Jef Baird | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials Eulogy for a young man who lost his life to CF. |
| Other resource N0 | The Cystic Fibrosis Center at Stanford | http://cfcenter.stanford.edu/ The Cystic Fibrosis Center at Stanford | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on services provided, ongoing clinical trials, news from and about individuals with CF and basic information. |
| Other resource N1 | The Cystic Fibrosis Center at Rush Children's Hospital | http://www.rush.edu/patients/children/services/specialties/cysticfibrosis/ The Cystic Fibrosis Center at Rush Children's Hospital | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Offers a state-of-the-art multidisciplinary team approach to the care and treatment of infants, children, adolescents and adults with cystic fibrosis. |
| Other resource N2 | South Dakota Cystic FibrosisCenter | http://med.usd.edu/sdcfc/ South Dakota Cystic FibrosisCenter | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on South Dakota CF Center in Sioux Falls. |
| Other resource N3 | Lucile Packard Children's Hospital Pulmonary Care and Cystic Fibrosis Center - Stanford | http://www.lpch.org/clinicalSpecialtiesServices/COE/PulmonaryCareCF/overview.html Lucile Packard Children's Hospital Pulmonary Care and Cystic Fibrosis Center - Stanford | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on location, staff, programs, research and other resources. |
| Other resource N4 | Cystic Fibrosis Message Board | http://www.healthboards.com/cystic-fibrosis/ Cystic Fibrosis Message Board | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Forum for support, and to discuss information, concerns, and treatment options. |
| Other resource N5 | International Cystic Fibrosis Support Group | http://cf.conncoll.edu/ International Cystic Fibrosis Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Purpose is to disseminate information concerning Cystic Fibrosis, to give support to those involved with the disease, to provide a forum for the discussion of topics relative to Cystic Fibrosis, to give the members the opportunity to have an exchange of their ideas and interests not directly related to Cystic Fibrosis, and to provide contact with others who have or have an interest in Cystic Fibrosis. |
| Other resource N6 | CFTR Review Page | http://opal.msu.montana.edu/cftr CFTR Review Page | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/CFTR_and_Genetic_Mutations A website about CFTR, the protein involved in cystic fibrosis. |
| Other resource N7 | Protein Structure of CFTR Unravelled | http://www.lbl.gov/Science-Articles/Archive/abc-cystic-fibrosis.html Protein Structure of CFTR Unravelled | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/CFTR_and_Genetic_Mutations Scientists have obtained their first three-dimensional look at a member of a large family of proteins that play a central role in the development of cystic fibrosis, can block the therapeutic effects of medications, and are also involved in a wide range of vital biological processes. The structure of this representative protein was solved by a team at the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) and the University of California at Berkeley (UCB). |
| Other resource N8 | HHCS Health Care | http://www.hhcs.com/Default.htm HHCS Health Care | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Pharmaceuticals_and_Supplies Cystic Fibrosis Services, pharmacy for cystic fibrosis. |
| Other resource N9 | Cystic Fibrosis WebRing | http://azcowboy88.tripod.com/welcome/ Cystic Fibrosis WebRing | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Web_Rings Connects over 50 websites. All sites contain information about Cystic Fibrosis and personal experiences of people living with CF. |
| Other resource N10 | Cystic Fibrosis Genetic Testing | http://www.phd.msu.edu/DNA/cf_fact.html Cystic Fibrosis Genetic Testing | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Genetic Features testing details, patient information, and physician's guide. |
| Other resource N11 | Sweat Test | http://www.kidshealth.org/parent/general/sick/sweat_test.html Sweat Test | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Diagnostic A short fact sheet for parents. Explains how this test is performed and how it's used to diagnose cystic fibrosis. |
| Other resource N12 | European Cystic Fibrosis Society | http://www.ecfsoc.org/ European Cystic Fibrosis Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations ECFS, aims to achieve the best possible treatment and the highest quality of life for the patient with cystic fibrosis by the development and distribution of knowledge in the field of cystic fibrosis |
| Other resource N13 | Cystic Fibrosis Victoria Inc | http://www.cfv.org.au Cystic Fibrosis Victoria Inc | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Information about Cystic Fibrosis and the organisation, online chat room and message board. |
| Other resource N14 | Cochrane Cystic Fibrosis & Genetic Disorders Review Group | http://www.liv.ac.uk/CFGD/ Cochrane Cystic Fibrosis & Genetic Disorders Review Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations An international network of health care professionals, researchers and consumers preparing, maintaining, and disseminating systematic reviews of randomised control trials in the treatment of cystic fibrosis and other genetic disorders. |
| Other resource N15 | Canadian Cystic Fibrosis Foundation | http://www.cysticfibrosis.ca/ Canadian Cystic Fibrosis Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Support and resources. Located in Toronto, Ontario. |
| Other resource N16 | Dream Holidays Charity | http://www.cfdreamholidays.com/ Dream Holidays Charity | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations The Dream Holidays Charity helps families who have a child with Cystic Fibrosis, a genetic life threatening disease. We arrange holidays and wishes for these children with no cost to the family. |
| Other resource N17 | Reaching Out Foundation | http://www.reachingoutfoundation.org/ Reaching Out Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Provides information on the programs provided by this foundation, a personal story of a person with CF who had a double lung transplant, general information on CF, and how you can donate. |
| Other resource N18 | Victoria Chapter, Canadian Cystic Fibrosis Foundation | http://www.victoriacfchapter.ca/ Victoria Chapter, Canadian Cystic Fibrosis Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations The Victoria Chapter, one of 51 Chapters of the Canadian Cystic Fibrosis Foundation, works to provide a brighter future for every person born with cystic fibrosis. It assists in the quest to find a cure or control for the disease. |
| Other resource N19 | Concerned Friends of Cystic Fibrosis in Israel | http://www.cfcfisrael.org Concerned Friends of Cystic Fibrosis in Israel | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Charitable organization that helps families in Israel who have a member suffering from CF. Includes news, medical equipment needed, and donation information. |
| Other resource N20 | Cystic Fibrosis Australia | http://www.cysticfibrosisaustralia.org.au/ Cystic Fibrosis Australia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Information about the organization and its aims and objectives, CF facts, events, links and contact details. |
| Other resource N21 | Cystic Fibrosis Research Inc. | http://www.cfri.org/ Cystic Fibrosis Research Inc. | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research News about CF research. Site also has a newsletter available. |
| Other resource N22 | Cystic Fibrosis: Gene to Product | http://wsrv.clas.virginia.edu/~rjh9u/cfmap.html Cystic Fibrosis: Gene to Product | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research The most frequently occurring mutation, delta-F508, is a single amino acid deletion in exon 10 which codes for a portion of the first nucleotide binding function (NBF-1) domain of the cystic fibrosis transmembrane conductance regulation protein. A list of other CF mutations is available. |
| Other resource N23 | San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosis | http://hco3-cysticfibrosis.ucsd.edu/index.htm San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Conferences Conference photos, list of speakers and abstracts. |
| Other resource N24 | Iron Overload: Hemosiderosis; Hemochromatosis | http://www.merck.com/pubs/mmanual/section11/chapter128/128a.htm Iron Overload: Hemosiderosis; Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Merck Manual looks at this disorder, its signs and symptoms, diagnosis and treatment. |
| Other resource N25 | Iron Disorders Institute | http://www.irondisorders.org/ Iron Disorders Institute | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Non-profit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis. |
| Other resource N26 | CDC: Iron Overload and Hemochromatosis | http://www.cdc.gov/nccdphp/dnpa/hemochromatosis/index.htm CDC: Iron Overload and Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis The US Centers for Disease Control and Prevention provide reviewed information on hemochromatosis, including screening, information for patients, FAQ and resources. |
| Other resource N27 | Haemochromatosis UK | http://www.has-ironoverload.co.uk Haemochromatosis UK | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Light hearted and simple terms in explaining the serious disease of haemochromatosis. |
| Other resource N28 | Irish Haemochromatosis Society | http://www.haemochromatosis-ir.com/ Irish Haemochromatosis Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Irish volunteer organisation to support people with haemochromatosis and promote the disease. |
| Other resource N29 | Iron Overload Disorder Support Forum | http://www.iodforum.net Iron Overload Disorder Support Forum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Support group for those affected by hemochromatosis |
| Other resource N30 | Joubert Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm Joubert Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information sheet compiled by NINDS. |
| Other resource N31 | TheFetus.net | http://www.thefetus.net/page.php?id=122 TheFetus.net | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. |
| Other resource N32 | Yahoo Health | http://health.yahoo.com/health/dc/000392/0.html Yahoo Health | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. |
| Other resource N33 | Crigler-Najjar Disease | http://it.geocities.com/criglernajjar Crigler-Najjar Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome Bi-lingual site with information and links on this disease. |
| Other resource N34 | Coffin-Lowry Syndrome Foundation | http://clsfoundation.tripod.com/ Coffin-Lowry Syndrome Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. |
| Other resource N35 | NORD: Coffin Lowry Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Lowry%20Syndrome NORD: Coffin Lowry Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome General information about this syndrome, its alternative names and further resources. |
| Other resource N36 | Klinefelter Syndrome | http://www.emedicine.com/PED/topic1252.htm Klinefelter Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Overview and medical information. |
| Other resource N37 | Genetic Org Home | http://www.genetic.org/ Genetic Org Home | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment. |
| Other resource N38 | XXY Information (Klinefelter Syndrome) | http://www.47xxy.org/XXYframe.html XXY Information (Klinefelter Syndrome) | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Medical information, news, and links. |
| Other resource N39 | Yahoo!: XXYList | http://groups.yahoo.com/group/xxylist Yahoo!: XXYList | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome XXY is a genetic anomaly which occurs 1 in 500 in the general population today. Men with this condition usually have Klinefelters Syndrome. Offers joining instructions for this support group. |
| Other resource N40 | BWSN: Beckwith-Wiedemann Syndrome | http://beckwith-wiedemann.org/index.html BWSN: Beckwith-Wiedemann Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group. |
| Other resource N41 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome052.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features. |
| Other resource N42 | Beckwith-Wiedemann Family Chat Forum | http://groups.yahoo.com/group/bwschat Beckwith-Wiedemann Family Chat Forum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support. |
| Other resource N43 | Floating Harbor Syndrome Support Group | http://hometown.aol.com/jdswanson Floating Harbor Syndrome Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Provides a description, including a list of symptoms, things to do and links to other resources. Also contact detail. |
| Other resource N44 | Readers Digest Health | http://www.rd.com/common/nav/index.jhtml?articleId=8612919 Readers Digest Health | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome A general discussion about floating harbor syndrome and some resources for further information. |
| Other resource N45 | Family Village | http://www.familyvillage.wisc.edu/lib_vonh.htm Family Village | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Links to chat rooms, web sites and information about Von Hippel Lindau's disease. |
| Other resource N46 | Nail Patella Syndrome Worldwide | http://www.nailpatella.org Nail Patella Syndrome Worldwide | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization. |
| Other resource N47 | John Hopkins Medical Institution - NPS | http://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm John Hopkins Medical Institution - NPS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups. |
| Other resource N48 | Alpha One Foundation | http://www.alphaone.org Alpha One Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. |
| Other resource N49 | University of Cambridge | http://www.cimr.cam.ac.uk/people/profiles/lomas_david_profile.html University of Cambridge | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency. |
| Other resource N50 | Spiderspun | http://www.spiderspun.net Spiderspun | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A haven for those affected by Alpha-1 Antirypsin Deficiency. Facts, chat rooms, assistance programs, and reference material. |
| Other resource N51 | Pediatric Oncall | http://www.pediatriconcall.com/fordoctor/diseasesandcondition/alpha1deficiency.asp Pediatric Oncall | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Offers a description of alpha–l antitrypsin, including the affects on the liver and how it presents. |
| Other resource N52 | Batten Disease Family Association | http://www.bdfauk.freeserve.co.uk/ Batten Disease Family Association | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Information about the BDFA, which provides supportive, informative, networking for the families, carers and professional giving care to children and adults with this disease in the United Kingdom. |
| Other resource N53 | seeAbility - Juvenile Battens Disease | http://www.seeability.org/randd/jboverview.htm seeAbility - Juvenile Battens Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten An in depth article on this disorder, includes the stages of the disease and the symptoms. |
| Other resource N54 | E-Medicine: HAE | http://www.emedicine.com/derm/topic24.htm E-Medicine: HAE | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema An in dept look at hereditary angioedema beginning with an introduction, clinical features, differentials, work up, treatment, medication and follow up. |
| Other resource N55 | Adam.com: An Overview | http://www.nlm.nih.gov/medlineplus/ency/article/001456.htm Adam.com: An Overview | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A definition of hereditary angioedema along with a look at the causes, incidence and risk factors. |
| Other resource N56 | Ashly's Skeletal Dysplasia | http://www.angelfire.com/or2/ashlysworldofwonders/about.html Ashly's Skeletal Dysplasia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites. |
| Other resource N57 | Taryn's World: About Switches | http://www.tarynsworld.org/taryn/switches.htm Taryn's World: About Switches | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Personal page for kids and parents about genetic disorders, especially mannosidosis. |
| Other resource N58 | XXXXY Syndrome | http://www.xxxxysyndrome.com XXXXY Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Information on this rare chromosomal abnormality. |
| Other resource N59 | Mowat-Wilson | http://www.mowatwilson.org Mowat-Wilson | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Discussion site for mowat-wilson syndrome. Includes a links page, photos, a community page and a discussion area. |
| Other resource N60 | McArdle's Disease Resources | http://members.aol.com/itsgumby/ McArdle's Disease Resources | Top/Health/Conditions_and_Diseases/Genetic_Disorders/McArdle's Information, resources, and contacts for those affected by this disease or any of the glycogen storage diseases. |
| Other resource N61 | MCW Healthlink: Mobius Syndrome | http://healthlink.mcw.edu/article/921441372.html MCW Healthlink: Mobius Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Details about this disease, including what it is, the causes, symptoms and treatment options. |
| Other resource N62 | Lowe Syndrome Association | http://www.lowesyndrome.org Lowe Syndrome Association | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Information about this disease and the international organization that deals with it. |
| Other resource N63 | Fatty Oxidation Disorders | http://www.fodsupport.org/ Fatty Oxidation Disorders | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List. |
| Other resource N64 | Lchad.com | http://www.lchad.com Lchad.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Support site for families affected by Long-Chain 3 Hydroxyacyl CoA Dehydrogense (LCHAD). Includes profiles of people with LCHAD and general information about the disorder. |
| Other resource N65 | Hemihypertrophy | http://www.ibis-birthdefects.org/start/hemihype.htm Hemihypertrophy | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy A description from International Birth Defects Information Systems. |
| Other resource N66 | Human Genome Mapping Project | http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095 Human Genome Mapping Project | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. |
| Other resource N67 | NCBI Genes and Diseases | http://www.ncbi.nlm.nih.gov/disease/DGS.html NCBI Genes and Diseases | Top/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome An article about DiGeorge syndrome with a description, causes, research and treatment. |
| Other resource N68 | 22q and You Center | http://www.chop.edu/consumer/jsp/division/service.jsp?id=74652 22q and You Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome Symptoms, diagnosis, and treatment of chromosome 22q11.2 deletion, a genetic disorder associated with DiGeorge, velocardiofacial and other syndromes. |
| Other resource N69 | Incontinentia Pigmenti | http://www.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm Incontinentia Pigmenti | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke. |
| Other resource N70 | Incontinentia Pigmenti International Foundation | http://imgen.bcm.tmc.edu/ipif/ Incontinentia Pigmenti International Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Details about the organization that is dedicated to research into the causes and treatment of this genetic disease. Includes information about the disease, genetics and genes. |
| Other resource N71 | Laurence Moon Bardet Biedl Society | http://www.lmbbs.org.uk Laurence Moon Bardet Biedl Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Laurence-Moon_Syndrome Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details. |
| Other resource N72 | Urea Cycle Disorders | http://www.2endure.com Urea Cycle Disorders | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle Information, medical links and a message board. The true story of a one family's struggle with this illness. |
| Other resource N73 | Hereditary Spastic Paraplegia | http://www.ninds.nih.gov/health_and_medical/disorders/hereditarysp.htm Hereditary Spastic Paraplegia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N74 | MCW Healthlink: HSP | http://healthlink.mcw.edu/article/921730935.html MCW Healthlink: HSP | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia An article about hereditary spastic paraplegia, also called familial spastic paralysis. |
| Other resource N75 | Soto's Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/sotos.htm Soto's Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Also known as cerebral gigantism, an information sheet compiled by NINDS. |
| Other resource N76 | Sotos Syndrome Support Association of Canada | http://www.sssac.com Sotos Syndrome Support Association of Canada | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Provides educational and emotional support, and current information. English and French. |
| Other resource N77 | Zellweger Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/zellwege_doc.htm Zellweger Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke. |
| Other resource N78 | NORD: Zellweger Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger%20Syndrome NORD: Zellweger Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Offers alternate names, a general discussion and resources. |
| Other resource N79 | From the Window of a Weaver's Syndrome | http://www.rumeysagelgi.com From the Window of a Weaver's Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Rumeysa Gelgi is the first and the only Weaver's Syndrome case in Turkey and 27th case over the World. Find information about her life and the disease. |
| Other resource N80 | The CaF Directory | http://www.cafamily.org.uk/Direct/e14.html The CaF Directory | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Information about the ectodermal dysplasia disorders, the inheritance patterns and pre-natal diagnosing. |