site URL - http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Weaver%20Syndrome
Site description: Offers alternate names, a general discussion and further resources.
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| LINK | URI & TITLE | DESCRIPTION & TOPIC | |
| Previous 10 | 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. |
| Previous | 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. |
| Random 1 | OHSU Health | http://www.ohsuhealth.com/cei/ OHSU Health | Top/Health/Conditions_and_Diseases/Eye_Disorders Oregon Health & Science University offers information on research, education, patient services and eye health including the anatomy of the eye, correcting or improving vision, eye disorders and safety and a glossary. |
| Random 2 | U.S. EPA Radiation Protection Division | http://www.epa.gov/radiation/ U.S. EPA Radiation Protection Division | Top/Science/Environment/Environmental_Health/Health_Physics_and_Radiological_Health Information and educational materials. About radiological topics in general, plus EPA's activities in protecting the public and the environment from exposure, cleaning up radioactively contaminated sites, and participating in radiological emergency preparedness and response. |
| Random 3 | Beautyink.com | http://www.beautyink.com Beautyink.com | Top/Shopping/Health/Beauty/Hair_Care/Ethnic Minority owned and operated beauty supply store. Offers an extensive line of human weaves and human hair braids. |
| Random 4 | Image Builders | http://www.imagebuilders.co.uk Image Builders | Top/Business/Business_Services/Design/Graphic_Design/Firms/I Corporate, property, construction and medical design. |
| Random 5 | 1ST International Football/ Soccer Medicine Congress, Munich (Germany) | http://www.med-football.com/ 1ST International Football/ Soccer Medicine Congress, Munich (Germany) | Top/Health/Medicine/Medical_Specialties/Sports_Medicine The IFOMEC program committee has developed a football medicine specific program with scientific paper sessions and hands-on courses. Program information and online-registration. |
| Next | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Waardenburg+anophthalmia+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Waardenburg_Syndrome Offers synonyms, a summary and a list of major features. |
| Next 10 | NORD: Pseudoxanthoma Elasticum | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pseudoxanthoma%20Elasticum%20%28PXE%29 NORD: Pseudoxanthoma Elasticum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum Offers a general discussion and resources for PXE. |
| Random 1 | Jessica's Vacant Lot | http://www.geocities.com/Broadway/Balcony/9282/ Jessica's Vacant Lot | Top/Arts/Performing_Arts/Theatre/Musicals/R/Rent Reviews of the Angel Cast, pictures, stories, postcards. |
| Random 4 | Health Care Recruiting | http://www.health-care-recruiting.com/ Health Care Recruiting | Top/Health/Medicine/Employment/Recruitment_and_Staffing Specialists in permanent nationwide physician placement representing all medical specialties. |
| Random 4 | Oregon Board of Medical Examiners | http://www.bme.state.or.us/ Oregon Board of Medical Examiners | Top/Regional/North_America/United_States/Oregon/Government Licenses medical doctors, doctors of osteopathic medicine, podiatrist, physician assistants, and acupuncturist. In addition we conduct investigations and impose disciplinary action. |
| Next 70 | NORD: Shwachman Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman%20Syndrome NORD: Shwachman Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome Offers a general discussion, the synonyms and further resources. |
| Previous 70 | C-1 Esterase Deficiency | http://www.emedicine.com/med/topic420.htm C-1 Esterase Deficiency | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema Article from eMedicine.com by Michael Elnicki MD on C-1 Esterase Deficiency also known as Hereditary angioedema (HAE). |
| Next 170 | Eye Institute of Canada | http://www.eyecanada.ca Eye Institute of Canada | Top/Health/Conditions_and_Diseases/Eye_Disorders/Low_Vision Offers low vision care by optometrists who specialize in low vision rehabilitation and low vision devices. |
| Previous 170 | 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. |
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| Previous 270 | Personal page for Aleeya | http://www.geocities.com/WallStreet/Floor/1739/ Personal page for Aleeya | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Page by a woman for her granddaughter who has cystic fibrosis. |
| Other resource N0 | Crista Lint-Kloppenburg | http://www.lintje.com/cfeng.htm Crista Lint-Kloppenburg | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Site by a Dutch woman with Cystic Fibrosis. |
| Other resource N1 | David's Pages | http://www.the-thornes.com/davids.htm David's Pages | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Site by an English man with Cystic Fibrosis. |
| Other resource N2 | CYSTIC FIBROSIS FOR KIDS | http://members.tripod.com/~jtatton/index.html CYSTIC FIBROSIS FOR KIDS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages This site is for children with cystic fibrosis designed by a man from the Netherlands with CF. |
| Other resource N3 | Sarah Yourman | http://www.sarahyourman.com/ Sarah Yourman | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Site by a girl with CF and Diabetes. |
| Other resource N4 | Page for Someone Special to Us All | http://www.angelfire.com/pa3/jenjen24/ Page for Someone Special to Us All | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials Memorial page for woman with CF. |
| Other resource N5 | Cute Petite Chic - A Cystic Fibrosis Web | http://www.cuteptchic.com Cute Petite Chic - A Cystic Fibrosis Web | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials Basic information with good description of sweat test, memorial page for a girl lost to CF at age 9, details of her last days and link to give in her memory through Great Strides. |
| Other resource N6 | 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 N7 | In Loving Memory of Angie Ekwall | http://www.geocities.com/angelassixtyfiveroses/ In Loving Memory of Angie Ekwall | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials A memorial site for Angela Ekwall, who lost her life at age 20 to cystic fibrosis. |
| Other resource N8 | Susy Dirr's Web Page | http://members.aol.com/pretzel20/ Susy Dirr's Web Page | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Post_Transplant Site about a woman with CF who underwent a lung transplant. |
| Other resource N9 | Israel's CF Center | http://www.y2lungs.com/TelHashomer.htm Israel's CF Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities National Center for Cystic Fibrosis at the Chaim Sheba Medical Center, Tel Hashomer, is the largest center in Israel. Contact information and hours included. |
| Other resource N10 | CF Pulmonary Treatment & Research Center | http://www.med.unc.edu/wrkunits/3ctrpgm/cystfib/CFcent.htm CF Pulmonary Treatment & Research Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities The UNC Cystic Fibrosis Pulmonary Research and Treatment Center is a large, multidisciplinary group focused on the pathogenesis and therapy of cystic fibrosis and other lung diseases. One of the largest clinical programs in the country with over 500 patients in our pediatric & adult programs. |
| Other resource N11 | Cystic Fibrosis Clinical and Research Center - Seattle | http://depts.washington.edu/cfcenter Cystic Fibrosis Clinical and Research Center - Seattle | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities University of Washington CF Center. Information on Cf Research Development Program, Core Center for Gene Therapy, Clinic, Research Trials, current events and staff. |
| Other resource N12 | UCLA CF Clinic | http://www.healthcare.ucla.edu/handbook/program.asp?version=5619&programid=79 UCLA CF Clinic | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Contact information of Cystic Fibrosis clinic at UCLA. |
| Other resource N13 | Michigan Pulmonary Disease Community, Inc. | http://www.mpdci.org Michigan Pulmonary Disease Community, Inc. | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Organization dedicated to enhancing lives of children and adults with Cystic Fibrosis. |
| Other resource N14 | Cystic Fibrosis Community | http://community.healingwell.com/community/?f=18 Cystic Fibrosis Community | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Active message board and chat for caregivers and individuals with Cystic Fibrosis. Share support, give advice, offer coping skills. Moderated by volunteers. |
| Other resource N15 | Cystic Fibrosis Mutation Data Base | http://www.genet.sickkids.on.ca/cftr/ Cystic Fibrosis Mutation Data Base | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/CFTR_and_Genetic_Mutations Database of Cystic Fibrosis mutations plus other relevant information on these mutations. |
| Other resource N16 | About TOBI and the Management of Cystic Fibrosis | http://www.abouttobi.com About TOBI and the Management of Cystic Fibrosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Pharmaceuticals_and_Supplies Information on Tobramycin Solution for Inhalation (TOBI) for pseudomonas infection, by pharmaceutical agency. |
| Other resource N17 | Pulmozyme.com | http://www.pulmozyme.com Pulmozyme.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Pharmaceuticals_and_Supplies Cystic fibrosis information, symptoms, and treatments. Pulmozyme (dornase alfa) inhalation solution, from Genentech, Inc. |
| Other resource N18 | Pre-implantation, Pre-natal and Newborn Screening for CF | http://personal.nbnet.nb.ca/normap/screening.htm Pre-implantation, Pre-natal and Newborn Screening for CF | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing Details the tests available for fetuses and newborns for early Cystic Fibrosis diagnosis. |
| Other resource N19 | American Medical Association: Cystic Fibrosis Testing | http://www.ama-assn.org/ama/pub/category/9181.html American Medical Association: Cystic Fibrosis Testing | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Genetic Information on genetic testing to identify people who carry the mutation associated with this condition. |
| Other resource N20 | Neonatal Cystic Fibrosis Screening | http://health.allrefer.com/health/neonatal-cystic-fibrosis-screening-info.html Neonatal Cystic Fibrosis Screening | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Diagnostic Information sheets on testing for immunoreactive trypsinogen to diagnose CF in infants. Test description, preparation, risks, expectations, special considerations, normal and abnormal values, and evaluation of results. |
| Other resource N21 | Cystic Fibrosis Nurses: the International Specialist Group | http://www.cfnurses.net Cystic Fibrosis Nurses: the International Specialist Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Organization whose goals include setting and promoting high standards of nursing practice in the treatment of persons with Cystic Fibrosis. |
| Other resource N22 | Cystic Fibrosis Worldwide | http://www.iacfa.org/ Cystic Fibrosis Worldwide | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations International Association of Cystic Fibrosis Adults web site and International Cystic Fibrosis Mucoviscidosis Association. |
| Other resource N23 | National Cystic Fibrosis Awareness Committee (NCFAC) | http://www.cfawareness.org/ National Cystic Fibrosis Awareness Committee (NCFAC) | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Helps to advance the public awareness of the genetic disease. Site includes mission statement and message board. |
| Other resource N24 | CCFF Sudbury Chapter | http://www.cyberbeach.net/~cf CCFF Sudbury Chapter | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Website of the Canadian Cystic Fibrosis Foundation Sudbury Chapter. Provides information on local events and information about Cystic Fibrosis. |
| Other resource N25 | Lungs for Life Foundation | http://Lungsforlife.org/ Lungs for Life Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Provides financial assistance to cystic fibrosis and lung transplant patients. |
| Other resource N26 | The Victoria Foundation | http://members.lycos.co.uk/victoriafoundation/ The Victoria Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Helps young adults with Cystic Fibrosis and assist parents in caring for their son or daughter at home, with the support of the Southampton CF adult team. |
| Other resource N27 | Elizabeth Nash Foundation | http://elizabethnashfoundation.org Elizabeth Nash Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Supports causes reflective of Elizabeth Nash's interests and values with a specific emphasis on efforts that improve the lives of those affected by Cystic Fibrosis. |
| Other resource N28 | The Genentech Endowment for Cystic Fibrosis | http://www.genentechcfendowment.org The Genentech Endowment for Cystic Fibrosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations An independent, non-profit endowment dedicated to expanding access to Pulmozyme® (dornase alpha) therapy to qualifying un-insured and under-insured CF patients. Find the eligibility and how to apply. |
| Other resource N29 | BioSpace News: Cystic fibrosis | http://www.biospace.com/news_rxtarget.cfm?RxTargetID=63 BioSpace News: Cystic fibrosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/News_and_Media News on new developments with Cystic Fibrosis. Kept in an easy to use format with up-to-date links. |
| Other resource N30 | Sharktank.org | http://www.sharktank.org Sharktank.org | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research Dedicated research for a cure for cystic fibrosis. |
| Other resource N31 | AIR-CF | http://www.air-cf.com AIR-CF | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research Information resource for the Aztreonam Lysinate for Inhalation Research in Cystic Fibrosis clinical trials. |
| Other resource N32 | Hemochromatosis Education and Research | http://www.uwgi.org/hemochromatosis Hemochromatosis Education and Research | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Provides education, information and resources for health care providers, patients, and relatives of people with hereditary hemochromatosis. |
| Other resource N33 | Iron Overload, Public Health and Genetics | http://www.acponline.org/journals/annals/01dec98/supptoc.htm Iron Overload, Public Health and Genetics | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis A supplement to the Annals of Internal Medicine with articles about hemochromatosis. |
| Other resource N34 | Canadian Hemochromatosis Society | http://www.cdnhemochromatosis.ca/ Canadian Hemochromatosis Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Information about the symptoms, diagnosis and treatment of hemochromatosis. |
| Other resource N35 | Omim: Hemochromatosis | http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?235200 Omim: Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Detailed up-to-date scientific information on hemochromatosis. |
| Other resource N36 | Haemochromatosis Society UK | http://www.ghsoc.org/ Haemochromatosis Society UK | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Voluntary organisation for patients in England, Wales, Scotland and Northern Ireland. |
| Other resource N37 | Hemochromatosis Information Society | http://www.hemoinfo.org Hemochromatosis Information Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Offers information about the symptoms and treatment of hereditary hemochromatosis. |
| Other resource N38 | IPH-Net | http://iphnet.tripod.com IPH-Net | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Resources and information about Idiopathic Pulmonary Hemosiderosis, a very rare lung disorder affecting children and adults. |
| Other resource N39 | National Library of Medicine: Joubert syndrome | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html National Library of Medicine: Joubert syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Synonyms, a summary and a list of major features for this disorder. |
| Other resource N40 | The Genetics of Joubert Syndrome and Related Disorders | http://www.ccm.ucsd.edu/jsrd.htm The Genetics of Joubert Syndrome and Related Disorders | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information is presented for both physicians and families with affected children, including disease description, treatment options, prognosis, and current research. |
| Other resource N41 | MedicineNet | http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3382 MedicineNet | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia A brief article about familial hypercholesterolemia. |
| Other resource N42 | NORD: Crigler Najjar Syndrome Type I | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Crigler%20Najjar%20Syndrome%20Type%20I NORD: Crigler Najjar Syndrome Type I | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome General information and further resources. |
| Other resource N43 | NINDS: Coffin Lowry Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm NINDS: Coffin Lowry Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N44 | Klinefelter Syndrome Support | http://klinefeltersyndrome.org Klinefelter Syndrome Support | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Educational and support information about Klinefelter Syndrome/XXY and its variants. |
| Other resource N45 | Klinefelter's Syndrome gynecomastia | http://www.plasticsurgery4u.com/procedure_folder/male_breast4.html Klinefelter's Syndrome gynecomastia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Male chest recontouring for large male breasts (gynecomastia) found in Klinefelter's Syndrome with surgical reduction by excision and liposuction. Before and after photographs, links, movies, and patient question and answer boards. |
| Other resource N46 | American Association for Klinefelter Syndrome Information and Support (AAKSIS) | http://www.AAKSIS.org/ American Association for Klinefelter Syndrome Information and Support (AAKSIS) | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Email list, conference, membership, newsletter, regional groups and resource links. |
| Other resource N47 | My Klinefelter's Syndrome Page | http://www.geocities.com/WestHollywood/Castro/4998/klinefel.html My Klinefelter's Syndrome Page | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome David Brager's story, with information about Klinefelter's. |
| Other resource N48 | Klinefelter Syndrome - The Ohio Support Network | http://www.klinefelter-ohio.com Klinefelter Syndrome - The Ohio Support Network | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Specific health and educational resources for Ohio KS individuals and their families. Links to local and national healthcare, ongoing research, conferences, and support meetings. |
| Other resource N49 | The CaF Directory | http://www.cafamily.org.uk/Direct/b12.html The CaF Directory | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group. |
| Other resource N50 | Adam.com: An Overview | http://www.nlm.nih.gov/medlineplus/ency/article/001186.htm Adam.com: An Overview | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. |
| Other resource N51 | Beckwith-Wiedemann Support Group | http://www.ukindex.info/bwsg Beckwith-Wiedemann Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome UK based support group. Offers a database of information and puts parents in contact with others in their locality. |
| Other resource N52 | National Library of Medicine: FHS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome300.html National Library of Medicine: FHS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Floating-harbor syndrome, the synonyms, a summary and a list of major features. |
| Other resource N53 | Von Hippel-Lindau Family Alliance | http://www.vhl.org/ Von Hippel-Lindau Family Alliance | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Information about the organization and the disease. Includes FAQs, newsletter, handbook, meeting schedules and support group data. |
| Other resource N54 | Von Hippel-Lindau Disease | http://www.ninds.nih.gov/health_and_medical/disorders/vonhippe_doc.htm Von Hippel-Lindau Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke. |
| Other resource N55 | Medstudents | http://www.medstudents.com.br/raredi/raredi3.htm Medstudents | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and symptoms, and prognosis. |
| Other resource N56 | U-M Kellogg Eye Center | http://www.kellogg.umich.edu/patientcare/conditions/nail-patella.html U-M Kellogg Eye Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome Nail-patella syndrome: definition and treatment information, including surgery. A discussion about the strong evidence of a link between glaucoma and NPS. |
| Other resource N57 | Alpha 1 Awareness Alliance | http://www.kama.u-net.com Alpha 1 Awareness Alliance | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links. |
| Other resource N58 | Patient UK | http://www.patient.co.uk/showdoc.asp?doc=90 Patient UK | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency. |
| Other resource N59 | Alpha-1 Community | http://windless.f2o.org Alpha-1 Community | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Memebers can submit news, events, photos or any information relating to Alpha-1 Antitrypsin Deficiency. |
| Other resource N60 | The Natey Foundation | http://www.nateyfoundation.org/ The Natey Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Information for parents and families of Battens victims. |
| Other resource N61 | Nathan's Battle | http://www.nathansbattle.com Nathan's Battle | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Details a boy's fight against Batten's Disease and dedication to promote awareness to help find a cure. |
| Other resource N62 | The Luke and Rachel Batten Foundation | http://lrbf.org The Luke and Rachel Batten Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Created to engage in education and medical research toward diagnosis, treatment and/or cure of Juvenile neuronal ceroid lipofuscinosis (Batten disease) and to assist persons with the disease. |
| Other resource N63 | MedicineNet.com - Medical Dictionary | http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3721 MedicineNet.com - Medical Dictionary | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A brief article about hereditary angioedema. |
| Other resource N64 | C-1 Esterase Deficiency | http://www.emedicine.com/med/topic420.htm C-1 Esterase Deficiency | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema Article from eMedicine.com by Michael Elnicki MD on C-1 Esterase Deficiency also known as Hereditary angioedema (HAE). |
| Other resource N65 | Treacher Collins Syndrome - A Personal View | http://www.treachercollins.co.uk Treacher Collins Syndrome - A Personal View | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages UK based website, containing information about the disorder, with helpful links and discussion forum. |
| Other resource N66 | Robert Kenneth Picklesimer | http://www.picklesimers.com/robert_kenneth.html Robert Kenneth Picklesimer | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Born with Jeune Syndrome or Asphyxiating Thoracic Dystrophy in Louisville Kentucky. He underwent corrective surgery in San Antonio Texas, called the Titanium Rib Project. |
| Other resource N67 | Story of Robert Purkis | http://swpurkis.pwp.blueyonder.co.uk/index.html Story of Robert Purkis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages A small boy's health problems, possibly Leigh's Syndrome, and how his parents have helped him improve his quality of life. |
| Other resource N68 | Unlucky Mutant | http://unluckymutant.no.sapo.pt Unlucky Mutant | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages The author request help from geneticists, neuroscientists, pharmaceuticals or biotech companies. |
| Other resource N69 | Moebius Syndrome Foundation | http://www.ciaccess.com/moebius/ Moebius Syndrome Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Bringing together information from and links to medical and lay support for those affected by Moebius syndrome. |
| Other resource N70 | About.com with Laura L. Jelliffe, Ph.D. | http://genetics.about.com/science/genetics/library/blmob.htm About.com with Laura L. Jelliffe, Ph.D. | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Symptoms, diagnosis, and treatment of mobius syndrome. Information on research, community outreach and support. |
| Other resource N71 | National Library of Medicine: LS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html National Library of Medicine: LS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Lowe syndrome, the synonyms, a summary and list of major features. |
| Other resource N72 | THCME Medical Biochemistry Page: Fatty Acid Oxidation | http://web.indstate.edu/thcme/mwking/fatty-acid-oxidation.html THCME Medical Biochemistry Page: Fatty Acid Oxidation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation An introduction, mobilization of fat stores, oxidation reactions, alternative oxidation pathways, regulation of fatty acid metabolism, clinical aspects of fatty acid metabolism, ketogenesis, regulation of ketogenesis, and clinical significance of ketogenesis. |
| Other resource N73 | Adam's LCHAD Page | http://www.adamslchad.com Adam's LCHAD Page | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Online journal detailing the life of a boy with LCHAD which is a Fatty Acid Oxidation Disorder. Includes general information details about research studies. |
| Other resource N74 | Hemihypertrophy | http://www.geocities.com/HotSprings/Spa/6112 Hemihypertrophy | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy For patient and family, support and information regarding this disease. Related links and mailing list. |
| Other resource N75 | NORD: Meckel Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Meckel%20Syndrome NORD: Meckel Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A general discussion and alternate names along with further resources. |
| Other resource N76 | Dr. Greene's HouseCalls | http://www.drgreene.com/body.cfm?id=21&action=detail&ref=599 Dr. Greene's HouseCalls | Top/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. |
| Other resource N77 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome067.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Bloch-sulzberger syndrome, the synonyms, a summary and major features. |
| Other resource N78 | Vanderbilt Medical Center | http://www.mc.vanderbilt.edu/peds/pidl/nutrit/incont.htm Vanderbilt Medical Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti An article about incotinentia pigmenti. |
| Other resource N79 | Incontinentia Pigmenti: All About Anna | http://mom_2_three_ip.tripod.com/ Incontinentia Pigmenti: All About Anna | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti The authors' daughter was diagnosed with IP 6 weeks after birth. This is her story. |
| Other resource N80 | National Library of Medicine: Laurence-Moon Syndrome | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Laurence-Moon+syndrome&field=name National Library of Medicine: Laurence-Moon Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Laurence-Moon_Syndrome A look at its former names, a summary and a list of clinical features. |