site URL - http://www.neuro.jhmi.edu/HopkinsSWSCenter/index.htm
Site description: Clinical center dedicated to the treatment and study of SWS at Johns Hopkins Hospital in Baltimore. Find disease information, diagnosing, and treatment as well as details about the facility.
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| LINK | URI & TITLE | DESCRIPTION & TOPIC | |
| Previous 10 | National Library of Medicine: OS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html National Library of Medicine: OS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Opitz syndrome, the synonyms, a summary and a list of major features. |
| Previous | NORD: Sturge Weber Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sturge%20Weber%20Syndrome NORD: Sturge Weber Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Sturge-Weber_Syndrome Offers a list of synonyms, a general discussion and further resources. |
| Random 1 | Menlo Medical Clinic | http://www.execmd.com/ Menlo Medical Clinic | Top/Regional/North_America/United_States/California/Localities/M/Menlo_Park/Health Offers an Executive Health Program and is affiliated with Stanford University Medical Center. |
| Random 2 | Sabiba | http://www.futurevisions.net/sabiba/ Sabiba | Top/Arts/Performing_Arts/Dance/Middle_Eastern/Teachers_and_Performers/United_States/California Featuring Sabiba from San Jose, California. Has some streaming video clips of Sabiba dancing. |
| Random 3 | Centre for Molecular Medicine and Therapeutics | http://www.cmmt.ubc.ca/ Centre for Molecular Medicine and Therapeutics | Top/Science/Biology/Biochemistry_and_Molecular_Biology/Institutions/Research_Groups The CMMT is a site for research on the determination and control of genetic susceptibility to disease. Lists core facilities, laboratories, staff and news from Vancouver, British Columbia. |
| Random 4 | St. John's Health System | http://www.stjohns.com/ St. John's Health System | Top/Regional/North_America/United_States/Missouri/Localities/R/Republic/Health St. John's, a Christian-based hospital located in Springfield, Missouri, also serves the health needs of Republic residents. Use their web site to find a doctor, read current hospital news, obtain contact information, or find a career. Also offers a "web nursurey" for viewing newborns online. |
| Random 5 | Houston Swing Dance Society | http://www.hsds.org Houston Swing Dance Society | Top/Arts/Performing_Arts/Dance/Swing/Regional A non-profit, educational organization, dedicated to the preservation and enjoyment of swing dancing. |
| Next | NORD: Prune Belly Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Prune%20Belly%20Syndrome NORD: Prune Belly Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Prune_Belly_Syndrome Offers a list of synonyms, a general discussion and further resources. |
| Next 10 | Schizencephaly.com | http://www.schizencephaly.com Schizencephaly.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Schizencephaly Dedicated to the family, friends, and caregivers of individuals with Schizencephaly. FAQs, forum, and resources. |
| Random 1 | Van Eaton Galleries | http://vegalleries.com/ Van Eaton Galleries | Top/Arts/Animation/Collectibles/Animation_Art/Dealers Full service animation art gallery and resource center featuring production artwork, limited editions, sculpture, videos, books, reference, and cels & sericels form all major studios. |
| Random 4 | Indian Institute of Health Management Research | http://www.iihmr.org/ Indian Institute of Health Management Research | Top/Regional/Asia/India/Rajasthan/Localities/Jaipur/Health Principal activities are research and consultancy, education and training, and institutional networking. Major current projects and activities are described. |
| Random 4 | Klinik for Klassisk Homøopati og Naturhelbredelse | http://www.homeopati-fyn.dk/ Klinik for Klassisk Homøopati og Naturhelbredelse | Top/World/Dansk/Sundhed/Alternativ/Homøopati/Behandlere Ved klassisk homøopat Merete Klinkvort. Generel information, behandling, priser, medicin og patienthistorier. |
| Next 70 | Propionic Acidemia Foundation | http://pafoundation.com Propionic Acidemia Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Propionic_Acidemia The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of metabolism. |
| Previous 70 | 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. |
| Next 170 | V I P News | http://www.vipnews.org.uk V I P News | Top/Health/Conditions_and_Diseases/Eye_Disorders/Blindness A voluntary site for daily updated links to related news stories from around the world. |
| Previous 170 | Klinefelter Syndrome | http://www.emedicine.com/PED/topic1252.htm Klinefelter Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Overview and medical information. |
| Next 270 | |||
| Previous 270 | HOPGENE | http://www.hopkins-genomics.org/cf/cf_research.html HOPGENE | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Cystic Fibrosis Genomic Research at Johns Hopkins University. |
| Other resource N0 | 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 N1 | 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 N2 | 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 N3 | 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 N4 | 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 N5 | 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 N6 | 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 N7 | 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 N8 | 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 N9 | 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 N10 | 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 N11 | 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 N12 | 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 N13 | 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 N14 | 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 N15 | 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 N16 | 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 N17 | 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 N18 | 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 N19 | 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 N20 | 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 N21 | 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 N22 | 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 N23 | 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 N24 | 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 N25 | 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 N26 | 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 N27 | 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 N28 | 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 N29 | 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 N30 | 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 N31 | 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 N32 | 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 N33 | 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 N34 | 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 N35 | 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 N36 | 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 N37 | 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 N38 | 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 N39 | 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 N40 | 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 N41 | 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 N42 | 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 N43 | 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 N44 | 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 N45 | 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 N46 | 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 N47 | 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 N48 | 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 N49 | 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 N50 | 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 N51 | 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 N52 | 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 N53 | 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 N54 | 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 N55 | 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 N56 | 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 N57 | 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 N58 | 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 N59 | 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 N60 | 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 N61 | 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 N62 | 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 N63 | 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 N64 | 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 N65 | 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 N66 | 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. |
| Other resource N67 | National Urea Cycle Disorders Foundation | http://www.nucdf.org/ National Urea Cycle Disorders Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information. |
| Other resource N68 | The FSP Support Group | http://www.fspgroup.org The FSP Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details. |
| Other resource N69 | Spastic Paraplegia Foundation | http://sp-foundation.org/ Spastic Paraplegia Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia Supports on the upper motor neuron disorders hereditary spastic paraplegia and primary lateral sclerosis. Information about these conditions, disability resources, newsletters, news, announcements, research and support. |
| Other resource N70 | MCW Healthlink | http://healthlink.mcw.edu/article/921961934.html MCW Healthlink | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome An article about soto's syndrome with an explanation of what it is, the features, symptoms and the prognosis. |
| Other resource N71 | International Society for Mannosidosis & Related Diseases | http://www.mannosidosis.org International Society for Mannosidosis & Related Diseases | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mannosidosis Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders. |
| Other resource N72 | Justin Comeau | http://personal.nbnet.nb.ca/justin03/ Justin Comeau | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome A personal page about a little boy who has Zellweger syndrome. Offers family pictures, information about the disease and the personal story of Justin. |
| Other resource N73 | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Weaver+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Synonyms of Weaver syndrome, a summary and a list of major features. |
| Other resource N74 | 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. |
| Other resource N75 | The Andy Fund | http://www.andy.org.mx The Andy Fund | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Describes the health condition of a boy who was born with ectodermal dysplasia with immune deficiency caused by a mutation on the fourth part of the NEMO gene. |
| Other resource N76 | Ectodermal Dysplasia Society | http://www.ectodermaldysplasia.org/ Ectodermal Dysplasia Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Information about the organization as well as the ED condition. Includes links, news articles and contact details. |
| Other resource N77 | 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. |
| Other resource N78 | MJD Fact Sheet | http://glawen.freeyellow.com/joseph3.htm MJD Fact Sheet | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph In depth look at machado-joseph disease with some resources for further reading. |
| Other resource N79 | NINDS: Lesch-Nyhan Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm NINDS: Lesch-Nyhan Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lesch-Nyhan_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N80 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Dubowitz_Syndrome Dubowitz syndrome, a look at the synonyms, a summary and list of major features. |