Office of Rare Diseases
Information on more than 6000 rare diseases, including current research, publications
from scientific and medical journals, completed research, ongoing studies, ...

  • | More than 6, 000 rare diseases and related conditions with links to select government databases

    European Organization for Rare Diseases
    Alliance of patient associations dedicated to improving the quality of life of
    all people living with rare diseases in Europe.

    Genetic Conditions Rare Conditions
    Lay advocacy and support groups, information on genetic conditions birth defects
    for professionals, educators, and individuals.

    Information Centre for Rare Diseases and Orphan Drugs
    Offers an Internet portal. Includes news, forums, rare disease and orphan drug
    info and registration forms.

  • info: RARE DISEASE

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    New Zealand Organisation for Rare Disorders (NZORD)
    Rare disease information gateway, support groups directory, practical advice,
    health and disability resources, research information, news and issues.

  • NZORD, the New Zealand Organisation for Rare Disorders, provides New Zealand's central starting point for information about rare diseases

    NORD - National Organization for Rare Disorders, Inc.
    A general discussion, the synonyms and further resources.

    The Elephant Man's Bones Reveal Mystery
    Article on the Elephant Man's true disorder.

  •  You are here: >>> > > FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter!   Search Joseph Merrick, the "Elephant Man" Elsewhere on the Web Elsewhere on the Web Most Popular Related Topics The Elephant Man's Bones Reveal Mystery From, Your Guide to

  • Unfortunately, even today people still (wrongly) call neurofibromatosis the "Elephant Man disease." It wasn't until 1996 that the answer to what affected Merrick was found

    CancerWise - August 2006 - Rare Breast Cancer Has Unusual Symptoms
    Monthly electronic publication containing information about current advances in
    cancer prevention, treatment and research.

  • Benefits

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    International Center for Disease Support
    The Global Health Network is dedicated to providing support groups for people
    affected by various diseases and disorders. The GHN offers support groups serving ...

    Neonatal Diseases and Abnormalities
    Comprehensive list of links from Karolinska Institutet, Sweden.

  • Find books, journals and articles / / Biomedical Links Biomedical Links Diseases and Disorders - Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider

  • Contents: - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Congenital, Hereditary, and Neonatal Diseases and Abnormalities The - NIH (US) The US , including a , and a [in Italian] - InformaGene (IT) A [B Mertz] - Access Excellence [J Frezal] - Univ Rene Descartes, Paris (FR) [rare diseases] - (FR) A - Spamgid.com On - CDC (US) [images; EC Klatt] [annotated links] - Lets Face It I.B.I.S

  • (US) Ivemark Syndrome (not on MeSH) [OMIM; McKusik] - NCBI (US) About About [M Kumar] - eMedicine Skin Abnormalities Ectodermal Dysplasia See Incontinentia Pigmenti See Urogenital Abnormalities Sex Differentiation Disorders Gonadal Dysgenesis Turner Syndrome See Klinefelter Syndrome See Fetal Diseases [editorial] - BMJ, Feb 2001 Fetal Alcohol Syndrome The About - U of Oklahoma (US) The at Univ of Washington (US) Branch at CDC (US) - The TRIUMF Project (CA) [K Shea] On - (US) Genetic Diseases, Inborn , about and the [OMIM; VA McKusik et al.] - NCBI/NLM (US) - Univ of Utah, SOM/Genetics (US) [links ; D Collins] - KUMC (US) from Emory Univ

    Crigler-Najjar Syndrome
    Explains this rare disorder, including the two types, diagnosis, experimental
    treatment, and related links.

  • Some puzzling features of these diseases have been clarified since the discovery of the uridine diphosphate glucuronyl transferase 1 () gene complex

  • Contents [] Crigler-Najjar syndrome, type I This is a very rare disease (estimated at 0.6 - 1.0 per million live births), and increases the risk of this condition (other rare diseases may also be present)

    WHO: Botulism
    Factsheet from the World Health Organization.

  • Botulism Fact Sheet No 270 Revised August 2002 Overview: Human botulism is a serious but relatively rare disease

  • The disease is an intoxication caused by extremely potent toxins preformed in foods

  • The disease can be fatal in 5 to 10% of cases

  • The disease can progress to weakness in the neck and arms, after which the respiratory muscles and muscles of the lower body are affected

  • Wound botulism is a rare disease and occurs when the spores get into an open wound and are able to reproduce in an anaerobic environment


    Emerging Worlds, Dercum's Disease page
    The site explores the possibility that chronic diseases are caused by stealth
    viruses, and that Dercum's Disease fits in that category.

  • Dercums Disease/Adiposis Dolorosa First identified by Francis X

  • Dercum, in 1892, Dercums Disease (also Dercum Disease or Adiposis Dolorosa) is described several ways in the literature

  • Here are two: 'A disease accompanied by painful localized fatty swellings and by various nerve lesions

  • It is usually seen in women and may cause death from pulmonary complications.' (Dorland, 27th ed) [This definition is found in National Library of Medicine: IGM Metathesaurus Information.] Paraphrasing the National Organization of Rare Diseases (NORD): 'Dercums Disease is a rare disorder in which there are fatty deposits which apply pressure to the nerves, resulting in weakness and pain

  • The swelling may disappear without treatment, leaving hardened tissue or pendulous skin folds.' Morbus Dercum (Adiposis dolorosa) is a chronic disease with mild to intensive pain in the fatty tissue, fatigue and obesity as the most apparent symptoms

  • But the disease affects the entire body and can present a long list of symptoms

  • Dercums Disease, was originally described in the medical literature in 1892 by the American doctor Frances Xavier Dercum

    Cystinosis Research Foundation
    Natalie's Wish is a non-profit organization. Their mission is to fund research
    to find better medications and ultimately a cure for this condition.

    Children's Angel Flight
    Arranges and provides for child patient travel.

  • Headlines Child With Rare Disease Flown Back and forth To Clinical Trial at Shands Hospital, University of Florida

  • Sandra was diagnosed with a rare disease named Congenital Lactic Acidosis

  • There are about 300 new cases of this disease in the U.S

  • Ohio Child Flown Back and Forth to Johns Hopkins Hospital in Baltimore Tanya, a four year old child with a rare disease, is flown by CAF back and forth between home in Ohio and Johns Hopkins Hospital in Baltimore, Maryland on a fairly regular basis for specialized treatments available only either in Baltimore or in Los Angeles, California

    BMC Neurology
    BioMedCentral Neurology publishes original research articles in all aspects of
    the prevention, diagnosis and management of neurological disorders, ...

  •  Research highlights    BMC Neurology 2006, 6 :19 Monthly intravenous methylprednisolone causes a significant decrease in the number and volume of brain lesions in multiple sclerosis patients, with no adverse effects, suggesting effectiveness as a relapse-preventing treatment BMC Neurology 2006, 6 :17 Optimized voxel-based morphometry detects a reduction in grey matter volume bilaterally in the pre- and postcentral gyrus of amyotrophic lateral sclerosis patients, providing further evidence for widespread extramotor disease involvement

    Genetics and Genealogy
    Essential connections to major online directories.

  • CURRENT MEDICAL INFORMATION - CURRENT HEALTH NEWS : * * * * * * * * * * Biographical dictionary of medical eponyms, or names of drugs, structures, or diseases based on or derived from the name of a particular person

  • : * - * * * * Research on Mutant Genes and Hereditary Diseases

  • * * * When investigators attempt to document and study the natural history of an inherited disease, condition, or characteristic, they do so by identifying individual members of families presenting the disease, condition, or characteristic and obtaining information about them and the other members of their family

  • The result is a pedigree analysis, which, in addition to tracing the natural history of a disease and documenting the range of symptoms involved, may also reveal information about family members that individual members may not have known about previously (e.g., the existence of previously unknown relatives or the presence of stigmatizing diseases, such as mental illness)

  • * Welcome Center, QuickN'Dex, Site Search, Free Medline, Disease Center, Alternative Med., Referral Network, Health Columns, Global Calendar, Discussion, Cybrarian, Professional Ctr., Free Newsletter, Opportunities and Bookstore

    Mixed Connective Tissue Disorder
    An autoimmune process with symptoms of Scleroderma, Systemic Lupus Erythematosus ,
    Rheumatoid Arthritis and/or other autoimmune diseases.

    Orthostatic Tremor
    Updated information, treatments, coping and experiences related to orthostatic tremor.

  • OT is a slow, progressive disease and the cause is unknown

  • Each message increases our circle of friends and it may help to provide common pieces to the puzzle of this disease

  • 63 patients aged 59.4 years (SD, 16 years): 34 essential tremor, 16 Parkinson s disease tremor, 10 multiple sclerosis tremor, 4 writing tremor and 3 orthostatic tremor

  • " A nice overview of various tremors and their symptoms A more indepth look at the classification of tremors, Another good reference on classification of tremors ORGANIZATIONS AND GROUPS The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them

  • Office of Rare Diseases (ORD), National Institutes of Health The goals of ORD are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients who have any one of the more than 6, 000 rare diseases known today

    Ryan's Hope Foundation
    Ryan McDonald is a 9 year old boy with Kearns-Sayre Syndrome. This site is to
    educate the public about Ryan and his struggle with this disorder, ...


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