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Agnosia
Aicardi Syndrome
Alström Syndrome
Barth Syndrome
Cerebrocostomandibular Syndrome
Cleidocranial Dysplasia
Cystinosis
Degos
Aicardi Syndrome
Alström Syndrome
Barth Syndrome
Cerebrocostomandibular Syndrome
Cleidocranial Dysplasia
Cystinosis
Degos
Aarskog Syndrome@
Aase Syndrome@
Abetalipoproteinemia@
Ablepharon-Macrostomia Syndrome@
Adie Syndrome@
Adrenoleukodystrophy@
Alagille Syndrome@
Alternating Hemiplegia@
Apert Syndrome@
Arthrogryposis@
Ataxia@
Bardet-Biedl Syndrome@
Behcet's Syndrome@
Blastomycosis@
Botulism@
Celiac@
Charcot-Marie-Tooth Disease@
Cockayne Syndrome@
Coffin Lowry Syndrome@
Cornelia De Lange Syndrome@
Corticobasal Degeneration@
Costello Syndrome@
Craniofrontonasal Dysplasia@
Crigler-Najjar Syndrome@
Cri du Chat Syndrome@
Cyclic Vomiting Syndrome@
Dandy Walker Syndrome@
Dercum Disease@
DiGeorge Syndrome@
Dubowitz Syndrome@
Dystonia@
Ehlers-Danlos Syndrome@
Fabry's@
Familial Dysautonomia@
Fanconi Anemia@
Fibrodysplasia Ossificans Progressiva@
Floating-Harbor Syndrome@
Friedreich Ataxia@
Galactosemia@
Gaucher's@
Gerstmann Syndrome@
Glutaricaciduria@
Guillain-Barre Syndrome@
Aase Syndrome@
Abetalipoproteinemia@
Ablepharon-Macrostomia Syndrome@
Adie Syndrome@
Adrenoleukodystrophy@
Alagille Syndrome@
Alternating Hemiplegia@
Apert Syndrome@
Arthrogryposis@
Ataxia@
Bardet-Biedl Syndrome@
Behcet's Syndrome@
Blastomycosis@
Botulism@
Celiac@
Charcot-Marie-Tooth Disease@
Cockayne Syndrome@
Coffin Lowry Syndrome@
Cornelia De Lange Syndrome@
Corticobasal Degeneration@
Costello Syndrome@
Craniofrontonasal Dysplasia@
Crigler-Najjar Syndrome@
Cri du Chat Syndrome@
Cyclic Vomiting Syndrome@
Dandy Walker Syndrome@
Dercum Disease@
DiGeorge Syndrome@
Dubowitz Syndrome@
Dystonia@
Ehlers-Danlos Syndrome@
Fabry's@
Familial Dysautonomia@
Fanconi Anemia@
Fibrodysplasia Ossificans Progressiva@
Floating-Harbor Syndrome@
Friedreich Ataxia@
Galactosemia@
Gaucher's@
Gerstmann Syndrome@
Glutaricaciduria@
Guillain-Barre Syndrome@
Gustatory Sweating@
Hallervorden-Spatz Syndrome@
Hemihypertrophy@
Hemophilia@
Hereditary Angioedema@
Hidradenitis Suppurativa@
Homocystinuria@
Horner Syndrome@
Huntington's@
Hydrocephalus@
Incontinentia Pigmenti@
Isaacs Syndrome@
Joubert Syndrome@
Kearns Sayre Syndrome@
Kernicterus@
Klippel-Feil Syndrome@
Kluver-Bucy Syndrome@
Laurence-Moon Syndrome@
Leigh's@
Lesch-Nyhan Syndrome@
Lissencephaly@
Lowe Syndrome@
Madelung's@
Mannosidosis@
Marfan Syndrome@
Mastocytosis@
Meige Syndrome@
Mobius Syndrome@
Multiple Hereditary Exostoses@
Myotonic Dystrophy@
Nail Patella Syndrome@
Narcolepsy@
Neurofibromatosis@
Neuroleptic Malignant Syndrome@
Niemann-Pick@
Noonan Syndrome@
Olivopontocerebellar Atrophy@
Opitz Syndrome@
Osteogenesis Imperfecta@
Pallister-Hall Syndrome@
Pallister Killian Mosaic Syndrome@
Pick Disease of the Brain@
POEMS Syndrome@
Hallervorden-Spatz Syndrome@
Hemihypertrophy@
Hemophilia@
Hereditary Angioedema@
Hidradenitis Suppurativa@
Homocystinuria@
Horner Syndrome@
Huntington's@
Hydrocephalus@
Incontinentia Pigmenti@
Isaacs Syndrome@
Joubert Syndrome@
Kearns Sayre Syndrome@
Kernicterus@
Klippel-Feil Syndrome@
Kluver-Bucy Syndrome@
Laurence-Moon Syndrome@
Leigh's@
Lesch-Nyhan Syndrome@
Lissencephaly@
Lowe Syndrome@
Madelung's@
Mannosidosis@
Marfan Syndrome@
Mastocytosis@
Meige Syndrome@
Mobius Syndrome@
Multiple Hereditary Exostoses@
Myotonic Dystrophy@
Nail Patella Syndrome@
Narcolepsy@
Neurofibromatosis@
Neuroleptic Malignant Syndrome@
Niemann-Pick@
Noonan Syndrome@
Olivopontocerebellar Atrophy@
Opitz Syndrome@
Osteogenesis Imperfecta@
Pallister-Hall Syndrome@
Pallister Killian Mosaic Syndrome@
Pick Disease of the Brain@
POEMS Syndrome@
Porencephaly@
Porphyrias@
Prader-Willi Syndrome@
Propionic Acidemia@
Proteus Syndrome@
Prune Belly Syndrome@
Pseudoxanthoma Elasticum@
Refsum's@
Retinoblastoma@
Rett's Syndrome@
Rickets@
Robinow Syndrome@
Russell Silver Syndrome@
Sanfilippo Syndrome@
Schizencephaly@
Shwachman Syndrome@
Smith-Magenis Syndrome@
Smith Lemli Opitz Syndrome@
Spina Bifida@
Stickler's Syndrome@
Stiff-Person Syndrome@
Sturge-Weber Syndrome@
Subacute Sclerosing Panencephalitis@
Tangier@
Tay-Sachs@
Thalassemia@
Thrombocytopenia Absent Radius Syndrome@
Tourette Syndrome@
Treacher Collins Syndrome@
Trichothiodystrophy@
Tuberous Sclerosis@
Turner Syndrome@
Usher Syndrome@
Velo-Cardio-Facial Syndrome@
Waardenburg Syndrome@
WAGR Syndrome@
Weaver Syndrome@
Williams Syndrome@
Wilson's Disease@
Xeroderma Pigmentosum@
Zellweger Syndrome@
Zollinger-Ellison Syndrome@
Porphyrias@
Prader-Willi Syndrome@
Propionic Acidemia@
Proteus Syndrome@
Prune Belly Syndrome@
Pseudoxanthoma Elasticum@
Refsum's@
Retinoblastoma@
Rett's Syndrome@
Rickets@
Robinow Syndrome@
Russell Silver Syndrome@
Sanfilippo Syndrome@
Schizencephaly@
Shwachman Syndrome@
Smith-Magenis Syndrome@
Smith Lemli Opitz Syndrome@
Spina Bifida@
Stickler's Syndrome@
Stiff-Person Syndrome@
Sturge-Weber Syndrome@
Subacute Sclerosing Panencephalitis@
Tangier@
Tay-Sachs@
Thalassemia@
Thrombocytopenia Absent Radius Syndrome@
Tourette Syndrome@
Treacher Collins Syndrome@
Trichothiodystrophy@
Tuberous Sclerosis@
Turner Syndrome@
Usher Syndrome@
Velo-Cardio-Facial Syndrome@
Waardenburg Syndrome@
WAGR Syndrome@
Weaver Syndrome@
Williams Syndrome@
Wilson's Disease@
Xeroderma Pigmentosum@
Zellweger Syndrome@
Zollinger-Ellison Syndrome@
Today's News:
National Institutes of Health (NIH) News Releases
Bacterial Pneumonia Caused Most Deaths in 1918 Influenza Pandemic
Tue, 19 Aug 2008 09:00:00 -0400
The majority of deaths during the influenza pandemic of 1918-1919 were not caused by the influenza virus acting alone, report researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. Instead, most victims succumbed to bacterial pneumonia following influenza virus infection. The pneumonia was caused when bacteria that normally inhabit the nose and throat invaded the lungs along a pathway created when the virus destroyed the cells that line the bronchial tubes and lungs.
Largest Study of Its Kind Implicates Gene Abnormalities in Bipolar Disorder
Mon, 18 Aug 2008 14:25:00 -0400
The largest genetic analysis of its kind to date for bipolar disorder has implicated machinery involved in the balance of sodium and calcium in brain cells. Researchers supported in part by the National Institute of Mental Health, part of the National Institutes of Health, found an association between the disorder and variation in two genes that make components of channels that manage the flow of the elements into and out of cells, including neurons.
Alternative Vaccine Strategy Shows Promise in Prostate Cancer Patients
Fri, 15 Aug 2008 09:05:00 -0400
New research indicates that giving patients a continuous low dose of an immune system booster, a method known as metronomic dosing, as part of a therapeutic prostate cancer vaccine strategy is safe and produces similar immune responses and fewer side effects than the more common dosing method, which is not well tolerated by many patients. This study, led by researchers at that National Cancer Institute (NCI), part of the National Institutes of Health, was published in the Aug. 15, 2008, issue of "Clinical Cancer Research."
CNN.com - Health
Survey: Many believe in divine intervention
Tue, 19 Aug 2008 16:12:15 -0400
Read full story for latest details.
Study probes water-arsenic-diabetes link
Tue, 19 Aug 2008 18:13:36 -0400
Read full story for latest details.
Subscribe to Rare_Disorders RSS feed 
Bacterial Pneumonia Caused Most Deaths in 1918 Influenza Pandemic
Tue, 19 Aug 2008 09:00:00 -0400
The majority of deaths during the influenza pandemic of 1918-1919 were not caused by the influenza virus acting alone, report researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. Instead, most victims succumbed to bacterial pneumonia following influenza virus infection. The pneumonia was caused when bacteria that normally inhabit the nose and throat invaded the lungs along a pathway created when the virus destroyed the cells that line the bronchial tubes and lungs.
Largest Study of Its Kind Implicates Gene Abnormalities in Bipolar Disorder
Mon, 18 Aug 2008 14:25:00 -0400
The largest genetic analysis of its kind to date for bipolar disorder has implicated machinery involved in the balance of sodium and calcium in brain cells. Researchers supported in part by the National Institute of Mental Health, part of the National Institutes of Health, found an association between the disorder and variation in two genes that make components of channels that manage the flow of the elements into and out of cells, including neurons.
Alternative Vaccine Strategy Shows Promise in Prostate Cancer Patients
Fri, 15 Aug 2008 09:05:00 -0400
New research indicates that giving patients a continuous low dose of an immune system booster, a method known as metronomic dosing, as part of a therapeutic prostate cancer vaccine strategy is safe and produces similar immune responses and fewer side effects than the more common dosing method, which is not well tolerated by many patients. This study, led by researchers at that National Cancer Institute (NCI), part of the National Institutes of Health, was published in the Aug. 15, 2008, issue of "Clinical Cancer Research."
CNN.com - Health
Survey: Many believe in divine intervention
Tue, 19 Aug 2008 16:12:15 -0400
Read full story for latest details.
Study probes water-arsenic-diabetes link
Tue, 19 Aug 2008 18:13:36 -0400
Read full story for latest details.

Sites:
National Organization for Rare Disorders, Inc.: National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases.Cherubs: Support and Research Organization for families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia (CDH)
Contact a Family: Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders.
Fibrous Dysplasia Support Online: Site is dedicated to providing support for individuals and families seeking answers on Fibrous Dysplasia, a rare bone disease that effects children.
Human Growth Foundation: helping adults and parents of children with disorders of growth and growth hormone through research, education, support, and advocacy
Information Centre for Rare Diseases and Orphan Drugs: Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) in Bulgaria - the first Eastern European information and educational service, dedicated to all patients, associations and medical professionals, interested in rare diseases and orphan drugs. The centre is situated in Plovdiv (Bulgaria...
Kindler Syndrome: An article and case study of this rare disease. Includes links.
Lymphangiomatosis and Gorham's Vanishing Bone Disease: This page is made by a small family in Denmark, because our son has been diagnosed with the
Nomid /Cinca: Resource for parents and patients suffering from Neonatal Onset Multi-inflammatory Disease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome. Site maintained by patients, parents and friends for their counterparts worldwide. Email support group at eGroups.
Office of Rare Diseases: Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.
Tetrahydrobiopterin: BH4 - Tetrahydrobiopterin Deficiencies
