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CDC/NIH Web Information
Thoughts from the Front Lines of Rare Disease Research NIH Directors Blog, February 28, 2019
Nitisinone increases melanin in people with albinism NIH News Release, February 20, 2019
Rare Diseases Are Not Rare! C Austin, NIH, February 2019
Rare Disease Day at NIH 2019 NIH, 2019
Rare Disease 2019 Information Packet  NIH, October 2018
Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations AM Issa et al, Genetics in Medicine, July 10, 2018
Notice of Intent to Publish a Funding Opportunity Announcement for Rare Disease Cohorts in Heart, Lung, Blood and Sleep Disorders NHLBI, Apr 2018
Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy F Collins, NIH Director's blog, Nov 21, 2017
Molecular Answers Found for a Mysterious Rare Immune Disorder Francis Collins, NIH Director, Blog Post, March 29, 2016
February is American Heart Month. What are rare diseases involving the heart.  NIH Office of Rare Diseases
Research Round-up: Rare Disease Research Researchers seek to expand our understanding and develop new treatments, NICHD< February 1, 2016
Rare Disease Day at NIH On February 27, 2015, the National Institutes of Health (NIH) will celebrate the eighth annual Rare Disease Day with a day-long celebration
Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia From NCATS Genetic and Rare Diseases Information Center
Dextrocardia with unusual facies and microphthalmia From NCATS Genetic and Rare Diseases Information Center
Spondyloepimetaphyseal dysplasia Strudwick type From NCATS Genetic and Rare Diseases Information Center
Aganglionosis, total intestinal From NCATS Genetic and Rare Diseases Information Center
Primary cutaneous amyloidosis From NCATS Genetic and Rare Diseases Information Center
Florid cystic endosalpingiosis of the uterus From NCATS Genetic and Rare Diseases Information Center
Summitt syndrome From NCATS Genetic and Rare Diseases Information Center
Acrokeratoelastoidosis of Costa From NCATS Genetic and Rare Diseases Information Center
Allain-Babin-Demarquez syndrome From NCATS Genetic and Rare Diseases Information Center
Singleton-Merten syndrome From NCATS Genetic and Rare Diseases Information Center
Facial ectodermal dysplasia From NCATS Genetic and Rare Diseases Information Center
Sennetsu Fever From NCATS Genetic and Rare Diseases Information Center
Ulnar-mammary syndrome From NCATS Genetic and Rare Diseases Information Center
Schinzel Giedion syndrome From NCATS Genetic and Rare Diseases Information Center
Schindler disease type 1 From NCATS Genetic and Rare Diseases Information Center
Sakati syndrome From NCATS Genetic and Rare Diseases Information Center
Retinopathy, arteriosclerotic From NCATS Genetic and Rare Diseases Information Center
Respiratory distress syndrome, infant From NCATS Genetic and Rare Diseases Information Center
Recurrent respiratory papillomatosis From NCATS Genetic and Rare Diseases Information Center
Progressive osseous heteroplasia From NCATS Genetic and Rare Diseases Information Center
Adult polyglucosan body disease From NCATS Genetic and Rare Diseases Information Center
Pneumonia, eosinophilic From NCATS Genetic and Rare Diseases Information Center
Oculocerebrocutaneous syndrome From NCATS Genetic and Rare Diseases Information Center
Oculocerebral syndrome with hypopigmentation From NCATS Genetic and Rare Diseases Information Center
Ochoa syndrome From NCATS Genetic and Rare Diseases Information Center
Neu Laxova syndrome From NCATS Genetic and Rare Diseases Information Center
Centronuclear myopathy From NCATS Genetic and Rare Diseases Information Center
Myasthenia gravis congenital From NCATS Genetic and Rare Diseases Information Center
Mulibrey Nanism From NCATS Genetic and Rare Diseases Information Center
Mucolipidosis type 4 From NCATS Genetic and Rare Diseases Information Center
Monilethrix From NCATS Genetic and Rare Diseases Information Center
Meleda disease From NCATS Genetic and Rare Diseases Information Center
Malignant melanoma, childhood From NCATS Genetic and Rare Diseases Information Center
Lymphoma, gastric non Hodgkins type From NCATS Genetic and Rare Diseases Information Center
Leri pleonosteosis From NCATS Genetic and Rare Diseases Information Center
Lenz microphthalmia syndrome From NCATS Genetic and Rare Diseases Information Center
Chudley-Mccullough syndrome From NCATS Genetic and Rare Diseases Information Center
Thanatophoric dysplasia From NCATS Genetic and Rare Diseases Information Center
Congenital generalized lipodystrophy type 1 From NCATS Genetic and Rare Diseases Information Center
Kenny-Caffey syndrome type 2 From NCATS Genetic and Rare Diseases Information Center
KBG syndrome From NCATS Genetic and Rare Diseases Information Center
Juberg Marsidi syndrome From NCATS Genetic and Rare Diseases Information Center
Johanson-Blizzard syndrome From NCATS Genetic and Rare Diseases Information Center
Jansen type metaphyseal chondrodysplasia From NCATS Genetic and Rare Diseases Information Center
Hypohidrotic ectodermal dysplasia From NCATS Genetic and Rare Diseases Information Center
Immunodeficiency with hyper IgM type 1 From NCATS Genetic and Rare Diseases Information Center
Human monocytic ehrlichiosis From NCATS Genetic and Rare Diseases Information Center
Human granulocytic ehrlichiosis From NCATS Genetic and Rare Diseases Information Center
Hemangioma thrombocytopenia syndrome From NCATS Genetic and Rare Diseases Information Center
Hantavirus pulmonary syndrome From NCATS Genetic and Rare Diseases Information Center
Hanhart syndrome From NCATS Genetic and Rare Diseases Information Center
Gouty nephropathy, familial From NCATS Genetic and Rare Diseases Information Center
Gorlin Chaudhry Moss syndrome From NCATS Genetic and Rare Diseases Information Center
Galloway-Mowat syndrome From NCATS Genetic and Rare Diseases Information Center
Fountain syndrome From NCATS Genetic and Rare Diseases Information Center
Filippi syndrome From NCATS Genetic and Rare Diseases Information Center
Femoral facial syndrome From NCATS Genetic and Rare Diseases Information Center
Iridocorneal endothelial syndrome From NCATS Genetic and Rare Diseases Information Center
Spinocerebellar ataxia 34 From NCATS Genetic and Rare Diseases Information Center
Duodenal atresia From NCATS Genetic and Rare Diseases Information Center
De Barsy syndrome From NCATS Genetic and Rare Diseases Information Center
Cytochrome c oxidase deficiency From NCATS Genetic and Rare Diseases Information Center
Crigler Najjar syndrome, type 1 From NCATS Genetic and Rare Diseases Information Center
Corticobasal degeneration From NCATS Genetic and Rare Diseases Information Center
Congenital varicella syndrome From NCATS Genetic and Rare Diseases Information Center
Haim-Munk syndrome From NCATS Genetic and Rare Diseases Information Center
Mosaic trisomy 9 From NCATS Genetic and Rare Diseases Information Center
Tetrasomy 9p From NCATS Genetic and Rare Diseases Information Center
WT limb blood syndrome From NCATS Genetic and Rare Diseases Information Center
Chromosome 3p deletion From NCATS Genetic and Rare Diseases Information Center
Chromosome 18p tetrasomy From NCATS Genetic and Rare Diseases Information Center
Serpiginous choroiditis From NCATS Genetic and Rare Diseases Information Center
Cholecystitis From NCATS Genetic and Rare Diseases Information Center
CHARGE syndrome From NCATS Genetic and Rare Diseases Information Center
Catel Manzke syndrome From NCATS Genetic and Rare Diseases Information Center
Cat scratch disease From NCATS Genetic and Rare Diseases Information Center
Cat eye syndrome From NCATS Genetic and Rare Diseases Information Center
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 From NCATS Genetic and Rare Diseases Information Center
Bjornstad syndrome From NCATS Genetic and Rare Diseases Information Center
Dihydropyrimidine dehydrogenase deficiency From NCATS Genetic and Rare Diseases Information Center
Arachnoid cysts From NCATS Genetic and Rare Diseases Information Center
Oculomotor apraxia Cogan type From NCATS Genetic and Rare Diseases Information Center
Gillespie syndrome From NCATS Genetic and Rare Diseases Information Center
Hypersensitivity pneumonitis From NCATS Genetic and Rare Diseases Information Center
Alternating hemiplegia of childhood From NCATS Genetic and Rare Diseases Information Center
Agnosia From NCATS Genetic and Rare Diseases Information Center
Acromicric dysplasia From NCATS Genetic and Rare Diseases Information Center
Acromesomelic dysplasia From NCATS Genetic and Rare Diseases Information Center