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Disorder Definitions
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Disorder Definitions
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Resources
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz/RSH Foundation
Sjögren-Larsson Syndrome
United Leukodystrophy Foundation
Foundation for Ichthyosis & Related Skin Types
Mevalonate Kinase Deficiency/HIDS
Autoinflammatory Alliance
Congenital Disorders of Glycosylation
RareConnect
Sitosterolemia
Sitosterolemia Foundation - Coming Soon
Cerebrotendinous Xanthomatosis
United Leukodystrophy Foundation
Peroxisomal Biogenesis Disorders
Global Foundation for Peroxisomal Disorders
NIH Undiagnosed Disease Program
National Organization for Rare Disorders (NORD)
Office for Human Research Protections
Genetics Home Reference
Genetic Alliance
Clinicaltrials.gov
Office of Rare Diseases Research, NCATS