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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Spina bifida and other spinal dysraphisms
Isolated spina bifida · Isolated spinal dysraphism
Closed spinal dysraphism
Spina bifida occulta · Closed spina bifida
Dysraphic spinal cord lipoma
Isolated delta-storage pool disease
Isolated delta-SPD · Isolated dense-SPD
Isolated dystonia
Pure dystonia
Open spinal dysraphism
Spina bifida aperta · Open spina bifida