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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"
Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion · Congenital fused cervical segments
Congenital cervical spinal stenosis
Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine
Congenital short QT syndrome
Congenital SQTS