Rare Disease Library

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"

3 matching diseasesClear search ×

C syndrome

OTCS · Opitz C trigonocephaly

ORPHA:1308

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

ORPHA:97297

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

ORPHA:3366