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 ×

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Ascher syndrome

Blepharochalasis-double lip syndrome

ORPHA:1253

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

ORPHA:1251