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 ×

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

Congenital laryngeal cyst

ORPHA:141124

Isolated congenital megalocornea

Congenital anterior megalophthalmia

ORPHA:91489