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"

4 matching diseasesClear search ×

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Cryptophthalmia

ORPHA:98562

Nanophthalmos

Nanophthalmia

ORPHA:35612

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

ORPHA:3374