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"

2 matching diseasesClear search ×

Progressive osseous heteroplasia

Familial ectopic ossification · POH

ORPHA:2762

Isolated ectopia lentis

Ectopia lentis syndrome · Familial ectopia lentis

ORPHA:1885