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 ×

Rare genetic disorder with entropion

ORPHA:522530

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

ORPHA:400003

Rare genetic disorder with strabismus

ORPHA:522518

Syndromic genetic disorder with strabismus

ORPHA:522520