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"

50 matching diseasesClear search ×

Proboscis lateralis

Congenital tubular nose

ORPHA:141099

Tritanopia

Blue colour blindness · Congenital tritanopia

ORPHA:88629