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"

7 matching diseasesClear search ×

Rare disorder with lens opacification

Rare cataract

ORPHA:98640

Cerulean cataract

Blue-dot cataract

ORPHA:98989

Coralliform cataract

ORPHA:98990

OBSOLETE: Rare non-syndromic cataract

ORPHA:217049

Pulverulent cataract

Dusty cataract · Coppock-like cataract

ORPHA:98984

Rare central precocious puberty

Gonadotropin-dependant precocious puberty · Rare CPP

ORPHA:650063

Syndromic cataract

ORPHA:98641