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"

6 matching diseasesClear search ×

Ascher syndrome

Blepharochalasis-double lip syndrome

ORPHA:1253

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

ORPHA:8

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

ORPHA:2728

Isolated blepharochalasis

ORPHA:519390

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869