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"

3 matching diseasesClear search ×

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

ORPHA:98873

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

ORPHA:137

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

ORPHA:370924