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"

2 matching diseasesClear search ×

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

ORPHA:1154

Acromelic dysplasia

ORPHA:93436