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 ×

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François

ORPHA:98972

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

ORPHA:79172