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"

4 matching diseasesClear search ×

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

ORPHA:397922

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

ORPHA:79493

Neurocutaneous syndrome with epilepsy

ORPHA:166466

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

ORPHA:1647