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 ×

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184

Sebocystomatosis

Steatocystoma multiplex

ORPHA:841

Cutaneous mastocytoma

Cutaneous local mastocytoma · Multiple mastocytoma

ORPHA:79455