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 ×

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

ORPHA:2678

Isolated multiple intestinal atresia

ORPHA:2300