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"

5 matching diseasesClear search ×

Phakomatosis cesiomarmorata

Phakomatosis pigmentovascularis type 5

ORPHA:79484

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

ORPHA:79483

Phakomatosis pigmentokeratotica

ORPHA:2874

Phakomatosis pigmentovascularis

ORPHA:2875

Phakomatosis spilorosea

Phakomatosis pigmentovascularis type 3

ORPHA:79485