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"

6 matching diseasesClear search ×

De Sanctis-Cacchione syndrome

Xeroderma pigmentosum with neurologic manifestation

ORPHA:1569

OBSOLETE: Hereditary iron overload with neurologic manifestation

ORPHA:140428

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

ORPHA:276255

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

ORPHA:276267

Xeroderma pigmentosum

ORPHA:910

Xeroderma pigmentosum variant

XPV

ORPHA:90342