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"

10 matching diseasesClear search ×

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

ORPHA:861

Dermochondrocorneal dystrophy

François syndrome

ORPHA:79149

Fragile X syndrome

FRAXA syndrome · FXS

ORPHA:908

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

ORPHA:2052

Frasier syndrome

ORPHA:347

FRAXF syndrome

ORPHA:100974

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

Kleine-Levin syndrome

ORPHA:33543

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

ORPHA:69087

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896