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"

200 matching diseasesClear search ×

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

ORPHA:688642

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

ORPHA:2497

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome

ORPHA:1568

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469