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 ×

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469