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"

154 matching diseasesClear search ×

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

ORPHA:3301

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

ORPHA:861

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

ORPHA:2950

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

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

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469