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 ×

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

ORPHA:1264

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280