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"

54 matching diseasesClear search ×

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

ORPHA:2950

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Usher syndrome type 2

USH2

ORPHA:231178