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"

58 matching diseasesClear search ×

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

ORPHA:2886

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857

Toxic oil syndrome

ORPHA:227972

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

ORPHA:447896

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473