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 ×

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Townes-Brocks syndrome

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

ORPHA:857

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

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

ORPHA:1493