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"

103 matching diseasesClear search ×

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

ORPHA:217008

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

ORPHA:66529

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

ORPHA:420561

Thoracolaryngopelvic dysplasia

Barnes syndrome

ORPHA:3317

Tricho-retino-dento-digital syndrome

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

ORPHA:1264

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

ORPHA:805

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286