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"

5 matching diseasesClear search ×

Spastic paraplegia-neuropathy-poikiloderma syndrome

Antinolo-Nieto-Borrego syndrome

ORPHA:2821

Anti-glomerular basement membrane disease

Anti-GBM syndrome

ORPHA:375

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

ORPHA:81

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

ORPHA:107

Tricho-retino-dento-digital syndrome

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

ORPHA:1264