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 ×

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Poretti-Boltshauser syndrome

ORPHA:370022

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

ORPHA:97297

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

ORPHA:107

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

ORPHA:1292

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ORPHA:475