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"

151 matching diseasesClear search ×

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

ORPHA:2853

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Werner syndrome

Adult progeria · WS

ORPHA:902