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"

4 matching diseasesClear search ×

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

ORPHA:2015

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

ORPHA:2962

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157

Thumb stiffness-brachydactyly-intellectual disability syndrome

Piussan-Lenaerts-Mathieu syndrome

ORPHA:1078