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 ×

Progressive myoclonic epilepsy type 1

Unverricht-Lundborg disease · EPM1

ORPHA:308

OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome

ORPHA:2580

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

ORPHA:2839

Shoulder and thorax deformity-congenital heart disease syndrome

ORPHA:1940

True congenital shoulder dislocation

ORPHA:295030