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"

2 matching diseasesClear search ×

Tubulinopathy-associated dysgyria

Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome

ORPHA:467166

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174