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"

3 matching diseasesClear search ×

Behr syndrome

Behr complicated familial optic atrophy

ORPHA:1239

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Pure or complex hereditary spastic paraplegia

Pure or complex familial spastic paraplegia · Pure or complicated familial spastic paraplegia

ORPHA:320335