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 ×

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

ORPHA:2295

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416