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 ×

Carney complex-trismus-pseudocamptodactyly syndrome

Carney complex variant

ORPHA:319340

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

ORPHA:1359