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 ×

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

ORPHA:91412

Inverse Marcus-Gunn phenomenon

ORPHA:98951