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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"
Juvenile hyaline fibromatosis
Murray-Puretic-Drescher syndrome · Puretic syndrome
Ascher syndrome
Blepharochalasis-double lip syndrome
Drug reaction with eosinophilia and systemic symptoms
DRESS syndrome · Drug rash with eosinophilia and systemic symptoms
Thickened earlobes-conductive deafness syndrome
Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome