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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"
Bothnia retinal dystrophy
Västerbotten dystrophy
Facioscapulohumeral dystrophy
Landouzy-Dejerine dystrophy · FSH dystrophy
North Carolina macular dystrophy
CAPE dystrophy · CAPED
Pattern dystrophy
Patterned dystrophy of the retinal pigment epithelium
Progressive cone dystrophy
Cone dystrophy