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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"
Familial drusen
DHRD · Dominant drusen
Bothnia retinal dystrophy
Västerbotten dystrophy
OBSOLETE: Inherited retinal disorder
OBSOLETE: Retinal dystrophy
Retinal macular dystrophy type 2
MCDR2
Thiel-Behnke corneal dystrophy
Anterior limiting membrane dystrophy type 2 · Corneal dystrophy of Bowman layer type 2