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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"
Best vitelliform macular dystrophy
BMD · BVMD
Adult-onset foveomacular vitelliform dystrophy
AOFMD · AVMD
Hypotrichosis with juvenile macular degeneration
HJMD · Hypotrichosis with juvenile macular dystrophy
Juvenile-onset Steinert myotonic dystrophy
Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1
Occult macular dystrophy
OCMD · OMD