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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"
X-linked cone dysfunction syndrome with myopia
Bornholm eye disease
Åland Islands eye disease
AIED · Forsius-Eriksson syndrome
Best vitelliform macular dystrophy
BMD · BVMD
Fish-eye disease
FED · Partial LCAT deficiency
Muscle-eye-brain disease
MEB syndrome · Muscle-eye-brain syndrome
Rare genetic eye disease
Rare genetic ophthalmologic disease
Senior-Boichis syndrome
Boichis disease · Nephronophthisis-hepatic fibrosis syndrome