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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"
Peters plus syndrome
Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
EDS with short stature and limb anomalies · EDS progeroid type 1
Peters anomaly
Peters congenital glaucoma