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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"
Norrie disease
Atrophia bulborum hereditaria · Episkopi blindness
Familial LCAT deficiency
Complete LCAT deficiency · FLD
Marburg hemorrhagic fever
Green monkey disease · MHF
Pontocerebellar hypoplasia type 1
Norman disease · PCH1
Wagner disease
Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy