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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"
Full NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis
Full schwannomatosis
Full NF3 · Full neurofibromatosis type 3
Mosaic NF2-related schwannomatosis
Mosaic neurofibromatosis type 2 · Mosaic NF2
Mosaic schwannomatosis
Mosaic SWN · MNF3
Neurofibromatosis/schwannomatosis
NF/SWN
Non-HFE-related hemochromatosis