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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"
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
NF-1 · NF1
Mosaic neurofibromatosis type 1
MNF1 · Mosaic NF1
Neurofibromatosis type 1
neurofibromatosis type I · NF-1