Rare Disease Library

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"

5 matching diseasesClear search ×

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

ORPHA:634475

Mosaic schwannomatosis

Mosaic SWN · MNF3

ORPHA:634492

Neurofibromatosis/schwannomatosis

NF/SWN

ORPHA:634518