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"

3 matching diseasesClear search ×

Mosaic schwannomatosis

Mosaic SWN · MNF3

ORPHA:634492

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

ORPHA:634461

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

ORPHA:634475