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"

8 matching diseasesClear search ×

Mosaic schwannomatosis

Mosaic SWN · MNF3

ORPHA:634492

Benign schwannoma

Neurilemmoma · Neurilemoma

ORPHA:252164

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

ORPHA:634511

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

ORPHA:634461

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

ORPHA:634475