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"

7 matching diseasesClear search ×

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Benign schwannoma

Neurilemmoma · Neurilemoma

ORPHA:252164

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant perineurioma

ORPHA:252128

Mosaic schwannomatosis

Mosaic SWN · MNF3

ORPHA:634492

Neuroleptic malignant syndrome

ORPHA:94093

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

ORPHA:499182