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 ×

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant perineurioma

ORPHA:252128

Neurofibroma

ORPHA:252183

Neuroleptic malignant syndrome

ORPHA:94093

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

ORPHA:499182