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"

6 matching diseasesClear search ×

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Benign schwannoma

Neurilemmoma · Neurilemoma

ORPHA:252164

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant perineurioma

ORPHA:252128

Malignant sex cord stromal tumor of ovary

Malignant ovarian SCST · Malignant ovarian sex cord-stromal tumor

ORPHA:35808

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

ORPHA:499182

Primary melanoma of the central nervous system

Primary melanoma of the CNS · Malignant melanoma of meninges

ORPHA:252050