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 ×

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Malignant triton tumor

MPNST with rhabdomyosarcomatous differentiation · MTT

ORPHA:252212

Myeloproliferative neoplasm

MPD · MPN

ORPHA:98274