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 ×

Hereditary neuropathy with liability to pressure palsies

Current pressure-sensitive neuropathy · HNPP

ORPHA:640

Navajo neurohepatopathy

Navajo neuropathy

ORPHA:255229

Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG

Anti-MAG neuropathy · Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein

ORPHA:639

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

ORPHA:60039

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

ORPHA:674935