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 ×

Neurocutaneous melanocytosis

NCM · Neurocutaneous melanosis

ORPHA:2481

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

OBSOLETE: Limbic encephalitis with nCMAgs antibodies

OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies

ORPHA:163914