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"

7 matching diseasesClear search ×

Dracunculiasis

Dracunculosis · Guinea worm disease

ORPHA:231

Mal de Meleda

Meleda disease

ORPHA:87503

Medullar disease

ORPHA:102000

Meige disease

Hereditary lymphedema type II · Meige lymphedema

ORPHA:90186

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

ORPHA:91495

Wolman disease

ORPHA:75233