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 ×

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Hailey-Hailey disease

Benign chronic familial pemphigus

ORPHA:2841

Ringed hair disease

Pili annulati

ORPHA:169