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"

12 matching diseasesClear search ×

Poland syndrome

Poland anomaly · Poland sequence

ORPHA:2911

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

ORPHA:1521

Hair anomaly

ORPHA:79363

Heart position anomaly

ORPHA:98716

Larynx anomaly

ORPHA:156249

Lens position anomaly

ORPHA:98653

Nail anomaly

ORPHA:79368

Nose and cavum anomaly

ORPHA:156246

Peters anomaly

Peters congenital glaucoma

ORPHA:708

Rieger anomaly

ORPHA:91483

Sebaceous gland anomaly

ORPHA:79372

Uhl anomaly

ORPHA:3403