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"

9 matching diseasesClear search ×

Paget disease of the nipple

Paget's disease of the nipple · Paget disease of the breast

ORPHA:180275

Extramammary Paget disease

ORPHA:2800

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

GCGR-related hyperglucagonemia

Mahvash disease

ORPHA:438274

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

ORPHA:97336

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390

Psittacosis

Ornithosis · Parrot fever

ORPHA:660053

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131