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 ×

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

ORPHA:3137

Extramammary Paget disease

ORPHA:2800

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Osgood-Schlatter disease

Aseptic necrosis of the tibial tubercle · Osteochondrosis of the tibial tubercle

ORPHA:97335

Paget disease of the nipple

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

ORPHA:180275

Panner disease

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

ORPHA:97336

Psittacosis

Ornithosis · Parrot fever

ORPHA:660053

Schilder disease

Myelinoclastic diffuse sclerosis

ORPHA:59298