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"

6 matching diseasesClear search ×

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

ORPHA:595216

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull syndrome

ORPHA:1834

Fibrous dysplasia of bone

ORPHA:249

Mazabraud syndrome

Myxoma with fibrous dysplasia

ORPHA:57782

Monostotic fibrous dysplasia

Jaffe-Lichtenstein disease

ORPHA:93277

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157