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"

10 matching diseasesClear search ×

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

ORPHA:2763

Boomerang dysplasia

ORPHA:1263

Campomelic dysplasia and related disorders

Bent bone dysplasia

ORPHA:93439

FGFR2-related bent bone dysplasia

Perinatal lethal bent bone dysplasia

ORPHA:313855

Fibrous dysplasia of bone

ORPHA:249

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

ORPHA:1426

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

ORPHA:93444

Slender bone dysplasia

ORPHA:93440