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"

8 matching diseasesClear search ×

Open spinal dysraphism with a myelomeningocele

Myelomeningocele · MMC

ORPHA:93969

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Lipomyelomeningocele

ORPHA:268835

True myelomeningocele

True MMC

ORPHA:645383

Cranial meningocele

ORPHA:268820

Lateral meningocele syndrome

Lehman syndrome

ORPHA:2789

Meningocele

ORPHA:93968

Myelocystocele

ORPHA:268813