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 ×

Open spinal dysraphism

Spina bifida aperta · Open spina bifida

ORPHA:268369

OBSOLETE: Cervical spina bifida aperta

ORPHA:268392

OBSOLETE: Cervicothoracic spina bifida aperta

ORPHA:268397

OBSOLETE: Lumbosacral spina bifida aperta

ORPHA:268388

OBSOLETE: Thoracolumbosacral spina bifida aperta

ORPHA:268384

OBSOLETE: Total spina bifida aperta

ORPHA:268377

OBSOLETE: Upper thoracic spina bifida aperta

ORPHA:268740

Closed spinal dysraphism

Spina bifida occulta · Closed spina bifida

ORPHA:645202

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism

ORPHA:823

Spinal dysraphism with a posterior meningocele

Spina bifida cystica

ORPHA:268744