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 ×

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism

ORPHA:823

Closed spinal dysraphism

Spina bifida occulta · Closed spina bifida

ORPHA:645202

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

Isolated delta-storage pool disease

Isolated delta-SPD · Isolated dense-SPD

ORPHA:248340

Isolated idiopathic anterior uveitis

Isolated IAU

ORPHA:280914

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

ORPHA:178311

Open spinal dysraphism

Spina bifida aperta · Open spina bifida

ORPHA:268369

Spinal dysraphism with a posterior meningocele

Spina bifida cystica

ORPHA:268744