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"

12 matching diseasesClear search ×

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Aortic malformation

ORPHA:98718

Cerebellar malformation

ORPHA:182061

Cranial malformation

ORPHA:98038

Hemi-myeloschisis

Split cord malformation associated with myeloschisis

ORPHA:645393

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

OBSOLETE: Split hand or/and split foot malformation

ORPHA:294935

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Split cord malformation, composite type

Split cord malformation type 1.5 · Split cord malformation, mixed type

ORPHA:633076

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

ORPHA:1053