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 ×

Split cord malformation, composite type

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

ORPHA:633076

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

ORPHA:268882

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Hemi-myeloschisis

Split cord malformation associated with myeloschisis

ORPHA:645393

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

OBSOLETE: Arnold-Chiari malformation type II

OBSOLETE: Arnold-Chiari malformation type 2 · OBSOLETE: Chiari malformation type 2

ORPHA:1136

OBSOLETE: Intermediate isolated anorectal malformation

ORPHA:171208

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671