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 ×

Hemi-myeloschisis

Split cord malformation associated with myeloschisis

ORPHA:645393

Complex vascular malformation with associated anomalies

Hemangiolymphangioma

ORPHA:211277

Genetic complex vascular malformation with associated anomalies

Genetic hemangiolymphangioma

ORPHA:459537

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Rare capillary malformation with associated anomalies

ORPHA:458830

Schisis association

ORPHA:63862

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

Syndrome or malformation associated with head and neck malformations

ORPHA:156237

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329