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 ×

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

ORPHA:2345

Anorectal malformation

ARM

ORPHA:96346

Aortic malformation

ORPHA:98718

Bronchial malformation

ORPHA:649014

Cerebellar malformation

ORPHA:182061

Cranial malformation

ORPHA:98038

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Intestinal malformation

Malformation of the intestine

ORPHA:97945

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Thoracic malformation

ORPHA:182108