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"

11 matching diseasesClear search ×

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

ORPHA:216729

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

ORPHA:693832

Global cerebellar malformation

Diffuse cerebellar malformation

ORPHA:269224

Mucocutaneous venous malformations

Cutaneous and mucosal venous malformation · VMCM

ORPHA:2451

Rare genetic venous malformation

ORPHA:459548

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

ORPHA:217008

Slow-flow malformation, venous type

Rare venous malformation

ORPHA:211252

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

ORPHA:1053

White forelock with malformations

ORPHA:2475