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"

21 matching diseasesClear search ×

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Aortic malformation

ORPHA:98718

Biliary atresia with splenic malformation syndrome

BASM syndrome

ORPHA:244283

Capillary malformation-arteriovenous malformation

CM-AVM

ORPHA:137667

Cranial malformation

ORPHA:98038

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

ORPHA:693832

Genetic cardiac malformation

ORPHA:477805

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

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 arteriovenous malformation

Arteriovenous malformation of the spleen

ORPHA:693863

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

Thoracic malformation

ORPHA:182108